Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values X1000gp3_AA X1000gp3_AC X1000gp3_AF X1000gp3_AFR_AF X1000gp3_AMR_AF X1000gp3_AN X1000gp3_CIEND X1000gp3_CIPOS X1000gp3_CS X1000gp3_DP X1000gp3_EAS_AF X1000gp3_END X1000gp3_EUR_AF X1000gp3_IMPRECISE X1000gp3_MC X1000gp3_MEINFO X1000gp3_MEND X1000gp3_MLEN X1000gp3_MSTART X1000gp3_NS X1000gp3_SAS_AF X1000gp3_SVLEN X1000gp3_SVTYPE X1000gp3_TSD ACHILLES_Lineage_Results_Top_Genes CGC_Cancer.Germline.Mut CGC_Cancer.Molecular.Genetics CGC_Cancer.Somatic.Mut CGC_Cancer.Syndrome CGC_Chr CGC_Chr.Band CGC_GeneID CGC_Name CGC_Other.Germline.Mut CGC_Tissue.Type COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions COSMIC_overlapping_primary_sites ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs ESP_AA ESP_AAC ESP_AA_AC ESP_AA_AGE ESP_AA_GTC ESP_AvgAAsampleReadDepth ESP_AvgEAsampleReadDepth ESP_AvgSampleReadDepth ESP_CA ESP_CDP ESP_CG ESP_CP ESP_Chromosome ESP_DBSNP ESP_DP ESP_EA_AC ESP_EA_AGE ESP_EA_GTC ESP_EXOME_CHIP ESP_FG ESP_GL ESP_GM ESP_GS ESP_GTC ESP_GTS ESP_GWAS_PUBMED ESP_MAF ESP_PH ESP_PP ESP_Position ESP_TAC ESP_TotalAAsamplesCovered ESP_TotalEAsamplesCovered ESP_TotalSamplesCovered Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym HGNC_Accession.Numbers HGNC_CCDS.IDs HGNC_Chromosome HGNC_Date.Modified HGNC_Date.Name.Changed HGNC_Date.Symbol.Changed HGNC_Ensembl.Gene.ID HGNC_Ensembl.ID.supplied.by.Ensembl. HGNC_Entrez.Gene.ID.supplied.by.NCBI. HGNC_Enzyme.IDs HGNC_Gene.family.description HGNC_HGNC.ID HGNC_Locus.Group HGNC_Locus.Type HGNC_Name.Synonyms HGNC_OMIM.ID.supplied.by.NCBI. HGNC_Previous.Names HGNC_Previous.Symbols HGNC_Primary.IDs HGNC_Pubmed.IDs HGNC_Record.Type HGNC_RefSeq.IDs HGNC_RefSeq.supplied.by.NCBI. HGNC_Secondary.IDs HGNC_Status HGNC_Synonyms HGNC_UCSC.ID.supplied.by.UCSC. HGNC_UniProt.ID.supplied.by.UniProt. HGNC_VEGA.IDs HGVS_coding_DNA_change HGVS_genomic_change HGVS_protein_change ORegAnno_bin UniProt_alt_uniprot_accessions build ccds_id contaminant_fraction contaminant_lod context covered dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP.._NR dbNSFP_GERP.._RS dbNSFP_GERP.._RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_fold.degenerate dbNSFP_genename dbNSFP_hg18_pos.1.coor. dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon dbsnp_site gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_id gene_type havana_transcript improper_pairs init_n_lod judgement map_Q0_reads n_alt_count n_alt_sum n_ref_count n_ref_sum normal_best_gt normal_power power score secondary_variant_classification strand t_alt_count t_alt_max_mapq t_alt_sum t_del_count t_ins_count t_lod_fstar t_ref_count t_ref_max_mapq t_ref_sum total_pairs transcript_id tumor_f tumor_power MT-ND2 4536 __UNKNOWN__ __UNKNOWN__ M 5405 5405 __UNKNOWN__ Silent SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrM:5405A>G ENST00000361453.3 + 1 936 c.936A>G c.(934-936)aaA>aaG p.K312K P03891 NU2M_HUMAN mitochondrially encoded NADH dehydrogenase 2 312 NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(2)|lung(1) 3 AACAACGTAAAAATAAAATGA 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant mitochondria 2011-07-04 2005-02-15 2005-02-16 ENSG00000198763 ENSG00000198763 4536 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7456 protein-coding gene gene with protein product complex I ND2 subunit, NADH-ubiquinone oxidoreductase chain 2 516001 NADH dehydrogenase 2 MTND2 NA Standard YP_003024027 NA Approved ND2, NAD2 P03891 ENST00000361453.3:c.936A>G chrM.hg19:g.5405A>G NA Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4 hg19 0.02 9.09753 TAAxAAT COVERED NOVEL MT-ND2-201 KNOWN basic|appris_principal protein_coding NA protein_coding 7 18.652161 KEEP 0 0 0 62 1847 AA 1 1 0 + 58 60 2117 0 0 182.469153 176 60 6126 356 ENST00000361453.3 0.247863 1 DDX11L1 100287102 __UNKNOWN__ __UNKNOWN__ 1 13418 13418 __UNKNOWN__ RNA SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:13418G>A ENST00000456328.2 + 0 666 NR_046018.2|NR_051986.1 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 NA NA NA CCACCACCCCGAGATCACATT 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AM992871 1p36.33 2012-02-23 2012-02-23 ENSG00000223972 ENSG00000223972 100287102 37102 pseudogene pseudogene NA DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1 NA 19476624 Standard NR_046018 NA Approved uc010nxq.1 OTTHUMG00000000961 ENST00000456328.2: chr1.hg19:g.13418G>A NA hg19 0.02 -0.377085 CCCxAGA COVERED NOVEL DDX11L1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000362751.1 0 3.309635 KEEP 9 0 0 11 334 GG 0.992708 0.90244 0 + 4 34 142 0 0 10.331165 39 45 1224 65 ENST00000456328.2 0.093023 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 825852 825852 __UNKNOWN__ IGR SNP C C T rs75354443 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:825852C>T NA NA AL645608.2 (5869 upstream) : RP11-54O7.16 (14361 downstream) NA NA NA CAGGCTATGTCTGAACTAGGA 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.825852C>T NA hg19 0.02 -0.192018 TGTxTGA COVERED NOVEL 0 15 3.00972 KEEP 2 0 0 10 347 CC 0.992708 0.454419 0 3 60 105 0 0 9.855126 4 60 151 38 0.428571 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 825860 825860 __UNKNOWN__ IGR SNP G G A rs75208422 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:825860G>A NA NA AL645608.2 (5877 upstream) : RP11-54O7.16 (14353 downstream) NA NA NA GTCTGAACTAGGAGGGTAGAA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.825860G>A NA hg19 0.02 -0.184233 CTAxGAG COVERED NOVEL 0 15 3.009619 KEEP 2 0 0 10 336 GG 0.992708 0.42039 0 3 60 102 0 0 9.555092 4 60 140 37 0.428571 0.423478 VWA1 64856 __UNKNOWN__ __UNKNOWN__ 1 1378235 1378235 __UNKNOWN__ 3'UTR SNP A A G rs70949589|rs2411340 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:1378235A>G ENST00000476993.1 + 0 4484 VWA1_ENST00000404702.3_3'UTR NM_022834.4 NP_073745.2 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 NA NA behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614) NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TAGTGACGGTAATAAACCAAG 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC059409 CCDS27.1, CCDS28.1, CCDS28.2 1p36.33 2013-02-11 ENSG00000179403 ENSG00000179403 64856 Fibronectin type III domain containing 30910 protein-coding gene gene with protein product 611901 NA 14527666, 12062410 Standard NM_022834 NM_022834 NA Approved FLJ22215, VWA-1, WARP uc001afs.3 Q6PCB0 OTTHUMG00000002975 ENST00000476993.1:c.*3068A>G chr1.hg19:g.1378235A>G NA A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5 hg19 CCDS27.1 0.02 4.296668 GGTxATA COVERED NOVEL VWA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008291.1 0 8.421194 KEEP 0 0 0 28 788 AA 0.999997 0.999996 0 + 16 60 590 0 0 45.990419 107 60 3683 174 ENST00000476993.1 0.130081 0.999999 SLC35E2B 728661 __UNKNOWN__ __UNKNOWN__ 1 1595739 1595739 __UNKNOWN__ 3'UTR SNP T T C rs201191342 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:1595739T>C ENST00000378662.1 - 0 3460 SLC35E2B_ENST00000234800.6_3'UTR P0CK96 S352B_HUMAN solute carrier family 35, member E2B NA NA integral component of membrane (GO:0016021) kidney(1)|lung(1) 2 TGTTTCTGAATGATTTTATCT 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS44041.1 1p36.33 2013-05-22 ENSG00000189339 ENSG00000189339 728661 Solute carriers 33941 protein-coding gene gene with protein product NA NA Standard XM_006710870 NA Approved uc001ahg.4 P0CK96 OTTHUMG00000078639 ENST00000378662.1:c.*1482A>G chr1.hg19:g.1595739T>C NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8 hg19 CCDS44041.1 0.02 25.390554 GAAxGAT COVERED NOVEL SLC35E2B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171589.1 14 4.777316 KEEP 17 5 148 68 1997 TT 1 1 0 - 28 40 885 0 0 50.463375 697 60 24185 966 ENST00000378662.1 0.038621 1 SLC35E2B 728661 __UNKNOWN__ __UNKNOWN__ 1 1599812 1599812 __UNKNOWN__ Missense_Mutation SNP C C T rs12729295 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:1599812C>T ENST00000378662.1 - 9 1694 c.934G>A c.(934-936)Gtc>Atc p.V312I SLC35E2B_ENST00000234800.6_Missense_Mutation_p.V312I P0CK96 S352B_HUMAN solute carrier family 35, member E2B 312 NA V -> I (in Ref. 1; BAA32292, 3; BAG54222 and 4; CAI56761). {ECO:0000305}. integral component of membrane (GO:0016021) kidney(1)|lung(1) 2 TACGCCGTGACGCTCTGAAGG 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 32 44 41 NA NA NA 1 NA NA 1599812 692 1578 2270 SO:0001583 missense CCDS44041.1 1p36.33 2013-05-22 ENSG00000189339 ENSG00000189339 728661 Solute carriers 33941 protein-coding gene gene with protein product NA NA Standard XM_006710870 NA Approved uc001ahg.4 P0CK96 OTTHUMG00000078639 ENST00000378662.1:c.934G>A chr1.hg19:g.1599812C>T ENSP00000367931:p.Val312Ile NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8 hg19 CCDS44041.1 0.02 5.809682 TGAxGCT COVERED 1212 0.554945054945055 231 0.4695121951219512 225 0.6215469613259669 288 0.5034965034965035 468 0.6174142480211082 c 8.520 0.868488 0.17322 . . ENSG00000189339 ENST00000378662;ENST00000234800 T;T 0.62498 0.02;0.02 5.07 5.07 0.68467 Domain of unknown function DUF250 (1); 0.000000 0.64402 D 0.000004 T 0.00012 0.0000 L 0.28014 0.82 0.22873 P 0.99862843 B 0.32781 0.384 B 0.25884 0.064 T 0.30297 -0.9983 9 0.02654 T 1 -59.6953 11.3121 0.49370 0.0:0.9165:0.0:0.0835 rs12729295 312 P0CK96 S352B_HUMAN I 312 ENSP00000367931:V312I;ENSP00000234800:V312I ENSP00000234800:V312I V - 1 0 SLC35E2B 1589675 0.998000 0.40836 0.998000 0.56505 0.212000 0.24457 3.705000 0.54823 2.518000 0.84900 0.563000 0.77884 GTC NOVEL SLC35E2B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171589.1 1 4.865904 KEEP 81 3 84 46 1487 CC 1 1 0 - 49 40 1636 0 0 143.229173 117 50 4091 343 ENST00000378662.1 0.295181 1 SLC35E2 9906 __UNKNOWN__ __UNKNOWN__ 1 1660906 1660906 __UNKNOWN__ Intron SNP G G A rs2377219 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:1660906G>A ENST00000355439.2 - 7 1493 RP1-283E3.4_ENST00000417099.1_RNA|SLC35E2_ENST00000400924.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) tgcaacctccgcctctggggt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007916 CCDS33.1, CCDS55560.1 1p36.33 2013-05-22 ENSG00000215790 ENSG00000215790 9906 Solute carriers 20863 protein-coding gene gene with protein product NA NA Standard XM_049733 NM_182838 NA Approved KIAA0447 uc001aia.2 P0CK97 OTTHUMG00000000823 ENST00000355439.2:c.733-4045C>T chr1.hg19:g.1660906G>A NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 hg19 CCDS55560.1 0.02 1.640938 TCCxCCT COVERED NOVEL SLC35E2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100204.2 1 3.912459 KEEP 2 0 0 13 442 GG 0.994391 0.992601 0 - 7 40 239 0 0 17.275629 65 60 2225 93 ENST00000355439.2 0.097222 0.9982 PRDM16 63976 __UNKNOWN__ __UNKNOWN__ 1 3350173 3350173 __UNKNOWN__ Intron SNP T T C rs2493271 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:3350173T>C ENST00000270722.5 + 17 3745 PRDM16_ENST00000378398.3_Intron|PRDM16_ENST00000378391.2_Intron|PRDM16_ENST00000442529.2_Intron|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000441472.2_Intron|PRDM16_ENST00000512462.1_Intron Q9HAZ2 PRD16_HUMAN PR domain containing 16 NA NA brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) cctgcctgtctgggatggccc 0.687 NA NA T EVI1 MDS, AML t||| 2022 0.403754 0.7451 0.2579 5008 , , NA 11510 0.376 NA 0.2495 False NA ,,, NA NA NA 2504 0.2331 NA NA NA Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976 Zinc fingers, C2H2-type 14000 protein-coding gene gene with protein product MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 605557 NA 11050005 Standard NM_022114 NM_199454 NA Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.3697-68T>C chr1.hg19:g.3350173T>C NA A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 hg19 CCDS41236.2 0.02 12.764568 GTCxGGG COVERED NOVEL PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000001382.3 0 4.511868 KEEP 10 0 0 15 430 TT 0.99649 0.99649 0 + 12 36 405 0 0 24.157971 325 60 11279 398 ENST00000270722.5 0.035608 1 ICMT 23463 __UNKNOWN__ __UNKNOWN__ 1 6291933 6291933 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:6291933G>A ENST00000343813.5 - 4 701 NM_012405.3 NP_036537.1 O60725 ICMT_HUMAN isoprenylcysteine carboxyl methyltransferase NA NA C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671) NS(1)|endometrium(2) 3 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) aaAAAAAAAAGAAAAGCAGTG 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 28 31 30 NA NA NA 1 NA NA 6291933 2202 4300 6502 SO:0001627 intron_variant AF064084 CCDS61.1 1p36 2010-04-29 ENSG00000116237 ENSG00000116237 23463 2.1.1.100 5350 protein-coding gene gene with protein product protein-S-isoprenylcysteine O-methyltransferase 605851 NA 9614111, 10441503 Standard NM_012405 XM_005263437 NA Approved PCCMT, HSTE14, PPMT uc001amk.3 O60725 OTTHUMG00000001254 ENST00000343813.5:c.672+28C>T chr1.hg19:g.6291933G>A NA Q6FHT0 hg19 CCDS61.1 0.02 3.415242 AAAxAAA COVERED NOVEL ICMT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000003681.1 2 7.303345 KEEP 0 2 22 33 835 GG 0.999999 0.999999 0 - 19 60 281 1 0 12.032402 161 70 4145 261 ENST00000343813.5 0.105556 1 PER3 8863 __UNKNOWN__ __UNKNOWN__ 1 7890053 7890053 __UNKNOWN__ Missense_Mutation SNP G G A rs1776342 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:7890053G>A ENST00000377532.3 + 18 3270 c.3046G>A c.(3046-3048)Gct>Act p.A1016T PER3_ENST00000361923.2_Missense_Mutation_p.A1007T P56645 PER3_HUMAN period circadian clock 3 1007 5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich. NA Missing (associated with eveningness and better cognitive performance during sleep deprivation exepriments; dbSNP:rs57875989). circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) p.A1007T(1) breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TACTGCCAGCGCTCTGTCCAC 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) kidney(1) 87 69 75 NA NA NA 1 NA NA 7890053 1995 3902 5897 SO:0001583 missense BC026102 CCDS89.1, CCDS72695.1 1p36.23 2012-12-13 2012-12-13 ENSG00000049246 ENSG00000049246 8863 8847 protein-coding gene gene with protein product 603427 period (Drosophila) homolog 3, period homolog 3 (Drosophila) NA 9427249 Standard NM_016831 XM_005263520 NA Approved uc001aoo.3 P56645 OTTHUMG00000001216 ENST00000377532.3:c.3046G>A chr1.hg19:g.7890053G>A ENSP00000366755:p.Ala1016Thr NA Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 hg19 0.02 16.36197 AGCxCTC COVERED . . . . . . . . . . g 0.668 -0.803078 0.02841 . . ENSG00000049246 ENST00000377532;ENST00000361923 T;T 0.14391 2.51;2.51 0.119 0.119 0.14685 Period circadian-like, C-terminal (1); 9.368370 0.00166 N 0.000019 T 0.09158 0.0226 N 0.20685 0.6 0.09310 N 1 B;B;B;B;B 0.25048 0.025;0.007;0.066;0.117;0.007 B;B;B;B;B 0.23018 0.002;0.004;0.004;0.043;0.004 T 0.25676 -1.0125 9 0.18710 T 0.47 . . . . rs1776342 56;1007;1016;1016;1007 B4DR65;A2I2N5;A6H8X0;P56645-2;P56645 .;.;.;.;PER3_HUMAN T 1016;1007 ENSP00000366755:A1016T;ENSP00000355031:A1007T ENSP00000355031:A1007T A + 1 0 PER3 7812640 0.000000 0.05858 0.068000 0.19968 0.074000 0.17049 -0.849000 0.04322 0.275000 0.22094 0.280000 0.19369 GCT NOVEL PER3-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000003606.1 1 2.990352 KEEP 1 4 110 49 1535 GG 1 1 0 + 37 60 1190 0 0 83.496829 355 60 11533 522 ENST00000377532.3 0.094388 1 RERE 473 __UNKNOWN__ __UNKNOWN__ 1 8415289 8415289 __UNKNOWN__ Intron SNP G G C rs545020052 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:8415289G>C ENST00000337907.3 - 24 5302 RERE_ENST00000377464.1_Intron|RERE_ENST00000476556.1_Intron|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Intron NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats NA NA chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCCCAAGCCCGCAGCCTCCTG 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF016005 CCDS95.1, CCDS41243.1 1p36.23 2013-01-25 ENSG00000142599 ENSG00000142599 473 GATA zinc finger domain containing 9965 protein-coding gene gene with protein product 605226 ATN1L NA 10814707, 10729226 Standard NM_012102 NA Approved KIAA0458, ARP, ARG, DNB1 uc001apf.3 Q9P2R6 OTTHUMG00000001765 ENST00000337907.3:c.4668-109C>G chr1.hg19:g.8415289G>C NA O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 hg19 CCDS95.1 0.02 4.18248 CCCxCAG COVERED NOVEL RERE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004916.1 0 10.232657 KEEP 0 0 0 34 1157 GG 0.999998 0.999998 0 - 45 60 1555 0 0 139.477868 91 60 3147 180 ENST00000337907.3 0.330882 1 KIF1B 23095 __UNKNOWN__ __UNKNOWN__ 1 10425516 10425516 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:10425516G>A ENST00000377081.1 + 42 4641 c.4562G>A c.(4561-4563)aGc>aAc p.S1521N KIF1B_ENST00000263934.6_Missense_Mutation_p.S1475N|KIF1B_ENST00000377086.1_Missense_Mutation_p.S1521N O60333 KIF1B_HUMAN kinesin family member 1B 1521 NA anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192) cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CTTGGTGACAGCATCCCCAAA 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 84 81 82 NA NA NA 1 NA NA 10425516 2203 4300 6503 SO:0001583 missense AF257176 CCDS111.1, CCDS112.1 1p36.22 2014-09-17 ENSG00000054523 ENSG00000054523 23095 Kinesins, Pleckstrin homology (PH) domain containing 16636 protein-coding gene gene with protein product 605995 CMT2A, CMT2 NA 11389829, 10762626 Standard NM_015074 NA Approved KIAA0591, KLP, HMSNII uc001aqw.4 O60333 OTTHUMG00000001817 ENST00000377081.1:c.4562G>A chr1.hg19:g.10425516G>A ENSP00000366284:p.Ser1521Asn NA A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280 hg19 0.02 23.723651 ACAxCAT COVERED . . . . . . . . . . G 15.58 2.876463 0.51801 . . ENSG00000054523 ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081 T;T;T 0.71934 -0.54;-0.61;-0.61 5.48 5.48 0.80851 . 0.101752 0.64402 D 0.000002 T 0.55909 0.1950 N 0.08118 0 0.37289 D 0.908163 B;B;B;B;B;B 0.31485 0.164;0.22;0.164;0.325;0.02;0.078 B;B;B;B;B;B 0.35278 0.118;0.058;0.08;0.199;0.018;0.017 T 0.58098 -0.7696 10 0.23302 T 0.38 . 19.3772 0.94517 0.0:0.0:1.0:0.0 . 1507;1481;1521;1495;1521;1475 Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2 .;.;.;.;KIF1B_HUMAN;. N 1521;1475;1521;1521 ENSP00000263934:S1475N;ENSP00000366290:S1521N;ENSP00000366284:S1521N ENSP00000263934:S1475N S + 2 0 KIF1B 10348103 1.000000 0.71417 1.000000 0.80357 0.936000 0.57629 3.681000 0.54648 2.560000 0.86352 0.650000 0.86243 AGC NOVEL KIF1B-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000005106.1 3 34.005471 KEEP 0 0 0 113 3871 GG 1 1 0 + 173 70 5940 0 0 524.590982 397 70 14418 833 ENST00000377081.1 0.303509 1 C1orf167 284498 __UNKNOWN__ __UNKNOWN__ 1 11833562 11833562 __UNKNOWN__ Intron SNP T T C rs12076233 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:11833562T>C ENST00000484153.1 + 6 1033 C1orf167_ENST00000433342.1_Intron Q5SNV9 CA167_HUMAN chromosome 1 open reading frame 167 NA NA central_nervous_system(1) 1 gtcaggagtttgagaccagcc 0.502 NA NA C||| 3786 0.75599 0.5847 0.8718 5008 , , NA 12133 0.8889 NA 0.7932 False NA ,,, NA NA NA 2504 0.7301 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834308 1p36.22 2012-04-20 ENSG00000215910 ENSG00000215910 284498 25262 protein-coding gene gene with protein product NA NA 12370778 Standard XM_006710065 NA Approved DKFZp434E1410, RP11-56N19.2 uc001asy.1 Q5SNV9 OTTHUMG00000002228 ENST00000484153.1:c.1033+1246T>C chr1.hg19:g.11833562T>C NA Q8NDA9|Q8NDF3 hg19 0.02 -0.043862 GTTxGAG UNCOVERED NOVEL C1orf167-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000006326.2 8 2.708028 KEEP 6 0 0 9 273 TT 0 0 0 + 4 40 129 0 0 14.80743 0 0 0 17 ENST00000484153.1 1 0.024074 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16862294 16862294 __UNKNOWN__ IGR SNP A A G rs71259516 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16862294A>G NA NA U1 (1575 upstream) : AL355149.2 (3266 downstream) NA NA NA GGAAACCGAGACGGGCTGGAT 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16862294A>G NA hg19 0.02 11.947627 GAGxCGG COVERED NOVEL 0 2 9.92991 KEEP 55 3 97 67 2045 AA 1 1 0 53 57 1745 0 0 136.438698 280 60 9372 476 0.159159 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16862472 16862472 __UNKNOWN__ IGR SNP G G C rs200621127 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16862472G>C NA NA U1 (1753 upstream) : AL355149.2 (3088 downstream) NA NA NA tttttcctcagatccaagagc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16862472G>C NA hg19 0.02 39.00941 TCAxATC COVERED . . . . . . . . . . g 3.046 -0.196522 0.06259 . . ENSG00000197511 ENST00000357301 . . . 0.425 -0.851 0.10716 . . . . . T 0.18045 0.0433 N 0.08118 0 . . . . . . . . . T 0.23226 -1.0194 4 0.87932 D 0 . . . . . . . . H 65 . ENSP00000349853:D65H D + 1 0 AL355149.1 16735059 0.000000 0.05858 0.002000 0.10522 0.002000 0.02628 -0.886000 0.04157 -0.571000 0.06014 -1.277000 0.01392 GAT NOVEL 0 4 4.287903 KEEP 56 19 661 245 8327 GG 1 1 0 52 49 1732 0 0 118.602496 631 58 22835 1348 0.076135 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16891974 16891974 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16891974T>G ENST00000430580.2 - 27 3952 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GGGCTTCCAGTTAGAACTAGA 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.3064+153A>C chr1.hg19:g.16891974T>G NA Q8N4E8|Q9C0H0 hg19 0.02 7.537156 CAGxTAG COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 4 10.229184 KEEP 6 0 0 34 1030 TT 0.999998 0.999998 0 - 8 36 273 0 0 16.048753 222 60 7617 335 ENST00000430580.2 0.034783 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16892060 16892060 __UNKNOWN__ Intron SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16892060G>C ENST00000430580.2 - 27 3952 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGGCCACTTGGAGCAGGAATA 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.3064+67C>G chr1.hg19:g.16892060G>C NA Q8N4E8|Q9C0H0 hg19 0.02 8.733279 TTGxAGC COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 4 3.159958 KEEP 8 2 67 34 1118 GG 0.999998 0.999998 0 - 17 40 627 0 0 44.482479 213 60 7736 335 ENST00000430580.2 0.073913 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16894523 16894523 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16894523G>A ENST00000430580.2 - 24 3504 c.2617C>T c.(2617-2619)Cat>Tat p.H873Y NBPF1_ENST00000432949.1_Missense_Mutation_p.T276I|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 873 NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCCCACCGATGTCCTGCAAAT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 81 82 81 NA NA NA 1 NA NA 16894523 1503 2681 4184 SO:0001583 missense AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.2617C>T chr1.hg19:g.16894523G>A ENSP00000474456:p.His873Tyr NA Q8N4E8|Q9C0H0 hg19 0.02 1.865571 GATxTCC UNCOVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 0 2.407979 KEEP 24 0 0 8 293 GG 0 0 0 - 5 20 175 0 0 12.098836 64 48 2293 126 ENST00000430580.2 0.072464 0.997163 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16902844 16902844 __UNKNOWN__ Missense_Mutation SNP G G T rs199969012 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16902844G>T ENST00000430580.2 - 19 2924 c.2037C>A c.(2035-2037)gaC>gaA p.D679E NBPF1_ENST00000287968.8_Missense_Mutation_p.D44E|NBPF1_ENST00000432949.1_Missense_Mutation_p.D137E NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 679 NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CCTGGGACTTGTCTGGCTCAT 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 373 406 394 NA NA NA 1 NA NA 16902844 1511 2708 4219 SO:0001583 missense AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.2037C>A chr1.hg19:g.16902844G>T ENSP00000474456:p.Asp679Glu NA Q8N4E8|Q9C0H0 hg19 0.02 4.042501 CTTxTCT COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 1 6.922219 KEEP 9 0 0 23 812 GG 0.999892 0.99989 0 - 18 47 650 0 0 51.861816 98 60 3559 216 ENST00000430580.2 0.155172 0.999998 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16907164 16907164 __UNKNOWN__ Intron SNP C C T rs201839566 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16907164C>T ENST00000430580.2 - 16 2479 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACAATATGTGCGTATACAGCC 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.1591+75G>A chr1.hg19:g.16907164C>T NA Q8N4E8|Q9C0H0 hg19 0.02 1.765831 GTGxGTA COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 0 2.407778 KEEP 1 0 0 8 274 CC 0.99257 0.989754 0 - 5 60 163 0 0 11.069595 59 60 2043 81 ENST00000430580.2 0.078125 0.997163 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16907303 16907303 __UNKNOWN__ Missense_Mutation SNP C C T rs681623 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16907303C>T ENST00000430580.2 - 16 2415 c.1528G>A c.(1528-1530)Gct>Act p.A510T NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 510 NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA A -> T (in dbSNP:rs681623). {ECO:0000269|PubMed:11214970}. cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACAACCAGAGCTGAGTTGACT 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1179 1182 1181 NA NA NA 1 NA NA 16907303 2203 4300 6503 SO:0001583 missense AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.1528G>A chr1.hg19:g.16907303C>T ENSP00000474456:p.Ala510Thr NA Q8N4E8|Q9C0H0 hg19 0.02 3.783528 GAGxTGA COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 1 7.824441 KEEP 5 0 0 26 890 CC 0.999931 0.999931 0 - 6 36 211 0 0 13.288678 130 60 4653 186 ENST00000430580.2 0.044118 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16907898 16907898 __UNKNOWN__ Intron SNP T T C rs9729869 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16907898T>C ENST00000430580.2 - 15 2267 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TACTTGCTCCTGAGTATTCAG 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C 78,2900 0,78,1411 217 243 234 NA 0.8 0 1 dbSNP_119 234 51,5327 0,51,2638 no intron NBPF1 NM_017940.3 0,129,4049 CC,CT,TT NA 0.9483,2.6192,1.5438 16907898 129,8227 1489 2689 4178 SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.1379+16A>G chr1.hg19:g.16907898T>C NA Q8N4E8|Q9C0H0 hg19 0.02 1.733686 TCCxGAG UNCOVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 1 2.707793 KEEP 9 0 0 9 271 TT 0 0 0 - 6 40 192 0 0 13.991325 46 60 1602 90 ENST00000430580.2 0.115385 0.967425 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16918473 16918473 __UNKNOWN__ Missense_Mutation SNP G G A rs60465633 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16918473G>A ENST00000430580.2 - 7 931 c.44C>T c.(43-45)aCg>aTg p.T15M NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 15 NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TAAAATGTTCGTCTCTGCCTT 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 365 354 358 NA NA NA 1 NA NA 16918473 2201 4299 6500 SO:0001583 missense AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.44C>T chr1.hg19:g.16918473G>A ENSP00000474456:p.Thr15Met NA Q8N4E8|Q9C0H0 hg19 0.02 3.843782 TTCxTCT COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 1 2.742485 KEEP 1 1 28 19 650 GG 0.999863 0.999861 0 - 14 59 484 0 0 36.948621 95 60 3295 166 ENST00000430580.2 0.12844 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16973648 16973648 __UNKNOWN__ IGR SNP A A G rs2261168 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16973648A>G NA NA CROCCP2 (12594 upstream) : RNU1-3 (19631 downstream) NA NA NA GAGTGGAGGGACAAGCCCACG 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16973648A>G NA hg19 0.02 11.962844 GGGxCAA COVERED NOVEL 0 1 2.9012 KEEP 16 6 180 73 2049 AA 1 1 0 13 27 437 0 0 26.874082 303 60 9742 489 0.041139 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16973996 16973996 __UNKNOWN__ IGR SNP A A G rs200256873 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16973996A>G NA NA CROCCP2 (12942 upstream) : RNU1-3 (19283 downstream) NA NA NA TATTGCCGGAATCCTGACGGC 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16973996A>G NA hg19 0.02 4.575311 GGAxTCC COVERED NOVEL 0 1 5.402555 KEEP 10 0 0 18 514 AA 0.999366 0.999363 0 11 47 395 0 0 29.178015 100 48 3380 177 0.099099 0.999996 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16975365 16975365 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16975365C>T NA NA CROCCP2 (14311 upstream) : RNU1-3 (17914 downstream) NA NA NA CCAGCCCACCCCATCCTACAG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16975365C>T NA hg19 0.02 18.256755 ACCxCAT COVERED NOVEL 0 3 2.614066 KEEP 91 6 183 73 2432 CC 1 1 0 60 49 2015 0 0 152.099385 412 50 14087 718 0.127119 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16977522 16977522 __UNKNOWN__ IGR SNP A A C rs71244378 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16977522A>C NA NA CROCCP2 (16468 upstream) : RNU1-3 (15757 downstream) NA NA NA TTTTAAAAAAACATTAAACAG 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16977522A>C NA hg19 0.02 18.608575 AAAxCAT COVERED NOVEL 0 4 2.503071 KEEP 51 3 96 42 1241 AA 1 1 0 21 40 664 0 0 38.988265 486 60 16565 700 0.04142 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16977981 16977981 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16977981G>A NA NA CROCCP2 (16927 upstream) : RNU1-3 (15298 downstream) NA NA NA CCCCTAGACCGTTTTTATACT 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16977981G>A NA hg19 0.02 23.264973 ACCxTTT COVERED NOVEL 0 9 12.334595 KEEP 122 3 70 66 2085 GG 1 1 0 19 39 625 1 0 33.939096 665 60 21755 950 0.027778 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16978031 16978031 __UNKNOWN__ IGR SNP C C A rs2257731 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:16978031C>A NA NA CROCCP2 (16977 upstream) : RNU1-3 (15248 downstream) NA NA NA ATTCTGTTAGCTTGATCTCCT 0.423 NA NA .||| 2599 0.51897 0.5038 0.5 5008 , , NA 49350 0.6458 NA 0.4652 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16978031C>A NA hg19 0.02 29.833786 TAGxTTG COVERED NOVEL 0 7 10.628884 KEEP 51 3 93 68 2351 CC 1 1 0 30 49 1015 0 0 60.002341 789 60 28365 1091 0.03663 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17082975 17082975 __UNKNOWN__ RNA SNP A A G rs1033403 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:17082975A>G ENST00000455405.2 - 0 1613 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA CAGAGGACAAATAATTTGTTT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown NA macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17082975A>G NA B7WPB1|Q13209 hg19 0.02 31.027713 CAAxTAA COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 6 18.69029 KEEP 83 4 137 110 3403 AA 1 1 0 - 68 47 2435 0 0 175.676715 713 60 24964 1144 ENST00000455405.2 0.087068 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17083837 17083837 __UNKNOWN__ RNA SNP T T C rs7798 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:17083837T>C ENST00000455405.2 - 0 751 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA CTAATTCCTTTCAGGACCCAG 0.572 NA NA .||| 796 0.158946 0.3442 0.147 5008 , , NA 39830 0.0139 NA 0.1183 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown NA macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17083837T>C NA B7WPB1|Q13209 hg19 0.02 6.460522 CTTxCAG COVERED . . . . . . . . . . . 4.613 0.113916 0.08831 . . ENSG00000186715 ENST00000334998;ENST00000442552 . . . . . . Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.354697 0.20253 N 0.096033 T 0.15478 0.0373 . . . . . . B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.31752 -0.9932 6 0.07030 T 0.85 . 4.4522 0.11626 0.0:0.6658:0.0:0.3342 rs7798;rs1065517;rs3206536;rs4661972;rs9329464;rs11545932;rs17349417;rs7798 654;680 Q2TV78-2;Q2TV78 .;MSTP9_HUMAN E 654;680 . ENSP00000439273:K654E K - 1 0 MST1P9 16956424 1.000000 0.71417 0.916000 0.36221 0.000000 0.00434 2.244000 0.43124 -0.406000 0.07588 0.000000 0.15137 AAA NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 1 6.920064 KEEP 27 0 0 23 710 TT 0.999869 0.999869 0 - 9 40 308 0 0 20.68314 128 50 4323 237 ENST00000455405.2 0.065693 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17085671 17085671 __UNKNOWN__ IGR SNP C C G rs3863806 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:17085671C>G NA NA MST1L (304 upstream) : RP11-108M9.1 (92144 downstream) NA NA NA AGTCTGCGGCCGGTGCGGGCA 0.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.17085671C>G NA hg19 0.02 1.698886 GGCxGGT COVERED NOVEL 0 1 3.31028 KEEP 2 0 0 11 363 CC 0.992708 0.992544 0 8 49 271 0 0 19.238991 81 50 2616 124 0.089888 0.999835 KIF17 57576 __UNKNOWN__ __UNKNOWN__ 1 21036094 21036094 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:21036094T>G ENST00000247986.2 - 4 981 KIF17_ENST00000375044.1_Intron|KIF17_ENST00000400463.3_Intron Q9P2E2 KIF17_HUMAN kinesin family member 17 NA NA ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574) NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) AGTGGCTGGGTCATCTGTCCC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 39 43 NA NA NA 1 NA NA 21036094 2203 4299 6502 SO:0001627 intron_variant AB037826 CCDS213.1, CCDS44079.1, CCDS72722.1 1p36.13 2012-08-01 ENSG00000117245 ENSG00000117245 57576 Kinesins 19167 protein-coding gene gene with protein product kinesin-like protein KIF17, KIF3-related motor protein, KIF17 variant protein 605037 NA 10846156 Standard NM_020816 XR_241202 NA Approved KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2 uc001bdr.4 Q9P2E2 OTTHUMG00000002863 ENST00000247986.2:c.670+37A>C chr1.hg19:g.21036094T>G NA A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411 hg19 CCDS213.1 0.02 1.662639 GGGxCAT COVERED NOVEL KIF17-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276995.1 1 6.984696 KEEP 0 3 20 31 771 TT 0.999998 0.999998 0 - 32 60 307 0 0 9.364462 172 60 4742 293 ENST00000247986.2 0.156863 1 LDLRAD2 401944 __UNKNOWN__ __UNKNOWN__ 1 22148689 22148689 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22148689C>A ENST00000344642.2 + 5 992 LDLRAD2_ENST00000543870.1_Intron|LDLRAD2_ENST00000484271.1_3'UTR NM_001013693.2 NP_001013715.2 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain containing 2 NA NA integral component of membrane (GO:0016021) endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) TCTGCCCCATCCACAGGCTCC 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 54 60 58 NA NA NA 1 NA NA 22148689 2203 4300 6503 SO:0001627 intron_variant AL590103 CCDS30624.1 1p36.12 2008-02-05 2005-10-07 ENSG00000187942 ENSG00000187942 401944 32071 protein-coding gene gene with protein product NA low density lipoprotein receptor A domain containing 2 NA Standard NM_001013693 NM_001013693 NA Approved uc001bfg.1 Q5SZI1 OTTHUMG00000002675 ENST00000344642.2:c.806-6C>A chr1.hg19:g.22148689C>A NA B9EJB3|Q6ZSN5 hg19 CCDS30624.1 0.02 14.988702 CATxCAC COVERED NOVEL LDLRAD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007601.1 0 13.241899 KEEP 0 0 0 44 1487 CC 1 1 0 + 50 60 1643 0 0 122.053942 362 60 12906 545 ENST00000344642.2 0.121359 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22150151 22150151 __UNKNOWN__ Missense_Mutation SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22150151C>A ENST00000374695.3 - 96 13040 c.12961G>T c.(12961-12963)Ggt>Tgt p.G4321C LDLRAD2_ENST00000543870.1_Intron|LDLRAD2_ENST00000344642.2_3'UTR|HSPG2_ENST00000486901.1_5'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 4321 Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) ACGTTGGGACCTGGGGACCGG 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 100 96 97 NA NA NA 1 NA NA 22150151 2203 4300 6503 SO:0001583 missense M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.12961G>T chr1.hg19:g.22150151C>A ENSP00000363827:p.Gly4321Cys NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 14.059587 GACxTGG COVERED . . . . . . . . . . C 31 5.067959 0.93950 . . ENSG00000142798 ENST00000374695 T 0.72394 -0.65 5.03 5.03 0.67393 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1); 0.000000 0.38005 N 0.001842 D 0.87589 0.6215 M 0.92412 3.305 0.58432 D 0.999998 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.90701 0.4620 10 0.87932 D 0 . 15.8595 0.79012 0.0:1.0:0.0:0.0 . 2261;4321 Q59EG0;P98160 .;PGBM_HUMAN C 4321 ENSP00000363827:G4321C ENSP00000363827:G4321C G - 1 0 HSPG2 22022738 1.000000 0.71417 1.000000 0.80357 0.937000 0.57800 6.446000 0.73460 2.319000 0.78375 0.655000 0.94253 GGT NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 1 19.562621 KEEP 0 0 0 65 2264 CC 1 1 0 - 60 60 2042 0 0 160.752325 323 60 11538 573 ENST00000374695.3 0.156658 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22155510 22155510 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22155510C>G ENST00000374695.3 - 88 12134 c.12055G>C c.(12055-12057)Gag>Cag p.E4019Q HSPG2_ENST00000486901.1_5'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 4019 Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) TTGAGACGCTCTGCAGACACA 0.706 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 18 19 NA NA NA 1 NA NA 22155510 2175 4265 6440 SO:0001583 missense M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.12055G>C chr1.hg19:g.22155510C>G ENSP00000363827:p.Glu4019Gln NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 4.427471 GCTxTGC COVERED . . . . . . . . . . C 16.75 3.209313 0.58343 . . ENSG00000142798 ENST00000374695 T 0.76968 -1.06 4.94 4.94 0.65067 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1); 0.000000 0.39834 N 0.001258 D 0.84534 0.5493 L 0.52266 1.64 0.34185 D 0.671356 D;D 0.76494 0.999;0.999 D;D 0.83275 0.993;0.996 D 0.86909 0.2059 10 0.33141 T 0.24 . 16.7185 0.85404 0.0:1.0:0.0:0.0 . 1959;4019 Q59EG0;P98160 .;PGBM_HUMAN Q 4019 ENSP00000363827:E4019Q ENSP00000363827:E4019Q E - 1 0 HSPG2 22028097 1.000000 0.71417 0.930000 0.37139 0.558000 0.35554 7.293000 0.78740 2.287000 0.76781 0.462000 0.41574 GAG NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 0 6.320431 KEEP 0 0 0 21 733 CC 0.999869 0.999869 0 - 17 60 605 0 0 46.800508 114 60 4123 188 ENST00000374695.3 0.129771 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22157565 22157565 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22157565C>T ENST00000374695.3 - 85 11660 c.11581G>A c.(11581-11583)Gac>Aac p.D3861N NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3861 EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) CTCTCAGAGTCATGGCACTGA 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 26 29 28 NA NA NA 1 NA NA 22157565 2198 4297 6495 SO:0001583 missense M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.11581G>A chr1.hg19:g.22157565C>T ENSP00000363827:p.Asp3861Asn NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 13.662886 AGTxATG COVERED . . . . . . . . . . c 19.24 3.789235 0.70337 . . ENSG00000142798 ENST00000374695 D 0.92348 -3.02 5.46 4.54 0.55810 EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1); 0.000000 0.40818 N 0.001020 D 0.92554 0.7635 N 0.25426 0.745 0.35645 D 0.811268 D;D 0.89917 1.0;0.999 D;D 0.85130 0.992;0.997 D 0.94418 0.7638 10 0.48119 T 0.1 . 13.3719 0.60717 0.0:0.8419:0.1581:0.0 . 1801;3861 Q59EG0;P98160 .;PGBM_HUMAN N 3861 ENSP00000363827:D3861N ENSP00000363827:D3861N D - 1 0 HSPG2 22030152 1.000000 0.71417 0.850000 0.33497 0.415000 0.31203 7.176000 0.77643 1.285000 0.44548 0.457000 0.33378 GAC NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 1 14.975475 KEEP 0 1 26 59 2015 CC 1 1 0 - 46 60 1540 0 0 114.305956 348 60 12348 551 ENST00000374695.3 0.116751 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22158025 22158025 __UNKNOWN__ Nonsense_Mutation SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22158025C>A ENST00000374695.3 - 83 11462 c.11383G>T c.(11383-11385)Gaa>Taa p.E3795* NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3795 Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) AGGTAGAGTTCCTCGTTCAGA 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 59 64 63 NA NA NA 1 NA NA 22158025 2203 4300 6503 SO:0001587 stop_gained M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.11383G>T chr1.hg19:g.22158025C>A ENSP00000363827:p.Glu3795* NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 9.267853 GTTxCTC COVERED . . . . . . . . . . c 54 21.910740 0.99944 . . ENSG00000142798 ENST00000374695 . . . 5.28 5.28 0.74379 . 0.000000 0.39615 N 0.001311 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.23302 T 0.38 . 17.4764 0.87660 0.0:1.0:0.0:0.0 . . . . X 3795 . ENSP00000363827:E3795X E - 1 0 HSPG2 22030612 1.000000 0.71417 1.000000 0.80357 0.904000 0.53231 5.684000 0.68197 2.455000 0.83008 0.457000 0.33378 GAA NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 2 9.930601 KEEP 0 0 0 33 1083 CC 0.999998 0.999998 0 - 38 60 1222 0 0 91.977575 245 60 8528 386 ENST00000374695.3 0.134276 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22159003 22159003 __UNKNOWN__ Missense_Mutation SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22159003C>A ENST00000374695.3 - 81 11271 c.11192G>T c.(11191-11193)gGa>gTa p.G3731V NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3731 Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) CTCGGGCCTTCCCCCCACGAG 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 GRCh37 CD065738 HSPG2 D 55 58 57 NA NA NA 1 NA NA 22159003 2203 4300 6503 SO:0001583 missense M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.11192G>T chr1.hg19:g.22159003C>A ENSP00000363827:p.Gly3731Val NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 5.454928 CTTxCCC COVERED . . . . . . . . . . C 22.3 4.266363 0.80358 . . ENSG00000142798 ENST00000374695 D 0.86769 -2.17 4.63 4.63 0.57726 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 0.000000 0.38272 N 0.001741 D 0.95395 0.8505 H 0.95079 3.62 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.83275 0.987;0.996 D 0.96504 0.9373 10 0.62326 D 0.03 . 16.2115 0.82165 0.0:1.0:0.0:0.0 . 1671;3731 Q59EG0;P98160 .;PGBM_HUMAN V 3731 ENSP00000363827:G3731V ENSP00000363827:G3731V G - 2 0 HSPG2 22031590 1.000000 0.71417 0.586000 0.28679 0.830000 0.47004 6.714000 0.74692 2.402000 0.81655 0.561000 0.74099 GGA NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 0 6.921446 KEEP 0 0 0 23 770 CC 0.999892 0.999892 0 - 21 60 663 0 0 49.271861 140 60 4828 229 ENST00000374695.3 0.130435 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22159789 22159789 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22159789C>G ENST00000374695.3 - 80 11146 c.11067G>C c.(11065-11067)aaG>aaC p.K3689N NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3689 Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) GGAAGGTGATCTTGATCTCGA 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 78 69 72 NA NA NA 1 NA NA 22159789 2203 4300 6503 SO:0001583 missense M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.11067G>C chr1.hg19:g.22159789C>G ENSP00000363827:p.Lys3689Asn NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 13.305578 GATxTTG COVERED . . . . . . . . . . C 15.95 2.982566 0.53827 . . ENSG00000142798 ENST00000374695 T 0.79454 -1.27 4.98 2.99 0.34606 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2); 0.370027 0.19491 N 0.112983 T 0.68796 0.3040 L 0.34521 1.04 0.38604 D 0.950727 B;B 0.29835 0.258;0.22 B;B 0.37550 0.253;0.069 T 0.68127 -0.5491 10 0.34782 T 0.22 . 9.9378 0.41561 0.0:0.7755:0.1418:0.0828 . 1629;3689 Q59EG0;P98160 .;PGBM_HUMAN N 3689 ENSP00000363827:K3689N ENSP00000363827:K3689N K - 3 2 HSPG2 22032376 1.000000 0.71417 1.000000 0.80357 0.962000 0.63368 1.754000 0.38369 2.302000 0.77476 0.313000 0.20887 AAG NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 3 15.03852 KEEP 0 0 0 50 1646 CC 1 1 0 - 39 60 1421 0 0 108.492157 294 60 10465 458 ENST00000374695.3 0.117117 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22159955 22159955 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22159955C>G ENST00000374695.3 - 79 11058 NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 NA NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) GGGGTGGTGTCTTACCTGGCA 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 60 63 NA NA NA 1 NA NA 22159955 2203 4300 6503 SO:0001627 intron_variant M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.10978+4G>C chr1.hg19:g.22159955C>G NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 11.062142 TGTxTTA COVERED NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 0 9.028707 KEEP 0 0 0 30 1026 CC 0.999997 0.999997 0 - 26 60 921 0 0 67.323712 245 60 8769 346 ENST00000374695.3 0.095941 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22201085 22201085 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22201085G>T ENST00000374695.3 - 27 3608 NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 NA NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) TTGCTGGGGTGGGCGGAAGGA 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 27 26 26 NA NA NA 1 NA NA 22201085 2203 4300 6503 SO:0001627 intron_variant M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.3528+23C>A chr1.hg19:g.22201085G>T NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 5.633997 GGTxGGC COVERED NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 1 12.33732 KEEP 0 0 0 41 1341 GG 1 1 0 - 7 60 237 0 0 14.745016 144 60 4808 224 ENST00000374695.3 0.046358 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22201505 22201505 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:22201505A>C ENST00000374695.3 - 26 3382 NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 NA NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) CCTGGGCGTGacaagacccag 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 29 25 26 NA NA NA 1 NA NA 22201505 2194 4293 6487 SO:0001627 intron_variant M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.3303-10T>G chr1.hg19:g.22201505A>C NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 7.57021 GTGxCAA COVERED NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 0 13.537528 KEEP 0 0 0 45 1333 AA 1 1 0 - 10 60 335 0 0 20.093133 238 60 7984 360 ENST00000374695.3 0.040323 1 LUZP1 7798 __UNKNOWN__ __UNKNOWN__ 1 23419013 23419013 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:23419013C>T ENST00000302291.4 - 4 2543 c.1742G>A c.(1741-1743)gGc>gAc p.G581D LUZP1_ENST00000374623.3_Missense_Mutation_p.G581D|LUZP1_ENST00000314174.5_Missense_Mutation_p.G581D|LUZP1_ENST00000418342.1_Missense_Mutation_p.G581D Q86V48 LUZP1_HUMAN leucine zipper protein 1 581 NA artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281) membrane (GO:0016020)|nucleus (GO:0005634) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) AGCCTTTTTGCCTTTAGAGAG 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 62 63 63 NA NA NA 1 NA NA 23419013 2203 4300 6503 SO:0001583 missense BC051733 CCDS30628.1 1p36 2008-02-05 ENSG00000169641 ENSG00000169641 7798 14985 protein-coding gene gene with protein product 601422 NA 8812416 Standard NM_033631 NM_033631 NA Approved LUZP uc010odv.1 Q86V48 OTTHUMG00000003227 ENST00000302291.4:c.1742G>A chr1.hg19:g.23419013C>T ENSP00000303758:p.Gly581Asp NA Q5TH93|Q8N4X3|Q8TEH1 hg19 CCDS30628.1 0.02 7.813033 TTGxCTT COVERED . . . . . . . . . . C 15.69 2.907428 0.52333 . . ENSG00000169641 ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174 T;T;T;T 0.14766 2.69;2.69;2.69;2.48 5.88 5.88 0.94601 . 0.276517 0.26140 N 0.026108 T 0.15825 0.0381 L 0.54323 1.7 0.35180 D 0.772406 B;B 0.24426 0.061;0.103 B;B 0.27715 0.082;0.082 T 0.09574 -1.0668 10 0.29301 T 0.29 . 12.5672 0.56316 0.0:0.9248:0.0:0.0752 . 581;581 Q86V48-2;Q86V48 .;LUZP1_HUMAN D 581 ENSP00000393460:G581D;ENSP00000363752:G581D;ENSP00000303758:G581D;ENSP00000313705:G581D ENSP00000303758:G581D G - 2 0 LUZP1 23291600 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 3.118000 0.50414 2.804000 0.96469 0.650000 0.86243 GGC NOVEL LUZP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008900.3 3 10.533132 KEEP 0 0 0 35 1161 CC 0.999999 0.999999 0 - 70 60 2323 0 0 202.195657 174 60 6134 301 ENST00000302291.4 0.286885 1 FUCA1 2517 __UNKNOWN__ __UNKNOWN__ 1 24190178 24190178 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:24190178C>A ENST00000374479.3 - 3 532 NM_000147.4 NP_000138.2 P04066 FUCO_HUMAN fucosidase, alpha-L- 1, tissue NA NA fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806) breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) cttgtctccacaaaaactgta 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017338 CCDS244.2 1p34 2012-10-02 ENSG00000179163 ENSG00000179163 2517 3.2.1.51 4006 protein-coding gene gene with protein product 612280 NA 2803312 Standard NM_000147 NM_000147 NA Approved uc001bie.3 P04066 OTTHUMG00000002965 ENST00000374479.3:c.525-417G>T chr1.hg19:g.24190178C>A NA B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2 hg19 CCDS244.2 0.02 -0.043867 CCAxAAA UNCOVERED NOVEL FUCA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008259.2 1 2.40771 KEEP 0 0 0 8 270 CC 0.99257 0.023895 0 - 3 60 109 0 0 10.869763 2 60 76 16 ENST00000374479.3 0.6 0.024074 PNRC2 55629 __UNKNOWN__ __UNKNOWN__ 1 24288193 24288193 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:24288193G>C ENST00000334351.7 + 3 657 c.246G>C c.(244-246)agG>agC p.R82S PNRC2_ENST00000374468.1_Missense_Mutation_p.R82S NM_017761.3 NP_060231.1 Q9NPJ4 PNRC2_HUMAN proline-rich nuclear receptor coactivator 2 82 NA deadenylation-independent decapping of nuclear-transcribed mRNA (GO:0031087)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634) NA Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Myeloproliferative disorder(586;0.0393)|Breast(348;0.0448)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.59e-24)|Colorectal(126;2.18e-08)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;2.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|KIRC - Kidney renal clear cell carcinoma(1967;0.00325)|STAD - Stomach adenocarcinoma(196;0.00841)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.141) CAGGTCCCAGGTTACTTTTTA 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF151042 CCDS246.1 1p36.11 2008-02-05 ENSG00000189266 ENSG00000189266 55629 23158 protein-coding gene gene with protein product 611882 NA 11574675 Standard NM_017761 NM_017761 NA Approved uc001big.3 Q9NPJ4 OTTHUMG00000013891 ENST00000334351.7:c.246G>C chr1.hg19:g.24288193G>C ENSP00000334840:p.Arg82Ser NA B4DU72 hg19 CCDS246.1 0.02 5.880998 CAGxTTA COVERED . . . . . . . . . . g 0.437 -0.900520 0.02472 . . ENSG00000189266 ENST00000334351;ENST00000374468 T;T 0.40756 1.02;1.02 3.59 1.69 0.24217 . 0.423369 0.21276 N 0.077225 T 0.12689 0.0308 N 0.01352 -0.895 0.21841 N 0.999512 B 0.02656 0.0 B 0.01281 0.0 T 0.28299 -1.0048 9 . . . -30.5121 6.1468 0.20291 0.0:0.5361:0.291:0.1729 . 82 Q9NPJ4 PNRC2_HUMAN S 82 ENSP00000334840:R82S;ENSP00000363592:R82S . R + 3 2 PNRC2 24160780 0.826000 0.29277 0.915000 0.36163 0.981000 0.71138 0.364000 0.20325 0.342000 0.23796 -0.224000 0.12420 AGG NOVEL PNRC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000038946.1 2 8.096178 KEEP 6 2 69 51 1722 GG 1 1 0 + 12 27 432 0 0 29.439901 180 60 6345 281 ENST00000334351.7 0.0625 1 CLIC4 25932 __UNKNOWN__ __UNKNOWN__ 1 25170593 25170593 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:25170593C>A ENST00000374379.4 + 0 4124 NM_013943.2 NP_039234.1 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 NA NA angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035) actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247) large_intestine(3)|lung(2)|skin(1) 6 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) TTCAACTCCTCAAGCCGTAAT 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF097330 CCDS256.1 1p 2012-09-26 ENSG00000169504 ENSG00000169504 25932 Ion channels / Chloride channels : Intracellular 13518 protein-coding gene gene with protein product 606536 NA 9139710, 10070163 Standard NM_013943 NM_013943 NA Approved DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1 uc001bjo.2 Q9Y696 OTTHUMG00000003327 ENST00000374379.4:c.*3165C>A chr1.hg19:g.25170593C>A NA Q9UFW9|Q9UQJ6 hg19 CCDS256.1 0.02 2.215429 CCTxAAG COVERED NOVEL CLIC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009332.1 0 6.606951 KEEP 0 0 0 22 657 CC 0.999879 0.999879 0 + 15 60 231 0 0 9.89877 131 60 3621 200 ENST00000374379.4 0.10274 1 SMPDL3B 27293 __UNKNOWN__ __UNKNOWN__ 1 28269320 28269320 __UNKNOWN__ Intron SNP G G A rs7417093 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:28269320G>A ENST00000373894.3 + 2 252 SMPDL3B_ENST00000466793.1_Intron|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Intron|SMPDL3B_ENST00000549094.1_Intron NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B NA NA sphingomyelin catabolic process (GO:0006685) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767) endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) gattacaggcgtgagccactg 0.537 NA NA G||| 2474 0.49401 0.3949 0.4395 5008 , , NA 18501 0.5238 NA 0.4722 False NA ,,, NA NA NA 2504 0.6585 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y08134 CCDS30655.1, CCDS30656.1 1p35.3 2008-02-05 ENSG00000130768 ENSG00000130768 27293 21416 protein-coding gene gene with protein product NA NA Standard NM_014474 NM_014474 NA Approved ASML3B uc001bpg.3 Q92485 OTTHUMG00000003910 ENST00000373894.3:c.62-2423G>A chr1.hg19:g.28269320G>A NA B7ZB35|Q5T0Z0|Q96CB7 hg19 CCDS30655.1 0.02 -0.035093 GGCxTGA UNCOVERED NOVEL SMPDL3B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000011170.1 5 2.707894 KEEP 2 0 0 9 298 GG 0 0 0 + 3 60 109 0 0 11.354326 1 60 36 17 ENST00000373894.3 0.75 0.019982 BMP8A 353500 __UNKNOWN__ __UNKNOWN__ 1 39957913 39957913 __UNKNOWN__ Missense_Mutation SNP A A G rs4660269 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:39957913A>G ENST00000331593.5 + 1 596 c.250A>G c.(250-252)Atg>Gtg p.M84V NM_181809.3 NP_861525.2 Q7Z5Y6 BMP8A_HUMAN bone morphogenetic protein 8a 84 NA M -> V (in dbSNP:rs4660269). cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505) extracellular space (GO:0005615) kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTACCACGCCATGGCTGGCGA 0.771 NA NA A||| 3367 0.672324 0.2897 0.8069 5008 , , NA 8040 0.6825 NA 0.8887 False NA ,,, NA NA NA 2504 0.8609 NA NA NA NA NA 0 A VAL/MET 1486,1350 387,712,319 7 9 8 NA 250 3.3 1 1 dbSNP_111 8 5431,485 2501,429,28 no missense BMP8A NM_181809.3 21 2888,1141,347 GG,GA,AA NA 8.1981,47.6023,20.9666 benign 84/403 39957913 6917,1835 1418 2958 4376 SO:0001583 missense AY303954 CCDS437.1 1p35-p32 2014-01-30 ENSG00000183682 ENSG00000183682 353500 Bone morphogenetic proteins, Endogenous ligands 21650 protein-coding gene gene with protein product NA NA Standard NM_181809 NM_181809 NA Approved uc001cdi.3 Q7Z5Y6 OTTHUMG00000008394 ENST00000331593.5:c.250A>G chr1.hg19:g.39957913A>G ENSP00000327440:p.Met84Val NA Q5T3A5 hg19 CCDS437.1 0.02 4.341846 GCCxTGG COVERED 1496 0.684981684981685 135 0.27439024390243905 297 0.8204419889502762 384 0.6713286713286714 680 0.8970976253298153 a 12.21 1.871113 0.33069 0.523977 0.918019 ENSG00000183682 ENST00000331593 T 0.64438 -0.1 3.32 3.32 0.38043 Transforming growth factor-beta, N-terminal (1); 0.094831 0.64402 U 0.000001 T 0.00012 0.0000 L 0.36672 1.1 0.25817 P 0.984325 B 0.13594 0.008 B 0.18263 0.021 T 0.28996 -1.0026 8 . . . . 7.876 0.29595 0.8917:0.0:0.1083:0.0 rs4660269 84 Q7Z5Y6 BMP8A_HUMAN V 84 ENSP00000327440:M84V . M + 1 0 BMP8A 39730500 1.000000 0.71417 1.000000 0.80357 0.758000 0.43043 2.578000 0.46051 1.285000 0.44548 0.254000 0.18369 ATG NOVEL BMP8A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023079.1 0 2.407239 KEEP 0 0 0 8 247 AA 0.99257 0.992568 0 + 62 60 1966 0 0 190.607706 56 60 1881 151 ENST00000331593.5 0.525424 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 40986529 40986529 __UNKNOWN__ IGR SNP G G A rs56047779 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:40986529G>A NA NA RP11-656D10.6 (3683 upstream) : ZNF684 (10703 downstream) NA NA NA ttgggaggccgaggtgggtgg 0.463 NA NA g||| 534 0.106629 0.062 0.111 5008 , , NA 19088 0.0288 NA 0.1839 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.40986529G>A NA hg19 0.02 -0.166674 GCCxAGG UNCOVERED NOVEL 0 4 2.708931 KEEP 4 0 0 9 323 GG 0 0 0 10 60 345 0 0 33.562644 9 60 301 38 0.526316 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 40986535 40986535 __UNKNOWN__ IGR SNP G G A rs55818767 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:40986535G>A NA NA RP11-656D10.6 (3689 upstream) : ZNF684 (10697 downstream) NA NA NA ggccgaggtgggtggatcacg 0.483 NA NA g||| 534 0.106629 0.062 0.111 5008 , , NA 18792 0.0288 NA 0.1839 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.40986535G>A NA hg19 0.02 -0.157915 GTGxGTG UNCOVERED NOVEL 0 4 2.707772 KEEP 4 0 0 9 305 GG 0 0 0 10 60 364 0 0 35.800617 8 60 283 37 0.555556 0.322807 SZT2 23334 __UNKNOWN__ __UNKNOWN__ 1 43913623 43913623 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:43913623G>C ENST00000562955.1 + 67 9373 c.9373G>C c.(9373-9375)Gct>Cct p.A3125P SZT2_ENST00000372442.1_Missense_Mutation_p.A2283P|SZT2-AS1_ENST00000396885.2_RNA NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3182 NA central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668) extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GCAAGGAGAGGCTGAGCGGCA 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 95 90 92 NA NA NA 1 NA NA 43913623 2203 4300 6503 SO:0001583 missense AB007936 CCDS30694.1, CCDS30694.2 1p34.2 2012-11-19 2011-06-10 2011-06-10 ENSG00000198198 ENSG00000198198 23334 29040 protein-coding gene gene with protein product seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse) 615463 chromosome 1 open reading frame 84, KIAA0467 C1orf84, KIAA0467 NA 9455484 Standard NM_015284 NM_015284 NA Approved FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A uc001cjk.3 Q5T011 OTTHUMG00000007423 ENST00000562955.1:c.9373G>C chr1.hg19:g.43913623G>C ENSP00000457168:p.Ala3125Pro NA A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8 hg19 CCDS30694.2 0.02 26.880315 GAGxCTG COVERED . . . . . . . . . . G 13.37 2.217378 0.39201 . . ENSG00000198198 ENST00000372442 . . . 5.69 5.69 0.88448 . 0.547841 0.20595 N 0.089261 T 0.48095 0.1481 N 0.19112 0.55 0.09310 N 0.999999 D;D 0.71674 0.998;0.995 D;P 0.65443 0.935;0.836 T 0.42882 -0.9425 9 0.41790 T 0.15 . 15.32 0.74115 0.0:0.1393:0.8607:0.0 . 3182;3125 Q5T011;Q5T011-5 SZT2_HUMAN;. P 2283 . ENSP00000361519:A2283P A + 1 0 SZT2 43686210 0.993000 0.37304 0.996000 0.52242 0.993000 0.82548 5.203000 0.65174 2.688000 0.91661 0.563000 0.77884 GCT NOVEL SZT2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019517.3 6 18.05684 KEEP 0 0 0 60 2027 GG 1 1 0 + 215 60 7562 0 0 686.562229 397 60 13768 765 ENST00000562955.1 0.351307 1 ST3GAL3 6487 __UNKNOWN__ __UNKNOWN__ 1 44256522 44256522 __UNKNOWN__ Intron SNP T T G rs12044961 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:44256522T>G ENST00000361392.4 + 3 295 ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372368.2_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361746.4_Intron|ST3GAL3_ENST00000372375.2_Intron|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000262915.3_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372372.2_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000351035.3_Intron NM_001270459.1|NM_006279.3|NM_174964.2 NP_001257388.1|NP_006270.1|NP_777624.1 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) ttgaccaggatggtctcgatc 0.507 NA NA T||| 1202 0.240016 0.3585 0.2795 5008 , , NA 16532 0.1875 NA 0.1402 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L23768 CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1 1p34.1 2014-01-31 2005-02-07 2005-02-07 ENSG00000126091 ENSG00000126091 6487 2.4.99.6 Sialyltransferases 10866 protein-coding gene gene with protein product ST3Gal III 606494 sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase), mental retardation, non-syndromic, autosomal recessive, 12 SIAT6, MRT12 NA 8333853, 21907012 Standard NM_174963 NM_174963 NA Approved uc001cjz.4 Q11203 OTTHUMG00000007561 ENST00000361392.4:c.119-1251T>G chr1.hg19:g.44256522T>G NA A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58 hg19 CCDS492.1 0.02 -0.087732 GGAxGGT UNCOVERED NOVEL ST3GAL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019964.1 4 2.707363 KEEP 2 0 0 9 270 TT 0 0 0 + 4 60 149 0 0 13.885621 6 60 215 24 ENST00000361392.4 0.4 0.099721 IPO13 9670 __UNKNOWN__ __UNKNOWN__ 1 44413204 44413204 __UNKNOWN__ 5'UTR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:44413204G>T ENST00000372343.3 + 0 594 NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 NA NA protein import into nucleus (GO:0006606) cytoplasm (GO:0005737)|nucleus (GO:0005634) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TCTAGCAGGGGGCCAGCAGCC 0.736 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB018267 CCDS503.1 1p34.1 2008-02-05 ENSG00000117408 ENSG00000117408 9670 Importins 16853 protein-coding gene gene with protein product 610411 NA 9872452, 11447110 Standard NM_014652 NM_014652 NA Approved IMP13, KIAA0724, RANBP13 uc001ckx.3 O94829 OTTHUMG00000008297 ENST00000372343.3:c.-69G>T chr1.hg19:g.44413204G>T NA D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1 hg19 CCDS503.1 0.02 5.908212 GGGxGCC COVERED NOVEL IPO13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022846.1 0 5.100253 KEEP 0 0 0 17 530 GG 0.999366 0.999366 0 + 23 60 729 0 0 55.64703 132 60 4425 182 ENST00000372343.3 0.148387 1 ZSWIM5 57643 __UNKNOWN__ __UNKNOWN__ 1 45486461 45486461 __UNKNOWN__ Splice_Site SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:45486461C>T ENST00000359600.5 - 12 2655 c.e12-1 NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 NA NA extracellular space (GO:0005615) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) AAAGTGTCTCCTATAGGTGTC 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 178 174 175 NA NA NA 1 NA NA 45486461 1894 4114 6008 SO:0001630 splice_region_variant AB040944 CCDS41319.1 1p34.1 2010-06-16 ENSG00000162415 ENSG00000162415 57643 Zinc fingers, SWIM-type 29299 protein-coding gene gene with protein product NA NA 10819331 Standard XM_046581 NM_020883 NA Approved KIAA1511 uc001cnd.2 Q9P217 OTTHUMG00000008950 ENST00000359600.5:c.2450-1G>A chr1.hg19:g.45486461C>T NA Q5SXQ9 hg19 CCDS41319.1 0.02 15.683054 CTCxTAT COVERED . . . . . . . . . . C 22.4 4.282405 0.80692 . . ENSG00000162415 ENST00000359600 . . . 5.21 5.21 0.72293 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.6389 0.95749 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . ZSWIM5 45259048 1.000000 0.71417 0.976000 0.42696 0.801000 0.45260 7.256000 0.78350 2.815000 0.96918 0.561000 0.74099 . NOVEL ZSWIM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024823.2 4 9.029595 KEEP 0 0 0 30 1067 CC 0.999997 0.999997 0 Intron - 52 60 1864 0 0 146.894886 305 60 11092 485 ENST00000359600.5 0.145658 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 46242066 46242066 __UNKNOWN__ IGR SNP G G C rs61783168 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:46242066G>C NA NA IPP (25745 upstream) : MAST2 (27218 downstream) NA NA NA tgcctcccaggttcaagcaat 0.488 NA NA G||| 241 0.048123 0.0083 0.0821 5008 , , NA 17068 0.001 NA 0.1571 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.46242066G>C NA hg19 0.02 -0.02632 CAGxTTC UNCOVERED NOVEL 0 5 3.008359 KEEP 4 0 0 10 335 GG 0 0 0 3 60 112 0 0 12.631122 0 0 0 18 1 0 MOB3C 148932 __UNKNOWN__ __UNKNOWN__ 1 47074658 47074658 __UNKNOWN__ 3'UTR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:47074658G>T ENST00000371940.1 - 0 4463 MOB3C_ENST00000271139.8_3'UTR|MOB3C_ENST00000319928.3_3'UTR|MKNK1_ENST00000545730.1_Intron Q70IA8 MOB3C_HUMAN MOB kinase activator 3C NA NA metal ion binding (GO:0046872) NA TGATGGAAGAGTGTAGCCTGG 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091808 CCDS539.1, CCDS540.1 1p34.1 2011-09-28 2011-09-28 2011-09-28 ENSG00000142961 ENSG00000142961 148932 MOB kinase activators 29800 protein-coding gene gene with protein product NA MOB1, Mps One Binder kinase activator-like 2C (yeast) MOBKL2C NA 12477932 Standard NM_145279 NM_145279 NA Approved MOB1E uc001cqe.4 Q70IA8 OTTHUMG00000007989 ENST00000371940.1:c.*669C>A chr1.hg19:g.47074658G>T NA D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28 hg19 0.02 14.941872 AGAxTGT COVERED NOVEL MOB3C-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000021926.1 3 8.728257 KEEP 0 0 0 29 1014 GG 0.999997 0.999997 0 - 57 60 1940 0 0 152.923511 303 60 10947 452 ENST00000371940.1 0.158333 1 SLC5A9 200010 __UNKNOWN__ __UNKNOWN__ 1 48714069 48714069 __UNKNOWN__ 3'UTR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:48714069A>G ENST00000438567.2 + 0 2952 SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000236495.5_3'UTR NM_001011547.2 NP_001011547.2 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 NA NA sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 tttgcttgccatgaatccgca 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648549 CCDS30709.2, CCDS44136.1 1p33 2013-07-19 2013-07-19 ENSG00000117834 ENSG00000117834 200010 Solute carriers 22146 protein-coding gene gene with protein product NA solute carrier family 5 (sodium/glucose cotransporter), member 9 NA Standard XM_117174 NM_001011547 NA Approved SGLT4 uc001crn.2 Q2M3M2 OTTHUMG00000007959 ENST00000438567.2:c.*854A>G chr1.hg19:g.48714069A>G NA B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3 hg19 CCDS30709.2 0.02 26.463904 GCCxTGA COVERED NOVEL SLC5A9-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022061.3 2 11.13083 KEEP 0 0 0 37 1120 AA 1 1 0 + 118 60 3931 0 0 317.887131 508 60 17720 803 ENST00000438567.2 0.188498 1 TTC39A 22996 __UNKNOWN__ __UNKNOWN__ 1 51767432 51767432 __UNKNOWN__ 3'UTR SNP C C T rs41287292 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:51767432C>T ENST00000262676.5 - 0 1744 TTC39A_ENST00000262675.7_Intron|TTC39A_ENST00000371747.3_Intron|TTC39A_ENST00000413473.2_Intron|TTC39A_ENST00000371750.5_Intron|TTC39A_ENST00000451380.1_Intron|TTC39A_ENST00000447632.2_Intron Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A NA NA p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 GTCAGCCTGACGGGTGCCCAC 0.637 NA NA C||| 240 0.0479233 0.0893 0.0173 5008 , , NA 17212 0.0615 NA 0.0268 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA NA 2 Whole gene deletion(2) thyroid(1)|central_nervous_system(1) C , 261,3893 10,241,1826 36 39 38 NA , -6.9 0 1 dbSNP_127 38 173,8229 2,169,4030 no intron,intron TTC39A NM_001080494.2,NM_001144832.1 , 12,410,5856 TT,TC,CC NA 2.059,6.2831,3.4565 , , 51767432 434,12122 2077 4201 6278 SO:0001624 3_prime_UTR_variant AB007921 CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1 1p32.3 2013-01-11 2008-06-23 2008-06-23 ENSG00000085831 ENSG00000085831 22996 Tetratricopeptide (TTC) repeat domain containing 18657 protein-coding gene gene with protein product NA chromosome 1 open reading frame 34 C1orf34 NA 9455484, 9461476 Standard XM_005270643 NA Approved KIAA0452, DEME-6 uc010onf.2 Q5SRH9 OTTHUMG00000008193 ENST00000262676.5:c.*321G>A chr1.hg19:g.51767432C>T NA B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24 hg19 0.02 13.239664 TGAxGGG COVERED NOVEL TTC39A-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000022432.2 1 7.822933 KEEP 0 0 0 26 830 CC 0.999957 0.999957 0 - 61 60 2058 0 0 160.97866 336 60 10689 457 ENST00000262676.5 0.153652 1 TTC39A 22996 __UNKNOWN__ __UNKNOWN__ 1 51767753 51767753 __UNKNOWN__ Nonstop_Mutation SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:51767753T>A ENST00000262676.5 - 11 1423 c.1263A>T c.(1261-1263)tgA>tgT p.*421C TTC39A_ENST00000262675.7_Intron|TTC39A_ENST00000371747.3_Intron|TTC39A_ENST00000413473.2_Intron|TTC39A_ENST00000371750.5_Intron|TTC39A_ENST00000451380.1_Intron|TTC39A_ENST00000447632.2_Intron Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A 0 NA p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 TCTGCCTCCCTCAAGCACCTC 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Whole gene deletion(2) thyroid(1)|central_nervous_system(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001578 stop_lost AB007921 CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1 1p32.3 2013-01-11 2008-06-23 2008-06-23 ENSG00000085831 ENSG00000085831 22996 Tetratricopeptide (TTC) repeat domain containing 18657 protein-coding gene gene with protein product NA chromosome 1 open reading frame 34 C1orf34 NA 9455484, 9461476 Standard XM_005270643 NA Approved KIAA0452, DEME-6 uc010onf.2 Q5SRH9 OTTHUMG00000008193 ENST00000262676.5:c.1263A>T chr1.hg19:g.51767753T>A NA B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24 hg19 0.02 14.40161 CCCxCAA COVERED . . . . . . . . . . T 5.307 0.242042 0.10077 . . ENSG00000085831 ENST00000262676 . . . 3.29 0.864 0.19068 . . . . . . . . . . . 0.09310 N 1 . . . . . . . . . . . . . . 2.6849 0.05105 0.2247:0.1275:0.0:0.6479 . . . . C 421 . . X - 3 0 TTC39A 51540341 0.000000 0.05858 0.001000 0.08648 0.056000 0.15407 -1.552000 0.02176 0.155000 0.19261 0.482000 0.46254 TGA NOVEL TTC39A-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000022432.2 4 9.026306 KEEP 0 0 0 30 912 TT 0.999997 0.999997 0 - 215 60 7303 0 0 720.656362 163 60 5696 496 ENST00000262676.5 0.568783 1 OSBPL9 114883 __UNKNOWN__ __UNKNOWN__ 1 52253798 52253798 __UNKNOWN__ 3'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:52253798C>G ENST00000428468.1 + 0 2550 OSBPL9_ENST00000371710.3_3'UTR|OSBPL9_ENST00000361556.5_3'UTR|OSBPL9_ENST00000371714.1_3'UTR|OSBPL9_ENST00000453295.1_3'UTR|OSBPL9_ENST00000447887.1_3'UTR|OSBPL9_ENST00000462759.1_3'UTR|OSBPL9_ENST00000337809.4_3'UTR|OSBPL9_ENST00000486942.1_3'UTR|OSBPL9_ENST00000435686.2_3'UTR Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 NA NA lipid transport (GO:0006869) cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) lipid binding (GO:0008289) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 AGATACACAACTTGTTTCTTA 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF392445 CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1 1p32.3 2013-01-10 ENSG00000117859 ENSG00000117859 114883 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16386 protein-coding gene gene with protein product 606737 NA Standard NM_148904 NA Approved uc001csu.3 Q96SU4 OTTHUMG00000008234 ENST00000428468.1:c.*337C>G chr1.hg19:g.52253798C>G NA B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2 hg19 CCDS41332.3 0.02 15.538394 CAAxTTG COVERED NOVEL OSBPL9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000022584.4 7 13.841082 KEEP 0 0 0 46 1594 CC 1 1 0 + 74 60 2672 0 0 220.705265 311 60 11198 495 ENST00000428468.1 0.192208 1 ECHDC2 55268 __UNKNOWN__ __UNKNOWN__ 1 53373505 53373505 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:53373505A>C ENST00000371522.4 - 4 458 ECHDC2_ENST00000541281.1_Intron|ECHDC2_ENST00000536120.1_Intron|ECHDC2_ENST00000358358.5_Intron NM_001198961.1 NP_001185890.1 Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 NA NA fatty acid metabolic process (GO:0006631) mitochondrion (GO:0005739) lyase activity (GO:0016829) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 AGGGACCCCCAAACCCCCTCC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF258590 CCDS571.1, CCDS55600.1, CCDS72794.1 1p32.3 2010-04-30 2010-04-30 ENSG00000121310 ENSG00000121310 55268 23408 protein-coding gene gene with protein product NA enoyl Coenzyme A hydratase domain containing 2 NA Standard NM_018281 NM_018281 NA Approved FLJ10948 uc001cup.4 Q86YB7 OTTHUMG00000008927 ENST00000371522.4:c.364+34T>G chr1.hg19:g.53373505A>C NA D3DQ36|Q9NV38 hg19 CCDS55600.1 0.02 1.88622 CCCxAAC COVERED NOVEL ECHDC2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024712.3 1 3.856956 KEEP 0 1 11 17 453 AA 0.999859 0.999848 0 - 16 60 203 0 0 9.125472 91 60 2460 162 ENST00000371522.4 0.149533 0.999989 SGIP1 84251 __UNKNOWN__ __UNKNOWN__ 1 67125899 67125899 __UNKNOWN__ Intron SNP A A G rs72669469 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:67125899A>G ENST00000371037.4 + 8 536 SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 NA NA endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021) AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 agaaagaaagagaaagaaaga 0.393 NA NA A||| 679 0.135583 0.152 0.0893 5008 , , NA 12392 0.125 NA 0.1461 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136561 CCDS30744.1 1p31.3 2008-02-05 ENSG00000118473 ENSG00000118473 84251 25412 protein-coding gene gene with protein product 611540 NA 11230166 Standard NM_032291 NM_032291 NA Approved DKFZp761D221 uc001dcr.3 Q9BQI5 OTTHUMG00000009161 ENST00000371037.4:c.460-297A>G chr1.hg19:g.67125899A>G NA A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2 hg19 CCDS30744.1 0.02 -0.157839 AAGxGAA COVERED NOVEL SGIP1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000025395.4 6 2.407014 KEEP 0 0 0 8 242 AA 0.99257 0.320408 0 + 11 60 347 0 0 34.718115 7 60 230 27 ENST00000371037.4 0.611111 0.322807 NEGR1 257194 __UNKNOWN__ __UNKNOWN__ 1 72739714 72739714 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:72739714A>T ENST00000357731.5 - 1 416 NEGR1_ENST00000434200.1_Intron NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 NA NA feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) ATTTGGCTTTATTTTGCAGTA 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092307 CCDS661.1 1p31.1 2013-01-11 ENSG00000172260 ENSG00000172260 257194 Immunoglobulin superfamily / I-set domain containing 17302 protein-coding gene gene with protein product a kindred of IgLON, neurotractin, IgLON family member 4 613173 NA 10075727 Standard NM_173808 NM_173808 NA Approved KILON, MGC46680, Ntra, IGLON4 uc001dfw.3 Q7Z3B1 OTTHUMG00000009698 ENST00000357731.5:c.176+8287T>A chr1.hg19:g.72739714A>T NA Q5VT21|Q6UY06|Q8N440|Q8NAQ3 hg19 CCDS661.1 0.02 1.836025 TTTxTTT COVERED NOVEL NEGR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026722.4 1 3.267516 KEEP 0 0 0 11 270 AA 0.993072 0.993072 0 - 16 60 246 0 0 11.079796 129 60 3810 202 ENST00000357731.5 0.110345 1 TYW3 127253 __UNKNOWN__ __UNKNOWN__ 1 75213088 75213088 __UNKNOWN__ Intron SNP G G A rs61790736 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:75213088G>A ENST00000370867.3 + 4 443 TYW3_ENST00000457880.2_Intron|TYW3_ENST00000479111.1_Intron|TYW3_ENST00000421739.2_Intron NM_138467.2 NP_612476.1 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) NA NA tRNA processing (GO:0008033) methyltransferase activity (GO:0008168) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1) 15 ttgggaggccgaggcgggcgg 0.522 NA NA -||| 1136 0.226837 0.0756 0.4222 5008 , , NA 14061 0.0079 NA 0.5437 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX647591 CCDS666.1, CCDS53334.1 1p31.1 2008-02-05 2006-05-25 2006-05-25 ENSG00000162623 ENSG00000162623 127253 24757 protein-coding gene gene with protein product 611245 chromosome 1 open reading frame 171 C1orf171 NA 17150819 Standard NM_138467 NM_138467 NA Approved FLJ40918 uc001dgn.3 Q6IPR3 OTTHUMG00000009641 ENST00000370867.3:c.355-1347G>A chr1.hg19:g.75213088G>A NA B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1 hg19 CCDS666.1 0.02 -0.035088 GCCxAGG UNCOVERED NOVEL TYW3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026573.1 2 2.407596 KEEP 5 0 0 8 267 GG 0 0 0 + 2 60 64 0 0 7.353558 0 0 0 19 ENST00000370867.3 1 0.019982 RBMXL1 494115 __UNKNOWN__ __UNKNOWN__ 1 89449399 89449399 __UNKNOWN__ Silent SNP T T C rs77567101 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:89449399T>C ENST00000321792.5 - 2 538 c.111A>G c.(109-111)gtA>gtG p.V37V CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Silent_p.V37V|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron NM_019610.5 NP_062556.2 Q96E39 RMXL1_HUMAN RNA binding motif protein, X-linked-like 1 37 RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NA TTATCAAGAGTACTTCCACTA 0.428 NA NA OREG0013593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 T ,,, 1667,2739 0,1667,536 209 198 202 NA ,,111,111 0.4 1 1 dbSNP_131 202 2526,6074 0,2526,1774 no intron,intron,coding-synonymous,coding-synonymous CCBL2,RBMXL1 NM_001008661.2,NM_001008662.2,NM_001162536.2,NM_019610.5 ,,, 0,4193,2310 CC,CT,TT NA 29.3721,37.8348,32.239 ,,, ,,37/391,37/391 89449399 4193,8813 2203 4300 6503 SO:0001819 synonymous_variant BC012942 CCDS716.1 1p22.2 2013-02-12 2007-01-04 2007-01-04 ENSG00000213516 ENSG00000213516 494115 RNA binding motif (RRM) containing 25073 protein-coding gene gene with protein product kynurenine aminotransferase III NA NA 10441733 Standard NM_019610 NM_019610 NA Approved KAT3 uc001dms.3 Q96E39 OTTHUMG00000010661 ENST00000321792.5:c.111A>G chr1.hg19:g.89449399T>C 1267 hg19 CCDS716.1 0.02 1.96892 GAGxACT COVERED NOVEL RBMXL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029403.3 4 2.40597 KEEP 0 0 0 8 224 TT 0.99257 0.991982 0 - 7 60 252 0 0 18.357579 70 60 2162 91 ENST00000321792.5 0.090909 0.999407 ABCA4 24 __UNKNOWN__ __UNKNOWN__ 1 94497675 94497675 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:94497675C>T ENST00000370225.3 - 27 3949 NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 NA NA phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TTTTTTTTCCCTTACAGCATT 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U88667 CCDS747.1 1p22 2013-01-23 ENSG00000198691 ENSG00000198691 24 ATP binding cassette transporters / subfamily A 34 protein-coding gene gene with protein product Stargardt disease 601691 ATP-binding cassette transporter, retinal-specific STGD1, ABCR, RP19, STGD NA 9490294 Standard NM_000350 NM_000350 NA Approved FFM, ARMD2, CORD3 uc001dqh.3 P78363 OTTHUMG00000010622 ENST00000370225.3:c.3863-76G>A chr1.hg19:g.94497675C>T NA O15112|O60438|O60915|Q0QD48|Q4LE31 hg19 CCDS747.1 0.02 6.680735 TCCxTTA COVERED NOVEL ABCA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029320.1 2 9.029401 KEEP 0 0 0 30 1060 CC 0.999997 0.999997 0 - 97 60 3325 0 0 329.807259 69 60 2539 234 ENST00000370225.3 0.584337 1 LPPR4 0 __UNKNOWN__ __UNKNOWN__ 1 99771571 99771571 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:99771571G>T ENST00000370185.3 + 7 1794 c.1297G>T c.(1297-1299)Gcg>Tcg p.A433S LPPR4_ENST00000457765.1_Missense_Mutation_p.A375S|LPPR4_ENST00000370184.1_Missense_Mutation_p.A275S NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 433 NA axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839) integral component of plasma membrane (GO:0005887) lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CAGAAGAAATGCGAGCATTCA 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 67 68 68 NA NA NA 1 NA NA 99771571 2203 4300 6503 SO:0001583 missense NA NA NA NA NA ENST00000370185.3:c.1297G>T chr1.hg19:g.99771571G>T ENSP00000359204:p.Ala433Ser NA E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0 hg19 CCDS757.1 0.02 5.939153 AATxCGA COVERED . . . . . . . . . . G 7.530 0.658430 0.14645 . . ENSG00000117600 ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184 T;T;T 0.25085 2.39;2.35;1.82 5.5 2.62 0.31277 . 0.862610 0.10590 N 0.656864 T 0.15046 0.0363 L 0.50333 1.59 0.42300 D 0.992175 P;B 0.51537 0.946;0.194 P;B 0.45639 0.488;0.103 T 0.10543 -1.0625 9 . . . -12.3652 10.0938 0.42462 0.2161:0.0:0.7839:0.0 . 375;433 E7EPS1;Q7Z2D5 .;LPPR4_HUMAN S 433;375;433;275 ENSP00000359204:A433S;ENSP00000394913:A375S;ENSP00000359203:A275S . A + 1 0 RP4-788L13.1 99544159 1.000000 0.71417 0.612000 0.29024 0.220000 0.24768 3.217000 0.51184 0.684000 0.31448 0.650000 0.86243 GCG NOVEL LPPR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029670.2 0 3.912274 KEEP 0 0 0 13 449 GG 0.994391 0.994391 0 + 52 60 1776 0 0 156.314965 122 60 4333 230 ENST00000370185.3 0.298851 1 HENMT1 113802 __UNKNOWN__ __UNKNOWN__ 1 109191953 109191953 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:109191953T>G ENST00000370032.5 - 8 1177 HENMT1_ENST00000370031.1_Intron|HENMT1_ENST00000402983.1_Intron|HENMT1_ENST00000493676.1_Intron NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) NA NA gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510) P granule (GO:0043186) metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 GTAAgtgcagtgactcacacc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS787.1 1p13.3 2011-01-28 2011-01-28 2011-01-28 ENSG00000162639 ENSG00000162639 113802 26400 protein-coding gene gene with protein product HEN1 methyltransferase homolog (Arabidopsis) 612178 chromosome 1 open reading frame 59 C1orf59 NA Standard NM_144584 NM_144584 NA Approved FLJ30525, HEN1 uc001dvt.4 Q5T8I9 OTTHUMG00000011123 ENST00000370032.5:c.757-340A>C chr1.hg19:g.109191953T>G NA A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0 hg19 CCDS787.1 0.02 1.985948 CAGxGAC COVERED NOVEL HENMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030592.1 10 11.731242 KEEP 0 0 0 39 1132 TT 1 0.999218 0 - 27 60 918 0 0 82.468014 53 60 1841 141 ENST00000370032.5 0.3375 0.999218 HENMT1 113802 __UNKNOWN__ __UNKNOWN__ 1 109200261 109200261 __UNKNOWN__ Intron SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:109200261T>A ENST00000370032.5 - 3 442 HENMT1_ENST00000370031.1_Intron|HENMT1_ENST00000402983.1_Intron|HENMT1_ENST00000493676.1_Intron NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) NA NA gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510) P granule (GO:0043186) metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 AGAAATTAAATAAGGGGCAAA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS787.1 1p13.3 2011-01-28 2011-01-28 2011-01-28 ENSG00000162639 ENSG00000162639 113802 26400 protein-coding gene gene with protein product HEN1 methyltransferase homolog (Arabidopsis) 612178 chromosome 1 open reading frame 59 C1orf59 NA Standard NM_144584 NM_144584 NA Approved FLJ30525, HEN1 uc001dvt.4 Q5T8I9 OTTHUMG00000011123 ENST00000370032.5:c.22-60A>T chr1.hg19:g.109200261T>A NA A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0 hg19 CCDS787.1 0.02 1.650923 AAAxAAG COVERED NOVEL HENMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030592.1 1 3.315645 KEEP 0 1 10 15 369 TT 0.997832 0.9978 0 - 13 60 217 0 0 11.51065 86 60 2291 134 ENST00000370032.5 0.131313 0.999968 ATXN7L2 127002 __UNKNOWN__ __UNKNOWN__ 1 110029093 110029093 __UNKNOWN__ Intron SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:110029093T>A ENST00000369870.3 + 3 208 NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 NA NA breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CCCTGGGATCTTCAGCCCCAG 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 35 30 31 NA NA NA 1 NA NA 110029093 2203 4300 6503 SO:0001627 intron_variant BC037582 CCDS30794.1 1p13.2 2008-02-05 ENSG00000162650 ENSG00000162650 127002 28713 protein-coding gene gene with protein product NA NA 12477932 Standard NM_153340 NM_153340 NA Approved MGC46534, FLJ00381 uc001dxr.3 Q5T6C5 OTTHUMG00000011027 ENST00000369870.3:c.194-35T>A chr1.hg19:g.110029093T>A NA hg19 CCDS30794.1 0.02 3.838514 ATCxTCA COVERED NOVEL ATXN7L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030331.1 0 3.911239 KEEP 0 0 0 13 392 TT 0.994391 0.99438 0 + 32 60 1074 0 0 94.317538 75 60 2692 141 ENST00000369870.3 0.299065 0.999989 RAP1A 5906 __UNKNOWN__ __UNKNOWN__ 1 112097917 112097917 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:112097917G>A ENST00000356415.1 + 1 292 ADORA3_ENST00000369717.4_Intron P62834 RAP1A_HUMAN RAP1A, member of RAS oncogene family NA NA activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034) endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) gaacccaggaggctgaggttg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014086 CCDS840.1 1p13.3 2014-05-09 ENSG00000116473 ENSG00000116473 5906 9855 protein-coding gene gene with protein product 179520 NA 3143720 Standard NM_002884 XM_006710803 NA Approved KREV-1, SMGP21 uc001ebl.3 P62834 OTTHUMG00000011959 ENST00000356415.1:c.-28+12786G>A chr1.hg19:g.112097917G>A NA P10113 hg19 CCDS840.1 0.02 -0.061413 GGAxGCT UNCOVERED NOVEL RAP1A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033072.1 2 2.708292 KEEP 0 0 0 9 291 GG 0.99254 0.04346 0 + 4 60 150 0 0 14.832308 3 60 108 18 ENST00000356415.1 0.571429 0.043787 DENND2C 163259 __UNKNOWN__ __UNKNOWN__ 1 115144862 115144862 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:115144862T>C ENST00000393276.3 - 9 1829 DENND2C_ENST00000393274.1_Intron|DENND2C_ENST00000481894.1_Intron|DENND2C_ENST00000393277.1_Intron NM_198459.3 NP_940861.3 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C NA NA positive regulation of Rab GTPase activity (GO:0032851) Rab guanyl-nucleotide exchange factor activity (GO:0017112) NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CAATTACTTATGGCATTCTCC 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 39 40 NA NA NA 1 NA NA 115144862 2203 4300 6503 SO:0001627 intron_variant CCDS875.1, CCDS58018.1 1p13.2-p13.1 2012-10-03 ENSG00000175984 ENSG00000175984 163259 DENN/MADD domain containing 24748 protein-coding gene gene with protein product NA NA Standard NM_198459 NM_198459 NA Approved FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1 uc001efd.1 Q68D51 OTTHUMG00000011893 ENST00000393276.3:c.1497-47A>G chr1.hg19:g.115144862T>C NA B1AL26|Q5TCX6|Q6P3R3 hg19 CCDS875.1 0.02 8.672991 TTAxGGC COVERED NOVEL DENND2C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032863.2 2 8.124529 KEEP 0 0 0 27 856 TT 0.999988 0.999988 0 - 137 60 4176 0 0 413.189503 99 60 3440 281 ENST00000393276.3 0.580508 1 IGSF3 3321 __UNKNOWN__ __UNKNOWN__ 1 117149041 117149041 __UNKNOWN__ Intron SNP G G A rs61786586 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:117149041G>A ENST00000318837.6 - 5 1387 IGSF3_ENST00000369486.3_Intron|IGSF3_ENST00000369483.1_Intron O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 NA NA lacrimal gland development (GO:0032808) cell surface (GO:0009986)|integral component of membrane (GO:0016021) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ctcttaggaggaaaagcgcca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF031174 CCDS30813.1, CCDS30814.1 1p13 2013-01-29 ENSG00000143061 ENSG00000143061 3321 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5950 protein-coding gene gene with protein product 603491 NA 9790749 Standard NM_001542 NM_001007237 NA Approved V8, EWI-3, MGC117164 uc031pnr.1 O75054 OTTHUMG00000022751 ENST00000318837.6:c.1282+72C>T chr1.hg19:g.117149041G>A NA A6NJZ6|A6NMC7 hg19 CCDS30814.1 0.02 3.750762 GAGxAAA COVERED NOVEL IGSF3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059041.1 2 2.708585 KEEP 4 0 0 9 301 GG 0.99254 0.99254 0 - 15 27 530 0 0 39.522328 124 60 4298 195 ENST00000318837.6 0.107914 1 NOTCH2 4853 __UNKNOWN__ __UNKNOWN__ 1 120496351 120496351 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:120496351C>T ENST00000256646.2 - 14 2439 NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 NA NA apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGTATAAACGTATGATTGA 0.383 NA NA N, F, Mis marginal zone lymphoma, DLBCL Alagille Syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1p13-p11 4853 Notch homolog 2 L 0 53 55 54 NA NA NA 1 NA NA 120496351 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database ALGS1, ALGS2.Alagille-Watson syndrome AF315356 CCDS908.1 1p13-p11 2013-01-10 2010-06-24 ENSG00000134250 ENSG00000134250 4853 Ankyrin repeat domain containing 7882 protein-coding gene gene with protein product 600275 Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila) NA 7698746 Standard NM_024408 NM_001200001 NA Approved uc001eik.3 Q04721 OTTHUMG00000012177 ENST00000256646.2:c.2220-40G>A chr1.hg19:g.120496351C>T NA Q5T3X7|Q99734|Q9H240 hg19 CCDS908.1 0.02 6.107784 AAAxGTA COVERED NOVEL NOTCH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033679.1 1 4.212761 KEEP 0 0 0 14 439 CC 0.995343 0.995343 0 - 56 60 1945 0 0 171.375951 133 60 4006 219 ENST00000256646.2 0.296296 1 NOTCH2 4853 __UNKNOWN__ __UNKNOWN__ 1 120539543 120539543 __UNKNOWN__ Intron SNP C C A rs2725893 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:120539543C>A ENST00000256646.2 - 4 971 NOTCH2_ENST00000602566.1_Intron NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 NA NA apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCCTAAAAACAGCAATTGAG 0.507 NA NA N, F, Mis marginal zone lymphoma, DLBCL Alagille Syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1p13-p11 4853 Notch homolog 2 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database ALGS1, ALGS2.Alagille-Watson syndrome AF315356 CCDS908.1 1p13-p11 2013-01-10 2010-06-24 ENSG00000134250 ENSG00000134250 4853 Ankyrin repeat domain containing 7882 protein-coding gene gene with protein product 600275 Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila) NA 7698746 Standard NM_024408 NM_001200001 NA Approved uc001eik.3 Q04721 OTTHUMG00000012177 ENST00000256646.2:c.751+76G>T chr1.hg19:g.120539543C>A NA Q5T3X7|Q99734|Q9H240 hg19 CCDS908.1 0.02 3.883494 AAAxAGC COVERED NOVEL NOTCH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033679.1 2 2.407437 KEEP 4 0 0 8 265 CC 0.99257 0.99257 0 - 6 40 200 0 0 12.502795 115 60 4106 159 ENST00000256646.2 0.049587 1 NOTCH2 4853 __UNKNOWN__ __UNKNOWN__ 1 120539544 120539544 __UNKNOWN__ Intron SNP A A T rs3899529 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:120539544A>T ENST00000256646.2 - 4 971 NOTCH2_ENST00000602566.1_Intron NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 NA NA apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTAAAAACAGCAATTGAGC 0.507 NA NA N, F, Mis marginal zone lymphoma, DLBCL Alagille Syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1p13-p11 4853 Notch homolog 2 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database ALGS1, ALGS2.Alagille-Watson syndrome AF315356 CCDS908.1 1p13-p11 2013-01-10 2010-06-24 ENSG00000134250 ENSG00000134250 4853 Ankyrin repeat domain containing 7882 protein-coding gene gene with protein product 600275 Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila) NA 7698746 Standard NM_024408 NM_001200001 NA Approved uc001eik.3 Q04721 OTTHUMG00000012177 ENST00000256646.2:c.751+75T>A chr1.hg19:g.120539544A>T NA Q5T3X7|Q99734|Q9H240 hg19 CCDS908.1 0.02 3.792463 AACxGCA COVERED NOVEL NOTCH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033679.1 2 2.406478 KEEP 5 0 0 8 237 AA 0.99257 0.99257 0 - 6 40 194 0 0 11.926768 114 60 3997 160 ENST00000256646.2 0.05 1 NOTCH2 4853 __UNKNOWN__ __UNKNOWN__ 1 120611808 120611808 __UNKNOWN__ Intron SNP T T C rs2794168 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:120611808T>C ENST00000256646.2 - 1 293 NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 NA NA apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCAAACTCTTGGGAACCCAG 0.751 NA NA N, F, Mis marginal zone lymphoma, DLBCL Alagille Syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1p13-p11 4853 Notch homolog 2 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database ALGS1, ALGS2.Alagille-Watson syndrome AF315356 CCDS908.1 1p13-p11 2013-01-10 2010-06-24 ENSG00000134250 ENSG00000134250 4853 Ankyrin repeat domain containing 7882 protein-coding gene gene with protein product 600275 Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila) NA 7698746 Standard NM_024408 NM_001200001 NA Approved uc001eik.3 Q04721 OTTHUMG00000012177 ENST00000256646.2:c.73+139A>G chr1.hg19:g.120611808T>C NA Q5T3X7|Q99734|Q9H240 hg19 CCDS908.1 0.02 5.586901 TCTxGGG COVERED . . . . . . . . . . t 7.275 0.607864 0.14002 . . ENSG00000134250 ENST00000538680 . . . 2.08 -1.96 0.07525 . . . . . T 0.16300 0.0392 . . . 0.09310 N 0.999996 . . . . . . T 0.35674 -0.9779 5 0.87932 D 0 . 2.8148 0.05453 0.0:0.4053:0.247:0.3478 . . . . R 88 . ENSP00000439516:Q88R Q - 2 0 NOTCH2 120413331 0.000000 0.05858 0.000000 0.03702 0.028000 0.11728 -2.137000 0.01304 -0.654000 0.05394 -0.788000 0.03338 CAA NOVEL NOTCH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033679.1 0 11.563096 KEEP 0 1 24 47 1370 TT 1 1 0 - 11 21 354 0 0 22.740664 167 60 5625 263 ENST00000256646.2 0.061798 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121483121 121483121 __UNKNOWN__ IGR SNP T T G rs146613816 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:121483121T>G NA NA RP11-344P13.1 (160799 upstream) : None (None downstream) NA NA NA gtttcaaacctgaactatcag 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.121483121T>G NA hg19 0.02 1.675367 ACCxGAA COVERED NOVEL 0 4 3.309841 KEEP 6 0 0 11 341 TT 0.99257 0.989319 0 5 40 141 0 0 8.972425 60 60 2121 106 0.076923 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121483309 121483309 __UNKNOWN__ IGR SNP C C G rs28857589 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:121483309C>G NA NA RP11-344P13.1 (160987 upstream) : None (None downstream) NA NA NA aaggaatgttcagctctgtga 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.121483309C>G NA hg19 0.02 6.242986 GTTxAGC COVERED NOVEL 0 29 4.650912 KEEP 25 1 36 28 953 CC 0.999869 0.999869 0 8 60 294 0 0 21.149055 91 60 3352 292 0.080808 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121483810 121483810 __UNKNOWN__ IGR SNP A A G rs151286364 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:121483810A>G NA NA RP11-344P13.1 (161488 upstream) : None (None downstream) NA NA NA ctgctgtatcaaaaggaatct 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.121483810A>G NA hg19 0.02 3.971092 ATCxAAA COVERED NOVEL 0 3 4.813452 KEEP 11 0 0 16 483 AA 0.994391 0.99439 0 5 53 180 0 0 12.078065 82 60 2869 189 0.057471 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121483820 121483820 __UNKNOWN__ IGR SNP T T G rs150405240 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:121483820T>G NA NA RP11-344P13.1 (161498 upstream) : None (None downstream) NA NA NA aaaaggaatcttcaactccgt 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.121483820T>G NA hg19 0.02 3.76638 ATCxTCA COVERED NOVEL 0 6 2.440307 KEEP 12 1 31 19 578 TT 0.999366 0.999366 0 11 60 375 0 0 28.074855 82 60 2831 218 0.11828 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485303 121485303 __UNKNOWN__ IGR SNP G G C rs28972916 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:121485303G>C NA NA RP11-344P13.1 (162981 upstream) : None (None downstream) NA NA NA tcaactcacagagtttaacct 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.121485303G>C NA hg19 0.02 41.450901 ACAxAGT COVERED NOVEL 0 330 141.622364 KEEP 35 30 1055 839 28501 GG 1 1 0 35 60 1252 1 0 86.755141 468 60 16383 1988 0.069583 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485312 121485312 __UNKNOWN__ IGR SNP C C T rs28972939|rs6671305 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:121485312C>T NA NA RP11-344P13.1 (162990 upstream) : None (None downstream) NA NA NA agagtttaacctttcttttca 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.121485312C>T NA hg19 0.02 39.23883 AACxTTT COVERED NOVEL 0 333 18.769319 KEEP 45 66 2091 796 27317 CC 1 1 0 29 60 1009 0 0 65.961103 500 60 17531 1993 0.05482 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485318 121485318 __UNKNOWN__ IGR SNP T T G rs1138166|rs6600659 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:121485318T>G NA NA RP11-344P13.1 (162996 upstream) : None (None downstream) NA NA NA taacctttcttttcatagagc 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.121485318T>G NA hg19 0.02 39.597748 TCTxTTC COVERED NOVEL 0 336 82.161678 KEEP 46 45 1572 822 25518 TT 1 1 0 38 60 1344 0 0 93.780202 474 60 16318 1992 0.074219 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485422 121485422 __UNKNOWN__ IGR SNP G G T rs28971216|rs7414925 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:121485422G>T NA NA RP11-344P13.1 (163100 upstream) : None (None downstream) NA NA NA tattctgctagacagaagAAT 0.234 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.121485422G>T NA hg19 0.02 30.868278 CTAxACA COVERED NOVEL 0 297 55.68867 KEEP 63 7 216 261 8730 GG 1 1 0 18 60 620 0 0 39.684625 337 60 12055 1220 0.050704 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142536715 142536715 __UNKNOWN__ IGR SNP T T C rs11578605 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142536715T>C NA NA None (None upstream) : RP11-417J8.1 (16577 downstream) NA NA NA tagaatggaatggaatggaat 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142536715T>C NA hg19 0.02 -0.280707 GAAxGGA UNCOVERED NOVEL 0 30 4.513332 KEEP 30 0 0 15 459 TT 0 0 0 4 60 133 0 0 15.207558 0 0 0 88 1 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142537256 142537256 __UNKNOWN__ IGR SNP G G A rs112623836 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142537256G>A NA NA None (None upstream) : RP11-417J8.1 (16036 downstream) NA NA NA ctgagattgtgccactgcact 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142537256G>A NA hg19 0.02 -0.263179 TGTxCCA COVERED NOVEL 0 7 3.310463 KEEP 8 0 0 11 367 GG 0.99257 0.688515 0 3 47 100 0 0 7.760484 17 60 613 54 0.15 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142538187 142538187 __UNKNOWN__ IGR SNP G G A rs71525297 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142538187G>A NA NA None (None upstream) : RP11-417J8.1 (15105 downstream) NA NA NA agagtggactggagtggaatg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142538187G>A NA hg19 0.02 -0.280154 ACTxGAG UNCOVERED NOVEL 0 10 2.708687 KEEP 9 0 0 9 303 GG 0 0 0 3 60 96 0 0 8.742177 5 60 149 49 0.375 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142538795 142538795 __UNKNOWN__ IGR SNP T T A rs373917220 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142538795T>A NA NA None (None upstream) : RP11-417J8.1 (14497 downstream) NA NA NA cagagtgaaatcctgttgaaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142538795T>A NA hg19 0.02 1.844788 AAAxCCT COVERED NOVEL 0 17 3.278154 KEEP 6 2 66 34 1049 TT 0.999999 0.990963 0 5 60 171 0 0 14.256013 18 60 638 137 0.217391 0.990964 RP11-417J8.1 0 __UNKNOWN__ __UNKNOWN__ 1 142556277 142556277 __UNKNOWN__ lincRNA SNP C C T rs552867680 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142556277C>T ENST00000445662.1 + 0 204 NA NA NA gccatgttgcccaggctggtc 0.502 NA NA .||| 15 0.00299521 0.0015 0.0058 5008 , , NA 34045 0 NA 0.0089 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000445662.1: chr1.hg19:g.142556277C>T NA hg19 0.02 -0.026319 TGCxCAG UNCOVERED NOVEL RP11-417J8.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000036736.1 6 3.009855 KEEP 9 0 0 10 353 CC 0 0 0 + 2 49 72 0 0 7.324848 1 39 35 22 ENST00000445662.1 0.666667 0 RP11-417J8.2 0 __UNKNOWN__ __UNKNOWN__ 1 142582134 142582134 __UNKNOWN__ lincRNA SNP A A G rs2951563 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142582134A>G ENST00000415979.2 - 0 167 NA NA NA aaatgatggaacaaatagaac 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000415979.2: chr1.hg19:g.142582134A>G NA hg19 0.02 -0.140272 GGAxCAA UNCOVERED NOVEL RP11-417J8.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037256.2 2 2.707959 KEEP 5 0 0 9 282 AA 0 0 0 - 3 40 111 0 0 9.27295 12 48 396 33 ENST00000415979.2 0.2 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142598207 142598207 __UNKNOWN__ IGR SNP G G A rs11249329 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142598207G>A NA NA RP11-417J8.2 (9974 upstream) : RP11-417J8.3 (20915 downstream) NA NA NA gtgaaaccccgtctctactaa 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142598207G>A NA hg19 0.02 -0.254384 CCCxTCT COVERED NOVEL 0 2 2.94319 KEEP 12 1 20 17 578 GG 0.993634 0.664267 0 3 46 97 0 0 6.9453 26 50 894 65 0.103448 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142601350 142601350 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142601350G>C NA NA RP11-417J8.2 (13117 upstream) : RP11-417J8.3 (17772 downstream) NA NA NA gcctcctaaagtgttgggatt 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142601350G>C NA hg19 0.02 -0.350919 AAAxTGT UNCOVERED NOVEL 0 12 5.417433 KEEP 23 0 0 18 619 GG 0 0 0 3 41 113 0 0 8.325363 31 60 1128 80 0.088235 0.877708 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142633240 142633240 __UNKNOWN__ lincRNA SNP G G A rs548095577 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142633240G>A ENST00000610091.1 - 0 6271 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA gattacaggcgtgagccactg 0.532 NA NA .||| 1 0.000199681 0 0 5008 , , NA 37598 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142633240G>A NA hg19 0.02 -0.166674 GGCxTGA COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 4 2.407386 KEEP 0 0 0 8 257 GG 0.99257 0.351317 0 - 4 58 137 0 0 12.47725 7 60 226 33 ENST00000610091.1 0.363636 0.353947 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142634793 142634793 __UNKNOWN__ lincRNA SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142634793C>A ENST00000610091.1 - 0 5741 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA ggtatgtgggcaagtagaagg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142634793C>A NA hg19 0.02 1.80404 GGGxAAG COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 1 2.407678 KEEP 4 0 0 8 269 CC 0.99257 0.99157 0 - 12 60 405 0 0 31.909989 63 60 2237 105 ENST00000610091.1 0.16 0.998993 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142634833 142634833 __UNKNOWN__ lincRNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142634833C>T ENST00000610091.1 - 0 5701 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA ctttattgagcaacagtacag 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142634833C>T NA hg19 0.02 1.590353 GAGxAAC COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 0 2.708793 KEEP 2 0 0 9 315 CC 0.99254 0.992403 0 - 7 49 225 0 0 15.390989 77 54 2838 136 ENST00000610091.1 0.083333 0.999862 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142644815 142644815 __UNKNOWN__ lincRNA SNP C C G rs113015465 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142644815C>G ENST00000610091.1 - 0 3560 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA agccactgcacctggcctctt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142644815C>G NA hg19 0.02 -0.096505 GCAxCTG UNCOVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 6 4.514734 KEEP 8 0 0 15 526 CC 0.99257 0.119541 0 - 2 40 77 0 0 6.389308 9 50 323 37 ENST00000610091.1 0.181818 0.120436 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142697188 142697188 __UNKNOWN__ lincRNA SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142697188G>T ENST00000610091.1 - 0 3506 NA NA NA cttgaacccgggaggtggagg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142697188G>T NA hg19 0.02 -0.166675 CCGxGAG COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 3 3.310831 KEEP 7 0 0 11 388 GG 0.992708 0.351366 0 - 3 53 100 0 0 7.909808 15 48 536 51 ENST00000610091.1 0.166667 0.353947 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142723177 142723177 __UNKNOWN__ lincRNA SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142723177G>A ENST00000610091.1 - 0 184 NA NA NA tggaattacaggcatgtgcca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142723177G>A NA hg19 0.02 -0.061411 ACAxGCA UNCOVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 4 3.009732 KEEP 5 0 0 10 345 GG 0 0 0 - 2 24 72 0 0 6.335522 5 25 175 19 ENST00000610091.1 0.285714 0.043787 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142723188 142723188 __UNKNOWN__ lincRNA SNP C C T rs113019736 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142723188C>T ENST00000610091.1 - 0 184 NA NA NA gcatgtgccaccatgaacagc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142723188C>T NA hg19 0.02 -0.043864 CCAxCAT UNCOVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 4 2.993854 KEEP 5 0 0 10 314 CC 0 0 0 - 2 25 69 0 0 6.392769 3 25 103 17 ENST00000610091.1 0.4 0.024074 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142799560 142799560 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142799560A>T NA NA RP11-417J8.6 (69593 upstream) : RP11-423O2.5 (3663 downstream) NA NA NA TTTTCTCTCCATAGGGAGCTT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142799560A>T NA hg19 0.02 13.185121 TCCxTAG COVERED NOVEL 0 5 2.651216 KEEP 11 2 63 31 927 AA 0.999998 0.999998 0 26 54 942 0 0 67.638164 289 60 9992 456 0.08254 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142799568 142799568 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142799568C>T NA NA RP11-417J8.6 (69601 upstream) : RP11-423O2.5 (3655 downstream) NA NA NA CCATAGGGAGCTTATAGCTTC 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142799568C>T NA hg19 0.02 12.646616 GAGxTTA COVERED NOVEL 0 5 4.683133 KEEP 12 2 58 36 1237 CC 1 1 0 23 60 775 0 0 52.292384 306 60 11145 496 0.069909 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142799627 142799627 __UNKNOWN__ IGR SNP T T C rs77040662 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142799627T>C NA NA RP11-417J8.6 (69660 upstream) : RP11-423O2.5 (3596 downstream) NA NA NA AATGACTGCCTTTCTATTTAG 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142799627T>C NA hg19 0.02 12.89746 GCCxTTC COVERED NOVEL 0 2 9.162446 KEEP 15 1 36 43 1349 TT 1 1 0 23 54 801 0 0 55.024358 302 60 10734 509 0.070769 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142799674 142799674 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142799674G>A NA NA RP11-417J8.6 (69707 upstream) : RP11-423O2.5 (3549 downstream) NA NA NA CAGGGGTCCAGATGCATCCTG 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142799674G>A NA hg19 0.02 7.932782 CCAxATG COVERED NOVEL 0 0 3.64581 KEEP 14 1 31 23 762 GG 0.999892 0.999892 0 11 23 366 0 0 23.10215 200 50 7167 291 0.052133 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142816935 142816935 __UNKNOWN__ IGR SNP C C G rs150003895 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142816935C>G NA NA RP11-423O2.5 (931 upstream) : RP11-423O2.7 (134049 downstream) NA NA NA gagtttgagaccagcctgacc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142816935C>G NA hg19 0.02 -0.30602 AGAxCAG COVERED NOVEL 0 4 4.514403 KEEP 5 0 0 15 505 CC 0.993634 0.795151 0 9 60 330 0 0 29.056822 23 57 733 65 0.28125 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142846326 142846326 __UNKNOWN__ IGR SNP T T A rs61816064 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142846326T>A NA NA RP11-423O2.5 (30322 upstream) : RP11-423O2.7 (104658 downstream) NA NA NA TTCTCAGGGTTTCGGTAGAGA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142846326T>A NA hg19 0.02 2.044097 GGTxTCG UNCOVERED NOVEL 0 0 2.407521 KEEP 25 0 0 8 262 TT 0 0 0 21 40 726 0 0 65.380264 41 47 1440 120 0.33871 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142868624 142868624 __UNKNOWN__ IGR SNP C C T rs549310924 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142868624C>T NA NA RP11-423O2.5 (52620 upstream) : RP11-423O2.7 (82360 downstream) NA NA NA gaacaagaccctgtcttaaaa 0.418 NA NA C||| 1 0.000199681 0 0 5008 , , NA 41948 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142868624C>T NA hg19 0.02 -0.228097 ACCxTGT COVERED NOVEL 0 4 4.815526 KEEP 4 0 0 16 557 CC 0.995343 0.580216 0 3 40 108 0 0 8.426285 19 50 676 55 0.136364 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142896889 142896889 __UNKNOWN__ IGR SNP T T C rs74461342 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142896889T>C NA NA RP11-423O2.5 (80885 upstream) : RP11-423O2.7 (54095 downstream) NA NA NA aaatgtcaaataggtatatga 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142896889T>C NA hg19 0.02 -0.087729 AAAxAGG UNCOVERED NOVEL 0 3 2.407264 KEEP 12 0 0 8 249 TT 0 0 0 3 48 114 0 0 10.343574 6 60 205 32 0.333333 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142897708 142897708 __UNKNOWN__ IGR SNP A A G rs144630472 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142897708A>G NA NA RP11-423O2.5 (81704 upstream) : RP11-423O2.7 (53276 downstream) NA NA NA gtgagtgagcatggggtctgg 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142897708A>G NA hg19 0.02 1.88324 AGCxTGG COVERED NOVEL 0 0 2.407264 KEEP 2 0 0 8 248 AA 0.99257 0.988831 0 4 49 126 0 0 8.256572 52 50 1776 98 0.071429 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142897727 142897727 __UNKNOWN__ IGR SNP C C T rs143752901 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142897727C>T NA NA RP11-423O2.5 (81723 upstream) : RP11-423O2.7 (53257 downstream) NA NA NA ggccactgtgcagtcagattt 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142897727C>T NA hg19 0.02 1.783254 GTGxAGT COVERED NOVEL 0 0 2.407808 KEEP 2 0 0 8 280 CC 0.99257 0.988831 0 4 49 136 0 0 9.35214 49 50 1798 92 0.075472 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142911136 142911136 __UNKNOWN__ IGR SNP G G A rs139912514|rs4108386 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142911136G>A NA NA RP11-423O2.5 (95132 upstream) : RP11-423O2.7 (39848 downstream) NA NA NA tgagattacaggcttgtgcca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142911136G>A NA hg19 0.02 -0.280738 ACAxGCT COVERED NOVEL 0 10 2.393645 KEEP 4 2 42 23 777 GG 0.999892 0.739592 0 4 49 138 0 0 10.722637 24 50 886 73 0.142857 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142917475 142917475 __UNKNOWN__ IGR SNP T T C rs144111502 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142917475T>C NA NA RP11-423O2.5 (101471 upstream) : RP11-423O2.7 (33509 downstream) NA NA NA agagagaaagtgggaccagga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.142917475T>C NA hg19 0.02 1.889591 AAGxGGG UNCOVERED NOVEL 0 1 5.410995 KEEP 87 0 0 18 483 TT 0 0 0 4 40 137 0 0 9.006162 64 40 2140 204 0.058824 0.999881 RP11-423O2.7 0 __UNKNOWN__ __UNKNOWN__ 1 142953689 142953689 __UNKNOWN__ lincRNA SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142953689G>A ENST00000424640.2 - 0 203 NA NA NA aggccgaggcgggaggatcat 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424640.2: chr1.hg19:g.142953689G>A NA hg19 0.02 -0.263166 GGCxGGA COVERED NOVEL RP11-423O2.7-001 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000193207.2 17 6.253357 KEEP 1 1 29 31 1030 GG 0.999997 0.693667 0 - 4 52 132 0 0 10.122726 24 60 819 86 ENST00000424640.2 0.142857 0.693668 RP11-423O2.7 0 __UNKNOWN__ __UNKNOWN__ 1 142953693 142953693 __UNKNOWN__ lincRNA SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:142953693G>A ENST00000424640.2 - 0 203 NA NA NA cgaggcgggaggatcatttga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424640.2: chr1.hg19:g.142953693G>A NA hg19 0.02 -0.263077 GGAxGAT COVERED NOVEL RP11-423O2.7-001 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000193207.2 17 9.629668 KEEP 1 0 0 32 1101 GG 0.999997 0.693667 0 - 3 49 114 0 0 8.69198 25 60 835 85 ENST00000424640.2 0.107143 0.693668 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143139396 143139396 __UNKNOWN__ lincRNA SNP C C T rs146218282 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143139396C>T ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA ccaaccaatcctcacttgagc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143139396C>T NA hg19 0.02 -0.131598 ATCxTCA UNCOVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 3 2.407374 KEEP 5 0 0 8 266 CC 0 0 0 - 3 60 111 0 0 9.600814 9 40 340 34 ENST00000412204.2 0.25 0.260965 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143139406 143139406 __UNKNOWN__ lincRNA SNP C C A rs368377379 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143139406C>A ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA ctcacttgagccccctgagta 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143139406C>A NA hg19 0.02 -0.131591 GAGxCCC UNCOVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 4 2.407299 KEEP 5 0 0 8 267 CC 0 0 0 - 3 60 98 0 0 8.432188 8 40 282 33 ENST00000412204.2 0.272727 0.229173 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143189088 143189088 __UNKNOWN__ lincRNA SNP C C A rs557828104 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143189088C>A ENST00000412204.2 - 0 2503 RP11-782C8.3_ENST00000425124.1_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA CTTCGATGACCTTTACTAACC 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143189088C>A NA hg19 0.02 1.681268 GACxTTT COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 1 3.310574 KEEP 14 0 0 11 371 CC 0.99254 0.992422 0 - 8 23 271 0 0 19.197895 82 60 2846 126 ENST00000412204.2 0.088889 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143283215 143283215 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143283215A>T NA NA RP11-782C8.1 (49798 upstream) : RP11-435B5.3 (64754 downstream) NA NA NA CGCGGAGCGGATCAGCGGCCG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143283215A>T NA hg19 0.02 3.991863 CGGxTCA COVERED NOVEL 0 2 2.843302 KEEP 62 1 33 21 659 AA 0.995343 0.995343 0 19 40 610 0 0 46.328062 115 44 3761 282 0.141791 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143283246 143283246 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143283246G>A NA NA RP11-782C8.1 (49829 upstream) : RP11-435B5.3 (64723 downstream) NA NA NA CGGACTCTGCGTGGACTTGGA 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143283246G>A NA hg19 0.02 5.793642 TGCxTGG COVERED NOVEL 0 4 8.42547 KEEP 70 0 0 28 903 GG 0.997832 0.997832 0 7 40 246 1 0 15.332236 160 44 5027 338 0.041916 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143283286 143283286 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143283286A>G NA NA RP11-782C8.1 (49869 upstream) : RP11-435B5.3 (64683 downstream) NA NA NA TTGGAAGCGGATTCAGAGGAC 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143283286A>G NA hg19 0.02 5.939366 CGGxTTC COVERED NOVEL 0 8 9.92838 KEEP 41 0 0 33 988 AA 0.999892 0.999892 0 8 60 279 0 0 17.42416 177 60 5910 346 0.043243 1 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143441812 143441812 __UNKNOWN__ lincRNA SNP C C T rs7416438 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143441812C>T ENST00000423249.1 - 0 59 NA NA NA cattctcctgcctcagcatcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143441812C>T NA hg19 0.02 -0.210555 CTGxCTC COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 3 5.115369 KEEP 6 0 0 17 575 CC 0.994391 0.519232 0 - 4 39 142 0 0 12.080571 13 57 465 60 ENST00000423249.1 0.235294 0.522161 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143451450 143451450 __UNKNOWN__ lincRNA SNP A A T rs112189225 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143451450A>T ENST00000423249.1 - 0 59 NA NA NA agcataagccaccatgcccag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143451450A>T NA hg19 0.02 -0.377042 GCCxCCA COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 5 3.909983 KEEP 6 0 0 13 363 AA 0.993072 0.902771 0 - 3 60 104 0 0 7.240651 36 60 1147 72 ENST00000423249.1 0.076923 0.909069 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143451458 143451458 __UNKNOWN__ lincRNA SNP C C T rs113087719 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143451458C>T ENST00000423249.1 - 0 59 NA NA NA ccaccatgcccagcctataaa 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143451458C>T NA hg19 0.02 -0.403553 GCCxAGC COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 5 3.611649 KEEP 8 0 0 12 414 CC 0.99254 0.927521 0 - 3 60 96 0 0 6.342845 39 60 1426 72 ENST00000423249.1 0.071429 0.934492 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143460906 143460906 __UNKNOWN__ lincRNA SNP A A G rs369091362 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143460906A>G ENST00000423249.1 - 0 59 NA NA NA gtgaaaccccacctctactaa 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143460906A>G NA hg19 0.02 -0.087666 CCCxCCT UNCOVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 2 2.404788 KEEP 9 0 0 8 224 AA 0 0 0 - 3 25 95 0 0 8.279065 7 40 218 22 ENST00000423249.1 0.3 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143473444 143473444 __UNKNOWN__ IGR SNP T T A rs144095775 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143473444T>A NA NA RP11-435B5.4 (8006 upstream) : RP11-435B5.6 (24899 downstream) NA NA NA caaataattttaaaacctacc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143473444T>A NA hg19 0.02 -0.210534 TTTxAAA UNCOVERED NOVEL 0 3 3.911684 KEEP 35 0 0 13 405 TT 0 0 0 5 27 176 0 0 14.756226 18 40 597 73 0.217391 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143485816 143485816 __UNKNOWN__ IGR SNP C C G rs201527375 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143485816C>G NA NA RP11-435B5.4 (20378 upstream) : RP11-435B5.6 (12527 downstream) NA NA NA tatcccagcactttgagaggc 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143485816C>G NA hg19 0.02 -0.210542 GCAxTTT UNCOVERED NOVEL 0 7 4.514381 KEEP 28 0 0 15 520 CC 0 0 0 6 24 199 0 0 17.029583 17 27 618 66 0.26087 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143485829 143485829 __UNKNOWN__ IGR SNP A A C rs370757797 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143485829A>C NA NA RP11-435B5.4 (20391 upstream) : RP11-435B5.6 (12514 downstream) NA NA NA tgagaggctgaggcaagagga 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143485829A>C NA hg19 0.02 -0.228096 CTGxGGC UNCOVERED NOVEL 0 8 6.016638 KEEP 31 0 0 20 614 AA 0 0 0 3 22 111 0 0 8.548054 22 27 769 77 0.12 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143485938 143485938 __UNKNOWN__ IGR SNP G G A rs4096050 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143485938G>A NA NA RP11-435B5.4 (20500 upstream) : RP11-435B5.6 (12405 downstream) NA NA NA ggtggtgcatgcctattgtcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143485938G>A NA hg19 0.02 1.67566 CATxCCT COVERED NOVEL 0 13 7.356441 KEEP 16 1 30 35 1191 GG 0.999997 0.996721 0 4 40 134 0 0 9.369492 43 49 1575 128 0.085106 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143485945 143485945 __UNKNOWN__ IGR SNP G G A rs1712090 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143485945G>A NA NA RP11-435B5.4 (20507 upstream) : RP11-435B5.6 (12398 downstream) NA NA NA catgcctattgtcccagctac 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143485945G>A NA hg19 0.02 1.918783 ATTxTCC COVERED NOVEL 0 11 6.752513 KEEP 12 1 30 33 1120 GG 0.999997 0.994419 0 4 40 140 0 0 10.09257 40 49 1413 120 0.090909 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143494064 143494064 __UNKNOWN__ IGR SNP G G A rs9440748 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143494064G>A NA NA RP11-435B5.4 (28626 upstream) : RP11-435B5.6 (4279 downstream) NA NA NA agagaaagtgggaccaggaga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143494064G>A NA hg19 0.02 1.725369 GTGxGAC COVERED NOVEL 0 0 3.008979 KEEP 18 0 0 10 325 GG 0.99254 0.992268 0 4 47 141 0 0 9.09323 77 50 2637 127 0.049383 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143494143 143494143 __UNKNOWN__ IGR SNP C C A rs9440749 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143494143C>A NA NA RP11-435B5.4 (28705 upstream) : RP11-435B5.6 (4200 downstream) NA NA NA ggtgctcaaacaaacaggtgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.143494143C>A NA hg19 0.02 3.813057 AAAxAAA COVERED NOVEL 0 0 6.019631 KEEP 7 0 0 20 706 CC 0.99986 0.99986 0 8 60 284 0 1 19.035048 127 60 4687 222 0.059259 1 SRGAP2B 647135 __UNKNOWN__ __UNKNOWN__ 1 143984543 143984543 __UNKNOWN__ RNA SNP C C T rs199490534 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:143984543C>T ENST00000467933.1 + 0 915 P0DMP2 SRG2B_HUMAN SLIT-ROBO Rho GTPase activating protein 2B NA NA nervous system development (GO:0007399) NA cgcttgaacccgggaggcgta 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA CCDS72854.1 1q21.1 2014-07-10 2013-02-13 2012-05-08 ENSG00000196369 ENSG00000196369 647135 35237 protein-coding gene gene with protein product 614703 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2, SLIT-ROBO Rho GTPase activating protein 2B (pseudogene) SRGAP2P2 NA 22559943, 22559944 Standard NM_001271870 NM_001271870 NA Approved uc010oxm.1 P0DMP2 OTTHUMG00000041442 ENST00000467933.1: chr1.hg19:g.143984543C>T NA hg19 0.02 -0.112682 ACCxGGG UNCOVERED NOVEL SRGAP2B-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352915.1 2 3.009542 KEEP 0 0 0 10 339 CC 0.992708 0.161282 0 + 3 27 111 0 0 9.501322 10 50 312 27 ENST00000467933.1 0.230769 0.162467 SRGAP2B 647135 __UNKNOWN__ __UNKNOWN__ 1 144037642 144037642 __UNKNOWN__ RNA SNP G G T rs1754474 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:144037642G>T ENST00000467933.1 + 0 1108 P0DMP2 SRG2B_HUMAN SLIT-ROBO Rho GTPase activating protein 2B NA NA nervous system development (GO:0007399) NA ctgggcaacagagcaagaccc 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA CCDS72854.1 1q21.1 2014-07-10 2013-02-13 2012-05-08 ENSG00000196369 ENSG00000196369 647135 35237 protein-coding gene gene with protein product 614703 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2, SLIT-ROBO Rho GTPase activating protein 2B (pseudogene) SRGAP2P2 NA 22559943, 22559944 Standard NM_001271870 NM_001271870 NA Approved uc010oxm.1 P0DMP2 OTTHUMG00000041442 ENST00000467933.1: chr1.hg19:g.144037642G>T NA hg19 0.02 -0.166687 ACAxAGC UNCOVERED NOVEL SRGAP2B-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352915.1 5 2.407876 KEEP 5 0 0 8 282 GG 0 0 0 + 6 40 201 0 0 17.816398 13 50 481 35 ENST00000467933.1 0.315789 0.353947 SRGAP2B 647135 __UNKNOWN__ __UNKNOWN__ 1 144044135 144044135 __UNKNOWN__ RNA SNP A A G rs2987939 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:144044135A>G ENST00000467933.1 + 0 1108 P0DMP2 SRG2B_HUMAN SLIT-ROBO Rho GTPase activating protein 2B NA NA nervous system development (GO:0007399) NA TCTCTGGTGCAGGCGGCGCGG 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA CCDS72854.1 1q21.1 2014-07-10 2013-02-13 2012-05-08 ENSG00000196369 ENSG00000196369 647135 35237 protein-coding gene gene with protein product 614703 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2, SLIT-ROBO Rho GTPase activating protein 2B (pseudogene) SRGAP2P2 NA 22559943, 22559944 Standard NM_001271870 NM_001271870 NA Approved uc010oxm.1 P0DMP2 OTTHUMG00000041442 ENST00000467933.1: chr1.hg19:g.144044135A>G NA hg19 0.02 1.812765 TGCxGGC COVERED NOVEL SRGAP2B-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352915.1 0 2.274192 KEEP 1 2 61 29 878 AA 0.999997 0.998865 0 + 6 27 207 0 0 14.449826 70 60 2402 135 ENST00000467933.1 0.078947 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144527260 144527260 __UNKNOWN__ IGR SNP C C T rs552397 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:144527260C>T NA NA RP11-640M9.1 (5290 upstream) : RNU1-59P (6777 downstream) NA NA NA gggcctcactctgtcacccag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.144527260C>T NA hg19 0.02 -0.245646 ACTxTGT UNCOVERED NOVEL 0 2 2.40786 KEEP 1 0 0 8 281 CC 0 0 0 7 60 245 0 0 21.001978 21 60 761 46 0.25 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144530236 144530236 __UNKNOWN__ IGR SNP G G A rs515692 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:144530236G>A NA NA RP11-640M9.1 (8266 upstream) : RNU1-59P (3801 downstream) NA NA NA aggagttcaagcctgcagcga 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.144530236G>A NA hg19 0.02 -0.149137 CAAxCCT COVERED NOVEL 0 6 3.912631 KEEP 0 0 0 13 455 GG 0.994391 0.290363 0 3 60 97 0 0 8.200826 9 60 337 38 0.25 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144549155 144549155 __UNKNOWN__ IGR SNP C C T rs61801201 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:144549155C>T NA NA RNU1-59P (14956 upstream) : RP11-640M9.2 (44889 downstream) NA NA NA atcgtgaggccaagagattgt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.144549155C>T NA hg19 0.02 -0.280732 GGCxAAG COVERED NOVEL 0 2 2.708819 KEEP 0 0 0 9 316 CC 0.99254 0.734154 0 8 60 274 0 0 23.402304 24 60 874 51 0.25 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144591025 144591025 __UNKNOWN__ IGR SNP C C A rs6666741 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:144591025C>A NA NA RNU1-59P (56826 upstream) : RP11-640M9.2 (3019 downstream) NA NA NA gaggtcaaggcgggcggatca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.144591025C>A NA hg19 0.02 -0.078957 AGGxGGG UNCOVERED NOVEL 0 2 3.009176 KEEP 11 0 0 10 324 CC 0 0 0 3 40 109 0 0 10.032833 5 60 180 35 0.375 0.077336 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144986827 144986827 __UNKNOWN__ Intron SNP C C T rs1778594 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:144986827C>T ENST00000530740.1 - 4 591 PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369347.4_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) gtagctggtaccacagccaca 0.493 NA NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.552+7763G>A chr1.hg19:g.144986827C>T NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.148393 GTAxCAC COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 11 6.319098 KEEP 0 0 0 21 694 CC 0.999869 0.291963 0 - 3 60 108 0 0 8.799004 14 60 445 47 ENST00000530740.1 0.176471 0.292001 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145007519 145007519 __UNKNOWN__ Intron SNP G G A rs10752803 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145007519G>A ENST00000530740.1 - 3 480 PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) tggcaatctcggctcactgca 0.473 NA NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.441+8340C>T chr1.hg19:g.145007519G>A NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.140235 CTCxGCT COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 4 3.611397 KEEP 0 0 0 12 397 GG 0.993634 0.259304 0 - 3 60 107 0 0 8.779883 13 60 424 36 ENST00000530740.1 0.1875 0.260965 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145007525 145007525 __UNKNOWN__ Intron SNP C C G rs1778724 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145007525C>G ENST00000530740.1 - 3 480 PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) tctcggctcactgcaacctct 0.478 NA NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.441+8334G>C chr1.hg19:g.145007525C>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.131582 TCAxTGC COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 5 3.912378 KEEP 0 0 0 13 445 CC 0.994391 0.227888 0 - 3 60 99 0 0 8.07258 12 60 451 39 ENST00000530740.1 0.2 0.229173 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145021064 145021064 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145021064A>G ENST00000530740.1 - 2 328 PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000478649.2_Intron|PDE4DIP_ENST00000493130.2_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) aaatgaataaacaaaagaaaC 0.448 NA NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 121 109 113 NA NA NA 1 NA NA 145021064 2203 4300 6503 SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.289+47T>C chr1.hg19:g.145021064A>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 26.423086 TAAxCAA COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 11 32.793227 KEEP 0 0 0 109 3346 AA 1 1 0 - 37 60 1345 0 0 90.882627 605 60 20798 850 ENST00000530740.1 0.057632 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145056245 145056245 __UNKNOWN__ Intron SNP G G C rs9424659 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145056245G>C ENST00000530740.1 - 1 272 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) actagttccagctactctgga 0.483 NA NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.233+19384C>G chr1.hg19:g.145056245G>C NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.201214 CCAxCTA COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 2 3.009783 KEEP 0 0 0 10 351 GG 0.992708 0.486967 0 - 7 60 223 0 0 19.485366 16 60 567 39 ENST00000530740.1 0.304348 0.490544 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145069721 145069721 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145069721A>G ENST00000530740.1 - 1 272 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AAAGAGGCCAACAGAAGAAAG 0.393 NA NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.233+5908T>C chr1.hg19:g.145069721A>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 2.191214 CCAxCAG COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 0 3.306487 KEEP 0 0 0 11 330 AA 0.993072 0.988789 0 - 5 60 190 0 0 13.630449 63 60 2156 101 ENST00000530740.1 0.073529 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145091394 145091394 __UNKNOWN__ IGR SNP C C T rs2794072 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145091394C>T NA NA PDE4DIP (15208 upstream) : SEC22B (4825 downstream) NA NA NA ggagccagaccgcacaatcta 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.145091394C>T NA hg19 0.02 -0.368345 GACxGCA COVERED NOVEL 0 1 5.718525 KEEP 0 0 0 19 654 CC 0.99986 0.899188 0 4 60 141 0 0 10.274057 38 60 1274 81 0.095238 0.899314 SEC22B 9554 __UNKNOWN__ __UNKNOWN__ 1 145109342 145109342 __UNKNOWN__ RNA SNP G G A rs10910754 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145109342G>A ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NA TCTAATAATGGGAAGATGTTT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF047442 1q21.1 2012-04-20 2010-03-12 2006-04-25 ENSG00000223380 9554 10700 protein-coding gene gene with protein product 604029 SEC22, vesicle trafficking protein (S. cerevisiae)-like 1, SEC22 vesicle trafficking protein-like 1 (S. cerevisiae), SEC22 vesicle trafficking protein homolog B (S. cerevisiae) SEC22L1 NA 9094723, 16354670 Standard NM_004892 NM_004892 NA Approved sec22b, ERS-24 uc031poa.1 O75396 OTTHUMG00000013745 ENST00000453618.1: chr1.hg19:g.145109342G>A NA A8K1G0 hg19 0.02 1.643129 ATGxGAA COVERED NOVEL SEC22B-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000038523.5 5 3.310481 KEEP 0 0 0 11 364 GG 0.993072 0.992697 0 + 18 60 574 0 0 47.038693 66 60 2213 107 ENST00000453618.1 0.214286 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145139933 145139933 __UNKNOWN__ IGR SNP A A G rs184807077 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145139933A>G NA NA SEC22B (23011 upstream) : RNU6-1071P (9806 downstream) NA NA NA ACTGAGCAGCAGCACCACGGC 0.552 NA NA -||| 70 0.0139776 8e-04 0.0893 5008 , , NA 27333 0 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.145139933A>G NA hg19 0.02 -0.3683 AGCxGCA COVERED NOVEL 0 0 4.446176 KEEP 1 1 35 27 812 AA 0.999988 0.899303 0 8 60 278 0 0 22.73834 34 60 1184 89 0.190476 0.899314 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145209300 145209300 __UNKNOWN__ 5'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145209300C>T ENST00000468030.1 + 0 156 NOTCH2NL_ENST00000344859.3_5'UTR|NOTCH2NL_ENST00000362074.6_5'UTR NA NA NA CTATCGGGACCCCCTCCCCAT 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA NA ENST00000468030.1:c.-181C>T chr1.hg19:g.145209300C>T NA hg19 0.02 5.999902 GACxCCC COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 22 11.072342 KEEP 18 2 63 59 1949 CC 1 1 0 + 12 27 430 0 0 29.563236 169 60 5666 349 ENST00000468030.1 0.066298 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145255487 145255487 __UNKNOWN__ Intron SNP A A G rs2746789 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145255487A>G ENST00000468030.1 + 2 374 NOTCH2NL_ENST00000344859.3_Intron|NOTCH2NL_ENST00000369340.3_Intron|NOTCH2NL_ENST00000362074.6_Intron NA NA NA ccgccaccacacccggctaat 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.38+6593A>G chr1.hg19:g.145255487A>G NA hg19 0.02 -0.043863 CACxCCC UNCOVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 2 2.406794 KEEP 2 0 0 8 237 AA 0.99257 0.023895 0 + 2 40 67 0 0 6.449948 2 50 68 16 ENST00000468030.1 0.5 0.024074 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145277651 145277651 __UNKNOWN__ Intron SNP A A G rs3124619 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145277651A>G ENST00000468030.1 + 4 634 NOTCH2NL_ENST00000344859.3_Intron|NOTCH2NL_ENST00000369340.3_Intron|NOTCH2NL_ENST00000362074.6_Intron NA NA NA cacttctttcatggtggtggc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.299-3718A>G chr1.hg19:g.145277651A>G NA hg19 0.02 -0.23634 TTCxTGG COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 1 2.7081 KEEP 0 0 0 9 277 AA 0.99254 0.607839 0 + 6 47 208 0 0 17.459255 21 60 683 51 ENST00000468030.1 0.222222 0.612407 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145289495 145289495 __UNKNOWN__ Intron SNP T T C rs6424350 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145289495T>C ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000344859.3_Intron NA NA NA aaataaaaaattagccagaaa 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.635-3619T>C chr1.hg19:g.145289495T>C NA hg19 0.02 -0.228091 AAAxTAG COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 10 5.416237 KEEP 3 0 0 18 571 TT 0.99649 0.580884 0 + 5 47 188 0 0 15.658244 21 60 721 56 ENST00000468030.1 0.192308 0.58293 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290401 145290401 __UNKNOWN__ Intron SNP T T G rs77093221 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145290401T>G ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000344859.3_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA GCTTTGAGTATAAATTAAGTT 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 214 221 219 NA NA NA 1 NA NA 145290401 876 1991 2867 SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.635-2713T>G chr1.hg19:g.145290401T>G NA hg19 0.02 38.247652 GTAxAAA COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 3 5.872028 KEEP 5 5 170 79 2136 TT 1 1 0 + 47 46 1613 1 0 106.438739 742 60 24962 993 ENST00000468030.1 0.059569 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290409 145290409 __UNKNOWN__ Intron SNP G G A rs77693292 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145290409G>A ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000344859.3_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA TATAAATTAAGTTTACCTCTT 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 253 258 256 NA NA NA 1 NA NA 145290409 876 1991 2867 SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.635-2705G>A chr1.hg19:g.145290409G>A NA hg19 0.02 38.408684 TAAxTTT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 3 12.148991 KEEP 4 7 200 111 3590 GG 1 1 0 + 52 49 1730 0 0 111.910042 838 60 30154 1118 ENST00000468030.1 0.058427 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290583 145290583 __UNKNOWN__ Intron SNP G G C rs75464601 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145290583G>C ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000344859.3_Intron|NOTCH2NL_ENST00000479995.2_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA GGTTCTTTCAGTTTCAGGACA 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.635-2531G>C chr1.hg19:g.145290583G>C NA hg19 0.02 41.320991 TCAxTTT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 3 77.580129 KEEP 10 18 592 465 16299 GG 1 1 0 + 36 60 1353 0 0 87.366727 836 60 30314 1661 ENST00000468030.1 0.041284 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290723 145290723 __UNKNOWN__ Intron SNP G G A rs55865362 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145290723G>A ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000344859.3_Intron|NOTCH2NL_ENST00000479995.2_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA ACTCTACAGTGTGGGTTGCCT 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.635-2391G>A chr1.hg19:g.145290723G>A NA hg19 0.02 17.69852 AGTxTGG COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 4 6.619788 KEEP 3 0 0 22 711 GG 0.999879 0.999879 0 + 54 60 1849 1 0 138.768188 400 60 14095 500 ENST00000468030.1 0.118943 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290756 145290756 __UNKNOWN__ Intron SNP G G A rs12064726 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145290756G>A ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000344859.3_Intron|NOTCH2NL_ENST00000479995.2_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA TGTGTCTGACGTCCTGATCCC 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.635-2358G>A chr1.hg19:g.145290756G>A NA hg19 0.02 7.559928 GACxTCC COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 3 2.407102 KEEP 5 0 0 8 264 GG 0.99257 0.99257 0 + 23 49 786 0 0 56.991766 210 60 7227 263 ENST00000468030.1 0.098712 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145298186 145298186 __UNKNOWN__ 3'UTR SNP C C G rs28507779 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145298186C>G ENST00000468030.1 + 0 1758 NBPF10_ENST00000342960.5_Missense_Mutation_p.P200A|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA GAGCAAAGTCCCTGAGGACTC 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA NA ENST00000468030.1:c.*705C>G chr1.hg19:g.145298186C>G NA hg19 0.02 -0.394569 GTCxCTG UNCOVERED . . . . . . . . . . . 10.35 1.324612 0.24080 . . ENSG00000163386 ENST00000369339;ENST00000448873;ENST00000342960 T 0.09817 2.94 1.18 1.18 0.20946 . . . . . T 0.04182 0.0116 M 0.79475 2.455 0.09310 N 1 . . . . . . T 0.45702 -0.9243 7 0.02654 T 1 . 5.8896 0.18899 0.0:1.0:0.0:0.0 rs28507779 . . . A 200;125;200 ENSP00000345684:P200A ENSP00000345684:P200A P + 1 0 NBPF10 144009543 0.000000 0.05858 0.001000 0.08648 0.040000 0.13550 0.283000 0.18846 0.982000 0.38575 0.289000 0.19496 CCT NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 0 3.310626 KEEP 39 0 0 11 375 CC 0 0 0 + 10 25 300 0 0 24.423038 35 40 1174 99 ENST00000468030.1 0.222222 0.92664 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145304529 145304529 __UNKNOWN__ 3'UTR SNP T T C rs57379664 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145304529T>C ENST00000468030.1 + 0 2622 NBPF10_ENST00000342960.5_Missense_Mutation_p.S488P|NBPF10_ENST00000369338.1_Missense_Mutation_p.S217P|NBPF10_ENST00000369339.3_Missense_Mutation_p.S217P NA NA p.S488P(2)|p.S217P(2) NA TAGCCATGGCTCTTATGACTC 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) kidney(4) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA NA ENST00000468030.1:c.*1569T>C chr1.hg19:g.145304529T>C NA hg19 0.02 -0.350903 GGCxCTT COVERED . . . . . . . . . . . 0 -2.687902 0.00100 . . ENSG00000163386 ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960 T;T 0.05580 3.42;3.42 0.811 -1.62 0.08372 . . . . . T 0.00496 0.0016 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.43556 -0.9384 8 0.02654 T 1 . 2.7867 0.05376 0.0:0.3083:0.2528:0.4389 . 217 A8MQ30 . P 413;217;217;488 ENSP00000358344:S217P;ENSP00000345684:S488P ENSP00000345684:S488P S + 1 0 NBPF10 144015886 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -2.482000 0.00981 -1.752000 0.01325 -0.883000 0.02948 TCT NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 0 3.309558 KEEP 10 0 0 11 337 TT 0.992708 0.871307 0 + 7 22 253 0 0 20.58505 33 50 1164 68 ENST00000468030.1 0.175 0.877708 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145304656 145304656 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145304656G>A ENST00000468030.1 + 15 2745 NBPF10_ENST00000342960.5_Intron|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA ATTCCAGGTAGCCTCTGTTTT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.714+4G>A chr1.hg19:g.145304656G>A NA hg19 0.02 2.027512 GTAxCCT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 0 3.009766 KEEP 12 0 0 10 351 GG 0.99257 0.985548 0 + 7 46 246 0 0 18.352945 57 47 2055 104 ENST00000468030.1 0.109375 0.992926 NBPF10 100132406 __UNKNOWN__ __UNKNOWN__ 1 145323656 145323656 __UNKNOWN__ Intron SNP A A T rs75252120 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:145323656A>T ENST00000369339.3 + 10 1293 NBPF10_ENST00000342960.5_Missense_Mutation_p.I1165F|NBPF10_ENST00000369338.1_Intron Q6P3W6 NBPFA_HUMAN neuroblastoma breakpoint family, member 10 NA NA cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) p.I1165F(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TATTGCAGGAATTAAAAAGGA 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3 Substitution - Missense(3) endometrium(2)|kidney(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC021111 1q21.1 2013-01-17 ENSG00000163386 ENSG00000271425 100132406 neuroblastoma breakpoint family 31992 protein-coding gene gene with protein product 614000 NA 16079250 Standard NM_001039703 NM_001039703 NA Approved AG1 Q6P3W6 OTTHUMG00000013757 ENST00000369339.3:c.1040+12502A>T chr1.hg19:g.145323656A>T NA Q5RHC0|Q9NWN6 hg19 0.02 6.123441 GGAxTTA COVERED . . . . . . . . . . . 7.524 0.657305 0.14580 . . ENSG00000163386 ENST00000342960 T 0.03441 3.93 . . . . . . . . T 0.02342 0.0072 M 0.67953 2.075 0.09310 N 1 . . . . . . T 0.44065 -0.9352 5 0.28530 T 0.3 . . . . . . . . F 1165 ENSP00000345684:I1165F ENSP00000345684:I1165F I + 1 0 NBPF10 144035013 0.353000 0.24904 0.005000 0.12908 0.123000 0.20343 1.122000 0.31295 0.386000 0.24997 0.128000 0.15822 ATT NOVEL NBPF10-001 KNOWN not_best_in_genome_evidence|basic protein_coding NA protein_coding OTTHUMT00000038550.3 1 3.376312 KEEP 13 2 62 33 1003 AA 0.999999 0.999999 0 + 27 60 938 1 0 73.160124 160 60 5582 282 ENST00000369339.3 0.144385 1 NBPF14 25832 __UNKNOWN__ __UNKNOWN__ 1 148004487 148004487 __UNKNOWN__ 3'UTR SNP T T A rs201659679 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:148004487T>A ENST00000369219.1 - 0 2843 Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 NA NA cytoplasm (GO:0005737) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TTCATTCAAATCTTCACGTGC 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092351 1q21.1 2013-01-17 ENSG00000122497 25832 neuroblastoma breakpoint family 25232 protein-coding gene gene with protein product 614003 NA 8619474, 9110174, 16079250 Standard NM_015383 NM_015383 NA Approved DJ328E19.C1.1 uc021owp.2 Q5TI25 OTTHUMG00000013900 ENST00000369219.1:c.*61A>T chr1.hg19:g.148004487T>A NA Q5TI23|Q8IX76|Q9UJI9 hg19 0.02 4.214299 AAAxCTT COVERED NOVEL NBPF14-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 3.008447 KEEP 23 0 0 10 300 TT 0.99257 0.992569 0 - 11 25 364 0 0 25.81655 106 60 3622 178 ENST00000369219.1 0.094017 0.999999 NBPF14 25832 __UNKNOWN__ __UNKNOWN__ 1 148010972 148010972 __UNKNOWN__ Silent SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:148010972A>G ENST00000369219.1 - 14 1666 c.1650T>C c.(1648-1650)tgT>tgC p.C550C Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 550 NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TCAGTTCAAGACAACCTGAAG 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 2 2 2 NA NA NA 1 NA NA 148010972 557 1411 1968 SO:0001819 synonymous_variant AK092351 1q21.1 2013-01-17 ENSG00000122497 25832 neuroblastoma breakpoint family 25232 protein-coding gene gene with protein product 614003 NA 8619474, 9110174, 16079250 Standard NM_015383 NM_015383 NA Approved DJ328E19.C1.1 uc021owp.2 Q5TI25 OTTHUMG00000013900 ENST00000369219.1:c.1650T>C chr1.hg19:g.148010972A>G NA Q5TI23|Q8IX76|Q9UJI9 hg19 0.02 14.75646 AAGxCAA COVERED . . . . . . . . . . - 0.647 -0.811135 0.02798 . . ENSG00000122497 ENST00000310701 . . . . . . . . . . . T 0.08714 0.0216 . . . 0.09310 N 0.999998 . . . . . . T 0.36480 -0.9746 2 . . . . . . . . . . . A 556 . . V - 2 0 NBPF14 146477596 0.960000 0.32886 0.003000 0.11579 0.003000 0.03518 -0.165000 0.09968 -0.568000 0.06038 -0.564000 0.04169 GTC NOVEL NBPF14-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 8.355901 KEEP 58 1 38 41 1238 AA 0.999997 0.999997 0 - 12 40 446 0 0 27.214712 367 40 12688 644 ENST00000369219.1 0.031662 1 NBPF20 100288142 __UNKNOWN__ __UNKNOWN__ 1 148251814 148251814 __UNKNOWN__ 3'UTR SNP T T A rs200580822 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:148251814T>A ENST00000369202.1 - 0 14124 Q3BBV1 NBPFK_HUMAN neuroblastoma breakpoint family, member 20 NA NA cytoplasm (GO:0005737) breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 TTCATTCAAATCTTCACGTGC 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS72856.1 1q21.2 2014-01-16 ENSG00000203832 100288142 neuroblastoma breakpoint family 32000 protein-coding gene gene with protein product 614007 NA 16079250 Standard NM_001278267 NA Approved Q3BBV1 OTTHUMG00000042439 ENST00000369202.1:c.*61A>T chr1.hg19:g.148251814T>A NA hg19 0.02 1.708367 AAAxCTT COVERED NOVEL NBPF20-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000100689.2 0 2.708186 KEEP 5 0 0 9 283 TT 0.99254 0.992346 0 - 8 45 283 0 0 20.440481 81 60 2713 136 ENST00000369202.1 0.089888 0.999804 NBPF20 100288142 __UNKNOWN__ __UNKNOWN__ 1 148341981 148341981 __UNKNOWN__ Missense_Mutation SNP T T C rs4659311 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:148341981T>C ENST00000369202.1 - 6 789 c.592A>G c.(592-594)Aaa>Gaa p.K198E NBPF20_ENST00000414710.2_Missense_Mutation_p.K198E Q3BBV1 NBPFK_HUMAN neuroblastoma breakpoint family, member 20 198 NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 TCAGGGACTTTGCTCTCTTCA 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C 427,3963 0,427,1768 87 97 94 NA -1 0 1 dbSNP_111 94 1524,7034 0,1524,2755 no intergenic 0,1951,4523 CC,CT,TT NA 17.8079,9.7267,15.068 148341981 1951,10997 2195 4279 6474 SO:0001583 missense CCDS72856.1 1q21.2 2014-01-16 ENSG00000203832 100288142 neuroblastoma breakpoint family 32000 protein-coding gene gene with protein product 614007 NA 16079250 Standard NM_001278267 NA Approved Q3BBV1 OTTHUMG00000042439 ENST00000369202.1:c.592A>G chr1.hg19:g.148341981T>C ENSP00000358203:p.Lys198Glu NA hg19 0.02 2.070831 CTTxGCT UNCOVERED . . . . . . . . . . . 0.007 -1.981601 0.00448 0.097267 0.178079 ENSG00000203832 ENST00000369202;ENST00000369188;ENST00000369189;ENST00000414710 T;T;T;T 0.01998 4.51;4.51;4.51;4.51 0.514 -1.03 0.10102 DUF1220 (2); . . . . T 0.00815 0.0027 . . . 0.21220 N 0.999751 P;P;B;P 0.51057 0.673;0.941;0.001;0.646 B;P;B;P 0.60415 0.071;0.874;0.001;0.621 T 0.16158 -1.0412 6 0.02654 T 1 . . . . rs4659311 123;198;198;123 Q6P3W6-2;Q6P3W6;F5H1Q5;Q5VTG7 .;NBPFA_HUMAN;.;. E 198;198;123;198 ENSP00000358203:K198E;ENSP00000358189:K198E;ENSP00000358190:K123E;ENSP00000389520:K198E ENSP00000358189:K198E K - 1 0 NBPF20 146708605 0.928000 0.31464 0.001000 0.08648 0.005000 0.04900 -0.451000 0.06795 -1.309000 0.02315 -1.550000 0.00899 AAA NOVEL NBPF20-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000100689.2 0 2.998751 KEEP 22 0 0 10 274 TT 0 0 0 - 12 47 384 0 0 31.191214 47 48 1620 100 ENST00000369202.1 0.20339 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148536098 148536098 __UNKNOWN__ IGR SNP C C T rs2938052 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:148536098C>T NA NA NBPF20 (189047 upstream) : NBPF15 (19880 downstream) NA NA NA gttttcaccacgtcggccagg 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.148536098C>T NA hg19 0.02 -0.061411 CCAxGTC UNCOVERED NOVEL 0 2 2.708477 KEEP 1 0 0 9 303 CC 0.99257 0.043461 0 3 60 106 0 0 10.569762 2 60 71 21 0.6 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148859529 148859529 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:148859529G>A NA NA RP11-763B22.6 (5812 upstream) : RNA5SP59 (53743 downstream) NA NA NA ctgcagtctcgaccttccagg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.148859529G>A NA hg19 0.02 -0.209522 CTCxACC COVERED NOVEL 0 5 3.911551 KEEP 1 0 0 13 400 GG 0.993634 0.518837 0 3 47 104 0 0 7.964568 20 60 628 40 0.130435 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148859650 148859650 __UNKNOWN__ IGR SNP C C G rs58066557 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:148859650C>G NA NA RP11-763B22.6 (5933 upstream) : RNA5SP59 (53622 downstream) NA NA NA cactatattgcccaggctggt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.148859650C>G NA hg19 0.02 -0.271967 TTGxCCA COVERED NOVEL 0 10 4.449404 KEEP 13 1 32 26 905 CC 0.999859 0.717214 0 4 40 143 0 0 11.093139 26 48 939 79 0.133333 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148864642 148864642 __UNKNOWN__ IGR SNP G G T rs111609219 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:148864642G>T NA NA RP11-763B22.6 (10925 upstream) : RNA5SP59 (48630 downstream) NA NA NA CTTCTGGGGCGCCTGGCATCC 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.148864642G>T NA hg19 0.02 3.993937 GGCxCCT COVERED NOVEL 0 2 3.009366 KEEP 5 0 0 10 340 GG 0.992708 0.992708 0 21 49 708 0 0 55.528982 114 50 3837 195 0.155556 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148890273 148890273 __UNKNOWN__ IGR SNP A A G rs200628157 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:148890273A>G NA NA RP11-763B22.6 (36556 upstream) : RNA5SP59 (22999 downstream) NA NA NA TTAAAATTTGAAATGCTTTAC 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.148890273A>G NA hg19 0.02 1.936633 TTGxAAT COVERED NOVEL 0 1 2.706046 KEEP 30 0 0 9 242 AA 0.99254 0.99248 0 15 27 553 0 0 44.316376 82 50 2813 150 0.154639 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 149028977 149028977 __UNKNOWN__ IGR SNP G G T rs55697632 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:149028977G>T NA NA RP11-14N7.2 (77382 upstream) : AL732363.1 (7334 downstream) NA NA NA aggcaggaagggagAAAACAG 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.149028977G>T NA hg19 0.02 -0.096495 AAGxGAG UNCOVERED NOVEL 0 16 3.909646 KEEP 4 0 0 13 421 GG 0.99254 0.119538 0 4 60 127 0 0 11.68497 6 60 212 27 0.4 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 149724566 149724566 __UNKNOWN__ IGR SNP G G A rs202130626 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:149724566G>A NA NA RP11-353N4.5 (5204 upstream) : HIST2H2BF (29678 downstream) NA NA NA CTTATGGGGTGTTATGTACTT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.149724566G>A NA hg19 0.02 1.830304 GGTxTTA UNCOVERED NOVEL 0 1 2.345494 KEEP 35 0 0 8 246 GG 0 0 0 5 40 167 0 0 11.331976 63 50 2230 147 0.073529 0.998465 PLEKHO1 51177 __UNKNOWN__ __UNKNOWN__ 1 150131393 150131393 __UNKNOWN__ Missense_Mutation SNP C C T rs141878048 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:150131393C>T ENST00000369124.4 + 6 1183 c.905C>T c.(904-906)cCg>cTg p.P302L PLEKHO1_ENST00000025469.6_Missense_Mutation_p.P268L|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.P119L NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 302 Interaction with ATM, CKIP, IFP35 and NMI. NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTCCCCAACCCGGGGCAGCTG 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C LEU/PRO 0,4402 0,0,2201 28 33 31 NA 905 4.3 0.3 1 dbSNP_134 31 1,8595 0,1,4297 no missense PLEKHO1 NM_016274.4 98 0,1,6498 TT,TC,CC NA 0.0116,0.0,0.0077 benign 302/410 150131393 1,12997 2201 4298 6499 SO:0001583 missense AF073836 CCDS945.1 1q21.2 2013-01-10 ENSG00000023902 ENSG00000023902 51177 Pleckstrin homology (PH) domain containing 24310 protein-coding gene gene with protein product 608335 NA 10799509 Standard NM_016274 NM_016274 NA Approved CKIP-1, OC120 uc001ett.3 Q53GL0 OTTHUMG00000012510 ENST00000369124.4:c.905C>T chr1.hg19:g.150131393C>T ENSP00000358120:p.Pro302Leu NA Q336K5|Q8IZ51|Q9NRV3|Q9UL48 hg19 CCDS945.1 0.02 10.974301 ACCxGGG COVERED . . . . . . . . . . C 14.07 2.425373 0.43020 0.0 1.16E-4 ENSG00000023902 ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340 T;T 0.47869 0.83;0.89 5.24 4.33 0.51752 . 0.455677 0.24774 N 0.035712 T 0.26882 0.0658 L 0.54323 1.7 0.58432 D 0.999996 B 0.18310 0.027 B 0.09377 0.004 T 0.11470 -1.0586 10 0.34782 T 0.22 -18.251 12.8929 0.58082 0.0:0.9224:0.0:0.0776 . 302 Q53GL0 PKHO1_HUMAN L 119;268;302;182 ENSP00000025469:P268L;ENSP00000358120:P302L ENSP00000025469:P268L P + 2 0 PLEKHO1 148398017 0.975000 0.34042 0.253000 0.24343 0.185000 0.23345 3.609000 0.54117 1.448000 0.47680 0.655000 0.94253 CCG NOVEL PLEKHO1-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034962.1 4 28.585068 KEEP 0 0 0 95 3074 CC 1 1 0 + 132 60 4563 0 0 434.898915 149 60 4904 452 ENST00000369124.4 0.469751 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 151254410 151254410 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:151254410G>T NA NA RP11-126K1.2 (5 upstream) : ZNF687 (380 downstream) NA NA NA AGGGAGCGAGGGGCGGAGACG 0.592 NA NA OREG0003910|OREG0003911 type=REGULATORY REGION|Gene=BC021024|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=ZNF687|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.151254410G>T 1738 hg19 0.02 20.070749 GAGxGGC COVERED NOVEL 0 2 56.831154 KEEP 0 0 0 189 6191 GG 1 1 0 130 60 4125 0 0 348.344481 384 60 13058 755 0.252918 1 SNX27 81609 __UNKNOWN__ __UNKNOWN__ 1 151669006 151669006 __UNKNOWN__ 3'UTR SNP T T G rs1308138 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:151669006T>G ENST00000368843.3 + 0 4636 SNX27_ENST00000458013.2_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 NA NA endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) tcgttctttctttctttcttt 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(46;291 966 40145 41237 41888) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007957 CCDS1001.1 1q21.3 2008-03-11 ENSG00000143376 ENSG00000143376 81609 Sorting nexins 20073 protein-coding gene gene with protein product 611541 NA 12461558 Standard NM_030918 XM_005245509 NA Approved MY014, KIAA0488, MGC20471 uc001eyn.1 Q96L92 OTTHUMG00000013052 ENST00000368843.3:c.*2929T>G chr1.hg19:g.151669006T>G NA Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8 hg19 CCDS1001.1 0.02 19.178587 TTCxTTC COVERED NOVEL SNX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104568.1 30 9.289485 KEEP 3 5 142 81 2406 TT 1 1 0 + 45 60 1304 0 0 85.362974 490 60 17408 662 ENST00000368843.3 0.084112 1 SNX27 81609 __UNKNOWN__ __UNKNOWN__ 1 151669014 151669014 __UNKNOWN__ 3'UTR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:151669014T>G ENST00000368843.3 + 0 4644 SNX27_ENST00000458013.2_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 NA NA endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) tctttctttctttctttctct 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(46;291 966 40145 41237 41888) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007957 CCDS1001.1 1q21.3 2008-03-11 ENSG00000143376 ENSG00000143376 81609 Sorting nexins 20073 protein-coding gene gene with protein product 611541 NA 12461558 Standard NM_030918 XM_005245509 NA Approved MY014, KIAA0488, MGC20471 uc001eyn.1 Q96L92 OTTHUMG00000013052 ENST00000368843.3:c.*2937T>G chr1.hg19:g.151669014T>G NA Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8 hg19 CCDS1001.1 0.02 20.548568 TTCxTTC COVERED NOVEL SNX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104568.1 40 19.94135 KEEP 3 3 90 98 2884 TT 1 1 0 + 30 60 895 0 0 53.18398 530 60 18967 732 ENST00000368843.3 0.053571 1 FLG 2312 __UNKNOWN__ __UNKNOWN__ 1 152285406 152285406 __UNKNOWN__ Silent SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:152285406C>T ENST00000368799.1 - 3 1991 c.1956G>A c.(1954-1956)caG>caA p.Q652Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 652 Ser-rich. NA establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATCTCTTGACTGCTCCTGAG 0.552 NA NA Ichthyosis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 236 244 242 NA NA NA 1 NA NA 152285406 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312 EF-hand domain containing 3748 protein-coding gene gene with protein product 135940 NA 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 NA Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.1956G>A chr1.hg19:g.152285406C>T NA Q01720|Q5T583|Q9UC71 hg19 CCDS30860.1 0.02 7.909379 TGAxTGC COVERED NOVEL FLG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033742.1 1 2.407532 KEEP 0 0 0 8 272 CC 0.99257 0.99257 0 - 46 60 1568 0 0 128.493622 187 60 6636 262 ENST00000368799.1 0.197425 1 S100A7A 338324 __UNKNOWN__ __UNKNOWN__ 1 153393436 153393436 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:153393436C>A ENST00000368729.4 + 0 2014 NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A NA NA cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|protein self-association (GO:0043621) cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TTGTCCTCCTCTCTCCTCCAC 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY189118 CCDS30872.1 1q22 2013-01-10 2006-09-11 2006-09-11 ENSG00000184330 ENSG00000184330 338324 S100 calcium binding proteins, EF-hand domain containing 21657 protein-coding gene gene with protein product NA S100 calcium binding protein A15, S100 calcium binding protein A7-like 1 S100A15, S100A7L1 NA 11230159 Standard NM_176823 NM_176823 NA Approved S100A7f uc001fbt.1 Q86SG5 OTTHUMG00000013122 ENST00000368729.4:c.*1651C>A chr1.hg19:g.153393436C>A NA D3DV38|Q5SY69 hg19 CCDS30872.1 0.02 25.21447 CCTxTCT COVERED NOVEL S100A7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000036786.2 3 13.526989 KEEP 0 0 0 45 1509 CC 1 1 0 + 164 60 5484 0 0 463.907967 513 60 18366 872 ENST00000368729.4 0.242245 1 ADAR 103 __UNKNOWN__ __UNKNOWN__ 1 154580278 154580278 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:154580278G>T ENST00000368474.4 - 1 215 ADAR_ENST00000471068.1_Intron|ADAR_ENST00000292205.5_Intron|ADAR_ENST00000368471.3_Intron NM_001111.4|NM_015840.3|NM_015841.3 NP_001102|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific NA NA adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530) DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TTGGCAAGACGACACACACCC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC038227 CCDS1071.1, CCDS30879.1 1q21.3 2012-03-22 ENSG00000160710 ENSG00000160710 103 3.5.4.- 225 protein-coding gene gene with protein product 146920 interferon-induced protein 4 IFI4, G1P1 NA 7972084 Standard NM_001111 NM_001111 NA Approved ADAR1 uc001ffh.3 P55265 OTTHUMG00000037261 ENST00000368474.4:c.15+189C>A chr1.hg19:g.154580278G>T NA B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4 hg19 CCDS1071.1 0.02 5.494741 GACxACA COVERED NOVEL ADAR-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000090691.2 8 17.149228 KEEP 7 0 0 57 1735 GG 1 1 0 - 8 40 256 0 0 15.046175 182 60 5376 270 ENST00000368474.4 0.042105 1 ADAR 103 __UNKNOWN__ __UNKNOWN__ 1 154580299 154580299 __UNKNOWN__ Intron SNP A A T rs113530848 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:154580299A>T ENST00000368474.4 - 1 215 ADAR_ENST00000471068.1_Intron|ADAR_ENST00000292205.5_Intron|ADAR_ENST00000368471.3_Intron NM_001111.4|NM_015840.3|NM_015841.3 NP_001102|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific NA NA adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530) DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) ACACACACACACTCACAAGAC 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC038227 CCDS1071.1, CCDS30879.1 1q21.3 2012-03-22 ENSG00000160710 ENSG00000160710 103 3.5.4.- 225 protein-coding gene gene with protein product 146920 interferon-induced protein 4 IFI4, G1P1 NA 7972084 Standard NM_001111 NM_001111 NA Approved ADAR1 uc001ffh.3 P55265 OTTHUMG00000037261 ENST00000368474.4:c.15+168T>A chr1.hg19:g.154580299A>T NA B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4 hg19 CCDS1071.1 0.02 10.149533 CACxCTC COVERED NOVEL ADAR-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000090691.2 13 31.866247 KEEP 4 0 0 106 3121 AA 1 1 0 - 10 49 352 0 0 21.786597 238 60 7946 385 ENST00000368474.4 0.040323 1 LMNA 4000 __UNKNOWN__ __UNKNOWN__ 1 156101188 156101188 __UNKNOWN__ Intron SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:156101188G>C ENST00000368300.4 + 2 725 LMNA_ENST00000368301.2_Intron|LMNA_ENST00000392353.3_Intron|LMNA_ENST00000368297.1_Intron|LMNA_ENST00000361308.4_Intron|LMNA_ENST00000368299.3_Intron|LMNA_ENST00000473598.2_Intron|LMNA_ENST00000347559.2_Intron|LMNA_ENST00000448611.2_Intron NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) structural molecule activity (GO:0005198) NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) agaccagcctgggcaacacag 0.502 NA NA Werner syndrome;Hutchinson-Gilford Progeria Syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database WS, Adult Progeria;HGPS, Progeria BC014507 CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1 1q22 2014-09-17 ENSG00000160789 ENSG00000160789 4000 Intermediate filaments type V, lamins 6636 protein-coding gene gene with protein product 150330 cardiomyopathy, dilated 1A (autosomal dominant), limb girdle muscular dystrophy 1B (autosomal dominant), progeria 1 (Hutchinson-Gilford type), lamin A/C-like 1 LMN1, CMD1A, LGMD1B, PRO1, LMNL1 NA 8511676, 8838815, 12702809 Standard NM_170707 NM_005572 NA Approved HGPS uc001fni.3 P02545 OTTHUMG00000013961 ENST00000368300.4:c.513+624G>C chr1.hg19:g.156101188G>C NA B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2 hg19 CCDS1129.1 0.02 -0.078959 CCTxGGC UNCOVERED NOVEL LMNA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039200.2 1 2.693101 KEEP 0 0 0 9 293 GG 0.99254 0.076759 0 + 3 60 109 0 0 9.843446 6 60 222 27 ENST00000368300.4 0.333333 0.077336 ARHGEF11 9826 __UNKNOWN__ __UNKNOWN__ 1 157014362 157014362 __UNKNOWN__ 5'UTR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:157014362A>C ENST00000368194.3 - 0 800 ARHGEF11_ENST00000361409.2_5'UTR NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020) G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) agaaaagaaaagaaaaaagaa 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB002378 CCDS1162.1, CCDS1163.1 1q21 2011-11-16 ENSG00000132694 ENSG00000132694 9826 Rho guanine nucleotide exchange factors 14580 protein-coding gene gene with protein product 605708 NA 10526156, 9205841 Standard NM_198236 NM_014784 NA Approved KIAA0380, GTRAP48, PDZ-RHOGEF uc001fqn.3 O15085 OTTHUMG00000041292 ENST00000368194.3:c.-240T>G chr1.hg19:g.157014362A>C NA D3DVD0|Q5VY40|Q6PFW2 hg19 CCDS1163.1 0.02 5.903877 AAAxGAA COVERED NOVEL ARHGEF11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000098930.1 4 12.637126 KEEP 0 0 0 42 1286 AA 1 1 0 - 39 60 1241 1 0 102.18336 138 60 4752 248 ENST00000368194.3 0.220339 1 KIRREL 55243 __UNKNOWN__ __UNKNOWN__ 1 158066337 158066337 __UNKNOWN__ 3'UTR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:158066337G>T ENST00000368172.1 + 0 3155 Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) NA NA excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) myosin binding (GO:0017022) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GACCTGGAGAGGTAAGGGGCC 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001707 CCDS1172.2, CCDS72952.1 1q21-q25 2013-01-29 ENSG00000183853 ENSG00000183853 55243 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 15734 protein-coding gene gene with protein product nephrin-like protein 1 607428 NA 12424224 Standard NM_018240 NM_001286349 NA Approved NEPH1 uc001frn.4 Q96J84 OTTHUMG00000022438 ENST00000368172.1:c.*1427G>T chr1.hg19:g.158066337G>T NA Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5 hg19 0.02 22.570867 AGAxGTA COVERED NOVEL KIRREL-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000058344.2 2 15.043906 KEEP 0 0 0 50 1720 GG 1 1 0 + 264 60 8910 0 0 845.9855 306 60 11100 676 ENST00000368172.1 0.463158 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 158443599 158443599 __UNKNOWN__ IGR SNP T T C rs6695294 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:158443599T>C NA NA OR10K1 (7255 upstream) : RP11-144L1.4 (644 downstream) NA NA NA tctgcttccttcctccctcct 0.532 NA NA t||| 1674 0.334265 0.3918 0.2723 5008 , , NA 16601 0.3194 NA 0.3211 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.158443599T>C NA hg19 0.02 -0.096493 CCTxCCT UNCOVERED NOVEL 0 4 2.708096 KEEP 0 0 0 9 277 TT 0.99254 0.119538 0 5 60 164 0 0 15.493738 6 51 198 22 0.454545 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 161376403 161376403 __UNKNOWN__ IGR SNP C C T rs549884255 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:161376403C>T NA NA RNU6-481P (5218 upstream) : FCGR2A (98816 downstream) NA NA NA ACAATGGCCACGTTGGTCTGG 0.587 NA NA C||| 3 0.000599042 8e-04 0 5008 , , NA 18387 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.161376403C>T NA hg19 0.02 -0.385946 CCAxGTT COVERED NOVEL 0 0 3.912096 KEEP 0 0 0 13 426 CC 0.994391 0.91302 0 20 60 693 0 0 65.677422 24 60 802 71 0.454545 0.918171 FCGR2A 2212 __UNKNOWN__ __UNKNOWN__ 1 161487914 161487914 __UNKNOWN__ Silent SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:161487914C>T ENST00000271450.6 + 7 968 c.930C>T c.(928-930)aaC>aaT p.N310N RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.N309N|FCGR2A_ENST00000486608.1_3'UTR NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 310 NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTCCTCCCAACGACCATGTCA 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 77 77 77 NA NA NA 1 NA NA 161487914 2203 4297 6500 SO:0001819 synonymous_variant J03619 CCDS30922.1, CCDS44264.1 1q23 2013-01-11 2005-02-02 ENSG00000143226 ENSG00000143226 2212 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3616 protein-coding gene gene with protein product Immunoglobulin G Fc receptor II 146790 Fc fragment of IgG, low affinity IIa, receptor for (CD32) FCG2, FCGR2A1, FCGR2 NA 2139735 Standard NM_021642 NM_021642 NA Approved CD32, CD32A, IGFR2, CDw32 uc001gan.3 P12318 OTTHUMG00000034469 ENST00000271450.6:c.930C>T chr1.hg19:g.161487914C>T NA Q8WUN1|Q8WW64 hg19 CCDS44264.1 0.02 20.94389 CAAxGAC COVERED NOVEL FCGR2A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000083318.3 3 5.281321 KEEP 120 5 149 70 2246 CC 1 1 0 + 22 40 727 0 0 43.161601 527 50 17353 839 ENST00000271450.6 0.040073 1 FCGR2A 2212 __UNKNOWN__ __UNKNOWN__ 1 161488557 161488557 __UNKNOWN__ 3'UTR SNP C C A rs6427602 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:161488557C>A ENST00000271450.6 + 0 1611 RP11-25K21.6_ENST00000537821.2_RNA NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) tgccatcatacccagctaatt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J03619 CCDS30922.1, CCDS44264.1 1q23 2013-01-11 2005-02-02 ENSG00000143226 ENSG00000143226 2212 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3616 protein-coding gene gene with protein product Immunoglobulin G Fc receptor II 146790 Fc fragment of IgG, low affinity IIa, receptor for (CD32) FCG2, FCGR2A1, FCGR2 NA 2139735 Standard NM_021642 NM_021642 NA Approved CD32, CD32A, IGFR2, CDw32 uc001gan.3 P12318 OTTHUMG00000034469 ENST00000271450.6:c.*619C>A chr1.hg19:g.161488557C>A NA Q8WUN1|Q8WW64 hg19 CCDS44264.1 0.02 5.355409 ATAxCCA COVERED NOVEL FCGR2A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000083318.3 1 5.940391 KEEP 6 2 57 40 1285 CC 1 1 0 + 20 33 642 0 0 47.688368 138 60 4728 221 ENST00000271450.6 0.126582 1 HSD17B7 51478 __UNKNOWN__ __UNKNOWN__ 1 162773301 162773301 __UNKNOWN__ Silent SNP G G A rs2257578 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:162773301G>A ENST00000254521.3 + 6 778 c.723G>A c.(721-723)acG>acA p.T241T HSD17B7_ENST00000367917.3_Intron|HSD17B7_ENST00000485405.1_3'UTR NM_016371.2 NP_057455.1 P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 241 NA cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) TTATATGGACGCTGTTGATGC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 140 121 127 NA NA NA 1 NA NA 162773301 2203 4300 6503 SO:0001819 synonymous_variant AF098786 CCDS1242.1 1q23 2011-09-14 ENSG00000132196 ENSG00000132196 51478 1.1.1.270 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 5215 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 37C, member 1 606756 NA 10544267, 10419022, 19027726 Standard NM_016371 NM_016371 NA Approved PRAP, SDR37C1 uc001gci.3 P56937 OTTHUMG00000034420 ENST00000254521.3:c.723G>A chr1.hg19:g.162773301G>A NA Q5T246|Q7Z4V9|Q8WWS2|Q9UF00 hg19 CCDS1242.1 0.02 6.354961 GACxCTG COVERED NOVEL HSD17B7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083207.1 3 9.886407 KEEP 0 0 0 33 1133 GG 0.999998 0.999998 0 + 6 21 217 0 0 13.266164 166 60 5692 253 ENST00000254521.3 0.034884 1 PBX1 5087 __UNKNOWN__ __UNKNOWN__ 1 164532341 164532341 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:164532341C>A ENST00000559240.1 + 2 191 PBX1_ENST00000420696.2_Intron|PBX1_ENST00000540236.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000367897.1_Intron P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 NA NA adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GTCATGAAAACAACTGAAGCA 0.373 NA NA T TCF3, EWSR1 pre B-ALL, myoepithelioma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q23 5087 pre-B-cell leukemia transcription factor 1 L, M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M86546 CCDS1246.1, CCDS55654.1 1q23.3 2011-06-20 2007-01-30 ENSG00000185630 ENSG00000185630 5087 Homeoboxes / TALE class 8632 protein-coding gene gene with protein product 176310 pre-B-cell leukemia transcription factor 1 NA Standard NM_002585 NM_002585 NA Approved uc001gct.3 P40424 OTTHUMG00000034307 ENST00000559240.1:c.192-134C>A chr1.hg19:g.164532341C>A NA B4DSC1|F5H4U9|Q5T488 hg19 CCDS1246.1 0.02 2.75844 AAAxAAC COVERED NOVEL PBX1-012 NOVEL not_organism_supported|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000417688.1 0 9.177737 KEEP 0 0 0 31 826 CC 0.999997 0.999995 0 + 13 60 209 0 0 9.778264 105 60 3285 175 ENST00000559240.1 0.110169 0.999998 RXRG 6258 __UNKNOWN__ __UNKNOWN__ 1 165397996 165397996 __UNKNOWN__ Missense_Mutation SNP G G A rs142730991 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:165397996G>A ENST00000359842.5 - 2 559 c.257C>T c.(256-258)gCg>gTg p.A86V NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 86 Modulating. {ECO:0000250}. NA gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654) 9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755) TCCTGGAGGCGCTGCAAGTGC 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G VAL/ALA 0,4406 0,0,2203 54 60 58 NA 257 3.8 0.9 1 dbSNP_134 58 2,8598 2.2+/-6.3 0,2,4298 no missense RXRG NM_006917.4 64 0,2,6501 AA,AG,GG NA 0.0233,0.0,0.0154 benign 86/464 165397996 2,13004 2203 4300 6503 SO:0001583 missense U38480 CCDS1248.1, CCDS72970.1 1q22-q23 2013-01-16 ENSG00000143171 ENSG00000143171 6258 Nuclear hormone receptors 10479 protein-coding gene gene with protein product nuclear receptor subfamily 2 group B member 3 180247 NA 8034312 Standard NM_006917 NR_033824 NA Approved NR2B3 uc001gda.3 P48443 OTTHUMG00000034626 ENST00000359842.5:c.257C>T chr1.hg19:g.165397996G>A ENSP00000352900:p.Ala86Val NA A6NIP1|Q6IBU7 hg19 CCDS1248.1 0.02 3.924416 GGCxCTG COVERED . . . . . . . . . . G 13.19 2.163946 0.38217 0.0 2.33E-4 ENSG00000143171 ENST00000359842 D 0.92348 -3.02 4.71 3.8 0.43715 . 0.313156 0.35870 N 0.002923 T 0.77315 0.4112 N 0.19112 0.55 0.30795 N 0.7404740000000001 B 0.28026 0.198 B 0.25884 0.064 T 0.75286 -0.3371 9 0.56958 D 0.05 . 11.6737 0.51417 0.0864:0.0:0.9136:0.0 . 86 P48443 RXRG_HUMAN V 86 ENSP00000352900:A86V ENSP00000352900:A86V A - 2 0 RXRG 163664620 1.000000 0.71417 0.898000 0.35279 0.228000 0.25075 7.702000 0.84576 1.204000 0.43247 0.561000 0.74099 GCG NOVEL RXRG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083794.2 2 7.521995 KEEP 0 0 0 25 786 GG 0.999931 0.99993 0 - 38 60 1241 0 0 109.687984 82 60 2651 177 ENST00000359842.5 0.316667 0.999999 RC3H1 149041 __UNKNOWN__ __UNKNOWN__ 1 173961839 173961839 __UNKNOWN__ Intron SNP G G C rs12754931 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:173961839G>C ENST00000367696.2 - 2 583 RC3H1_ENST00000258349.4_Intron|RC3H1_ENST00000367694.2_Intron Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 NA NA B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470) cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494) mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 cacacacacagagagagagag 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093501 CCDS30940.1, CCDS72987.1 1q25.1 2013-01-18 2010-09-15 ENSG00000135870 ENSG00000135870 149041 RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing 29434 protein-coding gene gene with protein product KIAA2025 protein 609424 ring finger and CCCH-type zinc finger domains 1 NA 15917799 Standard NM_172071 XM_005244918 NA Approved KIAA2025, roquin, RP5-1198E17.5, RNF198 uc001gju.4 Q5TC82 OTTHUMG00000037275 ENST00000367696.2:c.231+53C>G chr1.hg19:g.173961839G>C NA B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1 hg19 CCDS30940.1 0.02 -0.403109 ACAxAGA COVERED NOVEL RC3H1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090733.2 0 3.045702 KEEP 0 1 34 22 784 GG 0.999892 0.934391 0 - 4 60 139 1 0 9.989739 40 60 1396 84 ENST00000367696.2 0.090909 0.934492 FAM20B 9917 __UNKNOWN__ __UNKNOWN__ 1 179013191 179013191 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:179013191G>T ENST00000263733.4 + 2 545 c.209G>T c.(208-210)tGg>tTg p.W70L NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B 70 NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 GCAGCCCAGTGGGTGGTTCCC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 59 58 58 NA NA NA 1 NA NA 179013191 2203 4300 6503 SO:0001583 missense AB007944 CCDS1328.1 1q25.2 2013-04-29 ENSG00000116199 ENSG00000116199 9917 23017 protein-coding gene gene with protein product glycosaminoglycan xylosylkinase 611063 NA 9455484, 19473117 Standard NM_014864 NM_014864 NA Approved KIAA0475, GXK1 uc001gmc.3 O75063 OTTHUMG00000035073 ENST00000263733.4:c.209G>T chr1.hg19:g.179013191G>T ENSP00000263733:p.Trp70Leu NA Q5W0C3|Q5W0C4 hg19 CCDS1328.1 0.02 12.804178 AGTxGGT COVERED . . . . . . . . . . G 20.9 4.065520 0.76187 . . ENSG00000116199 ENST00000440702;ENST00000263733 D 0.87256 -2.23 6.03 6.03 0.97812 . 0.000000 0.85682 D 0.000000 D 0.92828 0.7719 M 0.75615 2.305 0.80722 D 1 D 0.54601 0.967 P 0.62382 0.901 D 0.90408 0.4407 10 0.33141 T 0.24 -43.1128 20.5752 0.99366 0.0:0.0:1.0:0.0 . 70 O75063 XYLK_HUMAN L 70 ENSP00000263733:W70L ENSP00000263733:W70L W + 2 0 FAM20B 177279814 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 9.476000 0.97823 2.868000 0.98415 0.557000 0.71058 TGG NOVEL FAM20B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084922.1 1 23.310561 KEEP 0 0 0 78 2479 GG 1 1 0 + 123 60 4244 0 0 390.442731 197 60 6935 470 ENST00000263733.4 0.384375 1 FAM20B 9917 __UNKNOWN__ __UNKNOWN__ 1 179013192 179013192 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:179013192G>T ENST00000263733.4 + 2 546 c.210G>T c.(208-210)tgG>tgT p.W70C NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B 70 NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773) p.W70*(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 CAGCCCAGTGGGTGGTTCCCC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Nonsense(1) lung(1) 59 58 58 NA NA NA 1 NA NA 179013192 2203 4300 6503 SO:0001583 missense AB007944 CCDS1328.1 1q25.2 2013-04-29 ENSG00000116199 ENSG00000116199 9917 23017 protein-coding gene gene with protein product glycosaminoglycan xylosylkinase 611063 NA 9455484, 19473117 Standard NM_014864 NM_014864 NA Approved KIAA0475, GXK1 uc001gmc.3 O75063 OTTHUMG00000035073 ENST00000263733.4:c.210G>T chr1.hg19:g.179013192G>T ENSP00000263733:p.Trp70Cys NA Q5W0C3|Q5W0C4 hg19 CCDS1328.1 0.02 12.439663 GTGxGTG COVERED . . . . . . . . . . G 22.1 4.242313 0.79912 . . ENSG00000116199 ENST00000440702;ENST00000263733 D 0.88046 -2.33 6.03 6.03 0.97812 . 0.000000 0.85682 D 0.000000 D 0.93575 0.7949 M 0.75615 2.305 0.80722 D 1 D 0.69078 0.997 D 0.72338 0.977 D 0.92821 0.6272 10 0.56958 D 0.05 -43.1128 20.5752 0.99366 0.0:0.0:1.0:0.0 . 70 O75063 XYLK_HUMAN C 70 ENSP00000263733:W70C ENSP00000263733:W70C W + 3 0 FAM20B 177279815 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 9.476000 0.97823 2.868000 0.98415 0.557000 0.71058 TGG NOVEL FAM20B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084922.1 1 23.172973 KEEP 0 0 0 77 2570 GG 1 1 0 + 119 60 4170 0 0 383.088742 196 60 6758 466 ENST00000263733.4 0.377778 1 ABL2 27 __UNKNOWN__ __UNKNOWN__ 1 179077264 179077264 __UNKNOWN__ Silent SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:179077264C>T ENST00000502732.1 - 12 3341 c.3138G>A c.(3136-3138)gtG>gtA p.V1046V ABL2_ENST00000512653.1_Silent_p.V1031V|ABL2_ENST00000408940.3_Silent_p.V1010V|ABL2_ENST00000367623.4_Silent_p.V1025V|ABL2_ENST00000511413.1_Silent_p.V943V|ABL2_ENST00000507173.1_Silent_p.V922V|ABL2_ENST00000344730.3_Silent_p.V928V|ABL2_ENST00000504405.1_Silent_p.V907V NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN ABL proto-oncogene 2, non-receptor tyrosine kinase 1046 F-actin-binding. {ECO:0000250}.|Pro-rich. NA actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829) actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713) breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TGGGCAGAGGCACTTGAGGTG 0.542 NA NA T ETV6 AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q24-q25 27 v-abl Abelson murine leukemia viral oncogene homolog 2 L 0 84 79 81 NA NA NA 1 NA NA 179077264 2203 4300 6503 SO:0001819 synonymous_variant M14904 CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1 1q25.2 2014-06-26 2014-06-26 ENSG00000143322 ENSG00000143322 27 SH2 domain containing 77 protein-coding gene gene with protein product Abelson-related gene 164690 v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene), v-abl Abelson murine leukemia viral oncogene homolog 2, c-abl oncogene 2, non-receptor tyrosine kinase ABLL NA 3787260 Standard NM_005158 NM_001136001 NA Approved ARG uc001gmi.4 P42684 OTTHUMG00000035199 ENST00000502732.1:c.3138G>A chr1.hg19:g.179077264C>T NA A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301 hg19 CCDS30947.1 0.02 9.244961 AGGxACT COVERED NOVEL ABL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085174.3 3 19.256008 KEEP 0 0 0 64 2198 CC 1 1 0 - 103 60 3238 0 0 299.128265 148 60 5310 380 ENST00000502732.1 0.410359 1 TRMT1L 81627 __UNKNOWN__ __UNKNOWN__ 1 185094040 185094040 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:185094040A>C ENST00000367506.5 - 12 2028 TRMT1L_ENST00000367504.3_Intron NM_001202423.1|NM_030934.4 NP_001189352.1|NP_112196.3 Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like NA NA adult locomotory behavior (GO:0008344) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 TTTGGTAAGCAGTTTAAAGCT 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 97 89 92 NA NA NA 1 NA NA 185094040 2203 4300 6503 SO:0001627 intron_variant AF288399 CCDS1366.1 1q25.2 2012-06-29 2012-06-29 2011-01-24 ENSG00000121486 ENSG00000121486 81627 16782 protein-coding gene gene with protein product TRM1-like 611673 chromosome 1 open reading frame 25, TRM1 tRNA methyltransferase 1-like C1orf25 NA 11318611, 17198746 Standard NM_030934 NM_030934 NA Approved uc001grf.4 Q7Z2T5 OTTHUMG00000035389 ENST00000367506.5:c.1759+35T>G chr1.hg19:g.185094040A>C NA Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1 hg19 CCDS1366.1 0.02 6.505583 AGCxGTT COVERED NOVEL TRMT1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085787.1 0 6.92072 KEEP 0 0 0 23 714 AA 0.999892 0.999892 0 - 73 60 2470 0 0 227.048104 116 60 4099 266 ENST00000367506.5 0.386243 1 RGS2 5997 __UNKNOWN__ __UNKNOWN__ 1 192781337 192781337 __UNKNOWN__ 3'UTR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:192781337G>C ENST00000235382.5 + 0 1278 NM_002923.3 NP_002914.1 P41220 RGS2_HUMAN regulator of G-protein signaling 2 NA NA brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096) large_intestine(3)|lung(1)|urinary_tract(1) 5 AATCTGTCTTGAAGGCAGCTA 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(71;51 2183 4981) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L13463 CCDS1377.1 1q31 2014-06-19 2014-06-19 ENSG00000116741 ENSG00000116741 5997 Regulators of G-protein signaling, Endogenous ligands 9998 protein-coding gene gene with protein product 600861 regulator of G-protein signalling 2, 24kD, regulator of G-protein signalling 2, 24kDa, regulator of G-protein signaling 2, 24kDa G0S8 NA 8179820 Standard NM_002923 NM_002923 NA Approved uc001gsl.3 P41220 OTTHUMG00000035600 ENST00000235382.5:c.*611G>C chr1.hg19:g.192781337G>C NA Q6I9U5 hg19 CCDS1377.1 0.02 9.17787 CTTxAAG COVERED NOVEL RGS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086396.1 0 9.027099 KEEP 0 0 0 30 1002 GG 0.999997 0.999997 0 + 119 60 4355 0 0 424.676934 106 60 3823 288 ENST00000235382.5 0.528889 1 CFH 3075 __UNKNOWN__ __UNKNOWN__ 1 196712577 196712577 __UNKNOWN__ Intron SNP T T C rs513699 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:196712577T>C ENST00000367429.4 + 20 3373 NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H NA NA complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTTTTTTCTATTCAGACACCT 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 88 88 88 NA NA NA 1 NA NA 196712577 2203 4300 6503 SO:0001627 intron_variant Y00716 CCDS1385.1 1q32 2014-09-17 2004-08-09 2004-08-12 ENSG00000000971 ENSG00000000971 3075 Complement system 4883 protein-coding gene gene with protein product beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1 134370 H factor 1 (complement) HF, HF1, HF2 NA 2889480, 2963625 Standard NM_000186 NM_000186 NA Approved HUS, FHL1, ARMS1, ARMD4 uc001gtj.4 P08603 OTTHUMG00000035607 ENST00000367429.4:c.3134-5T>C chr1.hg19:g.196712577T>C NA A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86 hg19 CCDS1385.1 0.02 18.535304 CTAxTCA COVERED NOVEL CFH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086412.2 0 2.875254 KEEP 4 2 64 32 975 TT 0.999998 0.999998 0 + 53 42 1891 0 0 142.343877 420 60 14761 623 ENST00000367429.4 0.112051 1 ADORA1 134 __UNKNOWN__ __UNKNOWN__ 1 203135582 203135582 __UNKNOWN__ 3'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:203135582C>T ENST00000367236.4 + 0 2456 ADORA1_ENST00000309502.3_3'UTR|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_3'UTR NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor NA NA activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659) asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195) G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277) ATCAAGGAGCCTCCGTTCCCA 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026340 CCDS1434.1 1q32.1 2012-08-08 ENSG00000163485 ENSG00000163485 134 GPCR / Class A : Adenosine receptors 262 protein-coding gene gene with protein product 102775 NA 1662665, 2541503 Standard NM_000674 NM_001048230 NA Approved RDC7 uc001gzf.1 P30542 OTTHUMG00000042125 ENST00000367236.4:c.*554C>T chr1.hg19:g.203135582C>T NA A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8 hg19 CCDS1434.1 0.02 8.770921 AGCxTCC COVERED NOVEL ADORA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100273.1 1 5.71812 KEEP 0 0 0 19 648 CC 0.99986 0.99986 0 + 121 60 4194 0 0 418.025444 81 60 2836 251 ENST00000367236.4 0.59901 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 203369676 203369676 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:203369676A>T NA NA FMOD (49059 upstream) : PRELP (75279 downstream) NA NA NA CTTTCTAGCAAATCAACATAA 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.203369676A>T NA hg19 0.02 -0.201727 GCAxATC COVERED NOVEL 0 0 3.008025 KEEP 0 0 0 10 299 AA 0.992708 0.486967 0 15 60 505 0 0 51.203783 8 60 269 44 0.652174 0.490544 ETNK2 55224 __UNKNOWN__ __UNKNOWN__ 1 204109016 204109016 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:204109016A>G ENST00000367197.1 - 2 322 ETNK2_ENST00000367201.3_Intron|ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367202.4_Intron|ETNK2_ENST00000367198.2_Intron Q9NVF9 EKI2_HUMAN ethanolamine kinase 2 NA NA glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305) breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1) 7 all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) gtatctaaacatgtctaaaca 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001623 CCDS1442.2, CCDS73006.1 1q32.1 2008-02-05 ENSG00000143845 ENSG00000143845 55224 25575 protein-coding gene gene with protein product 609859 NA 12477932 Standard NM_018208 XM_005245302 NA Approved FLJ10761, EKI2 uc001hao.4 Q9NVF9 OTTHUMG00000036061 ENST00000367197.1:c.85+146T>C chr1.hg19:g.204109016A>G NA B7Z7K1|Q5SXX5|Q68CK3|Q96G05 hg19 0.02 5.019254 AACxTGT COVERED NOVEL ETNK2-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000098784.1 1 5.114869 KEEP 0 0 0 17 511 AA 0.999366 0.999366 0 - 49 60 1472 0 0 128.742621 105 60 3612 176 ENST00000367197.1 0.318182 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 206506763 206506763 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:206506763C>T NA NA CTSE (174659 upstream) : SRGAP2-AS1 (45455 downstream) NA NA NA TCTTCAGCTTCTTCAAGGTAT 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.206506763C>T NA hg19 0.02 -0.289427 CTTxTTC COVERED NOVEL 0 0 3.009487 KEEP 13 0 0 10 334 CC 0.99257 0.755234 0 5 40 145 0 0 10.793859 28 60 991 63 0.151515 0.760887 SRGAP2 23380 __UNKNOWN__ __UNKNOWN__ 1 206566903 206566903 __UNKNOWN__ Splice_Site SNP G G A rs2987927 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:206566903G>A ENST00000414007.1 + 3 284 c.284G>A c.(283-285)cGt>cAt p.R95H SRGAP2_ENST00000419187.2_5'UTR O75044 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 235 F-BAR domain. NA actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446) cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) CCTTTTCAGCGTCAAGCCAAG 0.408 NA NA g||| 3 0.000599042 0 0.0014 5008 , , NA 35930 0 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 78 67 70 NA NA NA 1 NA NA 206566903 1899 4122 6021 SO:0001630 splice_region_variant AB007925 CCDS73017.1 1q32.1 2014-08-13 2004-11-12 2004-11-12 ENSG00000163486 ENSG00000266028 23380 Rho GTPase activating proteins 19751 protein-coding gene gene with protein product 606524 formin binding protein 2 FNBP2 NA 15046868, 11672528 Standard NM_015326 XM_005277510 NA Approved KIAA0456, ARHGAP34, SRGAP2A uc001hdy.3 O75044 OTTHUMG00000184381 ENST00000414007.1:c.283-1G>A chr1.hg19:g.206566903G>A NA hg19 0.02 13.308012 AGCxTCA COVERED . . . . . . . . . . g 32 5.192443 0.94960 . . ENSG00000163486 ENST00000414359;ENST00000414007 T 0.55930 0.49 5.59 5.59 0.84812 . 0.000000 0.85682 D 0.000000 T 0.75925 0.3916 . . . 0.80722 D 1.000000 D;D;D 0.89917 1.0;0.996;0.958 D;P;B 0.83275 0.996;0.728;0.425 T 0.78645 -0.2123 8 0.87932 D 0 . 19.5856 0.95488 0.0:0.0:1.0:0.0 rs2987927;rs4844666 82;235;235 B4DDU0;O75044;B7Z3G4 .;FNBP2_HUMAN;. H 149;95 ENSP00000390898:R95H ENSP00000390898:R95H R + 2 0 SRGAP2 204633526 1.000000 0.71417 1.000000 0.80357 0.965000 0.64279 9.864000 0.99589 2.625000 0.88918 0.555000 0.69702 CGT NOVEL SRGAP2-201 KNOWN basic protein_coding NA protein_coding 5 6.487062 KEEP 6 2 64 44 1386 GG 1 1 0 Missense_Mutation + 14 40 461 0 0 26.841624 364 62 11142 497 ENST00000414007.1 0.037037 1 MAPKAPK2 9261 __UNKNOWN__ __UNKNOWN__ 1 206906813 206906813 __UNKNOWN__ 3'UTR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:206906813G>T ENST00000367103.3 + 0 2146 NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 NA NA 3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TGCCTGGGAAGCCCACCCAGA 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U12779 CCDS1466.1, CCDS31001.1 1q32 2008-02-05 ENSG00000162889 ENSG00000162889 9261 6887 protein-coding gene gene with protein product 602006 NA 8179591, 8280084 Standard NM_004759 NM_004759 NA Approved uc001hem.2 P49137 OTTHUMG00000036342 ENST00000367103.3:c.*750G>T chr1.hg19:g.206906813G>T NA Q5SY30|Q5SY41|Q8IYD6 hg19 CCDS31001.1 0.02 1.821518 GAAxCCC COVERED NOVEL MAPKAPK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088465.1 0 6.245872 KEEP 0 0 0 21 671 GG 0.999869 0.998565 0 + 41 60 1406 0 0 137.382677 35 60 1263 120 ENST00000367103.3 0.539474 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 209298044 209298044 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:209298044G>T NA NA RP5-1051D14.1 (149392 upstream) : RP11-385M4.1 (22567 downstream) NA NA NA ggaggctgaggtaggaggatt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.209298044G>T NA hg19 0.02 -0.070181 GAGxTAG UNCOVERED NOVEL 0 3 4.514469 KEEP 0 0 0 15 510 GG 0.99649 0.053947 0 4 60 129 0 0 12.399583 4 60 148 28 0.5 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 213189210 213189210 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:213189210G>T NA NA ANGEL2 (42 upstream) : RPS6KC1 (35378 downstream) NA NA NA GTCCCTGAATGCCTTAACCCG 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.213189210G>T NA hg19 0.02 7.019996 AATxCCT COVERED NOVEL 0 0 13.109398 KEEP 0 7 132 94 2210 GG 1 1 0 25 60 410 0 0 17.614647 270 60 6585 423 0.084746 1 PTPN14 5784 __UNKNOWN__ __UNKNOWN__ 1 214655823 214655823 __UNKNOWN__ Intron SNP C C T rs111690740 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:214655823C>T ENST00000366956.5 - 2 41 NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 NA NA lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TTTTAGGTTGCACATAATTAA 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(92;557 1424 24372 34121 40073) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X82676 CCDS1514.1 1q32.2 2011-06-09 ENSG00000152104 ENSG00000152104 5784 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9647 protein-coding gene gene with protein product 603155 NA 7733990 Standard NM_005401 NM_005401 NA Approved PEZ uc001hkk.2 Q15678 OTTHUMG00000037039 ENST00000366956.5:c.154-17523G>A chr1.hg19:g.214655823C>T NA Q5VSI0 hg19 CCDS1514.1 0.02 18.435221 TTGxACA COVERED NOVEL PTPN14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089918.2 1 4.285159 KEEP 27 5 144 65 2254 CC 1 1 0 - 26 60 805 0 0 48.795483 471 60 17078 722 ENST00000366956.5 0.052314 1 CAPN8 388743 __UNKNOWN__ __UNKNOWN__ 1 223718691 223718691 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:223718691G>A ENST00000366872.5 - 16 1698 A6NHC0 CAN8_HUMAN calpain 8 NA NA digestion (GO:0007586)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) NS(1)|endometrium(2)|prostate(1) 4 ACATGATTGAGTCCAAATTCT 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 90 82 84 NA NA NA 1 NA NA 223718691 692 1591 2283 SO:0001627 intron_variant CCDS73038.1 1q41 2013-01-10 2007-02-21 ENSG00000203697 ENSG00000203697 388743 EF-hand domain containing 1485 protein-coding gene gene with protein product NA calpain 8 (nCL-2) NA 7690035, 8889549 Standard NM_001143962 NM_001143962 NA Approved nCL-2 uc009xee.2 A6NHC0 OTTHUMG00000037378 ENST00000366872.5:c.1699-30C>T chr1.hg19:g.223718691G>A NA B2RXL2 hg19 0.02 8.433912 TGAxTCC COVERED NOVEL CAPN8-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 3.009573 KEEP 0 0 0 10 344 GG 0.992708 0.992708 0 - 50 60 1742 0 0 145.760089 180 60 6572 283 ENST00000366872.5 0.217391 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 224136159 224136159 __UNKNOWN__ IGR SNP A A G rs376877173 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:224136159A>G NA NA TP53BP2 (102485 upstream) : RP11-504P24.8 (2936 downstream) NA NA NA TATCAGAGACAGGCACTGCCA 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.224136159A>G NA hg19 0.02 -0.42083 GACxGGC UNCOVERED NOVEL 0 0 2.406949 KEEP 23 0 0 8 238 AA 0 0 0 15 40 434 0 0 37.601616 33 50 1168 82 0.3125 0.948402 GALNT2 2590 __UNKNOWN__ __UNKNOWN__ 1 230401024 230401024 __UNKNOWN__ Nonsense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:230401024C>T ENST00000366672.4 + 14 1423 c.1351C>T c.(1351-1353)Cag>Tag p.Q451* RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000543760.1_Nonsense_Mutation_p.Q413*|GALNT2_ENST00000485438.1_3'UTR NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 451 Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}. NA cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TGGGGCCTTGCAGCAGGGAAC 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 286 252 264 NA NA NA 1 NA NA 230401024 2203 4300 6503 SO:0001587 stop_gained BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 2590 2.4.1.41 Glycosyltransferase family 2 domain containing 4124 protein-coding gene gene with protein product polypeptide GalNAc transferase 2 602274 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) NA 9592121, 7592619 Standard NM_004481 NM_004481 NA Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.1351C>T chr1.hg19:g.230401024C>T ENSP00000355632:p.Gln451* NA A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 hg19 CCDS1582.1 0.02 11.502474 TTGxAGC COVERED . . . . . . . . . . C 40 8.353828 0.98774 . . ENSG00000143641 ENST00000543760;ENST00000366672;ENST00000543291 . . . 5.34 5.34 0.76211 . 0.770467 0.13180 N 0.407589 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.20046 T 0.44 . 19.0469 0.93025 0.0:1.0:0.0:0.0 . . . . X 413;451;332 . ENSP00000355632:Q451X Q + 1 0 GALNT2 228467647 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.802000 0.85969 2.497000 0.84241 0.561000 0.74099 CAG NOVEL GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092158.1 4 9.330238 KEEP 0 0 0 31 1083 CC 0.999997 0.999997 0 + 68 60 2272 0 0 186.368732 266 60 9710 466 ENST00000366672.4 0.203593 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 234461748 234461748 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:234461748A>G NA NA SLC35F3 (1486 upstream) : RP5-827C21.2 (31003 downstream) NA NA NA aagaagaagaagaagaagaag 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.234461748A>G NA hg19 0.02 -0.078952 AGAxGAA UNCOVERED NOVEL 0 5 2.407325 KEEP 5 0 0 8 250 AA 0 0 0 2 60 75 0 0 6.50068 6 60 205 18 0.25 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 236260555 236260555 __UNKNOWN__ IGR SNP C C T rs12035152 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:236260555C>T NA NA NID1 (32093 upstream) : GPR137B (45276 downstream) NA NA NA ATGgagcaggcggccaggggt 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.236260555C>T NA hg19 0.02 -0.245398 AGGxGGC UNCOVERED NOVEL 0 1 3.008184 KEEP 31 0 0 10 324 CC 0 0 0 5 20 165 1 0 13.270444 22 25 640 125 0.185185 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 242083806 242083806 __UNKNOWN__ IGR SNP G G C rs10754739 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:242083806G>C NA NA EXO1 (30565 upstream) : MAP1LC3C (74985 downstream) NA NA NA ttctgacctcgtgatccaccc 0.488 NA NA C||| 3543 0.707468 0.5613 0.7305 5008 , , NA 15642 0.8859 NA 0.7555 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.242083806G>C NA hg19 0.02 -0.087574 CTCxTGA UNCOVERED NOVEL 0 2 2.407651 KEEP 0 0 0 8 266 GG 0.99257 0.09898 0 4 60 144 0 0 13.390665 6 60 187 22 0.4 0.099721 DESI2 51029 __UNKNOWN__ __UNKNOWN__ 1 244871811 244871811 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:244871811G>A ENST00000302550.11 + 0 3684 NM_016076.3 NP_057160.2 Q9BSY9 DESI2_HUMAN desumoylating isopeptidase 2 NA NA cytoplasm (GO:0005737) peptidase activity (GO:0008233) NA TTAGTCCATTGGTAGCATTGT 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025651 CCDS1626.1, CCDS73055.1 1q44 2012-05-16 2012-05-16 2012-05-16 ENSG00000121644 ENSG00000121644 51029 24264 protein-coding gene gene with protein product 614638 chromosome 1 open reading frame 121, family with sequence similarity 152, member A, PPPDE peptidase domain containing 1 C1orf121, FAM152A, PPPDE1 NA 10810093, 22370726 Standard NM_016076 XM_005273154 NA Approved CGI-146, FLJ21998 uc001iao.3 Q9BSY9 OTTHUMG00000040398 ENST00000302550.11:c.*2720G>A chr1.hg19:g.244871811G>A NA B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4 hg19 CCDS1626.1 0.02 6.044614 ATTxGTA COVERED NOVEL DESI2-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097168.1 1 3.309978 KEEP 0 0 0 11 364 GG 0.993072 0.993072 0 + 92 60 3118 0 0 296.84218 104 60 3698 237 ENST00000302550.11 0.469388 1 SMYD3 64754 __UNKNOWN__ __UNKNOWN__ 1 246381647 246381647 __UNKNOWN__ Intron SNP C C T rs12116875 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:246381647C>T ENST00000490107.1 - 5 571 SMYD3_ENST00000541742.1_Intron|SMYD3_ENST00000388985.4_Intron NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 NA NA cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162) breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) ggcaacaggccgggcgcggtg 0.532 NA NA c||| 1117 0.223043 0.1293 0.3199 5008 , , NA 15838 0.3562 NA 0.1441 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023594 CCDS31083.1 1q44 2011-07-01 2003-05-14 2003-05-16 ENSG00000185420 ENSG00000185420 64754 Zinc fingers, MYND-type, Chromatin-modifying enzymes / K-methyltransferases 15513 protein-coding gene gene with protein product 608783 zinc finger, MYND domain containing 1 ZNFN3A1, ZMYND1 NA Standard NM_022743 NM_022743 NA Approved KMT3E uc001ibl.3 Q9H7B4 OTTHUMG00000040508 ENST00000490107.1:c.354+108855G>A chr1.hg19:g.246381647C>T NA A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5 hg19 CCDS31083.1 0.02 -0.061405 GGCxGGG UNCOVERED NOVEL SMYD3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000097487.3 0 2.407518 KEEP 1 0 0 8 264 CC 0 0 0 - 2 60 72 0 0 6.335644 5 60 160 21 ENST00000490107.1 0.285714 0.043787 OR2T33 391195 __UNKNOWN__ __UNKNOWN__ 1 248437002 248437002 __UNKNOWN__ Missense_Mutation SNP C C T rs146010336 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:248437002C>T ENST00000318021.2 - 1 136 c.115G>A c.(115-117)Ggc>Agc p.G39S NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 39 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGGGAATTGCCAAACAGGGAG 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 33 35 35 NA NA NA 1 NA NA 248437002 2200 4276 6476 SO:0001583 missense CCDS31109.1 1q44 2012-08-09 ENSG00000177212 ENSG00000177212 391195 GPCR / Class A : Olfactory receptors 31255 protein-coding gene gene with protein product NA NA Standard NM_001004695 NM_001004695 NA Approved uc010pzi.2 Q8NG76 OTTHUMG00000040458 ENST00000318021.2:c.115G>A chr1.hg19:g.248437002C>T ENSP00000324687:p.Gly39Ser NA B2RNN0 hg19 CCDS31109.1 0.02 3.262405 TGCxAAA COVERED . . . . . . . . . . - 13.48 2.248585 0.39797 . . ENSG00000177212 ENST00000318021 T 0.00530 6.77 2.7 1.59 0.23543 GPCR, rhodopsin-like superfamily (1); 0.435769 0.16800 N 0.199012 T 0.00724 0.0024 M 0.81341 2.54 0.20489 N 0.999891 P 0.35307 0.494 B 0.36504 0.226 T 0.34825 -0.9813 10 0.49607 T 0.09 . 10.27 0.43477 0.1988:0.8012:0.0:0.0 . 39 Q8NG76 O2T33_HUMAN S 39 ENSP00000324687:G39S ENSP00000324687:G39S G - 1 0 OR2T33 246503625 0.003000 0.15002 0.087000 0.20705 0.236000 0.25371 1.373000 0.34272 1.437000 0.47472 0.494000 0.49563 GGC NOVEL OR2T33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097354.1 0 3.61141 KEEP 17 0 0 12 409 CC 0.992708 0.992708 0 - 5 25 169 0 0 9.773865 145 60 5214 210 ENST00000318021.2 0.033333 1 OR2T3 343173 __UNKNOWN__ __UNKNOWN__ 1 248637199 248637199 __UNKNOWN__ Missense_Mutation SNP T T C rs148748995 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr1:248637199T>C ENST00000359594.2 + 1 573 c.548T>C c.(547-549)tTc>tCc p.F183S NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 183 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGAGTTTTTTCTGTGAGACT 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 62 65 NA NA NA 1 NA NA 248637199 2162 4268 6430 SO:0001583 missense CCDS31117.1 1q44 2012-08-09 ENSG00000196539 ENSG00000196539 343173 GPCR / Class A : Olfactory receptors 14727 protein-coding gene gene with protein product NA NA Standard NM_001005495 NM_001005495 NA Approved uc001iel.1 Q8NH03 OTTHUMG00000040452 ENST00000359594.2:c.548T>C chr1.hg19:g.248637199T>C ENSP00000352604:p.Phe183Ser NA B2RNJ1 hg19 CCDS31117.1 0.02 16.00857 TTTxCTG COVERED . . . . . . . . . . t 12.97 2.095969 0.36952 . . ENSG00000196539 ENST00000359594 T 0.00258 8.41 2.37 0.564 0.17302 GPCR, rhodopsin-like superfamily (1); . . . . T 0.00552 0.0018 M 0.89095 3.005 0.22401 N 0.999132 D 0.89917 1.0 D 0.83275 0.996 T 0.43940 -0.9360 9 0.87932 D 0 . 6.6744 0.23085 0.2793:0.0:0.0:0.7207 . 183 Q8NH03 OR2T3_HUMAN S 183 ENSP00000352604:F183S ENSP00000352604:F183S F + 2 0 OR2T3 246703822 0.969000 0.33509 0.354000 0.25760 0.037000 0.13140 0.857000 0.27831 0.841000 0.35020 0.156000 0.16432 TTC NOVEL OR2T3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097348.1 4 2.606544 KEEP 308 1 32 20 579 TT 0.993634 0.993634 0 + 30 27 1013 1 0 68.296416 403 60 13990 892 ENST00000359594.2 0.069284 1 MYT1L 23040 __UNKNOWN__ __UNKNOWN__ 2 2299321 2299321 __UNKNOWN__ Intron SNP G G T rs12472469 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:2299321G>T ENST00000428368.2 - 2 150 MYT1L_ENST00000399161.2_Intron Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) gagagagagagagagagacag 0.507 NA NA g||| 3940 0.786741 0.6823 0.7205 5008 , , NA 29801 0.7976 NA 0.9652 False NA ,,, NA NA NA 2504 0.7802 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040 Zinc fingers, C2HC-type containing 7623 protein-coding gene gene with protein product neural zinc finger transcription factor 1 613084 NA 9373037 Standard NM_015025 XM_006711862 NA Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.521-11046C>A chr2.hg19:g.2299321G>T NA A7E2C7|B2RP54|Q6IQ17|Q9UPP6 hg19 CCDS46222.1 0.02 -0.245634 AGAxAGA COVERED NOVEL MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000377210.1 27 7.819975 KEEP 19 0 0 26 846 GG 0.999366 0.739203 0 - 4 60 130 0 0 12.499476 4 40 137 74 ENST00000428368.2 0.5 0.739671 COLEC11 78989 __UNKNOWN__ __UNKNOWN__ 2 3691331 3691331 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:3691331C>T ENST00000349077.4 + 7 542 c.439C>T c.(439-441)Cgc>Tgc p.R147C COLEC11_ENST00000404205.1_Missense_Mutation_p.R73C|COLEC11_ENST00000382062.2_Missense_Mutation_p.R123C|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000236693.7_Missense_Mutation_p.R144C|COLEC11_ENST00000403096.3_Missense_Mutation_p.R121C|COLEC11_ENST00000402922.1_Missense_Mutation_p.R97C|COLEC11_ENST00000418971.2_Missense_Mutation_p.R161C|COLEC11_ENST00000402794.1_Missense_Mutation_p.R97C NM_024027.4 NP_076932.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 147 NA developmental process (GO:0032502)|multicellular organismal development (GO:0007275) collagen trimer (GO:0005581)|extracellular region (GO:0005576) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CGCCGGTGTGCGCGAGACGGA 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 53 53 NA NA NA 2 NA NA 3691331 2202 4297 6499 SO:0001583 missense BC000078 CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1 2p25.3 2014-09-17 ENSG00000118004 ENSG00000118004 78989 Collectins 17213 protein-coding gene gene with protein product Collectin K1 612502 NA Standard NM_024027 NM_024027 NA Approved MGC3279, CL-K1 uc031rnn.1 Q9BWP8 OTTHUMG00000090304 ENST00000349077.4:c.439C>T chr2.hg19:g.3691331C>T ENSP00000339168:p.Arg147Cys NA A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1 hg19 CCDS1649.1 0.02 6.070378 GTGxGCG COVERED . . . . . . . . . . C 14.45 2.538470 0.45176 . . ENSG00000118004 ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922 T;T;D;D;D;D;T;D 0.93133 -0.38;3.34;-2.16;-2.31;-1.66;-3.17;3.2;-3.17 5.09 5.09 0.68999 C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1); 0.055071 0.64402 D 0.000001 D 0.95749 0.8617 L 0.55481 1.735 0.58432 D 0.999999 D;D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D;P;D 0.91635 0.998;0.949;0.949;0.995;0.949;0.999;0.931;0.855;0.978 D 0.96227 0.9165 10 0.72032 D 0.01 -17.9904 17.4767 0.87661 0.0:1.0:0.0:0.0 . 73;97;97;121;99;123;123;147;144 Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9 .;.;.;.;.;.;.;COL11_HUMAN;. C 123;144;147;161;121;97;73;97 ENSP00000371494:R123C;ENSP00000236693:R144C;ENSP00000339168:R147C;ENSP00000411770:R161C;ENSP00000385130:R121C;ENSP00000384882:R97C;ENSP00000385827:R73C;ENSP00000385653:R97C ENSP00000236693:R144C R + 1 0 COLEC11 3669206 1.000000 0.71417 0.999000 0.59377 0.009000 0.06853 5.911000 0.69939 2.351000 0.79841 0.467000 0.42956 CGC NOVEL COLEC11-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206666.1 2 3.310286 KEEP 0 0 0 11 359 CC 0.993072 0.993072 0 + 83 60 2654 0 0 257.151915 76 60 2635 191 ENST00000349077.4 0.522013 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 6636107 6636107 __UNKNOWN__ IGR SNP G G T rs112551650 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:6636107G>T NA NA AC105253.1 (120553 upstream) : AC021021.2 (27 downstream) NA NA NA GAAGTGCTTCGTTAAACTTCA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.6636107G>T NA hg19 0.02 3.916528 TTCxTTA COVERED NOVEL 0 0 3.912549 KEEP 0 0 0 13 439 GG 0.994391 0.99439 0 8 60 286 0 0 19.631854 113 60 3875 193 0.066116 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 20702345 20702345 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:20702345T>G NA NA AC012065.4 (1274 upstream) : RP11-130L8.2 (83662 downstream) NA NA NA agtttcaccatgttagccagg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.20702345T>G NA hg19 0.02 -0.070184 CCAxGTT UNCOVERED NOVEL 0 2 2.407084 KEEP 0 0 0 8 243 TT 0.99257 0.053735 0 2 60 78 0 0 6.800591 6 60 209 20 0.25 0.054137 GAREML 150946 __UNKNOWN__ __UNKNOWN__ 2 26405880 26405880 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:26405880G>C ENST00000407684.1 + 2 1823 c.67G>C c.(67-69)Gtg>Ctg p.V23L GAREML_ENST00000401533.2_Missense_Mutation_p.V100L NM_001191033.1 NP_001177962.1 Q75VX8 GAREL_HUMAN GRB2 associated, regulator of MAPK1-like 100 CABIT. NA extracellular vesicular exosome (GO:0070062) NA GCGGGAGCCAGTGAGGTACTT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 109 125 120 NA NA NA 2 NA NA 26405880 692 1591 2283 SO:0001583 missense AK090454, AB015349, AB124552 CCDS54336.1, CCDS54337.1 2p23.3 2012-11-30 2012-11-30 2012-11-30 ENSG00000157833 ENSG00000157833 150946 27172 protein-coding gene gene with protein product NA family with sequence similarity 59, member B FAM59B NA Standard NM_001168241 NM_001168241 NA Approved KIAA2038, FLJ00375 uc002rgw.2 Q75VX8 OTTHUMG00000151935 ENST00000407684.1:c.67G>C chr2.hg19:g.26405880G>C ENSP00000384581:p.Val23Leu NA B5MC97|B7WNK9|Q8NF27|Q9UIK8 hg19 CCDS54337.1 0.02 11.236194 CCAxTGA COVERED . . . . . . . . . . G 24.2 4.510581 0.85389 . . ENSG00000157833 ENST00000401533;ENST00000407684 T;T 0.30182 1.54;1.57 5.5 5.5 0.81552 . 0.084805 0.45126 D 0.000393 T 0.50565 0.1623 M 0.63428 1.95 0.44234 D 0.997072 D;P 0.57899 0.981;0.942 P;P 0.62435 0.871;0.902 T 0.39035 -0.9633 10 0.38643 T 0.18 -22.6671 16.8926 0.86091 0.0:0.0:1.0:0.0 . 23;100 B7WNK9;Q75VX8 .;FA59B_HUMAN L 100;23 ENSP00000384593:V100L;ENSP00000384581:V23L ENSP00000384593:V100L V + 1 0 FAM59B 26259384 1.000000 0.71417 0.995000 0.50966 0.991000 0.79684 6.337000 0.72958 2.588000 0.87417 0.462000 0.41574 GTG NOVEL GAREML-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000324499.1 1 18.959873 KEEP 0 0 0 63 2167 GG 1 1 0 + 78 60 2812 0 0 247.360288 196 60 7005 387 ENST00000407684.1 0.284672 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 27917906 27917906 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:27917906G>T NA NA SLC4A1AP (70 upstream) : AC074091.13 (10746 downstream) NA NA NA ctaggctggggtacagtggtg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.27917906G>T NA hg19 0.02 1.9619 GGGxTAC COVERED NOVEL 0 0 5.715813 KEEP 0 0 0 19 596 GG 0.99986 0.987804 0 21 60 729 0 0 66.04895 39 60 1400 81 0.35 0.987943 LCLAT1 253558 __UNKNOWN__ __UNKNOWN__ 2 30865991 30865991 __UNKNOWN__ 3'UTR SNP T T C rs114925184 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:30865991T>C ENST00000379509.3 + 0 3789 LCLAT1_ENST00000309052.4_3'UTR NM_001002257.1 NP_001002257.1 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 NA NA cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 CTCACCTCACTGCACCGCACC 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095284 CCDS1772.1, CCDS42670.1 2p23.1 2008-12-15 2008-12-15 2008-12-15 ENSG00000172954 ENSG00000172954 253558 26756 protein-coding gene gene with protein product 614241 lysocardiolipin acyltransferase LYCAT NA 18931347, 15152008, 16620771, 17675553 Standard NM_182551 NM_001002257 NA Approved FLJ37965, ALCAT1, AGPAT8 uc002rnl.3 Q6UWP7 OTTHUMG00000099349 ENST00000379509.3:c.*2506T>C chr2.hg19:g.30865991T>C NA A6H8Z7|Q8N1Q7 hg19 CCDS42670.1 0.02 11.52497 CACxGCA COVERED NOVEL LCLAT1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353432.1 1 21.097104 KEEP 5 1 31 81 2526 TT 1 1 0 + 24 27 823 0 0 56.748101 296 60 10431 500 ENST00000379509.3 0.075 1 NLRC4 58484 __UNKNOWN__ __UNKNOWN__ 2 32475455 32475455 __UNKNOWN__ Missense_Mutation SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:32475455T>G ENST00000404025.2 - 5 1966 c.1478A>C c.(1477-1479)tAc>tCc p.Y493S NLRC4_ENST00000402280.1_Missense_Mutation_p.Y493S|NLRC4_ENST00000360906.5_Missense_Mutation_p.Y493S|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 493 NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269) cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CCCACAGGTGTACCGGAGCAG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 68 65 66 NA NA NA 2 NA NA 32475455 2203 4300 6503 SO:0001583 missense AF376061 CCDS33174.1 2p22-p21 2008-08-27 2006-12-08 2006-12-08 ENSG00000091106 ENSG00000091106 58484 Nucleotide-binding domain and leucine rich repeat containing 16412 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4, NOD-like receptor C4 606831 caspase recruitment domain family, member 12 CARD12 NA 11374873 Standard NM_021209 NM_021209 NA Approved CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN uc021vfq.1 Q9NPP4 OTTHUMG00000152107 ENST00000404025.2:c.1478A>C chr2.hg19:g.32475455T>G ENSP00000385090:p.Tyr493Ser NA A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83 hg19 CCDS33174.1 0.02 15.30575 GTGxACC COVERED . . . . . . . . . . T 12.26 1.885969 0.33348 . . ENSG00000091106 ENST00000360906;ENST00000402280;ENST00000404025 T;T;T 0.10477 2.87;2.87;2.87 3.4 3.4 0.38934 . 0.000000 0.41500 D 0.000872 T 0.29093 0.0723 M 0.70275 2.135 0.33711 D 0.615763 D 0.71674 0.998 D 0.77557 0.99 T 0.44159 -0.9346 9 0.72032 D 0.01 . 11.2254 0.48880 0.0:0.0:0.0:1.0 . 493 Q9NPP4 NLRC4_HUMAN S 493 ENSP00000354159:Y493S;ENSP00000385428:Y493S;ENSP00000385090:Y493S ENSP00000354159:Y493S Y - 2 0 NLRC4 32328959 1.000000 0.71417 0.835000 0.33067 0.166000 0.22503 2.842000 0.48230 1.566000 0.49654 0.443000 0.29094 TAC NOVEL NLRC4-001 KNOWN non_canonical_other|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325222.2 3 6.618215 KEEP 0 0 0 22 643 TT 0.999879 0.999879 0 - 100 60 3460 0 0 300.804185 264 60 8426 429 ENST00000404025.2 0.274725 1 BIRC6 57448 __UNKNOWN__ __UNKNOWN__ 2 32749960 32749960 __UNKNOWN__ Missense_Mutation SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:32749960C>A ENST00000421745.2 + 58 11763 c.11629C>A c.(11629-11631)Cca>Aca p.P3877T NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3877 NA apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712) endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802) acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TACAGATACTCCAAGTATCAC 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(94;175 1509 16028 18060 45422) NA NA 0 21 22 22 NA NA NA 2 NA NA 32749960 2170 4256 6426 SO:0001583 missense AF265555 CCDS33175.2 2p22.3 2011-01-25 2011-01-25 ENSG00000115760 ENSG00000115760 57448 Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2 13516 protein-coding gene gene with protein product apollon 605638 baculoviral IAP repeat-containing 6 NA 10544019 Standard NM_016252 NM_016252 NA Approved BRUCE uc010ezu.3 Q9NR09 OTTHUMG00000150528 ENST00000421745.2:c.11629C>A chr2.hg19:g.32749960C>A ENSP00000393596:p.Pro3877Thr NA Q9ULD1 hg19 CCDS33175.2 0.02 1.716258 ACTxCAA COVERED . . . . . . . . . . C 20.9 4.065881 0.76187 . . ENSG00000115760 ENST00000421745 T 0.74106 -0.81 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 T 0.73369 0.3578 L 0.29908 0.895 0.80722 D 1 D 0.53885 0.963 P 0.50570 0.644 T 0.76091 -0.3086 10 0.52906 T 0.07 . 18.7755 0.91910 0.0:1.0:0.0:0.0 . 3877 Q9NR09 BIRC6_HUMAN T 3877 ENSP00000393596:P3877T ENSP00000393596:P3877T P + 1 0 BIRC6 32603464 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.410000 0.80065 2.491000 0.84063 0.655000 0.94253 CCA NOVEL BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318769.3 0 5.717692 KEEP 0 0 0 19 612 CC 0.99986 0.999628 0 + 22 60 721 0 0 63.350137 50 60 1770 122 ENST00000421745.2 0.305556 0.999768 NDUFAF7 55471 __UNKNOWN__ __UNKNOWN__ 2 37475976 37475976 __UNKNOWN__ 3'UTR SNP G G C rs4670679 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:37475976G>C ENST00000002125.4 + 0 1849 NDUFAF7_ENST00000336237.6_3'UTR NM_144736.4 NP_653337.1 Q7L592 NDUF7_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 NA NA methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981) extracellular space (GO:0005615)|mitochondrion (GO:0005739) enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168) NA agaatcacttgaacctgggag 0.488 NA NA G||| 2530 0.505192 0.2035 0.6859 5008 , , NA 16576 0.6905 NA 0.5517 False NA ,,, NA NA NA 2504 0.546 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1788.1, CCDS42673.1 2p22.2 2012-10-12 2012-10-12 2012-10-12 ENSG00000003509 ENSG00000003509 55471 Mitochondrial respiratory chain complex assembly factors 28816 protein-coding gene gene with protein product mitochondrial dysfunction protein A homolog 615898 chromosome 2 open reading frame 56 C2orf56 NA Standard NM_144736 NM_144736 NA Approved PRO1853, MidA uc002rqa.4 Q7L592 OTTHUMG00000128468 ENST00000002125.4:c.*483G>C chr2.hg19:g.37475976G>C NA Q7Z399|Q9P1G3 hg19 CCDS1788.1 0.02 -0.324566 CTTxAAC COVERED NOVEL NDUFAF7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250267.1 0 3.310401 KEEP 0 0 0 11 365 GG 0.993072 0.829926 0 + 7 60 240 0 0 19.5471 30 60 1046 50 ENST00000002125.4 0.189189 0.835716 DHX57 90957 __UNKNOWN__ __UNKNOWN__ 2 39083638 39083638 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:39083638A>T ENST00000295373.6 - 7 1714 NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 NA NA ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) CAGTTGGGTTACtttttcttt 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(191;1090 2095 4375 23729 47341) NA NA 0 44 44 44 NA NA NA 2 NA NA 39083638 2203 4300 6503 SO:0001627 intron_variant AF070590 CCDS1800.1 2p22.3 2008-02-05 ENSG00000163214 ENSG00000163214 90957 DEAH-boxes 20086 protein-coding gene gene with protein product NA NA Standard NM_145646 NM_198963 NA Approved DDX57 uc002rrf.3 Q6P158 OTTHUMG00000102103 ENST00000295373.6:c.1588-35T>A chr2.hg19:g.39083638A>T NA A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33 hg19 CCDS1800.1 0.02 -0.283128 GTTxCTT COVERED NOVEL DHX57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219940.2 2 3.59971 KEEP 0 0 0 12 294 AA 0.993634 0.992633 0 - 17 60 165 1 1 7.117323 60 60 1679 119 ENST00000295373.6 0.220779 0.998993 MTA3 57504 __UNKNOWN__ __UNKNOWN__ 2 42781029 42781029 __UNKNOWN__ Intron SNP A A G rs13388554|rs34426567|rs74179019|rs397869510 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:42781029A>G ENST00000405592.1 + 3 530 NM_001282755.1 NP_001269684.1 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 NA NA intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 aaaaaaaaagaaaaaaaaacg 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033092 CCDS46267.1, CCDS62900.1 2p22.1 2013-01-25 2004-12-15 ENSG00000057935 ENSG00000057935 57504 GATA zinc finger domain containing 23784 protein-coding gene gene with protein product 609050 metastasis associated gene family, member 3 NA 12705869, 14613024 Standard NM_020744 NM_001282755 NA Approved KIAA1266 uc002rsq.3 Q9BTC8 OTTHUMG00000150452 ENST00000405592.1:c.-140-16548A>G chr2.hg19:g.42781029A>G NA Q9NSP2|Q9ULF4 hg19 0.02 -0.035088 AAGxAAA UNCOVERED NOVEL MTA3-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000318147.1 2 2.629176 KEEP 1 0 0 9 210 AA 0.99257 0.019833 0 + 2 60 65 2 0 6.624408 1 60 34 24 ENST00000405592.1 0.666667 0.019982 THADA 63892 __UNKNOWN__ __UNKNOWN__ 2 43394294 43394294 __UNKNOWN__ Intron SNP G G A rs201289481 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:43394294G>A ENST00000330266.7 - 20 3188 Q6YHU6 THADA_HUMAN thyroid adenoma associated NA NA breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) aaagaaagaaggaaagaaaga 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY149629 CCDS46268.1, CCDS62901.1, CCDS62902.1 2p21 2008-02-05 ENSG00000115970 ENSG00000115970 63892 19217 protein-coding gene gene with protein product 611800 NA 12063398, 11214970 Standard NM_022065 NM_022065 NA Approved FLJ21877, KIAA1767, GITA uc002rsx.4 Q6YHU6 OTTHUMG00000152398 ENST00000330266.7:c.3189-389C>T chr2.hg19:g.43394294G>A NA A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7 hg19 0.02 -0.070168 GAAxGAA UNCOVERED NOVEL THADA-201 KNOWN basic protein_coding NA protein_coding 5 2.708793 KEEP 0 0 0 9 312 GG 0.99254 0.053733 0 - 2 60 73 0 0 6.300849 6 60 206 18 ENST00000330266.7 0.25 0.054137 RP11-761B3.1 0 __UNKNOWN__ __UNKNOWN__ 2 47356921 47356921 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:47356921A>G ENST00000422269.1 - 6 540 C2orf61_ENST00000445927.2_Intron|C2orf61_ENST00000294947.2_3'UTR NA NA NA gttcttacagaggtgttttct 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000422269.1:c.128+158T>C chr2.hg19:g.47356921A>G NA hg19 0.02 17.768485 CAGxGGT COVERED NOVEL RP11-761B3.1-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000471753.1 1 9.026726 KEEP 0 0 0 30 938 AA 0.999997 0.999997 0 - 247 60 8392 0 0 830.994448 179 60 6016 519 ENST00000422269.1 0.579812 1 STON1-GTF2A1L 286749 __UNKNOWN__ __UNKNOWN__ 2 48847972 48847972 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:48847972A>C ENST00000394754.1 + 4 2247 GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000309827.2_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Intron|GTF2A1L_ENST00000403751.3_Intron|GTF2A1L_ENST00000468326.1_Intron NM_172311.2 NP_758515.1 STON1-GTF2A1L readthrough NA NA NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGAAACTTTAACAATTGCTTT 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 27 28 27 NA NA NA 2 NA NA 48847972 2202 4295 6497 SO:0001627 intron_variant AF026169 CCDS1840.1, CCDS56118.1, CCDS56119.1 2p16.3 2009-09-17 ENSG00000068781 ENSG00000068781 286749 30651 other readthrough stoned B/TFIIA alpha/beta like factor NA NA 10364255, 11159353 Standard NM_172311 NA Approved SALF uc010yol.2 OTTHUMG00000152037 ENST00000394754.1:c.2134-18A>C chr2.hg19:g.48847972A>C NA hg19 CCDS1840.1 0.02 1.997187 TTAxCAA COVERED NOVEL STON1-GTF2A1L-002 KNOWN alternative_5_UTR|basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000251241.1 0 2.707027 KEEP 0 0 0 9 255 AA 0.99254 0.972219 0 + 15 60 518 0 0 44.964991 40 60 1309 67 ENST00000394754.1 0.272727 0.979526 EML6 400954 __UNKNOWN__ __UNKNOWN__ 2 55181042 55181042 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:55181042C>T ENST00000356458.6 + 31 4832 NM_001039753.2 NP_001034842.2 Q6ZMW3 EMAL6_HUMAN echinoderm microtubule associated protein like 6 NA NA cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(1)|endometrium(6) 7 aaaaaaaaGGCTTTTACATGA 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46286.1 2p16.1 2013-01-10 ENSG00000214595 ENSG00000214595 400954 WD repeat domain containing 35412 protein-coding gene gene with protein product NA NA Standard XM_001725002 NM_001039753 NA Approved FLJ42562 uc002ryb.4 Q6ZMW3 OTTHUMG00000152035 ENST00000356458.6:c.4313-78C>T chr2.hg19:g.55181042C>T NA A8MUB5|B6ZDG7 hg19 CCDS46286.1 0.02 1.969154 AGGxTTT COVERED NOVEL EML6-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000324997.3 5 2.995424 KEEP 0 3 54 30 915 CC 0.999998 0.999998 0 + 13 60 299 0 0 18.269246 109 70 3242 224 ENST00000356458.6 0.106557 1 PLEK 5341 __UNKNOWN__ __UNKNOWN__ 2 68592646 68592646 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:68592646T>C ENST00000234313.7 + 1 221 AC015969.3_ENST00000366218.2_RNA NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin NA NA actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587) phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080) autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) TGGGTTGAAATAGGGGAGCGT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X07743 CCDS1887.1 2p13.3 2013-01-10 ENSG00000115956 ENSG00000115956 5341 Pleckstrin homology (PH) domain containing 9070 protein-coding gene gene with protein product 173570 NA 2897630, 12054651 Standard NM_002664 NM_002664 NA Approved P47 uc002sen.4 P08567 OTTHUMG00000129562 ENST00000234313.7:c.42+121T>C chr2.hg19:g.68592646T>C NA B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81 hg19 CCDS1887.1 0.02 4.620281 AAAxAGG COVERED NOVEL PLEK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251755.1 1 3.300581 KEEP 0 0 0 11 325 TT 0.993072 0.993064 0 + 54 60 1886 0 0 182.182481 53 60 1673 132 ENST00000234313.7 0.504673 0.999992 PLEK 5341 __UNKNOWN__ __UNKNOWN__ 2 68622856 68622856 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:68622856G>A ENST00000234313.7 + 9 1140 c.961G>A c.(961-963)Gat>Aat p.D321N NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 321 PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587) phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080) autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CATCACAGCAGATGAAGTGCA 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 156 140 146 NA NA NA 2 NA NA 68622856 2203 4300 6503 SO:0001583 missense X07743 CCDS1887.1 2p13.3 2013-01-10 ENSG00000115956 ENSG00000115956 5341 Pleckstrin homology (PH) domain containing 9070 protein-coding gene gene with protein product 173570 NA 2897630, 12054651 Standard NM_002664 NM_002664 NA Approved P47 uc002sen.4 P08567 OTTHUMG00000129562 ENST00000234313.7:c.961G>A chr2.hg19:g.68622856G>A ENSP00000234313:p.Asp321Asn NA B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81 hg19 CCDS1887.1 0.02 10.886769 GCAxATG COVERED . . . . . . . . . . G 15.63 2.890965 0.52014 . . ENSG00000115956 ENST00000234313 T 0.31769 1.48 5.65 2.45 0.29901 Pleckstrin homology-type (1);Pleckstrin homology domain (3); 0.475435 0.26507 N 0.024000 T 0.16896 0.0406 L 0.33339 1.005 0.28221 N 0.926522 B 0.02656 0.0 B 0.08055 0.003 T 0.11421 -1.0588 10 0.36615 T 0.2 . 0.3187 0.00300 0.2729:0.2051:0.3127:0.2094 . 321 P08567 PLEK_HUMAN N 321 ENSP00000234313:D321N ENSP00000234313:D321N D + 1 0 PLEK 68476360 0.929000 0.31497 0.788000 0.31933 0.996000 0.88848 2.615000 0.46368 0.734000 0.32515 0.561000 0.74099 GAT NOVEL PLEK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251755.1 1 6.320343 KEEP 0 0 0 21 732 GG 0.999869 0.999869 0 + 74 60 2586 0 0 222.380372 216 60 7908 395 ENST00000234313.7 0.255172 1 DCTN1 1639 __UNKNOWN__ __UNKNOWN__ 2 74600075 74600075 __UNKNOWN__ Splice_Site SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:74600075T>C ENST00000361874.3 - 7 750 c.433A>G c.(433-435)Acc>Gcc p.T145A DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000409868.1_Splice_Site_p.T128A|DCTN1_ENST00000409567.3_Intron|DCTN1_ENST00000394003.3_Splice_Site_p.T138A|DCTN1_ENST00000409438.1_Splice_Site_p.T11A|DCTN1_ENST00000407639.2_Splice_Site_p.T11A NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 145 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399) cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922) motor activity (GO:0003774) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CGAGTTGTGGTCTGGACAGGC 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 108 97 100 NA NA NA 2 NA NA 74600075 2203 4300 6503 SO:0001630 splice_region_variant CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1 2p13 2014-09-17 2010-06-24 ENSG00000204843 ENSG00000204843 1639 2711 protein-coding gene gene with protein product p150 glued homolog (Drosophila) 601143 dynactin 1 (p150, Glued (Drosophila) homolog) NA 1828535 Standard NM_004082 NM_001190836 NA Approved uc002skx.3 Q14203 OTTHUMG00000129963 ENST00000361874.3:c.433-1A>G chr2.hg19:g.74600075T>C NA A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2 hg19 CCDS1939.1 0.02 8.783666 TGGxCTG COVERED . . . . . . . . . . T 8.971 0.972892 0.18736 . . ENSG00000204843 ENST00000361874;ENST00000394003;ENST00000407639;ENST00000409438;ENST00000409868;ENST00000458655 T;T;T;T;T;T 0.74737 -0.69;-0.87;-0.62;-0.62;-0.86;-0.54 5.07 5.07 0.68467 . . . . . T 0.54951 0.1890 N 0.14661 0.345 0.48040 D 0.999573 B;B;P;P 0.35872 0.39;0.0;0.525;0.525 B;B;B;B 0.32980 0.074;0.0;0.156;0.111 T 0.55717 -0.8097 9 0.11794 T 0.64 . 14.2566 0.66055 0.0:0.0:0.0:1.0 . 145;138;11;11 Q14203;A8MY36;Q14203-2;G5E9H4 DCTN1_HUMAN;.;.;. A 145;138;11;11;128;152 ENSP00000354791:T145A;ENSP00000377571:T138A;ENSP00000384844:T11A;ENSP00000387270:T11A;ENSP00000387327:T128A;ENSP00000414315:T152A ENSP00000354791:T145A T - 1 0 DCTN1 74453583 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.069000 0.71209 2.261000 0.74972 0.459000 0.35465 ACC NOVEL DCTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252227.3 0 9.929172 KEEP 0 0 0 33 1043 TT 0.999998 0.999998 0 Missense_Mutation - 49 60 1689 0 0 142.51947 163 60 5474 305 ENST00000361874.3 0.231132 1 REG1P 5969 __UNKNOWN__ __UNKNOWN__ 2 79364397 79364397 __UNKNOWN__ RNA SNP G G A rs3819317 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:79364397G>A ENST00000444841.1 - 0 237 regenerating islet-derived 1 pseudogene NA NA NA TAGTAGCAGTGGGAGCCTTAG 0.542 NA NA A||| 594 0.11861 0.034 0.1585 5008 , , NA 18692 0.1925 NA 0.1491 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 2p12 2008-06-04 2008-06-04 2008-06-04 ENSG00000204787 ENSG00000204787 5969 9953 pseudogene pseudogene NA rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like), regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat) REGL NA 8333731 Standard NR_002714 NR_002714 NA Approved RS uc002soc.1 OTTHUMG00000152978 ENST00000444841.1: chr2.hg19:g.79364397G>A NA hg19 0.02 1.933283 AGTxGGA COVERED NOVEL REG1P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000328851.1 0 2.407812 KEEP 0 0 0 8 279 GG 0.99257 0.99225 0 - 26 60 923 0 0 82.460243 56 60 2036 115 ENST00000444841.1 0.317073 0.999678 RETSAT 54884 __UNKNOWN__ __UNKNOWN__ 2 85570849 85570849 __UNKNOWN__ Missense_Mutation SNP C C T rs4832168 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:85570849C>T ENST00000295802.4 - 10 1718 c.1606G>A c.(1606-1608)Ggg>Agg p.G536R RETSAT_ENST00000263854.6_Missense_Mutation_p.R480Q|RETSAT_ENST00000457495.2_Missense_Mutation_p.G475R|RETSAT_ENST00000475624.2_5'UTR NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 536 NA G -> R (in dbSNP:rs4832168). oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572) endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640) all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) TGGTCAGCCCCGTAGCAGGCA 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 45 47 47 NA NA NA 2 NA NA 85570849 2203 4300 6503 SO:0001583 missense AK075261 CCDS1972.1 2p11.2 2008-02-05 ENSG00000042445 ENSG00000042445 54884 1.3.99.23 25991 protein-coding gene gene with protein product NA NA 12975309, 15358783 Standard NM_017750 NM_017750 NA Approved FLJ20296 uc002spd.3 Q6NUM9 OTTHUMG00000154611 ENST00000295802.4:c.1606G>A chr2.hg19:g.85570849C>T ENSP00000295802:p.Gly536Arg NA A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5 hg19 CCDS1972.1 0.02 8.110542 CCCxGTA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 19.42|19.42 3.824131|3.824131 0.71143|0.71143 .|. .|. ENSG00000042445|ENSG00000042445 ENST00000295802;ENST00000457495|ENST00000263854 T;T|. 0.57273|. 0.41;0.41|. 5.02|5.02 4.13|4.13 0.48395|0.48395 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.81322|0.81322 0.4798|0.4798 M|M 0.92604|0.92604 3.325|3.325 0.43467|0.43467 P|P 0.004322999999999966|0.004322999999999966 D;D;D|. 0.89917|. 1.0;1.0;1.0|. D;D;D|. 0.91635|. 0.999;0.999;0.998|. D|D 0.88450|0.88450 0.3048|0.3048 9|5 0.87932|0.87932 D|D 0|0 -20.6594|-20.6594 13.4883|13.4883 0.61379|0.61379 0.0:0.8417:0.1583:0.0|0.0:0.8417:0.1583:0.0 rs4832168;rs13011440;rs57883711|rs4832168;rs13011440;rs57883711 475;475;536|. G5E9N3;B4DKE1;Q6NUM9|. .;.;RETST_HUMAN|. R|Q 536;475|480 ENSP00000295802:G536R;ENSP00000405040:G475R|. ENSP00000295802:G536R|ENSP00000263854:R480Q G|R -|- 1|2 0|0 RETSAT|RETSAT 85424360|85424360 0.934000|0.934000 0.31675|0.31675 0.996000|0.996000 0.52242|0.52242 0.483000|0.483000 0.33249|0.33249 3.819000|3.819000 0.55686|0.55686 1.226000|1.226000 0.43582|0.43582 -0.305000|-0.305000 0.09177|0.09177 GGG|CGG NOVEL RETSAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252489.1 2 5.644917 KEEP 0 1 32 30 970 CC 0.999997 0.999997 0 - 12 60 411 0 0 26.44888 220 60 6934 312 ENST00000295802.4 0.051724 1 RETSAT 54884 __UNKNOWN__ __UNKNOWN__ 2 85570857 85570857 __UNKNOWN__ Missense_Mutation SNP G G A rs4832169 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:85570857G>A ENST00000295802.4 - 10 1710 c.1598C>T c.(1597-1599)gCc>gTc p.A533V RETSAT_ENST00000263854.6_Silent_p.C477C|RETSAT_ENST00000457495.2_Missense_Mutation_p.A472V|RETSAT_ENST00000475624.2_5'UTR NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 533 NA A -> V (in dbSNP:rs4832169). oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572) endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640) all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) CCCGTAGCAGGCACCTCGGGG 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 45 47 46 NA NA NA 2 NA NA 85570857 2203 4300 6503 SO:0001583 missense AK075261 CCDS1972.1 2p11.2 2008-02-05 ENSG00000042445 ENSG00000042445 54884 1.3.99.23 25991 protein-coding gene gene with protein product NA NA 12975309, 15358783 Standard NM_017750 NM_017750 NA Approved FLJ20296 uc002spd.3 Q6NUM9 OTTHUMG00000154611 ENST00000295802.4:c.1598C>T chr2.hg19:g.85570857G>A ENSP00000295802:p.Ala533Val NA A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5 hg19 CCDS1972.1 0.02 7.391748 CAGxCAC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 18.31|18.31 3.596672|3.596672 0.66332|0.66332 .|. .|. ENSG00000042445|ENSG00000042445 ENST00000295802;ENST00000457495|ENST00000449375 T;T|. 0.25250|. 1.84;1.81|. 5.02|5.02 4.0|4.0 0.46444|0.46444 .|. 0.122893|. 0.52532|. D|. 0.000064|. T|T 0.60971|0.60971 0.2310|0.2310 M|M 0.71581|0.71581 2.175|2.175 0.09310|0.09310 P|P 1.0|1.0 P;P;P|. 0.44659|. 0.534;0.534;0.84|. B;B;B|. 0.41374|. 0.355;0.355;0.288|. T|T 0.70081|0.70081 -0.4970|-0.4970 9|4 0.49607|. T|. 0.09|. -11.1835|-11.1835 9.7757|9.7757 0.40618|0.40618 0.0:0.0:0.6602:0.3397|0.0:0.0:0.6602:0.3397 rs4832169;rs12988064;rs4832169|rs4832169;rs12988064;rs4832169 472;472;533|. G5E9N3;B4DKE1;Q6NUM9|. .;.;RETST_HUMAN|. V|S 533;472|322 ENSP00000295802:A533V;ENSP00000405040:A472V|. ENSP00000295802:A533V|. A|P -|- 2|1 0|0 RETSAT|RETSAT 85424368|85424368 1.000000|1.000000 0.71417|0.71417 0.913000|0.913000 0.36048|0.36048 0.496000|0.496000 0.33645|0.33645 4.580000|4.580000 0.60942|0.60942 2.492000|2.492000 0.84095|0.84095 0.561000|0.561000 0.74099|0.74099 GCC|CCT NOVEL RETSAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252489.1 2 4.349467 KEEP 0 1 33 26 910 GG 0.999988 0.999988 0 - 17 60 569 0 0 38.898804 207 60 7209 296 ENST00000295802.4 0.075893 1 IMMT 10989 __UNKNOWN__ __UNKNOWN__ 2 86381299 86381299 __UNKNOWN__ Intron SNP C C T rs564650860 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:86381299C>T ENST00000410111.3 - 11 1550 IMMT_ENST00000254636.5_Intron|IMMT_ENST00000449247.2_Intron|IMMT_ENST00000442664.2_Intron|IMMT_ENST00000409051.2_Intron NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 MIC60_HUMAN inner membrane protein, mitochondrial NA NA mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTAAACAtttctttttttttt 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D21094 CCDS46355.1, CCDS46356.1, CCDS46357.1 2p11.2 2011-10-04 2010-04-29 ENSG00000132305 ENSG00000132305 10989 6047 protein-coding gene gene with protein product mitofilin, mitochondrial inner membrane organizing system 2 600378 inner membrane protein, mitochondrial (mitofilin) NA 9168817, 8039717 Standard NM_006839 NM_001100169 NA Approved P87, P89, HMP, MINOS2 uc002sqz.4 Q16891 OTTHUMG00000153170 ENST00000410111.3:c.1163-602G>A chr2.hg19:g.86381299C>T NA B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2 hg19 CCDS46355.1 0.02 -0.052634 TTTxTTT UNCOVERED NOVEL IMMT-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000329909.2 4 3.309318 KEEP 0 0 0 11 367 CC 0.993072 0.036511 0 - 2 60 73 1 2 6.792956 3 60 99 24 ENST00000410111.3 0.4 0.036766 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 89495537 89495537 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:89495537G>A NA NA IGKV2-24 (18893 upstream) : IGKV1-27 (17370 downstream) NA NA NA AAGCAGAGAGGTTTGTGCTCA 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.89495537G>A NA hg19 0.02 3.862986 GAGxTTT COVERED NOVEL 0 2 4.213735 KEEP 24 0 0 14 490 GG 0.99254 0.99254 0 63 49 2149 0 0 206.680649 64 50 2245 194 0.496063 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 89865446 89865446 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:89865446A>T NA NA IGKV2-40 (235260 upstream) : IGKV2D-40 (25549 downstream) NA NA NA attccattccattccattcca 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.89865446A>T NA hg19 0.02 -0.403538 TCCxTTC COVERED NOVEL 0 26 4.513526 KEEP 20 0 0 15 463 AA 0.993072 0.928018 0 2 24 76 0 0 7.092863 3 60 103 99 0.4 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90458792 90458792 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:90458792G>C NA NA CH17-132F21.1 (121 upstream) : RP11-685N3.1 (79046 downstream) NA NA NA GTCAGGTTTGGAAAGTCATTG 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.90458792G>C NA hg19 0.02 6.31936 TTGxAAA UNCOVERED NOVEL 0 1 3.009557 KEEP 114 0 0 10 342 GG 0 0 0 25 27 909 0 0 70.178532 174 27 6058 355 0.125628 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91766893 91766893 __UNKNOWN__ IGR SNP C C T rs56152219 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91766893C>T NA NA None (None upstream) : RP11-575H3.1 (1499 downstream) NA NA NA gcagccttgaccacctggggg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91766893C>T NA hg19 0.02 4.137757 TGAxCAC COVERED NOVEL 0 9 2.708857 KEEP 0 0 0 9 317 CC 0.99254 0.992529 0 13 60 441 0 0 33.407964 89 60 3009 129 0.127451 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91771677 91771677 __UNKNOWN__ IGR SNP C C T rs2936283 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91771677C>T NA NA RP11-575H3.1 (2757 upstream) : AC027612.6 (33508 downstream) NA NA NA aaacctggacctcccaggctc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91771677C>T NA hg19 0.02 -0.227363 GACxTCC COVERED NOVEL 0 7 2.943015 KEEP 0 1 23 18 635 CC 0.99986 0.582848 0 6 60 227 0 0 19.473968 20 60 697 66 0.230769 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91777902 91777902 __UNKNOWN__ IGR SNP C C T rs2647769 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91777902C>T NA NA RP11-575H3.1 (8982 upstream) : AC027612.6 (27283 downstream) NA NA NA GCCTCTTCCGCCTCAAGGACA 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91777902C>T NA hg19 0.02 5.615724 CCGxCTC COVERED NOVEL 0 0 3.310754 KEEP 0 0 0 11 384 CC 0.993072 0.993072 0 23 60 753 0 0 58.515312 125 60 4361 191 0.155405 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91800832 91800832 __UNKNOWN__ IGR SNP C C T rs1640041 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91800832C>T NA NA RP11-575H3.1 (31912 upstream) : AC027612.6 (4353 downstream) NA NA NA CAACACCATGCCCCTTGCTTC 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91800832C>T NA hg19 0.02 30.545 ATGxCCC COVERED NOVEL 0 4 9.966006 KEEP 1 2 56 53 1794 CC 1 1 0 97 60 3182 0 0 234.649035 732 60 25312 973 0.117008 1 AC027612.6 0 __UNKNOWN__ __UNKNOWN__ 2 91805319 91805319 __UNKNOWN__ RNA SNP C C T rs232173|rs386648319 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91805319C>T ENST00000609777.1 - 0 1060 NA NA NA aggttattctcatctggcaaa 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000609777.1: chr2.hg19:g.91805319C>T NA hg19 0.02 1.66397 TCTxATC COVERED NOVEL AC027612.6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000471986.1 0 3.008852 KEEP 0 0 0 10 311 CC 0.992708 0.992627 0 - 11 60 380 0 0 28.796797 78 60 2782 123 ENST00000609777.1 0.123596 0.999919 AC027612.3 0 __UNKNOWN__ __UNKNOWN__ 2 91895981 91895981 __UNKNOWN__ RNA SNP A A G rs113716854 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91895981A>G ENST00000436174.1 - 0 168 NA NA NA caccatgcccagctaattttt 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000436174.1: chr2.hg19:g.91895981A>G NA hg19 0.02 -0.096486 CCCxGCT UNCOVERED NOVEL AC027612.3-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000338339.1 4 3.610443 KEEP 1 0 0 12 368 AA 0.993072 0.119602 0 - 5 40 150 0 0 14.092303 6 50 214 27 ENST00000436174.1 0.454545 0.120436 AC027612.3 0 __UNKNOWN__ __UNKNOWN__ 2 91898217 91898217 __UNKNOWN__ RNA SNP C C T rs368448114 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91898217C>T ENST00000436174.1 - 0 168 NA NA NA atcccagctacccagggggct 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000436174.1: chr2.hg19:g.91898217C>T NA hg19 0.02 -0.070181 CTAxCCA UNCOVERED NOVEL AC027612.3-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000338339.1 5 2.706667 KEEP 4 0 0 9 284 CC 0 0 0 - 2 21 72 2 0 6.495736 4 40 135 20 ENST00000436174.1 0.333333 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91901769 91901769 __UNKNOWN__ IGR SNP T T C rs200555083 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91901769T>C NA NA AC027612.3 (1633 upstream) : AC027612.2 (50181 downstream) NA NA NA TGTTATTAAATTGGTATAAAA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91901769T>C NA hg19 0.02 -0.166375 AAAxTGG COVERED NOVEL 0 4 3.611057 KEEP 0 0 0 12 381 TT 0.993634 0.351693 0 2 27 78 0 0 6.492672 9 60 275 40 0.181818 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91905230 91905230 __UNKNOWN__ IGR SNP C C T rs79320272 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91905230C>T NA NA AC027612.3 (5094 upstream) : AC027612.2 (46720 downstream) NA NA NA tcaagcaattctcttgcctca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91905230C>T NA hg19 0.02 -0.08773 ATTxTCT UNCOVERED NOVEL 0 6 3.611721 KEEP 3 0 0 12 421 CC 0.992708 0.098994 0 3 57 103 0 0 9.078376 7 60 256 29 0.3 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91915908 91915908 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91915908C>T NA NA AC027612.3 (15772 upstream) : AC027612.2 (36042 downstream) NA NA NA cattctcaacctgctaggctc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91915908C>T NA hg19 0.02 -0.175457 AACxTGC UNCOVERED NOVEL 0 8 5.107057 KEEP 29 0 0 17 571 CC 0 0 0 4 25 142 0 0 11.762456 16 25 561 61 0.2 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91915945 91915945 __UNKNOWN__ IGR SNP G G A rs62143775 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91915945G>A NA NA AC027612.3 (15809 upstream) : AC027612.2 (36005 downstream) NA NA NA tcagcctcccgaatagctggg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91915945G>A NA hg19 0.02 -0.289458 CCCxAAT COVERED NOVEL 0 5 2.54117 KEEP 20 1 27 18 576 GG 0.99254 0.755211 0 7 25 242 0 0 20.462765 23 27 735 66 0.233333 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91935064 91935064 __UNKNOWN__ IGR SNP G G A rs74968405 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91935064G>A NA NA AC027612.3 (34928 upstream) : AC027612.2 (16886 downstream) NA NA NA TTTATTTTTGGTTAGAGTACC 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91935064G>A NA hg19 0.02 4.743554 TTGxTTA COVERED NOVEL 0 1 2.708474 KEEP 1 0 0 9 296 GG 0.99254 0.99254 0 9 60 262 0 0 15.484277 154 60 5235 205 0.055215 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91936312 91936312 __UNKNOWN__ IGR SNP C C G rs62145879 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91936312C>G NA NA AC027612.3 (36176 upstream) : AC027612.2 (15638 downstream) NA NA NA AAAGGCACCCCGGGAGAAATG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91936312C>G NA hg19 0.02 9.052794 CCCxGGG COVERED NOVEL 0 0 2.708436 KEEP 0 0 0 9 296 CC 0.99254 0.99254 0 55 60 1737 0 1 158.139179 90 60 2874 238 0.37931 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91987121 91987121 __UNKNOWN__ IGR SNP G G A rs369266809 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:91987121G>A NA NA AC027612.2 (35077 upstream) : SLC9B1P2 (93376 downstream) NA NA NA aggaaagaaagcaagaacgtg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91987121G>A NA hg19 0.02 -0.070181 AAAxCAA UNCOVERED NOVEL 0 3 2.40787 KEEP 8 0 0 8 283 GG 0 0 0 3 28 98 0 0 9.424812 3 49 104 23 0.5 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92186799 92186799 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92186799G>A NA NA SLC9B1P2 (84561 upstream) : None (None downstream) NA NA NA AGGTCATGAAGGGGGCTGATG 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92186799G>A NA hg19 0.02 4.188522 GAAxGGG COVERED NOVEL 0 0 6.320538 KEEP 7 0 0 21 739 GG 0.999863 0.999862 0 12 40 413 0 0 30.422649 101 60 3617 184 0.106195 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92186801 92186801 __UNKNOWN__ IGR SNP G G T rs74328916 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92186801G>T NA NA SLC9B1P2 (84563 upstream) : None (None downstream) NA NA NA GTCATGAAGGGGGCTGATGAC 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92186801G>T NA hg19 0.02 4.061837 AGGxGGC COVERED NOVEL 0 0 3.944934 KEEP 8 1 25 22 743 GG 0.999869 0.999869 0 13 40 439 0 0 32.434562 103 60 3569 194 0.112069 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92186923 92186923 __UNKNOWN__ IGR SNP A A G rs9710692 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92186923A>G NA NA SLC9B1P2 (84685 upstream) : None (None downstream) NA NA NA AAAAAGTTTTATTAAAAGATT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92186923A>G NA hg19 0.02 2.01241 TTTxTTA UNCOVERED NOVEL 0 0 2.406721 KEEP 13 0 0 8 232 AA 0 0 0 23 40 783 0 0 68.878093 54 40 1910 98 0.298701 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92307254 92307254 __UNKNOWN__ IGR SNP C C T rs76701271 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92307254C>T NA NA SLC9B1P2 (205016 upstream) : None (None downstream) NA NA NA atttggagcgctctcaggact 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92307254C>T NA hg19 0.02 8.857513 GCGxTCT COVERED NOVEL 0 12 7.18872 KEEP 149 2 66 47 1619 CC 0.999997 0.999997 0 8 47 260 0 0 21.126058 32 47 1111 498 0.2 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92308687 92308687 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92308687G>C NA NA SLC9B1P2 (206449 upstream) : None (None downstream) NA NA NA aaacttatttgtgatgtgcgc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92308687G>C NA hg19 0.02 -0.377239 TTTxTGA UNCOVERED NOVEL 0 8 4.815372 KEEP 34 0 0 16 542 GG 0 0 0 3 27 110 0 0 9.171759 12 40 427 89 0.2 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92308696 92308696 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92308696G>C NA NA SLC9B1P2 (206458 upstream) : None (None downstream) NA NA NA tgtgatgtgcgccctcaacta 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92308696G>C NA hg19 0.02 -0.201751 TGCxCCC UNCOVERED NOVEL 0 5 2.707946 KEEP 18 0 0 9 282 AG 0 0 0 5 27 158 0 0 14.42335 8 52 273 53 0.384615 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92312939 92312939 __UNKNOWN__ IGR SNP G G C rs147349519 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92312939G>C NA NA SLC9B1P2 (210701 upstream) : None (None downstream) NA NA NA tgtgatgtgcgccctcaacta 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92312939G>C NA hg19 0.02 1.754963 TGCxCCC COVERED NOVEL 0 13 8.993309 KEEP 23 0 0 30 941 GG 0.999909 0.999849 0 4 47 147 0 0 10.030856 63 49 1984 178 0.059701 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92318621 92318621 __UNKNOWN__ IGR SNP A A G rs28838929 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92318621A>G NA NA SLC9B1P2 (216383 upstream) : None (None downstream) NA NA NA gcaagtggatatttgtctagc 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92318621A>G NA hg19 0.02 -0.40352 GATxTTT COVERED NOVEL 0 17 5.71658 KEEP 23 0 0 19 574 AA 0.994391 0.92925 0 4 48 146 0 0 11.456597 25 60 814 98 0.137931 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92318656 92318656 __UNKNOWN__ IGR SNP A A T rs4266949 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92318656A>T NA NA SLC9B1P2 (216418 upstream) : None (None downstream) NA NA NA tggaaacgggattacatataa 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92318656A>T NA hg19 0.02 1.948349 GGGxTTA COVERED NOVEL 0 23 2.239873 KEEP 17 1 36 20 596 AA 0.999366 0.997265 0 4 60 144 0 0 9.961012 55 60 1850 141 0.067797 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92318902 92318902 __UNKNOWN__ IGR SNP G G C rs11491313 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92318902G>C NA NA SLC9B1P2 (216664 upstream) : None (None downstream) NA NA NA cagtgttgaagctttcttttg 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92318902G>C NA hg19 0.02 4.0794 GAAxCTT COVERED NOVEL 0 20 9.80278 KEEP 174 2 67 56 1971 GG 0.997832 0.997831 0 5 40 178 0 0 11.297529 108 40 4006 434 0.044248 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92318944 92318944 __UNKNOWN__ IGR SNP A A T rs4023891 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92318944A>T NA NA SLC9B1P2 (216706 upstream) : None (None downstream) NA NA NA ctttttgtaaaatctgcaaga 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92318944A>T NA hg19 0.02 3.871134 TAAxATC COVERED NOVEL 0 17 5.617304 KEEP 159 3 98 53 1609 AA 0.999366 0.999366 0 21 40 719 0 0 58.540442 90 40 3155 374 0.189189 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92320435 92320435 __UNKNOWN__ IGR SNP T T G rs4393208 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92320435T>G NA NA SLC9B1P2 (218197 upstream) : None (None downstream) NA NA NA gtgttgaacattccctttcat 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92320435T>G NA hg19 0.02 24.844159 ACAxTCC COVERED NOVEL 0 97 7.98685 KEEP 138 5 176 88 2755 TT 1 1 0 15 40 572 0 0 45.526774 92 60 3173 1138 0.140187 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92320994 92320994 __UNKNOWN__ IGR SNP C C G rs142914746 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92320994C>G NA NA SLC9B1P2 (218756 upstream) : None (None downstream) NA NA NA gtggaatctgcaagtggatat 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92320994C>G NA hg19 0.02 -0.411653 CTGxAAG COVERED NOVEL 0 11 8.426676 KEEP 45 0 0 28 964 CC 0.99649 0.951141 0 5 40 145 0 0 11.476963 20 44 655 139 0.2 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92323258 92323258 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92323258A>T NA NA SLC9B1P2 (221020 upstream) : None (None downstream) NA NA NA tcccctgaaaactagacagaa 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92323258A>T NA hg19 0.02 -0.421087 AAAxCTA COVERED NOVEL 0 6 8.72463 KEEP 42 0 0 29 875 AA 0.995343 0.943985 0 3 22 107 0 0 7.505124 37 40 1286 134 0.075 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92325055 92325055 __UNKNOWN__ IGR SNP T T C rs4309040 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92325055T>C NA NA SLC9B1P2 (222817 upstream) : None (None downstream) NA NA NA acactctttttgtaaaatctg 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92325055T>C NA hg19 0.02 7.957487 TTTxGTA COVERED NOVEL 0 31 25.10247 KEEP 251 1 36 96 2796 TT 1 1 0 15 40 495 1 0 37.288647 101 45 3400 632 0.12931 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92325239 92325239 __UNKNOWN__ IGR SNP A A T rs11491325 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:92325239A>T NA NA SLC9B1P2 (223001 upstream) : None (None downstream) NA NA NA agtatctggaagtggacattt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.92325239A>T NA hg19 0.02 11.286924 GGAxGTG COVERED NOVEL 0 18 14.407645 KEEP 253 2 54 67 2098 AA 0.999869 0.999869 0 10 22 334 0 0 22.135879 143 40 5099 712 0.065359 1 AC097374.2 0 __UNKNOWN__ __UNKNOWN__ 2 95588121 95588121 __UNKNOWN__ RNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:95588121C>T ENST00000568768.1 - 0 476 NA NA NA catgagccaccacacccagct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000568768.1: chr2.hg19:g.95588121C>T NA hg19 0.02 -0.061411 CACxACA UNCOVERED NOVEL AC097374.2-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000431504.1 16 2.332006 KEEP 7 1 29 18 583 CC 0.993634 0.043508 0 - 2 24 77 0 0 6.99572 4 60 138 32 ENST00000568768.1 0.333333 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 96687684 96687684 __UNKNOWN__ IGR SNP A A G rs2918924 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:96687684A>G NA NA FAHD2CP (102 upstream) : GPAT2 (9 downstream) NA NA NA ACACACATACACCAAAAAGAT 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.96687684A>G NA hg19 0.02 21.742575 TACxCCA COVERED NOVEL 0 6 19.766818 KEEP 1 1 35 78 2274 AA 1 1 0 25 60 695 0 0 35.415463 698 60 22994 924 0.034578 1 SNRNP200 23020 __UNKNOWN__ __UNKNOWN__ 2 96942359 96942359 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:96942359T>C ENST00000323853.5 - 43 6252 SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) NA NA ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 ggggtttcactatgttggcca 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL831994 CCDS2020.1 2q11.2 2013-05-13 2008-10-29 2008-10-29 ENSG00000144028 ENSG00000144028 23020 30859 protein-coding gene gene with protein product U5 snRNP specific protein, 200 KD 601664 activating signal cointegrator 1 complex subunit 3-like 1, retinitis pigmentosa 33 (autosomal dominant) ASCC3L1, RP33 NA 9872452, 8670905, 9774689, 9539711, 16612614, 19878916 Standard NM_014014 NM_014014 NA Approved U5-200KD, HELIC2, KIAA0788, BRR2 uc002svu.3 O75643 OTTHUMG00000130455 ENST00000323853.5:c.6174+282A>G chr2.hg19:g.96942359T>C NA O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0 hg19 CCDS2020.1 0.02 1.716237 CACxATG COVERED NOVEL SNRNP200-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252846.2 3 3.541168 KEEP 0 1 32 23 646 TT 0.999909 0.999677 0 - 4 40 141 0 0 8.945159 84 60 2976 113 ENST00000323853.5 0.045455 0.999768 ANKRD36 375248 __UNKNOWN__ __UNKNOWN__ 2 97827830 97827830 __UNKNOWN__ Intron SNP T T A rs201574565 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:97827830T>A ENST00000461153.2 + 18 1633 ANKRD36_ENST00000420699.2_Intron A6QL64 AN36A_HUMAN ankyrin repeat domain 36 NA NA endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TTTTTTTTTTTAATAGGAAGG 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 14 10 11 NA NA NA 2 NA NA 97827830 691 1550 2241 SO:0001627 intron_variant BC046186 CCDS54379.1 2q11.2 2013-09-24 ENSG00000135976 ENSG00000135976 375248 Ankyrin repeat domain containing 24079 protein-coding gene gene with protein product NA NA 12975309 Standard NM_001164315 NA Approved UNQ2430 uc010yva.2 A6QL64 OTTHUMG00000155256 ENST00000461153.2:c.1390-6T>A chr2.hg19:g.97827830T>A NA B4E3I8|Q6UX02|Q86X62|Q9HCD1 hg19 CCDS54379.1 0.02 2.114683 TTTxAAT COVERED NOVEL ANKRD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339154.5 0 2.707873 KEEP 1 0 0 9 270 TT 0.99254 0.9667 0 + 6 59 211 0 0 16.293217 39 60 1302 90 ENST00000461153.2 0.133333 0.973965 ANKRD36 375248 __UNKNOWN__ __UNKNOWN__ 2 97828930 97828930 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:97828930G>T ENST00000461153.2 + 18 1673 ANKRD36_ENST00000420699.2_Intron A6QL64 AN36A_HUMAN ankyrin repeat domain 36 NA NA endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 cttgaacccaggcggcggagg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC046186 CCDS54379.1 2q11.2 2013-09-24 ENSG00000135976 ENSG00000135976 375248 Ankyrin repeat domain containing 24079 protein-coding gene gene with protein product NA NA 12975309 Standard NM_001164315 NA Approved UNQ2430 uc010yva.2 A6QL64 OTTHUMG00000155256 ENST00000461153.2:c.1429+1055G>T chr2.hg19:g.97828930G>T NA B4E3I8|Q6UX02|Q86X62|Q9HCD1 hg19 CCDS54379.1 0.02 1.757054 CCAxGCG COVERED NOVEL ANKRD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339154.5 6 9.880948 KEEP 31 0 0 33 1044 GG 0.999931 0.997484 0 + 4 53 131 0 0 8.460501 62 60 2158 147 ENST00000461153.2 0.060606 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 98128300 98128300 __UNKNOWN__ IGR SNP A A G rs200990159 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:98128300A>G NA NA AC159540.1 (37251 upstream) : ANKRD36B (35727 downstream) NA NA NA GCTGTCCACTATAACAGGCTA 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 4 4 NA NA NA 2 NA NA 98128300 422 1817 2239 SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.98128300A>G NA hg19 0.02 6.894449 ACTxTAA COVERED NOVEL 0 4 3.041115 KEEP 208 1 34 22 628 AA 0.993072 0.993072 0 6 27 221 0 0 15.246466 89 27 3016 420 0.063158 1 TBC1D8 11138 __UNKNOWN__ __UNKNOWN__ 2 101861552 101861552 __UNKNOWN__ Intron SNP C C G rs35637841 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:101861552C>G ENST00000462819.1 - 1 94 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) NA NA blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284) membrane (GO:0016020) calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097) breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 ctggccagatcccgcaataTC 0.547 NA NA C||| 1989 0.397165 0.2284 0.4654 5008 , , NA 15535 0.5268 NA 0.4364 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB024057 CCDS46375.1 2q12.1 2011-11-30 ENSG00000204634 ENSG00000204634 11138 17791 protein-coding gene gene with protein product BUB2-like protein 1, vascular Rab-GAP/TBC-containing protein NA NA 10373574 Standard NM_007063 NM_001102426 NA Approved HBLP1, VRP, AD3 uc010fiv.3 O95759 OTTHUMG00000153040 ENST00000462819.1:c.486+7671G>C chr2.hg19:g.101861552C>G NA A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32 hg19 0.02 -0.324604 GATxCCG COVERED NOVEL TBC1D8-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000329181.1 0 2.706938 KEEP 0 0 0 9 278 CC 0.99254 0.829482 0 - 18 60 659 0 0 63.355324 19 60 679 55 ENST00000462819.1 0.486486 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 107096622 107096622 __UNKNOWN__ IGR SNP C C T rs188197886 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:107096622C>T NA NA RGPD3 (11790 upstream) : AC108868.1 (3105 downstream) NA NA NA ATTATAAAGGCGCTCATCTTG 0.338 NA NA c||| 124 0.0247604 0.0893 0.0029 5008 , , NA 12296 0.001 NA 0.003 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.107096622C>T NA hg19 0.02 -0.402479 AGGxGCT COVERED NOVEL 0 0 3.89685 KEEP 0 0 0 13 340 CC 0.994391 0.936459 0 6 33 216 0 0 16.736136 40 60 1191 78 0.130435 0.941741 ANAPC1 64682 __UNKNOWN__ __UNKNOWN__ 2 112540142 112540142 __UNKNOWN__ Intron SNP T T C rs1357228 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:112540142T>C ENST00000341068.3 - 43 5836 NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TGGCTGGAAATAGTGTTTTCC 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ278357 CCDS2093.1 2q12.1 2011-06-15 ENSG00000153107 ENSG00000153107 64682 Anaphase promoting complex subunits 19988 protein-coding gene gene with protein product 608473 NA 11179667 Standard NM_022662 NM_022662 NA Approved MCPR, TSG24, APC1 uc002ssh.3 Q9H1A4 OTTHUMG00000131277 ENST00000341068.3:c.5064-58A>G chr2.hg19:g.112540142T>C NA Q2M3H8|Q9BSE6|Q9H8D0 hg19 CCDS2093.1 0.02 6.278933 AAAxAGT COVERED NOVEL ANAPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254045.2 0 2.981157 KEEP 22 0 0 10 265 TT 0.992708 0.992708 0 - 14 33 488 0 0 34.952332 144 60 4746 191 ENST00000341068.3 0.088608 1 TMEM87B 84910 __UNKNOWN__ __UNKNOWN__ 2 112813329 112813329 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:112813329A>G ENST00000283206.4 + 1 530 c.161A>G c.(160-162)aAc>aGc p.N54S NM_032824.2 NP_116213.1 Q96K49 TM87B_HUMAN transmembrane protein 87B 54 NA integral component of membrane (GO:0016021) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1) 19 GAGACAGTCAACGACGTAAGT 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 14 16 15 NA NA NA 2 NA NA 112813329 2184 4277 6461 SO:0001583 missense AC092645 CCDS33275.1 2q13 2008-02-05 ENSG00000153214 ENSG00000153214 84910 25913 protein-coding gene gene with protein product NA NA Standard NM_032824 NM_032824 NA Approved FLJ14681 uc002thm.2 Q96K49 OTTHUMG00000153266 ENST00000283206.4:c.161A>G chr2.hg19:g.112813329A>G ENSP00000283206:p.Asn54Ser NA A8K2M9|Q1RLN2|Q53R54 hg19 CCDS33275.1 0.02 9.237943 TCAxCGA COVERED . . . . . . . . . . a 10.13 1.264801 0.23136 . . ENSG00000153214 ENST00000283206 . . . 3.66 -7.32 0.01436 . 0.634288 0.14786 N 0.298505 T 0.22475 0.0542 L 0.47716 1.5 0.09310 N 1 B;B 0.06786 0.001;0.001 B;B 0.06405 0.002;0.001 T 0.43015 -0.9417 9 0.07325 T 0.83 -1.5524 6.6825 0.23127 0.1949:0.4769:0.3282:0.0 . 54;54 Q96K49-2;Q96K49 .;TM87B_HUMAN S 54 . ENSP00000283206:N54S N + 2 0 TMEM87B 112529800 0.000000 0.05858 0.164000 0.22755 0.979000 0.70002 -1.082000 0.03400 -0.814000 0.04352 -0.602000 0.04101 AAC NOVEL TMEM87B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330500.1 2 37.908462 KEEP 0 0 0 126 3824 AA 1 1 0 + 51 60 1843 0 0 157.249774 166 60 5665 463 ENST00000283206.4 0.235023 1 FOXD4L1 200350 __UNKNOWN__ __UNKNOWN__ 2 114257162 114257162 __UNKNOWN__ Missense_Mutation SNP A A C rs201655302 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:114257162A>C ENST00000306507.5 + 1 502 c.329A>C c.(328-330)tAc>tCc p.Y110S NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 110 NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 AAGCCCCCCTACTCGTACATC 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 33 45 41 NA NA NA 2 NA NA 114257162 2197 4271 6468 SO:0001583 missense AF452723 CCDS2117.1 2q14.1 2008-02-05 ENSG00000184492 ENSG00000184492 200350 18521 protein-coding gene gene with protein product 611084 NA 12421752, 15233989 Standard NM_012184 NM_012184 NA Approved FOXD5 uc002tjw.4 Q9NU39 OTTHUMG00000131359 ENST00000306507.5:c.329A>C chr2.hg19:g.114257162A>C ENSP00000302756:p.Tyr110Ser NA B3KWN1|B9EGF3 hg19 CCDS2117.1 0.02 1.883088 CCTxCTC COVERED . . . . . . . . . . . 16.46 3.128625 0.56721 . . ENSG00000184492 ENST00000306507 D 0.95980 -3.87 2.85 2.85 0.33270 Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1); 0.000000 0.31404 U 0.007714 D 0.96222 0.8768 H 0.96048 3.76 0.58432 D 0.999999 B 0.27068 0.167 B 0.30716 0.119 D 0.95549 0.8619 10 0.62326 D 0.03 . 9.1315 0.36848 1.0:0.0:0.0:0.0 . 110 Q9NU39 FX4L1_HUMAN S 110 ENSP00000302756:Y110S ENSP00000302756:Y110S Y + 2 0 FOXD4L1 113973632 1.000000 0.71417 1.000000 0.80357 0.689000 0.40095 5.507000 0.66999 1.309000 0.44985 0.155000 0.16302 TAC NOVEL FOXD4L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254148.1 0 2.707589 KEEP 8 0 0 9 267 AA 0.99254 0.988801 0 + 7 30 222 0 0 15.720112 62 47 2043 115 ENST00000306507.5 0.101449 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 114344128 114344128 __UNKNOWN__ IGR SNP A A C rs201073366 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:114344128A>C NA NA MIR1302-3 (3455 upstream) : WASH2P (7624 downstream) NA NA NA gagtttcaccatgttggtcag 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.114344128A>C NA hg19 0.02 -0.070177 ACCxTGT UNCOVERED NOVEL 0 2 2.406992 KEEP 12 0 0 8 244 AA 0 0 0 3 25 113 0 0 10.925562 3 46 97 26 0.5 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 114357036 114357036 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:114357036G>A NA NA WASH2P (416 upstream) : RPL23AP7 (11042 downstream) NA NA NA AAGGCTGCAGGAGTGACTCAG 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.114357036G>A NA hg19 0.02 -0.289182 CAGxAGT UNCOVERED NOVEL 0 1 2.708898 KEEP 36 0 0 9 321 GG 0 0 0 4 22 138 0 0 10.418572 29 47 1019 85 0.121212 0.760887 ACTR3 10096 __UNKNOWN__ __UNKNOWN__ 2 114691822 114691822 __UNKNOWN__ Intron SNP G G T rs75847843|rs375722707 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:114691822G>T ENST00000263238.2 + 6 752 ACTR3_ENST00000535589.2_Intron|ACTR3_ENST00000536059.1_Intron NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) NA NA Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653) actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102) ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 ttttttttttgtttttttgcc 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 58 64 62 NA NA NA 2 NA NA 114691822 2203 4300 6503 SO:0001627 intron_variant AF006083 CCDS33277.1, CCDS63000.1 2q14.1 2010-07-20 2001-11-28 ENSG00000115091 ENSG00000115091 10096 170 protein-coding gene gene with protein product 604222 ARP3 (actin-related protein 3, yeast) homolog NA 9230079 Standard NM_005721 NM_005721 NA Approved ARP3 uc002tkx.2 P61158 OTTHUMG00000153497 ENST00000263238.2:c.433-34G>T chr2.hg19:g.114691822G>T NA P32391|Q53QM2 hg19 CCDS33277.1 0.02 3.325392 TTTxTTT COVERED NOVEL ACTR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331366.2 1 2.39524 KEEP 1 0 0 8 197 GG 0.99257 0.992569 0 + 21 60 324 0 0 19.858801 87 60 2195 148 ENST00000263238.2 0.194444 0.999999 ACTR3 10096 __UNKNOWN__ __UNKNOWN__ 2 114691836 114691836 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:114691836C>T ENST00000263238.2 + 6 752 ACTR3_ENST00000535589.2_Intron|ACTR3_ENST00000536059.1_Intron NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) NA NA Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653) actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102) ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 ttttgcctttcttctttcttt 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 111 111 111 NA NA NA 2 NA NA 114691836 2203 4300 6503 SO:0001627 intron_variant AF006083 CCDS33277.1, CCDS63000.1 2q14.1 2010-07-20 2001-11-28 ENSG00000115091 ENSG00000115091 10096 170 protein-coding gene gene with protein product 604222 ARP3 (actin-related protein 3, yeast) homolog NA 9230079 Standard NM_005721 NM_005721 NA Approved ARP3 uc002tkx.2 P61158 OTTHUMG00000153497 ENST00000263238.2:c.433-20C>T chr2.hg19:g.114691836C>T NA P32391|Q53QM2 hg19 CCDS33277.1 0.02 2.975414 TTTxTTC COVERED NOVEL ACTR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331366.2 1 2.988494 KEEP 0 0 0 10 293 CC 0.992708 0.992708 0 + 14 60 284 0 0 15.746038 124 60 3919 186 ENST00000263238.2 0.101449 1 MKI67IP 0 __UNKNOWN__ __UNKNOWN__ 2 122485037 122485037 __UNKNOWN__ 3'UTR SNP G G A rs188950176 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:122485037G>A ENST00000285814.4 - 0 1217 AC018737.1_ENST00000419902.1_RNA NM_032390.4 NP_115766.3 Q9BYG3 MK67I_HUMAN NA NA negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 AAACTAAGGAGAGCTATGAAA 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA NA ENST00000285814.4:c.*263C>T chr2.hg19:g.122485037G>A NA A8K788|Q8TB66|Q96ED4 hg19 CCDS2135.1 0.02 19.421492 GGAxAGC COVERED NOVEL MKI67IP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254239.2 1 14.481091 KEEP 0 1 13 53 1751 GG 1 1 0 - 125 60 4351 0 0 377.344334 339 60 12060 606 ENST00000285814.4 0.269397 1 IWS1 55677 __UNKNOWN__ __UNKNOWN__ 2 128271953 128271953 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:128271953C>A ENST00000486662.1 - 2 308 IWS1_ENST00000295321.4_Intron|IWS1_ENST00000455721.2_Intron Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) NA NA mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) tgtacccctccctcccgctta 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000868 CCDS2146.1 2q14.3 2006-03-17 ENSG00000163166 ENSG00000163166 55677 25467 protein-coding gene gene with protein product NA NA Standard NM_017969 NM_017969 NA Approved DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319 uc002ton.2 Q96ST2 OTTHUMG00000131527 ENST00000486662.1:c.563-8625G>T chr2.hg19:g.128271953C>A NA Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8 hg19 0.02 10.135476 CTCxCTC COVERED NOVEL IWS1-003 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000331074.1 1 10.834389 KEEP 0 0 0 36 1221 CC 0.999999 0.999999 0 - 49 60 1583 0 0 126.79306 214 60 7322 369 ENST00000486662.1 0.186312 1 HS6ST1 9394 __UNKNOWN__ __UNKNOWN__ 2 129075797 129075797 __UNKNOWN__ 5'UTR SNP A A C rs199993343 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:129075797A>C ENST00000494089.1 - 0 249 HS6ST1_ENST00000259241.6_Missense_Mutation_p.V114G O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 NA NA angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887) heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146) p.V114G(1) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GTCGCACGGCACCTCGAGGCG 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) liver(1) 2 4 3 NA NA NA 2 NA NA 129075797 1196 3527 4723 SO:0001623 5_prime_UTR_variant AB006179 CCDS42748.1 2q21 2010-03-19 2002-08-23 ENSG00000136720 ENSG00000136720 9394 Sulfotransferases, membrane-bound 5201 protein-coding gene gene with protein product 604846 HS6ST NA 9535912 Standard NM_004807 NM_004807 NA Approved uc002tpt.4 O60243 OTTHUMG00000153542 ENST00000494089.1:c.-336T>G chr2.hg19:g.129075797A>C NA B4DEP2|B4DJ29|Q53SL2|Q9BVI1 hg19 0.02 1.429243 GGCxCCT COVERED . . . . . . . . . . a 15.67 2.902312 0.52227 . . ENSG00000136720 ENST00000259241 D 0.82526 -1.62 3.69 3.69 0.42338 . 0.000000 0.85682 U 0.000000 T 0.77452 0.4132 N 0.22421 0.69 0.80722 D 1 D 0.53462 0.96 P 0.51777 0.679 T 0.74592 -0.3614 9 . . . . 10.2637 0.43443 1.0:0.0:0.0:0.0 . 114 O60243 H6ST1_HUMAN G 114 ENSP00000259241:V114G . V - 2 0 HS6ST1 128792267 0.855000 0.29742 1.000000 0.80357 0.942000 0.58702 0.276000 0.18716 1.308000 0.44962 0.260000 0.18958 GTG NOVEL HS6ST1-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000331573.1 0 5.114725 KEEP 59 0 0 17 510 AA 0.992708 0.992436 0 - 5 27 154 0 0 9.516613 82 40 2666 173 ENST00000494089.1 0.057471 0.999726 CCDC74B 91409 __UNKNOWN__ __UNKNOWN__ 2 130902052 130902052 __UNKNOWN__ Intron SNP T T C rs7569956 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:130902052T>C ENST00000310463.6 - 1 388 CCDC74B_ENST00000392984.3_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409234.3_Intron|CCDC74B_ENST00000409128.1_Intron NM_207310.2 NP_997193.1 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B NA NA endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) CTGACCCTGCTTGGAGAGGAG 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2155.1, CCDS58726.1 2q21.1 2006-11-29 2006-02-16 ENSG00000152076 ENSG00000152076 91409 25267 protein-coding gene gene with protein product NA NA Standard NM_207310 NM_001258307 NA Approved DKFZp434E2321 uc002tqn.2 Q96LY2 OTTHUMG00000131629 ENST00000310463.6:c.250+267A>G chr2.hg19:g.130902052T>C NA Q6NW18 hg19 CCDS2155.1 0.02 10.24047 TGCxTGG COVERED NOVEL CCDC74B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254522.3 6 2.850857 KEEP 18 4 145 60 1893 TT 1 1 0 - 9 33 331 0 0 20.065013 275 60 9733 444 ENST00000310463.6 0.03169 1 CCDC115 84317 __UNKNOWN__ __UNKNOWN__ 2 131096838 131096838 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:131096838C>G ENST00000259229.2 - 5 654 CCDC115_ENST00000409127.1_Intron|CCDC115_ENST00000437688.2_Intron NM_032357.2 NP_115733.2 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 NA NA endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) ACCATGGTATCTGTAGTGTAA 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 32 30 30 NA NA NA 2 NA NA 131096838 2203 4299 6502 SO:0001627 intron_variant AK054693 CCDS2159.1 2q21.1 2010-12-24 ENSG00000136710 ENSG00000136710 84317 28178 protein-coding gene gene with protein product 613734 NA 21118521 Standard NM_032357 XM_005263825 NA Approved MGC12981, FLJ30131, ccp1 uc002tqy.1 Q96NT0 OTTHUMG00000131631 ENST00000259229.2:c.431-33G>C chr2.hg19:g.131096838C>G NA B4DJ47|Q9BR88 hg19 CCDS2159.1 0.02 21.093103 TATxTGT COVERED NOVEL CCDC115-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254524.2 1 18.358458 KEEP 0 0 0 61 2108 CC 1 1 0 - 87 60 3079 0 0 251.975992 380 60 13760 662 ENST00000259229.2 0.186296 1 IMP4 92856 __UNKNOWN__ __UNKNOWN__ 2 131103498 131103498 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:131103498G>C ENST00000259239.3 + 6 1294 c.586G>C c.(586-588)Ggc>Cgc p.G196R IMP4_ENST00000409935.1_Missense_Mutation_p.G196R NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein 196 Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}. NA rRNA processing (GO:0006364) nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529) central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) CTCCCGCCTGGGCAAGCGGGT 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 53 52 NA NA NA 2 NA NA 131103498 2203 4300 6503 SO:0001583 missense BC010042 CCDS2160.1 2q21.1 2014-02-19 2014-02-19 ENSG00000136718 ENSG00000136718 92856 30856 protein-coding gene gene with protein product 612981 IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) NA 8619474, 9110174, 12655004 Standard NM_033416 NM_033416 NA Approved MGC19606, BXDC4 uc002tra.1 Q96G21 OTTHUMG00000131627 ENST00000259239.3:c.586G>C chr2.hg19:g.131103498G>C ENSP00000259239:p.Gly196Arg NA Q3ZTT3 hg19 CCDS2160.1 0.02 28.651844 CTGxGCA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 27.8|27.8 4.860876|4.860876 0.91433|0.91433 .|. .|. ENSG00000136718|ENSG00000136718 ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740|ENST00000452955 T;T;T;T|. 0.26067|. 1.76;1.76;1.76;1.76|. 5.54|5.54 5.54|5.54 0.83059|0.83059 Brix domain (3);Anticodon-binding (1);|. 0.000000|. 0.85682|. D|. 0.000000|. D|D 0.90960|0.90960 0.7158|0.7158 H|H 0.98754|0.98754 4.32|4.32 0.80722|0.80722 D|D 1|1 D|. 0.89917|. 1.0|. D|. 0.91635|. 0.999|. D|D 0.94154|0.94154 0.7408|0.7408 10|5 0.87932|. D|. 0|. -47.3614|-47.3614 17.3603|17.3603 0.87348|0.87348 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 196|. Q96G21|. IMP4_HUMAN|. R|C 196;196;111;141|184 ENSP00000259239:G196R;ENSP00000386411:G196R;ENSP00000386716:G111R;ENSP00000389701:G141R|. ENSP00000259239:G196R|. G|W +|+ 1|3 0|0 IMP4|IMP4 130819968|130819968 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.883000|0.883000 0.51084|0.51084 8.669000|8.669000 0.91163|0.91163 2.779000|2.779000 0.95612|0.95612 0.655000|0.655000 0.94253|0.94253 GGC|TGG NOVEL IMP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254520.2 0 25.879972 KEEP 0 0 0 86 2917 GG 1 1 0 + 127 60 4285 0 0 347.862439 544 60 18522 853 ENST00000259239.3 0.18927 1 PLEKHB2 55041 __UNKNOWN__ __UNKNOWN__ 2 132021908 132021908 __UNKNOWN__ Intron SNP G G A rs201238743 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:132021908G>A ENST00000404460.1 + 7 477 POTEE_ENST00000356920.5_Silent_p.A960A|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 NA NA endosome (GO:0005768)|membrane (GO:0016020) large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) GCCCCGAGGCGCTCTTCCAGC 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 2 1 1 NA NA NA 2 NA NA 132021908 762 1288 2050 SO:0001627 intron_variant CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1 2q22.1 2013-01-10 ENSG00000115762 ENSG00000115762 55041 Pleckstrin homology (PH) domain containing 19236 protein-coding gene gene with protein product NA NA 10200314 Standard NM_017958 NM_017958 NA Approved EVT2, FLJ20783 uc031rpd.1 Q96CS7 OTTHUMG00000131656 ENST00000404460.1:c.424-88685G>A chr2.hg19:g.132021908G>A NA B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1 hg19 0.02 1.573576 GGCxCTC COVERED NOVEL PLEKHB2-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000318943.2 0 3.911172 KEEP 95 0 0 13 409 GG 0.992708 0.992603 0 + 19 49 610 0 0 49.629153 74 48 2531 225 ENST00000404460.1 0.204301 0.999895 TUBA3D 113457 __UNKNOWN__ __UNKNOWN__ 2 132237750 132237750 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:132237750G>A ENST00000321253.6 + 4 591 c.484G>A c.(484-486)Ggc>Agc p.G162S TUBA3D_ENST00000409047.2_3'UTR NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 162 NA 'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) AGTGGATTACGGCAAGAAGTC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(137;2059 2432 35543 39401) NA NA 0 108 117 114 NA NA NA 2 NA NA 132237750 2203 4300 6503 SO:0001583 missense K03460 CCDS33290.1 2q21.1 2007-03-16 ENSG00000075886 ENSG00000075886 113457 Tubulins 24071 protein-coding gene gene with protein product alpha-tubulin isotype H2-alpha NA NA 3785200 Standard NM_080386 NM_080386 NA Approved H2-ALPHA uc002tsu.4 Q13748 OTTHUMG00000153600 ENST00000321253.6:c.484G>A chr2.hg19:g.132237750G>A ENSP00000326042:p.Gly162Ser NA A6NJQ0|Q5W099|Q6PEY3|Q96F18 hg19 CCDS33290.1 0.02 3.23606 TACxGCA COVERED . . . . . . . . . . a 12.93 2.085334 0.36758 . . ENSG00000075886 ENST00000321253;ENST00000341158 T 0.69175 -0.38 2.24 2.24 0.28232 Tubulin/FtsZ, GTPase domain (4); 0.000000 0.47093 U 0.000245 T 0.75627 0.3875 M 0.84773 2.715 0.49483 D 0.999796 B 0.34147 0.438 P 0.46718 0.525 T 0.78802 -0.2061 10 0.72032 D 0.01 . 10.1507 0.42791 0.0:0.0:1.0:0.0 . 162 Q13748 TBA3C_HUMAN S 162 ENSP00000326042:G162S ENSP00000326042:G162S G + 1 0 TUBA3D 131954220 1.000000 0.71417 0.998000 0.56505 0.557000 0.35523 8.151000 0.89636 1.243000 0.43853 0.194000 0.17425 GGC NOVEL TUBA3D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331800.2 1 4.748495 KEEP 11 1 32 27 881 GG 0.999997 0.999995 0 + 6 27 190 0 0 11.550278 113 60 3730 196 ENST00000321253.6 0.05042 0.999998 CCDC74A 90557 __UNKNOWN__ __UNKNOWN__ 2 132290415 132290415 __UNKNOWN__ Intron SNP T T C rs202052126 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:132290415T>C ENST00000295171.6 + 6 1014 CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Intron NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A NA NA endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GGCCCCACCATGCCCCTGCCC 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 38 42 40 NA NA NA 2 NA NA 132290415 2202 4300 6502 SO:0001627 intron_variant CCDS2167.1, CCDS58732.1, CCDS74578.1 2q21.1 2008-02-05 2006-02-16 ENSG00000163040 ENSG00000163040 90557 25197 protein-coding gene gene with protein product NA NA 12477932 Standard NM_138770 NM_138770 NA Approved FLJ40345 uc002ttb.4 Q96AQ1 OTTHUMG00000131667 ENST00000295171.6:c.877-22T>C chr2.hg19:g.132290415T>C NA Q6P4I5 hg19 CCDS2167.1 0.02 6.039872 CCAxGCC COVERED NOVEL CCDC74A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254570.2 1 2.39231 KEEP 8 0 0 8 204 TT 0.99257 0.99257 0 + 6 27 210 0 0 12.54151 168 60 5657 206 ENST00000295171.6 0.034483 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 132384694 132384694 __UNKNOWN__ IGR SNP A A G rs199636465 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:132384694A>G NA NA RNU6-617P (24225 upstream) : LINC01087 (9903 downstream) NA NA NA ATGAAGATCAAGATCATTGCT 0.582 NA NA a||| 5 0.000998403 8e-04 0 5008 , , NA 19415 0 NA 0.003 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA NA 0 56 47 49 NA NA NA 2 NA NA 132384694 692 1590 2282 SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.132384694A>G NA hg19 0.02 -0.350625 TCAxGAT COVERED NOVEL 0 0 2.406821 KEEP 3 0 0 8 247 AA 0.99257 0.871187 0 4 40 147 0 0 11.434154 27 60 922 59 0.129032 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 132769465 132769465 __UNKNOWN__ IGR SNP A A T rs62165386 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:132769465A>T NA NA RP1-156L9.1 (17731 upstream) : ANKRD30BL (135698 downstream) NA NA NA ctgatctccaactcctggact 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.132769465A>T NA hg19 0.02 -0.254346 CCAxCTC COVERED NOVEL 0 4 3.611025 KEEP 3 0 0 12 386 AA 0.992708 0.663648 0 4 39 139 0 0 10.890964 23 60 778 55 0.148148 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 132769521 132769521 __UNKNOWN__ IGR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:132769521T>A NA NA RP1-156L9.1 (17787 upstream) : ANKRD30BL (135642 downstream) NA NA NA gggattatagttttgaggcac 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.132769521T>A NA hg19 0.02 -0.210552 TAGxTTT UNCOVERED NOVEL 0 3 2.708135 KEEP 3 0 0 9 282 TT 0 0 0 4 36 137 0 0 11.262468 16 60 580 45 0.2 0.522161 ANKRD30BL 554226 __UNKNOWN__ __UNKNOWN__ 2 132919488 132919488 __UNKNOWN__ 5'UTR SNP C C G rs79351052 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:132919488C>G ENST00000409867.1 - 0 40 ANKRD30BL_ENST00000470729.1_Intron A7E2S9 A30BL_HUMAN ankyrin repeat domain 30B-like NA NA endometrium(1)|kidney(3) 4 CCGTTAGGCACCTGAGCAGAA 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant 2q21.2 2013-01-22 2010-06-14 2010-06-14 ENSG00000163046 ENSG00000163046 554226 Ankyrin repeat domain containing 35167 protein-coding gene gene with protein product NA non-protein coding RNA 164, ankyrin repeat domain 30B pseudogene 3 NCRNA00164, ANKRD30BP3 NA 17114284 Standard NR_027019 NR_027019 NA Approved uc002tti.3 A7E2S9 OTTHUMG00000153491 ENST00000409867.1:c.-210G>C chr2.hg19:g.132919488C>G NA B8ZZL7 hg19 0.02 10.530131 GCAxCTG COVERED NOVEL ANKRD30BL-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000331353.2 5 5.415653 KEEP 0 0 0 18 574 CC 0.999859 0.999859 0 - 11 47 390 0 0 24.66831 239 60 8095 295 ENST00000409867.1 0.044 1 ANKRD30BL 554226 __UNKNOWN__ __UNKNOWN__ 2 132919501 132919501 __UNKNOWN__ 5'UTR SNP T T G rs78576926 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:132919501T>G ENST00000409867.1 - 0 27 ANKRD30BL_ENST00000470729.1_Intron A7E2S9 A30BL_HUMAN ankyrin repeat domain 30B-like NA NA endometrium(1)|kidney(3) 4 GAGCAGAACCTTTAGGCAGCT 0.597 NA NA t||| 1 0.000199681 0 0 5008 , , NA 18830 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant 2q21.2 2013-01-22 2010-06-14 2010-06-14 ENSG00000163046 ENSG00000163046 554226 Ankyrin repeat domain containing 35167 protein-coding gene gene with protein product NA non-protein coding RNA 164, ankyrin repeat domain 30B pseudogene 3 NCRNA00164, ANKRD30BP3 NA 17114284 Standard NR_027019 NR_027019 NA Approved uc002tti.3 A7E2S9 OTTHUMG00000153491 ENST00000409867.1:c.-223A>C chr2.hg19:g.132919501T>G NA B8ZZL7 hg19 0.02 8.126364 ACCxTTA COVERED NOVEL ANKRD30BL-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000331353.2 5 5.415209 KEEP 0 0 0 18 549 TT 0.999859 0.999859 0 - 14 40 467 0 0 30.578867 214 60 7297 260 ENST00000409867.1 0.061404 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133016519 133016519 __UNKNOWN__ IGR SNP C C T rs62165016 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:133016519C>T NA NA ANKRD30BL (977 upstream) : AC097532.2 (26848 downstream) NA NA NA atcgcttgaacacgggaggtg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.133016519C>T NA hg19 0.02 13.376169 GAAxACG COVERED NOVEL 0 76 4.653953 KEEP 42 10 273 112 3700 CC 1 1 0 8 60 265 0 0 20.421863 47 60 1499 657 0.145455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019274 133019274 __UNKNOWN__ IGR SNP T T A rs10153763 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:133019274T>A NA NA ANKRD30BL (3732 upstream) : AC097532.2 (24093 downstream) NA NA NA TAAATTCACATCTTCACAGAA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.133019274T>A NA hg19 0.02 11.930509 ACAxCTT COVERED NOVEL 0 2 5.716824 KEEP 0 0 0 19 594 TT 0.99986 0.99986 0 15 60 484 0 0 36.422074 97 60 3268 389 0.133929 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019322 133019322 __UNKNOWN__ IGR SNP G G A rs10153835 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:133019322G>A NA NA ANKRD30BL (3780 upstream) : AC097532.2 (24045 downstream) NA NA NA CACAGCACAAGTACCTAATCA 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.133019322G>A NA hg19 0.02 5.894524 CAAxTAC COVERED NOVEL 0 0 3.00928 KEEP 0 0 0 10 331 GG 0.992708 0.992708 0 14 60 458 0 0 38.325269 46 60 1641 207 0.233333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019578 133019578 __UNKNOWN__ IGR SNP C C G rs112681737 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:133019578C>G NA NA ANKRD30BL (4036 upstream) : AC097532.2 (23789 downstream) NA NA NA GGAGGACCAGCAGCTCTTAGT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.133019578C>G NA hg19 0.02 34.239102 CAGxAGC COVERED NOVEL 0 6 9.97597 KEEP 17 4 140 82 2866 CC 1 1 0 53 60 1743 0 0 171.530798 41 60 1429 1125 0.56383 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020226 133020226 __UNKNOWN__ IGR SNP C C T rs113400576 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:133020226C>T NA NA ANKRD30BL (4684 upstream) : AC097532.2 (23141 downstream) NA NA NA TTTGAGCCATCTACCTTCTCA 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.133020226C>T NA hg19 0.02 23.846268 CATxTAC COVERED NOVEL 0 4 5.753166 KEEP 8 1 31 30 1039 CC 0.999997 0.999997 0 13 60 448 0 0 38.979792 34 60 1163 718 0.276596 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020363 133020363 __UNKNOWN__ IGR SNP G G A rs62165969 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:133020363G>A NA NA ANKRD30BL (4821 upstream) : AC097532.2 (23004 downstream) NA NA NA TCGAAGGCATGGAAATCTACT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.133020363G>A NA hg19 0.02 23.036167 CATxGAA COVERED NOVEL 0 9 5.852976 KEEP 14 1 30 30 1029 GG 0.999997 0.999997 0 11 60 378 0 0 31.838818 37 60 1203 828 0.229167 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020501 133020501 __UNKNOWN__ IGR SNP C C T rs112422141 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:133020501C>T NA NA ANKRD30BL (4959 upstream) : AC097532.2 (22866 downstream) NA NA NA GCAACAGGAACACGATATTGC 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.133020501C>T NA hg19 0.02 13.404675 GAAxACG COVERED NOVEL 0 1 4.514679 KEEP 5 0 0 15 525 CC 0.99649 0.99649 0 9 41 317 0 0 23.882238 69 60 2452 432 0.115385 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133034054 133034054 __UNKNOWN__ IGR SNP G G A rs2176439 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:133034054G>A NA NA ANKRD30BL (18512 upstream) : AC097532.2 (9313 downstream) NA NA NA tccaccctgggcgtcaagagt 0.468 NA NA .||| 3679 0.734625 0.4554 0.6542 5008 , , NA 12260 0.8938 NA 0.9165 False NA ,,, NA NA NA 2504 0.818 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.133034054G>A NA hg19 0.02 5.197342 TGGxCGT COVERED NOVEL 0 7 8.726269 KEEP 2 0 0 29 1008 GG 0.999988 0.999988 0 4 60 138 0 0 15.707864 0 0 0 249 1 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133035201 133035201 __UNKNOWN__ IGR SNP G G A rs201473732|rs111488130 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:133035201G>A NA NA ANKRD30BL (19659 upstream) : AC097532.2 (8166 downstream) NA NA NA aaggaaggaaggaaggaagga 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.133035201G>A NA hg19 0.02 1.994701 GAAxGAA COVERED NOVEL 0 29 3.00968 KEEP 1 0 0 10 346 GG 0.99254 0.991657 0 4 60 144 0 0 13.900581 4 60 128 110 0.5 0.99911 THSD7B 80731 __UNKNOWN__ __UNKNOWN__ 2 138434155 138434155 __UNKNOWN__ Missense_Mutation SNP G G C rs554142643 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:138434155G>C ENST00000409968.1 + 28 4979 c.4801G>C c.(4801-4803)Gat>Cat p.D1601H THSD7B_ENST00000272643.3_Missense_Mutation_p.D1604H|THSD7B_ENST00000413152.2_Missense_Mutation_p.D1573H Q9C0I4 THS7B_HUMAN thrombospondin, type I, domain containing 7B 1603 NA integral component of membrane (GO:0016021) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CTTAGCCTACGATGGAGACTT 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 67 67 67 NA NA NA 2 NA NA 138434155 1912 4129 6041 SO:0001583 missense 2q22.1 2006-11-24 ENSG00000144229 ENSG00000144229 80731 29348 protein-coding gene gene with protein product NA NA 11214970 Standard XM_046570.9 NM_001080427 NA Approved KIAA1679 uc002tva.1 Q9C0I4 OTTHUMG00000153590 ENST00000409968.1:c.4801G>C chr2.hg19:g.138434155G>C ENSP00000387145:p.Asp1601His NA hg19 0.02 42.877182 TACxATG COVERED . . . . . . . . . . G 17.83 3.485862 0.63962 . . ENSG00000144229 ENST00000409968;ENST00000272643;ENST00000413152 T;T;T 0.41400 1.5;1.38;1.0 5.65 5.65 0.86999 . 0.000000 0.85682 D 0.000000 T 0.65322 0.2680 M 0.72118 2.19 0.80722 D 1 D 0.89917 1.0 D 0.74348 0.983 T 0.66760 -0.5842 10 0.87932 D 0 . 18.2766 0.90085 0.0:0.0:1.0:0.0 . 1573 C9JKN6 . H 1601;1604;1573 ENSP00000387145:D1601H;ENSP00000272643:D1604H;ENSP00000413841:D1573H ENSP00000272643:D1604H D + 1 0 THSD7B 138150625 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 6.575000 0.74018 2.824000 0.97209 0.655000 0.94253 GAT NOVEL THSD7B-001 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000331769.2 4 29.492949 KEEP 0 0 0 98 3254 GG 1 1 0 + 217 60 7962 0 0 683.81593 684 60 23097 1139 ENST00000409968.1 0.240844 1 ARHGAP15 55843 __UNKNOWN__ __UNKNOWN__ 2 143994485 143994485 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:143994485C>T ENST00000295095.6 + 5 551 ARHGAP15_ENST00000409869.1_3'UTR NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 NA NA positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rac GTPase activator activity (GO:0030675) endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TTTTGTGTTTCTTCTCTAAGT 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY219338 CCDS2184.1 2q22.2-q22.3 2013-01-10 ENSG00000075884 ENSG00000075884 55843 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 21030 protein-coding gene gene with protein product 610578 NA 12650940, 11042152 Standard NM_018460 NM_018460 NA Approved BM046 uc002tvm.4 Q53QZ3 OTTHUMG00000131845 ENST00000295095.6:c.384+8248C>T chr2.hg19:g.143994485C>T NA Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91 hg19 CCDS2184.1 0.02 8.302463 TTTxTTC COVERED NOVEL ARHGAP15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254793.2 1 6.319542 KEEP 0 0 0 21 715 CC 0.999869 0.999869 0 + 40 60 1388 0 0 111.414019 194 60 6949 312 ENST00000295095.6 0.17094 1 ACVR2A 92 __UNKNOWN__ __UNKNOWN__ 2 148640768 148640768 __UNKNOWN__ Intron SNP T T C rs7559714 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:148640768T>C ENST00000241416.7 + 2 691 ACVR2A_ENST00000404590.1_Intron|ACVR2A_ENST00000535787.1_Intron NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA NA NA activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) gtttttgtttttgttttttga 0.383 NA NA T||| 1781 0.355631 0.2852 0.4611 5008 , , NA 18596 0.4742 NA 0.327 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33301.1, CCDS63030.1 2q22.2-q23.3 2008-02-05 2005-05-10 2005-05-10 ENSG00000121989 ENSG00000121989 92 173 protein-coding gene gene with protein product 102581 activin A receptor, type II ACVR2 NA 1314589, 10702675 Standard NM_001616 NM_001278579 NA Approved ACTRII uc002twh.3 P27037 OTTHUMG00000150603 ENST00000241416.7:c.56-13102T>C chr2.hg19:g.148640768T>C NA B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474 hg19 CCDS33301.1 0.02 -0.02632 TTTxTGT UNCOVERED NOVEL ACVR2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319051.1 3 2.403411 KEEP 1 0 0 8 226 TT 0 0 0 + 2 60 74 0 0 7.52484 1 60 38 14 ENST00000241416.7 0.666667 0 AC018731.3 0 __UNKNOWN__ __UNKNOWN__ 2 151989952 151989952 __UNKNOWN__ lincRNA SNP A A G rs367804936|rs61180914|rs563389053|rs376754881|rs57670463 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:151989952A>G ENST00000447078.1 - 0 156 NA NA NA gacagacagaaagagagagag 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000447078.1: chr2.hg19:g.151989952A>G NA hg19 0.02 -0.368461 AGAxAGA COVERED NOVEL AC018731.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000332398.1 109 8.526619 KEEP 42 3 99 63 1914 AA 1 0.899314 0 - 5 60 190 0 0 20.211677 1 60 32 148 ENST00000447078.1 0.833333 0.899314 NEB 4703 __UNKNOWN__ __UNKNOWN__ 2 152586142 152586142 __UNKNOWN__ Missense_Mutation SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:152586142T>A ENST00000604864.1 - 2 64 c.65A>T c.(64-66)gAg>gTg p.E22V NEB_ENST00000409198.1_Missense_Mutation_p.E22V|NEB_ENST00000427231.2_Missense_Mutation_p.E22V|NEB_ENST00000397345.3_Missense_Mutation_p.E22V|NEB_ENST00000603639.1_Missense_Mutation_p.E22V|NEB_ENST00000172853.10_Missense_Mutation_p.E22V P20929 NEBU_HUMAN nebulin 22 NA muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCCCGGCACCTCTTCGTAAAC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 120 118 118 NA NA NA 2 NA NA 152586142 1988 4159 6147 SO:0001583 missense X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703 7720 protein-coding gene gene with protein product nemaline myopathy type 2 161650 NEM2 NA 10051637, 9359044 Standard NM_004543 NM_001164507 NA Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.65A>T chr2.hg19:g.152586142T>A ENSP00000474498:p.Glu22Val NA F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 hg19 CCDS54408.1 0.02 9.967965 ACCxCTT COVERED . . . . . . . . . . T 14.62 2.591050 0.46214 . . ENSG00000183091 ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291 T;T;T;T 0.08193 3.13;3.12;3.12;3.13 5.57 4.41 0.53225 . 0.195241 0.35262 N 0.003322 T 0.07188 0.0182 L 0.29908 0.895 0.80722 D 1 B 0.26445 0.149 B 0.27500 0.08 T 0.21930 -1.0231 10 0.66056 D 0.02 . 8.3453 0.32270 0.0:0.0892:0.0:0.9108 . 22 P20929 NEBU_HUMAN V 22 ENSP00000386259:E22V;ENSP00000380505:E22V;ENSP00000416578:E22V;ENSP00000172853:E22V ENSP00000172853:E22V E - 2 0 NEB 152294388 1.000000 0.71417 1.000000 0.80357 0.849000 0.48306 1.150000 0.31639 0.945000 0.37605 0.533000 0.62120 GAG NOVEL NEB-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000469063.1 2 4.210856 KEEP 0 0 0 14 410 TT 0.995343 0.995343 0 - 64 60 2136 1 0 178.671511 217 60 7729 360 ENST00000604864.1 0.227758 1 CACNB4 785 __UNKNOWN__ __UNKNOWN__ 2 152692803 152692803 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:152692803C>A ENST00000539935.1 - 0 4460 CACNB4_ENST00000360283.6_3'UTR NM_000726.3|NM_001145798.1 NP_000717.2|NP_001139270.1 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit NA NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810) cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891) voltage-gated calcium channel activity (GO:0005245) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) ACTTGTTTCTCTTGCTTATAA 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF038852 CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1 2q22-q23 2009-09-04 ENSG00000182389 ENSG00000182389 785 Calcium channel subunits 1404 protein-coding gene gene with protein product 601949 NA 9628818 Standard NM_000726.3 NM_000726 NA Approved EJM4 uc002tya.3 O00305 OTTHUMG00000155091 ENST00000539935.1:c.*2830G>T chr2.hg19:g.152692803C>A NA A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40 hg19 CCDS46426.1 0.02 5.890927 TCTxTTG COVERED NOVEL CACNB4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000338385.4 1 3.912167 KEEP 0 0 0 13 426 CC 0.994391 0.994391 0 - 42 60 1397 0 0 116.080302 149 60 5342 229 ENST00000539935.1 0.219895 1 TANC1 85461 __UNKNOWN__ __UNKNOWN__ 2 159918553 159918553 __UNKNOWN__ Intron SNP C C T rs56131553 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:159918553C>T ENST00000263635.6 + 3 222 TANC1_ENST00000454300.1_Intron NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 NA NA dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542) axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 agtttgagaccagcctggcca 0.512 NA NA C||| 1466 0.292732 0.351 0.4049 5008 , , NA 18013 0.1746 NA 0.3887 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051515 CCDS42766.1 2q24.2 2013-01-11 ENSG00000115183 ENSG00000115183 85461 Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing 29364 protein-coding gene gene with protein product rolling pebbles homolog B (Drosophila) 611397 NA 15673434 Standard NM_033394 NA Approved KIAA1728, ROLSB uc002uag.3 Q9C0D5 OTTHUMG00000153945 ENST00000263635.6:c.-15-3855C>T chr2.hg19:g.159918553C>T NA C9JD88|Q49AI8 hg19 CCDS42766.1 0.02 -0.043843 GACxAGC UNCOVERED NOVEL TANC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333135.1 6 3.009542 KEEP 5 0 0 10 333 CC 0 0 0 + 4 60 129 0 0 13.718502 1 60 37 16 ENST00000263635.6 0.8 0.024074 PLA2R1 22925 __UNKNOWN__ __UNKNOWN__ 2 160826743 160826743 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:160826743C>T ENST00000283243.7 - 18 2802 PLA2R1_ENST00000392771.1_Intron NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa NA NA cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GAAAAAAAGTCAGCATTTATT 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 79 80 80 NA NA NA 2 NA NA 160826743 2202 4297 6499 SO:0001627 intron_variant U17033 CCDS33309.1, CCDS42767.1 2q23-q24 2011-08-30 2002-08-29 ENSG00000153246 ENSG00000153246 22925 C-type lectin domain containing 9042 protein-coding gene gene with protein product 604939 phospholipase A2 receptor 1, 180kD NA 7721806, 7925459 Standard NM_007366 NA Approved PLA2G1R, PLA2IR, PLA2-R, CLEC13C uc002ube.2 Q13018 OTTHUMG00000154087 ENST00000283243.7:c.2596-20G>A chr2.hg19:g.160826743C>T NA B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7 hg19 CCDS33309.1 0.02 7.956341 AGTxAGC COVERED NOVEL PLA2R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333820.1 3 6.00731 KEEP 0 0 0 20 677 CC 0.999863 0.999863 0 - 54 60 1851 0 0 155.412345 185 60 6660 308 ENST00000283243.7 0.225941 1 SLC4A10 57282 __UNKNOWN__ __UNKNOWN__ 2 162480964 162480964 __UNKNOWN__ 5'UTR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:162480964G>C ENST00000446997.1 + 0 29 SLC4A10_ENST00000415876.2_5'UTR|SLC4A10_ENST00000272716.5_5'UTR|SLC4A10_ENST00000535165.1_5'UTR|SLC4A10_ENST00000375514.5_5'UTR|SLC4A10_ENST00000493021.1_3'UTR NM_001178015.1 NP_001171486.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 NA NA bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Sodium bicarbonate(DB01390) AGCGAGTGCCGGGCTGAGTGT 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 44 43 44 NA NA NA 2 NA NA 162480964 692 1591 2283 SO:0001623 5_prime_UTR_variant CCDS46438.1, CCDS54411.1, CCDS54412.1 2q24.2 2013-05-22 2008-09-15 ENSG00000144290 ENSG00000144290 57282 Solute carriers 13811 protein-coding gene gene with protein product 605556 solute carrier family 4, sodium bicarbonate transporter-like, member 10 NA 10964153, 18319254 Standard NM_022058 NM_022058 NA Approved NBCn2, NCBE uc002ubx.4 Q6U841 OTTHUMG00000153938 ENST00000446997.1:c.-65G>C chr2.hg19:g.162480964G>C NA B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6 hg19 CCDS54411.1 0.02 24.277263 GCCxGGC COVERED NOVEL SLC4A10-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333090.1 1 11.399777 KEEP 0 0 0 38 1210 GG 1 1 0 + 97 60 3255 0 0 259.08346 471 60 15264 759 ENST00000446997.1 0.170775 1 ABCB11 8647 __UNKNOWN__ __UNKNOWN__ 2 169850354 169850354 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:169850354A>G ENST00000263817.6 - 8 774 c.650T>C c.(649-651)aTg>aCg p.M217T NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 217 ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}. NA bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541) GAAAAGGGCCATTTGGTCAGC 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 50 51 NA NA NA 2 NA NA 169850354 1883 4101 5984 SO:0001583 missense AF091582 CCDS46444.1 2q24 2012-03-14 ENSG00000073734 ENSG00000073734 8647 ATP binding cassette transporters / subfamily B 42 protein-coding gene gene with protein product ABC member 16, MDR/TAP subfamily 603201 progressive familial intrahepatic cholestasis 2, bile salt export pump BSEP, PFIC2 NA 9806540 Standard NM_003742 NM_003742 NA Approved ABC16, SPGP, PFIC-2, PGY4 uc002ueo.1 O95342 OTTHUMG00000154039 ENST00000263817.6:c.650T>C chr2.hg19:g.169850354A>G ENSP00000263817:p.Met217Thr NA Q53TL2|Q9UNB2 hg19 CCDS46444.1 0.02 15.327623 GCCxTTT COVERED . . . . . . . . . . A 14.68 2.608215 0.46527 . . ENSG00000073734 ENST00000263817 D 0.89270 -2.49 5.56 5.56 0.83823 ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1); 0.242203 0.42420 D 0.000720 D 0.83161 0.5194 L 0.29908 0.895 0.36829 D 0.886806 B 0.14012 0.009 B 0.21360 0.034 T 0.82506 -0.0423 10 0.87932 D 0 -17.8596 11.6062 0.51033 0.9283:0.0:0.0717:0.0 . 217 O95342 ABCBB_HUMAN T 217 ENSP00000263817:M217T ENSP00000263817:M217T M - 2 0 ABCB11 169558600 1.000000 0.71417 0.323000 0.25347 0.998000 0.95712 4.494000 0.60347 2.104000 0.64026 0.528000 0.53228 ATG NOVEL ABCB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333616.2 3 6.308946 KEEP 0 0 0 21 617 AA 0.999869 0.999869 0 - 83 60 2834 0 0 236.966957 292 60 10161 493 ENST00000263817.6 0.221333 1 MYO3B 140469 __UNKNOWN__ __UNKNOWN__ 2 171323059 171323059 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:171323059C>T ENST00000408978.4 + 25 2995 c.2852C>T c.(2851-2853)cCc>cTc p.P951L MYO3B_ENST00000334231.6_Missense_Mutation_p.P960L|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.P951L NM_138995.4 NP_620482.3 Q8WXR4 MYO3B_HUMAN myosin IIIB 951 Myosin motor. NA peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GTTGGACAGCCCCACTTTGTG 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 98 101 100 NA NA NA 2 NA NA 171323059 1930 4131 6061 SO:0001583 missense CCDS42773.1, CCDS46446.1 2q31.1-q31.2 2011-09-27 ENSG00000071909 ENSG00000071909 140469 Myosins / Myosin superfamily : Class III 15576 protein-coding gene gene with protein product 610040 NA Standard NM_001083615 NA Approved uc002ufy.3 Q8WXR4 OTTHUMG00000154002 ENST00000408978.4:c.2852C>T chr2.hg19:g.171323059C>T ENSP00000386213:p.Pro951Leu NA B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94 hg19 CCDS42773.1 0.02 15.40728 AGCxCCA COVERED . . . . . . . . . . C 27.4 4.826482 0.90955 . . ENSG00000071909 ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231 D;D;D;D 0.90504 -2.68;-2.68;-2.68;-2.68 5.03 5.03 0.67393 Myosin head, motor domain (2); 0.000000 0.85682 D 0.000000 D 0.97464 0.9170 H 0.98388 4.22 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.996;0.999;0.999 D 0.99250 1.0887 10 0.72032 D 0.01 . 18.3721 0.90411 0.0:1.0:0.0:0.0 . 951;951;951 Q8WXR4-5;Q8WXR4-4;Q8WXR4 .;.;MYO3B_HUMAN L 951;951;950;960;960 ENSP00000386497:P951L;ENSP00000386213:P951L;ENSP00000446237:P960L;ENSP00000335100:P960L ENSP00000314213:P950L P + 2 0 MYO3B 171031305 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.731000 0.84895 2.348000 0.79779 0.563000 0.77884 CCC NOVEL MYO3B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333410.1 2 24.073729 KEEP 0 0 0 80 2632 CC 1 1 0 + 80 60 2836 0 0 234.974503 319 60 11118 605 ENST00000408978.4 0.200501 1 MYO3B 140469 __UNKNOWN__ __UNKNOWN__ 2 171393451 171393451 __UNKNOWN__ Intron SNP C C T rs141126669 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:171393451C>T ENST00000408978.4 + 31 3718 MYO3B_ENST00000334231.6_Intron|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Intron NM_138995.4 NP_620482.3 Q8WXR4 MYO3B_HUMAN myosin IIIB NA NA peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 gtggctcacgcctgtaatccc 0.493 NA NA C||| 40 0.00798722 8e-04 0.013 5008 , , NA 14695 0.001 NA 0.0189 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42773.1, CCDS46446.1 2q31.1-q31.2 2011-09-27 ENSG00000071909 ENSG00000071909 140469 Myosins / Myosin superfamily : Class III 15576 protein-coding gene gene with protein product 610040 NA Standard NM_001083615 NA Approved uc002ufy.3 Q8WXR4 OTTHUMG00000154002 ENST00000408978.4:c.3576-5965C>T chr2.hg19:g.171393451C>T NA B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94 hg19 CCDS42773.1 0.02 -0.070183 ACGxCTG UNCOVERED NOVEL MYO3B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333410.1 3 2.708515 KEEP 0 0 0 9 307 CC 0.99254 0.053733 0 + 3 60 102 0 0 9.332753 5 60 175 22 ENST00000408978.4 0.375 0.054137 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178482094 178482094 __UNKNOWN__ Missense_Mutation SNP C C T rs28630685 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:178482094C>T ENST00000355689.5 - 1 1600 c.1336G>A c.(1336-1338)Gtc>Atc p.V446I AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 446 NA V -> I (in dbSNP:rs28630685). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}. cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TTGCGGAAGACCTTTTCCACC 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 75 73 73 NA NA NA 2 NA NA 178482094 2161 4256 6417 SO:0001583 missense AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.1336G>A chr2.hg19:g.178482094C>T ENSP00000347915:p.Val446Ile NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 7.794898 AGAxCTT COVERED 1829 0.8374542124542125 343 0.6971544715447154 316 0.8729281767955801 555 0.9702797202797203 615 0.8113456464379947 T 3.367 -0.129223 0.06753 . . ENSG00000197557 ENST00000355689 T 0.62364 0.03 5.91 5.91 0.95273 Tetratricopeptide-like helical (1); 0.093345 0.64402 N 0.000001 T 0.00012 0.0000 N 0.00030 -2.605 0.48288 P 3.7399999999998546E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.43097 -0.9412 9 0.02654 T 1 . 12.2131 0.54391 0.0:0.0662:0.0:0.9338 rs28630685;rs57030376 446 Q86WT1 TT30A_HUMAN I 446 ENSP00000347915:V446I ENSP00000347915:V446I V - 1 0 TTC30A 178190340 1.000000 0.71417 1.000000 0.80357 0.309000 0.27889 4.034000 0.57289 1.078000 0.41014 -0.275000 0.10095 GTC NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 1 7.833102 KEEP 12 1 31 37 1240 CC 1 1 0 - 76 40 2496 0 0 221.595984 159 50 5453 327 ENST00000355689.5 0.323404 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179548872 179548872 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:179548872A>C ENST00000589042.1 - 133 32947 TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin NA NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAAGGCAGCCATAAAGTAGTA 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.32723-63T>G chr2.hg19:g.179548872A>C NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 13.399889 GCCxTAA COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 11.13206 KEEP 0 0 0 37 1111 AA 1 1 0 - 94 60 3422 0 0 299.305924 251 60 8628 455 ENST00000589042.1 0.272464 1 ITGAV 3685 __UNKNOWN__ __UNKNOWN__ 2 187516798 187516798 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:187516798C>T ENST00000261023.3 + 15 1761 c.1487C>T c.(1486-1488)aCa>aTa p.T496I ITGAV_ENST00000374907.3_Missense_Mutation_p.T460I|ITGAV_ENST00000433736.2_Missense_Mutation_p.T450I|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 496 NA angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718) alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) Antithymocyte globulin(DB00098) CTGCCTGGAACAGCTCTCAAA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(58;108 1995 6081) NA NA 0 67 70 69 NA NA NA 2 NA NA 187516798 2203 4300 6503 SO:0001583 missense CCDS2292.1, CCDS46470.1, CCDS46471.1 2q31-q32 2012-04-20 2012-04-20 ENSG00000138448 ENSG00000138448 3685 CD molecules, Integrins 6150 protein-coding gene gene with protein product 193210 antigen identified by monoclonal antibody L230, vitronectin receptor, integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) VNRA, MSK8, VTNR NA 2454952 Standard NM_002210 NM_001144999 NA Approved CD51 uc002upq.4 P06756 OTTHUMG00000132635 ENST00000261023.3:c.1487C>T chr2.hg19:g.187516798C>T ENSP00000261023:p.Thr496Ile NA A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15 hg19 CCDS2292.1 0.02 4.009183 GAAxAGC COVERED . . . . . . . . . . C 16.79 3.219578 0.58560 . . ENSG00000138448 ENST00000261023;ENST00000374907;ENST00000433736 T;T;T 0.47869 0.83;0.83;0.83 5.19 5.19 0.71726 Integrin alpha-2 (1); 0.149276 0.64402 D 0.000013 T 0.50394 0.1613 L 0.56199 1.76 0.37488 D 0.91627 P;B;P 0.43607 0.812;0.248;0.812 P;B;P 0.46758 0.526;0.22;0.526 T 0.59558 -0.7432 10 0.66056 D 0.02 . 12.04 0.53448 0.1332:0.7378:0.1289:0.0 . 450;460;496 E7EWZ6;P06756-2;P06756 .;.;ITAV_HUMAN I 496;460;450 ENSP00000261023:T496I;ENSP00000364042:T460I;ENSP00000404291:T450I ENSP00000261023:T496I T + 2 0 ITGAV 187225043 0.999000 0.42202 1.000000 0.80357 0.985000 0.73830 5.371000 0.66150 2.565000 0.86533 0.561000 0.74099 ACA NOVEL ITGAV-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255882.2 0 3.912764 KEEP 0 0 0 13 458 CC 0.994391 0.994391 0 + 86 60 2918 0 0 295.305089 47 60 1747 176 ENST00000261023.3 0.646617 1 NBEAL1 65065 __UNKNOWN__ __UNKNOWN__ 2 204009356 204009356 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:204009356C>T ENST00000449802.1 + 31 5128 c.4795C>T c.(4795-4797)Ctt>Ttt p.L1599F NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1599 NA NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GCTAAATACCCTTCTTCAGAC 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 126 112 117 NA NA NA 2 NA NA 204009356 1887 4119 6006 SO:0001583 missense AY172970 CCDS46495.1 2q33 2013-01-10 ENSG00000144426 ENSG00000144426 65065 WD repeat domain containing 20681 protein-coding gene gene with protein product 609816 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16 ALS2CR17, ALS2CR16 NA 15193433 Standard NM_001114132 NA Approved MGC164581 uc002uzt.3 Q6ZS30 OTTHUMG00000154129 ENST00000449802.1:c.4795C>T chr2.hg19:g.204009356C>T ENSP00000399903:p.Leu1599Phe NA A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31 hg19 CCDS46495.1 0.02 18.038548 ACCxTTC COVERED . . . . . . . . . . C 22.0 4.235458 0.79800 . . ENSG00000144426 ENST00000449802;ENST00000340268 T 0.68624 -0.34 5.8 5.8 0.92144 . 0.360492 0.28754 N 0.014253 T 0.72203 0.3431 M 0.72118 2.19 0.53688 D 0.999972 P;P 0.50272 0.933;0.933 P;P 0.44860 0.462;0.462 T 0.76645 -0.2883 10 0.87932 D 0 . 19.6495 0.95795 0.0:1.0:0.0:0.0 . 1599;1588 Q6ZS30;C9JGK5 NBEL1_HUMAN;. F 1599 ENSP00000399903:L1599F ENSP00000344985:L1599F L + 1 0 NBEAL1 203717601 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.765000 0.68834 2.748000 0.94277 0.655000 0.94253 CTT NOVEL NBEAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333982.4 4 10.212055 KEEP 0 0 0 34 1129 CC 0.999998 0.999998 0 + 119 60 4161 0 0 362.864938 310 60 11099 548 ENST00000449802.1 0.277389 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 207911103 207911103 __UNKNOWN__ IGR SNP G G A rs11675905 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:207911103G>A NA NA CPO (76905 upstream) : KLF7 (27757 downstream) NA NA NA ggagaaggaggaggaggagga 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.207911103G>A NA hg19 0.02 -0.120887 GAGxAGG UNCOVERED NOVEL 0 3 3.004881 KEEP 8 0 0 10 297 GG 0 0 0 4 40 106 1 1 9.03489 9 60 278 29 0.307692 0.196312 CCNYL1 151195 __UNKNOWN__ __UNKNOWN__ 2 208619207 208619207 __UNKNOWN__ 3'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:208619207C>G ENST00000339882.5 + 0 1858 CCNYL1_ENST00000295414.3_3'UTR NM_001142300.1 NP_001135772.1 Q8N7R7 CCYL1_HUMAN cyclin Y-like 1 NA NA regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079) endometrium(1)|large_intestine(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14) TAATGCCAACCAACATGGTGG 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095479 CCDS2377.1, CCDS46503.1 2q33.3 2008-02-05 ENSG00000163249 ENSG00000163249 151195 26868 protein-coding gene gene with protein product NA NA Standard NM_152523 NM_152523 NA Approved FLJ40432 uc002vci.3 Q8N7R7 OTTHUMG00000132946 ENST00000339882.5:c.*785C>G chr2.hg19:g.208619207C>G NA Q6NX60 hg19 CCDS46503.1 0.02 4.217799 AACxAAC COVERED NOVEL CCNYL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337061.1 1 3.310827 KEEP 0 0 0 11 390 CC 0.993634 0.993633 0 + 41 60 1367 0 0 120.739217 91 60 3261 175 ENST00000339882.5 0.310606 1 SPAG16 79582 __UNKNOWN__ __UNKNOWN__ 2 214878799 214878799 __UNKNOWN__ Missense_Mutation SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:214878799A>T ENST00000331683.5 + 13 1620 c.1525A>T c.(1525-1527)Aca>Tca p.T509S SPAG16_ENST00000374309.3_Missense_Mutation_p.T415S NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 509 NA cilium assembly (GO:0042384)|spermatogenesis (GO:0007283) axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GGATGCAAGAACAGTAAGCAA 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 150 146 147 NA NA NA 2 NA NA 214878799 2203 4300 6503 SO:0001583 missense AF310672 CCDS2396.1, CCDS46508.1 2q34 2013-05-21 ENSG00000144451 ENSG00000144451 79582 WD repeat domain containing 23225 protein-coding gene gene with protein product 612173 NA 12391165, 11867345 Standard NM_024532 NM_024532 NA Approved PF20, FLJ22724, DKFZp666P1710, WDR29 uc002veq.4 Q8N0X2 OTTHUMG00000133015 ENST00000331683.5:c.1525A>T chr2.hg19:g.214878799A>T ENSP00000332592:p.Thr509Ser NA Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601 hg19 CCDS2396.1 0.02 16.076049 AGAxCAG COVERED . . . . . . . . . . A 6.731 0.503665 0.12822 . . ENSG00000144451 ENST00000331683;ENST00000374309;ENST00000451561 T;T;T 0.81415 -1.49;-1.49;-1.46 5.01 5.01 0.66863 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.206165 0.31519 N 0.007505 T 0.73171 0.3553 N 0.15975 0.35 0.53688 D 0.999978 P;P;B;P 0.50443 0.935;0.925;0.047;0.935 B;P;B;B 0.49752 0.315;0.621;0.059;0.315 T 0.72603 -0.4243 10 0.25751 T 0.34 . 15.0152 0.71578 1.0:0.0:0.0:0.0 . 415;360;449;509 B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2 .;.;.;SPG16_HUMAN S 509;415;133 ENSP00000332592:T509S;ENSP00000363428:T415S;ENSP00000416600:T133S ENSP00000332592:T509S T + 1 0 SPAG16 214587044 1.000000 0.71417 0.997000 0.53966 0.938000 0.57974 5.764000 0.68826 1.982000 0.57802 0.533000 0.62120 ACA NOVEL SPAG16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256601.2 4 8.72629 KEEP 0 0 0 29 910 AA 0.999997 0.999997 0 + 114 60 3948 0 0 338.979181 333 60 11503 583 ENST00000331683.5 0.255034 1 ATIC 471 __UNKNOWN__ __UNKNOWN__ 2 216212488 216212488 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:216212488A>T ENST00000236959.9 + 14 1829 ATIC_ENST00000435675.1_Intron|ATIC_ENST00000540518.1_Intron NM_004044.6 NP_004035.2 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase NA NA 'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739) IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803) ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116) GTCCTGAAAGAGTCCTGGAAG 0.348 NA NA T ALK ALCL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 2 2q35 471 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2398.1 2q35 2010-04-27 ENSG00000138363 ENSG00000138363 471 2.1.2.3, 3.5.4.10 794 protein-coding gene gene with protein product phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase 601731 NA 8567683, 9378707 Standard NM_004044 NM_004044 NA Approved PURH, AICARFT, IMPCHASE uc002vex.4 P31939 OTTHUMG00000133023 ENST00000236959.9:c.1503+824A>T chr2.hg19:g.216212488A>T NA A8K202|E9PBU3|Q13856|Q53S28 hg19 CCDS2398.1 0.02 3.696038 AAGxGTC COVERED NOVEL ATIC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256610.1 0 2.405225 KEEP 0 0 0 8 241 AA 0.99257 0.99257 0 + 46 60 1593 0 0 141.747353 100 60 3561 156 ENST00000236959.9 0.315068 1 SLC11A1 6556 __UNKNOWN__ __UNKNOWN__ 2 219249825 219249825 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:219249825G>A ENST00000233202.6 + 4 613 SLC11A1_ENST00000473367.1_Intron|SLC11A1_ENST00000539932.1_Intron NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 NA NA activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060) cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821) manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCTTTCTGAGGCTGGCCT 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 23 24 24 NA NA NA 2 NA NA 219249825 2203 4298 6501 SO:0001627 intron_variant D38171 CCDS2415.1 2q35 2013-07-18 2013-07-18 ENSG00000018280 ENSG00000018280 6556 Solute carriers 10907 protein-coding gene gene with protein product natural resistance-associated macrophage protein 1 600266 LSH, NRAMP, NRAMP1 NA 7964458, 7980580 Standard NM_000578 NM_000578 NA Approved uc002vhv.3 P49279 OTTHUMG00000086747 ENST00000233202.6:c.274-45G>A chr2.hg19:g.219249825G>A NA C0H5Y3 hg19 CCDS2415.1 0.02 3.812336 TCTxAGG COVERED NOVEL SLC11A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195076.2 0 4.514489 KEEP 0 0 0 15 508 GG 0.99649 0.996483 0 + 32 60 1050 0 0 91.463616 78 60 2753 138 ENST00000233202.6 0.290909 0.999993 BCS1L 617 __UNKNOWN__ __UNKNOWN__ 2 219526977 219526977 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:219526977G>C ENST00000431802.1 + 5 1412 c.713G>C c.(712-714)aGt>aCt p.S238T BCS1L_ENST00000392110.2_Missense_Mutation_p.S238T|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392109.1_Missense_Mutation_p.S238T|BCS1L_ENST00000392111.2_Missense_Mutation_p.S238T|BCS1L_ENST00000412366.1_Missense_Mutation_p.S238T|BCS1L_ENST00000359273.3_Missense_Mutation_p.S238T|BCS1L_ENST00000439945.1_Missense_Mutation_p.S238T Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like 238 NA mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005) mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739) ATP binding (GO:0005524) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAAAGAGCAGTTTTATGTGA 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 162 168 166 NA NA NA 2 NA NA 219526977 2203 4300 6503 SO:0001583 missense AF026849 CCDS2419.1 2q35 2014-09-17 2012-10-12 ENSG00000074582 ENSG00000074582 617 ATPases / AAA-type, Mitochondrial respiratory chain complex assembly factors 1020 protein-coding gene gene with protein product GRACILE syndrome, Bjornstad syndrome 603647 BCS1 (yeast homolog)-like, BCS1-like (yeast), BCS1-like (S. cerevisiae) NA 9878253, 17314340 Standard NM_004328 NM_001079866 NA Approved Hs.6719, BCS, h-BCS, BJS uc002viq.3 Q9Y276 OTTHUMG00000133114 ENST00000431802.1:c.713G>C chr2.hg19:g.219526977G>C ENSP00000413908:p.Ser238Thr NA B3KTW9|Q7Z2V7 hg19 CCDS2419.1 0.02 9.125454 GCAxTTT COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 27.0|27.0 4.791777|4.791777 0.90453|0.90453 .|. .|. ENSG00000074582|ENSG00000074582 ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802;ENST00000426649|ENST00000436603 D;D;D;D;D;D;D;D|. 0.85171|. -1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95|. 4.87|4.87 4.87|4.87 0.63330|0.63330 ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.77103|0.77103 0.4081|0.4081 M|M 0.76838|0.76838 2.35|2.35 0.80722|0.80722 D|D 1|1 D|. 0.76494|. 0.999|. D|. 0.76071|. 0.987|. T|T 0.77803|0.77803 -0.2451|-0.2451 10|5 0.72032|. D|. 0.01|. -11.7041|-11.7041 18.1884|18.1884 0.89799|0.89799 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 238|. Q9Y276|. BCS1_HUMAN|. T|L 118;238;238;238;238;238;238;238;21|20 ENSP00000412729:S118T;ENSP00000352219:S238T;ENSP00000375957:S238T;ENSP00000375958:S238T;ENSP00000375959:S238T;ENSP00000406494:S238T;ENSP00000404999:S238T;ENSP00000413908:S238T|. ENSP00000352219:S238T|. S|V +|+ 2|1 0|0 BCS1L|BCS1L 219235221|219235221 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.988000|0.988000 0.76386|0.76386 9.212000|9.212000 0.95126|0.95126 2.520000|2.520000 0.84964|0.84964 0.555000|0.555000 0.69702|0.69702 AGT|GTT NOVEL BCS1L-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336756.1 1 7.502904 KEEP 0 0 0 25 835 GG 0.999931 0.999931 0 + 60 60 2095 0 0 180.662776 171 60 6138 311 ENST00000431802.1 0.25974 1 ALPP 250 __UNKNOWN__ __UNKNOWN__ 2 233246153 233246153 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:233246153C>T ENST00000392027.2 + 11 1578 AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental NA NA dephosphorylation (GO:0016311) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270) NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGTCACCTCCTGTCTGCCTG 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M14169 CCDS2490.1 2q37.1 2010-06-24 2010-06-24 ENSG00000163283 ENSG00000163283 250 3.1.3.1 439 protein-coding gene gene with protein product Regan isozyme 171800 alkaline phosphatase, placental (Regan isozyme) NA 3001717, 3461452 Standard NM_001632 XM_005246439 NA Approved uc002vsq.3 P05187 OTTHUMG00000133255 ENST00000392027.2:c.1310-54C>T chr2.hg19:g.233246153C>T NA P05188|P06861|Q53S78|Q96DB7 hg19 CCDS2490.1 0.02 15.259017 CTCxTGT COVERED NOVEL ALPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257032.3 0 11.170485 KEEP 1 1 34 49 1669 CC 1 1 0 + 19 54 631 0 0 38.384673 420 60 14975 604 ENST00000392027.2 0.04328 1 IQCA1 79781 __UNKNOWN__ __UNKNOWN__ 2 237289120 237289120 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:237289120C>A ENST00000409907.3 - 12 1753 IQCA1_ENST00000309507.5_Intron|IQCA1_ENST00000431676.2_Intron NM_024726.4 NP_079002.3 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 NA NA ATP binding (GO:0005524) cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 ATGAAGAGGGCGTGGCATCAC 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026180 CCDS46549.1, CCDS59441.1, CCDS74677.1 2q37.3 2014-07-18 2008-07-02 2008-07-02 ENSG00000132321 ENSG00000132321 79781 ATPases / AAA-type 26195 protein-coding gene gene with protein product dynein regulatory complex subunit 11 NA IQ motif containing with AAA domain IQCA NA 23427265 Standard NM_024726 NM_024726 NA Approved FLJ22527, DRC11 uc002vwb.3 Q86XH1 OTTHUMG00000153058 ENST00000409907.3:c.1478+91G>T chr2.hg19:g.237289120C>A NA B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680 hg19 CCDS46549.1 0.02 3.470487 GGGxGTG COVERED NOVEL IQCA1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000329266.1 0 4.469674 KEEP 0 2 18 22 619 CC 0.999909 0.999909 0 - 10 60 206 0 0 9.825019 142 60 4263 194 ENST00000409907.3 0.065789 1 HES6 55502 __UNKNOWN__ __UNKNOWN__ 2 239147736 239147736 __UNKNOWN__ Missense_Mutation SNP C C G rs557696613 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:239147736C>G ENST00000272937.5 - 4 625 c.407G>C c.(406-408)cGt>cCt p.R136P AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409574.1_3'UTR|HES6_ENST00000409002.3_Missense_Mutation_p.R134P|HES6_ENST00000409160.3_Silent_p.A214A|HES6_ENST00000409182.1_Missense_Mutation_p.R107P hes family bHLH transcription factor 6 NA NA lung(1)|skin(1) 2 Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148) GCTGCCCTCACGCAGCGGCAT 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 24 24 24 NA NA NA 2 NA NA 239147736 2198 4292 6490 SO:0001583 missense AB035179 CCDS2527.1, CCDS46556.1, CCDS63180.1 2q37.3 2013-10-17 2013-10-17 ENSG00000144485 ENSG00000144485 55502 Basic helix-loop-helix proteins 18254 protein-coding gene gene with protein product 610331 hairy and enhancer of split 6 (Drosophila) NA 10851137 Standard NM_018645 XM_005246095 NA Approved bHLHb41 uc002vxz.3 Q96HZ4 OTTHUMG00000133340 ENST00000272937.5:c.407G>C chr2.hg19:g.239147736C>G ENSP00000272937:p.Arg136Pro NA hg19 CCDS2527.1 0.02 16.162496 TCAxGCA COVERED . . . . . . . . . . C 11.11 1.543176 0.27563 . . ENSG00000144485 ENST00000272937;ENST00000409002;ENST00000409182 T;T;T 0.30714 2.19;2.19;1.52 3.57 2.33 0.28932 . 0.507685 0.15186 U 0.275804 T 0.12347 0.0300 N 0.08118 0 0.80722 D 1 P;P 0.37158 0.53;0.585 B;B 0.31869 0.084;0.137 T 0.07986 -1.0744 10 0.27785 T 0.31 . 6.8286 0.23897 0.0:0.7997:0.0:0.2003 . 134;136 Q96HZ4-3;Q96HZ4 .;HES6_HUMAN P 136;134;107 ENSP00000272937:R136P;ENSP00000387155:R134P;ENSP00000387343:R107P ENSP00000272937:R136P R - 2 0 HES6 238812475 1.000000 0.71417 0.999000 0.59377 0.142000 0.21351 1.625000 0.37029 1.775000 0.52247 0.297000 0.19635 CGT NOVEL HES6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257170.2 0 27.385749 KEEP 0 0 0 91 3017 CC 1 1 0 - 87 60 3211 0 0 273.611286 295 60 10090 595 ENST00000272937.5 0.227749 1 AC093642.5 0 __UNKNOWN__ __UNKNOWN__ 2 243037115 243037115 __UNKNOWN__ RNA SNP A A G rs573201469 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr2:243037115A>G ENST00000456398.1 + 0 247 NA NA NA GGCTGGAAGAATTGTGAATCT 0.398 NA NA .||| 6 0.00119808 0.0023 0.0029 5008 , , NA 17993 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000456398.1: chr2.hg19:g.243037115A>G NA hg19 0.02 15.95543 AGAxTTG COVERED NOVEL AC093642.5-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000322444.2 1 17.148801 KEEP 6 0 0 57 1736 AA 1 1 0 + 11 40 400 0 1 22.9451 427 60 15036 619 ENST00000456398.1 0.025114 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 3326674 3326674 __UNKNOWN__ IGR SNP T T C rs9879596 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:3326674T>C NA NA CRBN (105280 upstream) : AC026188.1 (30315 downstream) NA NA NA ttcctcttcctcttccccttc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.3326674T>C NA hg19 0.02 -0.070182 TCCxCTT UNCOVERED NOVEL 0 5 3.309269 KEEP 0 0 0 11 328 TT 0.993072 0.053762 0 3 60 105 0 0 9.632865 5 60 170 23 0.375 0.054137 FANCD2 2177 __UNKNOWN__ __UNKNOWN__ 3 10115175 10115175 __UNKNOWN__ Intron SNP G G C rs3843378 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:10115175G>C ENST00000419585.1 + 28 2876 FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000287647.3_Intron|FANCD2_ENST00000383807.1_Intron Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 NA NA DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129) condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA polymerase binding (GO:0070182) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TCTCTTAGGCGTTGGAGTAAT 0.373 NA NA D, Mis, N, F AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia D2 3 3p26 2177 Fanconi anemia, complementation group D2 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) AF340183 CCDS2595.1, CCDS33696.1 3p25.3 2014-09-17 2001-10-05 ENSG00000144554 ENSG00000144554 2177 Fanconi anemia, complementation groups 3585 protein-coding gene gene with protein product 613984 FACD, FANCD NA 7581463, 11239453, 18475298 Standard XM_005264946 NA Approved FAD, FA-D2 uc003buw.3 Q9BXW9 OTTHUMG00000128670 ENST00000419585.1:c.2715+129G>C chr3.hg19:g.10115175G>C NA Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9 hg19 CCDS33696.1 0.02 1.972463 GGCxTTG COVERED NOVEL FANCD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339873.1 2 3.611782 KEEP 0 0 0 12 420 GG 0.993634 0.993529 0 + 4 46 147 0 0 9.469826 88 70 3071 110 ENST00000419585.1 0.043478 0.999895 EFHB 151651 __UNKNOWN__ __UNKNOWN__ 3 19940440 19940440 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:19940440A>T ENST00000344838.4 - 10 1234 EFHB_ENST00000498089.1_Intron|EFHB_ENST00000295824.9_Intron Q8N7U6 EFHB_HUMAN EF-hand domain family, member B NA NA calcium ion binding (GO:0005509) breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 ATTTTATCTCATAACCAAACT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK122616 CCDS33715.2 3p24.3 2014-07-18 ENSG00000163576 ENSG00000163576 151651 EF-hand domain containing 26330 protein-coding gene gene with protein product cilia and flagella associated protein 21 NA NA 12477932 Standard NM_144715 NM_144715 NA Approved FLJ25200, CFAP21 uc003cbl.4 Q8N7U6 OTTHUMG00000150505 ENST00000344838.4:c.1113-103T>A chr3.hg19:g.19940440A>T NA A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6 hg19 0.02 4.218028 CTCxTAA COVERED NOVEL EFHB-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000318674.2 2 5.705134 KEEP 0 0 0 19 520 AA 0.99986 0.999859 0 - 58 60 1957 0 0 184.058646 74 60 2522 158 ENST00000344838.4 0.439394 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 28951350 28951350 __UNKNOWN__ IGR SNP A A G rs150971273 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:28951350A>G NA NA LINC00693 (151519 upstream) : AC097361.1 (101382 downstream) NA NA NA tgcccgcctcagcctcccaaa 0.468 NA NA G||| 99 0.0197684 0.0688 0.0115 5008 , , NA 16604 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.28951350A>G NA hg19 0.02 -0.052638 CTCxGCC UNCOVERED NOVEL 0 5 2.406965 KEEP 1 0 0 8 243 AA 0 0 0 2 38 72 0 0 6.495652 4 60 140 17 0.333333 0.036766 GOLGA4 2803 __UNKNOWN__ __UNKNOWN__ 3 37284810 37284810 __UNKNOWN__ De_novo_Start_OutOfFrame SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:37284810T>G ENST00000356847.4 + 0 68 GOLGA4_ENST00000444882.1_De_novo_Start_OutOfFrame|GOLGA4_ENST00000361924.2_De_novo_Start_OutOfFrame|RP11-259K5.2_ENST00000604992.1_RNA|GOLGA4_ENST00000435830.2_3'UTR NM_001172713.1 NP_001166184.1 Q13439 GOGA4_HUMAN golgin A4 NA NA Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) GTPase binding (GO:0051020) NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CGGGGCTGGATGGGGGGCCGA 0.697 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U31906 CCDS2666.1, CCDS54564.1 3p22-p21.3 2010-02-12 2010-02-12 ENSG00000144674 ENSG00000144674 2803 4427 protein-coding gene gene with protein product golgin 245 602509 golgi autoantigen, golgin subfamily a, 4 NA 8626529 Standard NM_002078 NM_002078 NA Approved GOLG, GCP2, p230, golgin-240 uc003cgw.3 Q13439 OTTHUMG00000130799 ENST00000356847.4:c.-232T>G chr3.hg19:g.37284810T>G NA F8W8Q7|Q13270|Q13654|Q14436|Q59EW8 hg19 CCDS54564.1 0.02 0.663543 GGAxGGG COVERED NOVEL GOLGA4-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000342257.2 2 3.966758 KEEP 0 2 18 20 546 TT 0.999879 0.991974 0 + 8 60 140 0 0 7.69183 54 60 1651 107 ENST00000356847.4 0.129032 0.992094 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37860534 37860534 __UNKNOWN__ 3'UTR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:37860534T>A ENST00000264741.5 + 0 3418 AC093415.2_ENST00000430620.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000608505.1_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000366441.2_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000438136.1_RNA NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TTGGTCTTTGTATCTTCCATA 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.*54T>A chr3.hg19:g.37860534T>A NA Q14638 hg19 CCDS2669.1 0.02 10.176977 TTGxATC COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 1 25.57346 KEEP 0 0 0 85 2569 TT 1 1 0 + 113 60 3841 1 0 355.760602 168 60 5467 427 ENST00000264741.5 0.402135 1 WDR48 57599 __UNKNOWN__ __UNKNOWN__ 3 39096749 39096749 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:39096749G>A ENST00000302313.5 + 1 76 WDR48_ENST00000418020.1_Intron|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Intron NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 NA NA double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032) intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634) breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) aggccaaggtgggcagatcac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF468833 CCDS33738.1 3p21.33 2014-06-16 ENSG00000114742 ENSG00000114742 57599 WD repeat domain containing 30914 protein-coding gene gene with protein product 612167 NA 10819331, 12196293, 24482476 Standard NM_020839 NM_020839 NA Approved KIAA1449, P80, SPG60 uc003cit.3 Q8TAF3 OTTHUMG00000155972 ENST00000302313.5:c.48+3185G>A chr3.hg19:g.39096749G>A NA B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279 hg19 CCDS33738.1 0.02 -0.043862 GGTxGGC UNCOVERED NOVEL WDR48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342529.1 4 2.70872 KEEP 2 0 0 9 310 GG 0 0 0 + 2 22 71 0 0 6.850095 2 60 69 20 ENST00000302313.5 0.5 0.024074 ZNF621 285268 __UNKNOWN__ __UNKNOWN__ 3 40575524 40575524 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:40575524C>A ENST00000339296.5 + 0 2715 ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_3'UTR|ZNF621_ENST00000490457.1_Intron NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) TTTCTTTTAACTTTTATTTCG 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK127181 CCDS2693.1, CCDS74920.1 3p21.33 2013-01-08 ENSG00000172888 ENSG00000172888 285268 Zinc fingers, C2H2-type, - 24787 protein-coding gene gene with protein product NA NA Standard NM_198484 XM_005265079 NA Approved FLJ45246 uc003ckm.2 Q6ZSS3 OTTHUMG00000131389 ENST00000339296.5:c.*943C>A chr3.hg19:g.40575524C>A NA Q14DC7|Q8TE91 hg19 CCDS2693.1 0.02 1.807308 TAAxTTT COVERED NOVEL ZNF621-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254178.2 1 3.61188 KEEP 0 0 0 12 432 CC 0.993634 0.993439 0 + 26 60 888 0 0 77.858932 63 60 2299 117 ENST00000339296.5 0.292135 0.999804 SEC22C 9117 __UNKNOWN__ __UNKNOWN__ 3 42592327 42592327 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:42592327G>A ENST00000273156.7 - 7 921 SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000417572.1_Intron NM_004206.3|NM_032970.3 NP_004197.1|NP_116752.1 Q9BRL7 SC22C_HUMAN SEC22 vesicle trafficking protein homolog C (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) CATAGGAAAAGAAAACAGTCC 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039568 CCDS2699.1, CCDS2700.1, CCDS56246.1 3p24.3-p22.1 2006-04-25 2006-04-25 2006-04-25 ENSG00000093183 ENSG00000093183 9117 16828 protein-coding gene gene with protein product 604028 SEC22 vesicle trafficking protein-like 3 (S. cerevisiae) SEC22L3 NA 9501016, 11001058 Standard NM_004206 NM_004206 NA Approved MGC13261, MGC5373 uc003clj.3 Q9BRL7 OTTHUMG00000131797 ENST00000273156.7:c.712-2178C>T chr3.hg19:g.42592327G>A NA O95152|Q68CX3|Q6UW18 hg19 CCDS2699.1 0.02 1.494466 AAAxAAA COVERED NOVEL SEC22C-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000254733.1 3 2.765078 KEEP 0 1 10 13 438 GG 0.995343 0.99105 0 - 6 60 148 0 0 8.924291 61 60 2095 101 ENST00000273156.7 0.089552 0.995687 EXOSC7 23016 __UNKNOWN__ __UNKNOWN__ 3 45017697 45017697 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:45017697T>G ENST00000461361.1 + 1 236 NR_023353.1 Q15024 EXOS7_HUMAN exosome component 7 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364) cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634) 3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723) endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) CGGGGGGGGGTGGGACGTGGG 0.761 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC012831 CCDS2725.1 3p21.32 2010-05-07 ENSG00000075914 ENSG00000075914 23016 3.1.13.- 28112 protein-coding gene gene with protein product 606488 NA 11719186, 11812149 Standard NM_015004 NR_023353 NA Approved hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8 uc003coi.2 Q15024 OTTHUMG00000133095 ENST00000461361.1:c.236+729T>G chr3.hg19:g.45017697T>G NA Q96E72 hg19 0.02 -0.265761 GGGxGGG COVERED NOVEL EXOSC7-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000346981.1 0 4.086556 KEEP 0 1 5 16 306 TT 0.999366 0.716861 0 + 6 60 116 0 0 7.996324 25 60 597 53 ENST00000461361.1 0.193548 0.717315 LTF 4057 __UNKNOWN__ __UNKNOWN__ 3 46480701 46480701 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:46480701T>G ENST00000417439.1 - 15 1903 LTF_ENST00000426532.2_Intron|LTF_ENST00000493056.1_Intron|LTF_ENST00000231751.4_Intron P02788 TRFL_HUMAN lactotransferrin NA NA antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581) DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) GAGGATCGAGTGGGCTGGTGC 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33747.1, CCDS56251.1 3p21.31 2012-10-02 ENSG00000012223 ENSG00000012223 4057 6720 protein-coding gene gene with protein product 150210 NA 17476971, 3356163 Standard NM_002343 NM_001199149 NA Approved HLF2 uc003cpq.3 P02788 OTTHUMG00000156325 ENST00000417439.1:c.1902+85A>C chr3.hg19:g.46480701T>G NA A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5 hg19 0.02 1.982955 GAGxGGG COVERED NOVEL LTF-003 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000343953.1 0 2.705898 KEEP 0 0 0 9 240 TT 0.99254 0.988801 0 - 28 60 900 0 0 83.123221 41 60 1263 84 ENST00000417439.1 0.405797 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 48413696 48413696 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:48413696C>A NA NA SPINK8 (43865 upstream) : FBXW12 (12 downstream) NA NA NA TGTGGAGAAGCCAGCTTGGCA 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.48413696C>A NA hg19 0.02 1.882719 AAGxCAG COVERED NOVEL 0 2 4.735475 KEEP 0 2 19 23 744 CC 0.999931 0.999931 0 13 60 206 0 0 8.857367 128 60 3257 191 0.092199 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 48754885 48754885 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:48754885G>C NA NA IP6K2 (174 upstream) : PRKAR2A (29126 downstream) NA NA NA CGGTTGGGTGGATAGACTAGC 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.48754885G>C NA hg19 0.02 -0.096504 GTGxATA UNCOVERED NOVEL 0 0 2.40781 KEEP 0 0 0 8 277 GG 0.99257 0.119541 0 6 60 219 0 0 21.470702 5 60 184 26 0.545455 0.120436 QRICH1 54870 __UNKNOWN__ __UNKNOWN__ 3 49083712 49083712 __UNKNOWN__ Intron SNP C C A rs373319042 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:49083712C>A ENST00000395443.2 - 5 2144 QRICH1_ENST00000357496.2_Intron|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Intron NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 NA NA nucleus (GO:0005634) breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) aaaaaaaaaaCAACAAATGTG 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2787.1 3p21.31 2011-06-03 ENSG00000198218 ENSG00000198218 54870 24713 protein-coding gene gene with protein product NA NA 12477932 Standard NM_017730 NM_017730 NA Approved FLJ20259 uc003cvv.3 Q2TAL8 OTTHUMG00000156772 ENST00000395443.2:c.1671+145G>T chr3.hg19:g.49083712C>A NA Q4G0F7|Q7L621|Q8TEA5 hg19 CCDS2787.1 0.02 -0.362699 AAAxAAC UNCOVERED NOVEL QRICH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345669.1 2 2.355527 KEEP 1 0 0 8 182 CC 0 0 0 - 4 60 112 0 0 7.450899 37 60 962 60 ENST00000395443.2 0.097561 0.899314 TCTA 6988 __UNKNOWN__ __UNKNOWN__ 3 49449735 49449735 __UNKNOWN__ De_novo_Start_OutOfFrame SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:49449735A>T ENST00000273590.3 + 0 97 RHOA_ENST00000265538.3_Intron NM_022171.2 NP_071503.1 P57738 TCTA_HUMAN T-cell leukemia translocation altered NA NA integral component of membrane (GO:0016021) large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTCTTCACGCACGCGAAGTAG 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA CCDS2796.1 3p21 2012-02-27 2012-02-27 ENSG00000145022 ENSG00000145022 6988 11692 protein-coding gene gene with protein product 600690 T-cell leukemia translocation altered gene NA 7728759 Standard NM_022171 NM_022171 NA Approved uc003cwv.4 P57738 OTTHUMG00000156846 ENST00000273590.3:c.-125A>T chr3.hg19:g.49449735A>T NA B2R4I4|Q6I9U4|Q9BSB0 hg19 CCDS2796.1 0.02 20.281463 CGCxCGC COVERED NOVEL TCTA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346210.1 4 70.91163 KEEP 0 0 0 236 7014 AA 1 1 0 + 181 60 6341 0 0 582.329382 299 60 10002 980 ENST00000273590.3 0.377083 1 AMT 275 __UNKNOWN__ __UNKNOWN__ 3 49459953 49459953 __UNKNOWN__ 5'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:49459953C>G ENST00000273588.3 - 0 233 AMT_ENST00000538581.1_5'UTR|AMT_ENST00000395338.2_5'UTR|AMT_ENST00000476226.1_5'UTR NM_000481.3 NP_000472.2 P48728 GCST_HUMAN aminomethyltransferase NA NA glycine catabolic process (GO:0006546) mitochondrion (GO:0005739) aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Tetrahydrofolic acid(DB00116) GAGATGTAGTCCAGGCCTCTG 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D13811 CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1 3p21.2-p21.1 2014-09-17 2006-05-22 ENSG00000145020 ENSG00000145020 275 2.1.2.10 473 protein-coding gene gene with protein product glycine cleavage system protein T 238310 aminomethyltransferase (glycine cleavage system protein T) NA 1993704, 8188235 Standard NM_000481 NM_000481 NA Approved GCST, NKH uc003cww.3 P48728 OTTHUMG00000156847 ENST00000273588.3:c.-70G>C chr3.hg19:g.49459953C>G NA A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6 hg19 CCDS2797.1 0.02 4.400438 AGTxCAG COVERED NOVEL AMT-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346216.2 0 9.329415 KEEP 0 0 0 31 1036 CC 0.999997 0.999997 0 - 61 60 2116 0 0 200.536378 73 60 2528 179 ENST00000273588.3 0.455224 1 MST1 4485 __UNKNOWN__ __UNKNOWN__ 3 49723881 49723881 __UNKNOWN__ Missense_Mutation SNP G G C rs6777426 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:49723881G>C ENST00000449682.2 - 8 1242 c.881C>G c.(880-882)aCt>aGt p.T294S MST1_ENST00000383728.3_Missense_Mutation_p.T219S|MST1_ENST00000545762.1_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 280 Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}. NA embryo implantation (GO:0007566)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) extracellular vesicular exosome (GO:0070062) serine-type endopeptidase activity (GO:0004252) p.T280S(1) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCAGCTGACAGTTGTGGCCTC 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(110;181 1524 8005 22865 46297) NA NA 1 Substitution - Missense(1) skin(1) 33 36 35 NA NA NA 3 NA NA 49723881 2201 4298 6499 SO:0001583 missense M74178 CCDS33757.2 3p21 2008-09-05 ENSG00000173531 ENSG00000173531 4485 7380 protein-coding gene gene with protein product hepatocyte growth factor-like protein homolog 142408 D3F15S2, HGFL, DNF15S2 NA 2902784, 8393443 Standard NM_020998 NM_020998 NA Approved MSP, NF15S2 uc003cxg.3 P26927 OTTHUMG00000155918 ENST00000449682.2:c.881C>G chr3.hg19:g.49723881G>C ENSP00000414287:p.Thr294Ser NA A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4 hg19 CCDS33757.2 0.02 -0.315835 ACAxTTG COVERED . . . . . . . . . . G 23.4 4.417297 0.83449 . . ENSG00000173531 ENST00000449682;ENST00000383728 D;T 0.87887 -2.31;-0.48 5.67 4.75 0.60458 Kringle (1); 0.339887 0.21177 N 0.078900 T 0.81545 0.4845 L 0.33137 0.985 0.80722 D 1 B;B 0.06786 0.0;0.001 B;B 0.06405 0.001;0.002 T 0.77723 -0.2481 10 0.54805 T 0.06 . 14.5452 0.68024 0.0:0.0:0.8533:0.1467 rs6777426 280;294 P26927;G3XAK1 HGFL_HUMAN;. S 294;219 ENSP00000414287:T294S;ENSP00000373234:T219S ENSP00000373234:T219S T - 2 0 MST1 49698885 1.000000 0.71417 0.025000 0.17156 0.854000 0.48673 6.531000 0.73820 2.673000 0.90976 0.655000 0.94253 ACT NOVEL MST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342315.3 0 3.310719 KEEP 0 0 0 11 385 GG 0.993072 0.812795 0 - 6 36 212 0 0 17.019133 30 60 1110 61 ENST00000449682.2 0.166667 0.818465 CADPS 8618 __UNKNOWN__ __UNKNOWN__ 3 62611076 62611076 __UNKNOWN__ Intron SNP A A G rs13061251 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:62611076A>G ENST00000383710.4 - 6 1675 CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron|CADPS_ENST00000490353.2_3'UTR NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator NA NA catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202) lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) acacacacacacacacgcaca 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U36448 CCDS2898.1, CCDS2899.1, CCDS46858.1 3p21.1 2013-01-10 2008-08-28 ENSG00000163618 ENSG00000163618 8618 Pleckstrin homology (PH) domain containing 1426 protein-coding gene gene with protein product 604667 NA 1516133 Standard NM_003716, NM_183393, NM_183394 NM_183393 NA Approved CAPS, KIAA1121, CAPS1 uc003dll.2 Q9ULU8 OTTHUMG00000158651 ENST00000383710.4:c.1325+20320T>C chr3.hg19:g.62611076A>G NA A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2 hg19 CCDS46858.1 0.02 1.988422 CACxCAC COVERED NOVEL CADPS-013 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351951.5 0 5.114947 KEEP 0 0 0 17 515 AA 0.999366 0.981333 0 - 5 60 167 1 0 11.732788 52 60 1725 80 ENST00000383710.4 0.087719 0.981955 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679944 75679944 __UNKNOWN__ RNA SNP C C T rs7614638 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75679944C>T ENST00000408868.1 + 0 31 NR_031714.1 microRNA 1324 NA NA NA CTGGTCCTGCCCTCACTGGGA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 48 51 50 NA NA NA 3 NA NA 75679944 1568 3576 5144 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro NA MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679944C>T NA hg19 0.02 36.215368 TGCxCTC COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 0 8.695631 KEEP 34 2 60 50 1645 CC 1 1 0 + 89 50 3141 1 0 267.462713 285 50 9820 1059 ENST00000408868.1 0.237968 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679945 75679945 __UNKNOWN__ RNA SNP C C G rs201625997 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75679945C>G ENST00000408868.1 + 0 32 NR_031714.1 microRNA 1324 NA NA NA TGGTCCTGCCCTCACTGGGAA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 50 53 52 NA NA NA 3 NA NA 75679945 1568 3578 5146 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro NA MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679945C>G NA hg19 0.02 31.097858 GCCxTCA COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 0 5.285653 KEEP 32 2 64 40 1322 CT 1 1 0 + 32 49 1017 1 0 69.788351 336 50 11800 1062 ENST00000408868.1 0.086957 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679963 75679963 __UNKNOWN__ RNA SNP C C T rs201125883 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75679963C>T ENST00000408868.1 + 0 50 NR_031714.1 microRNA 1324 NA NA NA GAACCCCCTTCCCTCTGGGTA 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 66 67 67 NA NA NA 3 NA NA 75679963 1568 3578 5146 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro NA MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679963C>T NA hg19 0.02 33.626114 CTTxCCT COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 3 7.11406 KEEP 30 5 125 68 2263 CC 1 1 0 + 31 54 1053 0 0 73.931991 337 55 12036 1092 ENST00000408868.1 0.084239 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679979 75679979 __UNKNOWN__ RNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75679979C>T ENST00000408868.1 + 0 66 NR_031714.1 microRNA 1324 NA NA NA GGGTACCAGACAGAATTCTAT 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 86 83 84 NA NA NA 3 NA NA 75679979 1568 3578 5146 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro NA MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679979C>T NA hg19 0.02 27.452725 AGAxAGA COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 2 16.955278 KEEP 13 3 84 86 2939 CC 1 1 0 + 19 43 607 0 0 36.229644 400 60 14260 1113 ENST00000408868.1 0.045346 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679993 75679993 __UNKNOWN__ RNA SNP C C T rs202177109 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75679993C>T ENST00000408868.1 + 0 80 NR_031714.1 microRNA 1324 NA NA NA ATTCTATGCACTTTCCTGGAG 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 61 61 NA NA NA 3 NA NA 75679993 1568 3575 5143 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro NA MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679993C>T NA hg19 0.02 32.466965 GCAxTTT COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 4 14.110703 KEEP 21 5 160 103 3542 CC 1 1 0 + 32 60 1120 0 0 77.360494 412 60 14669 1138 ENST00000408868.1 0.072072 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75680006 75680006 __UNKNOWN__ RNA SNP T T C rs58827088 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75680006T>C ENST00000408868.1 + 0 93 NR_031714.1 microRNA 1324 NA NA NA TCCTGGAGGCTCCATGCTGGT 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 50 51 NA NA NA 3 NA NA 75680006 1568 3573 5141 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro NA MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75680006T>C NA hg19 0.02 33.069037 GGCxCCA COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 7 20.084694 KEEP 22 4 135 114 3520 TT 1 1 0 + 30 60 1017 0 0 67.152985 456 60 15808 1165 ENST00000408868.1 0.061728 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75680148 75680148 __UNKNOWN__ IGR SNP A A C rs62246642 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75680148A>C NA NA MIR1324 (139 upstream) : FRG2C (33332 downstream) NA NA NA GGCTGGAACAAGGACCTGTGG 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.75680148A>C NA hg19 0.02 8.733344 ACAxGGA COVERED NOVEL 0 1 2.338296 KEEP 95 1 29 18 513 AA 0.993634 0.993634 0 26 49 721 0 0 51.556268 169 50 5938 407 0.133333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75681075 75681075 __UNKNOWN__ IGR SNP G G A rs62246651 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75681075G>A NA NA MIR1324 (1066 upstream) : FRG2C (32405 downstream) NA NA NA CTCCCTGGGGGTGTGCTCTGC 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.75681075G>A NA hg19 0.02 1.93556 GGGxTGT COVERED NOVEL 0 3 3.00984 KEEP 3 0 0 10 354 GG 0.99254 0.984693 0 3 51 100 0 1 8.943302 6 60 214 105 0.333333 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75691718 75691718 __UNKNOWN__ IGR SNP T T C rs151337419 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75691718T>C NA NA MIR1324 (11709 upstream) : FRG2C (21762 downstream) NA NA NA agtcagaacatgcttactata 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.75691718T>C NA hg19 0.02 10.239481 ACAxGCT COVERED NOVEL 0 0 5.985333 KEEP 1 2 60 41 1261 TT 1 1 0 14 60 450 0 0 34.648047 78 60 2735 364 0.152174 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75692896 75692896 __UNKNOWN__ IGR SNP C C T rs62248974 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75692896C>T NA NA MIR1324 (12887 upstream) : FRG2C (20584 downstream) NA NA NA cactgaaacacccctgggatg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.75692896C>T NA hg19 0.02 5.711522 ACAxCCC COVERED NOVEL 0 2 8.123259 KEEP 12 0 0 27 907 CC 0.999909 0.999909 0 11 60 384 0 0 28.179139 98 60 3394 253 0.100917 1 FRG2C 100288801 __UNKNOWN__ __UNKNOWN__ 3 75714895 75714895 __UNKNOWN__ Silent SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75714895G>A ENST00000464571.1 + 4 599 c.549G>A c.(547-549)tcG>tcA p.S183S FRG2C_ENST00000308062.3_Silent_p.S184S A6NGY1 FRG2C_HUMAN FSHD region gene 2 family, member C 184 NA nucleus (GO:0005634) breast(2)|ovary(1) 3 GAGCTATGTCGGAGGCTGTTT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS43108.1 3p12.3 2009-11-25 ENSG00000172969 ENSG00000172969 100288801 33626 protein-coding gene gene with protein product NA NA Standard NM_001124759.1 NM_001124759 NA Approved A6NGY1 OTTHUMG00000158963 ENST00000464571.1:c.549G>A chr3.hg19:g.75714895G>A NA hg19 0.02 32.46028 GTCxGAG COVERED NOVEL FRG2C-002 NOVEL NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000352695.1 4 19.371442 KEEP 20 4 127 109 3541 GG 1 1 0 + 33 40 1111 0 0 75.077864 439 60 15054 1081 ENST00000464571.1 0.069915 1 FRG2C 100288801 __UNKNOWN__ __UNKNOWN__ 3 75715033 75715033 __UNKNOWN__ Silent SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75715033T>C ENST00000464571.1 + 4 737 c.687T>C c.(685-687)acT>acC p.T229T FRG2C_ENST00000308062.3_Silent_p.T230T A6NGY1 FRG2C_HUMAN FSHD region gene 2 family, member C 230 NA nucleus (GO:0005634) breast(2)|ovary(1) 3 CCATGGCCACTCAGGCAGCTT 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 3 NA NA 75715033 56 208 264 SO:0001819 synonymous_variant CCDS43108.1 3p12.3 2009-11-25 ENSG00000172969 ENSG00000172969 100288801 33626 protein-coding gene gene with protein product NA NA Standard NM_001124759.1 NM_001124759 NA Approved A6NGY1 OTTHUMG00000158963 ENST00000464571.1:c.687T>C chr3.hg19:g.75715033T>C NA hg19 0.02 8.295404 CACxCAG COVERED NOVEL FRG2C-002 NOVEL NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000352695.1 0 4.212854 KEEP 7 0 0 14 442 TT 0.995343 0.995343 0 + 39 58 1271 0 0 100.401515 190 60 6433 272 ENST00000464571.1 0.170306 1 FRG2C 100288801 __UNKNOWN__ __UNKNOWN__ 3 75715843 75715843 __UNKNOWN__ 3'UTR SNP G G A rs118102910 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75715843G>A ENST00000464571.1 + 0 1547 FRG2C_ENST00000308062.3_3'UTR A6NGY1 FRG2C_HUMAN FSHD region gene 2 family, member C NA NA nucleus (GO:0005634) breast(2)|ovary(1) 3 CTTTTAATTCGGAAAAGGTTG 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43108.1 3p12.3 2009-11-25 ENSG00000172969 ENSG00000172969 100288801 33626 protein-coding gene gene with protein product NA NA Standard NM_001124759.1 NM_001124759 NA Approved A6NGY1 OTTHUMG00000158963 ENST00000464571.1:c.*651G>A chr3.hg19:g.75715843G>A NA hg19 0.02 12.187399 TTCxGAA COVERED NOVEL FRG2C-002 NOVEL NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000352695.1 3 5.250042 KEEP 0 1 30 28 908 GG 0.999997 0.999997 0 + 13 40 438 0 0 29.245126 186 60 6145 395 ENST00000464571.1 0.065327 1 FRG2C 100288801 __UNKNOWN__ __UNKNOWN__ 3 75716303 75716303 __UNKNOWN__ 3'UTR SNP T T A rs34204105 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75716303T>A ENST00000464571.1 + 0 2007 FRG2C_ENST00000308062.3_3'UTR A6NGY1 FRG2C_HUMAN FSHD region gene 2 family, member C NA NA nucleus (GO:0005634) breast(2)|ovary(1) 3 AAATAAACATTAATGTTGTTT 0.244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43108.1 3p12.3 2009-11-25 ENSG00000172969 ENSG00000172969 100288801 33626 protein-coding gene gene with protein product NA NA Standard NM_001124759.1 NM_001124759 NA Approved A6NGY1 OTTHUMG00000158963 ENST00000464571.1:c.*1111T>A chr3.hg19:g.75716303T>A NA hg19 0.02 16.096555 CATxAAT COVERED NOVEL FRG2C-002 NOVEL NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000352695.1 1 7.152668 KEEP 0 1 26 33 985 TT 0.999998 0.999998 0 + 22 60 749 0 0 51.662976 266 70 8827 490 ENST00000464571.1 0.076389 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75716422 75716422 __UNKNOWN__ IGR SNP A A G rs146113416 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75716422A>G NA NA FRG2C (51 upstream) : LINC00960 (7141 downstream) NA NA NA CCCACAGCCCACAGCTCTTGT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.75716422A>G NA hg19 0.02 6.0501 CCCxCAG COVERED NOVEL 0 1 2.406533 KEEP 0 0 0 8 230 AA 0.99257 0.99257 0 11 60 387 0 0 27.822586 113 60 3815 219 0.08871 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75745729 75745729 __UNKNOWN__ IGR SNP T T A rs141388613 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75745729T>A NA NA LINC00960 (19953 upstream) : ZNF717 (13064 downstream) NA NA NA tgcaaatcaatcaatgtgata 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.75745729T>A NA hg19 0.02 -0.166673 CAAxCAA COVERED NOVEL 0 5 3.308618 KEEP 0 0 0 11 318 GT 0.993634 0.351693 0 3 60 101 0 0 9.724824 3 60 107 39 0.5 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75745747 75745747 __UNKNOWN__ IGR SNP T T A rs139194252 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75745747T>A NA NA LINC00960 (19971 upstream) : ZNF717 (13046 downstream) NA NA NA atacatcacataaacagaatg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.75745747T>A NA hg19 0.02 -0.166684 ACAxAAA COVERED NOVEL 0 5 3.91144 KEEP 0 0 0 13 393 TT 0.994391 0.351961 0 2 60 68 0 0 6.924723 1 60 36 41 0.666667 0.353947 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75779860 75779860 __UNKNOWN__ Intron SNP G G A rs377262838 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75779860G>A ENST00000477374.1 - 6 511 ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 AGGATAACAAGGAACAAGTAC 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000477374.1:c.340-91C>T chr3.hg19:g.75779860G>A NA hg19 0.02 17.055649 CAAxGAA COVERED NOVEL ZNF717-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000352767.1 2 4.479392 KEEP 0 0 0 15 463 GG 0.99649 0.99649 0 - 21 60 737 0 0 52.079069 238 60 8154 432 ENST00000477374.1 0.081081 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75784242 75784242 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75784242T>C ENST00000477374.1 - 5 449 ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 tcccaaagtgttgggattaca 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000477374.1:c.278-2970A>G chr3.hg19:g.75784242T>C NA hg19 0.02 -0.184229 GTGxTGG COVERED NOVEL ZNF717-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000352767.1 5 2.694095 KEEP 0 0 0 9 246 TT 0.99254 0.420319 0 - 4 60 150 0 0 13.591404 8 60 277 40 ENST00000477374.1 0.333333 0.423478 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75784273 75784273 __UNKNOWN__ Intron SNP G G A rs200235430 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75784273G>A ENST00000477374.1 - 5 449 ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 aaggcacccagccaattacat 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000477374.1:c.278-3001C>T chr3.hg19:g.75784273G>A NA hg19 0.02 -0.20178 CCAxCCA COVERED NOVEL ZNF717-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000352767.1 6 2.708624 KEEP 0 0 0 9 303 GG 0.99254 0.486885 0 - 3 60 104 0 0 8.900832 9 60 330 38 ENST00000477374.1 0.25 0.490544 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786175 75786175 __UNKNOWN__ Nonsense_Mutation SNP C C A rs144353922 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75786175C>A ENST00000478296.1 - 4 2725 c.2449G>T c.(2449-2451)Gaa>Taa p.E817* ZNF717_ENST00000400845.3_Nonsense_Mutation_p.E860*|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000422325.1_Nonsense_Mutation_p.E867*|ZNF717_ENST00000477374.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 857 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TAAGGTTTTTCTCCTGTGTGT 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001587 stop_gained AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.2449G>T chr3.hg19:g.75786175C>A ENSP00000419377:p.Glu817* NA hg19 0.02 27.534842 TTTxTCC COVERED . . . . . . . . . . . 29.4 5.004714 0.93287 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 . . . 1.74 -3.48 0.04739 . . . . . . . . . . . 0.09310 P 0.99999887912 . . . . . . . . . . 0.59425 D 0.04 . 1.3868 0.02242 0.148:0.4061:0.1469:0.2989 . . . . X 817;867;860 . ENSP00000383643:E860X E - 1 0 ZNF717 75868865 0.748000 0.28294 0.000000 0.03702 0.000000 0.00434 2.108000 0.41854 -2.182000 0.00764 -2.768000 0.00120 GAA NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 5 2.789689 KEEP 0 7 183 74 2543 CC 1 1 0 - 20 60 683 0 0 40.164075 556 60 20234 970 ENST00000478296.1 0.034722 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786687 75786687 __UNKNOWN__ Missense_Mutation SNP A A T rs80214016 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:75786687A>T ENST00000478296.1 - 4 2213 c.1937T>A c.(1936-1938)cTc>cAc p.L646H ZNF717_ENST00000400845.3_Missense_Mutation_p.L689H|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000422325.1_Missense_Mutation_p.L696H|ZNF717_ENST00000477374.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 686 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCCCGGTGTGAGTTCTCTGAT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 4 4 NA NA NA 3 NA NA 75786687 576 1439 2015 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.1937T>A chr3.hg19:g.75786687A>T ENSP00000419377:p.Leu646His NA hg19 0.02 20.556056 GTGxGTT COVERED . . . . . . . . . . . 5.999 0.368292 0.11352 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.07688 3.17;3.33;3.32 1.63 -1.62 0.08372 . . . . . T 0.03959 0.0111 N 0.11756 0.17 0.09310 N 0.999998 B 0.06786 0.001 B 0.04013 0.001 T 0.40534 -0.9558 9 0.72032 D 0.01 . 2.2385 0.04014 0.4226:0.0:0.338:0.2395 rs6668837;rs52802391;rs6668837 696 C9JSV9 . H 646;696;689 ENSP00000419377:L646H;ENSP00000409514:L696H;ENSP00000383643:L689H ENSP00000383643:L689H L - 2 0 ZNF717 75869377 0.001000 0.12720 0.003000 0.11579 0.001000 0.01503 -0.548000 0.06048 -0.465000 0.06953 -0.721000 0.03606 CTC NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 7 8.548076 KEEP 0 4 118 70 2195 AA 1 1 0 - 26 60 846 1 0 60.367246 233 60 8035 724 ENST00000478296.1 0.100386 1 ROBO2 6092 __UNKNOWN__ __UNKNOWN__ 3 77090178 77090178 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:77090178C>T ENST00000332191.8 + 1 117 ROBO2_ENST00000461745.1_Intron|ROBO2_ENST00000487694.3_Intron Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) NA NA apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657) axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTCTAAACTGCTGTAAGTGGA 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF040991 CCDS43109.1, CCDS54609.1 3p12.3 2013-02-11 2001-11-28 ENSG00000185008 ENSG00000185008 6092 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 10250 protein-coding gene gene with protein product 602431 roundabout (axon guidance receptor, Drosophila) homolog 2 NA 9458045 Standard XM_031246 NM_002942 NA Approved KIAA1568 uc003dpy.4 Q9HCK4 OTTHUMG00000158935 ENST00000332191.8:c.61+181C>T chr3.hg19:g.77090178C>T NA O43608|Q19AB4|Q19AB5 hg19 0.02 2.153162 CTGxTGT COVERED NOVEL ROBO2-003 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000352601.1 1 2.407695 KEEP 0 0 0 8 270 CC 0.99257 0.98219 0 + 14 60 485 0 0 40.917902 47 60 1681 71 ENST00000332191.8 0.229508 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 94224542 94224542 __UNKNOWN__ IGR SNP T T C rs2885079 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:94224542T>C NA NA NSUN3 (377153 upstream) : LINC00879 (432564 downstream) NA NA NA TCTGTCAATATATAAGCATTT 0.343 NA NA -||| 4725 0.94349 0.8116 0.9899 5008 , , NA 11424 0.9821 NA 0.992 False NA ,,, NA NA NA 2504 0.999 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.94224542T>C NA hg19 0.02 2.323625 ATAxATA COVERED NOVEL 0 2 2.707662 KEEP 0 0 0 9 264 TT 0.99254 0.963578 0 26 43 914 0 0 87.776657 27 60 916 69 0.490566 0.97082 ARHGAP31 57514 __UNKNOWN__ __UNKNOWN__ 3 119133963 119133963 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:119133963C>T ENST00000264245.4 + 12 3719 c.3187C>T c.(3187-3189)Cct>Tct p.P1063S NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1063 NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027) GTPase activator activity (GO:0005096) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AGGTGGTGTTCCTGGGCCAGA 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(7;176 297 5394 51128 51241) NA NA 0 148 164 158 NA NA NA 3 NA NA 119133963 2144 4261 6405 SO:0001583 missense CCDS43135.1 3q13.33 2011-06-29 ENSG00000031081 ENSG00000031081 57514 Rho GTPase activating proteins 29216 protein-coding gene gene with protein product 610911 NA 9786927, 12819203, 16519628 Standard NM_020754 NA Approved CDGAP uc003ecj.4 Q2M1Z3 OTTHUMG00000159362 ENST00000264245.4:c.3187C>T chr3.hg19:g.119133963C>T ENSP00000264245:p.Pro1063Ser NA Q9ULL6 hg19 CCDS43135.1 0.02 12.215171 GTTxCTG COVERED . . . . . . . . . . C 2.172 -0.389650 0.04932 . . ENSG00000031081 ENST00000264245 T 0.05717 3.4 5.39 -0.961 0.10337 . 0.468220 0.18045 N 0.153477 T 0.03434 0.0099 N 0.19112 0.55 0.09310 N 1 B 0.06786 0.001 B 0.06405 0.002 T 0.47129 -0.9141 10 0.12766 T 0.61 . 8.8642 0.35276 0.0:0.3925:0.0:0.6075 . 1063 Q2M1Z3 RHG31_HUMAN S 1063 ENSP00000264245:P1063S ENSP00000264245:P1063S P + 1 0 ARHGAP31 120616653 0.000000 0.05858 0.001000 0.08648 0.719000 0.41307 0.038000 0.13862 -0.078000 0.12730 0.655000 0.94253 CCT NOVEL ARHGAP31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354942.2 0 12.940388 KEEP 0 0 0 43 1448 CC 1 1 0 + 88 60 3020 0 0 262.274282 232 60 8033 442 ENST00000264245.4 0.275 1 PLA1A 51365 __UNKNOWN__ __UNKNOWN__ 3 119328263 119328263 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:119328263A>T ENST00000488919.1 + 3 290 PLA1A_ENST00000273371.4_Intron|PLA1A_ENST00000495992.1_Intron|PLA1A_ENST00000494440.1_Intron NM_001206961.1 NP_001193890.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A NA NA lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658) extracellular vesicular exosome (GO:0070062) phosphatidylcholine 1-acylhydrolase activity (GO:0008970) NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCCACTGTGAAGCCAGCAGA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 73 68 70 NA NA NA 3 NA NA 119328263 876 1991 2867 SO:0001627 intron_variant AF035268 CCDS2991.1, CCDS56268.1, CCDS56269.1 3q13.13-q13.2 2002-11-28 ENSG00000144837 ENSG00000144837 51365 17661 protein-coding gene gene with protein product 607460 NA 10196188 Standard NM_015900 NA Approved ps-PLA1 uc003ecu.3 Q53H76 OTTHUMG00000159425 ENST00000488919.1:c.-66-52A>T chr3.hg19:g.119328263A>T NA B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2 hg19 CCDS56269.1 0.02 5.543623 GTGxAGC COVERED NOVEL PLA1A-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000355253.2 0 11.733403 KEEP 0 0 0 39 1199 AA 1 1 0 + 59 60 1915 0 0 169.362548 126 60 4282 270 ENST00000488919.1 0.318919 1 FBXO40 51725 __UNKNOWN__ __UNKNOWN__ 3 121339446 121339446 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:121339446G>T ENST00000338040.4 + 2 417 NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 NA NA muscle cell differentiation (GO:0042692) cytoplasm (GO:0005737) ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GGAGCTTATTGAAGCTTCACC 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 119 102 108 NA NA NA 3 NA NA 121339446 2203 4300 6503 SO:0001627 intron_variant AF204674 CCDS33835.1 3q21.1 2004-08-24 ENSG00000163833 ENSG00000163833 51725 F-boxes / other 29816 protein-coding gene gene with protein product 609107 NA 10574462 Standard NM_016298 NM_016298 NA Approved KIAA1195, Fbx40 uc003eeg.2 Q9UH90 OTTHUMG00000159410 ENST00000338040.4:c.3+21G>T chr3.hg19:g.121339446G>T NA B2RAX7|Q32M70|Q9ULM5 hg19 CCDS33835.1 0.02 27.578712 ATTxAAG COVERED NOVEL FBXO40-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355158.1 3 18.057934 KEEP 0 0 0 60 2054 GG 1 1 0 + 178 60 6150 0 0 530.552418 499 60 18472 986 ENST00000338040.4 0.262925 1 PDIA5 10954 __UNKNOWN__ __UNKNOWN__ 3 122786097 122786097 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:122786097T>C ENST00000316218.7 + 1 137 NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756) breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) AGCACGTGTGTCCCGCGTGCC 0.746 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 11 13 12 NA NA NA 3 NA NA 122786097 1675 3039 4714 SO:0001627 intron_variant AK054963 CCDS3020.1 3q21.1 2009-11-20 2005-06-29 ENSG00000065485 ENSG00000065485 10954 5.3.4.1 Protein disulfide isomerases 24811 protein-coding gene gene with protein product NA protein disulfide isomerase-associated 5 NA 7556671 Standard NM_006810 NM_006810 NA Approved PDIR, FLJ30401 uc003egc.2 Q14554 OTTHUMG00000159558 ENST00000316218.7:c.42+44T>C chr3.hg19:g.122786097T>C NA D3DN95|Q9BV43 hg19 CCDS3020.1 0.02 2.035784 GTGxCCC COVERED NOVEL PDIA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356192.1 0 4.813684 KEEP 0 0 0 16 485 TT 0.997832 0.989943 0 + 20 60 682 0 0 60.650093 43 60 1372 101 ENST00000316218.7 0.31746 0.992094 RP11-379B18.6 0 __UNKNOWN__ __UNKNOWN__ 3 125516687 125516687 __UNKNOWN__ lincRNA SNP T T C rs371835677 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:125516687T>C ENST00000610060.1 + 0 264 NA NA NA GTGCTTGAGATGCAAGAGACT 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610060.1: chr3.hg19:g.125516687T>C NA hg19 0.02 4.182436 AGAxGCA COVERED NOVEL RP11-379B18.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000471880.1 0 2.407202 KEEP 3 0 0 8 246 TT 0.99257 0.99257 0 + 13 28 457 0 0 33.287973 123 60 4349 208 ENST00000610060.1 0.095588 1 GP9 2815 __UNKNOWN__ __UNKNOWN__ 3 128780503 128780503 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:128780503C>A ENST00000307395.4 + 2 210 NM_000174.3 NP_000165.1 P14770 GPIX_HUMAN glycoprotein IX (platelet) NA NA blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) GCTACATCCCCAGTGCTTGCC 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3055.1 3q21.3 2014-09-17 ENSG00000169704 2815 CD molecules 4444 protein-coding gene gene with protein product 173515 NA 2253772 Standard XM_005247374 NA Approved CD42a, GPIX uc003elm.2 P14770 ENST00000307395.4:c.-13+41C>A chr3.hg19:g.128780503C>A NA Q14445|Q8N1D1|Q92525 hg19 CCDS3055.1 0.02 3.900714 CCCxAGT COVERED NOVEL GP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358428.1 0 4.81565 KEEP 0 0 0 16 563 CC 0.997832 0.997831 0 + 30 60 1028 0 0 86.169946 104 60 3698 188 ENST00000307395.4 0.223881 1 COPG1 22820 __UNKNOWN__ __UNKNOWN__ 3 128974932 128974932 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:128974932G>C ENST00000314797.6 + 8 618 c.514G>C c.(514-516)Gac>Cac p.D172H NM_016128.3 NP_057212.1 Q9Y678 COPG1_HUMAN coatomer protein complex, subunit gamma 1 172 NA COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139) structural molecule activity (GO:0005198) NA GTGCAGCTTTGACGTGGTCAA 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 164 139 147 NA NA NA 3 NA NA 128974932 2203 4300 6503 SO:0001583 missense AB047846 CCDS33851.1 3q21.3 2012-02-23 2012-02-23 2012-02-23 ENSG00000181789 ENSG00000181789 22820 2236 protein-coding gene gene with protein product coat protein gamma-cop 615525 coatomer protein complex, subunit gamma COPG NA 11056392 Standard NM_016128 NM_016128 NA Approved uc003els.3 Q9Y678 OTTHUMG00000159451 ENST00000314797.6:c.514G>C chr3.hg19:g.128974932G>C ENSP00000325002:p.Asp172His NA A8K6M8|B3KMF6|Q54AC4 hg19 CCDS33851.1 0.02 9.255362 TTTxACG COVERED . . . . . . . . . . G 23.1 4.369754 0.82573 . . ENSG00000181789 ENST00000314797 T 0.16196 2.36 4.18 4.18 0.49190 Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1); 0.147776 0.45361 D 0.000369 T 0.47563 0.1452 M 0.88031 2.925 0.53688 D 0.99997 D 0.76494 0.999 D 0.87578 0.998 T 0.58301 -0.7660 10 0.87932 D 0 -1.0189 14.0905 0.64987 0.0:0.0:1.0:0.0 . 172 Q9Y678 COPG_HUMAN H 172 ENSP00000325002:D172H ENSP00000325002:D172H D + 1 0 COPG 130457622 1.000000 0.71417 0.961000 0.40146 0.993000 0.82548 9.156000 0.94705 2.176000 0.68965 0.585000 0.79938 GAC NOVEL COPG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355456.1 1 4.51455 KEEP 0 0 0 15 521 GG 0.99649 0.99649 0 + 29 60 1069 0 0 83.743068 187 60 6819 258 ENST00000314797.6 0.134259 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 129849847 129849847 __UNKNOWN__ IGR SNP C C A rs56312715 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:129849847C>A NA NA RP11-77P16.4 (10425 upstream) : AC130888.1 (52518 downstream) NA NA NA gtaatcccagcactttgggag 0.488 NA NA c||| 1527 0.304912 0.2005 0.3559 5008 , , NA 17839 0.248 NA 0.4155 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.129849847C>A NA hg19 0.02 -0.052637 CAGxACT UNCOVERED NOVEL 0 6 2.708815 KEEP 7 0 0 9 319 CC 0 0 0 3 47 100 0 0 9.62478 3 25 115 23 0.5 0.036766 ATP2C1 27032 __UNKNOWN__ __UNKNOWN__ 3 130683838 130683838 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:130683838G>T ENST00000510168.1 + 14 1621 c.1071G>T c.(1069-1071)aaG>aaT p.K357N ATP2C1_ENST00000359644.3_Missense_Mutation_p.K357N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.K352N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.K341N|ATP2C1_ENST00000507488.2_Missense_Mutation_p.K341N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.K357N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.K341N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.K391N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.K302N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.K357N|ATP2C1_ENST00000328560.8_Missense_Mutation_p.K357N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.K341N|ATP2C1_ENST00000508532.1_Missense_Mutation_p.K357N P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 357 NA actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CACTGACGAAGAATGAAATGA 0.328 NA NA Hailey-Hailey disease NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(99;456 1443 27647 34099 42636) NA NA 0 156 142 147 NA NA NA 3 NA NA 130683838 2203 4299 6502 SO:0001583 missense Familial Cancer Database HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus AF181120 CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1 3q21.3 2012-10-22 ENSG00000017260 ENSG00000017260 27032 3.6.3.8 ATPases / P-type 13211 protein-coding gene gene with protein product secretory pathway Ca2+/Mn2+ ATPase 1, calcium-transporting ATPase type 2C member 1 604384 benign chronic pemphigus (Hailey-Hailey disease) BCPM NA 10615129, 10767338 Standard NM_001001486 NM_001001485 NA Approved KIAA1347, ATP2C1A, PMR1, SPCA1 uc011bli.2 P98194 OTTHUMG00000136802 ENST00000510168.1:c.1071G>T chr3.hg19:g.130683838G>T ENSP00000427461:p.Lys357Asn NA B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7 hg19 CCDS46914.1 0.02 8.014862 GAAxAAT COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 14.55|14.55 2.569089|2.569089 0.45798|0.45798 .|. .|. ENSG00000017260|ENSG00000017260 ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421;ENST00000515854|ENST00000504612 D;D;D;D;D;D;D;D;D;D;D;D;D;D|. 0.95885|. -3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-1.69|. 5.53|5.53 3.71|3.71 0.42584|0.42584 ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.79393|0.79393 0.4438|0.4438 M|M 0.92649|0.92649 3.33|3.33 0.80722|0.80722 D|D 1|1 P;P;B;P;B;B;B|. 0.36733|. 0.511;0.567;0.218;0.511;0.218;0.079;0.097|. B;B;B;B;B;B;B|. 0.41764|. 0.251;0.366;0.201;0.251;0.201;0.16;0.248|. T|T 0.82238|0.82238 -0.0556|-0.0556 10|5 0.66056|. D|. 0.02|. .|. 9.0144|9.0144 0.36161|0.36161 0.2225:0.0:0.7775:0.0|0.2225:0.0:0.7775:0.0 .|. 391;352;391;357;391;357;357|. G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|. .;.;.;.;.;.;AT2C1_HUMAN|. N|I 341;302;341;391;352;357;357;341;341;357;357;357;357;356;96|311 ENSP00000423774:K341N;ENSP00000425320:K302N;ENSP00000421326:K341N;ENSP00000376914:K391N;ENSP00000432956:K352N;ENSP00000427461:K357N;ENSP00000424783:K357N;ENSP00000423330:K341N;ENSP00000422872:K341N;ENSP00000329664:K357N;ENSP00000395809:K357N;ENSP00000352665:K357N;ENSP00000402677:K357N;ENSP00000422890:K96N|. ENSP00000329664:K357N|. K|R +|+ 3|2 2|0 ATP2C1|ATP2C1 132166528|132166528 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.994000|0.994000 0.84299|0.84299 3.848000|3.848000 0.55903|0.55903 1.452000|1.452000 0.47756|0.47756 0.561000|0.561000 0.74099|0.74099 AAG|AGA NOVEL ATP2C1-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356648.2 2 5.718539 KEEP 0 0 0 19 658 GG 0.99986 0.99986 0 + 30 60 1059 0 0 82.105089 191 60 6956 297 ENST00000510168.1 0.135747 1 CPNE4 131034 __UNKNOWN__ __UNKNOWN__ 3 131869449 131869449 __UNKNOWN__ Intron SNP C C G rs141723939|rs1851219|rs3071910 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:131869449C>G ENST00000512055.1 - 3 299 Q96A23 CPNE4_HUMAN copine IV NA NA extracellular vesicular exosome (GO:0070062) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 ctctctctctctgtgtgtgtg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant H29499 CCDS3072.1, CCDS75010.1 3q22.1 2014-09-04 ENSG00000196353 ENSG00000196353 131034 2317 protein-coding gene gene with protein product copine 8 604208 NA 9430674, 12670487 Standard NM_130808 XM_005247107 NA Approved COPN4, CPN4 uc003eok.3 Q96A23 OTTHUMG00000159631 ENST00000512055.1:c.1828-110284G>C chr3.hg19:g.131869449C>G NA D3DNC5|Q8TEX1 hg19 CCDS3072.1 0.02 -0.070184 TCTxTGT UNCOVERED NOVEL CPNE4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356583.4 11 3.310706 KEEP 8 0 0 11 380 CC 0 0 0 - 2 40 74 0 0 6.695633 4 60 148 26 ENST00000512055.1 0.333333 0.054137 NCK1 4690 __UNKNOWN__ __UNKNOWN__ 3 136667954 136667954 __UNKNOWN__ 3'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:136667954C>G ENST00000469404.1 + 0 1692 IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000481752.1_3'UTR|NCK1_ENST00000288986.2_3'UTR NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 NA NA actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506) cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971) cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 ATAAAAATCACTTAATTTTTT 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X17576 CCDS3092.1, CCDS54644.1 3q21 2013-02-14 ENSG00000158092 ENSG00000158092 4690 SH2 domain containing 7664 protein-coding gene gene with protein product 600508 NCK NA 7806213, 9737977 Standard NM_006153 XM_005247498 NA Approved NCKalpha uc003erh.3 P16333 OTTHUMG00000159781 ENST00000469404.1:c.*659C>G chr3.hg19:g.136667954C>G NA B7Z751|D3DNE3 hg19 CCDS54644.1 0.02 13.711077 TCAxTTA COVERED NOVEL NCK1-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000357287.1 1 9.931948 KEEP 0 0 0 33 1151 CC 0.999998 0.999998 0 + 55 60 2031 0 0 165.59395 265 60 9710 415 ENST00000469404.1 0.171875 1 PIK3CB 5291 __UNKNOWN__ __UNKNOWN__ 3 138464925 138464925 __UNKNOWN__ Intron SNP T T C rs448808 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:138464925T>C ENST00000477593.1 - 4 471 PIK3CB_ENST00000289153.2_Intron P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta NA NA activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 Caffeine(DB00201) ctcatctctataaaaaattaa 0.522 NA NA C||| 3453 0.689497 0.5998 0.6873 5008 , , NA 15809 0.9841 NA 0.5169 False NA ,,, NA NA NA 2504 0.6861 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3104.1 3q22.3 2013-09-19 2012-07-13 ENSG00000051382 ENSG00000051382 5291 2.7.1.153 8976 protein-coding gene gene with protein product 602925 phosphoinositide-3-kinase, catalytic, beta polypeptide PIK3C1 NA 8246984 Standard NM_006219 NA Approved uc011bmq.3 P42338 OTTHUMG00000159893 ENST00000477593.1:c.398-3302A>G chr3.hg19:g.138464925T>C NA D3DNF0|Q24JU2 hg19 CCDS3104.1 0.02 -0.087727 CTAxAAA UNCOVERED NOVEL PIK3CB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358019.1 2 2.406095 KEEP 0 0 0 8 235 TT 0.99257 0.09898 0 - 3 60 113 0 0 10.243626 6 60 196 26 ENST00000477593.1 0.333333 0.099721 PIK3CB 5291 __UNKNOWN__ __UNKNOWN__ 3 138523640 138523640 __UNKNOWN__ Intron SNP G G A rs9854852|rs386666301|rs34900559 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:138523640G>A ENST00000477593.1 - 1 58 P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta NA NA activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 Caffeine(DB00201) gccaaggtgggcggatcacga 0.498 NA NA G||| 1181 0.235823 0.1407 0.2767 5008 , , NA 16507 0.0159 NA 0.4781 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3104.1 3q22.3 2013-09-19 2012-07-13 ENSG00000051382 ENSG00000051382 5291 2.7.1.153 8976 protein-coding gene gene with protein product 602925 phosphoinositide-3-kinase, catalytic, beta polypeptide PIK3C1 NA 8246984 Standard NM_006219 NA Approved uc011bmq.3 P42338 OTTHUMG00000159893 ENST00000477593.1:c.15+29896C>T chr3.hg19:g.138523640G>A NA D3DNF0|Q24JU2 hg19 CCDS3104.1 0.02 -0.087472 TGGxCGG UNCOVERED NOVEL PIK3CB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358019.1 3 2.407103 KEEP 1 0 0 8 264 GG 0 0 0 - 5 58 148 0 0 14.151489 5 60 174 25 ENST00000477593.1 0.5 0.099721 PIK3CB 5291 __UNKNOWN__ __UNKNOWN__ 3 138523641 138523641 __UNKNOWN__ Intron SNP C C T rs386666301|rs34900559|rs9854577 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:138523641C>T ENST00000477593.1 - 1 58 P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta NA NA activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 Caffeine(DB00201) ccaaggtgggcggatcacgag 0.502 NA NA C||| 1181 0.235823 0.1407 0.2767 5008 , , NA 16529 0.0159 NA 0.4781 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3104.1 3q22.3 2013-09-19 2012-07-13 ENSG00000051382 ENSG00000051382 5291 2.7.1.153 8976 protein-coding gene gene with protein product 602925 phosphoinositide-3-kinase, catalytic, beta polypeptide PIK3C1 NA 8246984 Standard NM_006219 NA Approved uc011bmq.3 P42338 OTTHUMG00000159893 ENST00000477593.1:c.15+29895G>A chr3.hg19:g.138523641C>T NA D3DNF0|Q24JU2 hg19 CCDS3104.1 0.02 -0.078926 GGGxGGA UNCOVERED NOVEL PIK3CB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358019.1 3 2.407501 KEEP 1 0 0 8 261 CC 0 0 0 - 5 58 169 0 0 16.60084 4 60 127 26 ENST00000477593.1 0.555556 0.077336 CLSTN2 64084 __UNKNOWN__ __UNKNOWN__ 3 140123569 140123569 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:140123569A>G ENST00000458420.3 + 4 788 c.598A>G c.(598-600)Atc>Gtc p.I200V NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 200 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA homophilic cell adhesion (GO:0007156) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211) calcium ion binding (GO:0005509) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CAACTATGAAATCGTCACCAC 0.532 NA NA HNSCC(16;0.037) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(45;858 913 3709 36904 37282) NA NA 0 132 112 119 NA NA NA 3 NA NA 140123569 2203 4300 6503 SO:0001583 missense AJ278018 CCDS3112.1 3q23 2011-07-01 ENSG00000158258 ENSG00000158258 64084 Cadherins / Cadherin-related 17448 protein-coding gene gene with protein product cadherin-related family member 13 611323 NA 12498782 Standard NM_022131 NM_022131 NA Approved CSTN2, CS2, FLJ39113, CDHR13 uc003etn.3 Q9H4D0 OTTHUMG00000160139 ENST00000458420.3:c.598A>G chr3.hg19:g.140123569A>G ENSP00000402460:p.Ile200Val NA B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0 hg19 CCDS3112.1 0.02 18.336066 GAAxTCG COVERED . . . . . . . . . . A 23.9 4.472026 0.84533 . . ENSG00000158258 ENST00000458420 T 0.58797 0.31 5.66 5.66 0.87406 Cadherin (4);Cadherin-like (1); 0.000000 0.85682 D 0.000000 T 0.79293 0.4421 M 0.88979 2.995 0.80722 D 1 D 0.63880 0.993 D 0.76071 0.987 D 0.83433 0.0039 10 0.87932 D 0 -9.1593 13.8537 0.63513 1.0:0.0:0.0:0.0 . 200 Q9H4D0 CSTN2_HUMAN V 200 ENSP00000402460:I200V ENSP00000402460:I200V I + 1 0 CLSTN2 141606259 1.000000 0.71417 0.856000 0.33681 0.993000 0.82548 9.210000 0.95106 2.153000 0.67306 0.460000 0.39030 ATC NOVEL CLSTN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359393.3 2 6.017302 KEEP 0 0 0 20 599 AA 0.999863 0.999863 0 + 59 60 2139 0 0 168.215122 359 60 12235 527 ENST00000458420.3 0.141148 1 U2SURP 23350 __UNKNOWN__ __UNKNOWN__ 3 142775323 142775323 __UNKNOWN__ 3'UTR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:142775323G>C ENST00000473835.2 + 0 3211 U2SURP_ENST00000397933.2_3'UTR|U2SURP_ENST00000493598.2_3'UTR NM_001080415.1 NP_001073884.1 O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing NA NA RNA processing (GO:0006396) nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 TCACTTATTGGAAATGCGATT 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 44 43 43 NA NA NA 3 NA NA 142775323 1834 4080 5914 SO:0001624 3_prime_UTR_variant BK000564 CCDS46928.1 3q23 2013-02-12 ENSG00000163714 ENSG00000163714 23350 RNA binding motif (RRM) containing 30855 protein-coding gene gene with protein product functional spliceosome-associated protein a, Ser/Arg-rich domain protein, 140 kDa, U2 associated SR140 protein NA NA 9205841, 12234937 Standard NM_001080415 NM_001080415 NA Approved fSAPa, SR140 uc003evh.1 O15042 OTTHUMG00000159323 ENST00000473835.2:c.*31G>C chr3.hg19:g.142775323G>C NA A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70 hg19 CCDS46928.1 0.02 34.701477 TTGxAAA COVERED NOVEL U2SURP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354603.2 3 30.698205 KEEP 0 0 0 102 3493 GG 1 1 0 + 145 60 5247 0 0 431.559653 632 60 22514 1094 ENST00000473835.2 0.186615 1 PBX2P1 5088 __UNKNOWN__ __UNKNOWN__ 3 142897223 142897223 __UNKNOWN__ RNA SNP T T G rs2167114|rs563195327 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:142897223T>G ENST00000560287.1 + 0 2097 pre-B-cell leukemia homeobox 2 pseudogene 1 NA NA NA gttgttgttgttgGTGGTGGT 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 3q24 2014-03-25 2007-01-30 2007-01-30 ENSG00000244171 ENSG00000244171 5088 Homeoboxes / TALE class 8635 pseudogene pseudogene NA pre-B-cell leukemia transcription factor pseudogene 1 PBX2, PBXP1 NA 1682799 Standard NG_002434 NG_002434 NA Approved OTTHUMG00000159350 ENST00000560287.1: chr3.hg19:g.142897223T>G NA hg19 0.02 1.538578 TTGxTGG COVERED NOVEL PBX2P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417717.1 3 4.344036 KEEP 1 1 24 23 675 TT 0.999892 0.999832 0 + 6 60 172 2 0 10.653784 87 70 2935 131 ENST00000560287.1 0.064516 0.99994 WWTR1 25937 __UNKNOWN__ __UNKNOWN__ 3 149374580 149374580 __UNKNOWN__ Intron SNP A A T rs62271161 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:149374580A>T ENST00000465804.1 - 3 688 WWTR1_ENST00000467467.1_Intron|WWTR1_ENST00000360632.3_Intron NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 NA NA cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) tctctctctcacacacacaca 0.532 NA NA T CAMTA1 epitheliod hemangioendothelioma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 3 3q23-q24 607392 WW domain containing transcription regulator 1 M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022036 CCDS3144.1 3q23-q24 2004-12-03 ENSG00000018408 ENSG00000018408 25937 24042 protein-coding gene gene with protein product 607392 NA 11118213, 15096513 Standard NM_015472 NM_015472 NA Approved TAZ, DKFZp586I1419 uc021xfm.1 Q9GZV5 OTTHUMG00000159614 ENST00000465804.1:c.431+82T>A chr3.hg19:g.149374580A>T NA D3DNH7|Q8N3P2|Q9Y3W6 hg19 CCDS3144.1 0.02 -0.289045 CTCxCAC COVERED NOVEL WWTR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356498.1 0 2.872529 KEEP 0 1 9 13 395 AA 0.995343 0.757343 0 - 4 60 139 1 0 10.575175 28 60 934 52 ENST00000465804.1 0.125 0.760887 RP11-23D24.2 0 __UNKNOWN__ __UNKNOWN__ 3 153476524 153476524 __UNKNOWN__ RNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:153476524C>T ENST00000493214.2 - 0 24 RP11-23D24.2_ENST00000488210.1_RNA NA NA NA ggattacaggcgtgagccacc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000493214.2: chr3.hg19:g.153476524C>T NA hg19 0.02 -0.096497 AGGxGTG UNCOVERED NOVEL RP11-23D24.2-001 KNOWN basic antisense NA processed_transcript OTTHUMT00000356965.2 2 2.407563 KEEP 3 0 0 8 265 CC 0 0 0 - 7 60 234 0 0 23.607493 4 60 142 24 ENST00000493214.2 0.636364 0.120436 ARL14 80117 __UNKNOWN__ __UNKNOWN__ 3 160396176 160396176 __UNKNOWN__ 3'UTR SNP G G A rs75884210 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:160396176G>A ENST00000320767.2 + 0 1229 NM_025047.2 NP_079323.1 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 NA NA small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410) GTP binding (GO:0005525) lung(6) 6 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) TGGAAAAAGCGTAATGTTAAT 0.353 NA NA G||| 80 0.0159744 0.025 0.0115 5008 , , NA 19742 0 NA 0.0318 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026248 CCDS3192.1 3q25.33 2014-05-09 2005-11-03 2005-11-03 ENSG00000179674 ENSG00000179674 80117 ADP-ribosylation factors-like, ADP-ribosylation factors 22974 protein-coding gene gene with protein product 614439 ADP-ribosylation factor 7 ARF7 NA 15367757 Standard NM_025047 NM_025047 NA Approved FLJ22595 uc003fdq.3 Q8N4G2 OTTHUMG00000159031 ENST00000320767.2:c.*463G>A chr3.hg19:g.160396176G>A NA Q9H655 hg19 CCDS3192.1 0.02 6.141526 AGCxTAA COVERED NOVEL ARL14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352958.1 2 3.009401 KEEP 0 0 0 10 325 GG 0.992708 0.992708 0 + 97 60 3450 0 0 335.712013 88 60 2974 226 ENST00000320767.2 0.524324 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 163200620 163200620 __UNKNOWN__ IGR SNP C C T rs79788387 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:163200620C>T NA NA RP11-418B12.1 (3467 upstream) : AC104637.1 (33569 downstream) NA NA NA tccttccttccttcttccttc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.163200620C>T NA hg19 0.02 -0.05264 TTCxTTC UNCOVERED NOVEL 0 3 3.009766 KEEP 0 0 0 10 346 CC 0.992708 0.036498 0 2 60 71 0 2 6.395605 4 60 150 16 0.333333 0.036766 SKIL 6498 __UNKNOWN__ __UNKNOWN__ 3 170077400 170077400 __UNKNOWN__ Intron SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:170077400T>A ENST00000426052.2 + 2 30 SKIL_ENST00000490989.1_Intron|SKIL_ENST00000259119.4_Intron NM_001145098.2 NP_001138570.1 P12757 SKIL_HUMAN SKI-like proto-oncogene NA NA blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234) chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) aaaaaaaaaataaaagaaACT 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X15217 CCDS33890.1, CCDS46953.1, CCDS46954.1 3q26 2014-06-25 2014-06-25 ENSG00000136603 ENSG00000136603 6498 SKI transcriptional corepressors 10897 protein-coding gene gene with protein product 165340 SKI-like oncogene NA 2762147 Standard NM_005414 NM_005414 NA Approved SNO, SnoN, SnoA uc003fgw.3 P12757 OTTHUMG00000158831 ENST00000426052.2:c.-202-87T>A chr3.hg19:g.170077400T>A NA A6NGT1|B4DT50|O00464|P12756|Q07501 hg19 CCDS46954.1 0.02 1.374467 AAAxAAA COVERED NOVEL SKIL-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000352405.2 3 4.426706 KEEP 0 1 29 25 627 TT 0.999997 0.99755 0 + 8 60 146 0 1 8.026302 63 60 1688 122 ENST00000426052.2 0.112676 0.997553 ABCC5 10057 __UNKNOWN__ __UNKNOWN__ 3 183665267 183665267 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:183665267G>T ENST00000334444.6 - 23 3499 c.3259C>A c.(3259-3261)Cct>Act p.P1087T ABCC5_ENST00000265586.6_Missense_Mutation_p.P1044T NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1087 ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}. NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495) AAAAAAAAAGGAGCTTGGTTG 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 48 57 54 NA NA NA 3 NA NA 183665267 1970 4153 6123 SO:0001583 missense AF104942 CCDS33898.1, CCDS43176.1 3q27 2012-03-14 ENSG00000114770 ENSG00000114770 10057 ATP binding cassette transporters / subfamily C 56 protein-coding gene gene with protein product 605251 NA 8894702, 9827529 Standard NM_005688 XM_005247058 NA Approved MRP5, SMRP, EST277145, MOAT-C uc003fmg.3 O15440 OTTHUMG00000156871 ENST00000334444.6:c.3259C>A chr3.hg19:g.183665267G>T ENSP00000333926:p.Pro1087Thr NA B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3 hg19 CCDS43176.1 0.02 11.562313 AAGxAGC COVERED . . . . . . . . . . G 12.76 2.034235 0.35893 . . ENSG00000114770 ENST00000334444;ENST00000265586 D;D 0.88818 -2.43;-2.43 5.53 4.65 0.58169 ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1); 0.168259 0.53938 N 0.000041 D 0.85647 0.5745 L 0.39147 1.195 0.49798 D 0.999825 B;B 0.32968 0.392;0.176 B;B 0.38296 0.27;0.19 T 0.81647 -0.0838 10 0.19147 T 0.46 -9.6546 15.681 0.77367 0.0:0.0:0.8618:0.1382 . 1044;1087 Q86UX3;O15440 .;MRP5_HUMAN T 1087;1044 ENSP00000333926:P1087T;ENSP00000265586:P1044T ENSP00000265586:P1044T P - 1 0 ABCC5 185147961 1.000000 0.71417 0.041000 0.18516 0.863000 0.49368 3.363000 0.52321 1.316000 0.45131 0.655000 0.94253 CCT NOVEL ABCC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346350.1 1 15.9455 KEEP 0 0 0 53 1718 GG 1 1 0 - 235 60 7367 0 0 771.293625 80 60 2770 454 ENST00000334444.6 0.746032 1 TMEM207 131920 __UNKNOWN__ __UNKNOWN__ 3 190165510 190165510 __UNKNOWN__ Intron SNP G G T rs201405137 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:190165510G>T ENST00000354905.2 - 2 180 NM_207316.1 NP_997199.1 Q6UWW9 TM207_HUMAN transmembrane protein 207 NA NA integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2)|lung(4) 7 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) CTAATGGCTTGAGCCTTTTTT 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 35 31 32 NA NA NA 3 NA NA 190165510 692 1591 2283 SO:0001627 intron_variant BC071780 CCDS3297.1 3q28 2008-02-18 ENSG00000198398 ENSG00000198398 131920 33705 protein-coding gene gene with protein product 614786 NA Standard NM_207316 NM_207316 NA Approved uc003fsj.2 Q6UWW9 OTTHUMG00000156213 ENST00000354905.2:c.113+68C>A chr3.hg19:g.190165510G>T NA hg19 CCDS3297.1 0.02 3.002862 CTTxAGC COVERED NOVEL TMEM207-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343515.1 0 3.003323 KEEP 0 0 0 10 299 GG 0.992708 0.992708 0 - 13 70 230 0 0 11.171297 122 70 3447 162 ENST00000354905.2 0.096296 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195346614 195346614 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195346614G>C NA NA APOD (35538 upstream) : RP11-141C7.4 (20246 downstream) NA NA NA AGCTGCACCTGATGCCACGAT 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.195346614G>C NA hg19 0.02 36.026494 CCTxATG COVERED . . . . . . . . . . . 9.397 1.076967 0.20227 . . ENSG00000176945 ENST00000381954 . . . 0.705 0.705 0.18127 . . . . . T 0.32823 0.0842 . . . 0.09310 N 0.999999 . . . . . . T 0.27434 -1.0074 5 0.40728 T 0.16 . 4.8054 0.13317 0.0:0.0:1.0:0.0 . . . . H 306 . ENSP00000371380:D306H D + 1 0 MUC20 196827903 0.001000 0.12720 0.004000 0.12327 0.111000 0.19643 0.100000 0.15231 0.680000 0.31366 0.152000 0.16155 GAT NOVEL 0 5 24.097641 KEEP 23 9 318 191 6612 GG 1 1 0 25 60 890 0 0 52.419696 792 60 28750 1280 0.0306 1 RP11-141C7.4 0 __UNKNOWN__ __UNKNOWN__ 3 195366965 195366965 __UNKNOWN__ lincRNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195366965C>T ENST00000608379.1 + 0 105 NA NA NA GAATTATTAGCCTATACTAAT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000608379.1: chr3.hg19:g.195366965C>T NA hg19 0.02 -0.39468 TAGxCTA UNCOVERED NOVEL RP11-141C7.4-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000472321.1 4 2.373112 KEEP 27 0 0 8 246 CC 0 0 0 + 12 40 381 0 0 32.492646 33 40 1125 85 ENST00000608379.1 0.266667 0.92664 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195400728 195400728 __UNKNOWN__ lincRNA SNP A A G rs12107841 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195400728A>G ENST00000445430.1 + 0 1324 long intergenic non-protein coding RNA 969 NA NA NA GATTGTGCCCAGCCTGTACGC 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195400728A>G NA hg19 0.02 3.68432 CCCxGCC COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 0 4.814219 KEEP 0 0 0 16 494 AA 0.997832 0.997832 0 + 6 40 184 0 0 10.743071 123 60 4255 160 ENST00000445430.1 0.046512 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195413351 195413351 __UNKNOWN__ IGR SNP T T C rs3103746 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195413351T>C NA NA LINC00969 (340 upstream) : MIR570 (12920 downstream) NA NA NA ctgctgggcttaagtgatcgt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.195413351T>C NA hg19 0.02 -0.245595 GCTxAAG COVERED NOVEL 0 5 3.309507 KEEP 0 0 0 11 326 TT 0.993072 0.636904 0 3 46 109 0 0 8.191771 25 60 833 47 0.107143 0.641347 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195452575 195452575 __UNKNOWN__ Silent SNP C C T rs371281295 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195452575C>T ENST00000436408.1 + 2 1225 c.1101C>T c.(1099-1101)agC>agT p.S367S MUC20_ENST00000445522.2_Silent_p.S332S|MUC20_ENST00000447234.2_Silent_p.S367S|MUC20_ENST00000320736.6_Silent_p.S196S Q8N307 MUC20_HUMAN mucin 20, cell surface associated 367 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. NA Missing. activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CAGAGAGCAGCGCCTCTTCCG 0.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000436408.1:c.1101C>T chr3.hg19:g.195452575C>T NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 5.256665 CAGxGCC COVERED NOVEL MUC20-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000341836.1 0 2.874561 KEEP 38 2 52 28 898 CC 0.999988 0.999988 0 + 20 40 650 0 0 48.435655 139 40 4766 239 ENST00000436408.1 0.125786 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195511142 195511142 __UNKNOWN__ Intron SNP T T C rs430037 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195511142T>C ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Missense_Mutation_p.N2437D|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000463781.3_Missense_Mutation_p.N2437D NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) p.N2437D(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAACGTTGGTGACAGGA 0.597 NA NA .||| 2741 0.547324 0.4629 0.4841 5008 , , NA 18811 0.75 NA 0.5755 False NA ,,, NA NA NA 2504 0.4683 NA NA NA NA NA 1 Substitution - Missense(1) prostate(1) 59 58 58 NA NA NA 3 NA NA 195511142 645 1581 2226 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-5816A>G chr3.hg19:g.195511142T>C NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 2.152665 CGTxGGT COVERED . . . . . . . . . . T 6.228 0.410269 0.11812 . . ENSG00000145113 ENST00000463781;ENST00000475231 T;T 0.34667 1.36;1.35 . . . . . . . . T 0.14917 0.0360 N 0.08118 0 0.09310 N 1 B 0.15141 0.012 B 0.04013 0.001 T 0.26950 -1.0088 7 . . . . 3.8346 0.08888 0.0:0.0:0.3913:0.6087 . 2437 E7ESK3 . D 2437 ENSP00000417498:N2437D;ENSP00000420243:N2437D . N - 1 0 MUC4 196995537 . . 0.023000 0.16930 0.000000 0.00434 . . 0.402000 0.25451 0.000000 0.15137 AAC NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 6 2.706338 KEEP 0 0 0 9 260 TT 0.99254 0.982161 0 - 14 60 470 0 0 39.75985 44 60 1495 86 ENST00000346145.4 0.241379 0.989542 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195511575 195511575 __UNKNOWN__ Intron SNP A A G rs74422441 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195511575A>G ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Silent_p.T2292T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000463781.3_Silent_p.T2292T NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGGGCTAGTGACAGGAA 0.592 NA NA .||| 184 0.0367412 0.0908 0.0173 5008 , , NA 11682 0.003 NA 0.0358 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA NA 0 9 10 10 NA NA NA 3 NA NA 195511575 583 1495 2078 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-6249T>C chr3.hg19:g.195511575A>G NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 2.245044 GCTxGTG COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 2 2.402281 KEEP 0 0 0 8 226 AA 0.99257 0.983602 0 - 9 60 314 0 0 26.116559 34 60 1132 76 ENST00000346145.4 0.209302 0.990964 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195701338 195701338 __UNKNOWN__ RNA SNP C C T rs3867072 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195701338C>T ENST00000427841.1 - 0 1486 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA AGCGAGTTTGCCCCGAGGCGG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene NA succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195701338C>T NA hg19 0.02 23.754541 TTGxCCC COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 0 16.557227 KEEP 2 9 275 152 5234 CC 1 1 0 - 19 60 638 0 0 36.703491 555 60 19369 1025 ENST00000427841.1 0.033101 1 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195701548 195701548 __UNKNOWN__ RNA SNP T T C rs368770817 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195701548T>C ENST00000427841.1 - 0 1387 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA GGGAAGTAggtcgggcatgca 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene NA succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195701548T>C NA hg19 0.02 -0.32449 AGGxCGG UNCOVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 1 2.406828 KEEP 13 0 0 8 241 TT 0 0 0 - 4 40 141 0 0 10.506026 33 50 1095 61 ENST00000427841.1 0.108108 0.835716 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195703875 195703875 __UNKNOWN__ RNA SNP G G T rs76423410 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195703875G>T ENST00000427841.1 - 0 1191 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA GAAGGTGAGGGCGAGTGGTGC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene NA succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195703875G>T NA hg19 0.02 7.183694 AGGxCGA COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 1 10.446524 KEEP 42 1 29 45 1470 GG 1 1 0 - 10 27 300 0 0 17.134601 215 60 7277 323 ENST00000427841.1 0.044444 1 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195708912 195708912 __UNKNOWN__ RNA SNP A A G rs59688909 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195708912A>G ENST00000427841.1 - 0 899 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA tcacacggttaTATCAAGGCC 0.448 NA NA -||| 361 0.0720847 0.003 0.0706 5008 , , NA 33265 0.0188 NA 0.1113 False NA ,,, NA NA NA 2504 0.181 NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene NA succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195708912A>G NA hg19 0.02 4.464113 GTTxTAT COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 3 2.406339 KEEP 3 0 0 8 242 AA 0.99257 0.992552 0 - 25 60 908 0 0 77.834042 79 60 2507 122 ENST00000427841.1 0.240385 0.999981 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195956779 195956779 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:195956779C>A ENST00000296327.5 + 7 842 PCYT1A_ENST00000419333.1_3'UTR NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit NA NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) CTTTCTGTTGCCACCAGATTT 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 105 97 100 NA NA NA 3 NA NA 195956779 2203 4300 6503 SO:0001627 intron_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000296327.5:c.634-7C>A chr3.hg19:g.195956779C>A NA Q6ZMC7 hg19 CCDS3314.1 0.02 22.014523 TTGxCAC COVERED NOVEL SLC51A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341253.1 9 26.989037 KEEP 0 0 0 90 2948 CC 1 1 0 + 125 70 4190 0 0 346.880366 461 70 15867 855 ENST00000296327.5 0.213311 1 SENP5 205564 __UNKNOWN__ __UNKNOWN__ 3 196625646 196625646 __UNKNOWN__ Intron SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:196625646T>A ENST00000323460.5 + 3 1762 SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925) intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) tatgcgatgattccattccat 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(47;891 1095 11174 13858 51271) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC030705 CCDS3322.1 3q29 2005-08-17 2005-08-17 ENSG00000119231 ENSG00000119231 205564 28407 protein-coding gene gene with protein product 612845 SUMO1/sentrin specific protease 5 NA 12477932 Standard NM_152699 NM_152699 NA Approved MGC27076 uc003fwz.4 Q96HI0 OTTHUMG00000155527 ENST00000323460.5:c.1514-891T>A chr3.hg19:g.196625646T>A NA B4DY82|Q96SA5 hg19 CCDS3322.1 0.02 5.405255 TGAxTCC COVERED NOVEL SENP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340524.1 25 18.013716 KEEP 75 2 60 81 2341 TT 1 1 0 + 6 49 209 1 0 13.991808 91 60 3024 321 ENST00000323460.5 0.061856 1 SENP5 205564 __UNKNOWN__ __UNKNOWN__ 3 196625691 196625691 __UNKNOWN__ Intron SNP A A T rs12487121 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:196625691A>T ENST00000323460.5 + 3 1762 SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925) intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) agaccattcgatgattgcatt 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(47;891 1095 11174 13858 51271) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC030705 CCDS3322.1 3q29 2005-08-17 2005-08-17 ENSG00000119231 ENSG00000119231 205564 28407 protein-coding gene gene with protein product 612845 SUMO1/sentrin specific protease 5 NA 12477932 Standard NM_152699 NM_152699 NA Approved MGC27076 uc003fwz.4 Q96HI0 OTTHUMG00000155527 ENST00000323460.5:c.1514-846A>T chr3.hg19:g.196625691A>T NA B4DY82|Q96SA5 hg19 CCDS3322.1 0.02 15.187234 TCGxTGA COVERED NOVEL SENP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340524.1 249 3.594324 KEEP 182 20 630 233 7307 AA 1 1 0 + 13 51 468 0 0 31.780474 199 60 7043 1178 ENST00000323460.5 0.061321 1 SENP5 205564 __UNKNOWN__ __UNKNOWN__ 3 196658476 196658476 __UNKNOWN__ 3'UTR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:196658476A>G ENST00000323460.5 + 0 3199 NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925) intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) GCCAGTAACAATGACAGATTT 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(47;891 1095 11174 13858 51271) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC030705 CCDS3322.1 3q29 2005-08-17 2005-08-17 ENSG00000119231 ENSG00000119231 205564 28407 protein-coding gene gene with protein product 612845 SUMO1/sentrin specific protease 5 NA 12477932 Standard NM_152699 NM_152699 NA Approved MGC27076 uc003fwz.4 Q96HI0 OTTHUMG00000155527 ENST00000323460.5:c.*682A>G chr3.hg19:g.196658476A>G NA B4DY82|Q96SA5 hg19 CCDS3322.1 0.02 6.684135 ACAxTGA COVERED NOVEL SENP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340524.1 1 4.513115 KEEP 0 0 0 15 459 AA 0.99649 0.99649 0 + 36 60 1250 0 0 103.262708 142 60 4899 233 ENST00000323460.5 0.202247 1 AC024560.3 0 __UNKNOWN__ __UNKNOWN__ 3 197349143 197349143 __UNKNOWN__ RNA SNP T T C rs202141824 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:197349143T>C ENST00000418868.1 - 0 434 NR_003266.2 NA NA NA CACGGTGTCATAGAAATGCCA 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000418868.1: chr3.hg19:g.197349143T>C NA hg19 0.02 -0.324549 TCAxAGA UNCOVERED NOVEL AC024560.3-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000340283.1 0 2.407077 KEEP 6 0 0 8 244 TT 0 0 0 - 7 31 263 0 0 21.846884 30 40 994 55 ENST00000418868.1 0.189189 0.835716 AC024560.3 0 __UNKNOWN__ __UNKNOWN__ 3 197351126 197351126 __UNKNOWN__ RNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:197351126C>T ENST00000418868.1 - 0 127 NR_003266.2 NA NA NA ACAAATGCTGCGGGGGATAGT 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000418868.1: chr3.hg19:g.197351126C>T NA hg19 0.02 1.813474 CTGxGGG COVERED NOVEL AC024560.3-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000340283.1 0 2.707269 KEEP 2 0 0 9 265 CC 0.99254 0.991416 0 - 10 25 336 0 1 25.468254 67 50 2047 91 ENST00000418868.1 0.12987 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 197846843 197846843 __UNKNOWN__ IGR SNP A A G rs7637750 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr3:197846843A>G NA NA AC073135.3 (8406 upstream) : FAM157A (33277 downstream) NA NA NA CCAAGGTGTCAGACACCGTGG 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr3.hg19:g.197846843A>G NA hg19 0.02 -0.350875 GTCxGAC COVERED NOVEL 0 1 2.406921 KEEP 3 0 0 8 239 AA 0.99257 0.871187 0 3 40 99 0 0 6.740483 36 60 1242 61 0.076923 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 46134 46134 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:46134C>A NA NA None (None upstream) : Z95704.4 (2856 downstream) NA NA NA aatcccaacactttgggaggc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.46134C>A NA hg19 0.02 -0.149143 ACAxTTT COVERED NOVEL 0 4 3.902772 KEEP 0 0 0 13 416 CC 0.994391 0.290363 0 4 60 138 0 0 11.801106 12 60 443 38 0.25 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 47340 47340 __UNKNOWN__ IGR SNP G G T rs10434477 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:47340G>T NA NA None (None upstream) : Z95704.4 (1650 downstream) NA NA NA gggcatgttggcaggcgcctg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.47340G>T NA hg19 0.02 -0.140362 TTGxCAG COVERED NOVEL 0 3 3.910839 KEEP 2 0 0 13 432 GG 0.993072 0.259157 0 4 60 131 0 0 11.101206 12 60 415 34 0.25 0.260965 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 55058 55058 __UNKNOWN__ Intron SNP G G A rs74454606 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:55058G>A ENST00000509152.2 + 1 188 ZNF595_ENST00000339368.6_Intron|ZNF595_ENST00000526473.2_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) tgggattacaggcgtgagcca 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.3+1673G>A chr4.hg19:g.55058G>A NA hg19 0.02 -0.280403 ACAxGCG COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 0 3.912315 KEEP 0 0 0 13 448 GG 0.994391 0.735522 0 + 3 60 108 0 0 7.910031 29 60 1011 61 ENST00000509152.2 0.09375 0.739671 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 59502 59502 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:59502C>T ENST00000509152.2 + 2 315 ZNF595_ENST00000339368.6_Intron|ZNF595_ENST00000526473.2_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GTTTCATTTTCTTTCTTTGCA 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.130+53C>T chr4.hg19:g.59502C>T NA hg19 0.02 33.803545 TTTxTTT COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 2 26.620223 KEEP 0 1 33 100 3494 CC 1 1 0 + 49 60 1722 0 0 115.821817 744 60 27443 1047 ENST00000509152.2 0.061791 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 60210 60210 __UNKNOWN__ Intron SNP G G A rs3908749 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:60210G>A ENST00000509152.2 + 3 411 ZNF595_ENST00000339368.6_Intron|ZNF595_ENST00000526473.2_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TCTGTCCCATGCTCTTAAATC 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.226+164G>A chr4.hg19:g.60210G>A NA hg19 0.02 14.944603 CATxCTC COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 3 7.659169 KEEP 0 1 30 36 1233 GG 1 1 0 + 26 60 860 0 0 56.52308 380 60 13513 475 ENST00000509152.2 0.064039 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 67952 67952 __UNKNOWN__ 3'UTR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:67952T>A ENST00000509152.2 + 0 632 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) agagacggggtttcactgagt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*189T>A chr4.hg19:g.67952T>A NA hg19 0.02 10.743426 GGGxTTC COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 6 12.54453 KEEP 1 1 26 51 1377 TT 1 1 0 + 18 60 550 0 0 33.58055 311 60 9532 410 ENST00000509152.2 0.054711 1 MYL5 4636 __UNKNOWN__ __UNKNOWN__ 4 674218 674218 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:674218T>G ENST00000400159.2 + 5 397 MYL5_ENST00000505477.1_Intron|MYL5_ENST00000511290.1_Intron|MYL5_ENST00000506838.1_Intron NM_002477.1 NP_002468.1 Q02045 MYL5_HUMAN myosin, light chain 5, regulatory NA NA regulation of muscle contraction (GO:0006937) muscle myosin complex (GO:0005859) calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307) endometrium(1)|kidney(1)|lung(1) 3 GGGGCAGGGGTCTCCCCTCCT 0.667 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43197.1 4p16 2013-01-10 2006-09-29 ENSG00000215375 ENSG00000215375 4636 Myosins / Light chain, EF-hand domain containing 7586 protein-coding gene gene with protein product 160782 myosin, light polypeptide 5, regulatory NA 1284596 Standard NM_002477 NM_002477 NA Approved uc003gav.3 Q02045 OTTHUMG00000159971 ENST00000400159.2:c.293-80T>G chr4.hg19:g.674218T>G NA Q8IXL8 hg19 CCDS43197.1 0.02 3.8634 GGGxCTC COVERED NOVEL MYL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358570.2 2 5.394101 KEEP 0 0 0 18 415 TT 0.999859 0.999859 0 + 34 60 380 0 0 13.372299 220 60 5805 311 ENST00000400159.2 0.133858 1 CRIPAK 285464 __UNKNOWN__ __UNKNOWN__ 4 1388524 1388524 __UNKNOWN__ Silent SNP A A G rs55944930 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:1388524A>G ENST00000324803.4 + 1 3185 c.225A>G c.(223-225)ccA>ccG p.P75P NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 75 NA negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGGAGTGCCCACCTGCTCATG 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 287 247 260 NA NA NA 4 NA NA 1388524 2203 4300 6503 SO:0001819 synonymous_variant AK096209 CCDS3349.1 4p16.3 2011-02-10 2006-09-04 ENSG00000179979 ENSG00000179979 285464 26619 protein-coding gene gene with protein product 610203 cysteine-rich PAK1inhibitor NA 16278681 Standard NM_175918 NM_175918 NA Approved FLJ34443 uc003gdf.2 Q8N1N5 OTTHUMG00000121131 ENST00000324803.4:c.225A>G chr4.hg19:g.1388524A>G NA Q8NB03 hg19 CCDS3349.1 0.02 13.600396 CCCxCCT COVERED NOVEL CRIPAK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241607.2 3 3.607341 KEEP 4 0 0 12 342 AA 0.993634 0.993634 0 + 30 49 973 0 0 66.651954 335 60 10562 525 ENST00000324803.4 0.082192 1 CRIPAK 285464 __UNKNOWN__ __UNKNOWN__ 4 1388817 1388817 __UNKNOWN__ Missense_Mutation SNP C C G rs200606324 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:1388817C>G ENST00000324803.4 + 1 3478 c.518C>G c.(517-519)cCa>cGa p.P173R NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 173 NA negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CACACGTGCCCATGTGGAGTG 0.677 NA NA N||| 940 0.1877 0.3328 0.1398 5008 , , NA 18475 0.0992 NA 0.0378 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA NA 0 192 130 151 NA NA NA 4 NA NA 1388817 2194 4201 6395 SO:0001583 missense AK096209 CCDS3349.1 4p16.3 2011-02-10 2006-09-04 ENSG00000179979 ENSG00000179979 285464 26619 protein-coding gene gene with protein product 610203 cysteine-rich PAK1inhibitor NA 16278681 Standard NM_175918 NM_175918 NA Approved FLJ34443 uc003gdf.2 Q8N1N5 OTTHUMG00000121131 ENST00000324803.4:c.518C>G chr4.hg19:g.1388817C>G ENSP00000323978:p.Pro173Arg NA Q8NB03 hg19 CCDS3349.1 0.02 13.919252 GCCxATG COVERED . . . . . . . . . . c 1.909 -0.451230 0.04572 . . ENSG00000179979 ENST00000324803 T 0.19250 2.16 1.25 0.276 0.15663 Post-SET domain (1); . . . . T 0.08358 0.0208 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.40079 -0.9582 9 0.17369 T 0.5 . 4.4738 0.11726 0.0:0.5796:0.2425:0.1779 . 173 Q8N1N5 CRPAK_HUMAN R 173 ENSP00000323978:P173R ENSP00000323978:P173R P + 2 0 CRIPAK 1378817 0.000000 0.05858 0.000000 0.03702 0.011000 0.07611 -0.368000 0.07543 -0.338000 0.08413 -1.976000 0.00459 CCA NOVEL CRIPAK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241607.2 1 6.921078 KEEP 3 0 0 23 757 CC 0.999892 0.999892 0 + 27 60 898 0 0 61.988258 307 60 10646 547 ENST00000324803.4 0.080838 1 CRIPAK 285464 __UNKNOWN__ __UNKNOWN__ 4 1388819 1388819 __UNKNOWN__ Missense_Mutation SNP T T C rs144797159 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:1388819T>C ENST00000324803.4 + 1 3480 c.520T>C c.(520-522)Tgt>Cgt p.C174R NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 174 NA negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CACGTGCCCATGTGGAGTGCC 0.677 NA NA N||| 940 0.1877 0.3328 0.1398 5008 , , NA 17297 0.0992 NA 0.0378 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA NA 0 191 130 151 NA NA NA 4 NA NA 1388819 2194 4196 6390 SO:0001583 missense AK096209 CCDS3349.1 4p16.3 2011-02-10 2006-09-04 ENSG00000179979 ENSG00000179979 285464 26619 protein-coding gene gene with protein product 610203 cysteine-rich PAK1inhibitor NA 16278681 Standard NM_175918 NM_175918 NA Approved FLJ34443 uc003gdf.2 Q8N1N5 OTTHUMG00000121131 ENST00000324803.4:c.520T>C chr4.hg19:g.1388819T>C ENSP00000323978:p.Cys174Arg NA Q8NB03 hg19 CCDS3349.1 0.02 10.019215 CCAxGTG COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. t|t 2.950|2.950 -0.216975|-0.216975 0.06101|0.06101 .|. .|. ENSG00000179979|ENSG00000179979 ENST00000324803|ENST00000382944 T|. 0.29142|. 1.58|. 1.25|1.25 -0.146|-0.146 0.13432|0.13432 Post-SET domain (1);|. .|. .|. .|. .|. T|T 0.15825|0.15825 0.0381|0.0381 N|N 0.08118|0.08118 0|0 0.09310|0.09310 N|N 1|1 B|. 0.20052|. 0.041|. B|. 0.11329|. 0.006|. T|T 0.24977|0.24977 -1.0145|-1.0145 9|6 0.66056|0.27082 D|T 0.02|0.32 .|. 4.6847|4.6847 0.12752|0.12752 0.0:0.2124:0.0:0.7876|0.0:0.2124:0.0:0.7876 .|. 174|. Q8N1N5|. CRPAK_HUMAN|. R|T 174|157 ENSP00000323978:C174R|. ENSP00000323978:C174R|ENSP00000372402:M157T C|M +|+ 1|2 0|0 CRIPAK|CRIPAK 1378819|1378819 0.000000|0.000000 0.05858|0.05858 0.003000|0.003000 0.11579|0.11579 0.014000|0.014000 0.08584|0.08584 -0.160000|-0.160000 0.10041|0.10041 -0.013000|-0.013000 0.14199|0.14199 0.102000|0.102000 0.15555|0.15555 TGT|ATG NOVEL CRIPAK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241607.2 1 6.589568 KEEP 3 0 0 22 603 TT 0.999879 0.999879 0 + 24 37 683 0 0 42.367136 309 60 10168 551 ENST00000324803.4 0.072072 1 FAM53A 152877 __UNKNOWN__ __UNKNOWN__ 4 1642496 1642496 __UNKNOWN__ 3'UTR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:1642496T>C ENST00000489363.1 - 0 2472 FAM53A_ENST00000472884.2_3'UTR|FAM53A_ENST00000461064.1_3'UTR|FAM53A_ENST00000308132.6_3'UTR Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A NA NA nucleus (GO:0005634) breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) CAGGTGCCGGTGGCAGCCATG 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC070112 CCDS33939.1, CCDS75091.1 4p16.3 2005-08-09 ENSG00000174137 ENSG00000174137 152877 31860 protein-coding gene gene with protein product NA NA Standard NM_001013622 NM_001013622 NA Approved DNTNP uc021xkl.1 Q6NSI3 OTTHUMG00000159855 ENST00000489363.1:c.*792A>G chr4.hg19:g.1642496T>C NA Q6ZUL5 hg19 0.02 16.149807 CGGxGGC COVERED NOVEL FAM53A-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357744.1 3 3.74131 KEEP 4 1 33 24 678 TT 0.999931 0.999931 0 - 17 49 499 0 0 26.982021 448 60 14646 610 ENST00000489363.1 0.036559 1 SH3BP2 6452 __UNKNOWN__ __UNKNOWN__ 4 2841747 2841747 __UNKNOWN__ 3'UTR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:2841747T>G ENST00000356331.5 + 0 8133 SH3BP2_ENST00000442312.2_3'UTR|SH3BP2_ENST00000503393.2_3'UTR NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 NA NA positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) agctcaggagtttgagaccaa 0.493 NA NA Cherubism NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease BC022996 CCDS33944.1, CCDS54715.1, CCDS54716.1 4p16.3 2013-02-14 ENSG00000087266 6452 Pleckstrin homology (PH) domain containing, SH2 domain containing 10825 protein-coding gene gene with protein product 602104 Cherubism NA 9299232, 11381256 Standard NM_003023 NM_003023 NA Approved RES4-23, CRBM uc003gfj.4 P78314 ENST00000356331.5:c.*6186T>G chr4.hg19:g.2841747T>G NA A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315 hg19 CCDS33944.1 0.02 3.065699 GAGxTTG COVERED NOVEL SH3BP2-007 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000362406.2 1 3.831796 KEEP 0 2 39 27 711 TT 0.999997 0.999997 0 + 19 60 281 0 0 10.366949 209 60 6414 273 ENST00000356331.5 0.083333 1 ADD1 118 __UNKNOWN__ __UNKNOWN__ 4 2931671 2931671 __UNKNOWN__ 3'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:2931671C>T ENST00000355842.3 + 0 4625 ADD1_ENST00000264758.7_3'UTR|ADD1_ENST00000398129.1_3'UTR|ADD1_ENST00000446856.1_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000538860.1_3'UTR P35611 ADDA_HUMAN adducin 1 (alpha) NA NA actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092) cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GTAGTTTAATCCTTTGTATTA 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(71;505 1201 20414 34538 37449) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L07261 CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1 4p16.3 2009-04-22 ENSG00000087274 ENSG00000087274 118 243 protein-coding gene gene with protein product 102680 NA 1840603 Standard NM_014189 NM_001119 NA Approved uc003gfq.3 P35611 OTTHUMG00000122080 ENST00000355842.3:c.*1773C>T chr4.hg19:g.2931671C>T NA A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6 hg19 0.02 12.973717 AATxCTT COVERED NOVEL ADD1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000242839.1 1 5.717638 KEEP 0 0 0 19 621 CC 0.99986 0.99986 0 + 131 60 4473 0 0 417.093437 183 60 6442 391 ENST00000355842.3 0.417197 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 11373690 11373690 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:11373690G>A NA NA MIR572 (3145 upstream) : HS3ST1 (21083 downstream) NA NA NA CCTACCAAACGCAAAGACCGC 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.11373690G>A NA hg19 0.02 8.183133 AACxCAA COVERED NOVEL 0 0 4.213624 KEEP 3 0 0 14 486 GG 0.995343 0.995343 0 26 60 883 0 0 67.049342 176 60 5786 280 0.128713 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 24613860 24613860 __UNKNOWN__ IGR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:24613860T>A NA NA DHX15 (27687 upstream) : RP11-496D24.2 (47618 downstream) NA NA NA tgagactctgtttcaaaaata 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.24613860T>A NA hg19 0.02 -0.043864 CTGxTTC UNCOVERED NOVEL 0 1 2.708457 KEEP 0 0 0 9 291 TT 0.99254 0.023894 0 5 60 172 0 0 19.584762 0 0 0 21 1 0.024074 TBC1D1 23216 __UNKNOWN__ __UNKNOWN__ 4 38053815 38053815 __UNKNOWN__ Intron SNP T T C rs561090742|rs533861369 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:38053815T>C ENST00000261439.4 + 12 2265 TBC1D1_ENST00000508802.1_Intron NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 NA NA membrane organization (GO:0061024)|regulation of protein localization (GO:0032880) cytosol (GO:0005829)|nucleus (GO:0005634) Rab GTPase activator activity (GO:0005097) NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 tgtgtgtgtgtgcgcgcgcgt 0.423 NA NA T||| 589 0.117612 0.0968 0.1715 5008 , , NA 15656 0.1012 NA 0.174 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029031 CCDS33972.1, CCDS58897.1 4p14 2013-07-09 ENSG00000065882 ENSG00000065882 23216 11578 protein-coding gene gene with protein product 609850 NA 10965142, 18258599 Standard NM_015173 NM_015173 NA Approved TBC, TBC1, KIAA1108 uc003gtb.3 Q86TI0 OTTHUMG00000150302 ENST00000261439.4:c.1911-2005T>C chr4.hg19:g.38053815T>C NA B7Z3D9|E9PGH8|Q96K82|Q9UPP4 hg19 CCDS33972.1 0.02 4.176834 GTGxGCG COVERED NOVEL TBC1D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317443.2 0 4.814001 KEEP 0 0 0 16 487 TT 0.997832 0.997828 0 + 34 60 1014 0 1 88.082364 76 60 2462 131 ENST00000261439.4 0.309091 0.999996 KLHL5 51088 __UNKNOWN__ __UNKNOWN__ 4 39128292 39128292 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:39128292T>C ENST00000359687.2 + 11 2494 RP11-360F5.1_ENST00000509449.1_RNA Q96PQ7 KLHL5_HUMAN kelch-like family member 5 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 TTGTGGATAATAAACAATTAT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF272976 CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1 4p15.1 2013-01-30 2013-01-30 ENSG00000109790 ENSG00000109790 51088 Kelch-like, BTB/POZ domain containing 6356 protein-coding gene gene with protein product 608064 kelch (Drosophila)-like 5, kelch-like 5 (Drosophila) NA 11590829, 14672410 Standard NM_001007075 NA Approved uc003gtp.3 Q96PQ7 OTTHUMG00000097819 ENST00000359687.2:c.2212-22T>C chr4.hg19:g.39128292T>C NA A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2 hg19 0.02 9.229267 TAAxAAA COVERED NOVEL KLHL5-201 KNOWN basic protein_coding NA protein_coding 0 3.009087 KEEP 0 0 0 10 309 TT 0.992708 0.992708 0 + 49 60 1800 0 0 152.824088 170 60 5799 294 ENST00000359687.2 0.223744 1 WDR19 57728 __UNKNOWN__ __UNKNOWN__ 4 39205317 39205317 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:39205317A>G ENST00000399820.3 + 7 732 c.578A>G c.(577-579)gAc>gGc p.D193G WDR19_ENST00000506503.1_Missense_Mutation_p.D193G|WDR19_ENST00000288634.7_Missense_Mutation_p.D33G NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 193 NA ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391) large_intestine(1) 1 AAGATGGATGACCGAACCTCT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 98 90 92 NA NA NA 4 NA NA 39205317 1880 4107 5987 SO:0001583 missense AB046858, AY029257 CCDS47042.1 4p14 2014-02-21 ENSG00000157796 ENSG00000157796 57728 WD repeat domain containing, Intraflagellar transport homologs 18340 protein-coding gene gene with protein product intraflagellar transport 144 homolog (Chlamydomonas) 608151 NA 12906858, 22019273 Standard XM_005262658 NA Approved Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13 uc003gtv.3 Q8NEZ3 OTTHUMG00000160466 ENST00000399820.3:c.578A>G chr4.hg19:g.39205317A>G ENSP00000382717:p.Asp193Gly NA B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4 hg19 CCDS47042.1 0.02 33.678788 ATGxCCG COVERED . . . . . . . . . . A 15.75 2.926130 0.52759 . . ENSG00000157796 ENST00000399820;ENST00000509560;ENST00000512112;ENST00000288634;ENST00000506503;ENST00000399836 T;T;T;T 0.64260 -0.08;2.2;-0.09;1.25 5.64 5.64 0.86602 WD40 repeat-like-containing domain (1); 0.225185 0.52532 D 0.000078 T 0.56992 0.2023 L 0.43152 1.355 0.44295 D 0.997163 B;B 0.09022 0.001;0.002 B;B 0.11329 0.005;0.006 T 0.53500 -0.8430 10 0.49607 T 0.09 -10.6408 16.1449 0.81559 1.0:0.0:0.0:0.0 . 193;193 Q8NEZ3;D6R9P6 WDR19_HUMAN;. G 193;134;33;33;193;192 ENSP00000382717:D193G;ENSP00000426918:D134G;ENSP00000288634:D33G;ENSP00000423491:D193G ENSP00000288634:D33G D + 2 0 WDR19 38881712 1.000000 0.71417 0.225000 0.23894 0.565000 0.35776 7.435000 0.80391 2.269000 0.75478 0.455000 0.32223 GAC NOVEL WDR19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360689.1 3 25.959122 KEEP 0 1 7 89 2749 AA 1 1 0 + 171 60 6011 0 0 503.72741 617 60 21205 1102 ENST00000399820.3 0.217005 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 42263215 42263215 __UNKNOWN__ IGR SNP G G T rs113710898 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:42263215G>T NA NA BEND4 (108320 upstream) : RP11-63A11.1 (20631 downstream) NA NA NA accatacccggccCAGATTTA 0.458 NA NA G||| 884 0.176518 0.1377 0.2709 5008 , , NA 16332 0.0506 NA 0.2455 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.42263215G>T NA hg19 0.02 -0.078862 CCGxCCC UNCOVERED NOVEL 0 2 2.404145 KEEP 0 0 0 8 258 GG 0.99257 0.076761 0 3 60 83 0 0 7.238833 6 60 219 21 0.333333 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49108171 49108171 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49108171C>G NA NA CWH43 (44075 upstream) : AC118282.3 (91048 downstream) NA NA NA ccattccattccattccattc 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49108171C>G NA hg19 0.02 -0.342122 ATTxCAT COVERED NOVEL 0 22 8.42732 KEEP 76 0 0 28 975 CC 0.99257 0.871187 0 4 29 150 2 0 13.271167 10 60 342 166 0.285714 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49108213 49108213 __UNKNOWN__ IGR SNP A A T rs377031903 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49108213A>T NA NA CWH43 (44117 upstream) : AC118282.3 (91006 downstream) NA NA NA attccattccattccattccg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49108213A>T NA hg19 0.02 -0.412182 TCCxTTC COVERED NOVEL 0 28 6.152067 KEEP 96 1 33 32 987 AA 0.99257 0.941356 0 3 48 85 0 0 6.586143 13 60 445 219 0.1875 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49121617 49121617 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49121617C>G NA NA CWH43 (57521 upstream) : AC118282.3 (77602 downstream) NA NA NA tcattccattccagttgattc 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49121617C>G NA hg19 0.02 -0.350929 ATTxCAG COVERED NOVEL 0 24 5.114454 KEEP 18 0 0 17 554 CC 0.99649 0.885755 0 3 60 109 1 1 9.071744 12 50 434 90 0.2 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49142580 49142580 __UNKNOWN__ IGR SNP C C T rs189000777 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49142580C>T NA NA CWH43 (78484 upstream) : AC118282.3 (56639 downstream) NA NA NA cgttccgttccgttccgttcc 0.443 NA NA .||| 14 0.00279553 0.0068 0 5008 , , NA 38527 0.004 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49142580C>T NA hg19 0.02 3.85399 TTCxGTT COVERED NOVEL 0 157 12.001881 KEEP 86 2 66 63 2040 CC 1 1 0 4 26 144 0 0 10.332053 44 60 1459 316 0.083333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49146751 49146751 __UNKNOWN__ IGR SNP C C T rs12644251 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49146751C>T NA NA CWH43 (82655 upstream) : AC118282.3 (52468 downstream) NA NA NA cattccattccattccattcc 0.428 NA NA .||| 940 0.1877 0.0847 0.3213 5008 , , NA 24457 0.1389 NA 0.2724 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49146751C>T NA hg19 0.02 -0.421107 TTCxATT COVERED NOVEL 0 30 4.650531 KEEP 62 1 33 27 943 CC 0.999863 0.959727 0 2 60 73 0 0 6.595665 4 10 143 156 0.333333 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49244932 49244932 __UNKNOWN__ IGR SNP C C T rs201474862 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49244932C>T NA NA AC118282.4 (33467 upstream) : AC119751.5 (340109 downstream) NA NA NA CTGATCATTGCTATTTTCTTA 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49244932C>T NA hg19 0.02 6.238468 TTGxTAT COVERED NOVEL 0 3 5.116698 KEEP 1 0 0 17 603 CC 0.999366 0.999366 0 7 60 247 0 0 15.783741 142 60 5182 245 0.04698 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49244950 49244950 __UNKNOWN__ IGR SNP T T C rs201952772 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49244950T>C NA NA AC118282.4 (33485 upstream) : AC119751.5 (340091 downstream) NA NA NA TTATTCGATCTGTAAAGATAA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49244950T>C NA hg19 0.02 6.659852 ATCxGTA COVERED NOVEL 0 3 3.911755 KEEP 1 0 0 13 401 TT 0.994391 0.994391 0 9 60 266 0 0 16.589749 125 60 4404 212 0.067164 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49262877 49262877 __UNKNOWN__ IGR SNP C C G rs61402884 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49262877C>G NA NA AC118282.4 (51412 upstream) : AC119751.5 (322164 downstream) NA NA NA gtcccagctacttgggaggct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49262877C>G NA hg19 0.02 -0.27196 CTAxTTG UNCOVERED NOVEL 0 5 3.009776 KEEP 30 0 0 10 348 CC 0 0 0 4 47 138 0 0 10.532732 27 40 980 75 0.129032 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49263453 49263453 __UNKNOWN__ IGR SNP G G A rs2931906 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49263453G>A NA NA AC118282.4 (51988 upstream) : AC119751.5 (321588 downstream) NA NA NA agccgggcatggtgacatgtg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49263453G>A NA hg19 0.02 -0.385917 CATxGTG COVERED NOVEL 0 11 6.621048 KEEP 2 0 0 22 747 GG 0.999863 0.918045 0 3 35 97 0 0 6.541602 36 50 1276 81 0.076923 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49263470 49263470 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49263470G>T NA NA AC118282.4 (52005 upstream) : AC119751.5 (321571 downstream) NA NA NA tgtgcctgtagtcccagctac 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49263470G>T NA hg19 0.02 -0.368318 GTAxTCC COVERED NOVEL 0 11 5.718643 KEEP 4 0 0 19 668 GG 0.999859 0.899187 0 3 35 107 0 0 7.575123 35 50 1264 76 0.078947 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49268321 49268321 __UNKNOWN__ IGR SNP G G T rs4328890 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49268321G>T NA NA AC118282.4 (56856 upstream) : AC119751.5 (316720 downstream) NA NA NA ggccaacatggtgataccctg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49268321G>T NA hg19 0.02 -0.386005 ATGxTGA COVERED NOVEL 0 8 7.824508 KEEP 9 0 0 26 877 GG 0.999909 0.918088 0 3 40 104 0 0 7.274794 35 60 1243 87 0.078947 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49298560 49298560 __UNKNOWN__ IGR SNP A A C rs9714689 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49298560A>C NA NA AC118282.4 (87095 upstream) : AC119751.5 (286481 downstream) NA NA NA gaaggaaggaaggaaggaaag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49298560A>C NA hg19 0.02 -0.210376 GGAxGGA COVERED NOVEL 0 31 9.661444 KEEP 41 1 34 44 1333 AA 0.999909 0.522114 0 3 60 82 0 0 7.335874 5 40 155 121 0.375 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49315682 49315682 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49315682G>A NA NA AC118282.4 (104217 upstream) : AC119751.5 (269359 downstream) NA NA NA gctactgcatgctgggcttaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49315682G>A NA hg19 0.02 -0.385971 CATxCTG UNCOVERED NOVEL 0 7 4.213682 KEEP 20 0 0 14 485 GG 0 0 0 5 20 170 0 0 12.784932 36 40 1298 71 0.121951 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49499516 49499516 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49499516G>T NA NA AC118282.4 (288051 upstream) : AC119751.5 (85525 downstream) NA NA NA tttttgaactgctgacctcag 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49499516G>T NA hg19 0.02 -0.114009 ACTxCTG UNCOVERED NOVEL 0 1 3.008454 KEEP 5 0 0 10 343 GG 0 0 0 3 48 97 0 0 8.332817 8 54 280 32 0.272727 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49539182 49539182 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49539182T>C NA NA AC118282.4 (327717 upstream) : AC119751.5 (45859 downstream) NA NA NA ctgaaactcctgatctcaagc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49539182T>C NA hg19 0.02 -0.095517 TCCxGAT UNCOVERED NOVEL 0 4 4.513728 KEEP 25 0 0 15 470 TT 0 0 0 3 24 82 0 0 7.281482 5 27 183 51 0.375 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49539230 49539230 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49539230C>T NA NA AC118282.4 (327765 upstream) : AC119751.5 (45811 downstream) NA NA NA gctggaattacaggcatgagc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49539230C>T NA hg19 0.02 -0.16669 TTAxAGG UNCOVERED NOVEL 0 2 3.912674 KEEP 12 0 0 13 449 CC 0 0 0 4 37 138 0 0 11.801119 12 50 439 45 0.25 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49557644 49557644 __UNKNOWN__ IGR SNP C C T rs61626099 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49557644C>T NA NA AC118282.4 (346179 upstream) : AC119751.5 (27397 downstream) NA NA NA gcaacctccacctcctggctt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49557644C>T NA hg19 0.02 -0.026319 CCAxCTC UNCOVERED NOVEL 0 8 2.407772 KEEP 5 0 0 8 274 CC 0 0 0 2 43 68 0 0 6.924689 1 23 38 16 0.666667 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49560017 49560017 __UNKNOWN__ IGR SNP G G C rs200984507 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:49560017G>C NA NA AC118282.4 (348552 upstream) : AC119751.5 (25024 downstream) NA NA NA ttttcttattgtcttctttgt 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.49560017G>C NA hg19 0.02 4.428073 ATTxTCT COVERED NOVEL 0 0 2.407953 KEEP 10 0 0 8 289 GG 0.99257 0.992561 0 39 40 1424 0 0 130.723286 67 60 2475 154 0.367925 0.999991 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 57627340 57627340 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:57627340A>T NA NA HOPX (79275 upstream) : RN7SL492P (33175 downstream) NA NA NA CTAGTATTTTACACCTGAATG 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.57627340A>T NA hg19 0.02 10.250376 TTTxCAC COVERED NOVEL 0 2 9.321852 KEEP 0 0 0 31 882 AA 0.999997 0.999997 0 67 60 2286 0 0 193.324525 216 60 7168 363 0.236749 1 LPHN3 23284 __UNKNOWN__ __UNKNOWN__ 4 62351901 62351901 __UNKNOWN__ Intron SNP A A T rs335291 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:62351901A>T ENST00000514591.1 + 3 156 LPHN3_ENST00000512091.2_Intron Q9HAR2 LPHN3_HUMAN latrophilin 3 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 tgacctcatgatctgcccacc 0.478 NA NA A||| 4056 0.809904 0.553 0.8833 5008 , , NA 16138 0.9613 NA 0.8479 False NA ,,, NA NA NA 2504 0.91 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018311 CCDS54768.1 4q13.1 2014-08-08 ENSG00000150471 23284 -, GPCR / Class B : Orphans 20974 protein-coding gene gene with protein product NA NA 10994649 Standard NM_015236 NA Approved KIAA0768, LEC3 uc010ihh.3 Q9HAR2 ENST00000514591.1:c.-173-10938A>T chr4.hg19:g.62351901A>T NA E9PE04|O94867|Q9NWK5 hg19 CCDS54768.1 0.02 -0.052383 ATGxTCT UNCOVERED NOVEL LPHN3-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000361765.1 3 2.70786 KEEP 2 0 0 9 275 AA 0 0 0 + 2 49 70 0 0 6.30184 4 60 112 21 ENST00000514591.1 0.333333 0.036766 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 68264747 68264747 __UNKNOWN__ IGR SNP C C G rs12152642 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:68264747C>G NA NA RNU6-699P (501658 upstream) : RP11-584P21.2 (18275 downstream) NA NA NA ttccaaactgctcaatcaaaa 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.68264747C>G NA hg19 0.02 -0.2281 CTGxTCA COVERED NOVEL 0 9 2.708411 KEEP 4 0 0 9 304 CC 0.99254 0.578582 0 2 60 77 0 0 7.824909 1 60 36 46 0.666667 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 68265924 68265924 __UNKNOWN__ IGR SNP G G A rs6843343|rs36178933 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:68265924G>A NA NA RNU6-699P (502835 upstream) : RP11-584P21.2 (17098 downstream) NA NA NA acaaaaagaggttttcacatc 0.343 NA NA -||| 4697 0.937899 0.8638 0.9611 5008 , , NA 136978 0.9831 NA 0.9404 False NA ,,, NA NA NA 2504 0.9724 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.68265924G>A NA hg19 0.02 6.186285 GAGxTTT COVERED NOVEL 0 58 18.958667 KEEP 46 0 0 63 2123 GG 1 1 0 5 60 157 0 0 16.910545 1 22 28 455 0.833333 1 ANTXR2 118429 __UNKNOWN__ __UNKNOWN__ 4 80824525 80824525 __UNKNOWN__ 3'UTR SNP T T A rs75657044 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:80824525T>A ENST00000403729.2 - 0 6050 NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 NA NA reproductive process (GO:0022414) endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|receptor activity (GO:0004872) endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 tctctctctctcACACACACA 0.353 NA NA Juvenile Hyaline Fibromatosis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl. Infantile Systemic Hyalinosis AY040326 CCDS47085.1, CCDS47086.1, CCDS68733.1 4q21.3 2004-01-15 ENSG00000163297 ENSG00000163297 118429 21732 protein-coding gene gene with protein product capillary morphogenesis protein 2 608041 NA 11683410, 12700348 Standard NM_058172 NM_058172 NA Approved CMG2, CMG-2, FLJ31074 uc003hlz.4 P58335 OTTHUMG00000151982 ENST00000403729.2:c.*4058A>T chr4.hg19:g.80824525T>A NA Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7 hg19 CCDS47085.1 0.02 1.891987 CTCxCAC COVERED NOVEL ANTXR2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324666.2 5 3.04135 KEEP 0 1 19 17 509 TT 0.99986 0.995547 0 - 5 60 172 0 0 11.832444 63 60 2128 93 ENST00000403729.2 0.073529 0.995687 SLC9B1 150159 __UNKNOWN__ __UNKNOWN__ 4 103827955 103827955 __UNKNOWN__ Intron SNP A A T rs201299019 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:103827955A>T ENST00000296422.7 - 10 1228 SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Intron NM_139173.3 NP_631912 Q4ZJI4 SL9B1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 NA NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) solute:proton antiporter activity (GO:0015299) NA tggcataatcatagctcactg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF447585 CCDS34041.1, CCDS47119.1 4q24 2013-05-22 2012-03-22 2011-07-26 ENSG00000164037 ENSG00000164037 150159 Solute carriers 24244 protein-coding gene gene with protein product 611527 Na+/H+ exchanger domain containing 1, solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 NHEDC1 NA 16850186 Standard NM_139173 NM_139173 NA Approved NHA1 uc003hww.3 Q4ZJI4 OTTHUMG00000161114 ENST00000296422.7:c.1087-154T>A chr4.hg19:g.103827955A>T NA A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0 hg19 CCDS34041.1 0.02 -0.061412 ATCxTAG UNCOVERED NOVEL SLC9B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363841.1 6 2.4071 KEEP 8 0 0 8 242 AA 0 0 0 - 2 24 73 0 0 6.435512 5 50 180 21 ENST00000296422.7 0.285714 0.043787 ETNPPL 64850 __UNKNOWN__ __UNKNOWN__ 4 109667495 109667495 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:109667495G>T ENST00000510706.1 - 11 1480 ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000411864.2_Intron|ETNPPL_ENST00000296486.3_Intron Q8TBG4 AT2L1_HUMAN ethanolamine-phosphate phospho-lyase NA NA mitochondrion (GO:0005739) ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) NA CTAGACCAGGGTTTGAGGGGT 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ298293 CCDS3682.1, CCDS54792.1, CCDS54793.1 4q25 2013-06-12 2013-06-12 2013-06-12 ENSG00000164089 ENSG00000164089 64850 4.2.3.2 14404 protein-coding gene gene with protein product 614682 alanine-glyoxylate aminotransferase 2-like 1 AGXT2L1 NA 7592550, 22241472 Standard NM_031279 NM_031279 NA Approved uc003hzc.3 Q8TBG4 OTTHUMG00000161036 ENST00000510706.1:c.1183+59C>A chr4.hg19:g.109667495G>T NA B7Z1Y0|E9PBY0|Q9H174 hg19 0.02 2.062697 AGGxTTT COVERED NOVEL ETNPPL-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363507.1 0 3.611706 KEEP 0 0 0 12 417 GG 0.993634 0.981653 0 - 27 60 889 0 0 83.878826 33 60 1152 91 ENST00000510706.1 0.45 0.987943 NDST4 64579 __UNKNOWN__ __UNKNOWN__ 4 115850193 115850193 __UNKNOWN__ Intron SNP T T C rs116086762 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:115850193T>C ENST00000264363.2 - 6 2215 NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 NA NA heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) [heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) tctgtctgtctgtctgtccgt 0.478 NA NA T||| 6 0.00119808 0.0023 0.0014 5008 , , NA 19128 0 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB036429 CCDS3706.1 4q26 2008-02-05 ENSG00000138653 ENSG00000138653 64579 Sulfotransferases, membrane-bound 20779 protein-coding gene gene with protein product 615039 NA 11087757 Standard NM_022569 NM_022569 NA Approved uc003ibu.3 Q9H3R1 OTTHUMG00000132916 ENST00000264363.2:c.1536+6168A>G chr4.hg19:g.115850193T>C NA Q2KHM8 hg19 CCDS3706.1 0.02 -0.184228 GTCxGTC COVERED NOVEL NDST4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256427.1 1 3.61068 KEEP 0 0 0 12 364 TT 0.993634 0.420782 0 - 4 60 126 0 0 10.368041 14 60 507 48 ENST00000264363.2 0.222222 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 117519664 117519664 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:117519664C>A NA NA RP11-55L3.1 (83362 upstream) : RNU6-119P (240770 downstream) NA NA NA CCCCCTTCAACAACTGGATGG 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.117519664C>A NA hg19 0.02 1.747167 CAAxAAC COVERED NOVEL 0 1 3.611736 KEEP 0 0 0 12 418 CC 0.993634 0.993564 0 38 60 1330 0 0 123.401698 57 60 2051 131 0.4 0.99993 QRFPR 84109 __UNKNOWN__ __UNKNOWN__ 4 122301359 122301359 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:122301359A>G ENST00000394427.2 - 1 752 QRFPR_ENST00000334383.5_Intron NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor NA NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983) endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 agagagagagagagagagaga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF411117 CCDS3719.1 4q27 2012-08-10 2008-12-18 2008-12-18 ENSG00000186867 ENSG00000186867 84109 GPCR / Class A : RF amide peptide receptors 15565 protein-coding gene gene with protein product 606925 G protein-coupled receptor 103 GPR103 NA 11574155 Standard NM_198179 NM_198179 NA Approved uc010inj.1 Q96P65 OTTHUMG00000133036 ENST00000394427.2:c.340+103T>C chr4.hg19:g.122301359A>G NA hg19 CCDS3719.1 0.02 -0.359111 GAGxGAG COVERED NOVEL QRFPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256641.2 2 4.212116 KEEP 0 0 0 14 426 AA 0.995343 0.884736 0 - 6 60 190 0 0 15.25407 25 60 790 68 ENST00000394427.2 0.193548 0.888875 LARP1B 55132 __UNKNOWN__ __UNKNOWN__ 4 129029724 129029724 __UNKNOWN__ Intron SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:129029724T>A ENST00000512292.1 + 9 1181 LARP1B_ENST00000432347.2_3'UTR|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000394288.3_3'UTR|LARP1B_ENST00000427266.1_Intron|LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000354456.3_Intron|LARP1B_ENST00000326639.6_Intron Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B NA NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 ATATGTTTCTTTGTCAGCCTT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3738.1, CCDS47133.1, CCDS64057.1 4q28.2 2009-06-09 2009-06-09 2009-06-09 ENSG00000138709 ENSG00000138709 55132 La ribonucleoprotein domain containing 24704 protein-coding gene gene with protein product NA La ribonucleoprotein domain family, member 2 LARP2 NA 12045101 Standard NM_018078 NM_018078 NA Approved FLJ10378, DKFZp434K245, DKFZp686E0316 uc003iga.3 Q659C4 OTTHUMG00000133343 ENST00000512292.1:c.988+1256T>A chr4.hg19:g.129029724T>A NA Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12 hg19 0.02 3.904411 TCTxTGT COVERED NOVEL LARP1B-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000364011.1 2 4.812526 KEEP 0 0 0 16 470 TT 0.997832 0.997832 0 + 61 60 2063 0 0 192.539689 84 60 2916 189 ENST00000512292.1 0.42069 1 GYPE 2996 __UNKNOWN__ __UNKNOWN__ 4 144801497 144801497 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:144801497C>T ENST00000358615.4 - 2 188 GYPE_ENST00000437468.2_Intron NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) NA NA integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) GACAGGTCCCCTAAAATAGGG 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47138.1 4q31.21 2010-01-19 2010-01-19 ENSG00000197465 ENSG00000197465 2996 Blood group antigens 4705 protein-coding gene gene with protein product 138590 glycophorin E NA Standard NM_002102 NM_198682 NA Approved GPE, MNS uc003ijj.3 P15421 OTTHUMG00000161402 ENST00000358615.4:c.136+66G>A chr4.hg19:g.144801497C>T NA D3DNZ5 hg19 CCDS47138.1 0.02 4.475292 CCCxTAA COVERED NOVEL GYPE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364780.1 0 2.70808 KEEP 1 0 0 9 284 CC 0.99254 0.992536 0 - 7 33 261 0 0 18.099463 104 60 3605 134 ENST00000358615.4 0.063063 0.999996 NPY2R 4887 __UNKNOWN__ __UNKNOWN__ 4 156135855 156135855 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:156135855C>T ENST00000329476.3 + 2 1253 c.764C>T c.(763-765)gCa>gTa p.A255V NPY2R_ENST00000506608.1_Missense_Mutation_p.A255V NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 255 NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) Cysteamine(DB00847) CCTGGAGCTGCAAATGACCAC 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 104 106 105 NA NA NA 4 NA NA 156135855 2203 4300 6503 SO:0001583 missense U42766 CCDS3791.1 4q31 2012-08-08 ENSG00000185149 4887 GPCR / Class A : Neuropeptide receptors : Y 7957 protein-coding gene gene with protein product 162642 NA 7559383 Standard NM_000910 NM_000910 NA Approved uc003ioq.3 P49146 ENST00000329476.3:c.764C>T chr4.hg19:g.156135855C>T ENSP00000332591:p.Ala255Val NA Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67 hg19 CCDS3791.1 0.02 5.748273 CTGxAAA COVERED . . . . . . . . . . C 11.85 1.761467 0.31228 . . ENSG00000185149 ENST00000329476;ENST00000506608 T;T 0.37411 1.2;1.2 5.8 5.8 0.92144 GPCR, rhodopsin-like superfamily (1); 0.387116 0.29579 N 0.011754 T 0.28599 0.0708 N 0.25825 0.765 0.30458 N 0.774606 B 0.21905 0.062 B 0.27608 0.081 T 0.15549 -1.0433 10 0.29301 T 0.29 . 13.9144 0.63887 0.0:0.7475:0.2525:0.0 . 255 P49146 NPY2R_HUMAN V 255 ENSP00000332591:A255V;ENSP00000426366:A255V ENSP00000332591:A255V A + 2 0 NPY2R 156355305 0.902000 0.30710 0.922000 0.36590 0.470000 0.32858 2.211000 0.42825 2.742000 0.94016 0.643000 0.83706 GCA NOVEL NPY2R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365128.1 1 4.213517 KEEP 0 0 0 14 482 CC 0.995343 0.995343 0 + 62 60 2023 0 0 183.048293 110 60 3950 203 ENST00000329476.3 0.360465 1 RAPGEF2 9693 __UNKNOWN__ __UNKNOWN__ 4 160277113 160277113 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:160277113C>G ENST00000264431.4 + 23 4696 c.4277C>G c.(4276-4278)cCg>cGg p.P1426R NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1426 NA adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202) beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) AGGAAACCGCCGGACTACAAC 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 24 23 NA NA NA 4 NA NA 160277113 2001 4164 6165 SO:0001583 missense AB002311 CCDS43277.1 4q32.1 2004-03-01 2004-03-01 2004-03-01 9693 16854 protein-coding gene gene with protein product Rap GEP 609530 PDZ domain containing guanine nucleotide exchange factor (GEF) 1 PDZGEF1 NA 9205841, 10934204 Standard NM_014247 NM_014247 NA Approved PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313 uc003iqg.4 Q9Y4G8 ENST00000264431.4:c.4277C>G chr4.hg19:g.160277113C>G ENSP00000264431:p.Pro1426Arg NA D3DP27 hg19 CCDS43277.1 0.02 4.258262 CGCxGGA COVERED . . . . . . . . . . C 17.35 3.368721 0.61624 . . ENSG00000109756 ENST00000264431 T 0.71222 -0.55 5.56 5.56 0.83823 . 0.000000 0.85682 D 0.000000 D 0.82912 0.5140 L 0.58810 1.83 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.83973 0.0328 10 0.87932 D 0 . 19.504 0.95108 0.0:1.0:0.0:0.0 . 1426 Q9Y4G8 RPGF2_HUMAN R 1426 ENSP00000264431:P1426R ENSP00000264431:P1426R P + 2 0 RAPGEF2 160496563 1.000000 0.71417 0.201000 0.23476 0.086000 0.17979 7.120000 0.77153 2.606000 0.88127 0.563000 0.77884 CCG NOVEL RAPGEF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364980.2 0 13.734192 KEEP 0 0 0 46 1450 CC 1 0.999997 0 + 45 60 1464 0 0 134.220628 71 60 2413 211 ENST00000264431.4 0.387931 0.999997 SH3RF1 57630 __UNKNOWN__ __UNKNOWN__ 4 170190133 170190133 __UNKNOWN__ Silent SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:170190133T>C ENST00000284637.9 - 2 572 c.231A>G c.(229-231)aaA>aaG p.K77K SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 77 NA negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328) cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) AAGGCCTCTGTTTGATGCCAT 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 92 78 83 NA NA NA 4 NA NA 170190133 2203 4300 6503 SO:0001819 synonymous_variant BC033203 CCDS34099.1 4q32.3 2013-01-09 2006-02-13 2006-02-13 ENSG00000154447 ENSG00000154447 57630 RING-type (C3HC4) zinc fingers 17650 protein-coding gene gene with protein product plenty of SH3 domains NA SH3 multiple domains 2 SH3MD2 NA 9482736 Standard NM_020870 NM_020870 NA Approved POSH, RNF142, KIAA1494 uc003isa.1 Q7Z6J0 OTTHUMG00000161010 ENST00000284637.9:c.231A>G chr4.hg19:g.170190133T>C NA Q05BT2|Q8IW46|Q9HAM2|Q9P234 hg19 CCDS34099.1 0.02 4.390958 CTGxTTG COVERED NOVEL SH3RF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363382.3 1 16.546605 KEEP 0 0 0 55 1638 TT 1 1 0 - 51 60 1838 0 0 169.26605 84 60 2821 222 ENST00000284637.9 0.377778 1 SPATA4 132851 __UNKNOWN__ __UNKNOWN__ 4 177113770 177113770 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:177113770A>G ENST00000280191.2 - 4 797 SPATA4_ENST00000515234.1_Intron NM_144644.2 NP_653245.2 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 NA NA cytoplasm (GO:0005737) NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10) 22 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) TTTCAAAGGAAAACTTACCTG 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 54 59 57 NA NA NA 4 NA NA 177113770 2203 4300 6503 SO:0001627 intron_variant AY040204 CCDS3826.1 4q34.2 2008-02-05 ENSG00000150628 ENSG00000150628 132851 17333 protein-coding gene gene with protein product 609879 NA Standard NM_144644 NM_144644 NA Approved TSARG2, SPEF1B uc003iuo.1 Q8NEY3 OTTHUMG00000160788 ENST00000280191.2:c.688+7T>C chr4.hg19:g.177113770A>G NA Q8NCS5|Q8WW15 hg19 CCDS3826.1 0.02 4.663106 GGAxAAC COVERED NOVEL SPATA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362326.1 3 6.017822 KEEP 0 0 0 20 628 AA 0.999863 0.999847 0 - 45 60 1668 0 0 157.877243 57 60 1972 143 ENST00000280191.2 0.441176 0.999984 NEIL3 55247 __UNKNOWN__ __UNKNOWN__ 4 178231256 178231256 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:178231256C>T ENST00000264596.3 + 1 267 c.149C>T c.(148-150)tCc>tTc p.S50F NM_018248.2 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 50 NA base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289) nucleus (GO:0005634) bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) GTTGTGGTCTCCCCGCAGGTG 0.632 NA NA Base excision repair (BER), DNA glycosylases NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 10 11 11 NA NA NA 4 NA NA 178231256 2193 4280 6473 SO:0001583 missense AB079071 CCDS3828.1 4q34 2014-02-18 ENSG00000109674 ENSG00000109674 55247 24573 protein-coding gene gene with protein product zinc finger, GRF-type containing 3 608934 NA 12713815, 12509226 Standard NM_018248 NM_018248 NA Approved FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3 uc003iut.2 Q8TAT5 OTTHUMG00000160722 ENST00000264596.3:c.149C>T chr4.hg19:g.178231256C>T ENSP00000264596:p.Ser50Phe NA Q2PPJ3|Q8NG51|Q9NV95 hg19 CCDS3828.1 0.02 1.926888 TCTxCCC COVERED . . . . . . . . . . C 12.69 2.014283 0.35511 . . ENSG00000109674 ENST00000264596 T 0.24908 1.83 4.73 3.88 0.44766 DNA glycosylase/AP lyase, catalytic domain (1); 1.847910 0.02096 N 0.053548 T 0.18299 0.0439 N 0.22421 0.69 0.09310 N 1 B 0.15719 0.014 B 0.09377 0.004 T 0.26950 -1.0088 10 0.09590 T 0.72 -1.6933 8.1288 0.31014 0.0:0.8935:0.0:0.1065 . 50 Q8TAT5 NEIL3_HUMAN F 50 ENSP00000264596:S50F ENSP00000264596:S50F S + 2 0 NEIL3 178468250 0.002000 0.14202 0.005000 0.12908 0.018000 0.09664 0.804000 0.27098 2.612000 0.88384 0.655000 0.94253 TCC NOVEL NEIL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361914.1 0 3.912098 KEEP 0 0 0 13 422 CC 0.994391 0.987356 0 + 34 60 1145 0 0 111.505986 30 60 1003 96 ENST00000264596.3 0.53125 0.992926 CDKN2AIP 55602 __UNKNOWN__ __UNKNOWN__ 4 184367707 184367707 __UNKNOWN__ Silent SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:184367707G>A ENST00000504169.1 + 3 1077 c.870G>A c.(868-870)gtG>gtA p.V290V CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 290 Ser-rich. NA negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647) cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) p53 binding (GO:0002039)|RNA binding (GO:0003723) endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AGATCGAGGTGCCCTTGTTGG 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 62 62 62 NA NA NA 4 NA NA 184367707 2203 4300 6503 SO:0001819 synonymous_variant AK000043 CCDS34110.1 4q35.1 2008-02-05 ENSG00000168564 ENSG00000168564 55602 24325 protein-coding gene gene with protein product collaborates/cooperates with ARF (alternate reading frame) protein 615914 NA 12154087, 16803988 Standard NM_017632 NM_017632 NA Approved FLJ20036, CARF uc003ivp.1 Q9NXV6 OTTHUMG00000160626 ENST00000504169.1:c.870G>A chr4.hg19:g.184367707G>A NA Q8TBM5|Q9NYH0 hg19 CCDS34110.1 0.02 16.874307 GGTxCCC COVERED NOVEL CDKN2AIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361488.1 0 27.376958 KEEP 0 0 0 91 3034 GG 1 1 0 + 192 60 6116 0 0 562.74578 289 60 10189 659 ENST00000504169.1 0.399168 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190202827 190202827 __UNKNOWN__ IGR SNP C C T rs11731848 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190202827C>T NA NA RP11-706F1.1 (76796 upstream) : RP11-706F1.2 (7003 downstream) NA NA NA agaaaggtggctgcagtgaga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.190202827C>T NA hg19 0.02 2.057358 TGGxTGC COVERED NOVEL 0 0 3.310763 KEEP 4 0 0 11 383 CC 0.993072 0.990642 0 8 54 250 0 0 19.961828 34 60 1190 100 0.190476 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190517323 190517323 __UNKNOWN__ IGR SNP C C T rs112888100 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190517323C>T NA NA HSP90AA4P (120979 upstream) : RP11-462G22.1 (63435 downstream) NA NA NA aggctggtctcgagctcctga 0.517 NA NA C||| 1 0.000199681 0 0 5008 , , NA 15881 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.190517323C>T NA hg19 0.02 -0.254382 TCTxGAG COVERED NOVEL 0 8 3.611367 KEEP 2 0 0 12 395 CC 0.992708 0.663648 0 4 60 129 0 0 10.90158 12 60 405 48 0.25 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190653770 190653770 __UNKNOWN__ IGR SNP G G A rs71220188 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190653770G>A NA NA RNU1-51P (22902 upstream) : AF250324.1 (86052 downstream) NA NA NA caagcccctagggtgggtgga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.190653770G>A NA hg19 0.02 -0.184231 CTAxGGT COVERED NOVEL 0 3 2.708871 KEEP 0 0 0 9 319 GG 0.99254 0.420319 0 5 60 170 0 0 14.501425 15 60 546 34 0.25 0.423478 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190876269 190876269 __UNKNOWN__ Missense_Mutation SNP T T C rs149113074 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190876269T>C ENST00000226798.4 + 5 617 c.395T>C c.(394-396)aTt>aCt p.I132T FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 132 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) p.I132T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TCAGATGCAATTGGACCAAGA 0.358 NA NA .||| 2 0.000399361 8e-04 0.0014 5008 , , NA 20498 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 1 Substitution - Missense(1) skin(1) 91 91 91 NA NA NA 4 NA NA 190876269 2203 4300 6503 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.395T>C chr4.hg19:g.190876269T>C ENSP00000226798:p.Ile132Thr NA A8K775 hg19 CCDS34121.1 0.02 31.382942 CAAxTGG COVERED . . . . . . . . . . . 18.71 3.681993 0.68042 . . ENSG00000109536 ENST00000226798;ENST00000531991 T;T 0.50277 1.91;0.75 4.04 4.04 0.47022 Actin cross-linking (1); 0.133249 0.64402 N 0.000004 T 0.58337 0.2115 M 0.85542 2.76 0.80722 D 1 B 0.26809 0.16 B 0.38683 0.279 T 0.63769 -0.6562 10 0.62326 D 0.03 2.1537 11.3071 0.49342 0.0:0.0:0.0:1.0 . 132 Q14331 FRG1_HUMAN T 132;69 ENSP00000226798:I132T;ENSP00000435943:I69T ENSP00000226798:I132T I + 2 0 FRG1 191113263 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 7.497000 0.81536 1.599000 0.50093 0.462000 0.41574 ATT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 14 16.200696 KEEP 8 7 253 142 4646 TT 1 1 0 + 19 60 704 0 0 47.094272 345 60 12150 1075 ENST00000226798.4 0.052198 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878419 190878419 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190878419T>C ENST00000226798.4 + 6 654 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) tcttgtattatatttttcagg 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.433-134T>C chr4.hg19:g.190878419T>C NA A8K775 hg19 CCDS34121.1 0.02 18.178591 TTAxATT COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 9 6.899872 KEEP 4 0 0 23 591 TT 0.999892 0.999892 0 + 11 40 393 1 0 24.75725 250 60 8453 495 ENST00000226798.4 0.042146 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878577 190878577 __UNKNOWN__ Missense_Mutation SNP A A G rs200267221 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190878577A>G ENST00000226798.4 + 6 679 c.457A>G c.(457-459)Aat>Gat p.N153D FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 153 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GTTGGCCTCAAATAGCTGCTT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 14 18 17 NA NA NA 4 NA NA 190878577 2154 4261 6415 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.457A>G chr4.hg19:g.190878577A>G ENSP00000226798:p.Asn153Asp NA A8K775 hg19 CCDS34121.1 0.02 38.032888 TCAxATA COVERED . . . . . . . . . . . 16.34 3.096595 0.56075 . . ENSG00000109536 ENST00000226798;ENST00000524583;ENST00000531991 T;T 0.50548 1.75;0.74 4.19 2.99 0.34606 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.62950 0.2470 M 0.88105 2.93 0.58432 D 0.999994 P 0.35033 0.481 P 0.49085 0.6 T 0.60182 -0.7313 10 0.38643 T 0.18 -7.9248 8.2154 0.31507 0.9006:0.0:0.0994:0.0 . 153 Q14331 FRG1_HUMAN D 153;25;90 ENSP00000226798:N153D;ENSP00000435943:N90D ENSP00000226798:N153D N + 1 0 FRG1 191115571 1.000000 0.71417 1.000000 0.80357 0.430000 0.31655 9.035000 0.93752 0.593000 0.29745 -0.580000 0.04137 AAT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 20 49.317293 KEEP 54 0 0 164 5041 AA 1 1 0 + 36 50 1321 1 0 86.298275 727 60 25096 1194 ENST00000226798.4 0.047182 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878589 190878589 __UNKNOWN__ Missense_Mutation SNP A A G rs561930100 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190878589A>G ENST00000226798.4 + 6 691 c.469A>G c.(469-471)Att>Gtt p.I157V FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 157 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TAGCTGCTTTATTAGATGCAA 0.363 NA NA .||| 11 0.00219649 0.0015 0.0058 5008 , , NA 28209 0.001 NA 0.004 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 15 18 17 NA NA NA 4 NA NA 190878589 2157 4266 6423 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.469A>G chr4.hg19:g.190878589A>G ENSP00000226798:p.Ile157Val NA A8K775 hg19 CCDS34121.1 0.02 38.815129 TTTxTTA COVERED . . . . . . . . . . . 10.14 1.269261 0.23221 . . ENSG00000109536 ENST00000226798;ENST00000524583;ENST00000531991 T;T 0.42900 2.02;0.96 4.19 4.19 0.49359 Actin cross-linking (1); 0.049103 0.85682 D 0.000000 T 0.25938 0.0632 L 0.28014 0.82 0.48696 D 0.999699 B 0.09022 0.002 B 0.18871 0.023 T 0.08086 -1.0739 10 0.20519 T 0.43 -23.3336 6.6273 0.22837 0.8897:0.0:0.1103:0.0 . 157 Q14331 FRG1_HUMAN V 157;29;94 ENSP00000226798:I157V;ENSP00000435943:I94V ENSP00000226798:I157V I + 1 0 FRG1 191115583 1.000000 0.71417 1.000000 0.80357 0.727000 0.41649 5.196000 0.65136 1.677000 0.50941 0.373000 0.22412 ATT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 20 40.091227 KEEP 41 5 147 185 5503 AA 1 1 0 + 37 50 1279 0 0 81.300034 728 60 24538 1233 ENST00000226798.4 0.048366 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878626 190878626 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190878626G>A ENST00000226798.4 + 6 728 c.506G>A c.(505-507)aGt>aAt p.S169N FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 169 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) p.S169N(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GAAGCAAAAAGTAAAACAGCA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) skin(1) 49 46 47 NA NA NA 4 NA NA 190878626 2184 4282 6466 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.506G>A chr4.hg19:g.190878626G>A ENSP00000226798:p.Ser169Asn NA A8K775 hg19 CCDS34121.1 0.02 36.125139 AAAxTAA COVERED . . . . . . . . . . . 14.80 2.642895 0.47153 . . ENSG00000109536 ENST00000226798;ENST00000524583;ENST00000531991 T;T 0.48522 1.77;0.81 4.19 2.41 0.29592 Actin cross-linking (1); 0.160510 0.64402 N 0.000002 T 0.36552 0.0971 N 0.17723 0.515 0.45777 D 0.998661 P 0.35982 0.531 P 0.45406 0.479 T 0.07578 -1.0765 10 0.30854 T 0.27 0.1847 7.6816 0.28518 0.219:0.0:0.781:0.0 . 169 Q14331 FRG1_HUMAN N 169;41;106 ENSP00000226798:S169N;ENSP00000435943:S106N ENSP00000226798:S169N S + 2 0 FRG1 191115620 1.000000 0.71417 1.000000 0.80357 0.849000 0.48306 1.784000 0.38674 0.340000 0.23745 0.454000 0.30748 AGT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 9 44.339742 KEEP 12 6 193 215 7545 GG 1 1 0 + 34 60 1172 0 0 71.683435 813 60 29296 1348 ENST00000226798.4 0.040142 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878693 190878693 __UNKNOWN__ Intron SNP C C A rs376321648 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190878693C>A ENST00000226798.4 + 6 759 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ACTGCATTCACACATGCGATG 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 17 14 15 NA NA NA 4 NA NA 190878693 2115 4182 6297 SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.537+36C>A chr4.hg19:g.190878693C>A NA A8K775 hg19 CCDS34121.1 0.02 30.674112 TCAxACA COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 7 46.78099 KEEP 27 1 30 166 5718 CC 1 1 0 + 26 60 841 0 0 47.138763 774 60 28030 1195 ENST00000226798.4 0.0325 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190880952 190880952 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190880952T>G ENST00000226798.4 + 7 759 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ACCTGGAAGCTCTGAACAGTG 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.538-951T>G chr4.hg19:g.190880952T>G NA A8K775 hg19 CCDS34121.1 0.02 5.789233 AGCxCTG COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 2 9.057149 KEEP 14 1 34 42 1222 TT 1 1 0 + 11 40 320 0 0 20.825516 122 60 4268 354 ENST00000226798.4 0.082707 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190893895 190893895 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190893895G>A NA NA FRG1 (9536 upstream) : RNA5SP174 (42397 downstream) NA NA NA ggcaaaggcagaggtgccaga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.190893895G>A NA hg19 0.02 -0.350915 GCAxAGG COVERED NOVEL 0 6 4.201006 KEEP 0 0 0 14 437 GG 0.995343 0.87362 0 3 60 102 0 0 7.705461 21 60 741 68 0.125 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190893941 190893941 __UNKNOWN__ IGR SNP C C T rs145640646 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190893941C>T NA NA FRG1 (9582 upstream) : RNA5SP174 (42351 downstream) NA NA NA ctgcagggcactgtgattgtg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.190893941C>T NA hg19 0.02 -0.333356 GCAxTGT COVERED NOVEL 0 3 3.309834 KEEP 0 0 0 11 354 CC 0.993072 0.846082 0 3 60 104 0 0 8.672456 11 60 405 66 0.214286 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190896496 190896496 __UNKNOWN__ IGR SNP G G A rs200424429 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190896496G>A NA NA FRG1 (12137 upstream) : RNA5SP174 (39796 downstream) NA NA NA gaacctgggaggtggaggttg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.190896496G>A NA hg19 0.02 2.214009 GGAxGTG COVERED NOVEL 0 53 2.89326 KEEP 8 3 95 43 1413 GG 1 0.973965 0 4 40 137 0 0 12.291169 8 60 290 142 0.333333 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190904414 190904414 __UNKNOWN__ IGR SNP T T C rs199957254 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190904414T>C NA NA FRG1 (20055 upstream) : RNA5SP174 (31878 downstream) NA NA NA TATGAGCTGGTGGACTGAGAG 0.507 NA NA .||| 267 0.0533147 0.0189 0.0692 5008 , , NA 20890 0.0417 NA 0.0676 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA NA 0 25 41 35 NA NA NA 4 NA NA 190904414 1890 4038 5928 SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.190904414T>C NA hg19 0.02 2.108906 TGGxGGA COVERED NOVEL 0 0 2.407138 KEEP 3 0 0 8 248 TT 0.99257 0.987034 0 9 46 288 0 0 21.681927 57 50 1957 100 0.136364 0.994422 FRG2 448831 __UNKNOWN__ __UNKNOWN__ 4 190946008 190946008 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr4:190946008G>A ENST00000378763.1 - 0 1597 FRG2_ENST00000504750.1_3'UTR NM_001005217.1|NM_001199232.1 NP_001005217.1|NP_001186161.1 Q64ET8 FRG2_HUMAN FSHD region gene 2 NA NA nucleus (GO:0005634) large_intestine(1)|lung(3)|ovary(2)|skin(1) 7 all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513) all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155) GGTTCAGGCTGGAAGAGTGAG 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34123.1, CCDS68834.1 4q35.2 2014-09-04 ENSG00000205097 ENSG00000205097 448831 19136 protein-coding gene gene with protein product 609032 NA 12176321, 15520407 Standard NM_001005217 NM_001005217 NA Approved FRG2A Q64ET8 OTTHUMG00000160339 ENST00000378763.1:c.*708C>T chr4.hg19:g.190946008G>A NA B7ZMJ1|E7EN36 hg19 CCDS34123.1 0.02 8.724682 GCTxGAA COVERED NOVEL FRG2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000360294.1 64 4.113487 KEEP 173 3 86 44 1470 GG 0.999988 0.999988 0 - 24 31 836 0 0 63.358327 173 60 6127 544 ENST00000378763.1 0.121827 1 CCDC127 133957 __UNKNOWN__ __UNKNOWN__ 5 216754 216754 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:216754C>T ENST00000296824.3 - 2 254 CTD-2083E4.4_ENST00000565521.1_RNA NM_145265.2 NP_660308.1 Q96BQ5 CC127_HUMAN coiled-coil domain containing 127 NA NA breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 all cancers(22;0.0236)|Lung(60;0.113) aaagtcacggccttcaggctc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098567 CCDS3852.1 5p15.33 2008-02-05 ENSG00000164366 ENSG00000164366 133957 30520 protein-coding gene gene with protein product NA NA 12477932 Standard NM_145265 NM_145265 NA Approved FLJ25701 uc003jam.1 Q96BQ5 OTTHUMG00000161586 ENST00000296824.3:c.121+89G>A chr5.hg19:g.216754C>T NA hg19 CCDS3852.1 0.02 1.534689 CGGxCTT COVERED NOVEL CCDC127-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365459.2 0 4.814905 KEEP 47 0 0 16 537 CC 0.992708 0.992388 0 - 15 49 478 0 0 37.675633 71 50 2449 158 ENST00000296824.3 0.174419 0.999678 TPPP 11076 __UNKNOWN__ __UNKNOWN__ 5 663092 663092 __UNKNOWN__ 3'UTR SNP C C T rs9918259 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:663092C>T ENST00000360578.5 - 0 2906 CEP72_ENST00000514507.1_Intron NM_007030.2 NP_008961.1 O94811 TPPP_HUMAN tubulin polymerization promoting protein NA NA microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) microtubule binding (GO:0008017)|tubulin binding (GO:0015631) kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) CGGGTGATTCCGATGACTGCT 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB017016 CCDS3856.1 5p15.33 2008-02-05 ENSG00000171368 ENSG00000171368 11076 24164 protein-coding gene gene with protein product brain specific protein p25 alpha 608773 NA 10083737, 12093283, 15590652, 17105200 Standard NM_007030 NM_007030 NA Approved p25alpha, TPPP1, p25, TPPP/p25 uc003jbh.4 O94811 OTTHUMG00000131011 ENST00000360578.5:c.*2125G>A chr5.hg19:g.663092C>T NA hg19 CCDS3856.1 0.02 6.350344 TTCxGAT COVERED NOVEL TPPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253645.3 0 3.912394 KEEP 4 0 0 13 431 CC 0.994391 0.994391 0 - 13 47 459 0 0 32.188438 157 60 5037 249 ENST00000360578.5 0.076471 1 ZDHHC11B 653082 __UNKNOWN__ __UNKNOWN__ 5 751229 751229 __UNKNOWN__ Intron SNP G G T rs200795910 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:751229G>T ENST00000508859.2 - 4 661 ZDHHC11_ENST00000424784.2_Intron|ZDHHC11B_ENST00000382776.4_Intron P0C7U3 ZH11B_HUMAN zinc finger, DHHC-type containing 11B NA NA integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) lung(3)|stomach(1) 4 GAGGCCCCTTGAGAGCGGCGG 0.667 NA NA .||| 1246 0.248802 0.5212 0.1715 5008 , , NA 7747 0.2063 NA 0.1233 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 5p15.33 2007-01-29 ENSG00000206077 653082 Zinc fingers, DHHC-type 32962 protein-coding gene gene with protein product NA NA Standard XM_926053 XM_003118532 NA Approved P0C7U3 ENST00000508859.2:c.661+18C>A chr5.hg19:g.751229G>T NA A6NHR3 hg19 0.02 14.338533 CTTxAGA COVERED NOVEL ZDHHC11B-001 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000367532.2 1 3.308545 KEEP 32 0 0 11 336 GG 0.992708 0.992708 0 - 36 60 1215 0 0 93.213231 225 50 8104 439 ENST00000508859.2 0.137931 1 ZDHHC11B 653082 __UNKNOWN__ __UNKNOWN__ 5 751235 751235 __UNKNOWN__ Intron SNP G G A rs71273552 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:751235G>A ENST00000508859.2 - 4 661 ZDHHC11_ENST00000424784.2_Intron|ZDHHC11B_ENST00000382776.4_Intron P0C7U3 ZH11B_HUMAN zinc finger, DHHC-type containing 11B NA NA integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) lung(3)|stomach(1) 4 CCTTGAGAGCGGCGGCCACGT 0.657 NA NA .||| 1570 0.313498 0.587 0.2161 5008 , , NA 7676 0.2927 NA 0.1998 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 5p15.33 2007-01-29 ENSG00000206077 653082 Zinc fingers, DHHC-type 32962 protein-coding gene gene with protein product NA NA Standard XM_926053 XM_003118532 NA Approved P0C7U3 ENST00000508859.2:c.661+12C>T chr5.hg19:g.751235G>A NA A6NHR3 hg19 0.02 18.151001 AGCxGCG COVERED NOVEL ZDHHC11B-001 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000367532.2 1 3.30891 KEEP 24 0 0 11 328 GG 0.992708 0.992708 0 - 48 60 1522 0 0 116.729238 268 50 8167 516 ENST00000508859.2 0.151899 1 ZDHHC11 79844 __UNKNOWN__ __UNKNOWN__ 5 837673 837673 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:837673A>G ENST00000283441.8 - 6 1168 ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) AGCTCAGCAGAGTGGCCAGTG 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023215 CCDS3857.1 5p15.2 2011-02-09 ENSG00000188818 ENSG00000188818 79844 Zinc fingers, DHHC-type 19158 protein-coding gene gene with protein product NA NA Standard NM_024786 NM_024786 NA Approved ZNF399, FLJ13153 uc011cma.1 Q9H8X9 OTTHUMG00000090319 ENST00000283441.8:c.785-78T>C chr5.hg19:g.837673A>G NA Q6UWR9 hg19 CCDS3857.1 0.02 6.378963 CAGxGTG COVERED NOVEL ZDHHC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206681.3 0 3.008906 KEEP 40 0 0 10 305 AA 0.992708 0.992708 0 - 27 27 968 0 0 75.829539 165 60 5886 265 ENST00000283441.8 0.140625 1 ZDHHC11 79844 __UNKNOWN__ __UNKNOWN__ 5 840644 840644 __UNKNOWN__ Missense_Mutation SNP G G C rs200038670 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:840644G>C ENST00000283441.8 - 5 1133 c.750C>G c.(748-750)caC>caG p.H250Q ZDHHC11_ENST00000424784.2_Missense_Mutation_p.H250Q|ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.H37Q NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 250 NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) p.H250Q(2) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GCTGGCCCAGGTGCACCAAGC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) lung(2) 137 146 143 NA NA NA 5 NA NA 840644 2203 4300 6503 SO:0001583 missense AK023215 CCDS3857.1 5p15.2 2011-02-09 ENSG00000188818 ENSG00000188818 79844 Zinc fingers, DHHC-type 19158 protein-coding gene gene with protein product NA NA Standard NM_024786 NM_024786 NA Approved ZNF399, FLJ13153 uc011cma.1 Q9H8X9 OTTHUMG00000090319 ENST00000283441.8:c.750C>G chr5.hg19:g.840644G>C ENSP00000283441:p.His250Gln NA Q6UWR9 hg19 CCDS3857.1 0.02 35.23348 CAGxTGC COVERED . . . . . . . . . . g 5.277 0.236438 0.10023 . . ENSG00000188818 ENST00000424784;ENST00000283441;ENST00000511193;ENST00000511539 T;T;T;T 0.43688 1.86;1.86;0.99;0.94 2.74 -0.394 0.12434 . 642.914000 0.00961 U 0.003101 T 0.25494 0.0620 N 0.03608 -0.345 0.09310 N 1 B;B 0.06786 0.001;0.0 B;B 0.15870 0.014;0.001 T 0.27606 -1.0069 10 0.29301 T 0.29 -6.9343 13.336 0.60518 0.0:0.2548:0.7452:0.0 . 250;37 Q9H8X9;Q6UWR9 ZDH11_HUMAN;. Q 250;250;25;37 ENSP00000397719:H250Q;ENSP00000283441:H250Q;ENSP00000426873:H25Q;ENSP00000427067:H37Q ENSP00000283441:H250Q H - 3 2 ZDHHC11 893644 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.474000 0.06607 -0.110000 0.12022 -2.048000 0.00412 CAC NOVEL ZDHHC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206681.3 4 18.237447 KEEP 6 3 95 94 3063 GG 1 1 0 - 23 49 814 0 0 46.213797 853 60 29309 1118 ENST00000283441.8 0.026256 1 ZDHHC11 79844 __UNKNOWN__ __UNKNOWN__ 5 840785 840785 __UNKNOWN__ Intron SNP C C A rs200106329 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:840785C>A ENST00000283441.8 - 5 1012 ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000511539.1_Intron NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CAAGGGAGAGCCACTGTGTCC 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 A 50,4356 812.5+/-416.1 0,50,2153 149 178 168 NA 0.6 0 5 dbSNP_132 168 4,8596 817.5+/-406.9 0,4,4296 no intron ZDHHC11 NM_024786.2 0,54,6449 AA,AC,CC NA 0.0465,1.1348,0.4152 840785 54,12952 2203 4300 6503 SO:0001627 intron_variant AK023215 CCDS3857.1 5p15.2 2011-02-09 ENSG00000188818 ENSG00000188818 79844 Zinc fingers, DHHC-type 19158 protein-coding gene gene with protein product NA NA Standard NM_024786 NM_024786 NA Approved ZNF399, FLJ13153 uc011cma.1 Q9H8X9 OTTHUMG00000090319 ENST00000283441.8:c.629-20G>T chr5.hg19:g.840785C>A NA Q6UWR9 hg19 CCDS3857.1 0.02 28.310953 GAGxCAC COVERED NOVEL ZDHHC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206681.3 2 14.613476 KEEP 3 2 61 70 2377 CC 1 1 0 - 44 60 1481 0 0 95.801445 733 60 25378 993 ENST00000283441.8 0.056628 1 BRD9 65980 __UNKNOWN__ __UNKNOWN__ 5 878461 878461 __UNKNOWN__ Intron SNP G G A rs76072224 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:878461G>A ENST00000467963.1 - 11 1438 BRD9_ENST00000388890.4_Intron|BRD9_ENST00000435709.2_Intron|BRD9_ENST00000323510.4_Intron|BRD9_ENST00000483173.1_Intron NM_023924.4 NP_076413.3 Q9H8M2 BRD9_HUMAN bromodomain containing 9 NA NA chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CCCCGGGGCCGACACTTGCCT 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 104 87 93 NA NA NA 5 NA NA 878461 2203 4300 6503 SO:0001627 intron_variant AK023503 CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2 5p15.33 2008-02-05 ENSG00000028310 ENSG00000028310 65980 25818 protein-coding gene gene with protein product NA NA 12477932 Standard NM_023924 NM_023924 NA Approved FLJ13441 uc003jbq.3 Q9H8M2 OTTHUMG00000159258 ENST00000467963.1:c.1271+8C>T chr5.hg19:g.878461G>A NA A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9 hg19 CCDS34127.2 0.02 17.869899 GCCxACA COVERED NOVEL BRD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354113.1 1 6.289452 KEEP 32 8 236 104 3379 GG 1 1 0 - 68 59 2254 0 0 174.813272 384 60 12809 798 ENST00000467963.1 0.150442 1 TRIO 7204 __UNKNOWN__ __UNKNOWN__ 5 14401156 14401156 __UNKNOWN__ Missense_Mutation SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:14401156A>T ENST00000344204.4 + 31 4723 c.4699A>T c.(4699-4701)Aat>Tat p.N1567Y TRIO_ENST00000537187.1_Missense_Mutation_p.N1567Y NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1567 PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cytosol (GO:0005829) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AACTTCAGATAATAAAATTGT 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 83 79 80 NA NA NA 5 NA NA 14401156 2203 4300 6503 SO:0001583 missense AF091395 CCDS3883.1 5p14-p15.1 2013-01-11 2012-07-12 ENSG00000038382 ENSG00000038382 7204 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing 12303 protein-coding gene gene with protein product 601893 triple functional domain (PTPRF interacting) NA 8643598 Standard NM_007118 NM_007118 NA Approved ARHGEF23 uc003jff.3 O75962 OTTHUMG00000131057 ENST00000344204.4:c.4699A>T chr5.hg19:g.14401156A>T ENSP00000339299:p.Asn1567Tyr NA D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8 hg19 CCDS3883.1 0.02 9.86283 GATxATA COVERED . . . . . . . . . . A 12.45 1.941616 0.34283 . . ENSG00000038382 ENST00000344204;ENST00000537187;ENST00000513206 T;T 0.31769 1.48;1.48 5.8 5.8 0.92144 Pleckstrin homology-type (1);Pleckstrin homology domain (2); 0.000000 0.85682 D 0.000000 T 0.40398 0.1115 L 0.27944 0.81 0.80722 D 1 D;D 0.89917 0.998;1.0 D;D 0.87578 0.912;0.998 T 0.12837 -1.0532 10 0.10636 T 0.68 . 16.1549 0.81657 1.0:0.0:0.0:0.0 . 1567;1567 O75962-5;O75962 .;TRIO_HUMAN Y 1567;1567;1254 ENSP00000339299:N1567Y;ENSP00000446348:N1567Y ENSP00000339299:N1567Y N + 1 0 TRIO 14454156 1.000000 0.71417 1.000000 0.80357 0.920000 0.55202 9.176000 0.94839 2.209000 0.71365 0.533000 0.62120 AAT NOVEL TRIO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253711.2 4 16.811203 KEEP 0 0 0 56 1628 AA 1 1 0 + 64 60 2220 0 0 185.650917 230 60 7761 448 ENST00000344204.4 0.217687 1 SKP2 6502 __UNKNOWN__ __UNKNOWN__ 5 36183898 36183898 __UNKNOWN__ 3'UTR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:36183898A>G ENST00000274255.6 + 0 3236 SKP2_ENST00000274254.5_Intron NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726) aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005) identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAATTTCTTAATAGTTAAAAA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 46 44 NA NA NA 5 NA NA 36183898 2202 4300 6502 SO:0001624 3_prime_UTR_variant U33761 CCDS3915.1, CCDS3916.1, CCDS58944.1 5p13 2012-02-23 2012-02-23 ENSG00000145604 ENSG00000145604 6502 F-boxes / Leucine-rich repeats 10901 protein-coding gene gene with protein product 601436 S-phase kinase-associated protein 2 (p45) NA 8646875 Standard NM_005983 NM_005983 NA Approved FBXL1, FBL1, p45 uc003jkc.2 Q13309 OTTHUMG00000131106 ENST00000274255.6:c.*1765A>G chr5.hg19:g.36183898A>G NA A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69 hg19 CCDS3916.1 0.02 5.95618 TTAxTAG COVERED NOVEL SKP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253769.2 0 6.311593 KEEP 0 0 0 21 649 AA 0.999869 0.999869 0 + 6 27 210 0 0 12.574329 166 60 5705 217 ENST00000274255.6 0.034884 1 RANBP3L 202151 __UNKNOWN__ __UNKNOWN__ 5 36248741 36248741 __UNKNOWN__ 3'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:36248741C>T ENST00000296604.3 - 0 2898 NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like NA NA intracellular transport (GO:0046907) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) AATTTTTATCCCCTAATCAGA 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC047660 CCDS3918.1, CCDS54843.1 5p13.2 2008-02-05 ENSG00000164188 ENSG00000164188 202151 26353 protein-coding gene gene with protein product NA NA 12477932 Standard NM_145000 NM_145000 NA Approved FLJ25422 uc011cow.2 Q86VV4 OTTHUMG00000131110 ENST00000296604.3:c.*1015G>A chr5.hg19:g.36248741C>T NA B7Z866|E9PGP9|Q96LK2 hg19 CCDS3918.1 0.02 4.362024 ATCxCCT COVERED NOVEL RANBP3L-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253773.2 0 6.136996 KEEP 0 1 30 31 996 CC 0.999997 0.999997 0 - 36 60 1295 0 0 114.251002 88 60 3020 196 ENST00000296604.3 0.290323 1 C9 735 __UNKNOWN__ __UNKNOWN__ 5 39341817 39341817 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:39341817T>C ENST00000263408.4 - 3 279 C9_ENST00000509186.1_Intron NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 NA NA complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) ACAATATCAGTTGGAATGATT 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 71 71 NA NA NA 5 NA NA 39341817 2203 4300 6503 SO:0001627 intron_variant CCDS3929.1 5p14-p12 2014-09-17 ENSG00000113600 ENSG00000113600 735 Complement system 1358 protein-coding gene gene with protein product 120940 NA Standard NM_001737 NA Approved uc003jlv.4 P02748 OTTHUMG00000094767 ENST00000263408.4:c.184-15A>G chr5.hg19:g.39341817T>C NA hg19 CCDS3929.1 0.02 4.699256 CAGxTGG COVERED NOVEL C9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211576.3 0 2.407052 KEEP 0 0 0 8 243 TT 0.99257 0.992544 0 - 24 60 857 0 0 73.226866 76 60 2626 130 ENST00000263408.4 0.24 0.999973 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49438302 49438302 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:49438302C>G NA NA None (None upstream) : EMB (253723 downstream) NA NA NA caaagcgctccaaatatctac 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.49438302C>G NA hg19 0.02 2.012755 CTCxAAA COVERED NOVEL 0 5 6.318202 KEEP 19 0 0 21 689 CC 0.995343 0.994216 0 8 40 240 0 0 18.098633 45 41 1593 131 0.150943 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49438362 49438362 __UNKNOWN__ IGR SNP G G T rs60367844 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:49438362G>T NA NA None (None upstream) : EMB (253663 downstream) NA NA NA ttaaaggaaggttcaactctg 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.49438362G>T NA hg19 0.02 1.815958 AAGxTTC COVERED NOVEL 0 5 6.621231 KEEP 30 0 0 22 758 GG 0.99649 0.996295 0 6 31 207 0 0 14.344984 73 42 2583 168 0.075949 0.999804 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49438450 49438450 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:49438450C>T NA NA None (None upstream) : EMB (253575 downstream) NA NA NA ttactgtttcctatgaaggcc 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.49438450C>T NA hg19 0.02 1.835948 TTCxTAT COVERED NOVEL 0 4 5.417778 KEEP 17 0 0 18 644 CC 0.99649 0.989441 0 5 41 169 0 0 11.891411 53 45 1898 123 0.086207 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49440108 49440108 __UNKNOWN__ IGR SNP T T C rs148883709 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:49440108T>C NA NA None (None upstream) : EMB (251917 downstream) NA NA NA ctaaagaagtttctgagaatg 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.49440108T>C NA hg19 0.02 -0.315816 AGTxTCT UNCOVERED NOVEL 0 4 2.407386 KEEP 10 0 0 8 254 TT 0 0 0 3 38 111 0 0 8.391515 25 50 876 76 0.107143 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49440739 49440739 __UNKNOWN__ IGR SNP G G C rs56093420 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:49440739G>C NA NA None (None upstream) : EMB (251286 downstream) NA NA NA ctactctatggaaaggtatgt 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.49440739G>C NA hg19 0.02 2.024399 ATGxAAA UNCOVERED NOVEL 0 2 3.310733 KEEP 50 0 0 11 379 GT 0 0 0 6 25 206 0 0 15.857396 38 49 1331 179 0.136364 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49440799 49440799 __UNKNOWN__ IGR SNP C C A rs146894240 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:49440799C>A NA NA None (None upstream) : EMB (251226 downstream) NA NA NA gctgagaatgcttcagtctag 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.49440799C>A NA hg19 0.02 3.993992 ATGxTTC UNCOVERED NOVEL 0 1 2.407843 KEEP 55 0 0 8 280 CC 0 0 0 7 60 243 0 0 17.759765 63 50 2290 201 0.1 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49440841 49440841 __UNKNOWN__ IGR SNP C C G rs150402593 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:49440841C>G NA NA None (None upstream) : EMB (251184 downstream) NA NA NA ttttgcaccacagccctcaaa 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.49440841C>G NA hg19 0.02 4.438154 CCAxAGC UNCOVERED NOVEL 0 1 2.708925 KEEP 48 0 0 9 324 CC 0 0 0 10 60 360 0 0 29.193254 48 50 1775 199 0.172414 0.999989 EMB 133418 __UNKNOWN__ __UNKNOWN__ 5 49698144 49698144 __UNKNOWN__ Missense_Mutation SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:49698144T>A ENST00000514111.1 - 7 1043 c.737A>T c.(736-738)aAa>aTa p.K246I EMB_ENST00000303221.5_Missense_Mutation_p.K296I|EMB_ENST00000508934.1_Missense_Mutation_p.K242I Q6PCB8 EMB_HUMAN embigin 296 Ig-like V-type 2. NA cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879) cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202) organic cyclic compound binding (GO:0097159) breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) CTCAAATTCTTTCCCCTCATC 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 56 55 NA NA NA 5 NA NA 49698144 2201 4296 6497 SO:0001583 missense BC059398 CCDS3953.1 5q11.1 2013-01-29 2010-06-24 ENSG00000170571 ENSG00000170571 133418 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 30465 protein-coding gene gene with protein product 615669 embigin homolog (mouse) NA 9438341 Standard NM_198449 NM_198449 NA Approved MGC71745 uc003jom.3 Q6PCB8 OTTHUMG00000131161 ENST00000514111.1:c.737A>T chr5.hg19:g.49698144T>A ENSP00000426404:p.Lys246Ile NA B7Z6S3|B7Z902 hg19 0.02 5.869069 TCTxTCC COVERED . . . . . . . . . . T 9.399 1.077524 0.20227 . . ENSG00000170571 ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111 T;T;T 0.50277 0.75;0.81;0.8 4.48 2.03 0.26663 . 0.519085 0.21024 N 0.081458 T 0.50086 0.1595 L 0.56769 1.78 0.31737 N 0.636318 P;P 0.50710 0.938;0.679 P;B 0.52267 0.694;0.202 T 0.55921 -0.8064 9 . . . -20.5368 7.7879 0.29103 0.0:0.1853:0.0:0.8147 . 242;296 D6RDX7;Q6PCB8 .;EMB_HUMAN I 296;268;242;246 ENSP00000302289:K296I;ENSP00000425215:K242I;ENSP00000426404:K246I . K - 2 0 EMB 49733901 1.000000 0.71417 0.989000 0.46669 0.067000 0.16453 1.066000 0.30604 0.304000 0.22809 -0.624000 0.04008 AAA NOVEL EMB-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367699.1 0 6.618638 KEEP 2 0 0 22 665 TT 0.999879 0.999879 0 - 82 60 2751 0 0 260.320414 98 60 3400 263 ENST00000514111.1 0.455556 1 MOCS2 4338 __UNKNOWN__ __UNKNOWN__ 5 52405479 52405479 __UNKNOWN__ 5'UTR SNP G G C rs370829734 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:52405479G>C ENST00000396954.3 - 0 110 MOCS2_ENST00000527216.1_Intron|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000510818.2_Intron|MOCS2_ENST00000450852.3_Intron NM_004531.3 NP_004522.1 molybdenum cofactor synthesis 2 NA NA endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) GAGGGAAAGGGCGGGAGAGAC 0.726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 25 44 38 NA NA NA 5 NA NA 52405479 691 1589 2280 SO:0001623 5_prime_UTR_variant AF117815 CCDS3958.1, CCDS47205.1 5q11 2008-02-05 ENSG00000164172 ENSG00000164172 4338 7193 protein-coding gene gene with protein product 603708 NA 10053004, 9889283 Standard NM_183418 NM_004531 NA Approved MOCO1 uc003joz.3 O96007 OTTHUMG00000096981 ENST00000396954.3:c.-568C>G chr5.hg19:g.52405479G>C NA hg19 CCDS3958.1 0.02 1.81069 AGGxCGG COVERED NOVEL MOCS2-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000214053.3 1 26.784998 KEEP 0 0 0 89 3056 GG 1 0.999962 0 - 40 60 1363 0 0 126.149412 60 60 2050 258 ENST00000396954.3 0.4 0.999962 ADAMTS6 11174 __UNKNOWN__ __UNKNOWN__ 5 64748564 64748564 __UNKNOWN__ Silent SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:64748564A>T ENST00000536360.1 - 5 1626 c.813T>A c.(811-813)atT>atA p.I271I Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 271 Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}. NA proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TGTAATGTTCAATGTCTTTGC 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 152 138 143 NA NA NA 5 NA NA 64748564 2203 4300 6503 SO:0001819 synonymous_variant AF140674 CCDS3983.2 5q13 2008-07-18 2005-08-19 ENSG00000049192 ENSG00000049192 11174 ADAM metallopeptidases with thrombospondin type 1 motif 222 protein-coding gene gene with protein product a disintegrin and metalloproteinase with thrombospondin motifs 6 605008 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6 NA 10464288 Standard NM_197941 NM_197941 NA Approved ADAM-TS6 uc003jtp.3 Q9UKP5 OTTHUMG00000074079 ENST00000536360.1:c.813T>A chr5.hg19:g.64748564A>T NA Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1 hg19 0.02 11.003533 TTCxATG COVERED NOVEL ADAMTS6-201 KNOWN basic protein_coding NA protein_coding 0 16.246676 KEEP 0 0 0 54 1635 AA 1 1 0 - 86 60 3088 0 0 273.428746 203 60 7144 426 ENST00000536360.1 0.297578 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 69515684 69515684 __UNKNOWN__ IGR SNP G G A rs62371791 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:69515684G>A NA NA SMN2 (142263 upstream) : GTF2H2B (195585 downstream) NA NA NA GCATGGTGGGGGAGGCAAGTG 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.69515684G>A NA hg19 0.02 1.965161 GGGxGAG UNCOVERED NOVEL 0 2 4.213462 KEEP 75 0 0 14 469 GG 0 0 0 12 35 412 0 0 32.9191 59 45 1991 158 0.169014 0.997163 SERF1A 8293 __UNKNOWN__ __UNKNOWN__ 5 70200973 70200973 __UNKNOWN__ Intron SNP C C A rs189447511 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:70200973C>A ENST00000317633.9 + 3 321 SERF1A_ENST00000504458.1_Intron|SERF1A_ENST00000354833.3_Intron|SERF1A_ENST00000513436.2_Intron|SERF1A_ENST00000507348.1_Intron|SERF1A_ENST00000512649.1_Intron NM_022968.1 NP_075257.1 O75920 SERF1_HUMAN small EDRK-rich factor 1A (telomeric) NA NA nervous system development (GO:0007399) NA Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCTTAATTTACGGCAAAGGTC 0.408 NA NA A||| 3493 0.697484 0.447 0.7925 5008 , , NA 3331 0.879 NA 0.6799 False NA ,,, NA NA NA 2504 0.7996 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF073518 CCDS47228.1, CCDS47229.1 5q13 2008-08-14 ENSG00000172058 ENSG00000172058 8293 10755 protein-coding gene gene with protein product SMA modifier 1, spinal muscular atrophy-related gene H4F5 603011 SERF1 NA 9731538 Standard NM_021967 NM_021967 NA Approved H4F5, 4F5, FAM2A, SMAM1 uc003jyb.3 O75920 OTTHUMG00000162419 ENST00000317633.9:c.117-2588C>A chr5.hg19:g.70200973C>A NA B7ZKM2|O75919|Q52LK5 hg19 CCDS47229.1 0.02 3.572299 TTAxGGC COVERED NOVEL SERF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368853.2 27 20.394192 KEEP 2 1 35 80 2603 CC 1 1 0 + 5 33 172 0 0 10.717811 107 60 3795 262 ENST00000317633.9 0.044643 1 PDE8B 8622 __UNKNOWN__ __UNKNOWN__ 5 76607919 76607919 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:76607919C>T ENST00000264917.5 + 2 444 PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000342343.4_Intron NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B NA NA cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160) cytosol (GO:0005829) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) Caffeine(DB00201)|Ketotifen(DB00920) AGATTAttttctttttttttt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 47 50 49 NA NA NA 5 NA NA 76607919 2203 4300 6503 SO:0001627 intron_variant AF079529 CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1 5q14.1 2008-05-15 ENSG00000113231 ENSG00000113231 8622 3.1.4.17 Phosphodiesterases 8794 protein-coding gene gene with protein product 603390 NA 9784418 Standard NM_003719 NM_003719 NA Approved uc003kfa.3 O95263 OTTHUMG00000102170 ENST00000264917.5:c.399+41C>T chr5.hg19:g.76607919C>T NA Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2 hg19 CCDS4037.1 0.02 3.728806 TTTxTTT COVERED NOVEL PDE8B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000220015.3 4 2.642737 KEEP 0 4 58 30 911 CC 0.999998 0.999997 0 + 11 60 204 2 0 10.583534 108 60 3129 187 ENST00000264917.5 0.092437 0.999999 AP3B1 8546 __UNKNOWN__ __UNKNOWN__ 5 77339846 77339846 __UNKNOWN__ Intron SNP G G A rs11746090 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:77339846G>A ENST00000519295.1 - 23 2702 AP3B1_ENST00000255194.6_Intron NM_003664.3 NP_003655.3 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit NA NA anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622) AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020) GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) AACCCCTGAAGGAAAATCTCC 0.448 NA NA Hermansky-Pudlak syndrome G||| 744 0.148562 0.0151 0.1614 5008 , , NA 19236 0.0258 NA 0.2863 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database HPS, HPS1-8 U81504 CCDS4041.1, CCDS64186.1 5q14.1 2014-09-17 ENSG00000132842 ENSG00000132842 8546 566 protein-coding gene gene with protein product 603401 NA 9182526, 9151686 Standard NM_003664 NA Approved ADTB3A, HPS2 uc003kfj.4 O00203 OTTHUMG00000106919 ENST00000519295.1:c.2431-4748C>T chr5.hg19:g.77339846G>A NA E5RJ68|O00580|Q7Z393|Q9HD66 hg19 0.02 2.226119 GAAxGAA COVERED NOVEL AP3B1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000369905.1 1 2.407173 KEEP 0 0 0 8 268 GG 0.99257 0.985548 0 - 34 60 1220 0 0 119.00869 30 60 1070 86 ENST00000519295.1 0.53125 0.992926 DHFR 1719 __UNKNOWN__ __UNKNOWN__ 5 79923508 79923508 __UNKNOWN__ 3'UTR SNP C C G rs368373579 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:79923508C>G ENST00000439211.2 - 0 2455 NM_000791.3 NP_000782.1 P00374 DYR_HUMAN dihydrofolate reductase NA NA folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|nucleoplasm (GO:0005654) dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661) kidney(1)|large_intestine(1) 2 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35) Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157) CTGAAACTCCCTGGGCCCAAA 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS47240.1 5q11.2-q13.2 2012-10-02 ENSG00000228716 ENSG00000228716 1719 1.5.1.3 2861 protein-coding gene gene with protein product 126060 NA Standard NM_000791 XM_005248455 NA Approved uc003kgy.1 P00374 OTTHUMG00000162529 ENST00000439211.2:c.*1398G>C chr5.hg19:g.79923508C>G NA B4DDD2|Q14130|Q6IRW8 hg19 CCDS47240.1 0.02 4.202229 TCCxTGG COVERED NOVEL DHFR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369450.1 4 3.346642 KEEP 3 1 34 23 820 CC 0.999909 0.999903 0 - 5 27 185 0 0 12.035004 106 60 3827 172 ENST00000439211.2 0.045045 0.999994 XRCC4 7518 __UNKNOWN__ __UNKNOWN__ 5 82400776 82400776 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:82400776A>G ENST00000282268.3 + 2 213 c.38A>G c.(37-39)gAa>gGa p.E13G XRCC4_ENST00000396027.4_Missense_Mutation_p.E13G|XRCC4_ENST00000338635.6_Missense_Mutation_p.E13G|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Missense_Mutation_p.E13G NM_003401.3|NM_022406.2|NM_022550.2 NP_003392.1|NP_071801.1|NP_072044.1 Q13426 XRCC4_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 4 13 NA cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032) cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) protein C-terminus binding (GO:0008022) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3) 17 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) CTTGTTTCTGAACCCAGTATA 0.333 NA NA Non-homologous end-joining NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 90 95 93 NA NA NA 5 NA NA 82400776 2203 4298 6501 SO:0001583 missense AB017445 CCDS4058.1, CCDS4059.1 5q14.2 2008-02-05 ENSG00000152422 ENSG00000152422 7518 12831 protein-coding gene gene with protein product X-ray repair, complementing defective, repair in Chinese hamster, DNA repair protein XRCC4 194363 NA 1697445, 7665175 Standard NM_022550 NM_022406 NA Approved uc003kib.3 Q13426 OTTHUMG00000131319 ENST00000282268.3:c.38A>G chr5.hg19:g.82400776A>G ENSP00000282268:p.Glu13Gly NA A8K3X4|Q9BS72|Q9UP94 hg19 CCDS4058.1 0.02 13.477663 CTGxACC COVERED . . . . . . . . . . A 16.02 3.003699 0.54254 . . ENSG00000152422 ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817 T;T;T;T 0.14766 2.48;2.48;2.48;2.48 5.67 5.67 0.87782 DNA double-strand break repair and VJ recombination XRCC4, N-terminal (2); 0.059118 0.64402 D 0.000004 T 0.36166 0.0957 M 0.71581 2.175 0.49687 D 0.999817 D;D;D 0.67145 0.989;0.996;0.995 P;D;P 0.64595 0.826;0.927;0.88 T 0.08743 -1.0707 10 0.72032 D 0.01 -18.1631 16.1924 0.82000 1.0:0.0:0.0:0.0 . 13;13;13 Q13426-2;Q13426;Q13426-3 .;XRCC4_HUMAN;. G 13 ENSP00000282268:E13G;ENSP00000342011:E13G;ENSP00000379344:E13G;ENSP00000421491:E13G ENSP00000282268:E13G E + 2 0 XRCC4 82436532 1.000000 0.71417 1.000000 0.80357 0.221000 0.24807 3.304000 0.51866 2.287000 0.76781 0.482000 0.46254 GAA NOVEL XRCC4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369624.1 2 15.981493 KEEP 0 1 31 64 2012 AA 1 1 0 + 86 60 3042 0 0 266.874225 216 60 7542 470 ENST00000282268.3 0.284768 1 KIAA0825 285600 __UNKNOWN__ __UNKNOWN__ 5 93798167 93798167 __UNKNOWN__ Missense_Mutation SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:93798167A>C ENST00000513200.3 - 11 2243 c.2171T>G c.(2170-2172)tTt>tGt p.F724C KIAA0825_ENST00000312498.7_Missense_Mutation_p.F724C|KIAA0825_ENST00000427991.2_Missense_Mutation_p.F724C NM_001145678.1 NP_001139150.1 Q8IV33 K0825_HUMAN KIAA0825 724 NA breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 GTGAATTTTAAAAATTTTATC 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 77 71 73 NA NA NA 5 NA NA 93798167 692 1587 2279 SO:0001583 missense BX648338 CCDS4070.1 5q15 2011-02-23 2011-02-23 2011-02-23 ENSG00000185261 ENSG00000185261 285600 28532 protein-coding gene gene with protein product NA chromosome 5 open reading frame 36 C5orf36 NA 12477932 Standard NM_173665 NM_173665 NA Approved DKFZp686F0372, MGC34713 uc011cuk.2 Q8IV33 OTTHUMG00000131331 ENST00000513200.3:c.2171T>G chr5.hg19:g.93798167A>C ENSP00000424618:p.Phe724Cys NA O94914|Q6ZNN2 hg19 0.02 -0.324602 TTAxAAA COVERED . . . . . . . . . . A 14.01 2.406370 0.42715 . . ENSG00000185261 ENST00000513200;ENST00000427991;ENST00000312498 T;T;T 0.46063 0.88;0.88;0.88 5.51 5.51 0.81932 . 0.648806 0.14641 N 0.307196 T 0.36248 0.0960 L 0.50333 1.59 0.28331 N 0.921773 B 0.13145 0.007 B 0.14023 0.01 T 0.19745 -1.0296 10 0.36615 T 0.2 . 8.0834 0.30758 0.7328:0.1285:0.0:0.1387 . 724 Q8IV33 K0825_HUMAN C 724 ENSP00000424618:F724C;ENSP00000400288:F724C;ENSP00000312205:F724C ENSP00000312205:F724C F - 2 0 KIAA0825 93823923 1.000000 0.71417 1.000000 0.80357 0.735000 0.41995 3.344000 0.52174 2.216000 0.71823 0.533000 0.62120 TTT NOVEL KIAA0825-001 KNOWN not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000254102.5 0 3.009306 KEEP 0 0 0 10 321 AA 0.992708 0.829622 0 - 27 60 979 0 0 101.403426 10 60 361 56 ENST00000513200.3 0.72973 0.835716 MCC 4163 __UNKNOWN__ __UNKNOWN__ 5 112654388 112654388 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:112654388G>T ENST00000408903.3 - 3 1043 NM_001085377.1 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) receptor activity (GO:0004872) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) agggtggagggtgggaggagg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4111.1, CCDS43351.1 5q21-q22 2013-01-10 ENSG00000171444 ENSG00000171444 4163 EF-hand domain containing 6935 protein-coding gene gene with protein product 159350 NA 1848370 Standard NM_001085377 NM_002387 NA Approved uc003kql.4 P23508 OTTHUMG00000128804 ENST00000408903.3:c.627+21827C>A chr5.hg19:g.112654388G>T NA D3DT05|Q6ZR04 hg19 CCDS43351.1 0.02 -0.140116 AGGxTGG COVERED NOVEL MCC-003 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370839.1 0 3.009553 KEEP 0 0 0 10 336 GG 0.992708 0.259062 0 - 5 60 154 0 0 13.460618 11 60 397 29 ENST00000408903.3 0.3125 0.260965 AP3S1 1176 __UNKNOWN__ __UNKNOWN__ 5 115249078 115249078 __UNKNOWN__ Missense_Mutation SNP C C T rs7733604 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:115249078C>T ENST00000316788.7 + 6 1030 c.473C>T c.(472-474)cCa>cTa p.P158L AP3S1_ENST00000505423.1_3'UTR NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 158 NA P -> L (in dbSNP:rs7733604). anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886) AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133) protein transporter activity (GO:0008565)|transporter activity (GO:0005215) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) GCAGGAGCTCCAGCCCGTGCT 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 58 60 59 NA NA NA 5 NA NA 115249078 2202 4300 6502 SO:0001583 missense D63643 CCDS4123.1 5q22 2010-06-29 ENSG00000177879 ENSG00000177879 1176 2013 protein-coding gene gene with protein product 601507 CLAPS3 NA 8697810, 9118953 Standard NM_001284 NA Approved uc003krl.3 Q92572 OTTHUMG00000128887 ENST00000316788.7:c.473C>T chr5.hg19:g.115249078C>T ENSP00000325369:p.Pro158Leu NA O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2 hg19 CCDS4123.1 0.02 7.952988 CTCxAGC COVERED 494 0.2261904761904762 130 0.26422764227642276 77 0.212707182320442 99 0.17307692307692307 188 0.24802110817941952 C 15.31 2.795436 0.50208 . . ENSG00000177879 ENST00000316788 T 0.46063 0.88 6.05 5.17 0.71159 . 0.161410 0.56097 D 0.000028 T 0.00012 0.0000 M 0.75777 2.31 0.09310 P 0.99999999918701 B;B 0.20671 0.047;0.047 B;B 0.20384 0.029;0.029 T 0.04268 -1.0964 9 0.48119 T 0.1 -15.07 16.3644 0.83308 0.1331:0.8669:0.0:0.0 rs7733604;rs13163962;rs61457466;rs7733604 158;158 B2R4I8;Q92572 .;AP3S1_HUMAN L 158 ENSP00000325369:P158L ENSP00000325369:P158L P + 2 0 AP3S1 115276977 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.728000 0.84847 1.540000 0.49301 0.650000 0.86243 CCA NOVEL AP3S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250847.2 4 9.665164 KEEP 0 1 31 43 1476 CC 1 1 0 + 21 60 733 0 0 52.893028 207 60 7421 331 ENST00000316788.7 0.092105 1 GRAMD3 65983 __UNKNOWN__ __UNKNOWN__ 5 125795082 125795082 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:125795082C>A ENST00000285689.3 + 2 544 GRAMD3_ENST00000542322.1_Intron|GRAMD3_ENST00000515200.1_Intron|GRAMD3_ENST00000513040.1_Intron|GRAMD3_ENST00000544396.1_Intron|RP11-517I3.1_ENST00000512779.1_RNA|GRAMD3_ENST00000514932.1_Intron|GRAMD3_ENST00000543198.1_Intron|RP11-517I3.1_ENST00000515808.1_RNA NM_023927.2 NP_076416.2 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 NA NA cytoplasmic microtubule (GO:0005881) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) actacaggcacatgccaccat 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008590 CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1 5q23.2 2014-02-12 2005-11-03 ENSG00000155324 ENSG00000155324 65983 24911 protein-coding gene gene with protein product HCV NS3 transactivated protein 2 NA NA 12477932 Standard NM_023927 NM_023927 NA Approved NS3TP2, FLJ21313 uc011cwt.2 Q96HH9 OTTHUMG00000128943 ENST00000285689.3:c.84-6036C>A chr5.hg19:g.125795082C>A NA B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753 hg19 CCDS4136.1 0.02 -0.043865 GCAxATG UNCOVERED NOVEL GRAMD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250922.2 2 3.009549 KEEP 0 0 0 10 335 CC 0.992708 0.023898 0 + 4 60 140 0 0 14.82142 1 60 38 20 ENST00000285689.3 0.8 0.024074 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 125830262 125830262 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:125830262A>T NA NA GRAMD3 (199 upstream) : ALDH7A1 (47270 downstream) NA NA NA aggccaaggcaggaggactgc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.125830262A>T NA hg19 0.02 -0.043866 GGCxGGA UNCOVERED NOVEL 0 2 2.407431 KEEP 0 0 0 8 254 AA 0.99257 0.023895 0 2 60 73 0 0 6.792783 3 60 110 17 0.4 0.024074 ALDH7A1 501 __UNKNOWN__ __UNKNOWN__ 5 125911153 125911153 __UNKNOWN__ Silent SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:125911153T>C ENST00000409134.3 - 7 873 c.654A>G c.(652-654)aaA>aaG p.K218K ALDH7A1_ENST00000447989.2_Silent_p.K245K|ALDH7A1_ENST00000553117.1_Silent_p.K218K|ALDH7A1_ENST00000413020.1_5'UTR NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 218 NA cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043) endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) TTGGAGCTCCTTTCCTTAAGA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 57 54 55 NA NA NA 5 NA NA 125911153 2203 4300 6503 SO:0001819 synonymous_variant S74728 CCDS4137.2, CCDS56380.1 5q31 2013-06-03 ENSG00000164904 ENSG00000164904 501 1.2.1.31 Aldehyde dehydrogenases 877 protein-coding gene gene with protein product antiquitin 1, 26g turgor protein homolog, alpha-aminoadipic semialdehyde dehydrogenase, alpha-AASA dehydrogenase, delta1-piperideine-6-carboxylate dehydrogenease, P6c dehydrogenase 107323 ATQ1 NA 9417906 Standard NM_001182 NM_001182 NA Approved EPD, PDE uc003ktx.3 P49419 OTTHUMG00000128942 ENST00000409134.3:c.654A>G chr5.hg19:g.125911153T>C NA B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4 hg19 CCDS4137.2 0.02 -0.394665 TCCxTTC COVERED NOVEL ALDH7A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250921.2 0 2.707903 KEEP 0 0 0 9 276 TT 0.99254 0.919727 0 - 14 60 514 0 0 45.965957 31 60 1102 67 ENST00000409134.3 0.311111 0.92664 SLC12A2 6558 __UNKNOWN__ __UNKNOWN__ 5 127522174 127522174 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:127522174C>T ENST00000262461.2 + 27 3692 SLC12A2_ENST00000343225.4_Intron NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 NA NA ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982) ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511) breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325) TTCTTTTTCTCTTTTTGATAC 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 89 91 90 NA NA NA 5 NA NA 127522174 2203 4300 6503 SO:0001627 intron_variant CCDS4144.1, CCDS58965.1 5q23.3 2014-06-13 2013-07-18 ENSG00000064651 ENSG00000064651 6558 Solute carriers 10911 protein-coding gene gene with protein product bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1, basolateral Na-K-Cl symporter, protein phosphatase 1, regulatory subunit 141 600840 NA 7629105 Standard NM_001046 NM_001256461 NA Approved NKCC1, BSC, BSC2, PPP1R141 uc003kus.3 P55011 OTTHUMG00000128983 ENST00000262461.2:c.3504-14C>T chr5.hg19:g.127522174C>T NA Q8N713|Q8WWH7 hg19 CCDS4144.1 0.02 3.055819 TCTxTTT COVERED NOVEL SLC12A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250972.1 1 3.356782 KEEP 0 1 12 16 405 CC 0.999366 0.999366 0 + 26 60 327 0 0 12.781538 183 60 4705 262 ENST00000262461.2 0.124402 1 ADAMTS19 171019 __UNKNOWN__ __UNKNOWN__ 5 128990072 128990072 __UNKNOWN__ Missense_Mutation SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:128990072T>G ENST00000274487.4 + 14 2377 c.2232T>G c.(2230-2232)gaT>gaG p.D744E CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 744 Cys-rich. NA proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AAGTGATGGATGGAACTTCTT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 95 101 99 NA NA NA 5 NA NA 128990072 2203 4300 6503 SO:0001583 missense AJ311904 CCDS4146.1 5q23.3 2009-04-27 2005-08-19 ENSG00000145808 ENSG00000145808 171019 ADAM metallopeptidases with thrombospondin type 1 motif 17111 protein-coding gene gene with protein product 607513 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 NA 11867212 Standard NM_133638 NM_133638 NA Approved uc003kvb.1 Q8TE59 OTTHUMG00000128990 ENST00000274487.4:c.2232T>G chr5.hg19:g.128990072T>G ENSP00000274487:p.Asp744Glu NA hg19 CCDS4146.1 0.02 11.587091 GGAxGGA COVERED . . . . . . . . . . T 18.64 3.667274 0.67814 . . ENSG00000145808 ENST00000274487 T 0.68479 -0.33 4.32 3.15 0.36227 . 0.000000 0.64402 D 0.000001 D 0.85287 0.5662 H 0.96333 3.805 0.46167 D 0.998904 D 0.89917 1.0 D 0.83275 0.996 D 0.86795 0.1988 9 . . . . 9.3761 0.38283 0.0:0.1555:0.0:0.8445 . 744 Q8TE59 ATS19_HUMAN E 744 ENSP00000274487:D744E . D + 3 2 ADAMTS19 129017971 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 2.219000 0.42899 0.992000 0.38840 0.533000 0.62120 GAT NOVEL ADAMTS19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250979.2 2 10.830947 KEEP 0 0 0 36 1096 TT 0.999999 0.999999 0 + 108 60 3858 0 0 358.862881 160 60 5543 398 ENST00000274487.4 0.402985 1 CTD-2410N18.5 0 __UNKNOWN__ __UNKNOWN__ 5 133509511 133509511 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:133509511A>C ENST00000519718.1 - 2 409 SKP1_ENST00000522855.1_Intron|SKP1_ENST00000517625.1_Intron|SKP1_ENST00000521216.1_Intron|SKP1_ENST00000522552.1_Intron|SKP1_ENST00000353411.6_Intron NA NA NA TTACCTCTTCATACTCTCAAG 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000519718.1:c.199+105T>G chr5.hg19:g.133509511A>C NA hg19 0.02 1.854642 TTCxTAC COVERED NOVEL CTD-2410N18.5-001 PUTATIVE mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000473265.1 0 7.521784 KEEP 0 0 0 25 753 AA 0.999931 0.99985 0 - 26 60 944 0 0 82.597972 69 60 2367 145 ENST00000519718.1 0.273684 0.999919 UBE2B 7320 __UNKNOWN__ __UNKNOWN__ 5 133707229 133707229 __UNKNOWN__ 5'UTR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:133707229T>G ENST00000265339.2 + 0 360 UBE2B_ENST00000511807.1_3'UTR NM_003337.2 NP_003328.1 P63146 UBE2B_HUMAN ubiquitin-conjugating enzyme E2B NA NA canonical Wnt signaling pathway (GO:0060070)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to insulin stimulus (GO:0032869)|chiasma assembly (GO:0051026)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|histone lysine demethylation (GO:0070076)|in utero embryonic development (GO:0001701)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of histone phosphorylation (GO:0033128)|positive regulation of reciprocal meiotic recombination (GO:0010845)|postreplication repair (GO:0006301)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|sperm axoneme assembly (GO:0007288)|spermatogenesis (GO:0007283)|synaptonemal complex organization (GO:0070193)|ubiquitin-dependent protein catabolic process (GO:0006511) chromatin (GO:0000785)|cytoplasm (GO:0005737)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|replication fork (GO:0005657)|XY body (GO:0001741) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842) kidney(1)|large_intestine(2)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) cgccggggggtgggggggctg 0.697 NA NA Rad6 pathway NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 2 3 3 NA NA NA 5 NA NA 133707229 536 1329 1865 SO:0001623 5_prime_UTR_variant M74525 CCDS4174.1 5q31.1 2011-05-19 2011-05-19 ENSG00000119048 ENSG00000119048 7320 Ubiquitin-conjugating enzymes E2 12473 protein-coding gene gene with protein product 179095 ubiquitin-conjugating enzyme E2B (RAD6 homolog) NA 1559696 Standard NM_003337 NM_003337 NA Approved UBC2, HHR6B, RAD6B uc003kzh.3 P63146 OTTHUMG00000129120 ENST00000265339.2:c.-58T>G chr5.hg19:g.133707229T>G NA B2R503|D3DQA2|P23567|Q4PJ15|Q9D0J6 hg19 CCDS4174.1 0.02 2.364231 GGGxGGG COVERED NOVEL UBE2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251166.2 0 11.813245 KEEP 0 16 187 109 2487 TT 1 1 0 + 19 60 221 0 0 9.018358 112 70 2745 324 ENST00000265339.2 0.145038 1 CTC-349C3.1 0 __UNKNOWN__ __UNKNOWN__ 5 134642397 134642397 __UNKNOWN__ Intron SNP G G A rs375263793 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:134642397G>A ENST00000432382.3 + 4 461 NM_001277348.1 NP_001264277.1 NA NA NA ccgtccgtccgtccgtccatc 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000432382.3:c.-361-27051G>A chr5.hg19:g.134642397G>A NA hg19 CCDS59494.1 0.02 -0.28046 TCCxTCC COVERED NOVEL CTC-349C3.1-005 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000371690.3 1 3.91234 KEEP 0 0 0 13 438 GG 0.994391 0.735522 0 + 6 60 191 0 2 15.652667 22 60 751 69 ENST00000432382.3 0.214286 0.739671 NRG2 9542 __UNKNOWN__ __UNKNOWN__ 5 139266947 139266947 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:139266947G>A ENST00000358522.3 - 2 849 c.850C>T c.(850-852)Cgc>Tgc p.R284C NRG2_ENST00000394770.1_Missense_Mutation_p.R284C|NRG2_ENST00000289409.4_Missense_Mutation_p.R284C|NRG2_ENST00000340391.3_Missense_Mutation_p.R81C|NRG2_ENST00000545385.1_Missense_Mutation_p.R284C|NRG2_ENST00000289422.7_Missense_Mutation_p.R284C|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000541337.1_Missense_Mutation_p.R284C|NRG2_ENST00000361474.1_Missense_Mutation_p.R284C NM_013983.2 NP_053586.1 O14511 NRG2_HUMAN neuregulin 2 284 Ig-like C2-type. NA embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor binding (GO:0005102) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATTTGATGCGAATGTCTCGG 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 174 147 156 NA NA NA 5 NA NA 139266947 2203 4300 6503 SO:0001583 missense CCDS4217.1, CCDS54910.1 5q23-q33 2013-01-11 ENSG00000158458 ENSG00000158458 9542 Immunoglobulin superfamily / I-set domain containing 7998 protein-coding gene gene with protein product neural- and thymus-derived activator for ErbB kinases, divergent of neuregulin-1 603818 NA 9168114, 9168115 Standard NM_013982 NM_004883 NA Approved Don-1, NTAK, HRG2 uc003lev.2 O14511 OTTHUMG00000129241 ENST00000358522.3:c.850C>T chr5.hg19:g.139266947G>A ENSP00000351323:p.Arg284Cys NA hg19 CCDS4217.1 0.02 12.863889 TGCxAAT COVERED . . . . . . . . . . G 21.0 4.076086 0.76415 . . ENSG00000158458 ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238 T;T;T;T;T;T;T;T;T 0.68903 -0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36 5.64 5.64 0.86602 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.094893 0.42420 D 0.000703 T 0.80237 0.4586 M 0.74647 2.275 0.58432 D 0.999998 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.79784 0.993;0.99;0.99;0.982 T 0.81963 -0.0692 10 0.87932 D 0 -17.8827 12.2129 0.54389 0.0:0.0:0.8299:0.1701 . 284;284;284;284 O14511-2;O14511;O14511-4;O14511-3 .;NRG2_HUMAN;.;. C 284;284;284;284;284;284;81;284;284;192;284 ENSP00000444235:R284C;ENSP00000289422:R284C;ENSP00000354910:R284C;ENSP00000438753:R284C;ENSP00000378251:R284C;ENSP00000342660:R81C;ENSP00000289409:R284C;ENSP00000351323:R284C;ENSP00000367483:R284C ENSP00000289409:R284C R - 1 0 NRG2 139247131 1.000000 0.71417 0.989000 0.46669 0.989000 0.77384 2.889000 0.48601 2.654000 0.90174 0.563000 0.77884 CGC NOVEL NRG2-007 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000373995.1 1 17.748049 KEEP 0 0 0 59 1782 GG 1 1 0 - 84 60 2909 0 0 253.211355 220 60 6866 410 ENST00000358522.3 0.276316 1 CD14 929 __UNKNOWN__ __UNKNOWN__ 5 140013031 140013031 __UNKNOWN__ 5'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:140013031C>G ENST00000302014.6 - 0 255 CD14_ENST00000401743.2_Intron NM_000591.3 NP_000582.1 P08571 CD14_HUMAN CD14 molecule NA NA apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019) endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTAAGCCTTCTCTGGTGGGT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS4232.1 5q31.3 2012-09-20 2006-03-28 ENSG00000170458 ENSG00000170458 929 CD molecules 1628 protein-coding gene gene with protein product 158120 CD14 antigen NA 2472171, 2462937 Standard NM_000591 NM_000591 NA Approved uc003lgi.2 P08571 OTTHUMG00000129507 ENST00000302014.6:c.-375G>C chr5.hg19:g.140013031C>G NA Q53XT5|Q96FR6|Q96L99|Q9UNS3 hg19 CCDS4232.1 0.02 18.679724 CTTxTCT COVERED NOVEL CD14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251681.2 3 26.783558 KEEP 0 0 0 89 3017 CC 1 1 0 - 119 60 4238 0 0 372.871086 294 60 10538 583 ENST00000302014.6 0.288136 1 PCDHA6 56142 __UNKNOWN__ __UNKNOWN__ 5 140207965 140207965 __UNKNOWN__ Missense_Mutation SNP G G C rs150162226 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:140207965G>C ENST00000529310.1 + 1 403 c.289G>C c.(289-291)Ggg>Cgg p.G97R PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G97R|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 97 Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGTGCGGGCGGAGCGC 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 111 127 121 NA NA NA 5 NA NA 140207965 2203 4291 6494 SO:0001583 missense AF152484 CCDS47281.1, CCDS47282.1 5q31 2010-11-26 ENSG00000081842 ENSG00000081842 56142 Cadherins / Protocadherins : Clustered 8672 other complex locus constituent KIAA0345-like 8 606312 CNRS2 NA 10380929, 10662547 Standard NM_018909 NM_018909 NA Approved CNR2, CRNR2, PCDH-ALPHA6 Q9UN73 OTTHUMG00000163353 ENST00000529310.1:c.289G>C chr5.hg19:g.140207965G>C ENSP00000433378:p.Gly97Arg NA O75283|Q9NRT8 hg19 CCDS47281.1 0.02 5.711008 TGCxGGC COVERED . . . . . . . . . . G 9.482 1.098477 0.20552 . . ENSG00000081842 ENST00000529310;ENST00000527624 T;T 0.30981 1.51;1.51 3.87 3.87 0.44632 Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1); 0.213176 0.22539 U 0.058753 T 0.37945 0.1022 M 0.70595 2.14 0.26008 N 0.98203 D;P;P 0.56287 0.975;0.915;0.791 P;P;P 0.46389 0.515;0.49;0.51 T 0.34625 -0.9821 10 0.51188 T 0.08 . 12.2854 0.54789 0.0:0.1713:0.8287:0.0 . 97;97;97 Q9UN73-3;Q9UN73;Q9UN73-2 .;PCDA6_HUMAN;. R 97 ENSP00000433378:G97R;ENSP00000434113:G97R ENSP00000434113:G97R G + 1 0 PCDHA6 140188149 0.984000 0.35163 1.000000 0.80357 0.243000 0.25628 5.505000 0.66981 2.139000 0.66308 0.313000 0.20887 GGG NOVEL PCDHA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372829.3 4 5.715128 KEEP 5 0 0 19 592 GG 0.99986 0.99986 0 + 6 31 204 0 0 12.064888 160 60 5112 218 ENST00000529310.1 0.036145 1 PCDHB4 56131 __UNKNOWN__ __UNKNOWN__ 5 140502127 140502127 __UNKNOWN__ Missense_Mutation SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:140502127A>T ENST00000194152.1 + 1 547 c.547A>T c.(547-549)Aat>Tat p.N183Y NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 183 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTCACTCGAAATCATAGTGA 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 65 65 65 NA NA NA 5 NA NA 140502127 2203 4300 6503 SO:0001583 missense AF152497 CCDS4246.1 5q31 2010-01-26 ENSG00000081818 ENSG00000081818 56131 Cadherins / Protocadherins : Clustered 8689 other protocadherin 606330 NA 10380929 Standard NM_018938 NM_018938 NA Approved PCDH-BETA4 uc003lip.1 Q9Y5E5 OTTHUMG00000129617 ENST00000194152.1:c.547A>T chr5.hg19:g.140502127A>T ENSP00000194152:p.Asn183Tyr NA Q4V761 hg19 CCDS4246.1 0.02 14.076041 CGAxATC COVERED . . . . . . . . . . A 10.04 1.240505 0.22711 . . ENSG00000081818 ENST00000194152 T 0.53857 0.6 4.56 0.954 0.19595 Cadherin (4);Cadherin-like (1); . . . . T 0.54935 0.1889 L 0.45352 1.415 0.09310 N 1 P 0.41947 0.766 P 0.52710 0.707 T 0.48592 -0.9022 9 0.87932 D 0 . 8.3179 0.32111 0.684:0.0:0.316:0.0 . 183 Q9Y5E5 PCDB4_HUMAN Y 183 ENSP00000194152:N183Y ENSP00000194152:N183Y N + 1 0 PCDHB4 140482311 0.000000 0.05858 0.940000 0.37924 0.850000 0.48378 0.943000 0.29030 0.356000 0.24157 -0.256000 0.11100 AAT NOVEL PCDHB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251812.2 0 6.91186 KEEP 0 0 0 23 649 AA 0.999892 0.999892 0 + 101 60 3442 0 0 296.713786 280 60 9648 451 ENST00000194152.1 0.265092 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 141232880 141232880 __UNKNOWN__ IGR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:141232880A>C NA NA ARAP3 (171092 upstream) : PCDH1 (57 downstream) NA NA NA GTCCCCCCCCAGAGGGGTCCC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.141232880A>C NA hg19 0.02 0.773037 CCCxGAG COVERED NOVEL 0 1 3.309836 KEEP 0 0 0 11 338 AA 0.993072 0.957097 0 10 60 136 0 0 7.640201 41 60 1150 104 0.196078 0.963774 FAT2 2196 __UNKNOWN__ __UNKNOWN__ 5 150891984 150891984 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:150891984G>T ENST00000261800.5 - 20 11659 c.11647C>A c.(11647-11649)Cgt>Agt p.R3883S CTC-251D13.1_ENST00000606930.1_RNA NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3883 Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156) cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCAGACCACGGCAGTTCTCT 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 110 101 104 NA NA NA 5 NA NA 150891984 2203 4300 6503 SO:0001583 missense AF231022 CCDS4317.1 5q33.1 2014-07-21 2013-05-31 ENSG00000086570 ENSG00000086570 2196 Cadherins / Cadherin-related 3596 protein-coding gene gene with protein product cadherin-related family member 9 604269 FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila) NA 9693030 Standard NM_001447 NM_001447 NA Approved MEGF1, CDHF8, HFAT2, CDHR9 uc003lue.4 Q9NYQ8 OTTHUMG00000130126 ENST00000261800.5:c.11647C>A chr5.hg19:g.150891984G>T ENSP00000261800:p.Arg3883Ser NA O75091|Q9NSR7 hg19 CCDS4317.1 0.02 13.545698 CACxGCA COVERED . . . . . . . . . . G 4.861 0.159999 0.09287 . . ENSG00000086570 ENST00000261800 T 0.76060 -0.99 4.92 -1.77 0.07982 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 1.085380 0.07103 N 0.840785 T 0.50548 0.1622 N 0.17082 0.46 0.09310 N 1 B 0.13145 0.007 B 0.19391 0.025 T 0.29366 -1.0014 9 . . . . 0.0118 0.00001 0.3081:0.1931:0.2063:0.2925 . 3883 Q9NYQ8 FAT2_HUMAN S 3883 ENSP00000261800:R3883S . R - 1 0 FAT2 150872177 0.000000 0.05858 0.072000 0.20136 0.049000 0.14656 -0.496000 0.06436 -0.041000 0.13558 -0.291000 0.09656 CGT NOVEL FAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252434.1 1 10.86671 KEEP 0 1 25 45 1466 GG 1 1 0 - 129 60 4565 0 0 425.014306 188 60 6230 435 ENST00000261800.5 0.40694 1 FGF18 8817 __UNKNOWN__ __UNKNOWN__ 5 170863288 170863288 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:170863288A>T ENST00000274625.5 + 3 794 NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 NA NA anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730) growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111) endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTATGTGCCAACCCTCTCCTC 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 81 71 74 NA NA NA 5 NA NA 170863288 2203 4300 6503 SO:0001627 intron_variant AB007422 CCDS4378.1 5q34 2008-02-05 ENSG00000156427 ENSG00000156427 8817 3674 protein-coding gene gene with protein product 603726 NA 9660775, 9742123 Standard NM_033649, NM_003862 NM_003862 NA Approved FGF-18, ZFGF5 uc003mbk.3 O76093 OTTHUMG00000130464 ENST00000274625.5:c.250+11A>T chr5.hg19:g.170863288A>T NA D3DQL7|Q6UWF1 hg19 CCDS4378.1 0.02 14.313158 CCAxCCC COVERED NOVEL FGF18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252857.2 2 17.436933 KEEP 0 0 0 58 1673 AA 1 1 0 + 88 60 2945 0 0 250.411066 265 60 8727 492 ENST00000274625.5 0.249292 1 RP11-1101H11.1 0 __UNKNOWN__ __UNKNOWN__ 5 177135760 177135760 __UNKNOWN__ RNA SNP G G A rs75749756 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:177135760G>A ENST00000509363.1 + 0 258 NA NA NA TGGTATCCCAGTTGTAAGAGG 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000509363.1: chr5.hg19:g.177135760G>A NA hg19 0.02 3.882732 CCAxTTG COVERED NOVEL RP11-1101H11.1-001 KNOWN basic antisense NA antisense OTTHUMT00000373224.1 3 2.963328 KEEP 2 0 0 10 305 GG 0.992708 0.992681 0 + 12 44 396 0 0 29.34861 89 60 3145 119 ENST00000509363.1 0.118812 0.999973 CTC-338M12.9 0 __UNKNOWN__ __UNKNOWN__ 5 180710336 180710336 __UNKNOWN__ lincRNA SNP G G A rs201467249 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr5:180710336G>A ENST00000412295.2 + 0 238 NA NA NA TCTGCATCctgttgtaggttt 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412295.2: chr5.hg19:g.180710336G>A NA hg19 0.02 -0.429585 CCTxTTG COVERED NOVEL CTC-338M12.9-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000372940.1 0 2.407871 KEEP 1 0 0 8 281 GG 0.99257 0.9474 0 + 12 40 394 0 0 33.408056 36 60 1293 66 ENST00000412295.2 0.25 0.954491 IRF4 3662 __UNKNOWN__ __UNKNOWN__ 6 397027 397027 __UNKNOWN__ Intron SNP C C T rs4959828 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:397027C>T ENST00000380956.4 + 5 618 IRF4_ENST00000495137.1_Intron NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337) cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634) protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CCAGTGCTTCCTATCTCAGCC 0.542 NA NA T IGH@ MM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 6 6p25-p23 3662 interferon regulatory factor 4 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U52682 CCDS4469.1 6p25-p23 2008-08-29 ENSG00000137265 ENSG00000137265 3662 6119 protein-coding gene gene with protein product 601900 MUM1 NA 8921401, 18417578 Standard NM_002460 NA Approved LSIRF uc003msz.4 Q15306 OTTHUMG00000016294 ENST00000380956.4:c.493-81C>T chr6.hg19:g.397027C>T NA Q5VUI7|Q99660 hg19 CCDS4469.1 0.02 12.825444 TTCxTAT COVERED NOVEL IRF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043638.1 4 8.714427 KEEP 6 0 0 29 930 CC 0.999997 0.999997 0 + 31 60 1082 0 0 78.373804 300 60 10239 391 ENST00000380956.4 0.093656 1 GCNT6 644378 __UNKNOWN__ __UNKNOWN__ 6 10634156 10634156 __UNKNOWN__ Missense_Mutation SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:10634156T>G ENST00000417671.1 + 1 164 c.164T>G c.(163-165)cTa>cGa p.L55R Q5T4J0 GCNT6_HUMAN glucosaminyl (N-acetyl) transferase 6 55 NA protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) acetylglucosaminyltransferase activity (GO:0008375) breast(1) 1 GACGCAGCCCTAAATGGGAAG 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 6p24.2 2013-02-25 ENSG00000205318 ENSG00000205318 644378 Glucosaminyl (N-acetyl) transferase and xylosyltransferase family 21623 protein-coding gene gene with protein product NA NA Standard NA Approved bA421M1.3 Q5T4J0 OTTHUMG00000014243 ENST00000417671.1:c.164T>G chr6.hg19:g.10634156T>G ENSP00000398277:p.Leu55Arg NA hg19 0.02 24.311527 CCCxAAA COVERED . . . . . . . . . . t 12.27 1.887155 0.33348 . . ENSG00000205318 ENST00000417671 T 0.12147 2.71 2.67 0.228 0.15364 . . . . . T 0.05456 0.0144 L 0.47190 1.495 0.09310 N 1 . . . . . . T 0.38178 -0.9673 7 0.45353 T 0.12 . 5.0702 0.14602 0.0:0.1083:0.1838:0.7079 . . . . R 55 ENSP00000398277:L55R ENSP00000398277:L55R L + 2 0 GCNT6 10742142 0.004000 0.15560 0.000000 0.03702 0.004000 0.04260 1.560000 0.36331 0.041000 0.15688 -0.256000 0.11100 CTA NOVEL GCNT6-201 KNOWN basic|appris_principal protein_coding NA protein_coding 3 8.422569 KEEP 0 0 0 28 833 TT 0.999997 0.999997 0 + 134 60 4500 0 0 375.678517 465 60 16250 737 ENST00000417671.1 0.223706 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 13562947 13562947 __UNKNOWN__ IGR SNP A A G rs13202398 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:13562947A>G NA NA RN7SKP204 (14702 upstream) : SIRT5 (11878 downstream) NA NA NA catgaggtcaagagatcaaga 0.493 NA NA A||| 1086 0.216853 0.0628 0.2219 5008 , , NA 18057 0.256 NA 0.3171 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.13562947A>G NA hg19 0.02 -0.078959 TCAxGAG UNCOVERED NOVEL 0 6 2.708187 KEEP 1 0 0 9 284 AA 0.99257 0.076761 0 3 60 109 0 0 9.843433 6 60 221 24 0.333333 0.077336 KIF13A 63971 __UNKNOWN__ __UNKNOWN__ 6 17794633 17794633 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:17794633A>T ENST00000259711.6 - 25 3181 KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378816.5_Intron NM_022113.5 NP_071396.4 Q9H1H9 KI13A_HUMAN kinesin family member 13A NA NA ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383) centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GACCCTGAAGAGGGTGGGGAG 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 87 81 83 NA NA NA 6 NA NA 17794633 1881 4116 5997 SO:0001627 intron_variant AJ291578 CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1 6p23 2008-10-21 ENSG00000137177 ENSG00000137177 63971 Kinesins 14566 protein-coding gene gene with protein product 605433 NA 11106728 Standard NM_022113 NA Approved bA500C11.2 uc003ncg.4 Q9H1H9 OTTHUMG00000014313 ENST00000259711.6:c.3076-7T>A chr6.hg19:g.17794633A>T NA A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8 hg19 CCDS47381.1 0.02 3.784031 AAGxGGG COVERED NOVEL KIF13A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039954.4 0 4.211687 KEEP 0 0 0 14 429 AA 0.995343 0.995343 0 - 38 60 1291 0 0 112.251762 98 60 3475 181 ENST00000259711.6 0.279412 1 KIAA0319 9856 __UNKNOWN__ __UNKNOWN__ 6 24546515 24546515 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:24546515C>A ENST00000378214.3 - 0 4621 KIAA0319_ENST00000535378.1_3'UTR|KIAA0319_ENST00000537886.1_3'UTR|KIAA0319_ENST00000430948.2_3'UTR NM_001168375.1|NM_014809.3 NP_001161847.1|NP_055624.2 Q5VV43 K0319_HUMAN KIAA0319 NA NA negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764) early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TTATCCCTATCTATGGCAGTC 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002317 CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1 6p22.3 2013-12-13 ENSG00000137261 ENSG00000137261 9856 21580 protein-coding gene gene with protein product neuronal migration 609269 NA 9205841, 15514892 Standard NM_014809 NM_014809 NA Approved NMIG uc003neh.1 Q5VV43 OTTHUMG00000014358 ENST00000378214.3:c.*878G>T chr6.hg19:g.24546515C>A NA A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7 hg19 CCDS34348.1 0.02 8.343066 TATxTAT COVERED NOVEL KIAA0319-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040009.1 3 3.009453 KEEP 0 0 0 10 331 CC 0.992708 0.992708 0 - 57 60 1953 0 0 166.694079 172 60 6276 275 ENST00000378214.3 0.248908 1 LRRC16A 55604 __UNKNOWN__ __UNKNOWN__ 6 25551095 25551095 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:25551095T>G ENST00000329474.6 + 27 2696 NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A NA NA actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634) protein complex binding (GO:0032403) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GCACCTCGGGTGCAGTGTCAT 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 56 55 55 NA NA NA 6 NA NA 25551095 2015 4174 6189 SO:0001627 intron_variant AK000055 CCDS54973.1 6p22.1 2010-09-10 2008-02-12 2008-02-12 ENSG00000079691 ENSG00000079691 55604 21581 protein-coding gene gene with protein product capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium) 609593 leucine rich repeat containing 16 LRRC16 NA 19846667 Standard NM_017640 NM_017640 NA Approved dJ501N12.1, FLJ20048, CARMIL, CARMIL1 uc011djw.2 Q5VZK9 OTTHUMG00000014393 ENST00000329474.6:c.2329-43T>G chr6.hg19:g.25551095T>G NA B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7 hg19 CCDS54973.1 0.02 2.02627 GGGxGCA COVERED NOVEL LRRC16A-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000040045.2 1 3.60899 KEEP 0 0 0 12 345 TT 0.993634 0.993633 0 + 19 60 237 0 0 10.180865 116 60 3139 278 ENST00000329474.6 0.140741 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 27200799 27200799 __UNKNOWN__ IGR SNP G G T rs62401086 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:27200799G>T NA NA MIR3143 (85332 upstream) : PRSS16 (14680 downstream) NA NA NA atcgagaccagcctggctaac 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.27200799G>T NA hg19 0.02 -0.035091 CCAxCCT UNCOVERED NOVEL 0 7 3.310885 KEEP 10 0 0 11 397 GG 0 0 0 4 50 136 0 0 15.507747 0 0 0 22 1 0.019982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 27799475 27799475 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:27799475A>G NA NA HIST1H4K (170 upstream) : HIST1H2AK (6182 downstream) NA NA NA GGGGGAAAAAAAAAGCGAGCT 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.27799475A>G NA hg19 0.02 1.947595 AAAxAAA COVERED NOVEL 0 2 3.910334 KEEP 0 0 0 13 368 AA 0.994391 0.9923 0 17 60 605 0 0 51.522309 55 60 1874 89 0.236111 0.997898 TRIM27 5987 __UNKNOWN__ __UNKNOWN__ 6 28889931 28889931 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:28889931C>A ENST00000377199.3 - 2 777 TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 NA NA Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CAGGGGCAAACAAGCCACTCC 0.512 NA NA T RET papillary thyroid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 6 6p22 5987 tripartite motif-containing 27 E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z58939 CCDS4654.1 6p22 2013-01-09 2011-01-25 2006-09-26 ENSG00000204713 ENSG00000204713 5987 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 9975 protein-coding gene gene with protein product 602165 ret finger protein, tripartite motif-containing 27 RFP NA 8114113 Standard NM_030950 NM_006510 NA Approved RNF76 uc003nlr.3 P14373 OTTHUMG00000031215 ENST00000377199.3:c.421-167G>T chr6.hg19:g.28889931C>A NA A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3 hg19 CCDS4654.1 0.02 1.367021 AAAxAAG COVERED NOVEL TRIM27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076442.2 0 2.704228 KEEP 0 0 0 9 251 CC 0.99254 0.992031 0 - 10 60 163 0 0 8.098684 73 60 1882 111 ENST00000377199.3 0.120482 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29603769 29603769 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:29603769T>G NA NA GABBR1 (2807 upstream) : MOG (20988 downstream) NA NA NA AATTGCAGTTTTCTAATTGAG 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.29603769T>G NA hg19 0.02 2.152607 GTTxTCT COVERED NOVEL 0 1 2.407409 KEEP 0 0 0 8 255 TT 0.99257 0.98219 0 11 55 403 0 0 33.048128 50 60 1771 82 0.180328 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29856874 29856874 __UNKNOWN__ IGR SNP C C T rs374742814 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:29856874C>T NA NA HLA-G (57972 upstream) : HLA-A (52162 downstream) NA NA NA TTCTGAGTCCCTCAGCCTCCA 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.29856874C>T NA hg19 0.02 4.193386 TCCxTCA COVERED NOVEL 0 4 3.94691 KEEP 0 1 28 23 807 CC 0.999909 0.999904 0 13 60 462 0 0 35.38806 91 60 3241 165 0.125 0.999995 HLA-A 3105 __UNKNOWN__ __UNKNOWN__ 6 29911970 29911970 __UNKNOWN__ Missense_Mutation SNP G G A rs9260180 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:29911970G>A ENST00000396634.1 + 6 1032 c.691G>A c.(691-693)Ggc>Agc p.G231S HLA-A_ENST00000376809.5_Missense_Mutation_p.G231S|HLA-A_ENST00000376806.5_Missense_Mutation_p.G231S|HLA-A_ENST00000376802.2_Missense_Mutation_p.G231S P16189 1A31_HUMAN major histocompatibility complex, class I, A 231 Alpha-3.|Ig-like C1-type. NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CTGGGCCCTGGGCTTCTACCC 0.622 NA NA Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 78 72 NA NA NA 6 NA NA 29911970 1507 2706 4213 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial D32129 CCDS34373.1 6p21.3 2013-01-11 ENSG00000206503 ENSG00000206503 3105 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4931 protein-coding gene gene with protein product 142800 NA 8838351 Standard NM_002116 NM_001242758 NA Approved uc003nol.3 P01891 OTTHUMG00000130501 ENST00000396634.1:c.691G>A chr6.hg19:g.29911970G>A ENSP00000379873:p.Gly231Ser NA O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7 hg19 CCDS34373.1 0.02 6.06361 CTGxGCT COVERED . . . . . . . . . . . 12.09 1.834798 0.32421 . . ENSG00000206503 ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802 T;T;T;T 0.19250 2.16;2.16;2.16;2.16 3.69 2.82 0.32997 Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4); 0.000000 0.42294 U 0.000727 T 0.06462 0.0166 . . . 0.38948 P 0.04170700000000005 P;B;B;B;B;B;B 0.43750 0.816;0.0;0.003;0.002;0.01;0.0;0.0 B;B;B;B;B;B;B 0.43867 0.434;0.01;0.034;0.027;0.034;0.02;0.01 T 0.22277 -1.0221 8 0.18276 T 0.48 . 7.4407 0.27181 0.1227:0.0:0.8773:0.0 rs9260180;rs41539915 110;231;231;231;231;231;231 B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439 .;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN S 231;231;19;231;231 ENSP00000379873:G231S;ENSP00000366002:G231S;ENSP00000366005:G231S;ENSP00000365998:G231S ENSP00000365998:G231S G + 1 0 HLA-A 30019949 0.981000 0.34729 1.000000 0.80357 0.983000 0.72400 1.653000 0.37323 0.913000 0.36797 -0.330000 0.08379 GGC NOVEL HLA-A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252909.1 1 15.040234 KEEP 28 0 0 50 1661 GG 1 1 0 + 10 40 351 0 0 22.918759 178 55 6216 311 ENST00000396634.1 0.053191 1 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29977342 29977342 __UNKNOWN__ RNA SNP A A T rs113017032 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA TGGGACTGAGAGGCAAGATTT 0.438 NA NA A||| 16 0.00319489 0.003 0.0029 5008 , , NA 21762 0 NA 0.003 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29977342A>T NA hg19 0.02 28.782211 GAGxGGC COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 50 2.365409 KEEP 1 5 139 57 1763 AA 1 1 0 - 23 60 798 0 0 47.495526 637 60 22205 940 ENST00000376797.3 0.034848 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31192336 31192336 __UNKNOWN__ IGR SNP G G A rs79925243 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:31192336G>A NA NA HCG27 (20591 upstream) : HLA-C (44189 downstream) NA NA NA AGCATCAAAGGCCAGGGGGCA 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.31192336G>A NA hg19 0.02 1.699274 AAGxCCA COVERED NOVEL 0 2 2.407366 KEEP 0 0 0 8 259 GG 0.99257 0.992407 0 5 21 159 0 0 9.942089 85 60 2889 99 0.055556 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31331738 31331738 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:31331738G>C NA NA HLA-B (6774 upstream) : RNU6-283P (6172 downstream) NA NA NA gtagttaccagatttaggggc 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.31331738G>C NA hg19 0.02 18.833455 CCAxATT COVERED NOVEL 0 0 11.135943 KEEP 0 0 0 37 1290 GG 1 1 0 89 60 3294 0 0 294.853541 197 60 7234 559 0.311189 1 MICA 100507436 __UNKNOWN__ __UNKNOWN__ 6 31380340 31380340 __UNKNOWN__ Intron SNP C C T rs386699192|rs2844514 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:31380340C>T ENST00000449934.2 + 5 1082 HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 MHC class I polypeptide-related sequence A NA NA breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) ACAAGGCTTCCATAACAGGGG 0.542 NA NA t||| 2920 0.583067 0.7511 0.6196 5008 , , NA 17453 0.4226 NA 0.5089 False NA ,,, NA NA NA 2504 0.5716 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L14848 CCDS56412.1, CCDS75421.1 6p21.3 2013-01-11 ENSG00000204520 ENSG00000204520 100507436 Immunoglobulin superfamily / C1-set domain containing 7090 protein-coding gene gene with protein product 600169 NA 8022771 Standard NM_001177519 NM_000247 NA Approved PERB11.1 uc003ntk.1 Q29983 OTTHUMG00000031073 ENST00000449934.2:c.996+103C>T chr6.hg19:g.31380340C>T NA hg19 CCDS56412.1 0.02 1.954786 TTCxATA COVERED NOVEL MICA-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076101.7 0 2.708226 KEEP 0 0 0 9 283 CC 0.99254 0.99246 0 + 23 60 794 0 0 69.110429 60 60 1755 107 ENST00000449934.2 0.277108 0.999919 PSMB8 5696 __UNKNOWN__ __UNKNOWN__ 6 32808618 32808618 __UNKNOWN__ 3'UTR SNP C C A rs532399974 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:32808618C>A ENST00000374882.3 - 0 999 PSMB8_ENST00000395339.3_3'UTR|PSMB8_ENST00000374881.2_3'UTR NM_148919.3 NP_683720.2 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111) threonine-type endopeptidase activity (GO:0004298) NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 Carfilzomib(DB08889) GCTGCTGAGCCCGTACTCTCT 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(48;53 1172 10859 13624 22883) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4756.1, CCDS4757.1 6p21.3 2013-03-27 2013-03-27 ENSG00000204264 ENSG00000204264 5696 Proteasome (prosome, macropain) subunits 9545 protein-coding gene gene with protein product 177046 proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7), large multifunctional peptidase 7 LMP7 NA 1529427, 10329130 Standard NM_148919 XM_005275000 NA Approved RING10, D6S216E, PSMB5i, beta5i uc003oce.3 P28062 OTTHUMG00000031285 ENST00000374882.3:c.*118G>T chr6.hg19:g.32808618C>A NA B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48 hg19 CCDS4757.1 0.02 8.147012 AGCxCGT COVERED NOVEL PSMB8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076617.3 0 17.153552 KEEP 0 0 0 57 1918 CC 1 1 0 - 51 60 1751 0 0 149.385677 155 60 5374 326 ENST00000374882.3 0.247573 1 PACSIN1 29993 __UNKNOWN__ __UNKNOWN__ 6 34498159 34498159 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:34498159G>A ENST00000538621.1 + 7 1154 PACSIN1_ENST00000374043.2_Intron|PACSIN1_ENST00000244458.2_Intron NM_001199583.2 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 NA NA actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488) axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202) phospholipid binding (GO:0005543) endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 ATGTGGGGATGGGAAGGGGAG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 65 65 65 NA NA NA 6 NA NA 34498159 2203 4300 6503 SO:0001627 intron_variant AB037800 CCDS4793.1 6p21.3 2008-02-05 ENSG00000124507 ENSG00000124507 29993 8570 protein-coding gene gene with protein product syndapin I 606512 NA 11179684 Standard NM_020804 NA Approved SDPI uc003ojp.4 Q9BY11 OTTHUMG00000014547 ENST00000538621.1:c.909+19G>A chr6.hg19:g.34498159G>A NA Q9P2G8 hg19 CCDS4793.1 0.02 12.756644 GATxGGA COVERED NOVEL PACSIN1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040236.1 1 19.559976 KEEP 0 0 0 65 2140 GG 1 1 0 + 97 60 3282 0 0 289.861701 219 60 7802 438 ENST00000538621.1 0.306962 1 KCNK17 89822 __UNKNOWN__ __UNKNOWN__ 6 39272450 39272450 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:39272450C>G ENST00000373231.4 - 3 585 KCNK17_ENST00000453413.2_Intron NM_031460.3 NP_113648.2 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 NA NA potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244) endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 AGAGGGGGCACTCAGGGGACA 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 87 87 87 NA NA NA 6 NA NA 39272450 2203 4300 6503 SO:0001627 intron_variant AF358910 CCDS4842.1, CCDS47419.1 6p21 2012-03-07 ENSG00000124780 ENSG00000124780 89822 Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P 14465 protein-coding gene gene with protein product 607370 NA 16382106 Standard NM_031460 NM_031460 NA Approved K2p17.1, TALK-2, TALK2, TASK4, TASK-4 uc003ooo.3 Q96T54 OTTHUMG00000014646 ENST00000373231.4:c.353-19G>C chr6.hg19:g.39272450C>G NA E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592 hg19 CCDS4842.1 0.02 13.253277 GCAxTCA COVERED NOVEL KCNK17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040453.2 0 9.931751 KEEP 0 0 0 33 1144 CC 0.999998 0.999998 0 - 65 60 2350 0 0 194.075814 274 60 9859 447 ENST00000373231.4 0.19174 1 RP11-444E17.6 0 __UNKNOWN__ __UNKNOWN__ 6 44253678 44253678 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:44253678G>T ENST00000505802.1 + 1 313 TCTE1_ENST00000371505.4_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron NA NA NA AGGGGTGGGGGGAAGGCTGGG 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 58 59 NA NA NA 6 NA NA 44253678 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA NA ENST00000505802.1:c.313+12435G>T chr6.hg19:g.44253678G>T NA hg19 0.02 3.843441 GGGxGAA COVERED NOVEL RP11-444E17.6-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000470403.1 2 3.310523 KEEP 0 0 0 11 368 GG 0.993072 0.99307 0 + 44 60 1258 0 0 113.265979 72 60 2468 153 ENST00000505802.1 0.37931 0.999998 COL21A1 81578 __UNKNOWN__ __UNKNOWN__ 6 55963780 55963780 __UNKNOWN__ Intron SNP T T G rs62404897 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:55963780T>G ENST00000244728.5 - 17 2210 COL21A1_ENST00000370819.1_Intron|COL21A1_ENST00000535941.1_Intron NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 NA NA extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) cccaaagtgctgggattacag 0.438 NA NA T||| 696 0.138978 0.1589 0.1527 5008 , , NA 11684 0.0853 NA 0.168 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF330693 CCDS55025.1 6p12.3-p11.2 2013-01-16 ENSG00000124749 ENSG00000124749 81578 Collagens 17025 protein-coding gene gene with protein product 610002 NA 11566190 Standard XR_241922 NA Approved uc003pcs.3 Q96P44 OTTHUMG00000014907 ENST00000244728.5:c.1812+2489A>C chr6.hg19:g.55963780T>G NA A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3 hg19 CCDS55025.1 0.02 -0.052638 TGCxGGG UNCOVERED NOVEL COL21A1-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041004.2 3 2.406608 KEEP 1 0 0 8 238 TT 0 0 0 - 3 60 104 0 0 10.369554 2 60 77 23 ENST00000244728.5 0.6 0.036766 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57400588 57400588 __UNKNOWN__ Intron SNP G G A rs74756130 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:57400588G>A ENST00000389488.2 + 10 1107 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) gtgacagagcgagactccatc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.1107+2271G>A chr6.hg19:g.57400588G>A NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.043861 AGCxAGA UNCOVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 4 2.407627 KEEP 1 0 0 8 270 GG 0 0 0 + 3 60 103 0 0 10.269954 2 60 64 20 ENST00000389488.2 0.6 0.024074 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57419198 57419198 __UNKNOWN__ Intron SNP A A G rs79743272 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:57419198A>G ENST00000389488.2 + 10 1107 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) tctcagcgctatgggtggcca 0.453 NA NA A||| 803 0.160343 0.0613 0.1744 5008 , , NA 26423 0.1696 NA 0.17 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.1107+20881A>G chr6.hg19:g.57419198A>G NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.385748 GCTxTGG COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 2 3.911002 KEEP 0 0 0 13 390 AA 0.995343 0.913895 0 + 3 60 101 0 0 7.21048 29 60 957 76 ENST00000389488.2 0.09375 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58445675 58445675 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:58445675T>C NA NA XXbac-BPG55C20.7 (147179 upstream) : RP11-143A22.1 (43212 downstream) NA NA NA GTTCCTTACTTACTCTAGCCT 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.58445675T>C NA hg19 0.02 8.309112 ACTxACT COVERED NOVEL 0 0 2.70216 KEEP 1 0 0 9 233 TT 0.99254 0.99254 0 8 24 295 0 0 18.197816 225 60 7280 252 0.034335 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58776572 58776572 __UNKNOWN__ IGR SNP T T G rs4569993 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:58776572T>G NA NA RP11-143A22.1 (262712 upstream) : None (None downstream) NA NA NA aatggaaatatctccccataa 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.58776572T>G NA hg19 0.02 17.518372 ATAxCTC COVERED NOVEL 0 30 12.90417 KEEP 1 2 69 67 2016 TT 1 1 0 23 60 844 0 0 56.23873 415 60 14171 631 0.052511 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58776716 58776716 __UNKNOWN__ IGR SNP T T G rs4520034 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:58776716T>G NA NA RP11-143A22.1 (262856 upstream) : None (None downstream) NA NA NA ttggacctcctagaggccttc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.58776716T>G NA hg19 0.02 17.342358 TCCxAGA COVERED NOVEL 0 22 10.433264 KEEP 5 3 89 66 2031 TT 1 1 0 27 60 924 0 0 64.282653 315 60 10951 608 0.078947 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58776766 58776766 __UNKNOWN__ IGR SNP A A T rs12192725 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:58776766A>T NA NA RP11-143A22.1 (262906 upstream) : None (None downstream) NA NA NA tacagagaagaattctcagta 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.58776766A>T NA hg19 0.02 13.417828 AAGxATT COVERED NOVEL 0 12 3.007991 KEEP 0 3 88 41 1254 AC 1 1 0 26 60 757 0 0 52.349476 217 60 7417 529 0.106996 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58776913 58776913 __UNKNOWN__ IGR SNP T T A rs4594979 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:58776913T>A NA NA RP11-143A22.1 (263053 upstream) : None (None downstream) NA NA NA aggaaacatcttcatgtaaaa 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.58776913T>A NA hg19 0.02 13.346139 ATCxTCA COVERED NOVEL 0 11 10.230102 KEEP 0 0 0 34 1054 TT 0.999998 0.999998 0 14 60 471 0 0 28.244725 338 60 11948 483 0.039773 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777451 58777451 __UNKNOWN__ IGR SNP T T A rs4388317 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:58777451T>A NA NA RP11-143A22.1 (263591 upstream) : None (None downstream) NA NA NA agaagcaatctcagaaactac 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.58777451T>A NA hg19 0.02 14.432798 ATCxCAG COVERED NOVEL 0 22 15.211296 KEEP 1 2 61 72 2225 TT 1 1 0 39 60 1344 0 0 99.445259 320 60 11447 565 0.108635 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 64181187 64181187 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:64181187T>C NA NA LGSN (151305 upstream) : RP5-1148A21.3 (99722 downstream) NA NA NA ctggccCAGATTCAGCCTTTT 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.64181187T>C NA hg19 0.02 -0.096505 AGAxTCA UNCOVERED NOVEL 0 2 2.708425 KEEP 0 0 0 9 294 TT 0.99254 0.119538 0 3 60 111 0 0 9.73222 8 60 286 26 0.272727 0.120436 C6orf57 135154 __UNKNOWN__ __UNKNOWN__ 6 71298533 71298533 __UNKNOWN__ 3'UTR SNP A A G rs13654 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:71298533A>G ENST00000370474.3 + 0 457 NM_145267.2 NP_660310.2 Q5VUM1 SDHF4_HUMAN chromosome 6 open reading frame 57 NA NA innate immune response (GO:0045087) extracellular region (GO:0005576)|mitochondrion (GO:0005739) kidney(1)|lung(1)|skin(1) 3 TGTAGTTTGTATAATGTGTTT 0.284 NA NA A||| 1758 0.351038 0.553 0.3746 5008 , , NA 11082 0.1319 NA 0.3837 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018085 CCDS4972.1 6q12 2011-12-13 ENSG00000154079 ENSG00000154079 135154 20957 protein-coding gene gene with protein product NA NA Standard NM_145267 NM_145267 NA Approved uc003pfq.1 Q5VUM1 OTTHUMG00000014992 ENST00000370474.3:c.*106A>G chr6.hg19:g.71298533A>G NA E1P532 hg19 CCDS4972.1 0.02 4.085945 TGTxTAA COVERED NOVEL C6orf57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041140.1 2 5.111734 KEEP 0 0 0 17 513 AA 0.999366 0.999366 0 + 15 60 551 0 0 41.222122 132 60 4539 210 ENST00000370474.3 0.102041 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 109659608 109659608 __UNKNOWN__ IGR SNP C C G rs34363181 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:109659608C>G NA NA CCDC162P (30185 upstream) : CD164 (28108 downstream) NA NA NA cacacacacacacacacacac 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.109659608C>G NA hg19 0.02 2.078552 ACAxACA COVERED NOVEL 0 9 3.598803 KEEP 1 1 19 19 598 CC 0.99986 0.999177 0 8 60 299 0 1 22.572267 69 60 2382 106 0.103896 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 109659614 109659614 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:109659614C>G NA NA CCDC162P (30191 upstream) : CD164 (28102 downstream) NA NA NA cacacacacacacacacacac 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.109659614C>G NA hg19 0.02 1.925997 ACAxACA COVERED NOVEL 0 9 5.970102 KEEP 1 1 11 24 801 CC 0.999909 0.999635 0 4 60 140 0 1 8.95237 79 60 2798 119 0.048193 0.999726 LAMA2 3908 __UNKNOWN__ __UNKNOWN__ 6 129618931 129618931 __UNKNOWN__ Nonsense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:129618931G>A ENST00000421865.2 + 21 3007 c.2958G>A c.(2956-2958)tgG>tgA p.W986* NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 986 Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}. NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383) structural molecule activity (GO:0005198) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GACAATGTTGGTGCCAACCTG 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 97 86 90 NA NA NA 6 NA NA 129618931 2203 4300 6503 SO:0001587 stop_gained Z26653 CCDS5138.1 6q22-q23 2014-09-17 2008-08-01 ENSG00000196569 ENSG00000196569 3908 Laminins 6482 protein-coding gene gene with protein product merosin, congenital muscular dystrophy 156225 LAMM NA 2185464, 8294519 Standard NM_000426 NA Approved uc003qbn.3 P24043 OTTHUMG00000015545 ENST00000421865.2:c.2958G>A chr6.hg19:g.129618931G>A ENSP00000400365:p.Trp986* NA Q14736|Q5VUM2|Q93022 hg19 CCDS5138.1 0.02 1.672465 TTGxTGC COVERED . . . . . . . . . . G 41 8.853191 0.98978 . . ENSG00000196569 ENST00000358023;ENST00000354729;ENST00000421865 . . . 5.59 5.59 0.84812 . 0.241291 0.36815 N 0.002388 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.37606 T 0.19 . 4.641 0.12548 0.0765:0.1315:0.5706:0.2214 . . . . X 986 . ENSP00000346769:W986X W + 3 0 LAMA2 129660624 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 0.710000 0.25748 2.631000 0.89168 0.650000 0.86243 TGG NOVEL LAMA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042180.1 2 3.606799 KEEP 0 0 0 12 386 GG 0.993634 0.993529 0 + 32 60 1093 0 0 98.569858 61 60 2125 123 ENST00000421865.2 0.344086 0.999895 VNN2 8875 __UNKNOWN__ __UNKNOWN__ 6 133079188 133079188 __UNKNOWN__ Intron SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:133079188T>A ENST00000525270.1 - 2 65 NM_078488.1 NP_511043 O95498 VNN2_HUMAN vanin 2 NA NA cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) pantetheine hydrolase activity (GO:0017159) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) ctttttttttttttttttttt 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB026705 CCDS5161.1, CCDS5162.1, CCDS56451.1 6q23-q24 2013-02-13 ENSG00000112303 ENSG00000112303 8875 3.5.1.92 Vanins 12706 protein-coding gene gene with protein product pantetheinase 603571 NA 9790769, 11491533 Standard NM_078488 NA Approved FOAP-4, GPI-80 uc003qdt.3 O95498 OTTHUMG00000015588 ENST00000525270.1:c.35-290A>T chr6.hg19:g.133079188T>A NA A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2 hg19 CCDS5162.1 0.02 -0.402704 TTTxTTT COVERED NOVEL VNN2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000390832.1 3 3.847196 KEEP 3 3 35 26 772 TT 0.999957 0.934452 0 - 5 60 113 0 2 7.766722 26 60 869 86 ENST00000525270.1 0.16129 0.934492 BCLAF1 9774 __UNKNOWN__ __UNKNOWN__ 6 136582417 136582417 __UNKNOWN__ Missense_Mutation SNP G G A rs62431283 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:136582417G>A ENST00000531224.1 - 12 2995 c.2743C>T c.(2743-2745)Cgc>Tgc p.R915C BCLAF1_ENST00000031135.9_Missense_Mutation_p.R133C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R864C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R866C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R864C|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R913C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R742C NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 915 NA apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTTCCTTGCGTCTGTCCTTC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(142;1534 1789 5427 7063 28491) NA NA 0 159 156 157 NA NA NA 6 NA NA 136582417 2203 4300 6503 SO:0001583 missense AF249273 CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1 6q22-q23 2007-03-02 ENSG00000029363 ENSG00000029363 9774 16863 protein-coding gene gene with protein product 612588 NA 8724849, 10330179 Standard NM_014739 NM_001077440 NA Approved KIAA0164, BTF uc003qgx.1 Q9NYF8 OTTHUMG00000033323 ENST00000531224.1:c.2743C>T chr6.hg19:g.136582417G>A ENSP00000435210:p.Arg915Cys NA A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 hg19 CCDS5177.1 0.02 8.058571 TGCxTCT COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 15.01|15.01 2.704940|2.704940 0.48412|0.48412 .|. .|. ENSG00000029363|ENSG00000029363 ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762 T;T;T;T;T;T;T|. 0.50001|. 4.26;4.26;4.26;2.36;4.26;0.76;4.26|. 5.71|5.71 5.71|5.71 0.89125|0.89125 .|. 0.000000|. 0.64402|. D|. 0.000009|. T|T 0.32823|0.32823 0.0842|0.0842 N|N 0.08118|0.08118 0|0 0.58432|0.58432 D|D 0.999997|0.999997 D;D;D;D;D|. 0.89917|. 1.0;1.0;1.0;1.0;1.0|. D;D;D;D;D|. 0.85130|. 0.988;0.997;0.988;0.988;0.988|. T|T 0.30822|0.30822 -0.9965|-0.9965 10|5 0.59425|. D|. 0.04|. -2.0E-4|-2.0E-4 18.034|18.034 0.89293|0.89293 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 rs62431283|rs62431283 913;194;864;915;742|. Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|. .;.;.;BCLF1_HUMAN;.|. C|M 915;864;866;742;913;133;864|181 ENSP00000435210:R915C;ENSP00000229446:R864C;ENSP00000435441:R866C;ENSP00000436501:R742C;ENSP00000434826:R913C;ENSP00000031135:R133C;ENSP00000376159:R864C|. ENSP00000031135:R133C|. R|T -|- 1|2 0|0 BCLAF1|BCLAF1 136624110|136624110 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.995000|0.995000 0.86356|0.86356 5.363000|5.363000 0.66104|0.66104 2.691000|2.691000 0.91804|0.91804 0.655000|0.655000 0.94253|0.94253 CGC|ACG NOVEL BCLAF1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042375.2 18 4.548101 KEEP 3 1 31 26 836 GG 0.999988 0.999988 0 - 73 60 2485 0 0 224.799892 135 60 4288 256 ENST00000531224.1 0.350962 1 BCLAF1 9774 __UNKNOWN__ __UNKNOWN__ 6 136589448 136589448 __UNKNOWN__ Missense_Mutation SNP C C A rs78267720 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:136589448C>A ENST00000531224.1 - 10 2501 c.2249G>T c.(2248-2250)cGa>cTa p.R750L BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R748L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R750L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R748L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R748L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R577L NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 750 Poly-Ser. NA apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGATGAAGATCGAGAATGATC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(142;1534 1789 5427 7063 28491) NA NA 0 106 91 97 NA NA NA 6 NA NA 136589448 2203 4300 6503 SO:0001583 missense AF249273 CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1 6q22-q23 2007-03-02 ENSG00000029363 ENSG00000029363 9774 16863 protein-coding gene gene with protein product 612588 NA 8724849, 10330179 Standard NM_014739 NM_001077440 NA Approved KIAA0164, BTF uc003qgx.1 Q9NYF8 OTTHUMG00000033323 ENST00000531224.1:c.2249G>T chr6.hg19:g.136589448C>A ENSP00000435210:p.Arg750Leu NA A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 hg19 CCDS5177.1 0.02 1.628589 GATxGAG COVERED . . . . . . . . . . C 18.02 3.529872 0.64860 . . ENSG00000029363 ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348 T;T;T;T;T;T 0.14022 2.54;2.54;2.54;2.54;2.54;2.54 4.97 4.97 0.65823 . 0.000000 0.47852 D 0.000213 T 0.20455 0.0492 L 0.47190 1.495 0.80722 D 1 D;D;D;D;D 0.71674 0.991;0.998;0.991;0.991;0.991 P;D;P;P;P 0.69654 0.771;0.965;0.771;0.771;0.771 T 0.00752 -1.1581 10 0.35671 T 0.21 -3.7893 16.7666 0.85525 0.0:1.0:0.0:0.0 . 748;78;748;750;577 Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4 .;.;.;BCLF1_HUMAN;. L 750;748;750;577;748;748 ENSP00000435210:R750L;ENSP00000229446:R748L;ENSP00000435441:R750L;ENSP00000436501:R577L;ENSP00000434826:R748L;ENSP00000376159:R748L ENSP00000229446:R748L R - 2 0 BCLAF1 136631141 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 4.587000 0.60991 2.478000 0.83669 0.484000 0.47621 CGA NOVEL BCLAF1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042375.2 48 2.241002 KEEP 0 1 30 18 580 CC 0.99986 0.999808 0 - 21 60 726 0 0 60.508768 77 60 2615 122 ENST00000531224.1 0.214286 0.999948 BCLAF1 9774 __UNKNOWN__ __UNKNOWN__ 6 136599822 136599822 __UNKNOWN__ Missense_Mutation SNP C C G rs9942517 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:136599822C>G ENST00000531224.1 - 4 449 c.197G>C c.(196-198)gGa>gCa p.G66A BCLAF1_ENST00000392348.2_Missense_Mutation_p.G64A|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G66A|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G64A|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G64A|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G66A NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 66 NA G -> A (in dbSNP:rs9942517). apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCGTCTCATTCCTCTATTATT 0.413 NA NA C||| 0 0 0 0 5008 , , NA 18998 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA Colon(142;1534 1789 5427 7063 28491) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF249273 CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1 6q22-q23 2007-03-02 ENSG00000029363 ENSG00000029363 9774 16863 protein-coding gene gene with protein product 612588 NA 8724849, 10330179 Standard NM_014739 NM_001077440 NA Approved KIAA0164, BTF uc003qgx.1 Q9NYF8 OTTHUMG00000033323 ENST00000531224.1:c.197G>C chr6.hg19:g.136599822C>G ENSP00000435210:p.Gly66Ala NA A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 hg19 CCDS5177.1 0.02 4.348008 ATTxCTC COVERED 1091 0.49954212454212454 244 0.4959349593495935 182 0.5027624309392266 286 0.5 379 0.5 C 16.59 3.165888 0.57476 . . ENSG00000029363 ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826 T;T;T;T;T;T;T 0.66815 0.12;-0.16;-0.11;-0.23;0.05;-0.16;-0.22 5.64 5.64 0.86602 . 0.000000 0.64402 D 0.000014 T 0.76528 0.4000 L 0.57536 1.79 0.09310 P 1.0 D;D;D;D 0.76494 0.999;0.999;0.999;0.999 D;D;D;D 0.79108 0.992;0.992;0.992;0.992 T 0.75374 -0.3340 9 0.49607 T 0.09 -13.0213 19.6986 0.96043 0.0:1.0:0.0:0.0 rs9942517;rs61417605 64;64;66;66 Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4 .;.;BCLF1_HUMAN;. A 66;64;66;66;64;64;66 ENSP00000435210:G66A;ENSP00000229446:G64A;ENSP00000435441:G66A;ENSP00000436501:G66A;ENSP00000434826:G64A;ENSP00000376159:G64A;ENSP00000431734:G66A ENSP00000229446:G64A G - 2 0 BCLAF1 136641515 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.655000 0.67981 2.660000 0.90430 0.557000 0.71058 GGA NOVEL BCLAF1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042375.2 20 3.91256 KEEP 0 0 0 13 443 CC 0.994391 0.994391 0 - 25 60 827 0 0 69.963433 77 60 2727 174 ENST00000531224.1 0.245098 1 BCLAF1 9774 __UNKNOWN__ __UNKNOWN__ 6 136599842 136599842 __UNKNOWN__ Silent SNP G G A rs9942519 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:136599842G>A ENST00000531224.1 - 4 429 c.177C>T c.(175-177)cgC>cgT p.R59R BCLAF1_ENST00000392348.2_Silent_p.R57R|BCLAF1_ENST00000527536.1_Silent_p.R59R|BCLAF1_ENST00000353331.4_Silent_p.R57R|BCLAF1_ENST00000527759.1_Silent_p.R57R|BCLAF1_ENST00000530767.1_Silent_p.R59R NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 59 NA apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTCTGTAATCGCGACGATAAT 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(142;1534 1789 5427 7063 28491) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AF249273 CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1 6q22-q23 2007-03-02 ENSG00000029363 ENSG00000029363 9774 16863 protein-coding gene gene with protein product 612588 NA 8724849, 10330179 Standard NM_014739 NM_001077440 NA Approved KIAA0164, BTF uc003qgx.1 Q9NYF8 OTTHUMG00000033323 ENST00000531224.1:c.177C>T chr6.hg19:g.136599842G>A NA A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 hg19 CCDS5177.1 0.02 3.93595 ATCxCGA COVERED NOVEL BCLAF1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042375.2 23 2.541161 KEEP 0 1 30 19 629 GG 0.999863 0.999863 0 - 16 60 505 0 0 39.681351 76 60 2566 184 ENST00000531224.1 0.173913 1 BCLAF1 9774 __UNKNOWN__ __UNKNOWN__ 6 136600949 136600949 __UNKNOWN__ Missense_Mutation SNP G G A rs149618892 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:136600949G>A ENST00000531224.1 - 3 308 c.56C>T c.(55-57)tCt>tTt p.S19F BCLAF1_ENST00000392348.2_Missense_Mutation_p.S19F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S19F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S19F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S19F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S19F NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 19 NA apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) p.S19F(3) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCGAGAACTAGACTGTGATCT 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(142;1534 1789 5427 7063 28491) NA NA 3 Substitution - Missense(3) central_nervous_system(2)|skin(1) 86 78 80 NA NA NA 6 NA NA 136600949 2203 4300 6503 SO:0001583 missense AF249273 CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1 6q22-q23 2007-03-02 ENSG00000029363 ENSG00000029363 9774 16863 protein-coding gene gene with protein product 612588 NA 8724849, 10330179 Standard NM_014739 NM_001077440 NA Approved KIAA0164, BTF uc003qgx.1 Q9NYF8 OTTHUMG00000033323 ENST00000531224.1:c.56C>T chr6.hg19:g.136600949G>A ENSP00000435210:p.Ser19Phe NA A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 hg19 CCDS5177.1 0.02 5.554314 CTAxACT COVERED . . . . . . . . . . G 20.4 3.987509 0.74589 . . ENSG00000029363 ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826 T;T;T;T;T;T;T 0.43294 1.34;1.16;1.19;0.95;1.3;1.16;1.06 5.97 5.97 0.96955 . 0.000000 0.64402 D 0.000004 T 0.51398 0.1672 L 0.38175 1.15 0.80722 D 1 D;D;D;D 0.69078 0.997;0.997;0.997;0.997 D;D;D;D 0.80764 0.994;0.994;0.994;0.991 T 0.52238 -0.8602 10 0.87932 D 0 -8.8653 20.4324 0.99085 0.0:0.0:1.0:0.0 . 19;19;19;19 Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4 .;.;BCLF1_HUMAN;. F 19 ENSP00000435210:S19F;ENSP00000229446:S19F;ENSP00000435441:S19F;ENSP00000436501:S19F;ENSP00000434826:S19F;ENSP00000376159:S19F;ENSP00000431734:S19F ENSP00000229446:S19F S - 2 0 BCLAF1 136642642 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.918000 0.87506 2.833000 0.97629 0.585000 0.79938 TCT NOVEL BCLAF1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042375.2 14 12.038539 KEEP 1 0 0 40 1390 GG 1 1 0 - 11 60 383 0 0 26.124945 150 60 5372 234 ENST00000531224.1 0.068323 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 143851139 143851139 __UNKNOWN__ IGR SNP C C G rs111531110 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:143851139C>G NA NA FUCA2 (18312 upstream) : PHACTR2 (6842 downstream) NA NA NA aggatggtctcgatctcctga 0.562 NA NA -||| 674 0.134585 0.0091 0.2147 5008 , , NA 14343 0.0119 NA 0.3837 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr6.hg19:g.143851139C>G NA hg19 0.02 -0.017546 TCTxGAT UNCOVERED NOVEL 0 5 2.407612 KEEP 5 0 0 8 267 CC 0 0 0 2 40 72 0 0 8.15397 0 0 0 15 1 0 GRM1 2911 __UNKNOWN__ __UNKNOWN__ 6 146387901 146387901 __UNKNOWN__ Intron SNP G G A rs34015329|rs6570735|rs199929192 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:146387901G>A ENST00000282753.1 + 1 935 GRM1_ENST00000361719.2_Intron|GRM1_ENST00000392299.2_Intron|GRM1_ENST00000492807.2_Intron|GRM1_ENST00000507907.1_Intron|GRM1_ENST00000355289.4_Intron Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 NA NA activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268) dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) AGACAGACAGGCagagagaga 0.393 NA NA A||| 2223 0.44389 0.5711 0.2983 5008 , , NA 19119 0.3125 NA 0.4324 False NA ,,, NA NA NA 2504 0.5225 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U31215 CCDS5209.1, CCDS47497.1, CCDS64548.1 6q24 2014-06-12 ENSG00000152822 ENSG00000152822 2911 GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors 4593 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 85 604473 NA 9076744, 9376535 Standard NM_000838 NM_001278064 NA Approved GPRC1A, mGlu1, MGLUR1, PPP1R85 uc010khw.2 Q13255 OTTHUMG00000015752 ENST00000282753.1:c.700+36548G>A chr6.hg19:g.146387901G>A NA B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0 hg19 CCDS5209.1 0.02 -0.087713 CAGxCAG UNCOVERED NOVEL GRM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042574.1 23 4.212995 KEEP 24 0 0 14 467 GG 0 0 0 + 2 60 60 1 0 6.95328 0 0 0 52 ENST00000282753.1 1 0.099721 SASH1 23328 __UNKNOWN__ __UNKNOWN__ 6 148854003 148854003 __UNKNOWN__ Missense_Mutation SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:148854003T>G ENST00000367467.3 + 14 2110 c.1635T>G c.(1633-1635)gaT>gaG p.D545E NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 545 NA positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044) membrane (GO:0016020)|protein complex (GO:0043234) mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901) breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) AAGATGGGGATGACGAAGAGC 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 118 116 117 NA NA NA 6 NA NA 148854003 2203 4300 6503 SO:0001583 missense AB018333 CCDS5212.1 6q24.3 2013-01-10 ENSG00000111961 ENSG00000111961 23328 SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing 19182 protein-coding gene gene with protein product 607955 NA 9872452, 12771949 Standard NM_015278 NM_015278 NA Approved KIAA0790, dJ323M4.1, SH3D6A uc003qme.1 O94885 OTTHUMG00000015773 ENST00000367467.3:c.1635T>G chr6.hg19:g.148854003T>G ENSP00000356437:p.Asp545Glu NA Q5TGN5|Q8TAI0|Q9H7R7 hg19 CCDS5212.1 0.02 16.215469 GGAxGAC COVERED . . . . . . . . . . T 14.43 2.533619 0.45073 . . ENSG00000111961 ENST00000367467;ENST00000535767 T 0.37058 1.22 4.75 0.966 0.19667 Src homology-3 domain (1); 0.047879 0.85682 D 0.000000 T 0.28797 0.0714 L 0.36672 1.1 0.39236 D 0.963768 P;D 0.56968 0.787;0.978 P;D 0.69654 0.726;0.965 T 0.05194 -1.0900 10 0.38643 T 0.18 -23.4853 8.7117 0.34387 0.0:0.2225:0.0:0.7775 . 526;545 Q6P4R9;O94885 .;SASH1_HUMAN E 545;306 ENSP00000356437:D545E ENSP00000356437:D545E D + 3 2 SASH1 148895696 0.807000 0.29009 0.876000 0.34364 0.547000 0.35210 -0.130000 0.10498 0.024000 0.15214 0.533000 0.62120 GAT NOVEL SASH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042619.1 3 68.684343 KEEP 0 3 28 239 7014 TT 1 1 0 + 141 60 5115 0 0 470.769393 235 60 7843 815 ENST00000367467.3 0.375 1 SOD2 6648 __UNKNOWN__ __UNKNOWN__ 6 160132571 160132571 __UNKNOWN__ Intron SNP T T C rs199965167 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:160132571T>C ENST00000546087.1 - 4 1713 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial NA NA age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) accactcacattgctctgatc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M36693 CCDS5265.1, CCDS34564.1 6q25 2008-02-05 ENSG00000112096 ENSG00000112096 6648 1.15.1.1 11180 protein-coding gene gene with protein product 147460 NA Standard NM_000636 NM_000636 NA Approved uc003qsg.3 P04179 OTTHUMG00000015940 ENST00000546087.1:c.115-18676A>G chr6.hg19:g.160132571T>C NA B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3 hg19 0.02 -0.27194 ACAxTGC COVERED NOVEL SOD2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399943.1 2 9.025378 KEEP 13 0 0 30 898 TT 0.999997 0.717313 0 - 12 31 433 0 0 40.483703 17 60 584 89 ENST00000546087.1 0.413793 0.717315 SLC22A2 6582 __UNKNOWN__ __UNKNOWN__ 6 160638375 160638375 __UNKNOWN__ 3'UTR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:160638375G>C ENST00000366953.3 - 0 2015 NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 NA NA body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495) TGGTTGAGTTGTATGGGCTTT 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X98333 CCDS5276.1 6q25.3 2013-05-22 ENSG00000112499 ENSG00000112499 6582 Solute carriers 10966 protein-coding gene gene with protein product 602608 NA 9605850 Standard NM_003058 NM_003058 NA Approved OCT2 uc003qtf.3 O15244 OTTHUMG00000015950 ENST00000366953.3:c.*89C>G chr6.hg19:g.160638375G>C NA Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9 hg19 CCDS5276.1 0.02 14.744702 GTTxTAT COVERED NOVEL SLC22A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042943.1 0 18.051346 KEEP 0 0 0 60 2030 GG 1 1 0 - 11 60 403 0 0 24.022159 362 60 13107 529 ENST00000366953.3 0.029491 1 TCP10L2 401285 __UNKNOWN__ __UNKNOWN__ 6 167593652 167593652 __UNKNOWN__ Intron SNP C C T rs78857152 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:167593652C>T ENST00000366832.2 + 7 900 NM_001145121.1 NP_001138593.1 B9ZVM9 TCP2L_HUMAN t-complex 10-like 2 NA NA endometrium(1)|kidney(2)|lung(3) 6 CCACAACCTCCAGGCATCATC 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47514.1 6q27 2012-09-20 2012-09-20 ENSG00000166984 ENSG00000166984 401285 21254 protein-coding gene gene with protein product NA t-complex 10-like 2 (mouse) NA Standard XR_040749 NM_001145121 NA Approved bA517H2.3 uc010kkp.3 B9ZVM9 OTTHUMG00000016014 ENST00000366832.2:c.770-469C>T chr6.hg19:g.167593652C>T NA hg19 CCDS47514.1 0.02 1.959631 CTCxAGG COVERED NOVEL TCP10L2-001 NOVEL not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043112.5 4 8.727728 KEEP 55 0 0 29 985 CC 0.999859 0.999347 0 + 9 27 337 0 0 25.67409 73 50 2592 186 ENST00000366832.2 0.109756 0.999487 TCP10L2 401285 __UNKNOWN__ __UNKNOWN__ 6 167596056 167596056 __UNKNOWN__ 3'UTR SNP A A G rs62439161 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:167596056A>G ENST00000366832.2 + 0 1845 NM_001145121.1 NP_001138593.1 B9ZVM9 TCP2L_HUMAN t-complex 10-like 2 NA NA endometrium(1)|kidney(2)|lung(3) 6 GTGCATGGAGAAACCAATCGC 0.517 NA NA a||| 1580 0.315495 0.1309 0.317 5008 , , NA 16016 0.4236 NA 0.3718 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS47514.1 6q27 2012-09-20 2012-09-20 ENSG00000166984 ENSG00000166984 401285 21254 protein-coding gene gene with protein product NA t-complex 10-like 2 (mouse) NA Standard XR_040749 NM_001145121 NA Approved bA517H2.3 uc010kkp.3 B9ZVM9 OTTHUMG00000016014 ENST00000366832.2:c.*652A>G chr6.hg19:g.167596056A>G NA hg19 CCDS47514.1 0.02 28.533035 GAGxAAC COVERED NOVEL TCP10L2-001 NOVEL not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043112.5 4 15.219853 KEEP 81 8 267 144 4467 AA 1 1 0 + 63 47 2145 0 0 151.654559 667 60 23175 1158 ENST00000366832.2 0.086301 1 TCP10 6953 __UNKNOWN__ __UNKNOWN__ 6 167787862 167787862 __UNKNOWN__ Missense_Mutation SNP C C A rs79258919 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:167787862C>A ENST00000397829.4 - 7 933 c.766G>T c.(766-768)Gcc>Tcc p.A256S TCP10_ENST00000366827.2_Missense_Mutation_p.A256S NM_004610.3 NP_004601.3 Q12799 TCP10_HUMAN t-complex 10 283 NA cytosol (GO:0005829) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CTGTCTGGGGCAGAACTGGCG 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 55 59 58 NA NA NA 6 NA NA 167787862 1904 4082 5986 SO:0001583 missense U03399 CCDS43527.1 6q27 2012-09-20 2012-09-20 ENSG00000203690 ENSG00000203690 6953 11656 protein-coding gene gene with protein product 187020 t-complex 10 (a murine tcp homolog), t-complex 10 (mouse), t-complex 10 homolog (mouse) NA 8111376 Standard NM_004610 NM_004610 NA Approved uc003qvv.1 Q12799 OTTHUMG00000016026 ENST00000397829.4:c.766G>T chr6.hg19:g.167787862C>A ENSP00000380929:p.Ala256Ser NA Q5JR60|Q6P4F4 hg19 CCDS43527.1 0.02 13.002767 GGGxAGA COVERED 477 0.2184065934065934 58 0.11788617886178862 89 0.24585635359116023 165 0.28846153846153844 165 0.21767810026385223 A 0.026 -1.372739 0.01214 . . ENSG00000203690 ENST00000366827;ENST00000397829 T;T 0.23754 1.89;1.95 1.38 0.0652 0.14356 . . . . . T 0.02047 0.0064 N 0.01874 -0.695 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.44620 -0.9316 9 0.30854 T 0.27 . 2.2537 0.04050 0.4387:0.3115:0.2498:0.0 . 283;283 Q12799;Q12799-2 TCP10_HUMAN;. S 256 ENSP00000355792:A256S;ENSP00000380929:A256S ENSP00000355792:A256S A - 1 0 TCP10 167707852 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.174000 0.09839 -0.445000 0.07159 -0.824000 0.03097 GCC NOVEL TCP10-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000365570.1 4 11.329546 KEEP 124 10 284 138 4759 CC 1 1 0 - 22 27 730 0 0 46.829947 366 60 13222 782 ENST00000397829.4 0.056701 1 TCP10 6953 __UNKNOWN__ __UNKNOWN__ 6 167789404 167789404 __UNKNOWN__ Intron SNP C C G rs28409124 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:167789404C>G ENST00000397829.4 - 6 856 TCP10_ENST00000366827.2_Intron NM_004610.3 NP_004601.3 Q12799 TCP10_HUMAN t-complex 10 NA NA cytosol (GO:0005829) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) AGAAAGCCCCCCACTTTACAG 0.557 NA NA N||| 1311 0.261781 0.1914 0.2378 5008 , , NA 16396 0.253 NA 0.336 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA NA 0 G 866,3018 113,640,1189 11 13 12 NA -3.1 0 6 dbSNP_125 12 2477,5713 480,1517,2098 no intron TCP10 NM_004610.3 593,2157,3287 GG,GC,CC NA 30.2442,22.2966,27.6876 167789404 3343,8731 1942 4095 6037 SO:0001627 intron_variant U03399 CCDS43527.1 6q27 2012-09-20 2012-09-20 ENSG00000203690 ENSG00000203690 6953 11656 protein-coding gene gene with protein product 187020 t-complex 10 (a murine tcp homolog), t-complex 10 (mouse), t-complex 10 homolog (mouse) NA 8111376 Standard NM_004610 NM_004610 NA Approved uc003qvv.1 Q12799 OTTHUMG00000016026 ENST00000397829.4:c.688+49G>C chr6.hg19:g.167789404C>G NA Q5JR60|Q6P4F4 hg19 CCDS43527.1 0.02 5.10475 CCCxCAC COVERED NOVEL TCP10-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000365570.1 3 10.702001 KEEP 82 3 98 70 2321 CC 1 1 0 - 9 27 262 0 0 15.36295 157 60 5421 358 ENST00000397829.4 0.054217 1 WDR27 253769 __UNKNOWN__ __UNKNOWN__ 6 170060934 170060934 __UNKNOWN__ Intron SNP C C T rs56186829 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:170060934C>T ENST00000448612.1 - 10 1135 WDR27_ENST00000546525.1_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000333572.6_Intron|WDR27_ENST00000423258.1_Intron NM_182552.4 NP_872358.4 A2RRH5 WDR27_HUMAN WD repeat domain 27 NA NA nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CGTGCGCCCCCTGGCCTGGCT 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 253769 WD repeat domain containing 21248 protein-coding gene gene with protein product NA NA Standard NM_182552 NM_182552 NA Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.1026-72G>A chr6.hg19:g.170060934C>T NA A5PLM8|C9JGV0|Q5T066 hg19 CCDS47520.2 0.02 1.848275 CCCxTGG COVERED NOVEL WDR27-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000407334.1 1 2.688912 KEEP 1 0 0 9 267 CC 0.99257 0.990484 0 - 5 21 177 1 0 12.504802 58 60 2042 89 ENST00000448612.1 0.079365 0.997898 WDR27 253769 __UNKNOWN__ __UNKNOWN__ 6 170061098 170061098 __UNKNOWN__ Intron SNP C C T rs80345733 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr6:170061098C>T ENST00000448612.1 - 10 1135 WDR27_ENST00000546525.1_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000333572.6_Intron|WDR27_ENST00000423258.1_Intron NM_182552.4 NP_872358.4 A2RRH5 WDR27_HUMAN WD repeat domain 27 NA NA nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GAGTGGGGAGCGTGGGCGTTG 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 253769 WD repeat domain containing 21248 protein-coding gene gene with protein product NA NA Standard NM_182552 NM_182552 NA Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.1026-236G>A chr6.hg19:g.170061098C>T NA A5PLM8|C9JGV0|Q5T066 hg19 CCDS47520.2 0.02 1.927879 GAGxGTG COVERED NOVEL WDR27-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000407334.1 0 2.708266 KEEP 0 0 0 9 289 CC 0.99254 0.98629 0 - 13 55 380 0 0 31.040976 43 60 1499 88 ENST00000448612.1 0.232143 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 5926002 5926002 __UNKNOWN__ IGR SNP A A T rs13309941 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:5926002A>T NA NA OCM (9 upstream) : CCZ1 (12362 downstream) NA NA NA TCATCTGCTGATGTGTGGGCG 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.5926002A>T NA hg19 0.02 16.149267 CTGxTGT COVERED NOVEL 0 1 13.220835 KEEP 18 0 0 44 1306 AA 1 1 0 17 39 575 0 0 33.680199 466 60 15840 650 0.035197 1 USP42 84132 __UNKNOWN__ __UNKNOWN__ 7 6189971 6189971 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:6189971G>T ENST00000306177.5 + 13 2264 NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 NA NA cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CGTTTGTGGCGGTTCCCTTGG 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 17 20 19 NA NA NA 7 NA NA 6189971 2019 4168 6187 SO:0001627 intron_variant AK022759 CCDS47535.1 7p22.2 2005-08-08 2005-08-08 ENSG00000106346 ENSG00000106346 84132 Ubiquitin-specific peptidases 20068 protein-coding gene gene with protein product NA ubiquitin specific protease 42 NA 12838346 Standard XM_166526 NM_032172 NA Approved FLJ12697 uc011jwp.2 Q9H9J4 OTTHUMG00000151888 ENST00000306177.5:c.2106+38G>T chr7.hg19:g.6189971G>T NA A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4 hg19 CCDS47535.1 0.02 8.979858 GGCxGTT COVERED NOVEL USP42-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324262.3 0 12.893257 KEEP 0 0 0 43 1381 GG 1 1 0 + 74 60 2603 0 0 237.979322 128 60 4217 300 ENST00000306177.5 0.366337 1 CCZ1B 221960 __UNKNOWN__ __UNKNOWN__ 7 6866031 6866031 __UNKNOWN__ 5'UTR SNP G G C rs375488413 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:6866031G>C ENST00000316731.8 - 0 370 NM_198097.3 NP_932765.1 P86790 CCZ1B_HUMAN CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) NA NA lysosome (GO:0005764)|membrane (GO:0016020) NA TTTGTGTTTTGCTGGCTCGCG 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC010130 CCDS5354.1 7p22.2 2011-11-24 2011-11-24 2011-11-24 ENSG00000146574 ENSG00000146574 221960 21717 protein-coding gene gene with protein product similar to CGI-43 protein NA chromosome 7 open reading frame 28B C7orf28B NA 12477932 Standard NM_198097 NM_198097 NA Approved DKFZP586I1023, H_NH0577018.2, MGC19819 uc003sqx.2 P86790 OTTHUMG00000152441 ENST00000316731.8:c.-203C>G chr7.hg19:g.6866031G>C NA A2RU45|O95766|Q9UG65|Q9Y359 hg19 CCDS5354.1 0.02 5.847699 TTTxCTG COVERED NOVEL CCZ1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246858.1 4 5.646795 KEEP 6 5 157 74 2558 GG 1 1 0 - 15 39 488 0 0 35.61712 118 60 4211 336 ENST00000316731.8 0.112782 1 GLCCI1 113263 __UNKNOWN__ __UNKNOWN__ 7 8099634 8099634 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:8099634A>G ENST00000223145.5 + 5 1370 GLCCI1_ENST00000474269.1_Intron NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 NA NA cytoplasm (GO:0005737) endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) AACTCCGTTCATTGAGTTTCA 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC050291 CCDS34601.1 7p22.2 2008-08-18 ENSG00000106415 ENSG00000106415 113263 18713 protein-coding gene gene with protein product 614283 NA Standard NM_138426 NM_138426 NA Approved GIG18, FAM117C, TSSN1 uc003srk.4 Q86VQ1 OTTHUMG00000151984 ENST00000223145.5:c.814-92A>G chr7.hg19:g.8099634A>G NA A4D103|Q96FD0 hg19 CCDS34601.1 0.02 1.312442 TTCxTTG COVERED NOVEL GLCCI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324672.1 1 2.707019 KEEP 0 0 0 9 264 AA 0.99254 0.992503 0 + 42 60 1279 0 0 118.387011 58 60 2001 110 ENST00000223145.5 0.42 0.999962 AHR 196 __UNKNOWN__ __UNKNOWN__ 7 17384229 17384229 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:17384229G>A ENST00000242057.4 + 0 4731 NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor NA NA apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393) TGGTTTAAAAGAAAAAATGAC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L19872 CCDS5366.1 7p15 2013-05-21 ENSG00000106546 ENSG00000106546 196 Basic helix-loop-helix proteins 348 protein-coding gene gene with protein product 600253 NA 8125016 Standard NM_001621 NM_001621 NA Approved bHLHe76 uc011jxz.1 P35869 OTTHUMG00000149967 ENST00000242057.4:c.*1541G>A chr7.hg19:g.17384229G>A NA A4D130|Q13728|Q13803|Q13804 hg19 CCDS5366.1 0.02 1.580173 AAAxAAA COVERED NOVEL AHR-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314620.2 2 3.009338 KEEP 0 0 0 10 334 GG 0.992708 0.978962 0 + 11 60 168 0 0 10.03028 48 60 1648 86 ENST00000242057.4 0.186441 0.986153 NEUROD6 63974 __UNKNOWN__ __UNKNOWN__ 7 31378446 31378446 __UNKNOWN__ Missense_Mutation SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:31378446A>T ENST00000297142.3 - 2 759 c.437T>A c.(436-438)cTt>cAt p.L146H NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 146 bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}. NA cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) p.L146P(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 AATTTCAGAAAGTGCCCAGAT 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) prostate(1) 70 72 71 NA NA NA 7 NA NA 31378446 2203 4300 6503 SO:0001583 missense AF248954 CCDS5434.1 7p15.1 2013-05-21 2012-02-22 ENSG00000164600 ENSG00000164600 63974 Basic helix-loop-helix proteins 13804 protein-coding gene gene with protein product 611513 neurogenic differentiation 6 NA 12357074 Standard NM_022728 NM_022728 NA Approved Atoh2, NEX1M, Math-2, bHLHa2, Nex1 uc003tch.4 Q96NK8 OTTHUMG00000022865 ENST00000297142.3:c.437T>A chr7.hg19:g.31378446A>T ENSP00000297142:p.Leu146His NA Q548T9|Q9H3H6 hg19 CCDS5434.1 0.02 14.415988 GAAxGTG COVERED . . . . . . . . . . A 15.42 2.827050 0.50739 . . ENSG00000164600 ENST00000297142 D 0.95918 -3.85 5.25 4.1 0.47936 Helix-loop-helix DNA-binding (5); 0.119152 0.64402 D 0.000018 D 0.98548 0.9515 H 0.99238 4.48 0.80722 D 1 D 0.76494 0.999 D 0.67900 0.954 D 0.97992 1.0355 10 0.87932 D 0 -17.7651 10.911 0.47108 0.9261:0.0:0.0739:0.0 . 146 Q96NK8 NDF6_HUMAN H 146 ENSP00000297142:L146H ENSP00000297142:L146H L - 2 0 NEUROD6 31344971 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.281000 0.95811 0.844000 0.35094 0.528000 0.53228 CTT NOVEL NEUROD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215050.1 4 7.657228 KEEP 0 1 33 37 1149 AA 1 1 0 - 143 60 4933 1 0 455.36031 222 60 7851 491 ENST00000297142.3 0.391781 1 FKBP9 11328 __UNKNOWN__ __UNKNOWN__ 7 33019054 33019054 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:33019054C>A ENST00000242209.4 + 5 872 FKBP9_ENST00000538336.1_Intron|FKBP9_ENST00000538443.1_Intron|FKBP9_ENST00000489038.1_Intron|AVL9_ENST00000404479.1_Intron NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa NA NA chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) CAGCAGCCGGCTTTCAGCAGA 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF089745 CCDS5439.1, CCDS64622.1, CCDS64623.1 7p11.1 2013-01-10 2002-08-29 ENSG00000122642 ENSG00000122642 11328 EF-hand domain containing 3725 protein-coding gene gene with protein product NA FK506-binding protein 9 (63 kD) NA 12036304 Standard NM_007270 NM_007270 NA Approved FKBP60, FKBP63 uc003tdh.3 O95302 OTTHUMG00000097847 ENST00000242209.4:c.704-922C>A chr7.hg19:g.33019054C>A NA B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9 hg19 CCDS5439.1 0.02 6.023183 CGGxTTT COVERED NOVEL FKBP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215137.1 2 6.018669 KEEP 0 0 0 20 660 CC 0.999863 0.999863 0 + 58 60 1899 0 0 173.478327 95 60 3257 183 ENST00000242209.4 0.379085 1 NT5C3A 51251 __UNKNOWN__ __UNKNOWN__ 7 33054388 33054388 __UNKNOWN__ Missense_Mutation SNP T T C rs79747830 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:33054388T>C ENST00000610140.1 - 9 1023 c.950A>G c.(949-951)gAt>gGt p.D317G NT5C3A_ENST00000242210.7_Missense_Mutation_p.D322G|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D271G|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D283G|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D271G|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000396152.2_Missense_Mutation_p.D283G Q9H0P0 5NT3A_HUMAN 5'-nucleotidase, cytosolic IIIA 322 NA dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783) 2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166) p.D322G(1) NA TAATGATTCATCTTGTACTAA 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) skin(1) 103 105 104 NA NA NA 7 NA NA 33054388 2203 4298 6501 SO:0001583 missense AF312735 CCDS34616.1, CCDS34617.1, CCDS55101.1 7p14.3 2013-03-06 2013-03-06 2013-03-06 ENSG00000122643 ENSG00000122643 51251 3.1.3.5 17820 protein-coding gene gene with protein product lupin 606224 5'-nucleotidase, cytosolic III NT5C3 NA 11042152, 10942414 Standard NM_016489 NM_001002010 NA Approved UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1 uc003tdk.4 Q9H0P0 OTTHUMG00000152983 ENST00000610140.1:c.950A>G chr7.hg19:g.33054388T>C ENSP00000476480:p.Asp317Gly NA A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45 hg19 0.02 12.78967 TCAxCTT COVERED . . . . . . . . . . T 26.2 4.714928 0.89112 . . ENSG00000122643 ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467 D;D;D;D;D 0.89343 -2.5;-2.5;-2.5;-2.5;-2.5 5.94 5.94 0.96194 HAD-like domain (1); 0.323125 0.35646 N 0.003065 D 0.95564 0.8558 M 0.93197 3.39 0.80722 D 1 P;P 0.50369 0.934;0.553 P;P 0.60949 0.881;0.531 D 0.96469 0.9347 10 0.87932 D 0 . 16.4075 0.83691 0.0:0.0:0.0:1.0 . 322;283 Q9H0P0;Q9H0P0-1 5NT3_HUMAN;. G 271;283;322;283;271 ENSP00000371039:D271G;ENSP00000379456:D283G;ENSP00000242210:D322G;ENSP00000385261:D283G;ENSP00000387166:D271G ENSP00000242210:D322G D - 2 0 NT5C3 33020913 1.000000 0.71417 0.960000 0.40013 0.989000 0.77384 8.040000 0.89188 2.275000 0.75901 0.528000 0.53228 GAT NOVEL NT5C3A-011 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000473102.1 0 10.49873 KEEP 1 2 69 59 1796 TT 1 1 0 - 18 49 624 0 0 40.57018 317 60 10908 454 ENST00000610140.1 0.053731 1 SFRP4 6424 __UNKNOWN__ __UNKNOWN__ 7 37945850 37945850 __UNKNOWN__ 3'UTR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:37945850T>C ENST00000436072.2 - 0 2649 EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 NA NA brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634) PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 taggattagataggattttat 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF026692 CCDS5453.1 7p14.1 2008-07-18 ENSG00000106483 ENSG00000106483 6424 Secreted frizzled-related proteins 10778 protein-coding gene gene with protein product 606570 NA 10211996 Standard NM_003014 NM_003014 NA Approved frpHE, FRP-4, FRPHE uc003tfo.4 Q6FHJ7 OTTHUMG00000023026 ENST00000436072.2:c.*1231A>G chr7.hg19:g.37945850T>C NA B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64 hg19 CCDS5453.1 0.02 4.487675 AGAxAGG COVERED NOVEL SFRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000220017.2 0 6.314866 KEEP 0 0 0 21 609 TT 0.999869 0.999868 0 - 52 60 1891 0 0 177.292754 72 60 2408 163 ENST00000436072.2 0.419355 0.999999 POLR2J4 84820 __UNKNOWN__ __UNKNOWN__ 7 44033340 44033340 __UNKNOWN__ RNA SNP A A G rs3966216 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:44033340A>G ENST00000427076.1 - 0 444 RP5-1165K10.2_ENST00000454572.1_RNA NR_003655.2 polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene NA NA NA gtagagatgtagtctcactat 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 7p13 2008-08-21 ENSG00000214783 ENSG00000214783 84820 28195 pseudogene pseudogene NA NA 15586814 Standard NR_003655 NR_003655 NA Approved MGC13098 uc010kxw.2 OTTHUMG00000155253 ENST00000427076.1: chr7.hg19:g.44033340A>G NA hg19 0.02 -0.114036 TGTxGTC UNCOVERED NOVEL POLR2J4-002 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000473169.1 1 2.407494 KEEP 0 0 0 8 257 AA 0.99257 0.16126 0 - 4 45 133 0 0 11.723827 9 60 305 25 ENST00000427076.1 0.307692 0.162467 ABCA13 154664 __UNKNOWN__ __UNKNOWN__ 7 48237802 48237802 __UNKNOWN__ Intron SNP C C T rs2188 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:48237802C>T ENST00000435803.1 + 3 187 NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGCAGGTATACGGACTCATTT 0.348 NA NA .||| 1772 0.353834 0.1346 0.3401 5008 , , NA 14372 0.4792 NA 0.4583 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA NA 0 C 648,3004 55,538,1233 73 67 69 NA -7.9 0 7 dbSNP_36 69 3999,4145 964,2071,1037 no intron ABCA13 NM_152701.3 1019,2609,2270 TT,TC,CC NA 49.1036,17.7437,39.3947 48237802 4647,7149 1826 4072 5898 SO:0001627 intron_variant AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664 ATP binding cassette transporters / subfamily A 14638 protein-coding gene gene with protein product 607807 NA 12697998 Standard NM_152701 NM_152701 NA Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.164-32C>T chr7.hg19:g.48237802C>T NA K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 hg19 CCDS47584.1 0.02 1.792212 ATAxGGA COVERED NOVEL ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341964.2 0 2.40013 KEEP 0 0 0 8 247 CC 0.99257 0.988289 0 + 9 60 310 0 0 23.755618 59 60 2046 84 ENST00000435803.1 0.132353 0.995687 ABCA13 154664 __UNKNOWN__ __UNKNOWN__ 7 48335322 48335322 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:48335322C>G ENST00000435803.1 + 21 9005 c.8981C>G c.(8980-8982)cCg>cGg p.P2994R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2994 NA transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGGTCCTCGCCGAATCAGCTA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 123 123 123 NA NA NA 7 NA NA 48335322 1874 4107 5981 SO:0001583 missense AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664 ATP binding cassette transporters / subfamily A 14638 protein-coding gene gene with protein product 607807 NA 12697998 Standard NM_152701 NM_152701 NA Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.8981C>G chr7.hg19:g.48335322C>G ENSP00000411096:p.Pro2994Arg NA K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 hg19 CCDS47584.1 0.02 3.402597 CGCxGAA COVERED . . . . . . . . . . C 15.89 2.965910 0.53507 . . ENSG00000179869 ENST00000435803 D 0.88046 -2.33 5.49 5.49 0.81192 . 0.135212 0.34088 N 0.004262 D 0.89546 0.6746 L 0.32530 0.975 0.80722 D 1 D;D 0.89917 0.992;1.0 D;D 0.70716 0.954;0.97 D 0.90541 0.4502 10 0.87932 D 0 . 14.8857 0.70567 0.0:1.0:0.0:0.0 . 696;2994 Q86UQ4-3;Q86UQ4 .;ABCAD_HUMAN R 2994 ENSP00000411096:P2994R ENSP00000411096:P2994R P + 2 0 ABCA13 48305868 0.001000 0.12720 0.107000 0.21349 0.012000 0.07955 1.125000 0.31332 2.569000 0.86673 0.655000 0.94253 CCG NOVEL ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341964.2 0 3.009451 KEEP 0 0 0 10 326 CC 0.992708 0.992708 0 + 5 60 166 0 0 9.72338 129 60 4405 169 ENST00000435803.1 0.037313 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 57624667 57624667 __UNKNOWN__ IGR SNP C C T rs201814359 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:57624667C>T NA NA ZNF716 (91415 upstream) : RP11-368M16.3 (65119 downstream) NA NA NA gagttcaagactagcctgacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.57624667C>T NA hg19 0.02 -0.166691 AGAxTAG COVERED NOVEL 0 4 2.708047 KEEP 1 0 0 9 310 CC 0.99257 0.351317 0 3 49 105 0 0 8.772455 11 50 404 34 0.214286 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61059673 61059673 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61059673C>T NA NA None (None upstream) : None (None downstream) NA NA NA TTCTTCCTTCCTTCTTTCCAT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61059673C>T NA hg19 0.02 -0.105278 TTCxTTC UNCOVERED NOVEL 0 7 2.660455 KEEP 4 0 0 9 259 CC 0 0 0 3 40 111 0 0 10.043508 6 55 212 25 0.333333 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968752 61968752 __UNKNOWN__ IGR SNP G G C rs9720087 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61968752G>C NA NA None (None upstream) : RNU6-417P (503088 downstream) NA NA NA cctttagacagagcagatttg 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61968752G>C NA hg19 0.02 9.71541 ACAxAGC COVERED NOVEL 0 18 19.194631 KEEP 119 1 32 75 2528 GG 1 1 0 14 40 496 0 0 32.240957 262 60 9470 508 0.050725 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968842 61968842 __UNKNOWN__ IGR SNP T T G rs2167866|rs370856322 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61968842T>G NA NA None (None upstream) : RNU6-417P (502998 downstream) NA NA NA tatcttcaaataaaaaccaga 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61968842T>G NA hg19 0.02 30.675688 AAAxAAA COVERED NOVEL 0 56 8.933521 KEEP 129 15 504 206 6089 TT 1 1 0 36 60 1295 0 0 84.769512 682 60 23444 1286 0.050139 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968843 61968843 __UNKNOWN__ IGR SNP A A G rs10156099 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61968843A>G NA NA None (None upstream) : RNU6-417P (502997 downstream) NA NA NA atcttcaaataaaaaccagac 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61968843A>G NA hg19 0.02 29.543079 AATxAAA COVERED NOVEL 0 56 24.91616 KEEP 127 11 369 212 6293 AA 1 1 0 24 60 882 1 0 53.95011 698 60 23665 1289 0.033241 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968844 61968844 __UNKNOWN__ IGR SNP A A C rs2219049 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61968844A>C NA NA None (None upstream) : RNU6-417P (502996 downstream) NA NA NA tcttcaaataaaaaccagaca 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61968844A>C NA hg19 0.02 28.852576 ATAxAAA COVERED NOVEL 0 56 54.938666 KEEP 127 3 101 218 6710 AA 1 1 0 19 60 654 2 0 36.850057 704 60 24730 1297 0.026279 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968868 61968868 __UNKNOWN__ IGR SNP A A C rs2167864 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61968868A>C NA NA None (None upstream) : RNU6-417P (502972 downstream) NA NA NA tcattctcagaaaattctttg 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61968868A>C NA hg19 0.02 32.827691 CAGxAAA COVERED NOVEL 0 59 44.5565 KEEP 84 10 334 265 8080 AA 1 1 0 50 60 1830 0 0 126.257274 729 60 25174 1357 0.064185 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968968 61968968 __UNKNOWN__ IGR SNP A A T rs74187916|rs397894915|rs66812331|rs57915669 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61968968A>T NA NA None (None upstream) : RNU6-417P (502872 downstream) NA NA NA aagtggatatatggaccgcat 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61968968A>T NA hg19 0.02 33.923031 TATxTGG COVERED NOVEL 0 97 16.330784 KEEP 6 24 721 308 9179 AA 1 1 0 30 60 1055 1 0 63.317578 831 60 28230 1443 0.034843 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969243 61969243 __UNKNOWN__ IGR SNP G G C rs2219043 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61969243G>C NA NA None (None upstream) : RNU6-417P (502597 downstream) NA NA NA aactcacagagtttaaccttt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61969243G>C NA hg19 0.02 35.475995 AGAxTTT COVERED NOVEL 0 66 52.704451 KEEP 21 13 416 321 11117 GG 1 1 0 22 60 794 1 0 45.940619 798 60 28904 1449 0.026829 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969291 61969291 __UNKNOWN__ IGR SNP T T C rs9654817|rs74213713 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61969291T>C NA NA None (None upstream) : RNU6-417P (502549 downstream) NA NA NA ctgcttgttatgtctgcaagt 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61969291T>C NA hg19 0.02 33.005481 TTAxGTC COVERED NOVEL 0 66 55.759538 KEEP 10 9 302 291 8868 TT 1 1 0 33 60 1109 0 0 67.68687 729 60 25302 1407 0.043307 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969454 61969454 __UNKNOWN__ IGR SNP T T C rs71267899|rs4308611 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61969454T>C NA NA None (None upstream) : RNU6-417P (502386 downstream) NA NA NA gaaacactcttgctgtggcat 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61969454T>C NA hg19 0.02 32.11997 TCTxGCT COVERED NOVEL 0 68 58.062969 KEEP 11 6 194 261 7831 TT 1 1 0 27 60 834 0 0 44.100527 848 60 29388 1342 0.030857 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969462 61969462 __UNKNOWN__ IGR SNP C C A rs71267899|rs4308612|rs71280882 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61969462C>A NA NA None (None upstream) : RNU6-417P (502378 downstream) NA NA NA cttgctgtggcattttcaggt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61969462C>A NA hg19 0.02 35.184031 TGGxATT COVERED NOVEL 0 67 26.947953 KEEP 5 14 431 241 8278 CC 1 1 0 36 49 1215 0 0 73.485543 844 60 30296 1333 0.040909 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969572 61969572 __UNKNOWN__ IGR SNP T T C rs71296928|rs4295544 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61969572T>C NA NA None (None upstream) : RNU6-417P (502268 downstream) NA NA NA gatgtgtgcgttcaactcaca 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61969572T>C NA hg19 0.02 29.792262 GCGxTCA COVERED NOVEL 0 48 27.176329 KEEP 62 9 302 196 6074 TT 1 1 0 22 60 803 0 0 48.725727 652 60 22640 1162 0.032641 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969642 61969642 __UNKNOWN__ IGR SNP G G T rs3919784|rs71271567|rs67619083 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61969642G>T NA NA None (None upstream) : RNU6-417P (502198 downstream) NA NA NA aagtctgcaagtggaaatatg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61969642G>T NA hg19 0.02 18.752711 CAAxTGG COVERED NOVEL 0 14 3.774584 KEEP 84 6 189 79 2661 GG 1 1 0 61 40 2067 0 0 161.732247 338 60 12040 687 0.152882 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970263 61970263 __UNKNOWN__ IGR SNP G G A rs4318940 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970263G>A NA NA None (None upstream) : RNU6-417P (501577 downstream) NA NA NA tcaactcacagagtttaacct 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970263G>A NA hg19 0.02 11.035608 ACAxAGT COVERED NOVEL 0 13 12.729697 KEEP 73 3 90 74 2501 GG 1 1 0 9 49 312 1 0 18.019521 286 50 10380 528 0.030508 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970291 61970291 __UNKNOWN__ IGR SNP T T C rs4717990 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970291T>C NA NA None (None upstream) : RNU6-417P (501549 downstream) NA NA NA catagaggagtttggaaacac 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970291T>C NA hg19 0.02 21.39538 GAGxTTG COVERED NOVEL 0 21 18.345964 KEEP 91 4 111 100 2883 TT 1 1 0 16 60 515 0 0 29.774005 463 60 15124 845 0.033403 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970349 61970349 __UNKNOWN__ IGR SNP T T C rs4320428 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970349T>C NA NA None (None upstream) : RNU6-417P (501491 downstream) NA NA NA tttgaggccttcgttggaaac 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970349T>C NA hg19 0.02 32.771059 CCTxCGT COVERED NOVEL 0 63 44.033417 KEEP 77 6 178 209 6313 TT 1 1 0 64 60 2289 1 0 166.084207 646 60 22289 1292 0.090141 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970384 61970384 __UNKNOWN__ IGR SNP C C G rs4302714 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970384C>G NA NA None (None upstream) : RNU6-417P (501456 downstream) NA NA NA gaatgctagacggaagaattc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970384C>G NA hg19 0.02 33.284412 AGAxGGA COVERED NOVEL 0 85 49.061091 KEEP 39 7 249 250 8201 CC 1 1 0 22 60 766 0 0 43.819962 768 60 26123 1329 0.027848 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970421 61970421 __UNKNOWN__ IGR SNP T T C rs2167821 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970421T>C NA NA None (None upstream) : RNU6-417P (501419 downstream) NA NA NA gttgtgtgcattcaactcaca 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970421T>C NA hg19 0.02 29.722622 GCAxTCA COVERED NOVEL 0 75 50.992991 KEEP 78 4 139 218 6866 TT 1 1 0 18 60 656 0 0 38.070636 671 60 23469 1217 0.026125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970423 61970423 __UNKNOWN__ IGR SNP C C G rs4302715 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970423C>G NA NA None (None upstream) : RNU6-417P (501417 downstream) NA NA NA tgtgtgcattcaactcacaga 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970423C>G NA hg19 0.02 27.059809 ATTxAAC COVERED NOVEL 0 72 64.070158 KEEP 79 0 0 213 7280 CC 1 1 0 22 60 751 0 0 43.965559 653 60 23847 1196 0.032593 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970454 61970454 __UNKNOWN__ IGR SNP G G C rs4316045 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970454G>C NA NA None (None upstream) : RNU6-417P (501386 downstream) NA NA NA cctttagacagagcagatttg 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970454G>C NA hg19 0.02 28.008104 ACAxAGC COVERED NOVEL 0 47 39.790206 KEEP 137 2 68 156 5319 GG 1 1 0 22 60 772 0 0 46.837143 608 60 22254 1122 0.034921 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970544 61970544 __UNKNOWN__ IGR SNP T T G rs4476887 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970544T>G NA NA None (None upstream) : RNU6-417P (501296 downstream) NA NA NA tatcttcaaataaaaaccaga 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970544T>G NA hg19 0.02 7.939505 AAAxAAA COVERED NOVEL 0 24 5.586672 KEEP 146 3 107 56 1681 TT 0.993072 0.993072 0 7 40 247 0 0 14.90441 191 49 6248 410 0.035354 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970545 61970545 __UNKNOWN__ IGR SNP A A G rs4294074 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970545A>G NA NA None (None upstream) : RNU6-417P (501295 downstream) NA NA NA atcttcaaataaaaaccagac 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970545A>G NA hg19 0.02 8.289428 AATxAAA COVERED NOVEL 0 24 10.594566 KEEP 145 2 65 58 1672 AA 0.993072 0.993072 0 7 40 253 0 0 15.594843 185 49 6314 402 0.036458 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970546 61970546 __UNKNOWN__ IGR SNP A A C rs4294075 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:61970546A>C NA NA None (None upstream) : RNU6-417P (501294 downstream) NA NA NA tcttcaaataaaaaccagaca 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.61970546A>C NA hg19 0.02 5.918733 ATAxAAA COVERED NOVEL 0 24 18.049187 KEEP 144 0 0 60 1778 AA 0.993072 0.993072 0 6 40 222 0 0 13.500637 184 49 6260 396 0.031579 1 ZNF736 728927 __UNKNOWN__ __UNKNOWN__ 7 63808861 63808861 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:63808861G>A ENST00000423484.2 + 4 742 c.620G>A c.(619-621)gGc>gAc p.G207D ZNF736_ENST00000355095.4_Missense_Mutation_p.G207D B4DX44 ZN736_HUMAN zinc finger protein 736 207 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(6)|stomach(1)|urinary_tract(1) 9 GAAGAATGTGGCAAAGCGTTT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 20 20 NA NA NA 7 NA NA 63808861 691 1590 2281 SO:0001583 missense CCDS55114.1 7q11.21 2013-01-08 ENSG00000234444 ENSG00000234444 728927 Zinc fingers, C2H2-type, - 32467 protein-coding gene gene with protein product NA NA Standard NM_001170905 XM_006716104 NA Approved uc011kdo.2 B4DX44 OTTHUMG00000156537 ENST00000423484.2:c.620G>A chr7.hg19:g.63808861G>A ENSP00000400852:p.Gly207Asp NA hg19 CCDS55114.1 0.02 8.100785 GTGxCAA COVERED . . . . . . . . . . G 14.73 2.622380 0.46840 . . ENSG00000234444 ENST00000355095;ENST00000423484 T;T 0.01430 4.9;4.9 1.15 1.15 0.20763 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.04318 0.0119 L 0.56769 1.78 0.25477 N 0.987777 D 0.89917 1.0 D 0.68483 0.958 T 0.40701 -0.9549 9 0.54805 T 0.06 . 3.5067 0.07693 0.2868:0.0:0.7132:0.0 . 207 B4DX44 ZN736_HUMAN D 207 ENSP00000347210:G207D;ENSP00000400852:G207D ENSP00000347210:G207D G + 2 0 ZNF736 63446296 0.962000 0.33011 0.083000 0.20561 0.359000 0.29487 1.285000 0.33261 0.555000 0.29079 0.305000 0.20034 GGC NOVEL ZNF736-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000344559.2 2 4.513461 KEEP 0 0 0 15 501 GG 0.99649 0.99649 0 + 66 60 2235 0 0 194.55659 168 60 5880 278 ENST00000423484.2 0.282051 1 CCT6P1 643253 __UNKNOWN__ __UNKNOWN__ 7 65228273 65228273 __UNKNOWN__ RNA SNP G G A rs372024277 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:65228273G>A ENST00000442266.1 + 0 1247 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1 NA NA NA TTCAGCACTGGTTGCCACCAA 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC052238, BC073761 7q11.21 2010-06-29 2008-09-22 2008-09-22 ENSG00000228409 ENSG00000228409 643253 33094 pseudogene pseudogene NA chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1 CCT6AP1 NA Standard NR_003110 NR_003110 NA Approved uc003tug.3 OTTHUMG00000156733 ENST00000442266.1: chr7.hg19:g.65228273G>A NA hg19 0.02 16.041318 CTGxTTG COVERED NOVEL CCT6P1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000345507.1 1 2.685687 KEEP 1 3 91 41 1369 GG 1 1 0 + 58 44 1972 0 0 151.998472 358 60 12457 543 ENST00000442266.1 0.139423 1 CALN1 83698 __UNKNOWN__ __UNKNOWN__ 7 71743695 71743695 __UNKNOWN__ Missense_Mutation SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:71743695T>G ENST00000329008.5 - 2 392 c.94A>C c.(94-96)Aat>Cat p.N32H CALN1_ENST00000405452.2_Missense_Mutation_p.N32H|CALN1_ENST00000395275.2_Missense_Mutation_p.N74H|CALN1_ENST00000412588.1_Missense_Mutation_p.N74H|CALN1_ENST00000431984.1_Missense_Mutation_p.N32H|CALN1_ENST00000395276.2_Missense_Mutation_p.N32H NM_001017440.2 NP_001017440.1 Q9BXU9 CABP8_HUMAN calneuron 1 32 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588) calcium ion binding (GO:0005509) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ACGGAGATATTAGCCAGCTGT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 74 59 64 NA NA NA 7 NA NA 71743695 2203 4300 6503 SO:0001583 missense AF282250 CCDS5541.1, CCDS47603.1 7q11 2013-01-10 ENSG00000183166 ENSG00000183166 83698 EF-hand domain containing 13248 protein-coding gene gene with protein product calcium-binding protein CABP8 607176 NA 11286509 Standard NM_031468 NM_031468 NA Approved uc003twb.4 Q9BXU9 OTTHUMG00000023787 ENST00000329008.5:c.94A>C chr7.hg19:g.71743695T>G ENSP00000332498:p.Asn32His NA J3KQA7 hg19 CCDS5541.1 0.02 21.084192 TATxAGC COVERED . . . . . . . . . . T 18.38 3.611728 0.66558 . . ENSG00000183166 ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128 T;T;T;T;T;T;T 0.74632 -0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.86 5.94 5.94 0.96194 . 0.046650 0.85682 D 0.000000 T 0.64305 0.2586 N 0.14661 0.345 0.43160 D 0.994948 B;B 0.33448 0.412;0.412 B;B 0.37833 0.259;0.259 T 0.68720 -0.5334 10 0.66056 D 0.02 -38.9993 15.5763 0.76392 0.0:0.0:0.0:1.0 . 32;32 A4D1Z1;Q9BXU9 .;CABP8_HUMAN H 32;74;32;32;74;32;32 ENSP00000332498:N32H;ENSP00000378690:N74H;ENSP00000378691:N32H;ENSP00000410704:N32H;ENSP00000391882:N74H;ENSP00000384354:N32H;ENSP00000411806:N32H ENSP00000332498:N32H N - 1 0 CALN1 71381631 1.000000 0.71417 0.996000 0.52242 0.897000 0.52465 7.622000 0.83099 2.272000 0.75746 0.460000 0.39030 AAT NOVEL CALN1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320044.2 4 12.916636 KEEP 0 0 0 43 1194 TT 1 1 0 - 138 60 4891 0 0 432.006429 328 60 11094 599 ENST00000329008.5 0.296137 1 POM121 9883 __UNKNOWN__ __UNKNOWN__ 7 72361217 72361217 __UNKNOWN__ 5'UTR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:72361217T>C ENST00000395270.1 + 0 573 POM121_ENST00000446813.1_5'UTR|POM121_ENST00000257622.4_5'UTR NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GGAGGAGTGGTGGCAACTGGA 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB014518 CCDS5542.1, CCDS59059.1 7q11.23 2013-01-08 2012-03-13 ENSG00000196313 ENSG00000196313 9883 - 19702 protein-coding gene gene with protein product 615753 POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein NA 8335683, 9734811, 17900573 Standard NM_172020 NA Approved KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A uc003twk.2 Q96HA1 OTTHUMG00000023527 ENST00000395270.1:c.-469T>C chr7.hg19:g.72361217T>C NA A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7 hg19 CCDS59059.1 0.02 5.347046 TGGxGGC COVERED NOVEL POM121-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000252020.1 0 4.748769 KEEP 10 1 35 28 864 TT 0.999997 0.999997 0 + 10 25 294 0 0 17.942037 151 60 5108 259 ENST00000395270.1 0.062112 1 POM121 9883 __UNKNOWN__ __UNKNOWN__ 7 72417363 72417363 __UNKNOWN__ 3'UTR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:72417363A>C ENST00000358357.3 + 0 3845 POM121_ENST00000446813.1_Intron|POM121_ENST00000395270.1_Intron|POM121_ENST00000257622.4_3'UTR NM_172020.3 NP_742017.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TGCCTTGGAGACCCCAGTGGG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014518 CCDS5542.1, CCDS59059.1 7q11.23 2013-01-08 2012-03-13 ENSG00000196313 ENSG00000196313 9883 - 19702 protein-coding gene gene with protein product 615753 POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein NA 8335683, 9734811, 17900573 Standard NM_172020 NA Approved KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A uc003twk.2 Q96HA1 OTTHUMG00000023527 ENST00000358357.3:c.*590A>C chr7.hg19:g.72417363A>C NA A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7 hg19 CCDS5542.1 0.02 0.616003 GAGxCCC UNCOVERED NOVEL POM121-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000252021.1 0 3.18534 KEEP 118 2 14 16 484 AA 0 0 0 + 24 40 218 0 0 11.448436 57 48 1354 258 ENST00000358357.3 0.296296 0.999407 POM121 9883 __UNKNOWN__ __UNKNOWN__ 7 72419464 72419464 __UNKNOWN__ 3'UTR SNP T T G rs138398938 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:72419464T>G ENST00000395270.1 + 0 4496 NSUN5P2_ENST00000388955.4_RNA NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) p.Q163P(1) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CAGCGCATCTTGTACCATGTC 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) prostate(1) 41 46 44 NA NA NA 7 NA NA 72419464 2202 4300 6502 SO:0001624 3_prime_UTR_variant AB014518 CCDS5542.1, CCDS59059.1 7q11.23 2013-01-08 2012-03-13 ENSG00000196313 ENSG00000196313 9883 - 19702 protein-coding gene gene with protein product 615753 POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein NA 8335683, 9734811, 17900573 Standard NM_172020 NA Approved KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A uc003twk.2 Q96HA1 OTTHUMG00000023527 ENST00000395270.1:c.*455T>G chr7.hg19:g.72419464T>G NA A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7 hg19 CCDS59059.1 0.02 15.847308 TCTxGTA COVERED NOVEL POM121-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000252020.1 5 12.145405 KEEP 2 4 121 83 2424 TT 1 1 0 + 16 39 552 0 0 33.577545 390 60 13256 610 ENST00000395270.1 0.039409 1 NCF1B 654816 __UNKNOWN__ __UNKNOWN__ 7 72639937 72639937 __UNKNOWN__ RNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:72639937C>T ENST00000423083.1 + 0 158 NR_003186.1 A6NI72 NCF1B_HUMAN neutrophil cytosolic factor 1B pseudogene NA NA cytoplasm (GO:0005737) phosphatidylinositol binding (GO:0035091)|superoxide-generating NADPH oxidase activity (GO:0016175) NA AGTGGTTTGACGGGCAGCGGG 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 7q11.23 2014-03-20 2006-09-19 ENSG00000182487 ENSG00000182487 654816 32522 pseudogene pseudogene NA neutrophil cytosolic factor 1B NA Standard NR_003186 NR_003186 NA Approved SH3PXD1B uc011ker.1 A6NI72 OTTHUMG00000156804 ENST00000423083.1: chr7.hg19:g.72639937C>T NA hg19 0.02 1.654841 TGAxGGG COVERED NOVEL NCF1B-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000345924.1 0 6.620792 KEEP 18 0 0 22 741 CC 0.999869 0.999788 0 + 25 47 856 0 0 73.750436 70 48 2482 164 ENST00000423083.1 0.263158 0.999919 HIP1 3092 __UNKNOWN__ __UNKNOWN__ 7 75192629 75192629 __UNKNOWN__ Intron SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:75192629G>C ENST00000434438.2 - 10 824 HIP1_ENST00000336926.6_Intron NM_001243198.1 NP_001230127.1 O00291 HIP1_HUMAN huntingtin interacting protein 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GTAGGGGACAGAGCAGCCACC 0.562 NA NA T PDGFRB CMML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 7 7q11.23 3092 huntingtin interacting protein 1 L 0 27 27 27 NA NA NA 7 NA NA 75192629 692 1591 2283 SO:0001627 intron_variant AF052288 CCDS34669.1, CCDS59060.1 7q11.23 2008-07-18 ENSG00000127946 ENSG00000127946 3092 4913 protein-coding gene gene with protein product 601767 NA 9140394, 9147654 Standard NM_005338 NM_005338 NA Approved ILWEQ uc003uds.2 O00291 OTTHUMG00000156050 ENST00000434438.2:c.804-62C>G chr7.hg19:g.75192629G>C NA B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4 hg19 CCDS59060.1 0.02 2.147186 ACAxAGC COVERED NOVEL HIP1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342864.2 0 3.009271 KEEP 0 0 0 10 332 GG 0.992708 0.990621 0 - 17 60 613 0 0 52.206023 56 60 1988 95 ENST00000434438.2 0.232877 0.997898 ZP3 7784 __UNKNOWN__ __UNKNOWN__ 7 76069481 76069481 __UNKNOWN__ Intron SNP G G A rs77258242 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:76069481G>A ENST00000394857.3 + 6 889 ZP3_ENST00000416245.1_Intron|ZP3_ENST00000336517.4_Intron|ZP3_ENST00000467555.1_Intron NM_001110354.1 NP_001103824.1 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) NA NA binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141) acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279) endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 ACTCTTTAAAGGGTTGAGGGT 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M60504 CCDS5586.1, CCDS47618.1 7q11.23 2014-07-04 2002-09-17 2002-09-20 ENSG00000188372 ENSG00000188372 7784 Zona pellucida glycoproteins 13189 protein-coding gene gene with protein product 182889 zona pellucida glycoprotein 3A (sperm receptor) ZP3A, ZP3B NA 1478648 Standard NM_007155 NA Approved ZP3-424, ZP3-372, ZPC uc003ufd.4 P21754 OTTHUMG00000130575 ENST00000394857.3:c.832-86G>A chr7.hg19:g.76069481G>A NA Q06633|Q29RW0 hg19 CCDS47618.1 0.02 1.736689 AAAxGGT UNCOVERED NOVEL ZP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253004.1 3 2.407606 KEEP 8 0 0 8 270 GG 0 0 0 + 7 40 236 0 0 17.400387 56 60 1963 91 ENST00000394857.3 0.111111 0.992094 ZP3 7784 __UNKNOWN__ __UNKNOWN__ 7 76069902 76069902 __UNKNOWN__ Missense_Mutation SNP G G C rs1804905 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:76069902G>C ENST00000394857.3 + 7 1092 c.1034G>C c.(1033-1035)aGg>aCg p.R345T ZP3_ENST00000416245.1_Missense_Mutation_p.R169T|ZP3_ENST00000336517.4_Missense_Mutation_p.R294T|ZP3_ENST00000467555.1_3'UTR NM_001110354.1 NP_001103824.1 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 345 NA R -> T (in Ref. 2; CAA40095). {ECO:0000305}. binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141) acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279) endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 CAGTGGTCCAGGTCTGCTTCC 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 135 127 130 NA NA NA 7 NA NA 76069902 2203 4300 6503 SO:0001583 missense M60504 CCDS5586.1, CCDS47618.1 7q11.23 2014-07-04 2002-09-17 2002-09-20 ENSG00000188372 ENSG00000188372 7784 Zona pellucida glycoproteins 13189 protein-coding gene gene with protein product 182889 zona pellucida glycoprotein 3A (sperm receptor) ZP3A, ZP3B NA 1478648 Standard NM_007155 NA Approved ZP3-424, ZP3-372, ZPC uc003ufd.4 P21754 OTTHUMG00000130575 ENST00000394857.3:c.1034G>C chr7.hg19:g.76069902G>C ENSP00000378326:p.Arg345Thr NA Q06633|Q29RW0 hg19 CCDS47618.1 0.02 12.621252 CCAxGTC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 8.608|8.608 0.888351|0.888351 0.17540|0.17540 .|. .|. ENSG00000188372|ENSG00000188372 ENST00000394860|ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245 .|T;T;T .|0.25250 .|2.41;2.63;1.81 4.64|4.64 -8.56|-8.56 0.00904|0.00904 .|. .|0.754812 .|0.12103 .|U .|0.499355 T|T 0.12518|0.12518 0.0304|0.0304 L|L 0.28115|0.28115 0.83|0.83 0.09310|0.09310 N|N 1|1 .|B;B .|0.19817 .|0.002;0.039 .|B;B .|0.17722 .|0.004;0.019 T|T 0.33292|0.33292 -0.9874|-0.9874 5|10 .|0.13108 .|T .|0.6 -0.2921|-0.2921 12.2107|12.2107 0.54377|0.54377 0.1994:0.1279:0.6727:0.0|0.1994:0.1279:0.6727:0.0 rs1804905|rs1804905 .|294;345 .|P21754-3;P21754 .|.;ZP3_HUMAN R|T 179|294;345;345;169 .|ENSP00000337310:R294T;ENSP00000378326:R345T;ENSP00000411955:R169T .|ENSP00000337310:R294T G|R +|+ 1|2 0|0 ZP3|ZP3 75907838|75907838 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.001000|0.001000 0.01503|0.01503 -0.592000|-0.592000 0.05747|0.05747 -1.616000|-1.616000 0.01572|0.01572 -0.291000|-0.291000 0.09656|0.09656 GGT|AGG NOVEL ZP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253004.1 1 6.29082 KEEP 1 2 66 44 1528 GG 1 1 0 + 12 40 400 0 0 22.521443 375 60 13457 523 ENST00000394857.3 0.031008 1 ZP3 7784 __UNKNOWN__ __UNKNOWN__ 7 76069937 76069937 __UNKNOWN__ Intron SNP C C T rs2906996 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:76069937C>T ENST00000394857.3 + 7 1118 ZP3_ENST00000416245.1_Intron|ZP3_ENST00000336517.4_Intron|ZP3_ENST00000467555.1_Intron NM_001110354.1 NP_001103824.1 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) NA NA binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141) acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279) endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 TGGTATGTCACAGAATGGCCA 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 100 91 94 NA NA NA 7 NA NA 76069937 2203 4300 6503 SO:0001627 intron_variant M60504 CCDS5586.1, CCDS47618.1 7q11.23 2014-07-04 2002-09-17 2002-09-20 ENSG00000188372 ENSG00000188372 7784 Zona pellucida glycoproteins 13189 protein-coding gene gene with protein product 182889 zona pellucida glycoprotein 3A (sperm receptor) ZP3A, ZP3B NA 1478648 Standard NM_007155 NA Approved ZP3-424, ZP3-372, ZPC uc003ufd.4 P21754 OTTHUMG00000130575 ENST00000394857.3:c.1060+9C>T chr7.hg19:g.76069937C>T NA Q06633|Q29RW0 hg19 CCDS47618.1 0.02 10.807366 TCAxAGA COVERED NOVEL ZP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253004.1 0 2.209741 KEEP 5 3 90 39 1347 CC 1 1 0 + 18 40 610 1 0 38.938536 326 60 11890 476 ENST00000394857.3 0.052326 1 UPK3B 80761 __UNKNOWN__ __UNKNOWN__ 7 76631451 76631451 __UNKNOWN__ Intron SNP G G A rs28660402 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:76631451G>A ENST00000443097.2 + 8 1323 UPK3B_ENST00000419923.2_Intron|DTX2P1-UPK3BP1-PMS2P11_ENST00000584900.1_RNA Q9BT76 UPK3B_HUMAN uroplakin 3B NA NA negative regulation of gene expression (GO:0010629) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2) 8 Myeloproliferative disorder(862;0.204) CACTGTTGGCGAGCATGACCC 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004304 CCDS5588.1, CCDS5589.1, CCDS64693.1 7q11.2 2003-07-29 ENSG00000243566 ENSG00000243566 80761 21444 protein-coding gene gene with protein product uroplakin IIIb 611887 NA 12446744 Standard NM_030570 XM_005250612 NA Approved MGC10902, p35, UPIIIb, FLJ32198 uc003ufq.3 Q9BT76 OTTHUMG00000149929 ENST00000443097.2:c.829-16690G>A chr7.hg19:g.76631451G>A NA A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06 hg19 CCDS5589.1 0.02 -0.38592 GGCxAGC COVERED NOVEL UPK3B-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 2.407086 KEEP 0 0 0 8 244 GG 0.99257 0.911349 0 + 4 49 135 0 0 9.589715 40 60 1243 55 ENST00000443097.2 0.090909 0.918171 UPK3B 80761 __UNKNOWN__ __UNKNOWN__ 7 76631515 76631515 __UNKNOWN__ Intron SNP G G A rs61737189 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:76631515G>A ENST00000443097.2 + 8 1323 UPK3B_ENST00000419923.2_Intron|DTX2P1-UPK3BP1-PMS2P11_ENST00000584900.1_RNA Q9BT76 UPK3B_HUMAN uroplakin 3B NA NA negative regulation of gene expression (GO:0010629) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) p.A7A(1) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2) 8 Myeloproliferative disorder(862;0.204) TGTCCGCAGCGTCTGGATACA 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) endometrium(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004304 CCDS5588.1, CCDS5589.1, CCDS64693.1 7q11.2 2003-07-29 ENSG00000243566 ENSG00000243566 80761 21444 protein-coding gene gene with protein product uroplakin IIIb 611887 NA 12446744 Standard NM_030570 XM_005250612 NA Approved MGC10902, p35, UPIIIb, FLJ32198 uc003ufq.3 Q9BT76 OTTHUMG00000149929 ENST00000443097.2:c.829-16626G>A chr7.hg19:g.76631515G>A NA A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06 hg19 CCDS5589.1 0.02 1.724702 AGCxTCT COVERED NOVEL UPK3B-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 4.814762 KEEP 2 0 0 16 519 GG 0.99649 0.99519 0 + 6 49 211 0 0 14.861241 70 60 2243 121 ENST00000443097.2 0.078947 0.998696 CCDC146 57639 __UNKNOWN__ __UNKNOWN__ 7 76796928 76796928 __UNKNOWN__ Intron SNP A A G rs28502738 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:76796928A>G ENST00000285871.4 + 2 116 RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 NA NA breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) TTACTTTATAAGTGAAGACAC 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029458 CCDS34671.1 7q11.23 2011-09-07 ENSG00000135205 ENSG00000135205 57639 29296 protein-coding gene gene with protein product NA NA 10819331 Standard NM_020879 NM_020879 NA Approved KIAA1505 uc003uga.3 Q8IYE0 OTTHUMG00000162595 ENST00000285871.4:c.-11-47A>G chr7.hg19:g.76796928A>G NA A8K8X6|Q9P223 hg19 CCDS34671.1 0.02 12.530362 ATAxGTG COVERED NOVEL CCDC146-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341449.1 4 12.035788 KEEP 1 0 0 40 1272 AA 1 1 0 + 18 40 653 0 0 43.884778 299 60 10299 379 ENST00000285871.4 0.056782 1 CCDC146 57639 __UNKNOWN__ __UNKNOWN__ 7 76870935 76870935 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:76870935A>C ENST00000285871.4 + 4 366 CCDC146_ENST00000431197.1_Intron NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 NA NA breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AGCTATCCTCACTAGACCCCC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029458 CCDS34671.1 7q11.23 2011-09-07 ENSG00000135205 ENSG00000135205 57639 29296 protein-coding gene gene with protein product NA NA 10819331 Standard NM_020879 NM_020879 NA Approved KIAA1505 uc003uga.3 Q8IYE0 OTTHUMG00000162595 ENST00000285871.4:c.240-73A>C chr7.hg19:g.76870935A>C NA A8K8X6|Q9P223 hg19 CCDS34671.1 0.02 6.745858 CTCxCTA COVERED NOVEL CCDC146-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341449.1 1 5.415074 KEEP 0 0 0 18 530 AA 0.999859 0.999859 0 + 58 60 2023 0 0 182.036079 115 60 4004 212 ENST00000285871.4 0.33526 1 CACNA2D1 781 __UNKNOWN__ __UNKNOWN__ 7 81624289 81624289 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:81624289A>G ENST00000356860.3 - 20 2001 CACNA2D1_ENST00000356253.5_Intron NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 NA NA calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924) extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421) TTTATTCCAGAAACAAAGCTG 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 47 46 47 NA NA NA 7 NA NA 81624289 2201 4285 6486 SO:0001627 intron_variant M76559 CCDS5598.1 7q21-q22 2014-09-17 ENSG00000153956 ENSG00000153956 781 Calcium channel subunits 1399 protein-coding gene gene with protein product 114204 long intergenic non-protein coding RNA 1112 CACNL2A, CACNA2, MHS3, LINC01112 NA 8188232 Standard XM_005250570 NA Approved lncRNA-N3 uc003uhr.1 P54289 OTTHUMG00000023622 ENST00000356860.3:c.1663-34T>C chr7.hg19:g.81624289A>G NA Q17R45|Q9UD80|Q9UD81|Q9UD82 hg19 CCDS5598.1 0.02 4.244367 CAGxAAC COVERED NOVEL CACNA2D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253340.4 0 5.400518 KEEP 0 0 0 18 536 AA 0.999859 0.999859 0 - 35 60 1257 0 0 109.660895 94 60 3260 187 ENST00000356860.3 0.271318 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 91209714 91209714 __UNKNOWN__ IGR SNP A A G rs2430442 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:91209714A>G NA NA RP11-142A5.1 (23551 upstream) : CTB-111F10.1 (58447 downstream) NA NA NA gattacaggcatgagccaccg 0.498 NA NA G||| 3456 0.690096 0.941 0.4856 5008 , , NA 14671 0.8383 NA 0.4125 False NA ,,, NA NA NA 2504 0.6288 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.91209714A>G NA hg19 0.02 -0.035091 GGCxTGA UNCOVERED NOVEL 0 3 3.008727 KEEP 6 0 0 10 303 AA 0 0 0 2 60 70 0 0 6.749938 2 60 71 20 0.5 0.019982 ZKSCAN1 7586 __UNKNOWN__ __UNKNOWN__ 7 99625736 99625736 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:99625736G>T ENST00000324306.6 + 4 814 ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Intron NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) ccagcactttgggaggctgag 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X52349 CCDS34698.1, CCDS69349.1, CCDS75640.1 7q22 2013-01-09 2004-11-16 2004-11-17 ENSG00000106261 ENSG00000106261 7586 Zinc fingers, C2H2-type, -, -, - 13101 protein-coding gene gene with protein product 601260 zinc finger protein 36 (KOX 18) ZNF139, ZNF36 NA Standard NM_003439 NM_001287055 NA Approved KOX18, PHZ-37, ZSCAN33 uc003usk.1 P17029 OTTHUMG00000156534 ENST00000324306.6:c.581-1748G>T chr7.hg19:g.99625736G>T NA A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7 hg19 CCDS34698.1 0.02 -0.043744 TTTxGGA UNCOVERED NOVEL ZKSCAN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344550.2 4 2.708936 KEEP 1 0 0 9 325 GG 0.99257 0.023895 0 + 2 60 74 0 0 6.896767 3 60 85 19 ENST00000324306.6 0.4 0.024074 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 100032738 100032738 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100032738T>G NA NA MEPCE (997 upstream) : RP11-758P17.2 (141 downstream) NA NA NA AACGGAGGGGTATCTAAGTAA 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.100032738T>G NA hg19 0.02 -0.381922 GGGxATC COVERED NOVEL 0 1 3.242596 KEEP 0 0 0 11 256 TT 0.993072 0.928018 0 12 60 131 0 0 7.460308 33 60 874 63 0.266667 0.934492 MUC12 10071 __UNKNOWN__ __UNKNOWN__ 7 100643832 100643832 __UNKNOWN__ Missense_Mutation SNP C C G rs57050353 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100643832C>G ENST00000379442.3 + 5 10417 c.10417C>G c.(10417-10419)Cac>Gac p.H3473D MUC12_ENST00000536621.1_Missense_Mutation_p.H3330D Q9UKN1 MUC12_HUMAN mucin 12, cell surface associated 3473 28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich. NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558) Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887) breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13) 25 TACGACCTACCACAGCAGCCC 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 5 4 NA NA NA 7 NA NA 100643832 610 1476 2086 SO:0001583 missense AF147790, AF147791 CCDS55139.1 7q22 2007-01-17 2006-03-14 ENSG00000205277 ENSG00000205277 10071 Mucins 7510 protein-coding gene gene with protein product 604609 mucin 11 MUC11 NA 10463611 Standard XM_379904 NM_001164462 NA Approved uc003uxo.3 Q9UKN1 OTTHUMG00000157042 ENST00000379442.3:c.10417C>G chr7.hg19:g.100643832C>G ENSP00000368755:p.His3473Asp NA A6ND38|F5GWV9|Q9UKN0 hg19 0.02 10.668872 TACxACA COVERED . . . . . . . . . . c 0.278 -0.988338 0.02162 . . ENSG00000205277 ENST00000379442;ENST00000536621 T;T 0.11930 2.73;2.73 0.109 0.109 0.14578 . . . . . T 0.06371 0.0164 N 0.08118 0 0.09310 N 1 . . . . . . T 0.40997 -0.9533 6 0.32370 T 0.25 . . . . . . . . D 3473;3330 ENSP00000368755:H3473D;ENSP00000441929:H3330D ENSP00000368755:H3473D H + 1 0 MUC12 100430552 0.000000 0.05858 0.015000 0.15790 0.015000 0.08874 0.085000 0.14912 0.181000 0.19994 0.184000 0.17185 CAC NOVEL MUC12-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000347234.1 4 4.950914 KEEP 149 1 33 28 946 CC 0.999879 0.999879 0 + 10 40 364 0 0 22.808599 248 45 8850 499 ENST00000379442.3 0.03876 1 MUC12 10071 __UNKNOWN__ __UNKNOWN__ 7 100645834 100645834 __UNKNOWN__ Missense_Mutation SNP A A G rs144528934 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100645834A>G ENST00000379442.3 + 5 12419 c.12419A>G c.(12418-12420)cAc>cGc p.H4140R MUC12_ENST00000536621.1_Missense_Mutation_p.H3997R Q9UKN1 MUC12_HUMAN mucin 12, cell surface associated 4140 28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich. NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558) Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887) breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13) 25 ACAACTTCCCACAGCAGCCAA 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 A ARG/HIS 6,1378 0,6,686 656 587 608 NA 11990 -1 0 7 dbSNP_134 608 1,3181 0,1,1590 no missense MUC12 NM_001164462.1 29 0,7,2276 GG,GA,AA NA 0.0314,0.4335,0.1533 3997/5336 100645834 7,4559 692 1591 2283 SO:0001583 missense AF147790, AF147791 CCDS55139.1 7q22 2007-01-17 2006-03-14 ENSG00000205277 ENSG00000205277 10071 Mucins 7510 protein-coding gene gene with protein product 604609 mucin 11 MUC11 NA 10463611 Standard XM_379904 NM_001164462 NA Approved uc003uxo.3 Q9UKN1 OTTHUMG00000157042 ENST00000379442.3:c.12419A>G chr7.hg19:g.100645834A>G ENSP00000368755:p.His4140Arg NA A6ND38|F5GWV9|Q9UKN0 hg19 0.02 5.754356 CCCxCAG COVERED . . . . . . . . . . - 0.565 -0.843647 0.02671 0.004335 3.14E-4 ENSG00000205277 ENST00000379442;ENST00000536621 T;T 0.11821 2.74;2.74 0.49 -0.979 0.10276 . . . . . T 0.04407 0.0121 N 0.08118 0 0.09310 N 1 . . . . . . T 0.41016 -0.9532 7 0.15499 T 0.54 . 1.4885 0.02452 0.3455:0.3261:0.0:0.3284 . . . . R 4140;3997 ENSP00000368755:H4140R;ENSP00000441929:H3997R ENSP00000368755:H4140R H + 2 0 MUC12 100432554 0.001000 0.12720 0.004000 0.12327 0.092000 0.18411 -0.406000 0.07187 -0.676000 0.05238 0.155000 0.16302 CAC NOVEL MUC12-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000347234.1 3 5.714911 KEEP 11 0 0 19 545 AA 0.999859 0.999859 0 + 14 49 472 0 0 32.05301 180 50 6078 286 ENST00000379442.3 0.072165 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100678029 100678029 __UNKNOWN__ Missense_Mutation SNP G G C rs142558659 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100678029G>C ENST00000306151.4 + 3 3396 c.3332G>C c.(3331-3333)aGg>aCg p.R1111T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1111 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCACCAGGCTGGTGGTC 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 498 396 431 NA NA NA 7 NA NA 100678029 2203 4300 6503 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.3332G>C chr7.hg19:g.100678029G>C ENSP00000302716:p.Arg1111Thr NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 40.436102 CCAxGCT COVERED . . . . . . . . . . c 0.065 -1.213913 0.01555 . . ENSG00000169876 ENST00000306151 T 0.02812 4.15 0.801 -1.6 0.08426 . . . . . T 0.00906 0.0030 N 0.01352 -0.895 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.45644 -0.9247 9 0.02654 T 1 . 6.8116 0.23807 0.0:0.6951:0.3049:0.0 . 1111 Q685J3 MUC17_HUMAN T 1111 ENSP00000302716:R1111T ENSP00000302716:R1111T R + 2 0 MUC17 100464749 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.692000 0.05127 -0.647000 0.05444 -2.911000 0.00091 AGG NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 138 2.23435 KEEP 17 8 261 99 3382 GG 1 1 0 + 45 60 1275 0 0 75.623228 695 60 24412 1132 ENST00000306151.4 0.060811 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100678032 100678032 __UNKNOWN__ Missense_Mutation SNP T T C rs147173571 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100678032T>C ENST00000306151.4 + 3 3399 c.3335T>C c.(3334-3336)cTg>cCg p.L1112P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1112 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCACCAGGCTGGTGGTCAGT 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 494 394 428 NA NA NA 7 NA NA 100678032 2203 4300 6503 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.3335T>C chr7.hg19:g.100678032T>C ENSP00000302716:p.Leu1112Pro NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 40.697419 GGCxGGT COVERED . . . . . . . . . . C 0.149 -1.093913 0.01858 . . ENSG00000169876 ENST00000306151 T 0.03212 4.01 0.693 -0.391 0.12446 . . . . . T 0.01320 0.0043 N 0.01576 -0.805 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.48055 -0.9068 8 0.25751 T 0.34 . . . . . 1112 Q685J3 MUC17_HUMAN P 1112 ENSP00000302716:L1112P ENSP00000302716:L1112P L + 2 0 MUC17 100464752 0.000000 0.05858 0.001000 0.08648 0.004000 0.04260 -6.070000 0.00082 -0.165000 0.10908 -1.364000 0.01208 CTG NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 133 5.454147 KEEP 16 7 225 97 2976 TT 1 1 0 + 39 60 1160 0 0 68.198608 712 60 24905 1126 ENST00000306151.4 0.051931 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100678924 100678924 __UNKNOWN__ Silent SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100678924C>G ENST00000306151.4 + 3 4291 c.4227C>G c.(4225-4227)gtC>gtG p.V1409V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1409 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CGCCGGTAGTCAGTTCTGAGG 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 274 279 278 NA NA NA 7 NA NA 100678924 2203 4300 6503 SO:0001819 synonymous_variant AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.4227C>G chr7.hg19:g.100678924C>G NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 20.428794 AGTxAGT COVERED NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 8 7.524121 KEEP 6 0 0 25 850 CC 0.999892 0.999892 0 + 77 60 2735 0 0 221.326134 367 60 13125 577 ENST00000306151.4 0.173423 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100681297 100681297 __UNKNOWN__ Silent SNP A A G rs148847871 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100681297A>G ENST00000306151.4 + 3 6664 c.6600A>G c.(6598-6600)tcA>tcG p.S2200S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2200 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AAGCCCGTTCATCTCCTACAA 0.507 NA NA A||| 287 0.0573083 0.0983 0.0159 5008 , , NA 27240 0.0367 NA 0.0239 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA NA 0 309 309 309 NA NA NA 7 NA NA 100681297 2203 4300 6503 SO:0001819 synonymous_variant AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.6600A>G chr7.hg19:g.100681297A>G NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 31.627719 TTCxTCT COVERED NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 67 3.676201 KEEP 25 2 71 37 1090 AA 1 1 0 + 49 49 1660 0 0 112.815504 637 60 21807 991 ENST00000306151.4 0.071429 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100681303 100681303 __UNKNOWN__ Silent SNP T T C rs143516283 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100681303T>C ENST00000306151.4 + 3 6670 c.6606T>C c.(6604-6606)ccT>ccC p.P2202P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2202 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTTCATCTCCTACAACTTCTG 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 311 311 311 NA NA NA 7 NA NA 100681303 2203 4300 6503 SO:0001819 synonymous_variant AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.6606T>C chr7.hg19:g.100681303T>C NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 32.485781 TCCxACA COVERED NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 66 3.279789 KEEP 22 2 72 36 1105 TT 1 1 0 + 50 49 1794 0 0 124.524803 667 60 23197 1014 ENST00000306151.4 0.069735 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100681460 100681460 __UNKNOWN__ Missense_Mutation SNP A A G rs144955715 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100681460A>G ENST00000306151.4 + 3 6827 c.6763A>G c.(6763-6765)Act>Gct p.T2255A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2255 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GACCACTTCTACTGAAGCCAC 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 280 285 283 NA NA NA 7 NA NA 100681460 2203 4297 6500 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.6763A>G chr7.hg19:g.100681460A>G ENSP00000302716:p.Thr2255Ala NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 30.217878 TCTxCTG COVERED . . . . . . . . . . A 4.354 0.065153 0.08388 . . ENSG00000169876 ENST00000306151 T 0.02258 4.37 1.65 -3.3 0.05003 . . . . . T 0.01287 0.0042 N 0.24115 0.695 0.09310 N 1 B 0.14438 0.01 B 0.08055 0.003 T 0.48801 -0.9003 9 0.07813 T 0.8 . 3.6036 0.08034 0.3157:0.0:0.4762:0.208 . 2255 Q685J3 MUC17_HUMAN A 2255 ENSP00000302716:T2255A ENSP00000302716:T2255A T + 1 0 MUC17 100468180 0.000000 0.05858 0.000000 0.03702 0.024000 0.10985 -3.385000 0.00489 -1.304000 0.02329 0.113000 0.15668 ACT NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 14 7.259836 KEEP 4 2 39 38 1127 AA 1 1 0 + 26 60 894 0 0 54.143538 668 60 21993 935 ENST00000306151.4 0.037464 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100681510 100681510 __UNKNOWN__ Silent SNP T T C rs116767656 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100681510T>C ENST00000306151.4 + 3 6877 c.6813T>C c.(6811-6813)acT>acC p.T2271T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2271 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCATACCAACTTCAACTCTTA 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 262 265 264 NA NA NA 7 NA NA 100681510 2203 4300 6503 SO:0001819 synonymous_variant AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.6813T>C chr7.hg19:g.100681510T>C NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 27.625839 AACxTCA COVERED NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 11 5.853125 KEEP 3 1 36 32 1007 TT 0.999998 0.999998 0 + 21 47 733 0 0 42.999109 635 60 22267 856 ENST00000306151.4 0.032012 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100682831 100682831 __UNKNOWN__ Missense_Mutation SNP C C G rs34223735 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:100682831C>G ENST00000306151.4 + 3 8198 c.8134C>G c.(8134-8136)Ctt>Gtt p.L2712V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2712 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCTAGCACCCTTTCAACAAC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 257 264 262 NA NA NA 7 NA NA 100682831 2203 4300 6503 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.8134C>G chr7.hg19:g.100682831C>G ENSP00000302716:p.Leu2712Val NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 23.005202 ACCxTTT COVERED . . . . . . . . . . C 0.020 -1.446165 0.01089 . . ENSG00000169876 ENST00000306151 T 0.04049 3.72 0.0465 0.0465 0.14256 . . . . . T 0.02494 0.0076 N 0.17082 0.46 0.09310 N 1 B 0.17667 0.023 B 0.09377 0.004 T 0.48875 -0.8996 9 0.14656 T 0.56 . 3.6497 0.08198 2.0E-4:0.5059:0.4937:2.0E-4 rs34223735 2712 Q685J3 MUC17_HUMAN V 2712 ENSP00000302716:L2712V ENSP00000302716:L2712V L + 1 0 MUC17 100469551 0.018000 0.18449 0.005000 0.12908 0.081000 0.17604 -0.783000 0.04638 0.132000 0.18615 0.134000 0.15878 CTT NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 6 5.385177 KEEP 0 2 54 37 1270 CC 1 1 0 + 48 60 1409 0 0 89.184459 617 60 22061 886 ENST00000306151.4 0.07218 1 RASA4B 100271927 __UNKNOWN__ __UNKNOWN__ 7 102136745 102136745 __UNKNOWN__ Intron SNP G G C rs376824581 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:102136745G>C ENST00000465829.1 - 11 1077 RASA4B_ENST00000541662.1_Intron|RASA4B_ENST00000306682.6_Intron|RP11-514P8.8_ENST00000481893.1_RNA C9J798 RAS4B_HUMAN RAS p21 protein activator 4B NA NA intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872) skin(1) 1 ATCTAAGCTGGCCCCTCAATA 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS59506.1 7q22.1 2013-01-10 ENSG00000170667 ENSG00000170667 100271927 Pleckstrin homology (PH) domain containing 35202 protein-coding gene gene with protein product NA NA Standard XM_003118600 NM_001277335 NA Approved uc003uzu.2 C9J798 OTTHUMG00000022944 ENST00000465829.1:c.1007-94C>G chr7.hg19:g.102136745G>C NA hg19 0.02 3.711601 CTGxCCC COVERED NOVEL RASA4B-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000059600.6 1 7.824573 KEEP 55 0 0 26 871 GG 0.999863 0.999863 0 - 10 33 307 0 0 20.361761 123 40 4295 223 ENST00000465829.1 0.075188 1 POLR2J3 548644 __UNKNOWN__ __UNKNOWN__ 7 102180502 102180502 __UNKNOWN__ Silent SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:102180502C>G ENST00000379357.5 - 4 521 c.522G>C c.(520-522)gtG>gtC p.V174V RP11-514P8.8_ENST00000481893.1_RNA Q9H1A7 RPB1C_HUMAN polymerase (RNA) II (DNA directed) polypeptide J3 0 NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899) NA TTGTTTCAGCCACGGGTCCTT 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS47673.1 7q22.1 2013-01-21 ENSG00000168255 ENSG00000168255 548644 RNA polymerase subunits 33853 protein-coding gene gene with protein product NA NA 15586814 Standard NM_001097615 NM_001097615 NA Approved uc010lid.1 Q9H1A7 OTTHUMG00000150384 ENST00000379357.5:c.522G>C chr7.hg19:g.102180502C>G NA A6NKA1 hg19 0.02 15.486135 AGCxACG COVERED NOVEL POLR2J3-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 18.056599 KEEP 24 0 0 60 2035 CC 1 1 0 - 51 49 1703 0 0 128.980559 339 51 12104 629 ENST00000379357.5 0.130769 1 POLR2J3 548644 __UNKNOWN__ __UNKNOWN__ 7 102180657 102180657 __UNKNOWN__ Intron SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:102180657G>C ENST00000379357.5 - 4 485 RP11-514P8.8_ENST00000481893.1_RNA Q9H1A7 RPB1C_HUMAN polymerase (RNA) II (DNA directed) polypeptide J3 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899) NA gcccggggagggggccggagg 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47673.1 7q22.1 2013-01-21 ENSG00000168255 ENSG00000168255 548644 RNA polymerase subunits 33853 protein-coding gene gene with protein product NA NA 15586814 Standard NM_001097615 NM_001097615 NA Approved uc010lid.1 Q9H1A7 OTTHUMG00000150384 ENST00000379357.5:c.486-119C>G chr7.hg19:g.102180657G>C NA A6NKA1 hg19 0.02 1.417856 GAGxGGG UNCOVERED NOVEL POLR2J3-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 3.909347 KEEP 58 0 0 13 409 GG 0 0 0 - 30 27 860 0 0 75.777514 58 27 2018 158 ENST00000379357.5 0.340909 0.999768 RP11-514P8.7 0 __UNKNOWN__ __UNKNOWN__ 7 102215698 102215698 __UNKNOWN__ Intron SNP C C T rs138713292 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:102215698C>T ENST00000514917.2 - 4 417 NA NA NA tagcatctcgctctgtcgccc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000514917.2:c.418-5327G>A chr7.hg19:g.102215698C>T NA hg19 0.02 -0.114019 TCGxTCT UNCOVERED NOVEL RP11-514P8.7-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000469674.1 5 2.407773 KEEP 11 0 0 8 284 CC 0 0 0 - 6 39 198 0 0 18.764705 7 45 232 34 ENST00000514917.2 0.461538 0.162467 RP11-514P8.6 0 __UNKNOWN__ __UNKNOWN__ 7 102270818 102270818 __UNKNOWN__ Intron SNP T T C rs376578613|rs535415805 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:102270818T>C ENST00000519541.1 - 6 811 NA NA NA tctctctctctctctctctct 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000519541.1:c.684-6020A>G chr7.hg19:g.102270818T>C NA hg19 0.02 -0.129802 CTCxCTC UNCOVERED NOVEL RP11-514P8.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000453067.1 5 2.406271 KEEP 1 0 0 8 227 TT 0 0 0 - 5 60 149 1 0 13.537501 8 60 248 33 ENST00000519541.1 0.384615 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 102313382 102313382 __UNKNOWN__ IGR SNP G G T rs371718671 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:102313382G>T NA NA POLR2J2 (1294 upstream) : FAM185A (76035 downstream) NA NA NA ccgtggtctagcggtagcgtt 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.102313382G>T NA hg19 0.02 1.634218 CTAxCGG COVERED NOVEL 0 0 2.678519 KEEP 0 2 63 31 1086 GG 0.999998 0.999675 0 7 47 232 0 0 16.007977 79 48 2880 151 0.081395 0.999678 ARMC10 83787 __UNKNOWN__ __UNKNOWN__ 7 102739179 102739179 __UNKNOWN__ 3'UTR SNP A A G rs34745227 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:102739179A>G ENST00000441711.2 + 0 1498 ARMC10_ENST00000428183.2_3'UTR|ARMC10_ENST00000323716.3_3'UTR|ARMC10_ENST00000454559.1_3'UTR|ARMC10_ENST00000425331.1_3'UTR|ARMC10_ENST00000541300.1_3'UTR NM_001161009.2 NP_001154481.1 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 NA NA regulation of growth (GO:0040008) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGCCAAGTGAATATAAGAGCT 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY150853 CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1 7q22.1 2013-02-14 ENSG00000170632 ENSG00000170632 83787 Armadillo repeat containing 21706 protein-coding gene gene with protein product specific Splicing Variant involved in Hepatocarcinogenesis 611864 NA 12839973 Standard NM_031905 NM_031905 NA Approved MGC3195, SVH uc003vaw.2 Q8N2F6 OTTHUMG00000157201 ENST00000441711.2:c.*179A>G chr7.hg19:g.102739179A>G NA A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6 hg19 CCDS55146.1 0.02 27.736304 TGAxTAT COVERED NOVEL ARMC10-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347884.1 3 4.350816 KEEP 42 4 133 61 1900 AA 1 1 0 + 76 49 2687 0 0 205.697484 529 60 18408 819 ENST00000441711.2 0.12562 1 METTL2B 55798 __UNKNOWN__ __UNKNOWN__ 7 128146605 128146605 __UNKNOWN__ 3'UTR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:128146605A>G ENST00000480046.1 + 0 5692 Q6P1Q9 MET2B_HUMAN methyltransferase like 2B NA NA tRNA methylation (GO:0030488) tRNA (cytosine) methyltransferase activity (GO:0016427) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGGAGGGATTAAAGTATATGA 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002212 CCDS5803.2 7q32.2 2012-06-12 2006-02-09 2006-02-09 ENSG00000165055 ENSG00000165055 55798 18272 protein-coding gene gene with protein product 607846 methyltransferase like 2 METTL2 NA 11738826 Standard NM_018396 NM_018396 NA Approved METL, FLJ11350 uc003vnf.3 Q6P1Q9 OTTHUMG00000143738 ENST00000480046.1:c.*4635A>G chr7.hg19:g.128146605A>G NA B4DZ68|Q0IJ54|Q3B7J1 hg19 0.02 25.526301 ATTxAAG COVERED NOVEL METTL2B-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000289818.2 5 7.55565 KEEP 11 4 134 72 2106 AA 1 1 0 + 15 27 565 0 0 33.003413 604 60 20857 835 ENST00000480046.1 0.024233 1 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128496927 128496927 __UNKNOWN__ Missense_Mutation SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:128496927C>A ENST00000325888.8 + 45 7774 c.7513C>A c.(7513-7515)Cca>Aca p.P2505T FLNC_ENST00000346177.6_Missense_Mutation_p.P2472T|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2505 Interaction with INPPL1. NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGCTGGGGACCCAGGCTTGGT 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 66 64 NA NA NA 7 NA NA 128496927 2130 4249 6379 SO:0001583 missense AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.7513C>A chr7.hg19:g.128496927C>A ENSP00000327145:p.Pro2505Thr NA B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 11.78928 GACxCAG COVERED . . . . . . . . . . c 24.2 4.506947 0.85282 . . ENSG00000128591 ENST00000325888;ENST00000346177 D;D 0.86562 -2.14;-2.14 5.51 5.51 0.81932 Immunoglobulin E-set (1);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 D 0.93693 0.7985 M 0.79805 2.47 0.80722 D 1 D;P 0.89917 1.0;0.9 D;P 0.91635 0.999;0.733 D 0.92283 0.5835 10 0.33940 T 0.23 . 19.4409 0.94820 0.0:1.0:0.0:0.0 . 2472;2505 Q14315-2;Q14315 .;FLNC_HUMAN T 2505;2472 ENSP00000327145:P2505T;ENSP00000344002:P2472T ENSP00000327145:P2505T P + 1 0 FLNC 128284163 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 5.954000 0.70298 2.588000 0.87417 0.552000 0.68991 CCA NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 0 18.351144 KEEP 0 0 0 61 2064 CC 1 1 0 + 97 60 3207 0 0 281.105953 227 60 7724 437 ENST00000325888.8 0.299383 1 NRF1 4899 __UNKNOWN__ __UNKNOWN__ 7 129317490 129317490 __UNKNOWN__ Silent SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:129317490A>G ENST00000393232.1 + 4 474 c.357A>G c.(355-357)ttA>ttG p.L119L NRF1_ENST00000353868.4_Silent_p.L119L|NRF1_ENST00000393231.3_Silent_p.L119L|NRF1_ENST00000311967.2_Silent_p.L119L|NRF1_ENST00000393230.2_Silent_p.L119L|NRF1_ENST00000223190.4_Silent_p.L119L|NRF1_ENST00000539636.1_5'UTR NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 119 NA cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 GAGCCACGTTAGATGAATATA 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 156 139 145 NA NA NA 7 NA NA 129317490 2203 4300 6503 SO:0001819 synonymous_variant L22454 CCDS5813.2 7q32 2008-07-18 ENSG00000106459 ENSG00000106459 4899 7996 protein-coding gene gene with protein product alpha palindromic-binding protein 600879 NA 2584221 Standard NM_001040110 NM_005011 NA Approved EWG, ALPHA-PAL uc003voz.3 Q16656 OTTHUMG00000143736 ENST00000393232.1:c.357A>G chr7.hg19:g.129317490A>G NA A8K4C6|B4DDV6|Q15305|Q96AN2 hg19 CCDS5813.2 0.02 11.348886 GTTxGAT COVERED NOVEL NRF1-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289813.1 1 10.531046 KEEP 0 0 0 35 1068 AA 0.999999 0.999999 0 + 81 60 2927 0 0 261.142467 180 60 6145 344 ENST00000393232.1 0.310345 1 EXOC4 60412 __UNKNOWN__ __UNKNOWN__ 7 133692563 133692563 __UNKNOWN__ Missense_Mutation SNP C C T rs140959939 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:133692563C>T ENST00000253861.4 + 17 2691 c.2662C>T c.(2662-2664)Cgg>Tgg p.R888W EXOC4_ENST00000545148.1_Missense_Mutation_p.R498W|EXOC4_ENST00000541309.1_Missense_Mutation_p.R176W|EXOC4_ENST00000539845.1_Missense_Mutation_p.R787W NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 888 NA cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904) cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886) protein N-terminus binding (GO:0047485) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CACCATGTCGCGGGAGGCAGA 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 55 57 NA NA NA 7 NA NA 133692563 2203 4300 6503 SO:0001583 missense AL831989 CCDS5829.1, CCDS43648.1 7q31 2013-01-22 2005-11-01 2005-11-01 ENSG00000131558 ENSG00000131558 60412 30389 protein-coding gene gene with protein product 608185 SEC8-like 1 (S. cerevisiae) SEC8L1 NA 11214970, 12687004 Standard NM_021807 XM_005250523 NA Approved KIAA1699, MGC27170, SEC8, Sec8p uc003vrk.3 Q96A65 OTTHUMG00000155259 ENST00000253861.4:c.2662C>T chr7.hg19:g.133692563C>T ENSP00000253861:p.Arg888Trp NA E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102 hg19 CCDS5829.1 0.02 14.559173 TCGxGGG COVERED . . . . . . . . . . C 20.4 3.976382 0.74360 . . ENSG00000131558 ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309 . . . 5.45 5.45 0.79879 . 0.000000 0.85682 D 0.000000 D 0.83681 0.5307 M 0.82323 2.585 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.95;0.998;0.995 D 0.85599 0.1251 9 0.66056 D 0.02 . 18.2831 0.90104 0.0:1.0:0.0:0.0 . 420;498;888 B7Z689;F5GZT1;Q96A65 .;.;EXOC4_HUMAN W 888;507;787;498;176 . ENSP00000253861:R888W R + 1 2 EXOC4 133343103 0.999000 0.42202 0.963000 0.40424 0.957000 0.61999 4.288000 0.59007 2.569000 0.86673 0.591000 0.81541 CGG NOVEL EXOC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339182.1 2 10.787544 KEEP 0 0 0 36 1158 CC 0.999999 0.999999 0 + 136 60 4706 0 0 431.84061 224 60 7487 498 ENST00000253861.4 0.377778 1 CALD1 800 __UNKNOWN__ __UNKNOWN__ 7 134618117 134618117 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:134618117G>C ENST00000361675.2 + 5 826 c.597G>C c.(595-597)aaG>aaC p.K199N CALD1_ENST00000361388.2_Missense_Mutation_p.K199N|CALD1_ENST00000393118.2_Missense_Mutation_p.K193N|CALD1_ENST00000495522.1_Missense_Mutation_p.K193N|CALD1_ENST00000424922.1_Missense_Mutation_p.K193N|CALD1_ENST00000543443.1_Missense_Mutation_p.K204N|CALD1_ENST00000361901.2_Missense_Mutation_p.K199N|CALD1_ENST00000422748.1_Missense_Mutation_p.K199N|CALD1_ENST00000417172.1_Missense_Mutation_p.K199N Q05682 CALD1_HUMAN caldesmon 1 199 Myosin and calmodulin-binding. {ECO:0000250}. NA cellular component movement (GO:0006928)|muscle contraction (GO:0006936) actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886) actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 agaagccaaagcgagggagca 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 68 65 66 NA NA NA 7 NA NA 134618117 2203 4300 6503 SO:0001583 missense M64110 CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2 7q33 2007-04-23 ENSG00000122786 ENSG00000122786 800 1441 protein-coding gene gene with protein product 114213 NA 1885618 Standard NM_033138 NM_004342 NA Approved CDM, H-CAD, L-CAD uc003vrz.3 Q05682 OTTHUMG00000155407 ENST00000361675.2:c.597G>C chr7.hg19:g.134618117G>C ENSP00000354826:p.Lys199Asn NA A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91 hg19 CCDS5835.1 0.02 13.062356 AAAxCGA COVERED . . . . . . . . . . G 12.95 2.092237 0.36952 . . ENSG00000122786 ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443 T;T;T;T;T;T;T;T;T;T 0.49720 0.77;0.77;0.77;0.77;0.77;0.77;0.77;3.24;0.77;3.24 5.22 5.22 0.72569 . 0.000000 0.45867 D 0.000328 T 0.64638 0.2616 M 0.71581 2.175 0.34666 D 0.723162 P;D;D;D;D;P;D;D;D 0.58620 0.946;0.979;0.983;0.979;0.979;0.944;0.979;0.983;0.983 P;P;P;P;P;P;P;P;P 0.60415 0.775;0.801;0.775;0.666;0.666;0.553;0.666;0.874;0.874 T 0.69239 -0.5197 10 0.23891 T 0.37 -13.6704 18.7579 0.91839 0.0:0.0:1.0:0.0 . 148;204;199;193;193;199;199;199;199 B4DPW5;F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1 .;.;.;.;.;.;.;CALD1_HUMAN;. N 199;199;199;199;199;199;193;193;193;204 ENSP00000398826:K199N;ENSP00000411476:K199N;ENSP00000355000:K199N;ENSP00000395710:K199N;ENSP00000354826:K199N;ENSP00000354513:K199N;ENSP00000376826:K193N;ENSP00000393621:K193N;ENSP00000419673:K193N;ENSP00000445641:K204N ENSP00000355000:K199N K + 3 2 CALD1 134268657 0.997000 0.39634 0.992000 0.48379 0.506000 0.33950 1.721000 0.38032 2.426000 0.82243 0.563000 0.77884 AAG NOVEL CALD1-005 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339939.1 4 19.859503 KEEP 0 0 0 66 2276 GG 1 1 0 + 69 60 2392 0 0 197.859396 269 60 9714 473 ENST00000361675.2 0.204142 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 134901751 134901751 __UNKNOWN__ IGR SNP G G C rs386718100|rs35414005 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:134901751G>C NA NA WDR91 (5435 upstream) : STRA8 (14979 downstream) NA NA NA ttacaggcatgagccaccacg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.134901751G>C NA hg19 0.02 -0.070187 CATxAGC UNCOVERED NOVEL 0 9 6.019134 KEEP 9 0 0 20 685 GG 0.993072 0.053762 0 2 54 76 0 0 6.600547 6 60 224 32 0.25 0.054137 PRSS1 5644 __UNKNOWN__ __UNKNOWN__ 7 142458486 142458486 __UNKNOWN__ Silent SNP C C T rs369646357 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:142458486C>T ENST00000311737.7 + 2 127 c.121C>T c.(121-123)Ctg>Ttg p.L41L PRSS1_ENST00000486171.1_Silent_p.L41L NM_002769.4 NP_002760.1 P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 41 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) Aprotinin(DB06692) CCAGGTGTCCCTGAATTCTGG 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 125 121 122 NA NA NA 7 NA NA 142458486 2203 4300 6503 SO:0001819 synonymous_variant M22612 CCDS5872.1 7q34 2012-10-02 ENSG00000204983 ENSG00000204983 5644 3.4.21.4 Serine peptidases / Serine peptidases 9475 protein-coding gene gene with protein product 276000 TRY1 NA Standard NM_002769 NA Approved uc003wak.2 P07477 OTTHUMG00000158923 ENST00000311737.7:c.121C>T chr7.hg19:g.142458486C>T NA A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7 hg19 CCDS5872.1 0.02 15.137735 TCCxTGA COVERED NOVEL PRSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352538.2 7 8.12438 KEEP 2 0 0 27 897 CC 0.999988 0.999988 0 + 35 49 1229 0 0 88.930642 344 60 12423 497 ENST00000311737.7 0.092348 1 ZNF783 100289678 __UNKNOWN__ __UNKNOWN__ 7 148974129 148974129 __UNKNOWN__ Intron SNP C C G rs13231583 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:148974129C>G ENST00000434415.1 + 5 836 NM_001195220.1 NP_001182149.1 Q6ZMS7 ZN783_HUMAN zinc finger family member 783 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) ttagtagagacggggtttcac 0.552 NA NA C||| 333 0.0664936 0.0159 0.062 5008 , , NA 15806 0.002 NA 0.1352 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131504 CCDS56519.1 7q36.1 2013-01-08 2008-05-28 ENSG00000204946 ENSG00000204946 100289678 Zinc fingers, C2H2-type, - 27222 protein-coding gene gene with protein product NA NA 8619474, 9110174 Standard NM_001195220 NM_001195220 NA Approved DKFZp667J212 uc011kuo.2 Q6ZMS7 OTTHUMG00000158969 ENST00000434415.1:c.674-1361C>G chr7.hg19:g.148974129C>G NA C9J9J2 hg19 CCDS56519.1 0.02 -0.070183 AGAxGGG UNCOVERED NOVEL ZNF783-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352715.1 5 3.009472 KEEP 5 0 0 10 329 CT 0 0 0 + 4 60 145 0 0 14.332302 3 60 107 22 ENST00000434415.1 0.571429 0.054137 ZNF746 155061 __UNKNOWN__ __UNKNOWN__ 7 149188814 149188814 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:149188814C>A ENST00000458143.2 - 4 791 ZNF746_ENST00000461958.2_3'UTR|ZNF746_ENST00000340622.3_Intron NM_001163474.1|NM_152557.4 NP_001156946.1|NP_689770.3 Q6NUN9 ZN746_HUMAN zinc finger protein 746 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCTCTGCGGACCACCACCTTT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055975 CCDS5897.1, CCDS55180.1 7q36.1 2013-01-08 ENSG00000181220 ENSG00000181220 155061 Zinc fingers, C2H2-type, - 21948 protein-coding gene gene with protein product 613914 NA Standard NM_152557 NM_152557 NA Approved FLJ31413 uc010lpi.2 Q6NUN9 OTTHUMG00000158972 ENST00000458143.2:c.520+1135G>T chr7.hg19:g.149188814C>A NA A8K6Z9|Q6ZRF9 hg19 CCDS55180.1 0.02 25.093031 GGAxCAC COVERED NOVEL ZNF746-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000352730.1 3 10.366449 KEEP 1 4 100 70 2361 CC 1 1 0 - 28 60 953 0 0 58.471481 627 60 21635 855 ENST00000458143.2 0.042748 1 RHEB 6009 __UNKNOWN__ __UNKNOWN__ 7 151216835 151216835 __UNKNOWN__ 5'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:151216835C>T ENST00000262187.5 - 0 175 RHEB_ENST00000496004.1_Intron NM_005614.3 NP_005605.1 Q15382 RHEB_HUMAN Ras homolog enriched in brain NA NA cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872) breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7) 14 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) AGCACCGCCCCTCTTCGCGCC 0.726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(98;671 892 8111 15140 36556 39178 39939 44184) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D78132 CCDS5927.1 7q36 2014-05-09 2003-07-14 2003-07-14 ENSG00000106615 ENSG00000106615 6009 10011 protein-coding gene gene with protein product 601293 Ras homolog enriched in brain 2 RHEB2 NA 8661031 Standard NM_005614 NM_005614 NA Approved uc003wkh.1 Q15382 OTTHUMG00000157330 ENST00000262187.5:c.-238G>A chr7.hg19:g.151216835C>T NA B3KWN6|D3DX13|Q53Y56|Q99444 hg19 CCDS5927.1 0.02 4.485492 CCCxTCT COVERED NOVEL RHEB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348468.2 0 10.767612 KEEP 31 1 29 46 1540 CC 1 0.999995 0 - 10 37 359 0 0 26.00649 103 48 3501 227 ENST00000262187.5 0.088496 0.999995 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151882657 151882657 __UNKNOWN__ Silent SNP T T G rs78697077 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:151882657T>G ENST00000262189.6 - 34 5286 c.5068A>C c.(5068-5070)Aga>Cga p.R1690R KMT2C_ENST00000355193.2_Silent_p.R1690R NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 1690 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) p.R1690R(2) NA TATGGTGCTCTTTCTTGTGAG 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - coding silent(2) stomach(2) 148 127 134 NA NA NA 7 NA NA 151882657 2202 4300 6502 SO:0001819 synonymous_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.5068A>C chr7.hg19:g.151882657T>G NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 4.337029 CTCxTTC COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 0 5.115916 KEEP 0 0 0 17 549 TT 0.999366 0.999356 0 - 5 57 189 0 0 12.515957 102 60 3630 144 ENST00000262189.6 0.046729 0.999989 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151945140 151945140 __UNKNOWN__ Silent SNP C C T rs57648310 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:151945140C>T ENST00000262189.6 - 14 2597 c.2379G>A c.(2377-2379)tcG>tcA p.S793S KMT2C_ENST00000355193.2_Silent_p.S793S NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 793 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GCATGTCATGCGAAGGCAAGT 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 483 434 451 NA NA NA 7 NA NA 151945140 2203 4300 6503 SO:0001819 synonymous_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.2379G>A chr7.hg19:g.151945140C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 35.351734 ATGxGAA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 7 15.886496 KEEP 31 4 120 95 3184 CC 1 1 0 - 90 60 3030 0 0 222.127151 744 60 24924 1151 ENST00000262189.6 0.107914 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151945167 151945167 __UNKNOWN__ Silent SNP G G T rs2537264 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:151945167G>T ENST00000262189.6 - 14 2570 c.2352C>A c.(2350-2352)tcC>tcA p.S784S KMT2C_ENST00000355193.2_Silent_p.S784S NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 784 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA AAGGTGTTGGGGAGGAAGACA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 355 320 332 NA NA NA 7 NA NA 151945167 2203 4300 6503 SO:0001819 synonymous_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.2352C>A chr7.hg19:g.151945167G>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 31.144246 TGGxGAG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 5 18.916191 KEEP 89 2 66 86 2887 GG 1 1 0 - 65 49 2196 1 0 154.83636 682 60 23767 1098 ENST00000262189.6 0.087015 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962257 151962257 __UNKNOWN__ Silent SNP C C T rs62478357 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:151962257C>T ENST00000262189.6 - 8 1268 c.1050G>A c.(1048-1050)ccG>ccA p.P350P KMT2C_ENST00000355193.2_Silent_p.P350P NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 350 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA AGAGGTCTCCCGGGCTGTCGC 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 146 134 138 NA NA NA 7 NA NA 151962257 2203 4296 6499 SO:0001819 synonymous_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1050G>A chr7.hg19:g.151962257C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 30.665709 TCCxGGG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 4 10.343529 KEEP 174 12 387 170 5509 CC 1 1 0 - 72 49 2525 0 0 184.746003 660 60 21776 1251 ENST00000262189.6 0.098361 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962265 151962265 __UNKNOWN__ Missense_Mutation SNP C C T rs201834857 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:151962265C>T ENST00000262189.6 - 8 1260 c.1042G>A c.(1042-1044)Gac>Aac p.D348N KMT2C_ENST00000355193.2_Missense_Mutation_p.D348N NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 348 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) p.D348N(2) NA CCCGGGCTGTCGCACACTGCA 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) skin(2) 112 101 104 NA NA NA 7 NA NA 151962265 2203 4296 6499 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1042G>A chr7.hg19:g.151962265C>T ENSP00000262189:p.Asp348Asn NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 26.543909 TGTxGCA COVERED . . . . . . . . . . C 15.09 2.730606 0.48939 . . ENSG00000055609 ENST00000262189;ENST00000355193 D;D 0.98807 -5.15;-5.15 4.65 4.65 0.58169 Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1); 0.000000 0.43919 U 0.000512 D 0.98516 0.9505 L 0.47716 1.5 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 D 0.98479 1.0604 10 0.23302 T 0.38 . 17.9157 0.88950 0.0:1.0:0.0:0.0 . 348 Q8NEZ4 MLL3_HUMAN N 348 ENSP00000262189:D348N;ENSP00000347325:D348N ENSP00000262189:D348N D - 1 0 MLL3 151593198 1.000000 0.71417 1.000000 0.80357 0.048000 0.14542 7.772000 0.85439 2.271000 0.75665 0.557000 0.71058 GAC NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 3 10.477371 KEEP 184 12 358 161 5147 CC 1 1 0 - 61 49 2065 0 0 146.236651 630 60 20645 1180 ENST00000262189.6 0.088278 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970797 151970797 __UNKNOWN__ Silent SNP A A T rs141993954 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:151970797A>T ENST00000262189.6 - 7 1223 c.1005T>A c.(1003-1005)ccT>ccA p.P335P KMT2C_ENST00000355193.2_Silent_p.P335P NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 335 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA TACATCTTTCAGGAGCTTGGT 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 A 49,4357 29.0+/-57.7 0,49,2154 236 218 224 NA 1005 2.3 1 7 dbSNP_134 224 176,8424 61.0+/-122.8 0,176,4124 no coding-synonymous MLL3 NM_170606.2 0,225,6278 TT,TA,AA NA 2.0465,1.1121,1.73 335/4912 151970797 225,12781 2203 4300 6503 SO:0001819 synonymous_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1005T>A chr7.hg19:g.151970797A>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 35.402763 TTCxGGA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 1 17.734465 KEEP 27 6 185 124 3777 AA 1 1 0 - 35 60 1263 0 0 79.682222 814 60 28650 1169 ENST00000262189.6 0.041225 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152104578 152104578 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:152104578A>G ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA ccaacatgataaaaccggtct 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+28132T>C chr7.hg19:g.152104578A>G NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.3421 GATxAAA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 4 3.911156 KEEP 0 0 0 13 387 AA 0.994391 0.860889 0 - 3 60 106 0 0 8.16445 20 60 670 60 ENST00000262189.6 0.130435 0.865745 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152107150 152107150 __UNKNOWN__ Intron SNP C C G rs528325143 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:152107150C>G ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GAATATAAAACTTTTATGATT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+25560G>C chr7.hg19:g.152107150C>G NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.270958 AAAxTTT COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 3 2.70775 KEEP 0 0 0 9 290 CT 0.992708 0.712085 0 - 3 60 110 0 0 8.699623 18 60 594 44 ENST00000262189.6 0.142857 0.717315 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152111362 152111362 __UNKNOWN__ Intron SNP C C A rs79896645 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:152111362C>A ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA acctgtaatcccagcattttg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+21348G>T chr7.hg19:g.152111362C>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.342036 ATCxCAG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 4 2.40739 KEEP 0 0 0 8 260 CC 0.99257 0.859313 0 - 5 60 150 0 0 11.293962 28 60 952 56 ENST00000262189.6 0.151515 0.865745 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152111469 152111469 __UNKNOWN__ Intron SNP C C T rs112996678 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:152111469C>T ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA acaaattagccgggcatggtg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+21241G>A chr7.hg19:g.152111469C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.122825 AGCxGGG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 2 2.407562 KEEP 1 0 0 8 265 CC 0.99257 0.194853 0 - 3 40 113 0 0 10.655299 4 60 141 27 ENST00000262189.6 0.428571 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 158510384 158510384 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:158510384C>T NA NA NCAPG2 (12864 upstream) : ESYT2 (13301 downstream) NA NA NA ctccttcttccttcttctcct 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.158510384C>T NA hg19 0.02 -0.122687 TTCxTTC COVERED NOVEL 0 13 3.309301 KEEP 3 0 0 11 364 CC 0.99254 0.194847 0 2 40 74 0 0 6.400542 6 60 225 30 0.25 0.196312 WDR60 55112 __UNKNOWN__ __UNKNOWN__ 7 158697813 158697813 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr7:158697813G>T ENST00000407559.3 + 11 1515 NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 NA NA cell projection organization (GO:0030030) cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GGAGTTGTTTGTTCTTGTCtt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47757.1 7q36.3 2013-11-15 ENSG00000126870 ENSG00000126870 55112 WD repeat domain containing 21862 protein-coding gene gene with protein product 615462 NA 23910462 Standard NM_018051 NM_018051 NA Approved FLJ10300, FAP163 uc003woe.4 Q8WVS4 OTTHUMG00000151443 ENST00000407559.3:c.1358-867G>T chr7.hg19:g.158697813G>T NA Q9NW58 hg19 CCDS47757.1 0.02 1.19371 TTTxTTC COVERED NOVEL WDR60-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322668.1 7 3.00586 KEEP 0 0 0 10 320 GG 0.992708 0.992571 0 + 8 60 156 0 0 7.874317 83 60 2905 148 ENST00000407559.3 0.087912 0.999862 ARHGEF10 9639 __UNKNOWN__ __UNKNOWN__ 8 1906310 1906310 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:1906310G>A ENST00000349830.3 + 0 5101 ARHGEF10_ENST00000520359.1_3'UTR|ARHGEF10_ENST00000518288.1_3'UTR|ARHGEF10_ENST00000398564.1_3'UTR|ARHGEF10_ENST00000262112.6_3'UTR NM_014629.2 NP_055444.2 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 NA NA centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307) centrosome (GO:0005813)|cytosol (GO:0005829) kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TGCCCCTGTTGACGTGGAATG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF009205 CCDS34794.1 8p23 2014-09-17 ENSG00000104728 ENSG00000104728 9639 Rho guanine nucleotide exchange factors 14103 protein-coding gene gene with protein product 608136 NA 9205841, 16896804 Standard XM_005266039 NA Approved KIAA0294, Gef10 uc003wpr.3 O15013 OTTHUMG00000163626 ENST00000349830.3:c.*881G>A chr8.hg19:g.1906310G>A NA O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77 hg19 CCDS34794.1 0.02 7.642033 GTTxACG COVERED NOVEL ARHGEF10-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000374589.1 2 10.212979 KEEP 0 0 0 34 1116 GG 0.999998 0.999998 0 + 9 60 297 0 0 17.746794 209 60 7561 319 ENST00000349830.3 0.041284 1 MYOM2 9172 __UNKNOWN__ __UNKNOWN__ 8 2077072 2077072 __UNKNOWN__ Intron SNP A A G rs2280902 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:2077072A>G ENST00000262113.4 + 32 3835 MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 NA NA muscle contraction (GO:0006936) M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982) structural constituent of muscle (GO:0008307) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCACACAGCAAGCACTCCTTT 0.507 NA NA A||| 3310 0.660942 0.6989 0.5937 5008 , , NA 17695 0.6895 NA 0.5785 False NA ,,, NA NA NA 2504 0.7127 NA NA NA NA NA 0 A 3018,1388 680.6+/-403.9 1031,956,216 35 33 34 NA -5 0 8 dbSNP_100 34 4628,3972 588.8+/-392.4 1268,2092,940 no intron MYOM2 NM_003970.2 2299,3048,1156 GG,GA,AA NA 46.186,31.5025,41.2117 2077072 7646,5360 2203 4300 6503 SO:0001627 intron_variant CCDS5957.1 8p23.3 2014-06-06 2012-10-17 ENSG00000036448 ENSG00000036448 9172 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7614 protein-coding gene gene with protein product 603509 myomesin (M-protein) 2 (165kD), myomesin (M-protein) 2, 165kDa NA Standard NM_003970 XM_006716237 NA Approved uc003wpx.4 P54296 OTTHUMG00000129175 ENST00000262113.4:c.3695-43A>G chr8.hg19:g.2077072A>G NA Q7Z3Y2 hg19 CCDS5957.1 0.02 2.282251 GCAxGCA COVERED NOVEL MYOM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251249.1 0 2.40745 KEEP 0 0 0 8 254 AA 0.99257 0.988831 0 + 34 60 1249 0 0 120.359495 35 60 1201 86 ENST00000262113.4 0.492754 0.996233 CSMD1 64478 __UNKNOWN__ __UNKNOWN__ 8 2966188 2966188 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:2966188G>T ENST00000520002.1 - 45 7249 c.6694C>A c.(6694-6696)Caa>Aaa p.Q2232K CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2232K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2232K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2231K|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2232K|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2231K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2232 CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}. NA integral component of membrane (GO:0016021) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGCAGGACTTGGTTGGTGGAG 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 91 90 90 NA NA NA 8 NA NA 2966188 1937 4141 6078 SO:0001583 missense 8p23.2 2012-04-17 ENSG00000183117 ENSG00000183117 64478 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 14026 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 24 608397 NA Standard NM_033225 NM_033225 NA Approved KIAA1890, PPP1R24 uc022aqr.1 Q96PZ7 OTTHUMG00000163605 ENST00000520002.1:c.6694C>A chr8.hg19:g.2966188G>T ENSP00000430733:p.Gln2232Lys NA Q0H0J5|Q96QU9|Q96RM4 hg19 0.02 1.877394 CTTxGTT COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 10.32|10.32 1.317071|1.317071 0.23908|0.23908 .|. .|. ENSG00000183117|ENSG00000183117 ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608 .|T;T;T;T .|0.18174 .|2.23;2.23;2.23;2.23 4.95|4.95 4.95|4.95 0.65309|0.65309 .|CUB (5); .|0.146288 .|0.46442 .|D .|0.000300 T|T 0.32285|0.32285 0.0824|0.0824 L|L 0.35487|0.35487 1.065|1.065 0.80722|0.80722 D|D 1|1 .|P;B;B .|0.50156 .|0.932;0.01;0.003 .|D;B;B .|0.67103 .|0.949;0.072;0.013 T|T 0.02431|0.02431 -1.1160|-1.1160 5|10 .|0.46703 .|T .|0.11 .|. 18.527|18.527 0.90976|0.90976 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|2232;2232;2231 .|E5RIG2;Q96PZ7;F5H2I8 .|.;CSMD1_HUMAN;. Q|K 1711|2232;2232;2093;2231;2231 .|ENSP00000383047:Q2232K;ENSP00000430733:Q2232K;ENSP00000441462:Q2231K;ENSP00000446243:Q2231K .|ENSP00000320445:Q2093K P|Q -|- 2|1 0|0 CSMD1|CSMD1 2953595|2953595 1.000000|1.000000 0.71417|0.71417 0.306000|0.306000 0.25113|0.25113 0.024000|0.024000 0.10985|0.10985 4.034000|4.034000 0.57289|0.57289 2.435000|2.435000 0.82474|0.82474 0.579000|0.579000 0.79373|0.79373 CCA|CAA NOVEL CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000374500.2 0 5.115416 KEEP 0 0 0 17 552 GG 0.999366 0.998684 0 - 33 60 1122 0 0 104.164997 48 60 1737 122 ENST00000520002.1 0.407407 0.999317 SLC35G5 83650 __UNKNOWN__ __UNKNOWN__ 8 11188748 11188748 __UNKNOWN__ Missense_Mutation SNP C C A rs538767857 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:11188748C>A ENST00000382435.4 + 1 352 c.133C>A c.(133-135)Ctg>Atg p.L45M NM_001282300.1|NM_054028.1 NP_001269229.1|NP_473369.1 Q96KT7 S35G5_HUMAN solute carrier family 35, member G5 45 NA integral component of membrane (GO:0016021) NA GGTGGCCCTGCTGGGTGGGGG 0.677 NA NA C||| 3 0.000599042 8e-04 0.0014 5008 , , NA 16814 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 47 54 52 NA NA NA 8 NA NA 11188748 2203 4300 6503 SO:0001583 missense AJ291677 CCDS5980.1 8p23.1 2013-05-22 2011-08-03 2011-08-03 ENSG00000177710 ENSG00000177710 83650 Solute carriers 15546 protein-coding gene gene with protein product 615199 acyl-malonyl condensing enzyme 1-like 2 AMAC, AMAC1L2 NA Standard NM_054028 NM_054028 NA Approved uc003wtp.1 Q96KT7 OTTHUMG00000090653 ENST00000382435.4:c.133C>A chr8.hg19:g.11188748C>A ENSP00000371872:p.Leu45Met NA A2RRL6 hg19 CCDS5980.1 0.02 1.461421 CTGxTGG COVERED . . . . . . . . . . C 8.482 0.859971 0.17178 . . ENSG00000177710 ENST00000382435 T 0.34275 1.37 0.34 0.34 0.15985 . 0.230767 0.22238 N 0.062730 T 0.18841 0.0452 N 0.24115 0.695 0.31574 N 0.655966 B 0.13145 0.007 B 0.14578 0.011 T 0.06570 -1.0819 10 0.52906 T 0.07 -3.4659 2.848 0.05549 0.0:0.5979:0.0:0.4021 . 45 Q96KT7 S35G5_HUMAN M 45 ENSP00000371872:L45M ENSP00000371872:L45M L + 1 2 SLC35G5 11226158 0.990000 0.36364 0.929000 0.37066 0.229000 0.25112 -0.196000 0.09532 0.426000 0.26116 0.089000 0.15464 CTG NOVEL SLC35G5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207313.2 0 4.213465 KEEP 2 0 0 14 470 CC 0.995343 0.994833 0 + 5 24 163 0 0 10.486577 78 60 2756 103 ENST00000382435.4 0.060241 0.999487 KIAA1456 57604 __UNKNOWN__ __UNKNOWN__ 8 12881843 12881843 __UNKNOWN__ Intron SNP C C A rs13268982 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:12881843C>A ENST00000447063.2 + 6 593 KIAA1456_ENST00000524591.2_3'UTR Q9P272 K1456_HUMAN KIAA1456 NA NA methyltransferase activity (GO:0008168) endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 tgagccaccgcgcccggccTG 0.522 NA NA C||| 1724 0.344249 0.2897 0.3084 5008 , , NA 14406 0.1687 NA 0.508 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035082 CCDS47808.1 8p22 2013-10-04 2011-02-23 2011-02-23 ENSG00000250305 ENSG00000250305 57604 26725 protein-coding gene gene with protein product 615666 chromosome 8 open reading frame 79 C8orf79 NA 23381944 Standard NM_001099677 NM_020844 NA Approved FLJ36980 uc010lsq.3 Q8N9K7 OTTHUMG00000165477 ENST00000447063.2:c.265-6780C>A chr8.hg19:g.12881843C>A NA Q96AW6 hg19 0.02 -0.227953 CCGxGCC COVERED NOVEL KIAA1456-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000383263.2 1 2.407291 KEEP 0 0 0 8 256 CT 0.99254 0.578582 0 + 11 60 341 0 0 31.645124 15 60 516 42 ENST00000447063.2 0.423077 0.58293 PCM1 5108 __UNKNOWN__ __UNKNOWN__ 8 17818030 17818030 __UNKNOWN__ Intron SNP G G T rs534422790 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:17818030G>T ENST00000519253.1 + 15 2573 PCM1_ENST00000524226.1_Intron|PCM1_ENST00000325083.8_Intron Q15154 PCM1_HUMAN pericentriolar material 1 NA NA centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539) centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234) identical protein binding (GO:0042802) PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) ACTCttttttgtttttgtttt 0.393 NA NA T RET, JAK2 papillary thyroid, CML, MPD g||| 2967 0.592452 0.708 0.5764 5008 , , NA 19019 0.4692 NA 0.7117 False NA ,,, NA NA NA 2504 0.4519 NA NA NA Dom yes 8 8p22-p21.3 5108 pericentriolar material 1 (PTC4) E, L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47812.1 8p22-p21.3 2008-08-08 ENSG00000078674 ENSG00000078674 5108 8727 protein-coding gene gene with protein product 600299 NA 8120099, 15659651 Standard NM_006197 NM_006197 NA Approved PTC4 uc003wyi.4 Q15154 OTTHUMG00000163699 ENST00000519253.1:c.2322+77G>T chr8.hg19:g.17818030G>T NA Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2 hg19 0.02 -0.434235 TTTxTTT COVERED NOVEL PCM1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000374800.1 4 3.043615 KEEP 0 1 19 17 573 GG 0.999859 0.959724 0 + 6 60 113 0 0 6.49784 42 60 1344 80 ENST00000519253.1 0.125 0.959859 ATP6V1B2 526 __UNKNOWN__ __UNKNOWN__ 8 20075615 20075615 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:20075615A>G ENST00000276390.2 + 13 1306 NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726) ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961) endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) Gallium nitrate(DB05260) CAGATGACTGAACATTTTGAG 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(119;1230 1726 3901 4036 31644) NA NA 0 90 89 89 NA NA NA 8 NA NA 20075615 2203 4300 6503 SO:0001627 intron_variant L35249 CCDS6014.1 8p21.3 2010-04-21 2006-01-13 2002-05-10 ENSG00000147416 ENSG00000147416 526 3.6.3.14 ATPases / V-type 854 protein-coding gene gene with protein product 606939 ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 VPP3, ATP6B2 NA 2145275, 14580332 Standard NM_001693 NM_001693 NA Approved VATB, Vma2, HO57 uc003wzp.3 P21281 OTTHUMG00000131073 ENST00000276390.2:c.1267-49A>G chr8.hg19:g.20075615A>G NA B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0 hg19 CCDS6014.1 0.02 8.904428 CTGxACA COVERED NOVEL ATP6V1B2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253732.1 1 14.443504 KEEP 0 0 0 48 1504 AA 1 1 0 + 93 60 3286 0 0 307.422187 129 60 4458 348 ENST00000276390.2 0.418919 1 FZD3 7976 __UNKNOWN__ __UNKNOWN__ 8 28421574 28421574 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:28421574C>A ENST00000240093.3 + 0 3525 NM_017412.3 NP_059108.1 Q9NPG1 FZD3_HUMAN frizzled class receptor 3 NA NA canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786) G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TGCCCCACACCCTTATTTTCA 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ272427 CCDS6069.1 8p21 2014-06-27 2014-01-29 ENSG00000104290 ENSG00000104290 7976 GPCR / Class F : Frizzled receptors 4041 protein-coding gene gene with protein product 606143 frizzled (Drosophila) homolog 3, frizzled homolog 3 (Drosophila), frizzled 3, seven transmembrane spanning receptor, frizzled family receptor 3 NA 10777673, 10873558 Standard NM_145866 NM_145866 NA Approved uc010lvb.3 Q9NPG1 OTTHUMG00000102145 ENST00000240093.3:c.*1046C>A chr8.hg19:g.28421574C>A NA A8K615 hg19 CCDS6069.1 0.02 3.696304 CACxCTT COVERED NOVEL FZD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219986.2 0 6.921993 KEEP 0 0 0 23 769 CC 0.999892 0.999892 0 + 52 60 1722 0 0 155.729087 94 60 3222 196 ENST00000240093.3 0.356164 1 ASH2L 9070 __UNKNOWN__ __UNKNOWN__ 8 37964002 37964002 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:37964002G>T ENST00000343823.6 + 2 564 ASH2L_ENST00000428278.2_Intron|ASH2L_ENST00000545394.1_Intron|ASH2L_ENST00000521652.1_Intron|ASH2L_ENST00000250635.7_Intron NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) NA NA cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212) NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) AATAGGGTTTGTTTTAGTTAT 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 66 68 67 NA NA NA 8 NA NA 37964002 2203 4300 6503 SO:0001627 intron_variant AF056717 CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1 8p11.2 2013-01-28 2001-11-28 ENSG00000129691 ENSG00000129691 9070 Zinc fingers, PHD-type 744 protein-coding gene gene with protein product 604782 ash2 (absent, small, or homeotic, Drosophila, homolog)-like ASH2L1 NA 10393421 Standard NM_004674 NM_004674 NA Approved ASH2L2, ASH2, Bre2 uc003xkt.5 Q9UBL3 OTTHUMG00000164016 ENST00000343823.6:c.255+40G>T chr8.hg19:g.37964002G>T NA A8K7C3|D3DSW9|O60659|O60660|Q96B62 hg19 CCDS6101.1 0.02 3.186324 TTTxTTT COVERED NOVEL ASH2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376749.4 1 10.944928 KEEP 0 2 49 54 1684 GG 1 1 0 + 16 67 301 0 0 14.625171 170 70 5265 300 ENST00000343823.6 0.086022 1 C8orf86 389649 __UNKNOWN__ __UNKNOWN__ 8 38385763 38385763 __UNKNOWN__ Intron SNP G G A rs12549789 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:38385763G>A ENST00000358138.1 - 1 340 C8orf86_ENST00000437935.2_Intron NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 NA NA breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 CACACAATTGGTGACTCACAA 0.547 NA NA G||| 567 0.113219 0.0953 0.0836 5008 , , NA 20338 0.0476 NA 0.0755 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC137511 CCDS6108.1 8p12-p11.23 2009-03-03 ENSG00000196166 ENSG00000196166 389649 33774 protein-coding gene gene with protein product NA NA Standard NM_207412 NM_207412 NA Approved FLJ43582 uc003xlx.1 Q6ZUL3 OTTHUMG00000163992 ENST00000358138.1:c.315+77C>T chr8.hg19:g.38385763G>A NA A4QPB7 hg19 CCDS6108.1 0.02 1.97067 TTGxTGA COVERED NOVEL C8orf86-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376668.1 0 2.708069 KEEP 0 0 0 9 291 GG 0.99254 0.978797 0 - 32 60 1077 0 0 105.295802 27 60 929 68 ENST00000358138.1 0.542373 0.986153 ADAM9 8754 __UNKNOWN__ __UNKNOWN__ 8 38854456 38854456 __UNKNOWN__ 5'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:38854456G>A ENST00000466936.1 + 0 69 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 NA NA activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179) basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233) collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TGCTCGTCGGGCGCGCGTGCT 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U41766 CCDS6112.1 8p11.23 2011-03-18 2010-06-24 ENSG00000168615 ENSG00000168615 8754 ADAM metallopeptidase domain containing 216 protein-coding gene gene with protein product meltrin gamma 602713 a disintegrin and metalloproteinase domain 9 (meltrin gamma), cone rod dystrophy 9 CORD9 NA 8647900, 11581183, 19409519 Standard NR_027638 NA Approved MDC9, KIAA0021, MCMP, Mltng uc003xmr.3 Q13443 OTTHUMG00000159783 ENST00000466936.1:c.-127G>A chr8.hg19:g.38854456G>A NA B7ZLN7|Q10718|Q8NFM6 hg19 0.02 1.511836 CGGxCGC COVERED NOVEL ADAM9-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357293.1 2 20.162448 KEEP 0 0 0 67 2227 GG 1 0.999962 0 + 47 60 1543 0 0 146.713873 53 60 1779 191 ENST00000466936.1 0.47 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 40794162 40794162 __UNKNOWN__ IGR SNP A A G rs10958638 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:40794162A>G NA NA RP11-465K16.1 (34789 upstream) : RNU6-356P (96248 downstream) NA NA NA aaggaaggaaagaaggaagga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.40794162A>G NA hg19 0.02 -0.026318 GAAxGAA UNCOVERED NOVEL 0 3 2.397091 KEEP 5 0 0 8 221 AA 0 0 0 2 60 68 0 0 7.753859 0 0 0 15 1 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 41375921 41375921 __UNKNOWN__ IGR SNP A A G rs10441602 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:41375921A>G NA NA GOLGA7 (7422 upstream) : GINS4 (10803 downstream) NA NA NA ttgggaggccaaggcaggcag 0.527 NA NA G||| 1895 0.378395 0.7209 0.5375 5008 , , NA 17777 0.0595 NA 0.3648 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.41375921A>G NA hg19 0.02 -0.043866 GCCxAGG UNCOVERED NOVEL 0 0 2.407097 KEEP 2 0 0 8 245 AA 0 0 0 2 60 73 0 0 6.792805 3 60 107 19 0.4 0.024074 HGSNAT 138050 __UNKNOWN__ __UNKNOWN__ 8 43046483 43046483 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43046483G>A ENST00000379644.4 + 12 1170 HGSNAT_ENST00000521576.1_Intron|HGSNAT_ENST00000458501.2_Intron|HGSNAT_ENST00000297798.7_Intron NM_152419.2 NP_689632.2 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746) cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AGAACCTAACGTAGTCAGTAA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47852.1 8p11.1 2011-11-16 2006-09-05 2006-08-16 ENSG00000165102 ENSG00000165102 138050 2.3.1.78 26527 protein-coding gene gene with protein product 610453 transmembrane protein 76 TMEM76 NA 17033958, 16960811 Standard XM_372038 NM_152419 NA Approved FLJ32731, HGNAT uc003xpx.4 Q68CP4 OTTHUMG00000164102 ENST00000379644.4:c.1129-134G>A chr8.hg19:g.43046483G>A NA B4E2V0 hg19 CCDS47852.1 0.02 3.679104 AACxTAG COVERED NOVEL HGSNAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377293.1 1 3.309587 KEEP 0 0 0 11 331 GG 0.993072 0.993072 0 + 29 60 960 0 0 78.068616 119 60 3651 171 ENST00000379644.4 0.195946 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43793847 43793847 __UNKNOWN__ IGR SNP T T A rs8185976 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43793847T>A NA NA AC134698.1 (377931 upstream) : None (None downstream) NA NA NA aaacactctttttgtagtatc 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43793847T>A NA hg19 0.02 1.582118 CTTxTTG COVERED NOVEL 0 27 2.474949 KEEP 117 2 59 29 923 TT 0.997832 0.997713 0 23 22 723 0 0 71.367772 17 22 571 308 0.575 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43793941 43793941 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43793941G>C NA NA AC134698.1 (378025 upstream) : None (None downstream) NA NA NA agctatctcaggaacttgttt 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43793941G>C NA hg19 0.02 1.669302 TCAxGAA UNCOVERED NOVEL 0 5 3.611001 KEEP 86 0 0 12 406 GG 0 0 0 5 22 167 0 0 10.996304 74 40 2673 211 0.063291 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43821160 43821160 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43821160C>G NA NA AC134698.1 (405244 upstream) : None (None downstream) NA NA NA tgtttacattcaagtcacaga 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43821160C>G NA hg19 0.02 4.29644 ATTxAAG COVERED NOVEL 0 7 3.045728 KEEP 63 1 34 22 782 CC 0.994391 0.99439 0 5 22 191 0 0 12.442946 116 22 4403 287 0.041322 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43821181 43821181 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43821181C>A NA NA AC134698.1 (405265 upstream) : None (None downstream) NA NA NA gttgaacattccctttcacag 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43821181C>A NA hg19 0.02 3.291729 ATTxCCT COVERED NOVEL 0 7 6.320412 KEEP 46 0 0 21 723 CC 0.994391 0.99439 0 6 22 182 0 0 10.74844 116 22 4084 236 0.04918 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43822425 43822425 __UNKNOWN__ IGR SNP T T C rs200336493 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43822425T>C NA NA AC134698.1 (406509 upstream) : None (None downstream) NA NA NA agtggatatttggatagattt 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43822425T>C NA hg19 0.02 7.829997 ATTxGGA COVERED NOVEL 0 176 6.19237 KEEP 191 8 267 114 3518 TT 1 1 0 51 44 1777 0 1 159.217388 105 45 3571 651 0.326923 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43825830 43825830 __UNKNOWN__ IGR SNP A A T rs200099619 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43825830A>T NA NA AC134698.1 (409914 upstream) : None (None downstream) NA NA NA ggatatttggatagctttgag 0.408 NA NA .||| 2198 0.438898 0.4281 0.4481 5008 , , NA 649290 0.4395 NA 0.4155 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43825830A>T NA hg19 0.02 -0.210529 TGGxTAG UNCOVERED NOVEL 0 14 2.707736 KEEP 11 0 0 9 274 AA 0 0 0 5 25 173 0 0 16.393907 6 45 205 49 0.454545 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43827036 43827036 __UNKNOWN__ IGR SNP G G T rs28842553 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43827036G>T NA NA AC134698.1 (411120 upstream) : None (None downstream) NA NA NA tgaggatttcgttggaaacgg 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43827036G>T NA hg19 0.02 2.00031 TTCxTTG COVERED NOVEL 0 47 3.479838 KEEP 120 2 64 34 1125 GG 0.99257 0.98769 0 7 24 239 0 0 18.651657 40 40 1273 248 0.148936 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43828053 43828053 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43828053G>A NA NA AC134698.1 (412137 upstream) : None (None downstream) NA NA NA tgaggatttcgttggaaacgg 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43828053G>A NA hg19 0.02 6.077124 TTCxTTG COVERED NOVEL 0 21 12.072717 KEEP 63 1 31 51 1703 GG 1 1 0 13 45 469 0 2 33.035644 161 47 5535 411 0.074713 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43828055 43828055 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43828055T>G NA NA AC134698.1 (412139 upstream) : None (None downstream) NA NA NA aggatttcgttggaaacggga 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43828055T>G NA hg19 0.02 6.766394 CGTxGGA COVERED NOVEL 0 21 12.671604 KEEP 63 1 31 53 1638 TT 1 1 0 8 45 304 0 1 20.088178 168 47 5949 404 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43838684 43838684 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:43838684T>C NA NA AC134698.1 (422768 upstream) : None (None downstream) NA NA NA ttcccattcatagagcaggtt 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.43838684T>C NA hg19 0.02 4.262805 TCAxAGA COVERED NOVEL 0 13 5.717081 KEEP 33 0 0 19 587 TT 0.99649 0.99649 0 7 41 263 0 0 17.905994 119 43 4028 250 0.055556 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46839925 46839925 __UNKNOWN__ IGR SNP G G T rs4265203 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46839925G>T NA NA None (None upstream) : RNU6-656P (902746 downstream) NA NA NA tgaggatttcgttggaaacgg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46839925G>T NA hg19 0.02 -0.149127 TTCxTTG UNCOVERED NOVEL 0 2 2.407652 KEEP 16 0 0 8 267 GG 0 0 0 3 49 109 0 0 9.401102 9 52 289 47 0.25 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46841565 46841565 __UNKNOWN__ IGR SNP T T G rs62497234 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46841565T>G NA NA None (None upstream) : RNU6-656P (901106 downstream) NA NA NA agagcaggtttgaaacagtct 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46841565T>G NA hg19 0.02 1.853459 GTTxGAA COVERED NOVEL 0 2 3.008507 KEEP 17 0 0 10 304 TT 0.99257 0.983602 0 5 25 163 0 0 11.293084 53 45 1853 116 0.086207 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46841741 46841741 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46841741C>A NA NA None (None upstream) : RNU6-656P (900930 downstream) NA NA NA acttctggaacactctttttg 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46841741C>A NA hg19 0.02 8.147428 GAAxACT COVERED NOVEL 0 15 6.480858 KEEP 69 2 46 38 1246 CC 0.999997 0.999997 0 12 44 405 0 0 25.757474 219 60 7846 435 0.051948 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46841818 46841818 __UNKNOWN__ IGR SNP A A G rs4250210 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46841818A>G NA NA None (None upstream) : RNU6-656P (900853 downstream) NA NA NA acatgtaaaaattagacagca 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46841818A>G NA hg19 0.02 6.217971 AAAxTTA COVERED NOVEL 0 22 8.154159 KEEP 38 1 34 39 1169 AA 0.999988 0.999988 0 6 24 225 1 1 13.772354 186 46 6444 322 0.03125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46843703 46843703 __UNKNOWN__ IGR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46843703T>A NA NA None (None upstream) : RNU6-656P (898968 downstream) NA NA NA agcagcattctcagaaacttc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46843703T>A NA hg19 0.02 1.678169 TTCxCAG COVERED NOVEL 0 8 5.416233 KEEP 24 0 0 18 571 TT 0.997832 0.99724 0 4 47 141 0 0 9.378598 65 49 2299 173 0.057971 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46844190 46844190 __UNKNOWN__ IGR SNP C C T rs138982836 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46844190C>T NA NA None (None upstream) : RNU6-656P (898481 downstream) NA NA NA tatctacctacagaaactaga 0.413 NA NA .||| 1472 0.29393 0.3245 0.2594 5008 , , NA 4053787 0.2758 NA 0.3062 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46844190C>T NA hg19 0.02 7.593595 CTAxAGA COVERED NOVEL 0 14 8.728109 KEEP 98 0 0 29 1014 CC 0.995343 0.995343 0 12 20 374 0 0 23.793196 180 40 6419 374 0.0625 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46844208 46844208 __UNKNOWN__ IGR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46844208A>C NA NA None (None upstream) : RNU6-656P (898463 downstream) NA NA NA agacagaagcattctgagaat 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46844208A>C NA hg19 0.02 10.939034 AGCxTTC COVERED NOVEL 0 19 12.635654 KEEP 109 0 0 42 1251 AA 0.999863 0.999863 0 20 22 694 0 0 48.949713 223 40 7552 443 0.082305 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46844284 46844284 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46844284C>A NA NA None (None upstream) : RNU6-656P (898387 downstream) NA NA NA cagttttgaaccacacttttt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46844284C>A NA hg19 0.02 8.574815 GAAxCAC COVERED NOVEL 0 39 11.001593 KEEP 218 2 46 53 1833 CC 0.999859 0.999859 0 12 22 417 0 0 27.858827 183 25 6493 598 0.061538 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46845337 46845337 __UNKNOWN__ IGR SNP T T G rs574601996 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46845337T>G NA NA None (None upstream) : RNU6-656P (897334 downstream) NA NA NA aagtggacatttggagcgctt 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46845337T>G NA hg19 0.02 -0.368472 CATxTGG UNCOVERED NOVEL 0 4 4.513001 KEEP 55 0 0 15 458 TT 0 0 0 4 49 153 0 0 11.561909 36 55 1287 127 0.1 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46845436 46845436 __UNKNOWN__ IGR SNP T T A rs201561250 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46845436T>A NA NA None (None upstream) : RNU6-656P (897235 downstream) NA NA NA tgtcctcaactaaaggacttg 0.378 NA NA .||| 2593 0.517772 0.4871 0.549 5008 , , NA 351666 0.5347 NA 0.5408 False NA ,,, NA NA NA 2504 0.4959 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46845436T>A NA hg19 0.02 -0.122822 AACxAAA COVERED NOVEL 0 6 2.707962 KEEP 7 0 0 9 274 TT 0.99257 0.194853 0 3 25 102 0 0 9.555177 4 15 135 39 0.428571 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46849055 46849055 __UNKNOWN__ IGR SNP T T G rs149732780 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46849055T>G NA NA None (None upstream) : RNU6-656P (893616 downstream) NA NA NA actctttttgtagtatctgga 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46849055T>G NA hg19 0.02 2.131837 TTGxAGT UNCOVERED NOVEL 0 2 3.008337 KEEP 38 0 0 10 291 AT 0 0 0 50 40 1711 0 0 194.942152 0 0 0 104 1 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46849200 46849200 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46849200G>A NA NA None (None upstream) : RNU6-656P (893471 downstream) NA NA NA ttcgtttcatgcagtacttct 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46849200G>A NA hg19 0.02 3.295036 CATxCAG COVERED NOVEL 0 6 6.922365 KEEP 141 0 0 23 789 GG 0.99254 0.99254 0 5 22 168 0 0 10.007463 124 40 4433 325 0.03876 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46849310 46849310 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46849310C>G NA NA None (None upstream) : RNU6-656P (893361 downstream) NA NA NA gcagcattctcagaaacttct 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46849310C>G NA hg19 0.02 10.936064 TCTxAGA COVERED NOVEL 0 6 13.242724 KEEP 119 0 0 44 1527 CC 0.999957 0.999957 0 11 22 399 2 0 25.413729 247 43 9106 511 0.042636 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46849396 46849396 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46849396T>C NA NA None (None upstream) : RNU6-656P (893275 downstream) NA NA NA ctatttgtagtatctcgaagt 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46849396T>C NA hg19 0.02 8.375896 TAGxATC COVERED NOVEL 0 4 8.114897 KEEP 147 0 0 27 789 TT 0.99649 0.99649 0 13 40 434 0 0 28.708918 195 40 6494 434 0.0625 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46849401 46849401 __UNKNOWN__ IGR SNP C C G rs9721044 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:46849401C>G NA NA None (None upstream) : RNU6-656P (893270 downstream) NA NA NA tgtagtatctcgaagtggaca 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.46849401C>G NA hg19 0.02 6.327282 TCTxGAA COVERED NOVEL 0 4 4.54738 KEEP 149 1 31 26 822 CC 0.995343 0.995343 0 17 22 605 0 0 43.676504 175 40 5502 413 0.088542 1 PXDNL 137902 __UNKNOWN__ __UNKNOWN__ 8 52232145 52232145 __UNKNOWN__ 3'UTR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:52232145A>T ENST00000356297.4 - 0 4798 PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like NA NA hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114) cytoplasm (GO:0005737)|extracellular space (GO:0005615) endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TATATTTTTTAAATATTCCAT 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS47855.1 8q11.21-q11.22 2013-02-18 2007-01-12 ENSG00000147485 ENSG00000147485 137902 Immunoglobulin superfamily / I-set domain containing 26359 protein-coding gene gene with protein product polysomal ribonuclease 1 homolog (Xenopus) 615904 peroxidasin homolog-like (Drosophila) NA 22543864 Standard NM_144651 NM_144651 NA Approved FLJ25471, PMR1 uc003xqu.4 A1KZ92 OTTHUMG00000164244 ENST00000356297.4:c.*306T>A chr8.hg19:g.52232145A>T NA B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9 hg19 CCDS47855.1 0.02 5.903746 TTTxAAT COVERED NOVEL PXDNL-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377905.1 0 2.707873 KEEP 0 0 0 9 272 AA 0.99254 0.99254 0 - 39 60 1303 0 0 108.279065 139 60 4734 227 ENST00000356297.4 0.219101 1 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52733003 52733003 __UNKNOWN__ Missense_Mutation SNP C C T rs79195845 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:52733003C>T ENST00000360540.5 - 7 1388 c.982G>A c.(982-984)Gag>Aag p.E328K PCMTD1_ENST00000522514.1_Missense_Mutation_p.E328K|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.E252K NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 328 NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TGAGGTGGCTCCTCTGGCTTC 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 94 83 86 NA NA NA 8 NA NA 52733003 2203 4300 6503 SO:0001583 missense CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.982G>A chr8.hg19:g.52733003C>T ENSP00000353739:p.Glu328Lys NA Q96FK9 hg19 CCDS6148.1 0.02 9.98166 GCTxCTC COVERED . . . . . . . . . . C 15.25 2.777008 0.49786 . . ENSG00000168300 ENST00000360540;ENST00000544451;ENST00000522514 T;T;T 0.47177 1.48;0.85;1.48 5.97 4.17 0.49024 . 0.733162 0.13977 N 0.349755 T 0.32882 0.0844 N 0.21142 0.635 0.45662 D 0.998587 B;P;B 0.42296 0.031;0.775;0.03 B;B;B 0.36464 0.006;0.225;0.021 T 0.03202 -1.1061 10 0.38643 T 0.18 -22.5428 12.1581 0.54089 0.0:0.8075:0.127:0.0655 . 198;252;328 B4E2B4;F5H1M8;Q96MG8 .;.;PCMD1_HUMAN K 328;252;328 ENSP00000353739:E328K;ENSP00000444026:E252K;ENSP00000428099:E328K ENSP00000353739:E328K E - 1 0 PCMTD1 52895556 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.083000 0.50136 0.842000 0.35045 0.655000 0.94253 GAG NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 1 4.247659 KEEP 1 1 31 25 826 CC 0.999957 0.999957 0 - 9 49 324 0 0 19.746757 249 60 8926 356 ENST00000360540.5 0.034884 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 64048033 64048033 __UNKNOWN__ IGR SNP C C T rs377314274 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:64048033C>T NA NA TTPA (49421 upstream) : YTHDF3-AS1 (32250 downstream) NA NA NA ATGACGAAttctttttttttt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.64048033C>T NA hg19 0.02 1.282714 ATTxTTT COVERED NOVEL 0 3 4.484542 KEEP 0 0 0 15 461 CC 0.99649 0.993226 0 11 60 194 0 1 11.986212 55 60 1655 135 0.166667 0.996724 LRRCC1 85444 __UNKNOWN__ __UNKNOWN__ 8 86042337 86042337 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:86042337G>A ENST00000360375.3 + 11 1915 LRRCC1_ENST00000414626.2_Intron NM_033402.4 NP_208325.3 Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 NA NA mitotic nuclear division (GO:0007067) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 TTTAAAAAAAGAAAAAGAAAG 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 33 31 31 NA NA NA 8 NA NA 86042337 1814 4060 5874 SO:0001627 intron_variant BC030701 CCDS43750.1 8q21.2 2012-04-10 2012-04-10 ENSG00000133739 ENSG00000133739 85444 29373 protein-coding gene gene with protein product centrosomal leucine-rich repeat and coiled-coil containing protein, variable number of flagella 1 homolog (Chlamydomonas) NA leucine rich repeat and coiled-coil domain containing 1 NA 11214970, 18728398 Standard NM_033402 NM_033402 NA Approved KIAA1764, CLERC, VFL1 uc003ycw.3 Q9C099 OTTHUMG00000164784 ENST00000360375.3:c.1766+44G>A chr8.hg19:g.86042337G>A NA B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01 hg19 CCDS43750.1 0.02 1.941354 AAAxAAA COVERED NOVEL LRRCC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380267.1 2 3.370228 KEEP 0 2 30 22 711 GG 0.999909 0.999909 0 + 19 60 236 0 0 9.860801 125 60 4025 185 ENST00000360375.3 0.131944 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 86568090 86568090 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:86568090C>T NA NA RP11-317J10.4 (115350 upstream) : REXO1L1 (604 downstream) NA NA NA ACGGACGATTCGCTTAGAGCT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.86568090C>T NA hg19 0.02 7.397056 ATTxGCT COVERED NOVEL 0 0 3.542549 KEEP 1 1 29 22 657 CC 0.999892 0.999892 0 9 42 316 0 0 19.139732 237 60 7355 299 0.036585 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 86568102 86568102 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:86568102G>A NA NA RP11-317J10.4 (115362 upstream) : REXO1L1 (592 downstream) NA NA NA CTTAGAGCTGGTGGTGGCGGT 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.86568102G>A NA hg19 0.02 5.543952 CTGxTGG COVERED NOVEL 0 0 2.941755 KEEP 2 1 29 20 665 GG 0.999863 0.999863 0 7 42 238 0 0 14.216845 178 60 6248 231 0.037838 1 SLC7A13 157724 __UNKNOWN__ __UNKNOWN__ 8 87235065 87235065 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:87235065C>A ENST00000297524.3 - 2 921 SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 NA NA integral component of membrane (GO:0016021) amino acid transmembrane transporter activity (GO:0015171) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CTTTGGCCCTCTGTTATTTTA 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ417661 CCDS34917.1 8q21.3 2013-07-15 2011-07-12 ENSG00000164893 ENSG00000164893 157724 Solute carriers 23092 protein-coding gene gene with protein product NA NA 11907033, 11943479 Standard NM_138817 XM_005250804 NA Approved AGT-1, XAT2 uc003ydq.1 Q8TCU3 OTTHUMG00000163663 ENST00000297524.3:c.817+135G>T chr8.hg19:g.87235065C>A NA Q05C37|Q08AH9|Q96N84 hg19 CCDS34917.1 0.02 3.809782 CCTxTGT COVERED NOVEL SLC7A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374704.1 0 2.407395 KEEP 0 0 0 8 255 CC 0.99257 0.99257 0 - 51 60 1703 0 0 156.173363 82 60 2950 144 ENST00000297524.3 0.383459 1 WWP1 11059 __UNKNOWN__ __UNKNOWN__ 8 87393753 87393753 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:87393753A>G ENST00000517970.1 + 5 536 c.229A>G c.(229-231)Aca>Gca p.T77A WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Missense_Mutation_p.T77A|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000265428.4_Missense_Mutation_p.T77A NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 77 C2. {ECO:0000255|PROSITE- ProRule:PRU00041}. NA central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) p.T77A(1) endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 GCCACAGACTACATTGGAATT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) endometrium(1) 76 78 77 NA NA NA 8 NA NA 87393753 2203 4300 6503 SO:0001583 missense AY043361 CCDS6242.1 8q21.3 2013-07-22 ENSG00000123124 ENSG00000123124 11059 17004 protein-coding gene gene with protein product 602307 NA 9169421, 9647693 Standard NM_007013 NM_007013 NA Approved AIP5, DKFZP434D2111 uc003ydt.3 Q9H0M0 OTTHUMG00000163690 ENST00000517970.1:c.229A>G chr8.hg19:g.87393753A>G ENSP00000427793:p.Thr77Ala NA O00307|Q5YLC1|Q96BP4 hg19 CCDS6242.1 0.02 2.300373 ACTxCAT COVERED . . . . . . . . . . A 7.139 0.581496 0.13686 . . ENSG00000123124 ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619 T;T;T 0.68903 -0.36;-0.36;-0.36 4.83 4.83 0.62350 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.410658 0.27354 N 0.019757 T 0.57533 0.2060 L 0.32530 0.975 0.80722 D 1 B 0.25312 0.123 B 0.29353 0.101 T 0.54906 -0.8223 10 0.32370 T 0.25 . 14.6957 0.69121 1.0:0.0:0.0:0.0 . 77 Q9H0M0 WWP1_HUMAN A 77 ENSP00000427793:T77A;ENSP00000265428:T77A;ENSP00000340564:T77A ENSP00000265428:T77A T + 1 0 WWP1 87462869 0.957000 0.32711 0.093000 0.20910 0.789000 0.44602 3.911000 0.56378 1.924000 0.55735 0.383000 0.25322 ACA NOVEL WWP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374755.1 0 2.706067 KEEP 0 0 0 9 253 AA 0.99254 0.98766 0 + 20 60 726 0 0 64.419634 47 60 1488 84 ENST00000517970.1 0.298507 0.995084 LRRC69 100130742 __UNKNOWN__ __UNKNOWN__ 8 92171155 92171155 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:92171155A>G ENST00000448384.2 + 5 651 LRRC69_ENST00000343709.3_Intron NM_001129890.1 NP_001123362.1 Q6ZNQ3 LRC69_HUMAN leucine rich repeat containing 69 NA NA endometrium(1) 1 TTGCAAATGGAAACATCAACA 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK130865 8q21.3 2010-07-14 ENSG00000214954 ENSG00000214954 100130742 34303 protein-coding gene gene with protein product NA NA Standard NM_001129890 NM_001129890 NA Approved uc010mal.1 Q6ZNQ3 OTTHUMG00000164023 ENST00000448384.2:c.651+23188A>G chr8.hg19:g.92171155A>G NA hg19 0.02 21.300882 TGGxAAC COVERED NOVEL LRRC69-007 NOVEL not_organism_supported|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000415207.1 1 6.017626 KEEP 0 0 0 20 612 AA 0.999863 0.999863 0 + 95 60 3364 0 0 274.294089 426 60 14858 658 ENST00000448384.2 0.182342 1 PABPC1 26986 __UNKNOWN__ __UNKNOWN__ 8 101717832 101717832 __UNKNOWN__ Missense_Mutation SNP G G C rs75035099 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:101717832G>C ENST00000318607.5 - 12 2800 c.1672C>G c.(1672-1674)Caa>Gaa p.Q558E PABPC1_ENST00000519004.1_Missense_Mutation_p.Q513E|PABPC1_ENST00000522387.1_Missense_Mutation_p.Q526E NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 558 PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}. NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494) breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) ATTTGCTTTTGCTCTTGAGGA 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 59 51 54 NA NA NA 8 NA NA 101717832 2203 4300 6503 SO:0001583 missense Y00345 CCDS6289.1 8q22.2-q23 2013-02-12 2004-04-20 ENSG00000070756 ENSG00000070756 26986 RNA binding motif (RRM) containing 8554 protein-coding gene gene with protein product 604679 poly(A)-binding protein, cytoplasmic 2 PAB1, PABPC2 NA 2885805 Standard NM_002568 XM_005250861 NA Approved PABP1, PABPL1 uc003yjs.1 P11940 OTTHUMG00000164779 ENST00000318607.5:c.1672C>G chr8.hg19:g.101717832G>C ENSP00000313007:p.Gln558Glu NA Q15097|Q93004 hg19 CCDS6289.1 0.02 14.380969 TTTxCTC COVERED 245|245 0.11217948717948718|0.11217948717948718 94|94 0.1910569105691057|0.1910569105691057 30|30 0.08287292817679558|0.08287292817679558 48|48 0.08391608391608392|0.08391608391608392 73|73 0.09630606860158311|0.09630606860158311 G|G 28.4|28.4 4.918584|4.918584 0.92249|0.92249 .|. .|. ENSG00000070756|ENSG00000070756 ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658|ENST00000520868 T;T;T;T;T|. 0.55760|. 0.5;0.5;0.5;0.5;0.5|. 5.75|5.75 5.75|5.75 0.90469|0.90469 Polyadenylate-binding protein/Hyperplastic disc protein (5);|. 0.000000|. 0.64402|. D|. 0.000007|. T|T 0.00724|0.00724 0.0024|0.0024 H|H 0.94183|0.94183 3.505|3.505 0.80722|0.80722 D|D 1|1 D;P;B|. 0.63880|. 0.993;0.573;0.316|. D;P;P|. 0.71414|. 0.973;0.453;0.453|. T|T 0.43048|0.43048 -0.9415|-0.9415 10|5 0.87932|. D|. 0|. .|. 19.907|19.907 0.97012|0.97012 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 526;558;558|. E7ERJ7;B3KT93;P11940|. .;.;PABP1_HUMAN|. E|R 558;469;513;526;67;105|90 ENSP00000313007:Q558E;ENSP00000429594:Q513E;ENSP00000429395:Q526E;ENSP00000428030:Q67E;ENSP00000428840:Q105E|. ENSP00000313007:Q558E|. Q|S -|- 1|3 0|2 PABPC1|PABPC1 101787008|101787008 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 9.789000|9.789000 0.99068|0.99068 2.880000|2.880000 0.98712|0.98712 0.655000|0.655000 0.94253|0.94253 CAA|AGC NOVEL PABPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380217.1 22 7.45874 KEEP 1 1 32 36 1237 GG 1 1 0 - 18 54 645 0 0 42.069371 342 60 12603 482 ENST00000318607.5 0.05 1 DCAF13 25879 __UNKNOWN__ __UNKNOWN__ 8 104427827 104427827 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:104427827G>T ENST00000297579.5 + 1 803 DCAF13_ENST00000519682.1_Intron|DCAF13_ENST00000521971.1_Intron|DCAF13_ENST00000521716.1_Intron|DCAF13_ENST00000521999.1_Intron NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 NA NA protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 AAAGCCGGGGGAGGCTGGCAC 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074725 CCDS34934.1 8q22.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000164934 ENSG00000164934 25879 WD repeat domain containing, DDB1 and CUL4 associated factors 24535 protein-coding gene gene with protein product NA WD repeats and SOF1 domain containing WDSOF1 NA 11042152 Standard NM_015420 NM_015420 NA Approved DKFZP564O0463, Gm83, HSPC064 uc003yln.3 Q9NV06 OTTHUMG00000164888 ENST00000297579.5:c.526+83G>T chr8.hg19:g.104427827G>T NA Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3 hg19 CCDS34934.1 0.02 -0.429858 GGGxAGG COVERED NOVEL DCAF13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380797.2 2 2.708326 KEEP 0 0 0 9 286 GG 0.99254 0.947371 0 + 12 60 386 0 0 32.48016 37 60 1318 64 ENST00000297579.5 0.244898 0.954491 CSMD3 114788 __UNKNOWN__ __UNKNOWN__ 8 113243818 113243818 __UNKNOWN__ Missense_Mutation SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:113243818A>T ENST00000297405.5 - 69 11028 c.10784T>A c.(10783-10785)tTt>tAt p.F3595Y CSMD3_ENST00000352409.3_Missense_Mutation_p.F3525Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.F3426Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.F3555Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3595 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GCCTTGAATAAATCCTTGAAA 0.338 NA NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 125 135 131 NA NA NA 8 NA NA 113243818 2203 4300 6503 SO:0001583 missense AY210419 CCDS6315.1, CCDS6316.2, CCDS6317.1 8q23.3 2007-01-06 ENSG00000164796 ENSG00000164796 114788 19291 protein-coding gene gene with protein product 608399 NA Standard NM_052900 NM_052900 NA Approved uc003ynu.3 Q7Z407 OTTHUMG00000157027 ENST00000297405.5:c.10784T>A chr8.hg19:g.113243818A>T ENSP00000297405:p.Phe3595Tyr NA Q96PZ3 hg19 CCDS6315.1 0.02 10.606435 ATAxATC COVERED . . . . . . . . . . A 21.4 4.148975 0.78001 . . ENSG00000164796 ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409 T;T;T;T;T 0.24908 2.15;2.14;2.16;1.83;2.16 5.15 5.15 0.70609 . 0.000000 0.85682 D 0.000000 T 0.32675 0.0837 L 0.59436 1.845 0.37646 D 0.922215 D;P;B 0.53745 0.962;0.888;0.069 P;B;B 0.50314 0.637;0.342;0.108 T 0.19484 -1.0304 10 0.35671 T 0.21 . 9.8659 0.41142 0.9236:0.0:0.0764:0.0 . 3426;3595;3555 Q7Z407-3;Q7Z407;Q7Z407-2 .;CSMD3_HUMAN;. Y 3555;3595;2865;3426;3525 ENSP00000345799:F3555Y;ENSP00000297405:F3595Y;ENSP00000341558:F2865Y;ENSP00000412263:F3426Y;ENSP00000343124:F3525Y ENSP00000297405:F3595Y F - 2 0 CSMD3 113312994 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 5.084000 0.64462 2.293000 0.77203 0.477000 0.44152 TTT NOVEL CSMD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347141.1 1 3.300783 KEEP 0 0 0 11 340 AA 0.993072 0.993072 0 - 39 60 1376 0 0 108.067109 227 60 8037 347 ENST00000297405.5 0.146617 1 DEPTOR 64798 __UNKNOWN__ __UNKNOWN__ 8 121015181 121015181 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:121015181C>A ENST00000286234.5 + 6 920 DEPTOR_ENST00000523492.1_Intron|DEPTOR_ENST00000518057.1_Intron NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein NA NA intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236) intracellular (GO:0005622) endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 GAGACCACCCCCTTGGTGACT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 26 19 21 NA NA NA 8 NA NA 121015181 2100 4144 6244 SO:0001627 intron_variant CCDS6331.1, CCDS64960.1 8q24.12 2011-12-13 2010-12-08 2010-12-08 ENSG00000155792 ENSG00000155792 64798 22953 protein-coding gene gene with protein product 612974 DEP domain containing 6 DEPDC6 NA 19446321 Standard NM_022783 NM_022783 NA Approved DEP.6, FLJ12428 uc003yow.4 Q8TB45 OTTHUMG00000165052 ENST00000286234.5:c.791-35C>A chr8.hg19:g.121015181C>A NA B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07 hg19 CCDS6331.1 0.02 8.009967 CCCxCTT COVERED NOVEL DEPTOR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381601.1 0 10.891454 KEEP 0 1 10 40 1320 CC 1 1 0 + 43 60 1424 0 0 114.645813 189 60 6576 329 ENST00000286234.5 0.185345 1 COL14A1 7373 __UNKNOWN__ __UNKNOWN__ 8 121383405 121383405 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:121383405C>G ENST00000297848.3 + 48 5596 c.5326C>G c.(5326-5328)Cag>Gag p.Q1776E COL14A1_ENST00000247781.3_Missense_Mutation_p.Q1681E NM_021110.1 NP_066933.1 collagen, type XIV, alpha 1 NA NA NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCATCCAGATCAGCCAGAGTT 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 131 125 127 NA NA NA 8 NA NA 121383405 2203 4300 6503 SO:0001583 missense CCDS34938.1 8q23 2013-02-11 2008-02-04 ENSG00000187955 ENSG00000187955 7373 Collagens, Fibronectin type III domain containing 2191 protein-coding gene gene with protein product 120324 undulin UND NA 1716629, 9427527 Standard NM_021110 NM_021110 NA Approved uc003yox.4 Q05707 OTTHUMG00000149877 ENST00000297848.3:c.5326C>G chr8.hg19:g.121383405C>G ENSP00000297848:p.Gln1776Glu NA hg19 CCDS34938.1 0.02 29.618264 GATxAGC COVERED . . . . . . . . . . C 10.50 1.367767 0.24771 . . ENSG00000187955 ENST00000297848;ENST00000247781 D;D 0.86562 -2.05;-2.14 5.34 4.46 0.54185 . 0.119023 0.56097 D 0.000025 T 0.80460 0.4627 L 0.34521 1.04 0.80722 D 1 B 0.09022 0.002 B 0.06405 0.002 T 0.74478 -0.3652 10 0.23891 T 0.37 . 14.335 0.66584 0.0:0.8521:0.1479:0.0 . 1776 Q05707 COEA1_HUMAN E 1776;1681 ENSP00000297848:Q1776E;ENSP00000247781:Q1681E ENSP00000247781:Q1681E Q + 1 0 COL14A1 121452586 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 2.008000 0.40893 1.481000 0.48307 0.655000 0.94253 CAG NOVEL COL14A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313657.2 2 15.046366 KEEP 0 0 0 50 1664 CC 1 1 0 + 59 60 2154 0 0 155.827628 639 60 23139 884 ENST00000297848.3 0.084527 1 FAM83A 84985 __UNKNOWN__ __UNKNOWN__ 8 124219337 124219337 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:124219337A>C ENST00000518448.1 + 5 2787 FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Intron Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A NA NA breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) ctcctcctccActtcccctcc 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC052300 CCDS6339.1, CCDS6340.1, CCDS75784.1 8q24.13 2014-03-13 ENSG00000147689 ENSG00000147689 84985 28210 protein-coding gene gene with protein product NA NA 22886303 Standard NM_032899 XM_005251087 NA Approved MGC14128, BJ-TSA-9 uc003ypx.3 Q86UY5 OTTHUMG00000165083 ENST00000518448.1:c.774-60A>C chr8.hg19:g.124219337A>C NA Q71HL2|Q8N7I1|Q96I47 hg19 CCDS6340.1 0.02 0.984879 TCCxCTT COVERED NOVEL FAM83A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381737.1 2 2.387701 KEEP 0 0 0 8 187 AA 0.99257 0.991982 0 + 11 60 174 1 0 9.196089 71 60 1947 129 ENST00000518448.1 0.134146 0.999407 WDYHV1 55093 __UNKNOWN__ __UNKNOWN__ 8 124452703 124452703 __UNKNOWN__ Intron SNP G G A rs6415480 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:124452703G>A ENST00000523356.1 + 7 650 WDYHV1_ENST00000287387.2_Intron|WDYHV1_ENST00000523984.1_Intron|WDYHV1_ENST00000517609.1_Intron|WDYHV1_ENST00000518125.1_Intron Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 NA NA cellular protein modification process (GO:0006464) cytosol (GO:0005829)|nucleus (GO:0005634) protein-N-terminal glutamine amidohydrolase activity (GO:0070773) endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3) 17 gcTGCTTTTCGTCTTTCTGAG 0.498 NA NA A||| 2056 0.410543 0.3434 0.3919 5008 , , NA 16000 0.5863 NA 0.3131 False NA ,,, NA NA NA 2504 0.4335 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001066 CCDS6344.1, CCDS64965.1 8q24.13 2008-10-01 2008-10-01 2008-10-01 ENSG00000156795 55093 25490 protein-coding gene gene with protein product NA chromosome 8 open reading frame 32 C8orf32 NA 12477932 Standard NM_018024 NM_018024 NA Approved FLJ10204 uc003yqn.1 Q96HA8 ENST00000523356.1:c.589-843G>A chr8.hg19:g.124452703G>A NA B4DE68|Q9NW95 hg19 0.02 -0.078954 TTCxTCT UNCOVERED NOVEL WDYHV1-009 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000381779.1 4 2.407111 KEEP 0 0 0 8 253 GG 0.99257 0.076761 0 + 7 60 241 0 0 25.368793 2 60 66 21 ENST00000523356.1 0.777778 0.077336 COL22A1 169044 __UNKNOWN__ __UNKNOWN__ 8 139642890 139642890 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:139642890A>C ENST00000303045.6 - 50 4110 COL22A1_ENST00000435777.1_Intron|COL22A1_ENST00000341807.4_Intron NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 NA NA extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGTTCCAGAAAGGCTAAAGA 0.473 NA NA HNSCC(7;0.00092) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 83 83 83 NA NA NA 8 NA NA 139642890 2203 4300 6503 SO:0001627 intron_variant AF406780 CCDS6376.1 8q24.3 2013-01-16 ENSG00000169436 ENSG00000169436 169044 Collagens 22989 protein-coding gene gene with protein product 610026 NA Standard XM_291257 NM_152888 NA Approved uc003yvd.3 Q8NFW1 OTTHUMG00000150035 ENST00000303045.6:c.3663+47T>G chr8.hg19:g.139642890A>C NA B7ZMH0|C9K0G4|Q8IVT9 hg19 CCDS6376.1 0.02 6.554413 AGAxAGG COVERED NOVEL COL22A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000315905.2 0 3.610668 KEEP 0 0 0 12 368 AA 0.993634 0.993634 0 - 17 60 620 0 0 46.069263 154 60 5390 208 ENST00000303045.6 0.099415 1 PTK2 5747 __UNKNOWN__ __UNKNOWN__ 8 141888511 141888511 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:141888511C>G ENST00000522684.1 - 4 592 PTK2_ENST00000395218.2_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000521059.1_Intron NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570) apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725) actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) tctgtctgggcaacatgctga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L13616 CCDS6381.1, CCDS56557.1 8q24.3 2013-02-18 2013-02-18 ENSG00000169398 ENSG00000169398 5747 2.7.10.1 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9611 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 71 600758 PTK2 protein tyrosine kinase 2 NA 8422239 Standard NM_005607 NM_153831 NA Approved FAK, FADK, FAK1, PPP1R71 uc003yvt.3 Q05397 OTTHUMG00000067438 ENST00000522684.1:c.362+1058G>C chr8.hg19:g.141888511C>G NA B4E2N6|F5H4S4|Q14291|Q9UD85 hg19 CCDS6381.1 0.02 -0.096505 GGGxAAC UNCOVERED NOVEL PTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378054.5 0 2.407889 KEEP 0 0 0 8 284 CC 0.99257 0.119541 0 - 3 60 106 0 0 9.232179 8 60 293 23 ENST00000522684.1 0.272727 0.120436 MROH5 389690 __UNKNOWN__ __UNKNOWN__ 8 142517227 142517227 __UNKNOWN__ RNA SNP C C A rs2613648 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:142517227C>A ENST00000430863.1 - 0 103 NM_207414.2 NP_997297.2 Q6ZUA9 MROH5_HUMAN maestro heat-like repeat family member 5 NA NA NA GCTGTATGGCCTTTCAGAACA 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 89 94 92 NA NA NA 8 NA NA 142517227 2119 4224 6343 8q24.3 2012-12-20 ENSG00000226807 ENSG00000226807 389690 maestro heat-like repeat containing 42976 protein-coding gene gene with protein product NA NA Standard NM_207414 NM_207414 NA Approved FLJ43860 uc003ywi.2 Q6ZUA9 OTTHUMG00000155944 ENST00000430863.1: chr8.hg19:g.142517227C>A NA hg19 0.02 14.560306 GGCxTTT COVERED NOVEL MROH5-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000342412.4 2 9.886519 KEEP 0 0 0 33 1146 CC 0.999998 0.999998 0 - 78 60 2724 0 0 228.03552 281 70 10069 520 ENST00000430863.1 0.21727 1 LY6K 54742 __UNKNOWN__ __UNKNOWN__ 8 143785858 143785858 __UNKNOWN__ 3'UTR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:143785858T>A ENST00000292430.6 + 0 1984 CTD-2292P10.4_ENST00000520572.1_RNA Q17RY6 LY6K_HUMAN lymphocyte antigen 6 complex, locus K NA NA anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4) 10 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) attgaaactctcacaaaactg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092545 CCDS6385.1, CCDS6385.2, CCDS59114.1 8q24.3 2009-08-06 ENSG00000160886 54742 24225 protein-coding gene gene with protein product cancer/testis antigen 97 615093 NA 12516096 Standard NM_017527 NM_017527 NA Approved HSJ001348, FLJ35226, CT97 uc011ljv.2 Q17RY6 ENST00000292430.6:c.*1069T>A chr8.hg19:g.143785858T>A NA G3V116|O15227|Q9BVD7 hg19 CCDS6385.2 0.02 10.202341 CTCxCAC COVERED NOVEL LY6K-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379893.2 0 6.018935 KEEP 0 0 0 20 653 TT 0.999863 0.999863 0 + 56 60 1922 0 0 158.374406 221 60 7888 390 ENST00000292430.6 0.202166 1 CYP11B2 1585 __UNKNOWN__ __UNKNOWN__ 8 143994903 143994903 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:143994903C>G ENST00000323110.2 - 6 957 NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 NA NA aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507) cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421) AGACCTTGCACAGGAGGACTC 0.612 NA NA Familial Hyperaldosteronism type I NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 43 39 40 NA NA NA 8 NA NA 143994903 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database Dexamethasone Sensitive Aldosteronism, FH-I X54741 CCDS6393.1 8q21-q22 2013-06-19 2003-01-14 ENSG00000179142 ENSG00000179142 1585 1.14.15.4 Cytochrome P450s 2592 protein-coding gene gene with protein product steroid 11-beta-monooxygenase 124080 cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2 CYP11B NA 1303253 Standard NM_000498 NA Approved CYP11BL, CPN2, P-450C18, P450aldo, ALDOS uc003yxk.1 P19099 OTTHUMG00000160254 ENST00000323110.2:c.955-36G>C chr8.hg19:g.143994903C>G NA B0ZBE4|Q16726 hg19 CCDS6393.1 0.02 27.646012 GCAxAGG COVERED NOVEL CYP11B2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359904.1 1 10.830607 KEEP 0 0 0 36 1246 CC 0.999999 0.999999 0 - 138 60 5009 0 0 423.248371 489 60 17911 799 ENST00000323110.2 0.220096 1 ZNF707 286075 __UNKNOWN__ __UNKNOWN__ 8 144772288 144772288 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:144772288G>T ENST00000532205.1 + 5 909 c.10G>T c.(10-12)Gcc>Tcc p.A4S ZNF707_ENST00000358656.4_Missense_Mutation_p.A4S|ZNF707_ENST00000532158.1_Missense_Mutation_p.A4S|ZNF707_ENST00000418203.2_Missense_Mutation_p.A4S|ZNF707_ENST00000454097.1_Missense_Mutation_p.A4S|ZNF707_ENST00000442058.2_Missense_Mutation_p.A4S Q96C28 ZN707_HUMAN zinc finger protein 707 4 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CATGGACATGGCCCAGGTGAG 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 44 49 47 NA NA NA 8 NA NA 144772288 2085 4217 6302 SO:0001583 missense AK001126 CCDS47932.1 8q24.3 2013-01-08 ENSG00000181135 286075 Zinc fingers, C2H2-type, - 27815 protein-coding gene gene with protein product NA NA 12477932 Standard NM_173831 NM_173831 NA Approved uc010mfi.3 Q96C28 ENST00000532205.1:c.10G>T chr8.hg19:g.144772288G>T ENSP00000436212:p.Ala4Ser NA A8K317|B3KNY1|D3DWK7 hg19 CCDS47932.1 0.02 23.4486 ATGxCCC COVERED . . . . . . . . . . G 7.087 0.571298 0.13623 . . ENSG00000181135 ENST00000454097;ENST00000534303;ENST00000529833;ENST00000530574;ENST00000358656;ENST00000526970;ENST00000532158;ENST00000532205;ENST00000418203 T;T;T;T;T;T;T;T;T 0.00768 5.72;5.72;5.72;5.72;5.72;5.72;5.72;5.72;5.72 1.66 -3.33 0.04958 Krueppel-associated box (1); . . . . T 0.00384 0.0012 N 0.04116 -0.275 0.09310 N 0.99999 B 0.06786 0.001 B 0.01281 0.0 T 0.41142 -0.9525 9 0.12430 T 0.62 . 3.852 0.08959 0.0:0.4548:0.246:0.2992 . 4 Q96C28 ZN707_HUMAN S 4 ENSP00000409029:A4S;ENSP00000437134:A4S;ENSP00000434503:A4S;ENSP00000436362:A4S;ENSP00000351482:A4S;ENSP00000436634:A4S;ENSP00000436250:A4S;ENSP00000436212:A4S;ENSP00000413215:A4S ENSP00000351482:A4S A + 1 0 ZNF707 144844276 0.000000 0.05858 0.399000 0.26333 0.145000 0.21501 -1.040000 0.03546 -1.054000 0.03214 -0.457000 0.05445 GCC NOVEL ZNF707-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382197.1 3 27.620669 KEEP 0 0 0 92 3090 GG 1 1 0 + 150 60 5044 0 0 426.099513 478 60 16836 910 ENST00000532205.1 0.238854 1 EPPK1 83481 __UNKNOWN__ __UNKNOWN__ 8 144947098 144947098 __UNKNOWN__ Silent SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:144947098C>A ENST00000525985.1 - 2 395 c.324G>T c.(322-324)ctG>ctT p.L108L P58107 EPIPL_HUMAN epiplakin 1 108 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTTCTCCTTCAGCTCCAGCC 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 27 25 NA NA NA 8 NA NA 144947098 2034 4183 6217 SO:0001819 synonymous_variant AB051895 CCDS75800.1 8q24.3 2014-09-17 ENSG00000261150 83481 15577 protein-coding gene gene with protein product epidermal autoantigen 450K 607553 NA 11278896, 15671067 Standard NM_031308 NM_031308 NA Approved EPIPL1 uc003zaa.1 P58107 ENST00000525985.1:c.324G>T chr8.hg19:g.144947098C>A NA Q76E58|Q9NSU9 hg19 0.02 11.64547 CTTxAGC COVERED NOVEL EPPK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000382675.1 2 5.691826 KEEP 0 0 0 19 616 CC 0.99986 0.99986 0 - 64 60 2147 0 0 174.862198 265 60 9596 401 ENST00000525985.1 0.194529 1 CYHR1 50626 __UNKNOWN__ __UNKNOWN__ 8 145690627 145690627 __UNKNOWN__ De_novo_Start_OutOfFrame SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:145690627C>T ENST00000403000.2 - 0 245 CYHR1_ENST00000306145.5_Intron|CYHR1_ENST00000424149.2_Intron NM_032687.3 NP_116076.1 Q6ZMK1 CYHR1_HUMAN cysteine/histidine-rich 1 NA NA cytoplasm (GO:0005737)|nuclear envelope (GO:0005635) zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2) 7 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TGCAGGCCCACGCGGCGGCCT 0.736 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AB007965 CCDS6426.1, CCDS47943.1 8q24 2004-12-07 2005-07-24 ENSG00000187954 ENSG00000187954 50626 17806 protein-coding gene gene with protein product NA cysteine and histidine rich 1 NA 10745073 Standard NM_032687 NM_138496 NA Approved CHRP, KIAA0496, MGC13010 uc003zcv.2 Q6ZMK1 OTTHUMG00000165171 ENST00000403000.2:c.-343G>A chr8.hg19:g.145690627C>T NA B3KSX0|D3DWM3|Q9BSF6|Q9BSU6 hg19 CCDS6426.1 0.02 7.921583 CCAxGCG COVERED NOVEL CYHR1-005 PUTATIVE alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000382444.1 1 24.35429 KEEP 0 0 0 81 2623 CC 1 1 0 - 61 60 2060 0 0 175.652635 182 60 5874 406 ENST00000403000.2 0.251029 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 146021339 146021339 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr8:146021339A>G NA NA RPL8 (3367 upstream) : ZNF517 (2921 downstream) NA NA NA aagtagacataggagactcca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.146021339A>G NA hg19 0.02 2.240336 CATxGGA UNCOVERED NOVEL 0 1 2.404638 KEEP 2 0 0 8 229 AA 0 0 0 9 60 329 0 0 26.873578 42 60 1505 73 0.176471 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 14788 14788 __UNKNOWN__ IGR SNP G G A rs200581922 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:14788G>A NA NA None (None upstream) : MIR1302-2 (12868 downstream) NA NA NA GTCTGGGGGGGAAGGTGTCAT 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 7 6 NA NA NA 9 NA NA 14788 1355 3619 4974 SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.14788G>A NA hg19 0.02 1.865517 GGGxAAG COVERED NOVEL 0 0 3.310444 KEEP 11 0 0 11 381 GG 0.992708 0.989891 0 9 40 314 0 0 24.033721 61 50 2147 125 0.128571 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 14810 14810 __UNKNOWN__ IGR SNP C C G rs71509922 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:14810C>G NA NA None (None upstream) : MIR1302-2 (12846 downstream) NA NA NA GAGCCCCCTACGATTCCCAGT 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 6 9 8 NA NA NA 9 NA NA 14810 1371 3648 5019 SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.14810C>G NA hg19 0.02 2.135243 CTAxGAT COVERED NOVEL 0 0 3.611248 KEEP 10 0 0 12 405 CC 0.993072 0.985221 0 4 40 138 0 0 9.242438 59 60 1874 113 0.063492 0.992094 GLDC 2731 __UNKNOWN__ __UNKNOWN__ 9 6589268 6589268 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:6589268C>T ENST00000321612.6 - 12 1657 c.1507G>A c.(1507-1509)Gag>Aag p.E503K NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 503 NA glycine catabolic process (GO:0006546) mitochondrion (GO:0005739) electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170) cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145) CTGCACTCCTCTCCCATGCTT 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 132 104 113 NA NA NA 9 NA NA 6589268 2203 4300 6503 SO:0001583 missense D90239 CCDS34987.1 9p22 2014-09-17 2006-05-22 ENSG00000178445 ENSG00000178445 2731 1.4.4.2 4313 protein-coding gene gene with protein product glycine cleavage system protein P, glycine decarboxylase 238300 glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P) NA 1993704, 1996985 Standard NM_000170 NM_000170 NA Approved GCSP, NKH uc003zkc.3 P23378 OTTHUMG00000019524 ENST00000321612.6:c.1507G>A chr9.hg19:g.6589268C>T ENSP00000370737:p.Glu503Lys NA Q2M2F8 hg19 CCDS34987.1 0.02 6.109465 CCTxTCC COVERED . . . . . . . . . . C 10.97 1.502478 0.26949 . . ENSG00000178445 ENST00000321612 D 0.99150 -5.49 5.37 5.37 0.77165 . 0.046698 0.85682 D 0.000000 D 0.96315 0.8798 L 0.29908 0.895 0.80722 D 1 P 0.35481 0.504 B 0.28011 0.085 D 0.97114 0.9806 10 0.09843 T 0.71 -28.1294 19.0949 0.93246 0.0:1.0:0.0:0.0 . 503 P23378 GCSP_HUMAN K 503 ENSP00000370737:E503K ENSP00000370737:E503K E - 1 0 GLDC 6579268 1.000000 0.71417 0.789000 0.31954 0.211000 0.24417 7.051000 0.76627 2.510000 0.84645 0.557000 0.71058 GAG NOVEL GLDC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051674.2 0 9.028652 KEEP 0 0 0 30 1019 CC 0.999997 0.999997 0 - 66 60 2294 0 0 205.811587 134 60 4884 292 ENST00000321612.6 0.33 1 FOCAD 54914 __UNKNOWN__ __UNKNOWN__ 9 20933055 20933055 __UNKNOWN__ Silent SNP G G A rs149998482 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:20933055G>A ENST00000380249.1 + 30 3724 c.3360G>A c.(3358-3360)tcG>tcA p.S1120S FOCAD_ENST00000338382.6_Silent_p.S1120S|FOCAD_ENST00000605086.1_Silent_p.S556S NM_017794.3 NP_060264.3 Q5VW36 FOCAD_HUMAN focadhesin 1120 NA focal adhesion (GO:0005925)|integral component of membrane (GO:0016021) NA TGATGAAGTCGTTGGATGCCC 0.378 NA NA G||| 1 0.000199681 0 0 5008 , , NA 16558 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 G 0,4406 0,0,2203 197 178 184 NA 3360 -2.5 1 9 dbSNP_134 184 4,8596 3.7+/-12.6 0,4,4296 no coding-synonymous KIAA1797 NM_017794.3 0,4,6499 AA,AG,GG NA 0.0465,0.0,0.0308 1120/1802 20933055 4,13002 2203 4300 6503 SO:0001819 synonymous_variant AB058700 CCDS34993.1 9p21 2012-03-23 2012-03-23 2012-03-23 ENSG00000188352 ENSG00000188352 54914 23377 protein-coding gene gene with protein product 614606 KIAA1797 KIAA1797 NA 22427331 Standard NM_017794 XM_006716794 NA Approved FLJ20375 uc003zog.1 Q5VW36 OTTHUMG00000066930 ENST00000380249.1:c.3360G>A chr9.hg19:g.20933055G>A NA D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87 hg19 CCDS34993.1 0.02 19.298292 GTCxTTG COVERED NOVEL FOCAD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143442.1 3 15.644993 KEEP 0 0 0 52 1679 GG 1 1 0 + 136 60 4821 0 0 424.715917 331 60 10668 619 ENST00000380249.1 0.291221 1 LINGO2 158038 __UNKNOWN__ __UNKNOWN__ 9 28189695 28189695 __UNKNOWN__ Intron SNP G G A rs71512429 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:28189695G>A ENST00000379992.2 - 4 364 LINGO2_ENST00000493941.1_Intron NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 NA NA integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) ggaaggaagggagggaggaag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL353746 CCDS6524.1 9p21.2 2013-01-11 2007-02-01 2007-02-01 ENSG00000174482 ENSG00000174482 158038 Immunoglobulin superfamily / I-set domain containing 21207 protein-coding gene gene with protein product 609793 leucine rich repeat neuronal 6C LRRN6C NA 14686891 Standard NM_152570 NM_152570 NA Approved LERN3 uc003zqu.2 Q7L985 OTTHUMG00000019721 ENST00000379992.2:c.85+105510C>T chr9.hg19:g.28189695G>A NA A8K4K7|B2RPM5|Q6ZMD0 hg19 CCDS6524.1 0.02 -0.052639 AGGxAGG UNCOVERED NOVEL LINGO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051978.2 4 2.407689 KEEP 3 0 0 8 269 GG 0 0 0 - 2 60 72 0 0 6.950046 2 40 72 23 ENST00000379992.2 0.5 0.036766 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 30690520 30690520 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:30690520G>A NA NA snoU13 (511945 upstream) : AL590726.2 (80574 downstream) NA NA NA GACTTGTACTGGTGTTGTAAC 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.30690520G>A NA hg19 0.02 23.932658 ACTxGTG COVERED NOVEL 0 3 6.842411 KEEP 24 2 60 44 1455 GG 1 1 0 34 47 1093 0 0 67.029474 653 60 23666 923 0.049491 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33386641 33386641 __UNKNOWN__ Intron SNP C C T rs62542747 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:33386641C>T ENST00000537089.1 - 4 311 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CAGCATGCTCCGTGACAGAGC 0.537 NA NA c||| 3 0.000599042 0 0 5008 , , NA 20773 0.001 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.8-102G>A chr9.hg19:g.33386641C>T NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 1.810806 CTCxGTG COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 1 2.707288 KEEP 1 0 0 9 265 CC 0.99254 0.992503 0 - 32 47 1094 0 0 97.618346 67 60 2074 121 ENST00000537089.1 0.323232 0.999962 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33389412 33389412 __UNKNOWN__ Intron SNP G G A rs56166415 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:33389412G>A ENST00000537089.1 - 4 311 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) gccttaagcagtcctctcacc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.8-2873C>T chr9.hg19:g.33389412G>A NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 -0.166683 GCAxTCC UNCOVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 2 2.407945 KEEP 1 0 0 8 289 GG 0 0 0 - 6 40 209 0 0 18.616698 13 60 457 32 ENST00000537089.1 0.315789 0.353947 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395216 33395216 __UNKNOWN__ Intron SNP T T G rs73645286 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:33395216T>G ENST00000537089.1 - 3 193 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCCGAGCCCATGGACAGAAAG 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 37 29 32 NA NA NA 9 NA NA 33395216 2203 4298 6501 SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.126-23A>C chr9.hg19:g.33395216T>G NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 8.291491 CCAxGGA COVERED . . . . . . . . . . T 12.46 1.943405 0.34283 . . ENSG00000165269 ENST00000379507;ENST00000379506 D;D 0.84146 -1.81;-1.69 3.74 -0.00257 0.14029 . . . . . T 0.74176 0.3682 . . . 0.19945 N 0.999942 B 0.02656 0.0 B 0.01281 0.0 T 0.62637 -0.6812 8 0.87932 D 0 . 2.3696 0.04327 0.2117:0.2486:0.0:0.5398 . 1 Q5T5M0 . L 1 ENSP00000368821:M1L;ENSP00000368820:M1L ENSP00000368820:M1L M - 1 0 AQP7 33385216 0.000000 0.05858 0.013000 0.15412 0.272000 0.26649 0.226000 0.17776 -0.004000 0.14419 -0.432000 0.05891 ATG NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 2 11.04979 KEEP 5 1 35 49 1454 TT 1 1 0 - 11 40 336 0 0 20.066495 209 60 6935 346 ENST00000537089.1 0.05 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395238 33395238 __UNKNOWN__ Intron SNP C C T rs377141604 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:33395238C>T ENST00000537089.1 - 3 193 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) AGACTCAAGTCTGCCTGCTGC 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 28 23 24 NA NA NA 9 NA NA 33395238 2203 4299 6502 SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.126-45G>A chr9.hg19:g.33395238C>T NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 7.965203 AGTxTGC COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 2 12.471945 KEEP 6 1 33 53 1805 CC 1 1 0 - 10 40 328 0 0 19.956115 215 60 7630 365 ENST00000537089.1 0.044444 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395267 33395267 __UNKNOWN__ Intron SNP C C A rs189801776 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:33395267C>A ENST00000537089.1 - 3 193 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TCTTCAACTCCCAGCTGAGTT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.126-74G>T chr9.hg19:g.33395267C>A NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 7.572714 CTCxCAG COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 1 14.454716 KEEP 3 1 31 59 1996 CC 1 1 0 - 10 40 309 0 0 18.098833 208 60 7100 355 ENST00000537089.1 0.045872 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395365 33395365 __UNKNOWN__ Intron SNP C C T rs2381006 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:33395365C>T ENST00000537089.1 - 3 193 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TTGAGAGCCACGGGGACATGG 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.126-172G>A chr9.hg19:g.33395365C>T NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 4.097134 CCAxGGG COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 1 7.2188 KEEP 0 0 0 24 726 CC 0.999909 0.999909 0 - 8 46 268 0 0 17.841119 113 60 3570 170 ENST00000537089.1 0.066116 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 36019909 36019909 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:36019909T>G NA NA OR13C7P (16045 upstream) : RECK (16520 downstream) NA NA NA tggtggtggtttttttttttt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.36019909T>G NA hg19 0.02 -0.122745 GGTxTTT COVERED NOVEL 0 7 4.775312 KEEP 0 0 0 16 406 TT 0.997832 0.195886 0 3 60 103 0 1 8.933579 8 60 263 41 0.272727 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 36019910 36019910 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:36019910T>G NA NA OR13C7P (16046 upstream) : RECK (16519 downstream) NA NA NA ggtggtggttttttttttttt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.36019910T>G NA hg19 0.02 -0.131575 GTTxTTT COVERED NOVEL 0 7 4.793146 KEEP 0 0 0 16 443 TT 0.997832 0.228676 0 3 60 100 0 1 8.501119 9 60 304 41 0.25 0.229173 DCAF10 79269 __UNKNOWN__ __UNKNOWN__ 9 37837140 37837140 __UNKNOWN__ Intron SNP C C A rs112288035 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:37837140C>A ENST00000377724.3 + 3 1018 DCAF10_ENST00000242323.7_Intron|RP11-613M10.9_ENST00000540557.1_Intron NM_024345.3 NP_077321.3 Q5QP82 DCA10_HUMAN DDB1 and CUL4 associated factor 10 NA NA protein ubiquitination (GO:0016567) Cul4-RING E3 ubiquitin ligase complex (GO:0080008) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 12 cCCAAAATTGCATAGAAATAA 0.433 NA NA A||| 783 0.15635 0.3162 0.1369 5008 , , NA 19340 0.0665 NA 0.162 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC003520 CCDS6613.2, CCDS75835.1 9p13.2 2013-01-09 2009-07-17 2009-07-17 ENSG00000122741 ENSG00000122741 79269 WD repeat domain containing, DDB1 and CUL4 associated factors 23686 protein-coding gene gene with protein product NA WD repeat domain 32 WDR32 NA Standard NM_024345 NM_001286810 NA Approved MGC10765, FLJ23201 uc004aao.3 Q5QP82 OTTHUMG00000019934 ENST00000377724.3:c.654-4946C>A chr9.hg19:g.37837140C>A NA A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6 hg19 CCDS6613.2 0.02 5.379341 TTGxATA COVERED NOVEL DCAF10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052485.2 3 6.256456 KEEP 8 1 35 33 1168 CC 0.999998 0.999998 0 + 11 47 346 0 0 22.031555 170 60 6285 282 ENST00000377724.3 0.060773 1 CNTNAP3 79937 __UNKNOWN__ __UNKNOWN__ 9 39174437 39174437 __UNKNOWN__ Intron SNP T T C rs1329860 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:39174437T>C ENST00000297668.6 - 7 1145 CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Intron|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377656.2_Intron|CNTNAP3_ENST00000377659.1_Intron NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 NA NA cell adhesion (GO:0007155)|cell recognition (GO:0008037) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGTTTTTCCCTTTTTCTCATG 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF333769 CCDS6616.1 9q12 2008-02-05 ENSG00000106714 ENSG00000106714 79937 13834 protein-coding gene gene with protein product cell recognition molecule CASPR3 (FLJ14195, KIAA1714) 610517 NA 12093160 Standard NM_033655 NM_033655 NA Approved CASPR3, KIAA1714, FLJ14195, CNTNAP3A uc004abi.3 Q9BZ76 OTTHUMG00000019954 ENST00000297668.6:c.1071+1508A>G chr9.hg19:g.39174437T>C NA B1AMA0|Q9C0E9 hg19 CCDS6616.1 0.02 16.046015 CCCxTTT COVERED NOVEL CNTNAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052511.1 2 6.655585 KEEP 5 1 34 34 1098 TT 0.999999 0.999999 0 - 16 25 542 0 0 32.681742 387 61 13406 533 ENST00000297668.6 0.039702 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 42535919 42535919 __UNKNOWN__ IGR SNP G G C rs202160931 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:42535919G>C NA NA RP11-146D12.2 (61680 upstream) : AL591471.1 (43987 downstream) NA NA NA gcctcccaaagtgctgggatt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.42535919G>C NA hg19 0.02 -0.087731 AAAxTGC UNCOVERED NOVEL 0 2 3.91278 KEEP 2 0 0 13 461 GG 0.993072 0.09903 0 3 25 115 0 0 10.278508 7 46 254 34 0.3 0.099721 CNTNAP3B 728577 __UNKNOWN__ __UNKNOWN__ 9 43816735 43816735 __UNKNOWN__ Missense_Mutation SNP G G C rs200986004 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:43816735G>C ENST00000377564.3 + 6 1234 c.841G>C c.(841-843)Gac>Cac p.D281H CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.D281H NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 281 Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CGAGCTCCTCGACACGCAGGT 0.488 NA NA g||| 100 0.0199681 0.0166 0.0101 5008 , , NA 22562 0.0466 NA 0.008 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BX538190 CCDS75836.1 9p12 2007-12-14 ENSG00000154529 ENSG00000154529 728577 32035 protein-coding gene gene with protein product NA NA 15820314 Standard XM_006716853 NA Approved uc004abr.1 Q96NU0 OTTHUMG00000013174 ENST00000377564.3:c.841G>C chr9.hg19:g.43816735G>C ENSP00000366787:p.Asp281His NA B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3 hg19 CCDS55312.1 0.02 21.880803 CTCxACA COVERED . . . . . . . . . . g 14.89 2.671567 0.47781 . . ENSG00000154529 ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166 T;T 0.78246 -1.16;-1.16 2.77 -4.35 0.03656 . . . . . T 0.60907 0.2305 N 0.14661 0.345 0.09310 N 1 . . . . . . T 0.56492 -0.7970 7 0.62326 D 0.03 . 8.1029 0.30868 0.5769:0.0:0.4231:0.0 . . . . H 281 ENSP00000366787:D281H;ENSP00000276974:D281H ENSP00000276974:D281H D + 1 0 CNTNAP3B 43756731 0.000000 0.05858 0.000000 0.03702 0.466000 0.32739 0.894000 0.28350 -0.920000 0.03799 -0.506000 0.04501 GAC NOVEL CNTNAP3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000036930.3 5 16.027396 KEEP 57 5 171 113 3794 GG 1 1 0 + 27 40 947 0 0 59.95234 565 50 19568 1001 ENST00000377564.3 0.045608 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 44879076 44879076 __UNKNOWN__ IGR SNP C C T rs111354084 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:44879076C>T NA NA RP11-160N1.10 (8548 upstream) : FAM27C (111237 downstream) NA NA NA aaacacacacccccaggcaac 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.44879076C>T NA hg19 0.02 -0.236655 CACxCCC COVERED NOVEL 0 8 3.310246 KEEP 4 0 0 11 357 CC 0.993072 0.608164 0 6 60 204 1 0 18.474827 11 60 350 43 0.352941 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 45362631 45362631 __UNKNOWN__ IGR SNP G G A rs28526589 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:45362631G>A NA NA RP11-449H15.2 (150130 upstream) : RP11-187C18.5 (31213 downstream) NA NA NA TGCAAGTCGCGCAAGGAGCAG 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.45362631G>A NA hg19 0.02 1.757072 CGCxCAA COVERED NOVEL 0 1 2.70836 KEEP 16 0 0 9 299 GG 0.99257 0.990141 0 12 47 412 0 0 35.460425 34 50 1115 108 0.26087 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 45363533 45363533 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:45363533C>A NA NA RP11-449H15.2 (151032 upstream) : RP11-187C18.5 (30311 downstream) NA NA NA GGCTTCAGCACCCCTGGGCCA 0.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.45363533C>A NA hg19 0.02 -0.37691 GCAxCCC UNCOVERED NOVEL 0 1 5.718697 KEEP 109 0 0 19 672 CC 0 0 0 5 31 183 0 0 14.523319 29 40 946 225 0.147059 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 45363611 45363611 __UNKNOWN__ IGR SNP G G T rs75158653 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:45363611G>T NA NA RP11-449H15.2 (151110 upstream) : RP11-187C18.5 (30233 downstream) NA NA NA ACTGCCCCTTGCAGACCGCTG 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.45363611G>T NA hg19 0.02 1.970697 CTTxCAG COVERED NOVEL 0 0 3.91261 KEEP 44 0 0 13 450 GG 0.99257 0.978827 0 4 40 120 0 0 8.676111 28 60 1014 126 0.125 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 65602674 65602674 __UNKNOWN__ IGR SNP T T C rs2954515 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:65602674T>C NA NA SPATA31A7 (93064 upstream) : RP11-118H15.1 (277858 downstream) NA NA NA GTGCCCCCAGTGGGCACCCGC 0.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.65602674T>C NA hg19 0.02 1.283823 CAGxGGG COVERED NOVEL 0 1 3.6106 KEEP 3 0 0 12 364 TT 0.993634 0.993529 0 19 27 546 0 0 43.331095 73 60 2393 122 0.206522 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66457051 66457051 __UNKNOWN__ IGR SNP G G A rs79307166 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66457051G>A NA NA RP11-118H15.1 (573166 upstream) : RP11-262H14.1 (237 downstream) NA NA NA gtgagtctgcggatgctccca 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66457051G>A NA hg19 0.02 6.904616 TGCxGAT COVERED NOVEL 0 0 2.999472 KEEP 4 0 0 10 291 CG 0.995343 0.995343 0 6 60 211 0 0 14.364572 85 60 2650 206 0.065934 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66457161 66457161 __UNKNOWN__ IGR SNP A A G rs139907210 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66457161A>G NA NA RP11-118H15.1 (573276 upstream) : RP11-262H14.1 (127 downstream) NA NA NA ggatggagaaatagaaccaga 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66457161A>G NA hg19 0.02 15.859796 GAAxTAG COVERED NOVEL 0 12 6.288342 KEEP 16 2 69 45 1391 AA 1 1 0 32 60 1165 0 0 94.375684 158 60 5378 560 0.168421 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66457259 66457259 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66457259G>T NA NA RP11-118H15.1 (573374 upstream) : RP11-262H14.1 (29 downstream) NA NA NA gagCACCACAGTagagcgcga 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66457259G>T NA hg19 0.02 11.269869 ACAxTAG COVERED NOVEL 0 7 8.160296 KEEP 0 1 28 37 1292 GG 1 1 0 28 51 897 0 0 72.555669 113 60 3942 417 0.198582 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457330 66457330 __UNKNOWN__ lincRNA SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66457330G>T ENST00000424345.1 + 0 42 NA NA NA cagcgacagagccttggagag 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457330G>T NA hg19 0.02 12.888966 AGAxCCT COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 3 12.671085 KEEP 27 1 34 54 1811 GG 1 1 0 + 13 49 428 0 0 28.279912 182 60 6533 550 ENST00000424345.1 0.066667 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457652 66457652 __UNKNOWN__ lincRNA SNP C C T rs1809741 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66457652C>T ENST00000424345.1 + 0 67 NA NA NA TCCTGTCCTCCGGACTGGAGT 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457652C>T NA hg19 0.02 8.531537 CTCxGGA COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 1 8.425179 KEEP 9 0 0 28 888 AC 0.999997 0.999997 0 + 9 50 309 0 0 21.421219 108 60 3355 285 ENST00000424345.1 0.076923 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66499180 66499180 __UNKNOWN__ IGR SNP T T C rs2633108 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66499180T>C NA NA RP11-262H14.1 (29870 upstream) : RP11-262H14.7 (18025 downstream) NA NA NA ACTGGGGCCGTTACACGTGAC 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66499180T>C NA hg19 0.02 8.95955 CCGxTAC COVERED NOVEL 0 1 10.190291 KEEP 10 2 72 59 1656 TT 1 1 0 10 31 370 0 0 24.014566 215 60 7224 337 0.044444 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66499292 66499292 __UNKNOWN__ IGR SNP T T C rs77998783 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66499292T>C NA NA RP11-262H14.1 (29982 upstream) : RP11-262H14.7 (17913 downstream) NA NA NA AGGGTTTCAATGTGCATTTTA 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66499292T>C NA hg19 0.02 19.844581 CAAxGTG COVERED NOVEL 0 5 6.80109 KEEP 56 6 204 94 2901 TT 1 1 0 65 49 2191 0 0 170.234615 374 60 13085 842 0.148064 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66499334 66499334 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66499334G>A NA NA RP11-262H14.1 (30024 upstream) : RP11-262H14.7 (17871 downstream) NA NA NA ATAATACTAGGGAGCTACCTT 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66499334G>A NA hg19 0.02 12.376358 TAGxGAG COVERED NOVEL 0 0 15.382859 KEEP 45 1 19 58 1942 GG 1 1 0 14 48 503 0 0 32.56868 279 50 9759 535 0.047782 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66499403 66499403 __UNKNOWN__ IGR SNP G G A rs199663448 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66499403G>A NA NA RP11-262H14.1 (30093 upstream) : RP11-262H14.7 (17802 downstream) NA NA NA AAGAGGAATGGGAGGCTCAGT 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66499403G>A NA hg19 0.02 3.935773 ATGxGAG UNCOVERED NOVEL 0 0 2.407724 KEEP 26 0 0 8 271 GG 0 0 0 12 27 431 0 0 31.979552 106 48 3650 165 0.101695 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66500575 66500575 __UNKNOWN__ IGR SNP C C T rs71243706 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66500575C>T NA NA RP11-262H14.1 (31265 upstream) : RP11-262H14.7 (16630 downstream) NA NA NA CAGATCGCTGCTGAGCGGTCC 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66500575C>T NA hg19 0.02 3.484956 CTGxTGA COVERED NOVEL 0 0 4.213782 KEEP 14 0 0 14 498 CC 0.995343 0.995343 0 12 60 381 0 0 26.604294 115 60 4088 185 0.094488 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66500587 66500587 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66500587G>A NA NA RP11-262H14.1 (31277 upstream) : RP11-262H14.7 (16618 downstream) NA NA NA GAGCGGTCCCGCAGCCAACCC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66500587G>A NA hg19 0.02 3.60203 CCCxCAG COVERED NOVEL 0 0 4.212281 KEEP 29 0 0 14 450 GG 0.995343 0.995343 0 5 25 173 0 0 10.592856 119 60 3735 202 0.040323 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66500694 66500694 __UNKNOWN__ IGR SNP C C A rs368548589 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66500694C>A NA NA RP11-262H14.1 (31384 upstream) : RP11-262H14.7 (16511 downstream) NA NA NA GGCTTCAGCACCCCTGGGCCA 0.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66500694C>A NA hg19 0.02 3.546128 GCAxCCC COVERED NOVEL 0 0 6.255066 KEEP 89 1 17 27 910 CC 0.997832 0.997831 0 8 31 234 0 0 15.025649 96 40 3278 290 0.076923 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66513785 66513785 __UNKNOWN__ IGR SNP C C T rs371037280 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:66513785C>T NA NA RP11-262H14.1 (44475 upstream) : RP11-262H14.7 (3420 downstream) NA NA NA GTGACCAGGGCTTGGACCCTG 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.66513785C>T NA hg19 0.02 11.734585 GGGxTTG COVERED NOVEL 0 1 2.37457 KEEP 211 2 45 24 804 CC 0.997832 0.997832 0 12 39 340 0 0 18.125777 287 48 10184 607 0.040134 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 67273568 67273568 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:67273568T>C NA NA AL845321.1 (48116 upstream) : RP11-236F9.2 (16001 downstream) NA NA NA ACAGCTGCGTTCATGTGGGCT 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.67273568T>C NA hg19 0.02 10.080578 CGTxCAT COVERED NOVEL 0 1 9.262939 KEEP 18 1 35 43 1374 TT 1 1 0 13 43 448 0 0 27.974795 277 60 9426 421 0.044828 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 67281940 67281940 __UNKNOWN__ IGR SNP A A G rs4556191 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:67281940A>G NA NA AL845321.1 (56488 upstream) : RP11-236F9.2 (7629 downstream) NA NA NA CAGACTTGCCACACACACCTC 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.67281940A>G NA hg19 0.02 8.255668 GCCxCAC COVERED NOVEL 0 0 3.342401 KEEP 83 1 34 23 660 AA 0.99986 0.99986 0 20 40 700 0 0 51.453975 177 47 5812 404 0.101523 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 67696150 67696150 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:67696150G>A NA NA RP11-38P6.1 (112991 upstream) : Y_RNA (68371 downstream) NA NA NA ctggatgacagagtaagaccg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.67696150G>A NA hg19 0.02 -0.149143 ACAxAGT UNCOVERED NOVEL 0 3 2.708619 KEEP 4 0 0 9 306 GG 0 0 0 4 49 149 0 0 12.780564 13 50 469 35 0.235294 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68357943 68357943 __UNKNOWN__ IGR SNP C C A rs80239466 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68357943C>A NA NA RP11-149F8.5 (17299 upstream) : RP11-764K9.1 (39934 downstream) NA NA NA TGAATGCTCTCATTTTCCAAC 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68357943C>A NA hg19 0.02 5.947401 TCTxATT COVERED NOVEL 0 3 2.70874 KEEP 7 0 0 9 312 CC 0.99254 0.99254 0 27 47 920 0 0 73.841864 127 60 4624 256 0.175325 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68370246 68370246 __UNKNOWN__ IGR SNP G G T rs200921163 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68370246G>T NA NA RP11-149F8.5 (29602 upstream) : RP11-764K9.1 (27631 downstream) NA NA NA AAGACACAAGGCAGGGAAGTG 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68370246G>T NA hg19 0.02 -0.280288 AAGxCAG UNCOVERED NOVEL 0 0 3.611652 KEEP 32 0 0 12 425 GG 0 0 0 3 27 95 0 0 7.888123 10 40 313 86 0.230769 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415207 68415207 __UNKNOWN__ IGR SNP G G A rs71224723 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68415207G>A NA NA RP11-764K9.1 (5314 upstream) : MIR4477B (100 downstream) NA NA NA attttgtaaaggtatagctgt 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68415207G>A NA hg19 0.02 3.74827 AAAxGTA COVERED NOVEL 0 10 3.912249 KEEP 0 0 0 13 432 GG 0.994391 0.994391 0 5 60 177 0 0 11.445846 96 70 3470 161 0.049505 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415212 68415212 __UNKNOWN__ IGR SNP A A T rs143303312 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68415212A>T NA NA RP11-764K9.1 (5319 upstream) : MIR4477B (95 downstream) NA NA NA gtaaaggtatagctgtcatag 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68415212A>T NA hg19 0.02 3.804782 TATxGCT COVERED NOVEL 0 10 3.910228 KEEP 0 0 0 13 384 AA 0.994391 0.994391 0 14 60 469 0 0 35.380117 96 70 3185 170 0.127273 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415302 68415302 __UNKNOWN__ IGR SNP A A G rs75680996 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68415302A>G NA NA RP11-764K9.1 (5409 upstream) : MIR4477B (5 downstream) NA NA NA ctttcatgatatttgaacctc 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68415302A>G NA hg19 0.02 8.229011 GATxTTT COVERED NOVEL 0 3 2.442126 KEEP 0 1 34 20 617 AA 0.999869 0.999869 0 7 60 260 0 0 15.85946 214 60 7415 357 0.031674 1 MIR4477B 100616194 __UNKNOWN__ __UNKNOWN__ 9 68415343 68415343 __UNKNOWN__ RNA SNP A A G rs71224722 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68415343A>G ENST00000581659.1 + 0 36 NR_039688.1|NR_039689.1 microRNA 4477b NA NA NA ccttaatagcaatccttaaat 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 9 2011-09-12 100616194 ncRNAs / Micro RNAs 41898 non-coding RNA RNA, micro NA NA Standard NR_039689 NR_039689 NA Approved hsa-mir-4477b ENST00000581659.1: chr9.hg19:g.68415343A>G NA hg19 0.02 8.445107 AGCxATC COVERED NOVEL MIR4477B-201 KNOWN basic miRNA NA miRNA 3 5.114111 KEEP 0 0 0 17 502 AA 0.999366 0.999366 0 + 13 60 467 0 0 32.935129 158 60 5454 265 ENST00000581659.1 0.076023 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415752 68415752 __UNKNOWN__ IGR SNP A A C rs144315063 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68415752A>C NA NA MIR4477B (364 upstream) : CR786580.2 (96593 downstream) NA NA NA ttttgaaagaagttctactgt 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68415752A>C NA hg19 0.02 6.563181 AGAxGTT COVERED NOVEL 0 3 3.378918 KEEP 1 2 68 35 1085 AA 0.999999 0.999999 0 9 60 297 0 0 20.25809 107 60 3836 262 0.077586 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415759 68415759 __UNKNOWN__ IGR SNP C C T rs142734248 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68415759C>T NA NA MIR4477B (371 upstream) : CR786580.2 (96586 downstream) NA NA NA agaagttctactgttgataaa 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68415759C>T NA hg19 0.02 6.118503 CTAxTGT COVERED NOVEL 0 2 2.276742 KEEP 1 2 64 30 1052 CC 0.999997 0.999997 0 9 60 312 0 0 21.978216 101 60 3633 240 0.081818 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415809 68415809 __UNKNOWN__ IGR SNP T T G rs76710627 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68415809T>G NA NA MIR4477B (421 upstream) : CR786580.2 (96536 downstream) NA NA NA ggaaatcttttgtgaaaggaa 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68415809T>G NA hg19 0.02 1.95088 TTTxGTG COVERED NOVEL 0 2 3.297502 KEEP 2 0 0 11 318 TT 0.99254 0.992102 0 4 60 139 0 0 10.162701 36 60 1235 101 0.1 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68422409 68422409 __UNKNOWN__ IGR SNP G G C rs4455978 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68422409G>C NA NA MIR4477B (7021 upstream) : CR786580.2 (89936 downstream) NA NA NA AGGAACTTGggctgggcgcgg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68422409G>C NA hg19 0.02 2.047909 TGGxCTG COVERED NOVEL 0 35 11.436304 KEEP 5 0 0 38 1302 GG 1 0.997897 0 4 60 120 0 0 9.779201 14 60 491 146 0.222222 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427740 68427740 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68427740A>T NA NA MIR4477B (12352 upstream) : CR786580.2 (84605 downstream) NA NA NA ATCCTGGTTAAACTAGCTACT 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68427740A>T NA hg19 0.02 35.686255 TTAxACT COVERED NOVEL 0 4 21.33579 KEEP 18 2 63 93 3056 AA 1 1 0 26 60 957 0 0 59.619522 689 60 24522 1120 0.036364 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427750 68427750 __UNKNOWN__ IGR SNP T T C rs78840873 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68427750T>C NA NA MIR4477B (12362 upstream) : CR786580.2 (84595 downstream) NA NA NA AACTAGCTACTAGCTAAACAA 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68427750T>C NA hg19 0.02 37.436392 TACxAGC COVERED NOVEL 0 4 4.054572 KEEP 18 7 239 97 2991 TT 1 1 0 31 60 1114 0 0 70.916576 678 60 24567 1127 0.043724 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427763 68427763 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68427763A>G NA NA MIR4477B (12375 upstream) : CR786580.2 (84582 downstream) NA NA NA CTAAACAATAAGTTCACAACA 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68427763A>G NA hg19 0.02 38.216336 ATAxGTT COVERED NOVEL 0 3 7.291593 KEEP 20 8 277 121 3840 AA 1 1 0 64 60 2336 1 0 172.384059 608 60 21496 1152 0.095238 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427800 68427800 __UNKNOWN__ IGR SNP C C T rs77055654 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68427800C>T NA NA MIR4477B (12412 upstream) : CR786580.2 (84545 downstream) NA NA NA AAAGCATTTCCTCTGAATATT 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68427800C>T NA hg19 0.02 37.084867 TTCxTCT COVERED NOVEL 0 2 12.257058 KEEP 37 12 389 177 6082 CC 1 1 0 27 60 949 0 0 58.373989 660 60 23509 1257 0.039301 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427854 68427854 __UNKNOWN__ IGR SNP C C T rs140372562 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68427854C>T NA NA MIR4477B (12466 upstream) : CR786580.2 (84491 downstream) NA NA NA AAACAAAAATCCCAGTCATTT 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68427854C>T NA hg19 0.02 31.926926 AATxCCA COVERED NOVEL 0 8 21.960191 KEEP 27 9 273 169 5749 CC 1 1 0 22 40 779 0 0 46.771669 622 70 21807 1177 0.034161 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68429092 68429092 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68429092G>A NA NA MIR4477B (13704 upstream) : CR786580.2 (83253 downstream) NA NA NA AGCATCTCATGCAAAAATCCA 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68429092G>A NA hg19 0.02 17.523427 CATxCAA COVERED NOVEL 0 7 14.280282 KEEP 2 1 33 59 2047 GG 1 1 0 13 60 415 0 0 24.793906 273 60 10011 619 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68429234 68429234 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68429234A>G NA NA MIR4477B (13846 upstream) : CR786580.2 (83111 downstream) NA NA NA GATTATACATATTTACTATTA 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68429234A>G NA hg19 0.02 13.458123 CATxTTT COVERED NOVEL 0 41 12.56359 KEEP 9 1 35 54 1505 AA 1 1 0 19 60 709 0 0 49.510512 271 60 9139 432 0.065517 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68431233 68431233 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68431233C>G NA NA MIR4477B (15845 upstream) : CR786580.2 (81112 downstream) NA NA NA AAAATGCAATCTTTGTGTAAG 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68431233C>G NA hg19 0.02 16.219519 AATxTTT COVERED NOVEL 0 5 2.543356 KEEP 8 1 36 21 695 CC 0.999879 0.999879 0 19 60 677 0 0 45.944357 284 60 10251 491 0.062706 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68431260 68431260 __UNKNOWN__ IGR SNP T T C rs75781108 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68431260T>C NA NA MIR4477B (15872 upstream) : CR786580.2 (81085 downstream) NA NA NA TGTATCTTTGTATAAGTGCAA 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68431260T>C NA hg19 0.02 11.411597 TTGxATA COVERED NOVEL 0 5 2.40694 KEEP 7 0 0 8 239 TT 0.99257 0.99257 0 35 60 1169 0 0 92.104476 181 60 5758 300 0.162037 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433493 68433493 __UNKNOWN__ IGR SNP C C T rs75971144 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68433493C>T NA NA MIR4477B (18105 upstream) : CR786580.2 (78852 downstream) NA NA NA TGCTGTTTTACTTTTTGCTTC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68433493C>T NA hg19 0.02 26.249163 TTAxTTT COVERED NOVEL 0 2 13.375009 KEEP 57 4 112 84 2873 CC 1 1 0 18 25 650 0 0 42.371004 351 60 12651 854 0.04878 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433588 68433588 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68433588A>T NA NA MIR4477B (18200 upstream) : CR786580.2 (78757 downstream) NA NA NA AAAATAACAAAATAGCCATGA 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68433588A>T NA hg19 0.02 31.674931 CAAxATA COVERED NOVEL 0 19 23.635274 KEEP 76 2 61 100 3136 AA 1 1 0 22 60 737 0 0 47.627237 362 60 12726 1140 0.057292 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433657 68433657 __UNKNOWN__ IGR SNP A A C rs141211711 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68433657A>C NA NA MIR4477B (18269 upstream) : CR786580.2 (78688 downstream) NA NA NA TTCCTCCCTGATTTAAAAATC 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68433657A>C NA hg19 0.02 35.189514 CTGxTTT COVERED NOVEL 0 18 11.13297 KEEP 17 1 31 48 1316 AA 1 1 0 43 60 1582 0 0 112.876534 519 60 17801 880 0.076512 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68436024 68436024 __UNKNOWN__ IGR SNP G G A rs201709725 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68436024G>A NA NA MIR4477B (20636 upstream) : CR786580.2 (76321 downstream) NA NA NA GTATGTGTGTGGGTGTGTAca 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68436024G>A NA hg19 0.02 3.804956 TGTxGGT COVERED NOVEL 0 8 5.248065 KEEP 23 1 27 27 833 GG 0.999909 0.999909 0 6 30 213 0 0 13.914849 110 60 3663 195 0.051724 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68452816 68452816 __UNKNOWN__ IGR SNP T T C rs113542819 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68452816T>C NA NA MIR4477B (37428 upstream) : CR786580.2 (59529 downstream) NA NA NA GTAGGTAATATTTAAGCACTT 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68452816T>C NA hg19 0.02 15.108946 ATAxTTA COVERED NOVEL 0 2 5.248408 KEEP 13 1 36 30 866 TT 0.999988 0.999988 0 25 24 879 1 0 60.878614 326 50 11298 424 0.071225 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68452888 68452888 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68452888A>G NA NA MIR4477B (37500 upstream) : CR786580.2 (59457 downstream) NA NA NA TGAGATCTCAAGAAATGTTAA 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68452888A>G NA hg19 0.02 13.440324 TCAxGAA COVERED NOVEL 0 1 11.127158 KEEP 47 0 0 37 1177 AA 0.999997 0.999997 0 15 40 566 0 0 37.639309 297 55 10816 504 0.048077 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68452975 68452975 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68452975C>T NA NA MIR4477B (37587 upstream) : CR786580.2 (59370 downstream) NA NA NA ctctttttctcttcttatctt 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68452975C>T NA hg19 0.02 13.597744 TCTxTTC COVERED NOVEL 0 1 6.554262 KEEP 22 1 23 30 1019 CC 0.999997 0.999997 0 15 36 492 0 0 32.263466 218 60 7798 445 0.064378 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68484698 68484698 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68484698C>T NA NA MIR4477B (69310 upstream) : CR786580.2 (27647 downstream) NA NA NA ccatgcTGGTCCTGATGTCAT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68484698C>T NA hg19 0.02 1.965202 GGTxCTG COVERED NOVEL 0 2 3.310539 KEEP 2 0 0 11 370 CC 0.993072 0.990255 0 7 47 242 0 0 20.829663 20 50 705 103 0.259259 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68504884 68504884 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68504884C>T NA NA MIR4477B (89496 upstream) : CR786580.2 (7461 downstream) NA NA NA TTGTGCATGCCCAATGCTTAC 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68504884C>T NA hg19 0.02 1.871911 TGCxCAA COVERED NOVEL 0 4 2.708801 KEEP 1 0 0 9 311 CC 0.99257 0.992466 0 5 51 152 0 0 10.495385 46 60 1637 140 0.098039 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68681916 68681916 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68681916A>T NA NA CR786580.1 (168729 upstream) : AL353763.2 (315492 downstream) NA NA NA ggcctcccaaagtgctgggaa 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68681916A>T NA hg19 0.02 1.786561 CAAxGTG COVERED NOVEL 0 16 8.860093 KEEP 4 1 24 38 1205 AA 1 0.999218 0 7 49 249 0 0 17.974094 72 50 2557 156 0.088608 0.999218 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68681968 68681968 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68681968C>A NA NA CR786580.1 (168781 upstream) : AL353763.2 (315440 downstream) NA NA NA agtctaaattcttaacatcta 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68681968C>A NA hg19 0.02 -0.421112 ATTxTTA COVERED NOVEL 0 4 4.815308 KEEP 11 0 0 16 545 CC 0.993634 0.942364 0 3 27 106 0 0 7.405196 37 50 1352 94 0.075 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728799 68728799 __UNKNOWN__ IGR SNP A A T rs4928724 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68728799A>T NA NA CR786580.1 (215612 upstream) : AL353763.2 (268609 downstream) NA NA NA ACACAAATCAATATACTTAAA 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68728799A>T NA hg19 0.02 13.914794 TCAxTAT COVERED NOVEL 0 1 6.11655 KEEP 25 3 81 49 1503 AA 1 1 0 19 60 642 0 0 54.959378 55 60 1917 431 0.256757 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728891 68728891 __UNKNOWN__ IGR SNP C C T rs144596557 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68728891C>T NA NA CR786580.1 (215704 upstream) : AL353763.2 (268517 downstream) NA NA NA atgaagaaACCCAGCTTGATA 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68728891C>T NA hg19 0.02 31.505379 AACxCAG COVERED NOVEL 0 9 47.211008 KEEP 62 6 200 227 7825 CC 1 1 0 24 42 818 0 0 51.467159 486 60 17166 1360 0.047059 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728997 68728997 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:68728997T>C NA NA CR786580.1 (215810 upstream) : AL353763.2 (268411 downstream) NA NA NA ATTTATGATGTATTCATATTT 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68728997T>C NA hg19 0.02 14.081752 ATGxATT COVERED NOVEL 0 0 12.018153 KEEP 51 1 37 53 1521 TT 1 1 0 12 40 427 0 0 25.727009 339 50 11172 470 0.034188 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69002413 69002413 __UNKNOWN__ IGR SNP T T C rs62555122 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69002413T>C NA NA MIR1299 (92 upstream) : PGM5P2 (77826 downstream) NA NA NA aacactgctatgagggtctgg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69002413T>C NA hg19 0.02 1.810848 CTAxGAG COVERED NOVEL 0 2 4.212968 KEEP 2 0 0 14 444 TT 0.99649 0.996453 0 30 60 924 0 0 80.978192 65 60 2257 143 0.315789 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69007708 69007708 __UNKNOWN__ IGR SNP G G A rs373549624 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69007708G>A NA NA MIR1299 (5387 upstream) : PGM5P2 (72531 downstream) NA NA NA gggagaaagagaaagtaggag 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69007708G>A NA hg19 0.02 -0.114041 AGAxAAA UNCOVERED NOVEL 0 9 3.910392 KEEP 0 0 0 13 403 GG 0.994391 0.161555 0 2 48 71 0 0 6.592745 3 27 111 27 0.4 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69067824 69067824 __UNKNOWN__ IGR SNP A A T rs371906163 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69067824A>T NA NA MIR1299 (65503 upstream) : PGM5P2 (12415 downstream) NA NA NA ACACAAATCAATATACTTAAA 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69067824A>T NA hg19 0.02 7.774029 TCAxTAT COVERED NOVEL 0 1 3.242093 KEEP 52 1 29 21 637 AA 0.99986 0.99986 0 14 55 460 0 0 37.290862 58 60 2036 277 0.194444 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69067973 69067973 __UNKNOWN__ IGR SNP C C G rs377553662 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69067973C>G NA NA MIR1299 (65652 upstream) : PGM5P2 (12266 downstream) NA NA NA GTTAACATTTCTTGAGATCTC 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69067973C>G NA hg19 0.02 15.216752 TTTxTTG COVERED NOVEL 0 1 15.321573 KEEP 129 2 69 75 2658 CC 1 1 0 15 40 558 0 0 35.979291 340 50 12529 727 0.042254 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69067974 69067974 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69067974T>C NA NA MIR1299 (65653 upstream) : PGM5P2 (12265 downstream) NA NA NA TTAACATTTCTTGAGATCTCA 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69067974T>C NA hg19 0.02 15.134407 TTCxTGA COVERED NOVEL 0 1 22.865331 KEEP 130 0 0 76 2439 TT 1 1 0 13 40 490 0 0 31.014539 341 50 12133 723 0.036723 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69777726 69777726 __UNKNOWN__ IGR SNP C C G rs368951857 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69777726C>G NA NA AL445665.1 (117368 upstream) : AL359955.1 (44033 downstream) NA NA NA CAGATGCAGACAGGGAGGATG 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69777726C>G NA hg19 0.02 10.688709 AGAxAGG COVERED NOVEL 0 2 4.850557 KEEP 217 1 31 27 944 CC 0.993072 0.993072 0 11 40 394 0 0 24.836836 251 40 9319 604 0.041985 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69777775 69777775 __UNKNOWN__ IGR SNP G G A rs371465515 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69777775G>A NA NA AL445665.1 (117417 upstream) : AL359955.1 (43984 downstream) NA NA NA GGCACCTGAAGTTAGAAACAT 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69777775G>A NA hg19 0.02 10.001176 GAAxTTA COVERED NOVEL 0 1 6.320602 KEEP 164 0 0 21 738 GG 0.993634 0.993634 0 11 40 352 0 0 20.76981 246 40 8634 490 0.042802 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69798394 69798394 __UNKNOWN__ IGR SNP C C T rs62563631 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69798394C>T NA NA AL445665.1 (138036 upstream) : AL359955.1 (23365 downstream) NA NA NA ctttgggaggctggggtgggt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69798394C>T NA hg19 0.02 -0.061412 AGGxTGG UNCOVERED NOVEL 0 5 3.0099 KEEP 5 0 0 10 359 CC 0 0 0 3 40 107 0 0 10.055179 4 44 146 22 0.428571 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69807172 69807172 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69807172A>G NA NA AL445665.1 (146814 upstream) : AL359955.1 (14587 downstream) NA NA NA tacccacttcagcctcccaaa 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69807172A>G NA hg19 0.02 -0.096502 TTCxGCC UNCOVERED NOVEL 0 4 2.708007 KEEP 6 0 0 9 276 AA 0 0 0 4 40 133 0 0 12.799702 4 40 147 27 0.5 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69807216 69807216 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:69807216T>C NA NA AL445665.1 (146858 upstream) : AL359955.1 (14543 downstream) NA NA NA ctgggcagctttttgacatat 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.69807216T>C NA hg19 0.02 -0.105276 GCTxTTT UNCOVERED NOVEL 0 4 3.009089 KEEP 6 0 0 10 311 TT 0 0 0 4 40 141 0 0 13.60001 4 24 140 31 0.5 0.139832 PRUNE2 158471 __UNKNOWN__ __UNKNOWN__ 9 79319050 79319050 __UNKNOWN__ Intron SNP A A C rs620476 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:79319050A>C ENST00000376718.3 - 9 7637 PRUNE2_ENST00000428286.1_Intron NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) NA NA apoptotic process (GO:0006915) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AAGAGGAGAAAAAGGTTTAAT 0.308 NA NA C||| 3928 0.784345 0.6914 0.8228 5008 , , NA 16549 0.9127 NA 0.7714 False NA ,,, NA NA NA 2504 0.7638 NA NA NA NA NA 0 C 2221,915 801,619,148 68 61 63 NA 1.2 0 9 dbSNP_83 63 5434,1728 2081,1272,228 no intron PRUNE2 NM_015225.2 2882,1891,376 CC,CA,AA NA 24.1273,29.1773,25.6652 79319050 7655,2643 1568 3581 5149 SO:0001627 intron_variant BC019095 CCDS47982.1 9q21.32 2013-04-29 2006-11-24 2006-11-24 ENSG00000106772 ENSG00000106772 158471 25209 protein-coding gene gene with protein product olfaxin 610691 chromosome 9 open reading frame 65, KIAA0367 C9orf65, KIAA0367 NA 16288218 Standard NM_138818 NM_015225 NA Approved BMCC1, BNIPXL, A214N16.3, bA214N16.3 uc010mpk.3 Q8WUY3 OTTHUMG00000020047 ENST00000376718.3:c.7514-35T>G chr9.hg19:g.79319050A>C NA B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665 hg19 CCDS47982.1 0.02 2.247077 GAAxAAG COVERED NOVEL PRUNE2-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052730.2 0 2.706817 KEEP 0 0 0 9 256 AA 0.99254 0.990453 0 - 30 70 1094 0 0 102.239706 43 60 1491 88 ENST00000376718.3 0.410959 0.997898 GNAQ 2776 __UNKNOWN__ __UNKNOWN__ 9 80333235 80333235 __UNKNOWN__ 3'UTR SNP G G A rs78763022 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:80333235G>A ENST00000286548.4 - 0 4306 NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide NA NA action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826) NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 AAAGAATCCCGTCCCGCCCCT 0.388 NA NA Mis uveal melanoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 9 9q21 2776 guanine nucleotide binding protein (G protein), q polypeptide E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6658.1 9q21 2010-03-17 ENSG00000156052 ENSG00000156052 2776 4390 protein-coding gene gene with protein product 600998 NA 8825633 Standard NM_002072 NM_002072 NA Approved G-ALPHA-q, GAQ uc004akw.3 P50148 OTTHUMG00000020059 ENST00000286548.4:c.*3004C>T chr9.hg19:g.80333235G>A NA O15108|Q13462|Q6NT27|Q92471|Q9BZB9 hg19 CCDS6658.1 0.02 14.065611 CCCxTCC COVERED NOVEL GNAQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052761.1 6 26.130521 KEEP 6 11 302 194 5909 GG 1 1 0 - 20 49 638 0 0 39.431938 362 60 11053 738 ENST00000286548.4 0.052356 1 TLE1 7088 __UNKNOWN__ __UNKNOWN__ 9 84303843 84303843 __UNKNOWN__ 5'UTR SNP G G A rs367779642 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:84303843G>A ENST00000376499.3 - 0 377 NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GGCGCGCCGGGAGGCGGCTCG 0.726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS6661.1 9q21.32 2013-01-10 2001-11-28 ENSG00000196781 ENSG00000196781 7088 WD repeat domain containing 11837 protein-coding gene gene with protein product enhancer of split groucho 1 600189 transducin-like enhancer of split 1, homolog of Drosophila E(sp1) NA 8365415, 8808280 Standard NM_005077 NM_005077 NA Approved ESG1, GRG1, ESG uc004aly.3 Q04724 OTTHUMG00000021008 ENST00000376499.3:c.-688C>T chr9.hg19:g.84303843G>A NA A8K495|Q5T3G4|Q969V9 hg19 CCDS6661.1 0.02 10.679462 CGGxAGG COVERED NOVEL TLE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055407.1 0 30.874971 KEEP 1 3 77 130 4414 GG 1 1 0 - 10 44 325 0 0 17.907778 316 60 10860 625 ENST00000376499.3 0.030675 1 RP11-154D17.1 0 __UNKNOWN__ __UNKNOWN__ 9 84328678 84328678 __UNKNOWN__ lincRNA SNP A A G rs11791423 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:84328678A>G ENST00000437181.1 + 0 247 NA NA NA ggtgtgagccaccatgcccag 0.562 NA NA a||| 109 0.0217652 0.0015 0.0259 5008 , , NA 15724 0 NA 0.0686 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000437181.1: chr9.hg19:g.84328678A>G NA hg19 0.02 -0.061408 GCCxCCA UNCOVERED NOVEL RP11-154D17.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000052807.1 3 2.406876 KEEP 0 0 0 8 237 AA 0.99257 0.043461 0 + 3 60 102 0 0 9.555188 4 60 136 18 ENST00000437181.1 0.428571 0.043787 UBQLN1 29979 __UNKNOWN__ __UNKNOWN__ 9 86292918 86292918 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:86292918G>T ENST00000376395.4 - 6 1394 UBQLN1_ENST00000257468.7_Intron NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 NA NA cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234) kinase binding (GO:0019900) breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 ATAAGCTTTTGTTTTAAATAA 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(186;1284 2073 12755 14558 18426) NA NA 0 16 18 17 NA NA NA 9 NA NA 86292918 2202 4295 6497 SO:0001627 intron_variant AF176069 CCDS6663.1, CCDS6664.1 9q22 2013-02-12 ENSG00000135018 ENSG00000135018 29979 Ubiquilin family 12508 protein-coding gene gene with protein product 605046 NA 9303440, 10807547 Standard NM_013438 NM_013438 NA Approved DSK2, PLIC-1, XDRP1, DA41 uc004amv.3 Q9UMX0 OTTHUMG00000020104 ENST00000376395.4:c.871-42C>A chr9.hg19:g.86292918G>T NA Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5 hg19 CCDS6663.1 0.02 1.587568 TTTxTTT COVERED NOVEL UBQLN1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000052834.1 0 2.407376 KEEP 0 0 0 8 266 GG 0.99257 0.988831 0 - 8 69 168 0 0 10.083332 60 60 1923 92 ENST00000376395.4 0.117647 0.996233 KIF27 55582 __UNKNOWN__ __UNKNOWN__ 9 86451745 86451745 __UNKNOWN__ 3'UTR SNP A A G rs2542778 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:86451745A>G ENST00000297814.2 - 0 4520 KIF27_ENST00000334204.2_3'UTR|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000413982.1_3'UTR NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 NA NA ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591) cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 AAAACTCCCCAAATATATATA 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY237536 CCDS6665.1, CCDS65071.1, CCDS65072.1 9q21.32 2008-03-03 ENSG00000165115 ENSG00000165115 55582 Kinesins 18632 protein-coding gene gene with protein product 611253 NA Standard NM_017576 NM_017576 NA Approved DKFZp434D0917 uc004ana.4 Q86VH2 OTTHUMG00000020109 ENST00000297814.2:c.*171T>C chr9.hg19:g.86451745A>G NA B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54 hg19 CCDS6665.1 0.02 4.517085 CCCxAAT COVERED NOVEL KIF27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052861.1 1 5.951361 KEEP 4 1 29 30 927 AA 0.999997 0.999997 0 - 7 47 204 0 0 11.178581 159 60 5586 243 ENST00000297814.2 0.042169 1 RP11-213G2.2 0 __UNKNOWN__ __UNKNOWN__ 9 88401591 88401591 __UNKNOWN__ lincRNA SNP C C A rs2542779 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:88401591C>A ENST00000443630.1 - 0 203 NA NA NA CTTTCCTCAGCATAAAGGAAG 0.318 NA NA A||| 2201 0.439497 0.5885 0.4337 5008 , , NA 12466 0.3512 NA 0.2584 False NA ,,, NA NA NA 2504 0.5194 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000443630.1: chr9.hg19:g.88401591C>A NA hg19 0.02 3.59283 CAGxATA COVERED NOVEL RP11-213G2.2-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000052899.1 2 3.009854 KEEP 10 0 0 10 353 CC 0.992708 0.992708 0 - 16 47 549 0 0 41.199652 119 60 4345 181 ENST00000443630.1 0.118519 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 94279877 94279877 __UNKNOWN__ IGR SNP C C G rs12003366 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:94279877C>G NA NA RP11-440G5.2 (90451 upstream) : ROR2 (45495 downstream) NA NA NA aatcagcactctgtaaaatgg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.94279877C>G NA hg19 0.02 -0.166687 ACTxTGT COVERED NOVEL 0 1 3.912165 KEEP 0 0 0 13 425 CC 0.994391 0.351961 0 3 60 119 1 0 9.978295 13 60 463 36 0.1875 0.353947 PHF2 5253 __UNKNOWN__ __UNKNOWN__ 9 96434133 96434133 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:96434133C>G ENST00000359246.4 + 18 2715 PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 NA NA liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TGGGAGTAGGCACAGGTGTAG 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF043725 CCDS35069.1 9q22 2013-01-28 ENSG00000197724 ENSG00000197724 5253 Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type 8920 protein-coding gene gene with protein product jumonji C domain-containing histone demethylase 1E, centromere protein 35 604351 NA 10051327, 20129925 Standard NM_005392 NM_005392 NA Approved KIAA0662, JHDM1E, CENP-35 uc004aub.3 O75151 OTTHUMG00000020253 ENST00000359246.4:c.2349-1734C>G chr9.hg19:g.96434133C>G NA Q4VXG0|Q8N3K2|Q9Y6N4 hg19 CCDS35069.1 0.02 -0.174749 AGGxACA UNCOVERED NOVEL PHF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053162.1 1 2.407812 KEEP 3 0 0 8 280 CC 0 0 0 + 4 40 112 0 0 8.786636 16 55 562 45 ENST00000359246.4 0.2 0.387407 OR13F1 138805 __UNKNOWN__ __UNKNOWN__ 9 107267380 107267380 __UNKNOWN__ Silent SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:107267380C>T ENST00000334726.2 + 1 926 c.837C>T c.(835-837)gcC>gcT p.A279A NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 279 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGGTGTATGCCGGACAAACCC 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 73 72 73 NA NA NA 9 NA NA 107267380 2203 4300 6503 SO:0001819 synonymous_variant CCDS35087.1 9q31.1 2013-09-24 ENSG00000186881 ENSG00000186881 138805 GPCR / Class A : Olfactory receptors 14723 protein-coding gene gene with protein product NA NA Standard NM_001004485 NA Approved uc011lvm.2 Q8NGS4 OTTHUMG00000020404 ENST00000334726.2:c.837C>T chr9.hg19:g.107267380C>T NA Q6IF50 hg19 CCDS35087.1 0.02 18.076145 TGCxGGA COVERED NOVEL OR13F1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053475.1 3 8.124457 KEEP 0 0 0 27 858 CC 0.999988 0.999988 0 + 176 60 6222 0 0 586.534958 226 60 7395 494 ENST00000334726.2 0.437811 1 OR13C2 392376 __UNKNOWN__ __UNKNOWN__ 9 107367599 107367599 __UNKNOWN__ Missense_Mutation SNP C C T rs372983641 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:107367599C>T ENST00000542196.1 - 1 352 c.310G>A c.(310-312)Ggc>Agc p.G104S NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 104 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 ATGGCCAAGCCGAGGAACATC 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 170 154 160 NA NA NA 9 NA NA 107367599 2203 4300 6503 SO:0001583 missense CCDS35092.1 9q31.1 2012-10-03 ENSG00000257019 ENSG00000276119 392376 GPCR / Class A : Olfactory receptors 14701 protein-coding gene gene with protein product NA NA Standard NM_001004481 NM_001004481 NA Approved uc011lvq.2 Q8NGS9 OTTHUMG00000020415 ENST00000542196.1:c.310G>A chr9.hg19:g.107367599C>T ENSP00000438815:p.Gly104Ser NA B9EGV8|Q6IF54 hg19 CCDS35092.1 0.02 17.531473 AGCxGAG COVERED . . . . . . . . . . C 0.219 -1.030435 0.02045 . . ENSG00000257019 ENST00000542196 T 0.00922 5.54 3.53 -0.168 0.13343 GPCR, rhodopsin-like superfamily (1); 0.506900 0.14552 U 0.312633 T 0.00271 0.0008 N 0.00106 -2.12 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.44390 -0.9331 10 0.02654 T 1 . 9.834 0.40958 0.7165:0.2835:0.0:0.0 . 104 Q8NGS9 O13C2_HUMAN S 104 ENSP00000438815:G104S ENSP00000438815:G104S G - 1 0 OR13C2 106407420 0.000000 0.05858 0.522000 0.27862 0.928000 0.56348 -1.816000 0.01720 0.142000 0.18901 0.462000 0.41574 GGC NOVEL OR13C2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053489.2 2 8.359317 KEEP 31 2 57 48 1556 CC 1 1 0 - 21 27 690 0 0 42.017523 453 60 14856 663 ENST00000542196.1 0.044304 1 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113312021 113312021 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:113312021C>T ENST00000374469.1 - 2 982 SVEP1_ENST00000302728.8_Intron|SVEP1_ENST00000467821.1_Intron|SVEP1_ENST00000374461.1_Intron|SVEP1_ENST00000401783.2_Intron Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCATATTCAGCAAAGACCTTG 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.718+107G>A chr9.hg19:g.113312021C>T NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 3.982075 CAGxAAA COVERED NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 1 4.814261 KEEP 0 0 0 16 507 CC 0.997832 0.997805 0 - 31 60 1022 0 0 89.785346 71 60 2550 132 ENST00000374469.1 0.303922 0.999973 PTBP3 9991 __UNKNOWN__ __UNKNOWN__ 9 114983874 114983874 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:114983874C>A ENST00000374257.1 - 0 4080 PTBP3_ENST00000458258.1_3'UTR|PTBP3_ENST00000334318.6_3'UTR NM_001163788.2|NM_001244896.1|NM_001244897.1 NP_001157260.1|NP_001231825.1|NP_001231826.1 O95758 PTBP3_HUMAN polypyrimidine tract binding protein 3 NA NA anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380) nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NA TTTTTTTCCTCCTTCATATAC 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023967 CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1 9q32 2013-07-16 2011-11-16 2011-11-16 ENSG00000119314 ENSG00000119314 9991 RNA binding motif (RRM) containing 10253 protein-coding gene gene with protein product 607527 regulator of differentiation (in S. pombe) 1, ROD1 regulator of differentiation 1 (S. pombe) ROD1 NA 10207106 Standard NM_005156 NA Approved DKFZp781I1117 uc004bfx.3 O95758 OTTHUMG00000020503 ENST00000374257.1:c.*2257G>T chr9.hg19:g.114983874C>A NA B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9 hg19 CCDS55332.1 0.02 1.508318 CCTxCTT COVERED NOVEL PTBP3-004 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000053677.1 1 5.717822 KEEP 0 0 0 19 637 CC 0.99986 0.999664 0 - 14 60 477 0 0 37.562707 75 60 2619 130 ENST00000374257.1 0.157303 0.999804 OLFML2A 169611 __UNKNOWN__ __UNKNOWN__ 9 127540410 127540410 __UNKNOWN__ Intron SNP G G A rs74976474 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:127540410G>A ENST00000373580.3 + 1 90 NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A NA NA extracellular matrix organization (GO:0030198) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840) endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 aggccgagacgggcggatcac 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092255 CCDS6857.2, CCDS65129.1 9q34.11 2008-02-05 ENSG00000185585 ENSG00000185585 169611 27270 protein-coding gene gene with protein product 615899 NA 12477932 Standard NM_182487 NM_001282715 NA Approved FLJ00237 uc004bov.3 Q68BL7 OTTHUMG00000020663 ENST00000373580.3:c.90+771G>A chr9.hg19:g.127540410G>A NA Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3 hg19 CCDS6857.2 0.02 -0.052636 GACxGGC UNCOVERED NOVEL OLFML2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054046.2 4 3.905153 KEEP 7 0 0 13 424 GG 0.99257 0.036492 0 + 2 40 72 0 0 6.692845 3 60 100 29 ENST00000373580.3 0.4 0.036766 ENG 2022 __UNKNOWN__ __UNKNOWN__ 9 130587266 130587266 __UNKNOWN__ Intron SNP A A G rs562256665 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:130587266A>G ENST00000373203.4 - 7 1217 ENG_ENST00000344849.3_Intron|ENG_ENST00000480266.1_Intron NM_000118.2|NM_001114753.1|NM_001278138.1 NP_000109.1|NP_001108225.1|NP_001265067.1 P17813 EGLN_HUMAN endoglin NA NA artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060) cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022) activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 AATGGTGGGGAGAGAGGCAGA 0.582 NA NA Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia a||| 1 0.000199681 0 0 5008 , , NA 18586 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA NA 0 58 64 62 NA NA NA 9 NA NA 130587266 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis, AF035753 CCDS6880.1, CCDS48029.1, CCDS75906.1 9q34.11 2014-09-17 2008-09-04 ENSG00000106991 ENSG00000106991 2022 CD molecules 3349 protein-coding gene gene with protein product 131195 Osler-Rendu-Weber syndrome 1 ORW1, ORW NA 8404038, 10548503 Standard NM_001278138 NA Approved END, HHT1, CD105 uc031tfe.1 P17813 OTTHUMG00000020723 ENST00000373203.4:c.817-13T>C chr9.hg19:g.130587266A>G NA Q14248|Q14926|Q5T9C0 hg19 CCDS48029.1 0.02 4.293203 GGGxGAG COVERED NOVEL ENG-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054313.1 0 8.397333 KEEP 0 0 0 28 839 AA 0.999997 0.999992 0 - 31 60 1064 0 0 92.49845 81 60 2889 171 ENST00000373203.4 0.276786 0.999995 RP11-101E3.5 0 __UNKNOWN__ __UNKNOWN__ 9 131704433 131704433 __UNKNOWN__ Intron SNP T T C rs10988162 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:131704433T>C ENST00000482796.1 + 1 94 NA NA NA gaggccgaggtgggcggatga 0.507 NA NA C||| 1843 0.368011 0.4153 0.4294 5008 , , NA 17703 0.2381 NA 0.4105 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000482796.1:c.94+583T>C chr9.hg19:g.131704433T>C NA hg19 0.02 -0.412006 AGGxGGG COVERED NOVEL RP11-101E3.5-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000389758.1 1 2.407421 KEEP 0 0 0 8 254 TT 0.99257 0.934744 0 + 25 60 720 0 0 69.792881 22 60 739 61 ENST00000482796.1 0.531915 0.941741 CRAT 1384 __UNKNOWN__ __UNKNOWN__ 9 131864289 131864289 __UNKNOWN__ Silent SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:131864289C>A ENST00000318080.2 - 6 972 c.678G>T c.(676-678)gcG>gcT p.A226A CRAT_ENST00000464290.1_5'UTR NM_000755.3|NM_001257363.1 NP_000746|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 226 NA carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) AGATCTGATCCGCAGTGAGGG 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 141 115 124 NA NA NA 9 NA NA 131864289 2203 4300 6503 SO:0001819 synonymous_variant X78706 CCDS6919.1 9q34.1 2010-04-27 2010-04-27 ENSG00000095321 ENSG00000095321 1384 2.3.1.7 2342 protein-coding gene gene with protein product 600184 carnitine acetyltransferase NA 7829107 Standard NM_000755 NA Approved CAT1 uc004bxh.3 P43155 OTTHUMG00000147343 ENST00000318080.2:c.678G>T chr9.hg19:g.131864289C>A NA Q5T952|Q9BW16 hg19 CCDS6919.1 0.02 4.299847 ATCxGCA COVERED NOVEL CRAT-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253700.1 0 4.177425 KEEP 0 0 0 14 407 CC 0.995343 0.995343 0 - 51 60 1846 0 0 170.272056 83 60 2795 182 ENST00000318080.2 0.380597 1 FAM78A 286336 __UNKNOWN__ __UNKNOWN__ 9 134151310 134151310 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:134151310C>G ENST00000372271.3 - 1 624 c.257G>C c.(256-258)tGg>tCg p.W86S NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 86 NA NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) GCCAACTACCCAAGTCTCCTT 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 61 54 56 NA NA NA 9 NA NA 134151310 2203 4300 6503 SO:0001583 missense AK095423 CCDS6941.2 9q34 2008-02-05 2005-07-18 2005-07-18 ENSG00000126882 ENSG00000126882 286336 25465 protein-coding gene gene with protein product NA chromosome 9 open reading frame 59 C9orf59 NA 11214971 Standard NM_033387 NM_033387 NA Approved FLJ00024 uc004cak.3 Q5JUQ0 OTTHUMG00000020821 ENST00000372271.3:c.257G>C chr9.hg19:g.134151310C>G ENSP00000361345:p.Trp86Ser NA Q86VQ9|Q9H7P4 hg19 CCDS6941.2 0.02 2.003839 ACCxAAG COVERED . . . . . . . . . . C 21.1 4.099757 0.76983 . . ENSG00000126882 ENST00000372271 . . . 5.02 5.02 0.67125 . 0.000000 0.85682 D 0.000000 T 0.76898 0.4052 L 0.60455 1.87 0.80722 D 1 D 0.76494 0.999 D 0.83275 0.996 T 0.79276 -0.1870 9 0.87932 D 0 -15.3087 17.6901 0.88267 0.0:1.0:0.0:0.0 . 86 Q5JUQ0 FA78A_HUMAN S 86 . ENSP00000361345:W86S W - 2 0 FAM78A 133141131 1.000000 0.71417 0.995000 0.50966 0.354000 0.29330 7.437000 0.80417 2.492000 0.84095 0.655000 0.94253 TGG NOVEL FAM78A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054720.1 1 4.815319 KEEP 0 0 0 16 537 CC 0.997832 0.996943 0 - 30 60 961 0 0 87.849527 48 60 1671 110 ENST00000372271.3 0.384615 0.99911 TSC1 7248 __UNKNOWN__ __UNKNOWN__ 9 135779198 135779198 __UNKNOWN__ Missense_Mutation SNP G G C rs397514869 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:135779198G>C ENST00000298552.3 - 17 2269 c.2048C>G c.(2047-2049)cCt>cGt p.P683R TSC1_ENST00000440111.2_Missense_Mutation_p.P683R|TSC1_ENST00000545250.1_Missense_Mutation_p.P632R NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 683 NA activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596) chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485) p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) ATCTGAAGGAGGAGAGCCTGA 0.493 NA NA D, Mis, N, F, S hamartoma, renal cell Tuberous Sclerosis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Tuberous sclerosis 1 9 9q34 7248 tuberous sclerosis 1 gene E, O 1 Unknown(1) bone(1) 72 72 72 NA NA NA 9 NA NA 135779198 2203 4300 6503 SO:0001583 missense Familial Cancer Database TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease AF013168 CCDS6956.1, CCDS55350.1 9q34 2014-09-17 ENSG00000165699 ENSG00000165699 7248 12362 protein-coding gene gene with protein product 605284 TSC NA 9242607, 10806479 Standard NM_000368 NA Approved KIAA0243, LAM, hamartin uc004cca.2 Q92574 OTTHUMG00000020844 ENST00000298552.3:c.2048C>G chr9.hg19:g.135779198G>C ENSP00000298552:p.Pro683Arg NA B7Z897|Q5VVN5 hg19 CCDS6956.1 0.02 -0.376962 GGAxGAG COVERED . . . . . . . . . . G 21.3 4.135625 0.77662 . . ENSG00000165699 ENST00000298552;ENST00000440111;ENST00000545250 D;D;T 0.82255 -1.59;-1.59;-1.37 5.35 5.35 0.76521 . 0.049214 0.85682 D 0.000000 D 0.89403 0.6705 M 0.68317 2.08 0.80722 D 1 D;D 0.89917 0.999;1.0 D;D 0.79784 0.981;0.993 D 0.86050 0.1525 10 0.17369 T 0.5 -9.7151 18.0479 0.89338 0.0:0.0:1.0:0.0 . 632;683 B7Z897;Q92574 .;TSC1_HUMAN R 683;683;632 ENSP00000298552:P683R;ENSP00000394524:P683R;ENSP00000444017:P632R ENSP00000298552:P683R P - 2 0 TSC1 134769019 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 8.062000 0.89475 2.496000 0.84212 0.557000 0.71058 CCT NOVEL TSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054799.1 1 2.708836 KEEP 0 0 0 9 319 GG 0.99254 0.902287 0 - 12 60 383 0 0 32.963829 31 60 1126 66 ENST00000298552.3 0.27907 0.909069 SARDH 1757 __UNKNOWN__ __UNKNOWN__ 9 136564254 136564254 __UNKNOWN__ Intron SNP A A G rs2502744 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:136564254A>G ENST00000371872.4 - 14 1926 SARDH_ENST00000371868.1_Intron|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000439388.1_Intron NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase NA NA glycine catabolic process (GO:0006546) mitochondrion (GO:0005739) aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) ggatcacctgaggtcaggagt 0.488 NA NA A||| 2187 0.436701 0.3911 0.4841 5008 , , NA 15319 0.4752 NA 0.4563 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6978.1 9q33-q34 2008-02-05 ENSG00000123453 ENSG00000123453 1757 1.5.99.2 10536 protein-coding gene gene with protein product 604455 DMGDHL1 NA 10444331 Standard NM_007101 NA Approved SDH uc004cep.4 Q9UL12 OTTHUMG00000020879 ENST00000371872.4:c.1669-2771T>C chr9.hg19:g.136564254A>G NA B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3 hg19 CCDS6978.1 0.02 -0.026319 CTGxGGT UNCOVERED NOVEL SARDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054931.1 5 2.705615 KEEP 4 0 0 9 274 AA 0 0 0 - 3 60 104 0 0 11.830916 0 0 0 14 ENST00000371872.4 1 0 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137734531 137734531 __UNKNOWN__ 3'UTR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:137734531T>C ENST00000371817.3 + 0 6313 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTATATTTTTTTCTAAATTCA 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.*382T>C chr9.hg19:g.137734531T>C NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 6.722677 TTTxTCT COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 2 12.63494 KEEP 0 0 0 42 1272 TT 1 1 0 + 86 60 3132 0 0 298.215344 101 60 3467 277 ENST00000371817.3 0.459893 1 MIR3689A 100500846 __UNKNOWN__ __UNKNOWN__ 9 137741344 137741344 __UNKNOWN__ RNA SNP C C T rs149892846 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:137741344C>T ENST00000578854.1 - 0 66 NR_037460.1 microRNA 3689a NA NA NA CCAGGAACCACGATATCACAC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 9 2011-09-12 ENSG00000265872 100500846 ncRNAs / Micro RNAs 38904 non-coding RNA RNA, micro NA NA Standard NR_037460 NR_037460 NA Approved hsa-mir-3689a uc022bpb.1 ENST00000578854.1: chr9.hg19:g.137741344C>T NA hg19 0.02 3.594555 CCAxGAT COVERED NOVEL MIR3689A-201 KNOWN basic miRNA NA miRNA 0 3.64455 KEEP 1 1 28 22 707 CC 0.999892 0.999892 0 - 12 39 360 0 0 24.317282 120 60 3953 188 ENST00000578854.1 0.090909 1 AL603650.4 0 __UNKNOWN__ __UNKNOWN__ 9 137741681 137741681 __UNKNOWN__ RNA SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:137741681G>A ENST00000583817.1 - 0 125 NA NA NA CAGGAACCACGATATCACACC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000583817.1: chr9.hg19:g.137741681G>A NA hg19 0.02 1.748752 CACxATA COVERED NOVEL AL603650.4-201 NOVEL basic miRNA NA miRNA 1 4.21244 KEEP 5 0 0 14 436 GG 0.994391 0.9923 0 - 5 40 168 0 0 11.274491 68 60 2141 108 ENST00000583817.1 0.068493 0.997898 DNLZ 728489 __UNKNOWN__ __UNKNOWN__ 9 139255778 139255778 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:139255778C>A ENST00000371739.3 - 0 1087 Q5SXM8 DNLZ_HUMAN DNL-type zinc finger NA NA mitochondrion (GO:0005739) zinc ion binding (GO:0008270) central_nervous_system(1)|prostate(1) 2 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06) TGTGTTTGCTCGCTTTCATAA 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL592301 CCDS35179.1 9q34.3 2013-01-10 2007-12-18 2007-12-18 ENSG00000213221 ENSG00000213221 728489 Zinc fingers 33879 protein-coding gene gene with protein product translocase of inner mitochondrial membrane 15 homolog (yeast), HSP70 escort protein NA chromosome 9 open reading frame 151 C9orf151 NA 21530495, 22162012 Standard NM_001080849 NM_001080849 NA Approved RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP uc004chf.2 Q5SXM8 OTTHUMG00000020931 ENST00000371739.3:c.*729G>T chr9.hg19:g.139255778C>A NA B2RUX5|B9EJE1 hg19 0.02 8.830856 GCTxGCT COVERED NOVEL DNLZ-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000055076.1 2 21.055883 KEEP 0 0 0 70 2230 CC 1 1 0 - 82 60 2747 0 0 250.94662 137 60 4464 377 ENST00000371739.3 0.374429 1 ABCA2 20 __UNKNOWN__ __UNKNOWN__ 9 139902840 139902840 __UNKNOWN__ Intron SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:139902840T>A ENST00000341511.6 - 48 7325 ABCA2_ENST00000371605.3_Intron|ABCA2_ENST00000265662.5_Intron NM_001606.4|NM_212533.2 NP_001597|NP_997698.1 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 NA NA ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGCAGAGCCCTGGACAGCCAT 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 6 8 7 NA NA NA 9 NA NA 139902840 1803 3748 5551 SO:0001627 intron_variant U18235 CCDS43909.1 9q34 2012-03-14 ENSG00000107331 ENSG00000107331 20 ATP binding cassette transporters / subfamily A 32 protein-coding gene gene with protein product 600047 ABC2 NA 8088782 Standard NM_001606 NM_212533 NA Approved uc022bpy.1 Q9BZC7 OTTHUMG00000020958 ENST00000341511.6:c.7275+27A>T chr9.hg19:g.139902840T>A NA A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28 hg19 CCDS43909.1 0.02 6.704051 CCCxGGA COVERED NOVEL ABCA2-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000055199.2 1 9.928221 KEEP 0 0 0 33 994 TT 0.999998 0.999998 0 - 37 60 1228 0 0 106.448672 95 60 3253 236 ENST00000341511.6 0.280303 1 MAN1B1 11253 __UNKNOWN__ __UNKNOWN__ 9 139997008 139997008 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:139997008A>T ENST00000371589.4 + 8 1327 MAN1B1_ENST00000474902.1_Intron NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 NA NA cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) TGTTACACACATTCACGCTGT 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145732 CCDS7029.1 9q34.3 2014-05-27 ENSG00000177239 ENSG00000177239 11253 6823 protein-coding gene gene with protein product endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase 604346 NA 10409699, 10521544 Standard NM_016219 NM_016219 NA Approved MANA-ER, MRT15 uc004cld.3 Q9UKM7 OTTHUMG00000020978 ENST00000371589.4:c.1254+884A>T chr9.hg19:g.139997008A>T NA Q5VSG3|Q9BRS9|Q9Y5K7 hg19 CCDS7029.1 0.02 14.66593 CACxTTC COVERED NOVEL MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055294.2 9 3.499906 KEEP 22 6 183 76 2228 AA 1 1 0 + 17 40 592 2 0 37.675545 339 60 11432 580 ENST00000371589.4 0.047753 1 MAN1B1 11253 __UNKNOWN__ __UNKNOWN__ 9 139997224 139997224 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:139997224G>A ENST00000371589.4 + 8 1327 MAN1B1_ENST00000474902.1_Intron NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 NA NA cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) TTGCAGGCGTGCAGGTCGGTG 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145732 CCDS7029.1 9q34.3 2014-05-27 ENSG00000177239 ENSG00000177239 11253 6823 protein-coding gene gene with protein product endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase 604346 NA 10409699, 10521544 Standard NM_016219 NM_016219 NA Approved MANA-ER, MRT15 uc004cld.3 Q9UKM7 OTTHUMG00000020978 ENST00000371589.4:c.1254+1100G>A chr9.hg19:g.139997224G>A NA Q5VSG3|Q9BRS9|Q9Y5K7 hg19 CCDS7029.1 0.02 24.781872 CGTxCAG COVERED NOVEL MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055294.2 58 23.012053 KEEP 87 19 498 253 8617 GG 1 1 0 + 34 60 1013 1 0 63.255569 480 60 16784 1334 ENST00000371589.4 0.066148 1 MAN1B1 11253 __UNKNOWN__ __UNKNOWN__ 9 139997545 139997545 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:139997545A>G ENST00000371589.4 + 8 1327 MAN1B1_ENST00000474902.1_Intron NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 NA NA cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) GCAGGCGTGCAGGTCGGTGGT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145732 CCDS7029.1 9q34.3 2014-05-27 ENSG00000177239 ENSG00000177239 11253 6823 protein-coding gene gene with protein product endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase 604346 NA 10409699, 10521544 Standard NM_016219 NM_016219 NA Approved MANA-ER, MRT15 uc004cld.3 Q9UKM7 OTTHUMG00000020978 ENST00000371589.4:c.1254+1421A>G chr9.hg19:g.139997545A>G NA Q5VSG3|Q9BRS9|Q9Y5K7 hg19 CCDS7029.1 0.02 23.259827 TGCxGGT COVERED NOVEL MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055294.2 113 6.725943 KEEP 50 13 388 159 4672 AA 1 1 0 + 30 40 866 0 0 48.818846 595 60 20304 1177 ENST00000371589.4 0.048 1 MAN1B1 11253 __UNKNOWN__ __UNKNOWN__ 9 139998437 139998437 __UNKNOWN__ Intron SNP A A G rs200371735 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:139998437A>G ENST00000371589.4 + 9 1327 MAN1B1_ENST00000474902.1_Intron|MAN1B1_ENST00000540391.1_3'UTR NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 NA NA cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) TGTTGCAGGCATGCAGGTCGG 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145732 CCDS7029.1 9q34.3 2014-05-27 ENSG00000177239 ENSG00000177239 11253 6823 protein-coding gene gene with protein product endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase 604346 NA 10409699, 10521544 Standard NM_016219 NM_016219 NA Approved MANA-ER, MRT15 uc004cld.3 Q9UKM7 OTTHUMG00000020978 ENST00000371589.4:c.1255-2140A>G chr9.hg19:g.139998437A>G NA Q5VSG3|Q9BRS9|Q9Y5K7 hg19 CCDS7029.1 0.02 11.11793 GGCxTGC COVERED NOVEL MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055294.2 7 4.814847 KEEP 9 3 109 54 1574 AA 1 1 0 + 19 59 678 0 0 47.252144 244 60 8291 431 ENST00000371589.4 0.072243 1 PNPLA7 375775 __UNKNOWN__ __UNKNOWN__ 9 140440242 140440242 __UNKNOWN__ Intron SNP C C T rs201713279 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr9:140440242C>T ENST00000277531.4 - 3 385 PNPLA7_ENST00000406427.1_Intron|AL365502.1_ENST00000580317.1_RNA NM_152286.3 NP_689499.3 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 NA NA lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634) lysophospholipase activity (GO:0004622) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ctgttatgcccggacagggcc 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK126267 CCDS7045.1, CCDS48070.1 9q34.3 2009-01-12 2006-06-12 2006-06-12 ENSG00000130653 ENSG00000130653 375775 Patatin-like phospholipase domain containing 24768 protein-coding gene gene with protein product 612122 chromosome 9 open reading frame 111 C9orf111 NA 16799181, 12640454, 19029121 Standard NM_152286 XM_005266082 NA Approved FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1 uc010ncj.1 Q6ZV29 OTTHUMG00000020990 ENST00000277531.4:c.198+1039G>A chr9.hg19:g.140440242C>T NA B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5 hg19 CCDS7045.1 0.02 -0.315818 GCCxGGA COVERED NOVEL PNPLA7-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000254787.1 0 4.514054 KEEP 1 0 0 15 487 CC 0.99649 0.815592 0 - 3 40 107 0 0 7.647928 33 60 1145 61 ENST00000277531.4 0.083333 0.818465 AKR1C2 1646 __UNKNOWN__ __UNKNOWN__ 10 5030956 5030956 __UNKNOWN__ 3'UTR SNP A A G rs11252868 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:5030956A>G ENST00000380753.4 - 0 2391 NM_205845.2 NP_995317.1 P52895 AK1C2_HUMAN aldo-keto reductase family 1, member C2 NA NA cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202) cytoplasm (GO:0005737) alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115) breast(1)|large_intestine(5)|lung(3)|skin(1) 10 Ursodeoxycholic acid(DB01586) GATCATTAAGACATGAGATTA 0.343 NA NA a||| 971 0.19389 0.2156 0.2017 5008 , , NA 17414 0.0268 NA 0.3052 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L32592 CCDS7062.1, CCDS44350.1 10p15-p14 2014-01-29 2012-12-04 ENSG00000151632 ENSG00000151632 1646 1.3.1.20, 1.1.1.213 Aldo-keto reductases 385 protein-coding gene gene with protein product dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III 600450 aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III), testicular 17,20-desmolase deficiency DDH2, TDD NA 9716498, 21802064 Standard NM_001354 NM_001354 NA Approved DD, BABP, DD2, HAKRD, MCDR2 uc001iht.3 P52895 OTTHUMG00000017584 ENST00000380753.4:c.*1232T>C chr10.hg19:g.5030956A>G NA A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71 hg19 CCDS7062.1 0.02 20.844509 AAGxCAT COVERED NOVEL AKR1C2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046531.1 1 9.961642 KEEP 2 1 34 45 1371 AA 1 1 0 - 23 47 773 0 0 47.921113 489 60 16562 683 ENST00000380753.4 0.044922 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 5346772 5346772 __UNKNOWN__ IGR SNP G G A rs11253089 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:5346772G>A NA NA AKR1C7P (18884 upstream) : UCN3 (60199 downstream) NA NA NA AAGGCGCATTGAAATGCCTTT 0.483 NA NA G||| 1875 0.374401 0.32 0.196 5008 , , NA 19732 0.619 NA 0.2306 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.5346772G>A NA hg19 0.02 2.052855 ATTxAAA COVERED NOVEL 0 1 2.407806 KEEP 0 0 0 8 278 GG 0.99257 0.98219 0 13 60 451 0 0 37.57976 48 60 1741 90 0.213115 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 7109618 7109618 __UNKNOWN__ IGR SNP T T C rs112044658 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:7109618T>C NA NA RP11-799O21.2 (147184 upstream) : RP11-393K12.2 (29495 downstream) NA NA NA gatggggttttgccatgtttc 0.512 NA NA C||| 183 0.0365415 0.1248 0.0043 5008 , , NA 16731 0 NA 0.001 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.7109618T>C NA hg19 0.02 -0.096501 TTTxGCC UNCOVERED NOVEL 0 1 2.406863 KEEP 0 0 0 8 239 TT 0.99257 0.119541 0 3 60 102 0 0 8.832178 8 60 283 25 0.272727 0.120436 GATA3 2625 __UNKNOWN__ __UNKNOWN__ 10 8116380 8116380 __UNKNOWN__ 3'UTR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:8116380A>T ENST00000379328.3 + 0 2297 GATA3_ENST00000346208.3_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 NA NA anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281) nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270) NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 GTGGAAATTAAGAAGAAACTA 0.343 NA NA F, N, S breast HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Rec yes 10 10p15 2625 GATA binding protein 3 yes E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X55122 CCDS7083.1, CCDS31143.1 10p15 2013-01-25 2001-11-28 ENSG00000107485 ENSG00000107485 2625 GATA zinc finger domain containing 4172 protein-coding gene gene with protein product 131320 GATA-binding protein 3 NA 2050118, 15087456 Standard NM_001002295 NM_002051 NA Approved HDR uc001ijz.3 P23771 OTTHUMG00000017640 ENST00000379328.3:c.*394A>T chr10.hg19:g.8116380A>T NA Q5VWG7|Q5VWG8|Q96J16 hg19 CCDS31143.1 0.02 6.035745 TTAxGAA COVERED NOVEL GATA3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000046718.1 1 4.513823 KEEP 0 0 0 15 476 AA 0.99649 0.99649 0 + 57 60 2033 0 0 179.330412 138 60 5008 267 ENST00000379328.3 0.292308 1 PROSER2 254427 __UNKNOWN__ __UNKNOWN__ 10 11911551 11911551 __UNKNOWN__ Missense_Mutation SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:11911551C>A ENST00000277570.5 + 4 608 c.454C>A c.(454-456)Ccc>Acc p.P152T PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA NM_153256.3 NP_694988.3 Q86WR7 PRSR2_HUMAN proline and serine rich 2 152 Pro-rich. NA NA ACCTCCAGACCCCCCGGCTCC 0.697 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 31 36 34 NA NA NA 10 NA NA 11911551 2203 4300 6503 SO:0001583 missense BC017269 CCDS7085.1 10p14 2014-02-19 2014-02-19 2012-12-05 ENSG00000148426 ENSG00000148426 254427 23728 protein-coding gene gene with protein product NA chromosome 10 open reading frame 47, proline and serine-rich protein 2 C10orf47 NA 12477932 Standard NM_153256 NM_153256 NA Approved MGC35403 uc001ikx.3 Q86WR7 OTTHUMG00000017673 ENST00000277570.5:c.454C>A chr10.hg19:g.11911551C>A ENSP00000277570:p.Pro152Thr NA D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317 hg19 CCDS7085.1 0.02 8.098169 GACxCCC COVERED . . . . . . . . . . C 10.59 1.393416 0.25205 . . ENSG00000148426 ENST00000379208;ENST00000277570;ENST00000379202 T 0.07908 3.15 5.34 -10.7 0.00240 . 0.823135 0.10902 N 0.621477 T 0.05135 0.0137 L 0.34521 1.04 0.09310 N 0.999992 B 0.29552 0.248 B 0.28991 0.097 T 0.27157 -1.0082 10 0.87932 D 0 -10.2221 9.2325 0.37446 0.0:0.4161:0.4115:0.1724 . 152 Q86WR7 CJ047_HUMAN T 152 ENSP00000277570:P152T ENSP00000277570:P152T P + 1 0 C10orf47 11951557 0.000000 0.05858 0.000000 0.03702 0.043000 0.13939 -0.250000 0.08830 -2.587000 0.00458 -0.336000 0.08194 CCC NOVEL PROSER2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090189.2 1 14.142063 KEEP 0 0 0 47 1534 CC 1 1 0 + 62 60 1988 0 0 171.123813 161 60 5616 356 ENST00000277570.5 0.278027 1 FRMD4A 55691 __UNKNOWN__ __UNKNOWN__ 10 14126388 14126388 __UNKNOWN__ Intron SNP C C T rs544711483 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:14126388C>T ENST00000357447.2 - 3 414 FRMD4A_ENST00000378503.1_Intron|RP11-397C18.2_ENST00000451617.1_RNA|FRMD4A_ENST00000493380.1_Intron NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A NA NA establishment of epithelial cell polarity (GO:0090162) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923) breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 tcaagtgatccgcctgccttg 0.498 NA NA C||| 3 0.000599042 0 0 5008 , , NA 16742 0 NA 0.003 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037715 CCDS7101.1 10p14 2004-07-15 2004-07-15 2004-07-15 ENSG00000151474 ENSG00000151474 55691 25491 protein-coding gene gene with protein product NA FERM domain containing 4 FRMD4 NA 10718198 Standard NM_018027 NM_018027 NA Approved FLJ10210, KIAA1294, bA295P9.4 uc001ims.3 Q9P2Q2 OTTHUMG00000017708 ENST00000357447.2:c.46-225476G>A chr10.hg19:g.14126388C>T NA A7E2Y3|Q5T377 hg19 CCDS7101.1 0.02 -0.043828 ATCxGCC UNCOVERED NOVEL FRMD4A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000046889.1 4 2.707859 KEEP 3 0 0 9 276 CC 0 0 0 - 3 60 90 0 0 8.965538 2 60 71 20 ENST00000357447.2 0.6 0.024074 EBLN1 340900 __UNKNOWN__ __UNKNOWN__ 10 22497850 22497850 __UNKNOWN__ Missense_Mutation SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:22497850T>A ENST00000422359.2 - 1 1100 c.1063A>T c.(1063-1065)Aac>Tac p.N355Y NM_001199938.1 NP_001186867.1 P0CF75 EBLN1_HUMAN endogenous Bornavirus-like nucleoprotein 1 355 NA NA CGAAGGATGTTAAGTGTATAT 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AA813437 CCDS60498.1 10p12.31 2013-01-30 ENSG00000223601 ENSG00000223601 340900 39430 protein-coding gene gene with protein product endogenous Borna-like N element 1 613249 NA 20054395, 20686665 Standard NM_001199938 NM_001199938 NA Approved uc021pob.1 P0CF75 OTTHUMG00000017801 ENST00000422359.2:c.1063A>T chr10.hg19:g.22497850T>A ENSP00000473842:p.Asn355Tyr NA S4R316 hg19 0.02 17.079337 TGTxAAG COVERED NOVEL EBLN1-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000047154.3 1 6.919063 KEEP 0 0 0 23 689 TT 0.999892 0.999892 0 - 126 60 4159 0 0 362.165029 310 60 10723 575 ENST00000422359.2 0.288991 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 22542092 22542092 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:22542092C>G NA NA RP11-108B14.5 (31995 upstream) : RP11-573G6.6 (4622 downstream) NA NA NA CGCGCCCACCCCCGTTATTCT 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.22542092C>G NA hg19 0.02 21.700042 ACCxCCG COVERED NOVEL 0 2 77.553216 KEEP 0 0 0 258 8737 CC 1 1 0 106 60 3508 0 0 285.999092 427 60 14902 1055 0.198874 1 ENKUR 219670 __UNKNOWN__ __UNKNOWN__ 10 25273116 25273116 __UNKNOWN__ 3'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:25273116C>G ENST00000331161.4 - 0 1173 NM_145010.3 NP_659447.1 Q8TC29 ENKUR_HUMAN enkurin, TRPC channel interacting protein NA NA motile cilium (GO:0031514) endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 TACAGTGTTACGAATACTGAA 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095021 CCDS7146.1, CCDS73075.1 10p12.31 2014-08-13 2009-04-28 2009-04-28 ENSG00000151023 ENSG00000151023 219670 28388 protein-coding gene gene with protein product 611025 chromosome 10 open reading frame 63 C10orf63 NA 17217053, 15385169 Standard NM_145010 NM_145010 NA Approved MGC26778, enkurin, CFAP106 uc001isg.2 Q8TC29 OTTHUMG00000017827 ENST00000331161.4:c.*183G>C chr10.hg19:g.25273116C>G NA A8K8Y0|D3DRV2 hg19 CCDS7146.1 0.02 18.091126 TTAxGAA COVERED NOVEL ENKUR-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047239.2 0 18.357653 KEEP 0 0 0 61 2026 CC 1 1 0 - 125 60 4520 1 0 396.779702 321 60 10912 547 ENST00000331161.4 0.280269 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 38816702 38816702 __UNKNOWN__ IGR SNP G G T rs144267389 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:38816702G>T NA NA RP11-291L22.4 (61598 upstream) : None (None downstream) NA NA NA gtgtggaacggaatggacacg 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.38816702G>T NA hg19 0.02 -0.131594 ACGxAAT COVERED NOVEL 0 2 3.611805 KEEP 0 0 0 12 422 GG 0.993634 0.227714 0 4 60 135 0 0 12.99988 4 60 145 36 0.5 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42383303 42383303 __UNKNOWN__ IGR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42383303A>C NA NA None (None upstream) : AL031601.1 (347047 downstream) NA NA NA aatggaatcgaatggattcat 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42383303A>C NA hg19 0.02 2.04442 TCGxATG COVERED NOVEL 0 59 12.860166 KEEP 48 1 38 56 1667 AA 0.999988 0.990952 0 5 44 184 0 0 14.186487 36 47 1166 182 0.121951 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42387182 42387182 __UNKNOWN__ IGR SNP C C T rs74184219|rs140863694 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42387182C>T NA NA None (None upstream) : AL031601.1 (343168 downstream) NA NA NA caaatggaaccgaatggaatc 0.338 NA NA .||| 2 0.000399361 8e-04 0.0014 5008 , , NA 86685 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42387182C>T NA hg19 0.02 10.596592 AACxGAA COVERED NOVEL 0 12 6.488922 KEEP 158 2 61 43 1406 CC 0.999909 0.999909 0 11 40 376 0 0 25.527623 147 49 4821 496 0.06962 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42388326 42388326 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42388326A>G NA NA None (None upstream) : AL031601.1 (342024 downstream) NA NA NA attgaaacgaatggaattatc 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42388326A>G NA hg19 0.02 23.209744 CGAxTGG COVERED NOVEL 0 100 17.791354 KEEP 350 10 334 176 5549 AA 1 1 0 18 40 648 0 0 42.919358 318 48 10944 1240 0.053571 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42389398 42389398 __UNKNOWN__ IGR SNP C C T rs142816993 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42389398C>T NA NA None (None upstream) : AL031601.1 (340952 downstream) NA NA NA caaatggaaccgaatggaatc 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42389398C>T NA hg19 0.02 14.605476 AACxGAA COVERED NOVEL 0 59 3.627699 KEEP 239 9 264 105 3352 CC 0.999999 0.999999 0 13 40 424 0 0 26.305194 251 60 8004 764 0.049242 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42392245 42392245 __UNKNOWN__ IGR SNP C C T rs28788857 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42392245C>T NA NA None (None upstream) : AL031601.1 (338105 downstream) NA NA NA tgatcatcatcgaatggactc 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42392245C>T NA hg19 0.02 5.200566 CATxGAA COVERED NOVEL 0 20 10.966772 KEEP 106 1 30 47 1489 CC 0.999957 0.999957 0 13 60 436 2 0 37.359571 37 60 1282 352 0.26 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42392336 42392336 __UNKNOWN__ IGR SNP A A G rs138629488 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42392336A>G NA NA None (None upstream) : AL031601.1 (338014 downstream) NA NA NA attgaaacgaatggaattatc 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42392336A>G NA hg19 0.02 11.312004 CGAxTGG COVERED NOVEL 0 62 22.827919 KEEP 198 2 75 102 3096 AA 1 1 0 7 40 263 0 0 18.162131 109 60 3758 778 0.060345 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42392701 42392701 __UNKNOWN__ IGR SNP C C G rs1141204 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42392701C>G NA NA None (None upstream) : AL031601.1 (337649 downstream) NA NA NA atcgaatggactcaaatggaa 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42392701C>G NA hg19 0.02 23.761787 GGAxTCA COVERED NOVEL 0 190 7.885498 KEEP 114 13 458 186 6532 CC 1 1 0 23 60 835 0 0 55.127957 424 60 15477 1285 0.051454 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42392729 42392729 __UNKNOWN__ IGR SNP C C G rs143507773 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42392729C>G NA NA None (None upstream) : AL031601.1 (337621 downstream) NA NA NA caaatggaatcgaatggaatt 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42392729C>G NA hg19 0.02 26.972782 AATxGAA COVERED NOVEL 0 195 9.828319 KEEP 89 14 470 197 6379 CC 1 1 0 16 49 572 1 0 34.018736 490 60 17022 1265 0.031621 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42400599 42400599 __UNKNOWN__ IGR SNP A A T rs1813810 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42400599A>T NA NA None (None upstream) : AL031601.1 (329751 downstream) NA NA NA aactagacagaatcattctca 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42400599A>T NA hg19 0.02 27.292223 CAGxATC COVERED NOVEL 0 74 58.606037 KEEP 148 13 372 326 10215 AA 1 1 0 12 40 392 0 0 35.152111 23 60 770 1458 0.342857 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42528017 42528017 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42528017A>G NA NA None (None upstream) : AL031601.1 (202333 downstream) NA NA NA tcttctgtctagcattatatg 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42528017A>G NA hg19 0.02 27.779428 TCTxGCA COVERED NOVEL 0 325 36.404327 KEEP 161 18 621 338 10426 AA 1 1 0 15 57 534 1 1 44.068358 62 60 2213 1524 0.194805 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42528054 42528054 __UNKNOWN__ IGR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42528054T>A NA NA None (None upstream) : AL031601.1 (202296 downstream) NA NA NA aacgaaggcctcaaagaggtc 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42528054T>A NA hg19 0.02 26.355291 GCCxCAA COVERED NOVEL 0 364 36.556834 KEEP 172 19 594 330 10546 CT 1 1 0 13 54 430 1 0 33.275524 74 60 2599 1556 0.149425 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42533611 42533611 __UNKNOWN__ IGR SNP T T G rs4112715|rs71232576|rs71273001|rs202004630 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42533611T>G NA NA None (None upstream) : AL031601.1 (196739 downstream) NA NA NA ctgagaatgattttgtctagt 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42533611T>G NA hg19 0.02 -0.412138 TGAxTTT COVERED NOVEL 0 13 2.240681 KEEP 26 1 30 18 571 TT 0.993634 0.935746 0 2 23 73 0 0 7.424848 1 16 36 114 0.666667 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42599160 42599160 __UNKNOWN__ IGR SNP A A C rs148665538 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42599160A>C NA NA None (None upstream) : AL031601.1 (131190 downstream) NA NA NA aaatggaatcaaatggaatta 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42599160A>C NA hg19 0.02 -0.228087 ATCxAAT COVERED NOVEL 0 27 5.113041 KEEP 41 0 0 17 490 AG 0.992708 0.712085 0 3 25 96 0 0 7.51063 15 47 536 121 0.166667 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42599767 42599767 __UNKNOWN__ IGR SNP A A C rs139875229 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42599767A>C NA NA None (None upstream) : AL031601.1 (130583 downstream) NA NA NA aatgaattgaatgcaatcatc 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42599767A>C NA hg19 0.02 34.719154 TGAxTGC COVERED NOVEL 0 140 16.759169 KEEP 199 27 943 385 11744 AA 1 1 0 21 60 766 2 0 49.863209 425 60 14723 1503 0.047085 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42599820 42599820 __UNKNOWN__ IGR SNP A A T rs141956116 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:42599820A>T NA NA None (None upstream) : AL031601.1 (130530 downstream) NA NA NA aatggaatggaatcatcgcat 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.42599820A>T NA hg19 0.02 28.007155 TGGxATC COVERED NOVEL 0 127 68.273287 KEEP 195 9 261 319 9696 AA 1 1 0 17 49 577 1 0 34.663346 418 60 14410 1416 0.03908 1 ALOX5 240 __UNKNOWN__ __UNKNOWN__ 10 45939632 45939632 __UNKNOWN__ Silent SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:45939632C>A ENST00000374391.2 + 13 1796 c.1743C>A c.(1741-1743)ggC>ggA p.G581G ALOX5_ENST00000542434.1_Intron NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 581 Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}. NA arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965) arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506) breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744) CTGCCAAGGGCGTGGTGACCA 0.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 18 16 17 NA NA NA 10 NA NA 45939632 2155 4246 6401 SO:0001819 synonymous_variant J03571 CCDS7212.1, CCDS58078.1 10q11.2 2008-03-18 ENSG00000012779 ENSG00000012779 240 1.13.11.34 Arachidonate lipoxygenases 435 protein-coding gene gene with protein product 152390 NA 2565035 Standard NM_001256153 NA Approved 5-LOX uc001jce.4 P09917 OTTHUMG00000018081 ENST00000374391.2:c.1743C>A chr10.hg19:g.45939632C>A NA B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14 hg19 CCDS7212.1 0.02 1.8864 GGGxGTG COVERED NOVEL ALOX5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047780.1 0 5.116391 KEEP 0 0 0 17 584 CC 0.999366 0.998585 0 + 37 60 1262 0 0 119.850387 43 60 1468 134 ENST00000374391.2 0.4625 0.999218 IPMK 253430 __UNKNOWN__ __UNKNOWN__ 10 59986805 59986805 __UNKNOWN__ Splice_Site SNP G G A rs61749177 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:59986805G>A ENST00000373935.3 - 3 694 c.372C>T c.(370-372)aaC>aaT p.N124N NM_152230.4 NP_689416.1 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 124 NA inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281) nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 CAAGATTACCGTTTGGTGCAG 0.328 NA NA g||| 21 0.00419329 8e-04 0.0072 5008 , , NA 16497 0 NA 0.0099 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA NA 0 A 11,4395 16.8+/-37.8 0,11,2192 89 92 91 NA 372 -0.6 1 10 dbSNP_129 91 141,8459 68.7+/-131.2 0,141,4159 yes coding-synonymous-near-splice IPMK NM_152230.4 0,152,6351 AA,AG,GG NA 1.6395,0.2497,1.1687 124/417 59986805 152,12854 2203 4300 6503 SO:0001630 splice_region_variant AF432853 CCDS7250.1 10q21.1 2010-11-29 2004-07-22 ENSG00000151151 ENSG00000151151 253430 20739 protein-coding gene gene with protein product 609851 NA 12223481, 12027805 Standard NM_152230 NM_152230 NA Approved uc001jkb.3 Q8NFU5 OTTHUMG00000018268 ENST00000373935.3:c.373+1C>T chr10.hg19:g.59986805G>A NA hg19 CCDS7250.1 0.02 -0.377181 ACCxTTT COVERED NOVEL IPMK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048142.1 1 2.406836 KEEP 0 0 0 8 250 GG 0.99257 0.902315 0 Silent - 6 60 214 0 0 16.717473 37 60 1189 59 ENST00000373935.3 0.139535 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 60160169 60160169 __UNKNOWN__ IGR SNP T T G rs201110893 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:60160169T>G NA NA TFAM (1188 upstream) : BICC1 (112730 downstream) NA NA NA GCCCTTAAGGTGGTTGGAGAG 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.60160169T>G NA hg19 0.02 -0.428895 AGGxGGT COVERED NOVEL 0 2 2.697029 KEEP 0 0 0 9 245 TT 0.99254 0.947371 0 5 60 115 0 1 6.908605 44 60 1271 68 0.102041 0.954491 CCAR1 55749 __UNKNOWN__ __UNKNOWN__ 10 70549616 70549616 __UNKNOWN__ Nonsense_Mutation SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:70549616A>T ENST00000265872.6 + 24 3456 c.3337A>T c.(3337-3339)Aag>Tag p.K1113* CCAR1_ENST00000535016.1_Nonsense_Mutation_p.K1098*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.K1098* NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 1113 NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 CCAAATGAATAAGACAATCAG 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 50 54 53 NA NA NA 10 NA NA 70549616 2201 4287 6488 SO:0001587 stop_gained AY249140 CCDS7282.1, CCDS60547.1 10q22.1 2004-02-19 ENSG00000060339 ENSG00000060339 55749 24236 protein-coding gene gene with protein product 612569 NA 12816952 Standard NM_018237 NM_018237 NA Approved FLJ10590, CARP-1, CARP1 uc001joo.3 Q8IX12 OTTHUMG00000018361 ENST00000265872.6:c.3337A>T chr10.hg19:g.70549616A>T ENSP00000265872:p.Lys1113* NA A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6 hg19 CCDS7282.1 0.02 -0.412314 AATxAGA COVERED . . . . . . . . . . A 41 8.725642 0.98929 . . ENSG00000060339 ENST00000265872;ENST00000535016;ENST00000543719 . . . 5.75 5.75 0.90469 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -16.3397 16.0405 0.80679 1.0:0.0:0.0:0.0 . . . . X 1113;1098;1098 . ENSP00000265872:K1113X K + 1 0 CCAR1 70219622 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 6.741000 0.74837 2.188000 0.69820 0.477000 0.44152 AAG NOVEL CCAR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048356.2 0 3.008682 KEEP 0 0 0 10 298 AA 0.992708 0.934874 0 + 16 60 543 0 0 48.842809 31 60 1089 76 ENST00000265872.6 0.340426 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 79497757 79497757 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:79497757G>T NA NA KCNMA1 (99404 upstream) : RNU6-1266P (38951 downstream) NA NA NA tagttttacagttgaggaagc 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.79497757G>T NA hg19 0.02 4.310832 ACAxTTG COVERED NOVEL 0 0 2.70893 KEEP 0 0 0 9 324 GG 0.99254 0.992534 0 47 60 1653 0 0 155.120426 63 60 2274 135 0.427273 0.999994 ZMIZ1 57178 __UNKNOWN__ __UNKNOWN__ 10 80975913 80975913 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:80975913C>G ENST00000334512.5 + 7 746 NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 NA NA artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296) cytoplasm (GO:0005737)|nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCCTCCTCCCCTCTTGCTTTC 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 62 49 53 NA NA NA 10 NA NA 80975913 2203 4300 6503 SO:0001627 intron_variant AB033050 CCDS7357.1 10q22.3 2012-11-30 2006-10-24 2006-10-24 ENSG00000108175 ENSG00000108175 57178 Zinc fingers, MIZ-type 16493 protein-coding gene gene with protein product 607159 retinoic acid induced 17 RAI17 NA 15626329 Standard NM_020338 NM_020338 NA Approved RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ uc001kaf.2 Q9ULJ6 OTTHUMG00000018560 ENST00000334512.5:c.175-13C>G chr10.hg19:g.80975913C>G NA Q5JSH9|Q7Z7E6 hg19 CCDS7357.1 0.02 6.559416 CCCxTCT COVERED NOVEL ZMIZ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048944.2 0 18.658114 KEEP 0 0 0 62 2048 CC 1 1 0 + 64 60 1942 0 0 173.227291 119 60 4105 282 ENST00000334512.5 0.349727 1 TMEM254 80195 __UNKNOWN__ __UNKNOWN__ 10 81850814 81850814 __UNKNOWN__ 3'UTR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:81850814A>T ENST00000372281.3 + 0 543 TMEM254_ENST00000372275.1_3'UTR|TMEM254_ENST00000467529.1_3'UTR NM_001270372.1|NM_025125.3 NP_001257301.1|NP_079401.2 Q8TBM7 TM254_HUMAN transmembrane protein 254 NA NA integral component of membrane (GO:0016021) NA CCCCCTCGTTAGTCAGTTTTT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC022252 CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1 10q23.1 2012-11-06 2012-11-06 2012-11-06 ENSG00000133678 ENSG00000133678 80195 25804 protein-coding gene gene with protein product NA chromosome 10 open reading frame 57 C10orf57 NA 14702039 Standard NM_025125 NM_025125 NA Approved FLJ13263, bA369J21.6 uc010qlw.3 Q8TBM7 OTTHUMG00000018602 ENST00000372281.3:c.*141A>T chr10.hg19:g.81850814A>T NA D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6 hg19 CCDS7363.1 0.02 22.67857 GTTxGTC COVERED NOVEL TMEM254-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049030.1 1 20.728559 KEEP 0 0 0 69 2031 AA 1 1 0 + 15 60 526 0 0 29.289271 588 60 20256 807 ENST00000372281.3 0.024876 1 PLAC9 219348 __UNKNOWN__ __UNKNOWN__ 10 81903775 81903775 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:81903775A>T ENST00000372263.3 + 3 204 PLAC9_ENST00000372270.2_Intron|PLAC9_ENST00000372267.2_Intron NM_001012973.1 NP_001012991.1 Q5JTB6 PLAC9_HUMAN placenta-specific 9 NA NA extracellular region (GO:0005576) kidney(1)|ovary(1) 2 Prostate(51;0.0095)|all_epithelial(25;0.175) Colorectal(32;0.109) GGAGCCTTAGAGAGCAAGCCC 0.517 NA NA OREG0020321 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31232.1 10q23.2 2008-02-04 ENSG00000189129 ENSG00000189129 219348 19255 protein-coding gene gene with protein product 612857 NA Standard NM_001012973 NM_001012973 NA Approved uc001kbp.1 Q5JTB6 OTTHUMG00000018596 ENST00000372263.3:c.163-204A>T chr10.hg19:g.81903775A>T 1209 hg19 CCDS31232.1 0.02 1.86236 TAGxGAG COVERED NOVEL PLAC9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000049019.1 1 3.610521 KEEP 0 0 0 12 364 AA 0.993634 0.981653 0 + 27 60 854 0 0 80.338304 33 60 1139 72 ENST00000372263.3 0.45 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 81993310 81993310 __UNKNOWN__ IGR SNP T T C rs2945447 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:81993310T>C NA NA LINC00857 (13897 upstream) : AL359195.1 (16155 downstream) NA NA NA cacctcagcctcccaaagtgc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.81993310T>C NA hg19 0.02 -0.184234 GCCxCCC COVERED NOVEL 0 0 3.00862 KEEP 0 0 0 10 304 TT 0.992708 0.42039 0 3 27 99 0 0 7.591833 18 60 651 34 0.142857 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 81993410 81993410 __UNKNOWN__ IGR SNP T T C rs2945446 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:81993410T>C NA NA LINC00857 (13997 upstream) : AL359195.1 (16055 downstream) NA NA NA CCTCTGCCCTTGTTCTGCAGG 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.81993410T>C NA hg19 0.02 1.780888 CCTxGTT COVERED NOVEL 0 1 2.706386 KEEP 0 0 0 9 262 TT 0.99254 0.992422 0 8 27 269 0 0 18.919545 84 60 2923 126 0.086957 0.999881 BMPR1A 657 __UNKNOWN__ __UNKNOWN__ 10 88684422 88684422 __UNKNOWN__ 3'UTR SNP A A G rs61856966 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:88684422A>G ENST00000372037.3 + 0 3082 NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA NA NA BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179) dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 ACCATGTTCTATATTCTTTAT 0.323 NA NA Mis, N, F gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(190;603 2086 22044 30335 47971) yes Rec Juvenile polyposis 10 10q22.3 657 bone morphogenetic protein receptor, type IA E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl.: Juvenile Polyposis of the Stomach;HMPS2 BC028383 CCDS7378.1 10q22.3 2014-09-17 ENSG00000107779 ENSG00000107779 657 CD molecules 1076 protein-coding gene gene with protein product 601299 ACVRLK3 NA 8397373, 9730621 Standard NM_004329 NM_004329 NA Approved ALK3, CD292 uc001kdy.3 P36894 OTTHUMG00000018657 ENST00000372037.3:c.*946A>G chr10.hg19:g.88684422A>G NA A8K6U9|Q8NEN8 hg19 CCDS7378.1 0.02 17.967241 TCTxTAT COVERED NOVEL BMPR1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049170.3 7 7.28932 KEEP 32 2 68 48 1455 AA 1 1 0 + 33 40 1189 0 0 85.078126 370 60 12449 552 ENST00000372037.3 0.081886 1 IDE 3416 __UNKNOWN__ __UNKNOWN__ 10 94246836 94246836 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:94246836A>C ENST00000265986.6 - 13 1713 IDE_ENST00000496903.1_Intron|IDE_ENST00000371581.5_Intron NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme NA NA beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032) cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 "Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030) TTTGTCACCTATTAGGATGTG 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M21188 CCDS7421.1, CCDS53554.1 10q23-q25 2007-03-27 ENSG00000119912 ENSG00000119912 3416 5381 protein-coding gene gene with protein product insulysin 146680 NA 2293021 Standard NM_004969 NM_004969 NA Approved uc001kia.3 P14735 OTTHUMG00000018759 ENST00000265986.6:c.1656+116T>G chr10.hg19:g.94246836A>C NA B2R721|B7ZAU2|D3DR35|Q5T5N2 hg19 CCDS7421.1 0.02 6.287492 CCTxTTA COVERED NOVEL IDE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049393.1 1 4.485233 KEEP 0 0 0 15 410 AA 0.99649 0.99649 0 - 7 60 253 0 0 16.219597 150 60 5006 178 ENST00000265986.6 0.044586 1 TCTN3 26123 __UNKNOWN__ __UNKNOWN__ 10 97453092 97453092 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:97453092C>G ENST00000371217.5 - 2 404 TCTN3_ENST00000265993.9_Intron|TCTN3_ENST00000430368.2_Intron|TCTN3_ENST00000371209.5_Intron Q6NUS6 TECT3_HUMAN tectonic family member 3 NA NA apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) AGGATTCAGTCTGAGCAACGA 0.498 NA NA OREG0020392 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 50 44 46 NA NA NA 10 NA NA 97453092 692 1591 2283 SO:0001627 intron_variant AK098295 CCDS31258.2, CCDS44461.1 10q24.1 2014-01-28 2007-08-20 2007-08-20 ENSG00000119977 ENSG00000119977 26123 Tectonic proteins 24519 protein-coding gene gene with protein product 613847 chromosome 10 open reading frame 61 C10orf61 NA 12975309 Standard NM_015631 NM_015631 NA Approved DKFZP564D116, TECT3, JBTS18 uc001klb.4 Q6NUS6 OTTHUMG00000018814 ENST00000371217.5:c.380+17G>C chr10.hg19:g.97453092C>G 1328 A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1 hg19 CCDS31258.2 0.02 9.352607 AGTxTGA COVERED NOVEL TCTN3-009 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000471858.1 4 16.250952 KEEP 0 0 0 54 1860 CC 1 1 0 - 50 60 1806 0 0 155.008293 155 60 5581 334 ENST00000371217.5 0.243902 1 NDUFB8 4714 __UNKNOWN__ __UNKNOWN__ 10 102288991 102288991 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:102288991A>C ENST00000299166.4 - 2 225 SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000531258.1_Intron|NDUFB8_ENST00000370320.4_Intron|NDUFB8_ENST00000557395.1_Intron|NDUFB8_ENST00000370322.1_Intron NM_005004.2 NP_004995.1 O95169 NDUB8_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) endometrium(2)|lung(2) 4 Colorectal(252;0.234) Epithelial(162;5.68e-10)|all cancers(201;4.05e-08) CCCCCCTCCCACCTCCCTCCA 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044958 CCDS7497.1, CCDS65916.1, CCDS65917.1 10q24.31 2011-07-04 2002-08-29 ENSG00000166136 ENSG00000166136 4714 Mitochondrial respiratory chain complex / Complex I 7703 protein-coding gene gene with protein product complex I ASHI subunit 602140 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI) NA 9763676 Standard NM_005004 NM_001284368 NA Approved ASHI, CI-ASHI uc001kri.1 O95169 OTTHUMG00000019346 ENST00000299166.4:c.212+145T>G chr10.hg19:g.102288991A>C NA A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3 hg19 CCDS7497.1 0.02 -0.337809 CCCxCCT COVERED NOVEL NDUFB8-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051225.1 0 2.6883 KEEP 0 0 0 9 221 AA 0.99254 0.859287 0 - 6 60 109 0 0 7.063364 27 60 796 64 ENST00000299166.4 0.181818 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 104145801 104145801 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:104145801C>T NA NA GBF1 (3145 upstream) : NFKB2 (8427 downstream) NA NA NA tgagatcagcctgggcaacat 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.104145801C>T NA hg19 0.02 -0.052638 AGCxTGG UNCOVERED NOVEL 0 12 2.407903 KEEP 5 0 0 8 284 CC 0 0 0 2 22 69 0 0 6.65001 2 60 70 18 0.5 0.036766 C10orf32 119032 __UNKNOWN__ __UNKNOWN__ 10 104623117 104623117 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:104623117G>A ENST00000339834.5 + 0 821 C10orf32-ASMT_ENST00000299353.6_Intron|C10orf32_ENST00000369883.3_Intron NM_001136200.1|NM_144591.3 NP_001129672.1|NP_653192.2 Q96B45 CJ032_HUMAN chromosome 10 open reading frame 32 NA NA large_intestine(1) 1 all_hematologic(284;0.176)|Colorectal(252;0.207) Epithelial(162;4.32e-09)|all cancers(201;1.14e-07)|BRCA - Breast invasive adenocarcinoma(275;0.217) aaaaaaaaaagaaaaGTTCTG 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098071 CCDS7542.2 10q24.33 2003-11-21 ENSG00000166275 ENSG00000166275 119032 23516 protein-coding gene gene with protein product NA NA Standard NM_144591 NM_144591 NA Approved FLJ40752 uc001kwi.2 Q96B45 OTTHUMG00000018975 ENST00000339834.5:c.*436G>A chr10.hg19:g.104623117G>A NA B2R488|B3KUW4|C9K0X3 hg19 CCDS7542.2 0.02 0.790709 AAAxAAA COVERED NOVEL C10orf32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050110.2 12 5.852232 KEEP 0 7 111 60 1823 GG 1 0.999895 0 + 10 60 154 0 1 7.354514 80 70 2422 199 ENST00000339834.5 0.111111 0.999895 WDR96 0 __UNKNOWN__ __UNKNOWN__ 10 105992092 105992092 __UNKNOWN__ 5'UTR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:105992092G>T ENST00000278064.2 - 0 28 WDR96_ENST00000428666.1_5'UTR|WDR96_ENST00000369719.1_5'UTR|WDR96_ENST00000357060.3_5'UTR NA NA NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GGGGCTGCGGGCCGCGACGCC 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA NA ENST00000278064.2:c.-298C>A chr10.hg19:g.105992092G>T NA hg19 0.02 -0.296144 CGGxCCG COVERED NOVEL WDR96-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050200.1 0 2.358054 KEEP 0 0 0 8 194 GG 0.99257 0.7943 0 - 8 60 134 0 0 9.186651 26 60 656 44 ENST00000278064.2 0.235294 0.800245 PDCD4 27250 __UNKNOWN__ __UNKNOWN__ 10 112657906 112657906 __UNKNOWN__ 3'UTR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:112657906G>T ENST00000280154.7 + 0 1744 PDCD4_ENST00000393104.2_3'UTR|MIR4680_ENST00000580906.1_RNA NM_001199492.1|NM_014456.4 NP_001186421.1|NP_055271.2 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) NA NA apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) RNA binding (GO:0003723) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGTAAGAGTTGTTAGCACAAG 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(115;1498 1603 9363 40056 40885) NA NA 0 41 37 39 NA NA NA 10 NA NA 112657906 692 1590 2282 SO:0001624 3_prime_UTR_variant U83908 CCDS7567.1, CCDS44478.1 10q24 2008-08-01 ENSG00000150593 ENSG00000150593 27250 8763 protein-coding gene gene with protein product nuclear antigen H731 608610 NA 9759869 Standard NM_014456 NM_014456 NA Approved H731 uc001kzh.3 Q53EL6 OTTHUMG00000019048 ENST00000280154.7:c.*60G>T chr10.hg19:g.112657906G>T NA B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834 hg19 CCDS7567.1 0.02 2.792206 GTTxTTA COVERED NOVEL PDCD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050361.1 2 8.739676 KEEP 0 3 57 50 1553 GG 1 1 0 + 13 60 251 0 0 12.424725 139 70 4415 332 ENST00000280154.7 0.085526 1 TCF7L2 6934 __UNKNOWN__ __UNKNOWN__ 10 114910679 114910679 __UNKNOWN__ Intron SNP C C T rs200408974 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:114910679C>T ENST00000369397.4 + 8 1111 TCF7L2_ENST00000542695.1_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000355995.4_Intron|TCF7L2_ENST00000534894.1_Intron|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000352065.5_Intron NM_001198525.1|NM_001198527.1|NM_001198528.1|NM_030756.4 NP_001185454.1|NP_001185456.1|NP_001185457.1|NP_110383.2 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) NA NA blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) TTTTTTTTTTCTTTTTAATTG 0.368 NA NA T VTI1A colorectal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 10 10q25.3 6934 transcription factor 7-like 2 E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X62871 CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1 10q25.3 2006-11-24 ENSG00000148737 ENSG00000148737 6934 11641 protein-coding gene gene with protein product 602228 TCF4 NA 1741298 Standard NM_030756 NM_001146283 NA Approved TCF-4 uc001lae.4 Q9NQB0 OTTHUMG00000019070 ENST00000369397.4:c.807-78C>T chr10.hg19:g.114910679C>T NA B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2 hg19 CCDS7576.1 0.02 6.21037 TTTxTTT COVERED NOVEL TCF7L2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050413.1 0 8.430574 KEEP 0 1 10 32 967 CC 0.999998 0.999998 0 + 18 60 309 2 0 13.98996 205 60 5670 319 ENST00000369397.4 0.080717 1 VAX1 11023 __UNKNOWN__ __UNKNOWN__ 10 118893952 118893952 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:118893952G>A ENST00000369206.5 - 3 571 c.572C>T c.(571-573)cCc>cTc p.P191L VAX1_ENST00000277905.2_Intron NM_001112704.1 NP_001106175.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 191 NA axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) AGGCAGGCCGGGCGGCGACAA 0.766 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 7 8 7 NA NA NA 10 NA NA 118893952 665 1563 2228 SO:0001583 missense AK127095 CCDS7597.1, CCDS44483.1 10q26.11 2011-06-20 ENSG00000148704 ENSG00000148704 11023 Homeoboxes / ANTP class : NKL subclass 12660 protein-coding gene gene with protein product 604294 NA 9636075, 10485894 Standard XM_301242 NM_199131 NA Approved uc009xyx.3 Q5SQQ9 OTTHUMG00000019117 ENST00000369206.5:c.572C>T chr10.hg19:g.118893952G>A ENSP00000358207:p.Pro191Leu NA B1AVW5|Q6ZSX0 hg19 CCDS44483.1 0.02 3.943034 CCGxGCG COVERED . . . . . . . . . . G 15.98 2.991563 0.54041 . . ENSG00000148704 ENST00000369206 D 0.93488 -3.23 4.45 3.55 0.40652 . 0.000000 0.85682 D 0.000000 D 0.90861 0.7129 L 0.57536 1.79 0.58432 D 0.999997 B 0.09022 0.002 B 0.08055 0.003 D 0.87847 0.2655 10 0.52906 T 0.07 -21.9194 12.7384 0.57238 0.0807:0.0:0.9193:0.0 . 191 Q5SQQ9 VAX1_HUMAN L 191 ENSP00000358207:P191L ENSP00000358207:P191L P - 2 0 VAX1 118883942 1.000000 0.71417 0.997000 0.53966 0.490000 0.33462 5.735000 0.68587 1.091000 0.41335 -0.347000 0.07816 CCC NOVEL VAX1-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050559.3 1 4.213637 KEEP 0 0 0 14 483 GG 0.995343 0.995341 0 - 47 60 1526 0 0 140.576602 71 60 2362 160 ENST00000369206.5 0.398305 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 127577457 127577457 __UNKNOWN__ IGR SNP C C T rs10794032 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:127577457C>T NA NA DHX32 (7573 upstream) : RNU2-42P (1677 downstream) NA NA NA agtgaaaccccgtctctacta 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.127577457C>T NA hg19 0.02 -0.333258 CCCxGTC COVERED NOVEL 0 9 6.31946 KEEP 1 0 0 21 679 CC 0.999863 0.851867 0 5 60 181 0 0 14.321384 29 60 945 69 0.147059 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 127585027 127585027 __UNKNOWN__ IGR SNP C C A rs5014355 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:127585027C>A NA NA RNU2-42P (5780 upstream) : FANK1 (80 downstream) NA NA NA TCAGTGTCCCCGGCGACGCGC 0.721 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.127585027C>A NA hg19 0.02 27.429811 CCCxGGC COVERED NOVEL 0 3 19.258648 KEEP 0 0 0 64 2072 CC 1 1 0 15 60 522 0 0 40.023065 100 60 3425 826 0.130435 1 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127585316 127585316 __UNKNOWN__ Intron SNP G G T rs113284764 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:127585316G>T ENST00000368695.1 + 1 117 FANK1_ENST00000449042.2_Intron|FANK1_ENST00000368693.1_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GCGCGACTCCGCAGGTTTCAA 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 6 11 10 NA NA NA 10 NA NA 127585316 666 1573 2239 SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.-6+92G>T chr10.hg19:g.127585316G>T NA Q6UXY9|Q6X7T6 hg19 0.02 6.442629 TCCxCAG COVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 0 4.815194 KEEP 0 0 0 16 537 AG 0.999859 0.999859 0 + 31 60 1086 0 0 100.19743 49 60 1700 228 ENST00000368695.1 0.3875 1 LRRC27 80313 __UNKNOWN__ __UNKNOWN__ 10 134178329 134178329 __UNKNOWN__ Intron SNP T T C rs12260371 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:134178329T>C ENST00000368614.3 + 10 1394 LRRC27_ENST00000432555.2_Intron|LRRC27_ENST00000368610.3_Intron|LRRC27_ENST00000368613.4_Intron|LRRC27_ENST00000368612.1_Intron|LRRC27_ENST00000392638.2_Intron|LRRC27_ENST00000475747.1_Intron NM_030626.2 NP_085129.1 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 NA NA breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) cacccttacatctacctccac 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051461 CCDS31316.1, CCDS44496.1 10q26.3 2013-09-20 ENSG00000148814 ENSG00000148814 80313 29346 protein-coding gene gene with protein product NA NA 11214970 Standard XM_290462 NM_030626 NA Approved KIAA1674 uc010quw.1 Q9C0I9 OTTHUMG00000019284 ENST00000368614.3:c.1290-599T>C chr10.hg19:g.134178329T>C NA A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21 hg19 CCDS31316.1 0.02 -0.192992 ACAxCTA COVERED NOVEL LRRC27-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000051058.2 18 4.813964 KEEP 5 0 0 16 493 TT 0.995343 0.455625 0 + 3 60 102 0 0 9.332843 5 52 169 55 ENST00000368614.3 0.375 0.457757 FRG2B 441581 __UNKNOWN__ __UNKNOWN__ 10 135438806 135438806 __UNKNOWN__ Silent SNP G G T rs202242175 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:135438806G>T ENST00000425520.1 - 4 686 c.634C>A c.(634-636)Cgg>Agg p.R212R FRG2B_ENST00000443774.1_Silent_p.R213R NM_001080998.1 NP_001074467.1 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 212 NA nucleus (GO:0005634) endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CCCCGGAGCCGAGTGAGCAGT 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 8 10 10 NA NA NA 10 NA NA 135438806 1752 3875 5627 SO:0001819 synonymous_variant AY744466 CCDS44502.1 10q26.3 2012-10-02 ENSG00000225899 ENSG00000225899 441581 33518 protein-coding gene gene with protein product NA NA 15520407 Standard NM_001080998 NM_001080998 NA Approved uc010qvg.2 Q96QU4 OTTHUMG00000019328 ENST00000425520.1:c.634C>A chr10.hg19:g.135438806G>T NA Q5VSQ1 hg19 CCDS44502.1 0.02 -0.350791 GCCxAGT COVERED NOVEL FRG2B-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000467780.1 0 3.304866 KEEP 42 0 0 11 299 GG 0.992708 0.871307 0 - 4 25 151 0 0 12.394287 19 40 562 96 ENST00000425520.1 0.173913 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 135500501 135500501 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr10:135500501C>A NA NA AL845259.1 (27322 upstream) : None (None downstream) NA NA NA cctgggtgatcagtgcagaga 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr10.hg19:g.135500501C>A NA hg19 0.02 -0.394711 GATxAGT UNCOVERED NOVEL 0 15 2.407919 KEEP 50 0 0 8 286 CC 0 0 0 3 25 102 0 0 9.14452 6 40 203 143 0.333333 0.954491 IFITM3 10410 __UNKNOWN__ __UNKNOWN__ 11 321068 321068 __UNKNOWN__ Intron SNP G G A rs61876247 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:321068G>A ENST00000602735.1 - 2 287 RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Intron|RP11-326C3.11_ENST00000602429.1_RNA Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CATCTTGTTAGTGGTGTGGGG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X57352 CCDS41585.1 11p15.5 2011-05-24 2011-05-24 ENSG00000142089 ENSG00000142089 10410 5414 protein-coding gene gene with protein product 605579 interferon induced transmembrane protein 3 (1-8U) NA 1906403, 16326387 Standard NM_021034 NM_021034 NA Approved 1-8U uc001lpa.2 Q01628 ENST00000602735.1:c.22-296C>T chr11.hg19:g.321068G>A NA Q53Y76|Q96HK8|Q96J15 hg19 0.02 1.903771 TTAxTGG COVERED NOVEL IFITM3-004 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000468087.1 3 5.417619 KEEP 0 0 0 18 624 GG 0.999859 0.998852 0 - 5 60 179 0 0 12.776015 56 60 1979 103 ENST00000602735.1 0.081967 0.998993 IFITM3 10410 __UNKNOWN__ __UNKNOWN__ 11 321090 321090 __UNKNOWN__ Intron SNP T T G rs61876248 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:321090T>G ENST00000602735.1 - 2 287 RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Intron|RP11-326C3.11_ENST00000602429.1_RNA Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CCTGGAGACTTCCCCTGTGTT 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X57352 CCDS41585.1 11p15.5 2011-05-24 2011-05-24 ENSG00000142089 ENSG00000142089 10410 5414 protein-coding gene gene with protein product 605579 interferon induced transmembrane protein 3 (1-8U) NA 1906403, 16326387 Standard NM_021034 NM_021034 NA Approved 1-8U uc001lpa.2 Q01628 ENST00000602735.1:c.22-318A>C chr11.hg19:g.321090T>G NA Q53Y76|Q96HK8|Q96J15 hg19 0.02 1.99715 ACTxCCC COVERED NOVEL IFITM3-004 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000468087.1 3 3.911243 KEEP 0 0 0 13 400 TT 0.994391 0.974032 0 - 8 60 285 0 0 22.413232 47 60 1529 74 ENST00000602735.1 0.145455 0.979526 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 784775 784775 __UNKNOWN__ IGR SNP G G T rs7107271 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:784775G>T NA NA AP006621.5 (478 upstream) : CEND1 (2328 downstream) NA NA NA actttgggaggctgagacagg 0.567 NA NA G||| 2415 0.482228 0.3601 0.6455 5008 , , NA 18182 0.5724 NA 0.5268 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr11.hg19:g.784775G>T NA hg19 0.02 -0.026295 GAGxCTG UNCOVERED NOVEL 0 8 3.009802 KEEP 4 0 0 10 348 GG 0 0 0 3 60 88 0 0 10.227489 0 0 0 13 1 0 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016825 1016825 __UNKNOWN__ Silent SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1016825G>A ENST00000421673.2 - 31 6026 c.5976C>T c.(5974-5976)acC>acT p.T1992T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1992 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATAGGTAGTGGTGGTCTGGA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1487 1481 1483 NA NA NA 11 NA NA 1016825 2203 4298 6501 SO:0001819 synonymous_variant U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5976C>T chr11.hg19:g.1016825G>A NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 34.903333 AGTxGTG COVERED NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 54 5.620732 KEEP 21 20 568 219 7383 GG 1 1 0 - 23 60 704 0 1 41.832544 435 60 15262 1322 ENST00000421673.2 0.050218 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092827 1092827 __UNKNOWN__ Missense_Mutation SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1092827C>A ENST00000441003.2 + 30 4673 c.4646C>A c.(4645-4647)aCc>aAc p.T1549N MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1550N NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1549N(1)|p.T1550N(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GTGACCCCAACCCCAACACCC 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) NS(2) 61 92 81 NA NA NA 11 NA NA 1092827 1824 3332 5156 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4646C>A chr11.hg19:g.1092827C>A ENSP00000415183:p.Thr1549Asn NA Q14878 hg19 0.02 9.188326 CAAxCCC COVERED . . . . . . . . . . C 3.215 -0.160741 0.06502 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.15487 2.47;2.42 1.49 -2.04 0.07343 . . . . . T 0.06188 0.0160 . . . 0.09310 N 1 P 0.41978 0.767 B 0.26310 0.068 T 0.34950 -0.9808 8 0.23891 T 0.37 . 4.9756 0.14138 0.0:0.6372:0.2131:0.1496 . 1549 E7EUV1 . N 1549;1550 ENSP00000415183:T1549N;ENSP00000351956:T1550N ENSP00000351956:T1550N T + 2 0 MUC2 1082827 0.000000 0.05858 0.000000 0.03702 0.255000 0.26057 0.798000 0.27014 -0.678000 0.05224 0.109000 0.15622 ACC NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 28 12.976078 KEEP 60 4 122 86 2848 CC 1 1 0 + 11 40 375 0 0 23.727886 212 60 7246 564 ENST00000441003.2 0.049327 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092884 1092884 __UNKNOWN__ Missense_Mutation SNP C C T rs201415503 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1092884C>T ENST00000441003.2 + 30 4730 c.4703C>T c.(4702-4704)aCg>aTg p.T1568M MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1569M NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1569M(2)|p.T1568M(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACCACCACCACGGTGacccca 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) large_intestine(2)|skin(2) 129 172 157 NA NA NA 11 NA NA 1092884 1964 3669 5633 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4703C>T chr11.hg19:g.1092884C>T ENSP00000415183:p.Thr1568Met NA Q14878 hg19 0.02 18.69476 CCAxGGT COVERED . . . . . . . . . . C 2.409 -0.335727 0.05278 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.14893 2.5;2.47 1.63 0.367 0.16140 . 25.055600 0.00797 U 0.001394 T 0.21841 0.0526 . . . 0.09310 N 1 D 0.76494 0.999 P 0.48425 0.577 T 0.35301 -0.9794 9 0.45353 T 0.12 . 8.9064 0.35526 0.0:0.7681:0.2319:0.0 . 1568 E7EUV1 . M 1568;1569 ENSP00000415183:T1568M;ENSP00000351956:T1569M ENSP00000351956:T1569M T + 2 0 MUC2 1082884 0.000000 0.05858 0.002000 0.10522 0.015000 0.08874 0.878000 0.28126 0.945000 0.37605 0.121000 0.15741 ACG NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 59 16.445107 KEEP 84 12 314 166 5495 CC 1 1 0 + 25 60 703 0 2 41.941776 382 60 12685 1207 ENST00000441003.2 0.061425 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092891 1092891 __UNKNOWN__ Silent SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1092891C>A ENST00000441003.2 + 30 4737 c.4710C>A c.(4708-4710)acC>acA p.T1570T MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1571T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1571T(1)|p.T1570T(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCACGGTGaccccaaccccaa 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - coding silent(2) ovary(2) 116 157 142 NA NA NA 11 NA NA 1092891 1961 3652 5613 SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4710C>A chr11.hg19:g.1092891C>A NA Q14878 hg19 0.02 17.368439 GACxCCA COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 52 11.992864 KEEP 92 13 350 164 5466 CC 1 1 0 + 12 47 417 0 0 23.926913 397 60 13526 1184 ENST00000441003.2 0.02934 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092948 1092948 __UNKNOWN__ Silent SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1092948C>G ENST00000441003.2 + 30 4794 c.4767C>G c.(4765-4767)acC>acG p.T1589T MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1590T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1590T(2)|p.T1589T(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) tcaccaccaccactacggtga 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - coding silent(4) endometrium(2)|kidney(2) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4767C>G chr11.hg19:g.1092948C>G NA Q14878 hg19 0.02 11.275422 CACxACT COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 27 16.154842 KEEP 109 6 204 125 4105 CC 1 1 0 + 13 42 381 0 0 21.013238 295 60 10113 867 ENST00000441003.2 0.042208 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093134 1093134 __UNKNOWN__ Silent SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1093134C>A ENST00000441003.2 + 30 4980 c.4953C>A c.(4951-4953)acC>acA p.T1651T MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1618T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) agaccccaaccacgacaccca 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 102 166 144 NA NA NA 11 NA NA 1093134 1800 3370 5170 SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4953C>A chr11.hg19:g.1093134C>A NA Q14878 hg19 0.02 5.66471 AACxACG COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 8 5.52257 KEEP 50 2 55 38 1243 CC 0.999997 0.999997 0 + 7 45 223 0 0 13.845762 123 60 3926 336 ENST00000441003.2 0.053846 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093204 1093204 __UNKNOWN__ Missense_Mutation SNP C C A rs56299570 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1093204C>A ENST00000441003.2 + 30 5050 c.5023C>A c.(5023-5025)Cca>Aca p.P1675T MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.P1642T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.P1675T(1)|p.P1642T(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) gtccccaaccccaacagccat 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) kidney(2) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5023C>A chr11.hg19:g.1093204C>A ENSP00000415183:p.Pro1675Thr NA Q14878 hg19 0.02 3.794864 ACCxCAA COVERED . . . . . . . . . . C 0.954 -0.705464 0.03255 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.09073 3.02;3.53 1.75 -3.49 0.04724 . 0.575351 0.10542 U 0.662513 T 0.04092 0.0114 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.45381 -0.9265 9 0.16896 T 0.51 . 6.9769 0.24681 0.6778:0.3222:0.0:0.0 rs56299570 1675 E7EUV1 . T 1675;1642 ENSP00000415183:P1675T;ENSP00000351956:P1642T ENSP00000351956:P1642T P + 1 0 MUC2 1083204 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -3.268000 0.00533 -1.450000 0.01936 0.184000 0.17185 CCA NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 2 3.523445 KEEP 6 1 17 18 558 CC 0.999366 0.999335 0 + 9 41 291 0 1 20.847822 78 60 2516 166 ENST00000441003.2 0.103448 0.999968 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093295 1093295 __UNKNOWN__ Missense_Mutation SNP C C T rs200837746|rs200145328 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1093295C>T ENST00000441003.2 + 30 5141 c.5114C>T c.(5113-5115)aCt>aTt p.T1705I MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1672I NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1705I(1)|p.T1672I(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) accaccaccactacggtgacc 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) large_intestine(2) 113 161 144 NA NA NA 11 NA NA 1093295 1882 3466 5348 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5114C>T chr11.hg19:g.1093295C>T ENSP00000415183:p.Thr1705Ile NA Q14878 hg19 0.02 11.376237 CCAxTAC COVERED . . . . . . . . . . C 0.775 -0.764347 0.02996 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.11277 3.02;2.79 1.6 -0.698 0.11280 . 0.547305 0.11728 U 0.535177 T 0.05868 0.0153 . . . 0.09310 N 1 B 0.06786 0.001 B 0.01281 0.0 T 0.38457 -0.9660 9 0.34782 T 0.22 . 3.0673 0.06219 0.0:0.5189:0.2842:0.1969 . 1705 E7EUV1 . I 1705;1672 ENSP00000415183:T1705I;ENSP00000351956:T1672I ENSP00000351956:T1672I T + 2 0 MUC2 1083295 0.002000 0.14202 0.001000 0.08648 0.001000 0.01503 0.065000 0.14466 -0.392000 0.07751 -1.238000 0.01547 ACT NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 10 20.829749 KEEP 112 2 56 89 2964 CC 1 1 0 + 16 60 489 2 0 31.019217 237 60 8285 715 ENST00000441003.2 0.063241 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093368 1093368 __UNKNOWN__ Silent SNP G G A rs111440994 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1093368G>A ENST00000441003.2 + 30 5214 c.5187G>A c.(5185-5187)acG>acA p.T1729T MUC2_ENST00000333592.6_Silent_p.T17T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1696T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1696T(3)|p.T1729T(3) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ccaccactacggtgaccccaa 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6 Substitution - coding silent(6) prostate(6) 175 224 207 NA NA NA 11 NA NA 1093368 1971 3826 5797 SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5187G>A chr11.hg19:g.1093368G>A NA Q14878 hg19 0.02 15.725783 TACxGTG COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 33 7.440292 KEEP 80 10 290 127 4019 GG 1 1 0 + 32 60 1040 0 1 72.545488 326 60 10549 919 ENST00000441003.2 0.089385 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1212894 1212894 __UNKNOWN__ 3'UTR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:1212894T>C ENST00000358378.6 + 0 135 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) caacctctggtcctggaacta 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*132T>C chr11.hg19:g.1212894T>C NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 29.032902 TGGxCCT COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 46 39.383179 KEEP 54 18 577 333 10107 TT 1 1 0 + 18 60 595 0 0 38.963746 280 60 8860 1379 ENST00000358378.6 0.060403 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 2194178 2194178 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:2194178C>A NA NA TH (1071 upstream) : MIR4686 (114 downstream) NA NA NA CAGAGCCTGCCTTGACAATGC 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr11.hg19:g.2194178C>A NA hg19 0.02 1.760179 TGCxTTG COVERED NOVEL 0 0 8.426863 KEEP 0 0 0 28 945 CC 0.999997 0.999484 0 54 60 1840 0 0 186.433588 29 60 1006 134 0.650602 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 3457796 3457796 __UNKNOWN__ IGR SNP T T G rs576601567 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:3457796T>G NA NA TSSC2 (27588 upstream) : RP13-726E6.1 (32752 downstream) NA NA NA tttttgtagatatggggtctc 0.493 NA NA -||| 4 0.000798722 8e-04 0.0029 5008 , , NA 12694 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr11.hg19:g.3457796T>G NA hg19 0.02 -0.035092 AGAxATG UNCOVERED NOVEL 0 7 3.307427 KEEP 0 0 0 11 312 TT 0.993072 0.019843 0 2 24 73 0 0 7.050086 2 60 70 16 0.5 0.019982 HBG1 3047 __UNKNOWN__ __UNKNOWN__ 11 5269572 5269572 __UNKNOWN__ 3'UTR SNP A A C rs201642811 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:5269572A>C ENST00000330597.3 - 0 548 NM_000559.2 NP_000550.2 P69891 HBG1_HUMAN hemoglobin, gamma A NA NA blood coagulation (GO:0007596) cytosol (GO:0005829)|hemoglobin complex (GO:0005833) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344) large_intestine(1)|lung(3)|skin(1) 5 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAAGCTCTGAATCATGGGCA 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(117;2080 2193 33416 49679) NA NA 0 47 51 50 NA NA NA 11 NA NA 5269572 2201 4298 6499 SO:0001624 3_prime_UTR_variant M91036 CCDS7754.1 11p15.5 2014-05-19 ENSG00000213934 ENSG00000213934 3047 4831 protein-coding gene gene with protein product 142200 NA 2649166 Standard NM_000559 NM_000559 NA Approved HBG-T2 uc001mah.1 P69891 OTTHUMG00000066681 ENST00000330597.3:c.*17T>G chr11.hg19:g.5269572A>C NA P02096|P62027|Q549G1|Q8TDA1|Q96FH7 hg19 CCDS7754.1 0.02 10.439557 CTGxATC COVERED . . . . . . . . . . A 0.871 -0.732124 0.03135 . . ENSG00000213934 ENST00000380256 . . . 1.04 -2.08 0.07254 . . . . . T 0.11537 0.0281 . . . 0.09310 N 0.999999 . . . . . . T 0.23440 -1.0188 5 0.05959 T 0.93 . 3.6785 0.08301 0.1996:0.4964:0.0:0.304 rs11546324;rs11548394 . . . M 153 . ENSP00000369606:I153M I - 3 3 HBG1 5226148 0.005000 0.15991 0.000000 0.03702 0.002000 0.02628 -0.827000 0.04424 -1.623000 0.01558 -1.286000 0.01371 ATT NOVEL HBG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142982.1 4 6.253278 KEEP 1 1 35 33 1035 AA 0.999998 0.999998 0 - 15 21 531 0 0 44.67908 53 60 1837 347 ENST00000330597.3 0.220588 1 RRAS2 22800 __UNKNOWN__ __UNKNOWN__ 11 14363401 14363401 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:14363401T>C ENST00000256196.4 - 1 422 RRAS2_ENST00000529237.1_Intron|RRAS2_ENST00000526063.1_Intron|RRAS2_ENST00000545643.1_Intron|RRAS2_ENST00000537760.1_Intron|RRAS2_ENST00000534746.1_Intron|RRAS2_ENST00000532814.1_Intron P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 NA NA osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) ttgaagactcttgcatgcctc 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M31468 CCDS7814.1, CCDS44544.1, CCDS53603.1 11p15.2 2014-05-09 ENSG00000133818 ENSG00000133818 22800 17271 protein-coding gene gene with protein product 600098 NA 2108320, 8052619 Standard NM_012250 NM_012250 NA Approved TC21 uc001mlf.4 P62070 OTTHUMG00000165756 ENST00000256196.4:c.108+16907A>G chr11.hg19:g.14363401T>C NA B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082 hg19 CCDS7814.1 0.02 22.639392 CTCxTGC COVERED NOVEL RRAS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386035.1 7 15.733935 KEEP 9 6 193 120 3685 TT 1 1 0 - 57 33 1955 0 0 139.689624 572 60 20425 962 ENST00000256196.4 0.09062 1 NCR3LG1 374383 __UNKNOWN__ __UNKNOWN__ 11 17394694 17394694 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:17394694G>A ENST00000338965.4 + 0 2244 NM_001202439.1 NP_001189368.1 Q68D85 NR3L1_HUMAN natural killer cell cytotoxicity receptor 3 ligand 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral capsid (GO:0019028) structural molecule activity (GO:0005198) NA tcagaaggaagctagagaaac 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS55748.1 11p15.1 2014-01-30 ENSG00000188211 ENSG00000188211 374383 Immunoglobulin superfamily / C1-set domain containing, Endogenous ligands 42400 protein-coding gene gene with protein product B7 homolog 6 613714 NA 19528259 Standard NM_001202439 XR_242803 NA Approved DKFZp686O24166, B7-H6 uc001mmz.4 Q68D85 OTTHUMG00000165913 ENST00000338965.4:c.*635G>A chr11.hg19:g.17394694G>A NA Q7Z3M6 hg19 CCDS55748.1 0.02 2.196511 GAAxCTA COVERED NOVEL NCR3LG1-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387035.2 1 4.514807 KEEP 0 0 0 15 534 GG 0.99649 0.976088 0 + 18 60 633 0 0 56.617144 38 60 1370 86 ENST00000338965.4 0.321429 0.979526 RP11-113D6.10 0 __UNKNOWN__ __UNKNOWN__ 11 18231613 18231613 __UNKNOWN__ Silent SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:18231613A>G ENST00000527059.1 + 1 859 c.399A>G c.(397-399)gcA>gcG p.A133A RP11-113D6.10_ENST00000340135.3_Silent_p.A133A|RP11-113D6.10_ENST00000534640.1_Silent_p.A133A NA NA NA GCGTGGCAGCAGTGCTTGCAG 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA NA ENST00000527059.1:c.399A>G chr11.hg19:g.18231613A>G NA hg19 0.02 8.798572 AGCxGTG COVERED NOVEL RP11-113D6.10-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000389801.2 3 5.414762 KEEP 0 0 0 18 532 AA 0.999859 0.999859 0 + 73 60 2314 0 0 203.147709 161 60 5605 289 ENST00000527059.1 0.311966 1 METTL15 196074 __UNKNOWN__ __UNKNOWN__ 11 28353434 28353434 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:28353434G>A ENST00000407364.3 + 0 2622 METTL15_ENST00000406787.3_3'UTR|METTL15_ENST00000303459.6_3'UTR|METTL15_ENST00000342303.5_3'UTR A6NJ78 MET15_HUMAN methyltransferase like 15 NA NA methyltransferase activity (GO:0008168) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 14 GGCACATGGAGTATGGAAGGG 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832668 CCDS31450.1, CCDS44559.1, CCDS73269.1 11p14.1 2011-03-02 2011-03-02 2011-03-02 ENSG00000169519 ENSG00000169519 196074 26606 protein-coding gene gene with protein product NA methyltransferase 5 domain containing 1 METT5D1 NA 12477932 Standard NM_152636 NM_152636 NA Approved FLJ33979 uc001msh.2 A6NJ78 OTTHUMG00000150448 ENST00000407364.3:c.*1046G>A chr11.hg19:g.28353434G>A NA A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7 hg19 CCDS44559.1 0.02 7.487497 GGAxTAT COVERED NOVEL METTL15-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318135.2 2 4.583494 KEEP 37 2 62 37 1280 GG 0.999997 0.999997 0 + 8 27 280 0 0 16.494122 239 60 8786 387 ENST00000407364.3 0.032389 1 CAT 847 __UNKNOWN__ __UNKNOWN__ 11 34460710 34460710 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:34460710G>T ENST00000241052.4 + 1 155 NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase NA NA aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) CTTCCCCCGGGGCGGCGCTTG 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY028632 CCDS7891.1 11p13 2012-10-02 ENSG00000121691 ENSG00000121691 847 1.11.1.6 1516 protein-coding gene gene with protein product 115500 NA Standard NM_001752 NM_001752 NA Approved uc001mvm.3 P04040 OTTHUMG00000044353 ENST00000241052.4:c.66+84G>T chr11.hg19:g.34460710G>T NA A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85 hg19 CCDS7891.1 0.02 1.827247 CGGxGCG COVERED NOVEL CAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103197.2 1 9.63051 KEEP 0 0 0 32 1073 GG 0.999997 0.992923 0 + 26 60 845 0 0 78.590024 36 60 1226 98 ENST00000241052.4 0.419355 0.992926 DGKZ 8525 __UNKNOWN__ __UNKNOWN__ 11 46369302 46369302 __UNKNOWN__ Silent SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:46369302C>G ENST00000456247.2 + 1 181 c.93C>G c.(91-93)ccC>ccG p.P31P DGKZ_ENST00000543978.1_Silent_p.P31P|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Silent_p.P31P|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Silent_p.P31P|DGKZ_ENST00000318201.8_Silent_p.P31P NM_001199267.1|NM_003646.3 NP_001186196.1|NP_003637.2 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 0 NA blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205) cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) ACGCCGGTCCCGAGCCGGACA 0.771 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 2 2 NA NA NA 11 NA NA 46369302 743 1854 2597 SO:0001819 synonymous_variant U51477 CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2 11p11.2 2010-11-24 2010-11-24 ENSG00000149091 ENSG00000149091 8525 2.7.1.107 2857 protein-coding gene gene with protein product 601441 diacylglycerol kinase, zeta 104kDa NA 8626588 Standard NM_001105540 NM_003646 NA Approved DAGK5, hDGKzeta, DGK-ZETA, DAGK6 uc001ncn.1 Q13574 OTTHUMG00000166437 ENST00000456247.2:c.93C>G chr11.hg19:g.46369302C>G NA B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9 hg19 CCDS55759.1 0.02 -0.18416 TCCxGAG COVERED NOVEL DGKZ-022 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000398328.1 0 2.708651 KEEP 1 0 0 9 301 CC 0.99257 0.420331 0 + 5 57 156 0 0 12.981056 16 60 533 45 ENST00000456247.2 0.238095 0.423478 OR4C6 219432 __UNKNOWN__ __UNKNOWN__ 11 55433639 55433639 __UNKNOWN__ 3'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:55433639C>T ENST00000314259.3 + 0 1026 NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGTGTAAGAGCTAAAACTGTC 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CR593785 CCDS31506.1 11q11 2012-08-09 ENSG00000181903 ENSG00000181903 219432 GPCR / Class A : Olfactory receptors 14743 protein-coding gene gene with protein product NA NA Standard NM_001004704 NM_001004704 NA Approved uc010rik.2 Q8NH72 OTTHUMG00000166800 ENST00000314259.3:c.*67C>T chr11.hg19:g.55433639C>T NA B2RP11|Q6IFD2 hg19 CCDS31506.1 0.02 21.170812 GAGxTAA COVERED NOVEL OR4C6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391504.1 14 15.349688 KEEP 0 0 0 51 1783 CC 1 1 0 + 143 60 4959 0 0 429.14475 393 60 14173 703 ENST00000314259.3 0.266791 1 SLC43A1 8501 __UNKNOWN__ __UNKNOWN__ 11 57281624 57281624 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:57281624A>T ENST00000278426.3 - 2 343 SLC43A1_ENST00000528450.1_Intron NM_003627.5 NP_003618.1 solute carrier family 43 (amino acid system L transporter), member 1 NA NA breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CGCTGGGTGAAGGGCCCCCCA 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 6 7 7 NA NA NA 11 NA NA 57281624 2154 4219 6373 SO:0001627 intron_variant AF045584 CCDS7958.1 11q12.1 2013-07-17 2013-07-17 2003-09-12 ENSG00000149150 ENSG00000149150 8501 Solute carriers 9225 protein-coding gene gene with protein product 603733 prostate cancer overexpressed gene 1 POV1 NA 9255310, 9722952 Standard NM_003627 NM_003627 NA Approved R00504, PB39 uc001nkk.3 O75387 OTTHUMG00000167030 ENST00000278426.3:c.13-27T>A chr11.hg19:g.57281624A>T NA hg19 CCDS7958.1 0.02 1.777786 TGAxGGG COVERED NOVEL SLC43A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392541.1 0 8.423728 KEEP 0 0 0 28 839 AA 0.999997 0.999314 0 - 19 60 609 0 0 50.922402 61 60 2076 134 ENST00000278426.3 0.2375 0.999317 DTX4 23220 __UNKNOWN__ __UNKNOWN__ 11 58956253 58956253 __UNKNOWN__ Silent SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:58956253C>G ENST00000227451.3 + 3 1085 c.981C>G c.(979-981)gtC>gtG p.V327V DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.V221V NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex 4, E3 ubiquitin ligase 327 NA innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479) cytosol (GO:0005829) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) CCAGTCCTGTCAACCCTGCCT 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 65 61 62 NA NA NA 11 NA NA 58956253 1862 4103 5965 SO:0001819 synonymous_variant AB023154 CCDS44612.1 11q12.2 2014-01-28 2014-01-28 ENSG00000110042 ENSG00000110042 23220 RING-type (C3HC4) zinc fingers 29151 protein-coding gene gene with protein product NA deltex 4 homolog (Drosophila), deltex homolog 4 (Drosophila) NA 10231032, 22388039 Standard XM_166213 NM_015177 NA Approved KIAA0937, RNF155 uc001nns.2 Q9Y2E6 OTTHUMG00000167336 ENST00000227451.3:c.981C>G chr11.hg19:g.58956253C>G NA Q0VF38 hg19 CCDS44612.1 0.02 10.698152 TGTxAAC COVERED NOVEL DTX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394228.1 0 9.029031 KEEP 0 0 0 30 1031 CC 0.999997 0.999997 0 + 11 60 396 0 0 24.947876 256 60 9181 350 ENST00000227451.3 0.041199 1 SART1 9092 __UNKNOWN__ __UNKNOWN__ 11 65746405 65746405 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:65746405T>G ENST00000312397.5 + 19 2476 NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells NA NA cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387) Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TCGAGGCTggtggggtagggt 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 49 53 52 NA NA NA 11 NA NA 65746405 2201 4296 6497 SO:0001627 intron_variant AB006198 CCDS31611.1 11q13.1 2009-01-06 2006-12-07 ENSG00000175467 ENSG00000175467 9092 10538 protein-coding gene gene with protein product small nuclear ribonucleoprotein 110kDa (U4/U6.U5) 605941 squamous cell carcinoma antigen recognised by T cells NA 9449708 Standard NM_005146 NA Approved Ara1, Snu66, SNRNP110 uc001ogl.3 O43290 OTTHUMG00000166771 ENST00000312397.5:c.2384+20T>G chr11.hg19:g.65746405T>G NA A6NDN1|Q53GB5 hg19 CCDS31611.1 0.02 3.489298 TGGxGGG COVERED NOVEL SART1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391409.1 2 10.973649 KEEP 0 4 41 52 1316 TT 1 1 0 + 34 60 373 0 0 10.033338 279 60 7454 499 ENST00000312397.5 0.108626 1 ALDH3B2 222 __UNKNOWN__ __UNKNOWN__ 11 67430460 67430460 __UNKNOWN__ 3'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:67430460C>T ENST00000349015.3 - 0 1822 ALDH3B2_ENST00000530069.1_3'UTR NM_000695.3 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 NA NA alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629) 3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 AGTGAGGACACCTGGCATGTT 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U37519 CCDS31622.1 11q13.2 2014-09-04 ENSG00000132746 ENSG00000132746 222 1.2.1.5 Aldehyde dehydrogenases 411 protein-coding gene gene with protein product aldehyde dehydrogenase 8, acetaldehyde dehydrogenase 8 601917 ALDH8 NA 8890755, 9161417 Standard NM_000695 NM_000695 NA Approved uc001oms.3 P48448 OTTHUMG00000167284 ENST00000349015.3:c.*226G>A chr11.hg19:g.67430460C>T NA Q53Y98|Q8NAL5|Q96IB2 hg19 CCDS31622.1 0.02 5.927444 ACAxCTG COVERED NOVEL ALDH3B2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394004.1 1 5.717471 KEEP 0 0 0 19 625 CC 0.99986 0.99986 0 - 36 60 1204 0 0 100.769664 122 60 4226 219 ENST00000349015.3 0.227848 1 C2CD3 26005 __UNKNOWN__ __UNKNOWN__ 11 73811739 73811739 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:73811739C>T ENST00000313663.7 - 15 2807 C2CD3_ENST00000334126.7_Intron NM_015531.4 NP_056346.3 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 NA NA brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AGAGGAACAACCAAAACAAAC 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 50 51 NA NA NA 11 NA NA 73811739 2200 4293 6493 SO:0001627 intron_variant BC035599 CCDS31636.1, CCDS66167.1 11q13.4 2014-02-12 2007-10-17 ENSG00000168014 ENSG00000168014 26005 24564 protein-coding gene gene with protein product 615944 NA Standard NM_015531 XM_005273897 NA Approved DKFZP586P0123 uc001ouu.2 Q4AC94 OTTHUMG00000168110 ENST00000313663.7:c.2581-18G>A chr11.hg19:g.73811739C>T NA C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2 hg19 CCDS31636.1 0.02 4.082665 CAAxCAA COVERED NOVEL C2CD3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000398210.1 0 3.611656 KEEP 0 0 0 12 418 CC 0.993634 0.993607 0 - 31 60 1037 0 0 91.304768 71 60 2398 131 ENST00000313663.7 0.303922 0.999973 SPCS2 9789 __UNKNOWN__ __UNKNOWN__ 11 74674736 74674736 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:74674736C>G ENST00000263672.6 + 2 153 SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000530257.1_Intron|SPCS2_ENST00000526361.1_Intron NM_014752.2 NP_055567.2 Q15005 SPCS2_HUMAN signal peptidase complex subunit 2 homolog (S. cerevisiae) NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787) peptidase activity (GO:0008233) breast(1) 1 atggcaggtactcaccactgc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D14658 CCDS44681.1 11q13.4 2008-02-05 ENSG00000118363 ENSG00000118363 9789 28962 protein-coding gene gene with protein product NA NA 7788527 Standard NM_014752 NM_014752 NA Approved KIAA0102 uc001ovu.2 Q15005 OTTHUMG00000165517 ENST00000263672.6:c.115-1343C>G chr11.hg19:g.74674736C>G NA Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9 hg19 CCDS44681.1 0.02 4.377413 GTAxTCA COVERED NOVEL SPCS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384587.1 6 11.43728 KEEP 0 0 0 38 1353 CC 1 1 0 + 52 60 1887 0 0 171.857697 96 60 3466 230 ENST00000263672.6 0.351351 1 TMEM135 65084 __UNKNOWN__ __UNKNOWN__ 11 86806968 86806968 __UNKNOWN__ Intron SNP A A G rs3100847 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:86806968A>G ENST00000305494.5 + 4 435 TMEM135_ENST00000340353.7_Intron|TMEM135_ENST00000355734.4_Intron|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_Intron NM_022918.3 NP_075069.3 Q86UB9 TM135_HUMAN transmembrane protein 135 NA NA peroxisome organization (GO:0007031) integral component of membrane (GO:0016021)|peroxisome (GO:0005777) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) cagtgagccgagatcgcgcca 0.547 NA NA A||| 3020 0.603035 0.7148 0.6282 5008 , , NA 12010 0.7183 NA 0.4423 False NA ,,, NA NA NA 2504 0.4806 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648678 CCDS8280.1, CCDS53692.1 11q14.2 2006-03-09 ENSG00000166575 ENSG00000166575 65084 26167 protein-coding gene gene with protein product NA NA 12477932 Standard NM_022918 NM_022918 NA Approved FLJ22104 uc001pch.3 Q86UB9 OTTHUMG00000167248 ENST00000305494.5:c.396+4531A>G chr11.hg19:g.86806968A>G NA Q6AW91|Q8ND01|Q9H6M3 hg19 CCDS8280.1 0.02 -0.236832 CCGxGAT COVERED NOVEL TMEM135-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393875.1 0 2.40727 KEEP 0 0 0 8 247 AA 0.99257 0.607857 0 + 10 60 342 0 0 31.242717 17 60 562 39 ENST00000305494.5 0.37037 0.612407 CASP1 834 __UNKNOWN__ __UNKNOWN__ 11 104905208 104905208 __UNKNOWN__ Intron SNP A A G rs2509650 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:104905208A>G ENST00000528974.1 - 2 41 CASP1_ENST00000525825.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000436863.3_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000527979.1_5'UTR|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000533400.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165) AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559) cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017) TTGTCTGTTTAGAGCACAAGG 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(41;1246 1743 4934) NA NA 0 232 224 227 NA NA NA 11 NA NA 104905208 2202 4299 6501 SO:0001627 intron_variant U13697 CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1 11q23 2012-02-29 2012-02-29 ENSG00000137752 ENSG00000137752 834 Caspases 1499 protein-coding gene gene with protein product caspase-1, interleukin 1, beta, convertase 147678 caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase), caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) IL1BC NA 1373520, 9250871 Standard NM_033292 NM_033292 NA Approved ICE uc001pim.5 P29466 OTTHUMG00000048072 ENST00000528974.1:c.24-93T>C chr11.hg19:g.104905208A>G NA B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3 hg19 0.02 31.510635 TTTxGAG COVERED NOVEL CASP1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388122.1 2 35.589229 KEEP 3 1 33 130 3907 AA 1 1 0 - 31 49 1085 0 0 66.991774 734 60 26045 1024 ENST00000528974.1 0.040523 1 ACAT1 38 __UNKNOWN__ __UNKNOWN__ 11 108014695 108014695 __UNKNOWN__ Intron SNP C C T rs376661693 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:108014695C>T ENST00000265838.4 + 10 1031 NM_000019.3 NP_000010.1 P24752 THIL_HUMAN acetyl-CoA acetyltransferase 1 NA NA adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872) endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) CCCCCCCCCCCCTTTTTTTAA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 46 54 52 NA NA NA 11 NA NA 108014695 2201 4298 6499 SO:0001627 intron_variant D90228 CCDS8339.1 11q22.3 2010-04-30 2010-04-30 ENSG00000075239 ENSG00000075239 38 2.3.1.9 93 protein-coding gene gene with protein product acetoacetyl Coenzyme A thiolase 607809 acetyl-Coenzyme A acetyltransferase 1 ACAT NA 1979337 Standard NM_000019 NM_000019 NA Approved THIL uc001pjy.3 P24752 OTTHUMG00000166381 ENST00000265838.4:c.941-15C>T chr11.hg19:g.108014695C>T NA B2R6H1|G3XAB4|Q96FG8 hg19 CCDS8339.1 0.02 1.720819 CCCxCTT COVERED NOVEL ACAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389474.1 0 3.611285 KEEP 0 0 0 12 399 CC 0.993634 0.993403 0 + 20 70 648 0 0 57.473243 42 70 1343 139 ENST00000265838.4 0.322581 0.999768 DDX10 1662 __UNKNOWN__ __UNKNOWN__ 11 108536086 108536086 __UNKNOWN__ Intron SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:108536086G>C ENST00000322536.3 + 1 315 DDX10_ENST00000526794.1_Intron NM_004398.2 NP_004389.2 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 NA NA metabolic process (GO:0008152) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724) breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) GCGCTGGGGAGGGGGCTCGGG 0.652 NA NA T NUP98 AML* NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 11 11q22-q23 1662 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 L 0 14 17 16 NA NA NA 11 NA NA 108536086 2193 4295 6488 SO:0001627 intron_variant U28042 CCDS8342.1 11q22-q23 2005-10-11 2003-06-13 ENSG00000178105 ENSG00000178105 1662 DEAD-boxes 2735 protein-coding gene gene with protein product 601235 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase) NA 8660968 Standard NM_004398 NM_004398 NA Approved HRH-J8 uc001pkm.3 Q13206 OTTHUMG00000166540 ENST00000322536.3:c.186+20G>C chr11.hg19:g.108536086G>C NA B2RCQ3|Q5BJD8 hg19 CCDS8342.1 0.02 4.03254 GGAxGGG COVERED NOVEL DDX10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390343.1 0 20.463151 KEEP 0 0 0 68 2286 GG 1 0.999998 0 + 15 60 429 0 0 30.524964 104 60 3695 222 ENST00000322536.3 0.12605 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 109961905 109961905 __UNKNOWN__ IGR SNP C C T rs117444665 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:109961905C>T NA NA RP11-262A12.1 (267332 upstream) : ZC3H12C (2181 downstream) NA NA NA cacttgaggccaggagtttga 0.502 NA NA C||| 108 0.0215655 0.0666 0.0029 5008 , , NA 19816 0 NA 0.0129 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr11.hg19:g.109961905C>T NA hg19 0.02 -0.035092 GGCxAGG UNCOVERED NOVEL 0 5 3.009823 KEEP 0 0 0 10 353 CC 0.992708 0.019836 0 2 60 67 0 0 6.449894 2 60 76 19 0.5 0.019982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 111895490 111895490 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:111895490C>A NA NA DIXDC1 (2182 upstream) : DLAT (47 downstream) NA NA NA CCTTTCGTTACCACTTGGCTG 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr11.hg19:g.111895490C>A NA hg19 0.02 12.627687 TTAxCAC COVERED NOVEL 0 4 21.665571 KEEP 0 0 0 72 2404 CC 1 1 0 98 60 3420 0 0 299.78527 244 60 8665 466 0.28655 1 KMT2A 4297 __UNKNOWN__ __UNKNOWN__ 11 118309863 118309863 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:118309863G>A ENST00000534358.1 + 1 455 KMT2A_ENST00000389506.5_Intron|KMT2A_ENST00000354520.4_Intron NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 Q03164 KMT2A_HUMAN lysine (K)-specific methyltransferase 2A NA NA anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634) AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) NA TTTTTTAAAAGATACAGCAGC 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 9 10 10 NA NA NA 11 NA NA 118309863 871 1984 2855 SO:0001627 intron_variant L04284 CCDS31686.1, CCDS55791.1 11q23 2014-09-17 2013-05-09 2013-05-09 ENSG00000118058 ENSG00000118058 4297 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 7132 protein-coding gene gene with protein product 159555 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog), myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) MLL NA 1720549 Standard NM_005933 NM_001197104 NA Approved TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A Q03164 OTTHUMG00000166337 ENST00000534358.1:c.432+2204G>A chr11.hg19:g.118309863G>A NA E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3 hg19 CCDS55791.1 0.02 1.091277 AAAxATA COVERED NOVEL KMT2A-001 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000389228.2 0 5.888922 KEEP 0 3 24 29 805 GG 0.999997 0.999997 0 + 18 60 242 0 0 10.005906 125 60 3806 214 ENST00000534358.1 0.125874 1 USP2 9099 __UNKNOWN__ __UNKNOWN__ 11 119243531 119243531 __UNKNOWN__ Silent SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:119243531G>T ENST00000260187.2 - 2 954 c.660C>A c.(658-660)gtC>gtA p.V220V USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 220 NA cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511) cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) TGATTTCAGGGACTCGTGAGG 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 58 60 59 NA NA NA 11 NA NA 119243531 2199 4295 6494 SO:0001819 synonymous_variant AF079564 CCDS8422.1, CCDS8423.1, CCDS58189.1 11q23.3 2008-02-05 2005-08-08 ENSG00000036672 9099 Ubiquitin-specific peptidases 12618 protein-coding gene gene with protein product 604725 ubiquitin specific protease 2 NA 12838346 Standard NM_171997 NM_004205 NA Approved UBP41 uc001pwm.4 O75604 ENST00000260187.2:c.660C>A chr11.hg19:g.119243531G>T NA B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21 hg19 CCDS8422.1 0.02 17.119693 AGGxACT COVERED NOVEL USP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388361.2 2 42.331146 KEEP 0 0 0 141 4672 GG 1 1 0 - 122 60 3791 0 0 322.590838 332 60 11554 779 ENST00000260187.2 0.268722 1 OR10G9 219870 __UNKNOWN__ __UNKNOWN__ 11 123893801 123893801 __UNKNOWN__ Missense_Mutation SNP A A G rs74791330 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:123893801A>G ENST00000375024.1 + 1 82 c.82A>G c.(82-84)Atc>Gtc p.I28V NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 28 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.I28V(3) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ACTCTTTGGAATCTTCCTGGT 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3 Substitution - Missense(3) lung(1)|stomach(1)|skin(1) 200 185 190 NA NA NA 11 NA NA 123893801 2201 4299 6500 SO:0001583 missense AB065756 CCDS31703.1 11q24.1 2012-08-09 ENSG00000236981 ENSG00000236981 219870 GPCR / Class A : Olfactory receptors 15129 protein-coding gene gene with protein product NA OR10G10P NA Standard NM_001001953 NM_001001953 NA Approved uc010sad.2 Q8NGN4 OTTHUMG00000165967 ENST00000375024.1:c.82A>G chr11.hg19:g.123893801A>G ENSP00000364164:p.Ile28Val NA hg19 CCDS31703.1 0.02 18.440505 GGAxTCT COVERED . . . . . . . . . . G 0.717 -0.785033 0.02907 . . ENSG00000236981 ENST00000375024 T 0.03035 4.07 3.33 -6.67 0.01783 . 0.824866 0.10366 N 0.683403 T 0.01189 0.0039 N 0.04655 -0.195 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.39035 -0.9633 10 0.02654 T 1 . 4.5432 0.12067 0.1864:0.3395:0.3804:0.0938 . 28 Q8NGN4 O10G9_HUMAN V 28 ENSP00000364164:I28V ENSP00000364164:I28V I + 1 0 OR10G9 123399011 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -4.504000 0.00224 -2.845000 0.00333 -2.883000 0.00097 ATC NOVEL OR10G9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387269.1 2 4.784502 KEEP 10 2 72 41 1260 AA 1 1 0 + 33 49 1159 0 0 82.130044 369 60 12701 577 ENST00000375024.1 0.08209 1 ROBO4 54538 __UNKNOWN__ __UNKNOWN__ 11 124765565 124765565 __UNKNOWN__ Missense_Mutation SNP G G A rs367662644 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:124765565G>A ENST00000306534.3 - 6 1309 c.824C>T c.(823-825)gCg>gTg p.A275V ROBO4_ENST00000533054.1_Missense_Mutation_p.A130V NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 275 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TTGGGCAGGCGCAGCAGGGCC 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G VAL/ALA 1,4399 0,1,2199 35 43 40 NA 824 4.6 1 11 40 1,8589 0,1,4294 no missense ROBO4 NM_019055.5 64 0,2,6493 AA,AG,GG NA 0.0116,0.0227,0.0154 probably-damaging 275/1008 124765565 2,12988 2200 4295 6495 SO:0001583 missense AF361473 CCDS8455.1, CCDS73409.1 11q24.2 2013-02-11 2011-12-09 ENSG00000154133 ENSG00000154133 54538 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 17985 protein-coding gene gene with protein product magic roundabout 607528 roundabout homolog 4 (Drosophila) NA 11076864 Standard NM_019055 NM_019055 NA Approved FLJ20798, MRB, ECSM4 uc001qbg.3 Q8WZ75 OTTHUMG00000165936 ENST00000306534.3:c.824C>T chr11.hg19:g.124765565G>A ENSP00000304945:p.Ala275Val NA A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8 hg19 CCDS8455.1 0.02 9.927318 GGCxCAG COVERED . . . . . . . . . . G 19.59 3.855528 0.71719 2.27E-4 1.16E-4 ENSG00000154133 ENST00000306534;ENST00000374963;ENST00000533054 T;T 0.54279 0.58;0.58 5.49 4.57 0.56435 Fibronectin, type III (3);Immunoglobulin-like fold (1); 0.000000 0.38959 N 0.001520 T 0.65165 0.2665 L 0.57536 1.79 0.32609 N 0.524814 D;D 0.89917 1.0;1.0 D;D 0.80764 0.994;0.972 T 0.70200 -0.4937 10 0.41790 T 0.15 . 10.7032 0.45939 0.0882:0.0:0.9118:0.0 . 165;275 Q8WZ75-3;Q8WZ75 .;ROBO4_HUMAN V 275;165;130 ENSP00000304945:A275V;ENSP00000437129:A130V ENSP00000304945:A275V A - 2 0 ROBO4 124270775 0.989000 0.36119 1.000000 0.80357 0.746000 0.42486 2.716000 0.47219 2.575000 0.86900 0.561000 0.74099 GCG NOVEL ROBO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387111.1 1 10.530722 KEEP 0 0 0 35 1154 GG 0.999999 0.999999 0 - 90 60 2961 0 0 265.467984 174 60 5746 359 ENST00000306534.3 0.340909 1 CDON 50937 __UNKNOWN__ __UNKNOWN__ 11 125864944 125864944 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:125864944G>A ENST00000392693.3 - 13 2493 c.2366C>T c.(2365-2367)tCa>tTa p.S789L CDON_ENST00000531738.1_Missense_Mutation_p.S166L|CDON_ENST00000263577.7_Missense_Mutation_p.S789L NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 789 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TTTGTATGTTGAACCTTTGAG 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 57 59 58 NA NA NA 11 NA NA 125864944 2201 4299 6500 SO:0001583 missense AF004841 CCDS8468.1, CCDS58192.1 11q24.2 2013-02-11 2012-12-07 ENSG00000064309 ENSG00000064309 50937 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 17104 protein-coding gene gene with protein product cell adhesion molecule-related/down-regulated by oncogenes 608707 Cdon homolog (mouse) NA 9214393 Standard NM_016952 NM_016952 NA Approved ORCAM, CDO, CDON1 uc009zbw.3 Q4KMG0 OTTHUMG00000165862 ENST00000392693.3:c.2366C>T chr11.hg19:g.125864944G>A ENSP00000376458:p.Ser789Leu NA O14631 hg19 CCDS58192.1 0.02 1.894916 GTTxAAC COVERED . . . . . . . . . . G 13.84 2.357375 0.41801 . . ENSG00000064309 ENST00000392693;ENST00000531738;ENST00000263577 T;T;T 0.58358 0.34;0.34;0.34 6.04 6.04 0.98038 Fibronectin, type III (4); 0.000000 0.43579 D 0.000542 T 0.56587 0.1995 L 0.33137 0.985 0.53688 D 0.999974 D;D;B 0.56287 0.975;0.968;0.221 P;P;B 0.59056 0.851;0.767;0.309 T 0.54173 -0.8333 10 0.45353 T 0.12 -17.3563 11.8399 0.52348 0.0:0.1229:0.7345:0.1425 . 789;789;166 Q4KMG0;Q4KMG0-2;E9PN78 CDON_HUMAN;.;. L 789;166;789 ENSP00000376458:S789L;ENSP00000432901:S166L;ENSP00000263577:S789L ENSP00000263577:S789L S - 2 0 CDON 125370154 1.000000 0.71417 1.000000 0.80357 0.305000 0.27757 5.096000 0.64535 2.873000 0.98535 0.563000 0.77884 TCA NOVEL CDON-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386749.2 1 2.708658 KEEP 0 0 0 9 304 GG 0.99254 0.991657 0 - 28 70 977 0 0 88.752844 51 60 1842 94 ENST00000392693.3 0.35443 0.99911 ST3GAL4 6484 __UNKNOWN__ __UNKNOWN__ 11 126277357 126277357 __UNKNOWN__ Intron SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:126277357G>C ENST00000526727.1 + 5 654 ST3GAL4_ENST00000532243.1_Intron|ST3GAL4_ENST00000530591.1_Intron|ST3GAL4_ENST00000534457.1_Intron|ST3GAL4_ENST00000227495.6_Intron|ST3GAL4_ENST00000534083.1_Intron|ST3GAL4_ENST00000526756.1_Intron|ST3GAL4_ENST00000356132.4_Intron|ST3GAL4_ENST00000392669.2_Intron|ST3GAL4_ENST00000444328.2_Intron|ST3GAL4_ENST00000449406.2_Intron Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288) endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) TCGGGTACCAGGGTCAGGGGA 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X74570 CCDS8474.1, CCDS58193.1, CCDS58194.1 11q23-q24 2013-03-01 2003-01-14 2005-02-07 ENSG00000110080 ENSG00000110080 6484 2.4.99.4 Sialyltransferases 10864 protein-coding gene gene with protein product ST3Gal IV 104240 sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase) CGS23, SIAT4, NANTA3, SIAT4C NA 8557707, 8288606 Standard NM_006278 NM_006278 NA Approved STZ, SAT3, FLJ11867 uc001qds.3 Q11206 OTTHUMG00000165830 ENST00000526727.1:c.281-112G>C chr11.hg19:g.126277357G>C NA A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9 hg19 CCDS58193.1 0.02 4.068513 CCAxGGT COVERED NOVEL ST3GAL4-003 PUTATIVE alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386470.1 0 3.610552 KEEP 0 0 0 12 392 GG 0.993634 0.993634 0 + 42 60 1419 0 0 123.455492 107 60 3832 167 ENST00000526727.1 0.281879 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 128754478 128754478 __UNKNOWN__ IGR SNP G G A rs4937382 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr11:128754478G>A NA NA KCNJ1 (17210 upstream) : KCNJ5 (6772 downstream) NA NA NA gcacgatctcggctcactgca 0.502 NA NA G||| 1013 0.202276 0.0227 0.2378 5008 , , NA 15324 0.1865 NA 0.3111 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr11.hg19:g.128754478G>A NA hg19 0.02 -0.052637 CTCxGCT UNCOVERED NOVEL 0 1 3.009606 KEEP 1 0 0 10 339 GG 0.99254 0.036491 0 2 43 71 0 0 6.395663 4 60 138 24 0.333333 0.036766 LINC00937 389634 __UNKNOWN__ __UNKNOWN__ 12 8493270 8493270 __UNKNOWN__ lincRNA SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:8493270C>G ENST00000544461.1 - 0 1081 RP11-113C12.4_ENST00000537764.1_RNA long intergenic non-protein coding RNA 937 NA NA NA ccatgttggccaggatggtct 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC073935 12p13.31 2013-05-30 ENSG00000226091 ENSG00000226091 389634 Long non-coding RNAs 48629 non-coding RNA RNA, long non-coding NA NA Standard NR_024420 NA Approved OTTHUMG00000168663 ENST00000544461.1: chr12.hg19:g.8493270C>G NA hg19 0.02 -0.184229 GGCxAGG COVERED NOVEL LINC00937-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000400511.1 0 4.815143 KEEP 3 0 0 16 531 CC 0.995343 0.421506 0 - 3 45 95 0 0 7.192062 18 48 637 43 ENST00000544461.1 0.142857 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9459809 9459809 __UNKNOWN__ IGR SNP G G C rs200346295 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:9459809G>C NA NA SNORA75 (20391 upstream) : RP13-735L24.1 (60250 downstream) NA NA NA CAGCCTCAGTGAGAGCACCCT 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr12.hg19:g.9459809G>C NA hg19 0.02 4.032536 AGTxAGA COVERED NOVEL 0 0 4.349217 KEEP 18 1 33 26 890 GG 0.999988 0.999986 0 27 47 932 0 0 78.413522 92 60 3317 198 0.226891 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9464350 9464350 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:9464350G>C NA NA SNORA75 (24932 upstream) : RP13-735L24.1 (55709 downstream) NA NA NA AGAGAGGCCAGGTGACAGAGG 0.557 NA NA g||| 1 0.000199681 0 0 5008 , , NA -128 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr12.hg19:g.9464350G>C NA hg19 0.02 3.08086 CCAxGTG COVERED NOVEL 0 0 7.957961 KEEP 1 1 24 35 1159 GG 0.999999 0.999999 0 9 40 271 0 0 16.876096 132 60 4635 214 0.06383 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9464358 9464358 __UNKNOWN__ IGR SNP A A G rs113650130 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:9464358A>G NA NA SNORA75 (24940 upstream) : RP13-735L24.1 (55701 downstream) NA NA NA CAGGTGACAGAGGCCCTGCTC 0.557 NA NA G||| 7 0.00139776 0.0023 0 5008 , , NA -128 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr12.hg19:g.9464358A>G NA hg19 0.02 4.09481 CAGxGGC COVERED NOVEL 0 0 5.548467 KEEP 1 1 30 29 863 AA 0.999997 0.999997 0 11 40 366 0 0 25.165117 128 60 4547 203 0.079137 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9586651 9586651 __UNKNOWN__ IGR SNP T T C rs71248976 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:9586651T>C NA NA RP13-735L24.1 (36438 upstream) : SNORA75 (11002 downstream) NA NA NA GCCCAGCCCATAGCCCCCAGC 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 387 335 351 NA NA NA 12 NA NA 9586651 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA NA chr12.hg19:g.9586651T>C NA hg19 0.02 4.531357 CCAxAGC COVERED NOVEL 0 2 10.828811 KEEP 8 0 0 36 1077 TT 0.999998 0.999996 0 5 40 186 1 0 12.000088 113 60 3813 215 0.042373 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9586746 9586746 __UNKNOWN__ IGR SNP T T A rs201559465 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:9586746T>A NA NA RP13-735L24.1 (36533 upstream) : SNORA75 (10907 downstream) NA NA NA TCTGTGTGTGTGAGAGAGAAC 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr12.hg19:g.9586746T>A NA hg19 0.02 4.48087 GTGxGAG COVERED NOVEL 0 0 5.115397 KEEP 3 0 0 17 527 TT 0.999366 0.99934 0 9 47 339 0 0 24.976986 93 50 3161 145 0.088235 0.999973 RP11-726G1.1 0 __UNKNOWN__ __UNKNOWN__ 12 9723336 9723336 __UNKNOWN__ RNA SNP G G A rs200842139 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:9723336G>A ENST00000520314.1 + 0 6041 NA NA NA CTTCTCTAAGGATCAAAACAC 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000520314.1: chr12.hg19:g.9723336G>A NA hg19 0.02 1.979469 AAGxATC COVERED NOVEL RP11-726G1.1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000381543.1 6 3.310598 KEEP 0 0 0 11 374 GG 0.993072 0.977343 0 + 26 57 866 0 0 81.677776 32 60 1100 84 ENST00000520314.1 0.448276 0.984161 TM7SF3 51768 __UNKNOWN__ __UNKNOWN__ 12 27143417 27143417 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:27143417G>C ENST00000343028.4 - 6 1059 c.834C>G c.(832-834)agC>agG p.S278R TM7SF3_ENST00000542667.1_Intron NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 278 NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) CTGCCTCAAAGCTGCAAGCGT 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 127 112 117 NA NA NA 12 NA NA 27143417 2203 4300 6503 SO:0001583 missense AB032470 CCDS8710.1 12q11-q12 2012-08-10 ENSG00000064115 ENSG00000064115 51768 23049 protein-coding gene gene with protein product 605181 NA 10828615 Standard NM_016551 NM_016551 NA Approved uc010sjl.2 Q9NS93 OTTHUMG00000169243 ENST00000343028.4:c.834C>G chr12.hg19:g.27143417G>C ENSP00000342322:p.Ser278Arg NA B3KMZ3|Q9NUS4 hg19 CCDS8710.1 0.02 8.568034 AAAxCTG COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 12.54|12.54 1.969378|1.969378 0.34754|0.34754 .|. .|. ENSG00000064115|ENSG00000064115 ENST00000545303|ENST00000343028;ENST00000545344;ENST00000543655;ENST00000535819 .|T;T;T .|0.49720 .|1.3;0.77;0.77 5.0|5.0 2.03|2.03 0.26663|0.26663 .|. .|0.266919 .|0.48286 .|D .|0.000190 T|T 0.45155|0.45155 0.1328|0.1328 M|M 0.74258|0.74258 2.255|2.255 0.48395|0.48395 D|D 0.999648|0.999648 .|B .|0.16166 .|0.016 .|B .|0.16722 .|0.016 T|T 0.39035|0.39035 -0.9633|-0.9633 5|10 .|0.66056 .|D .|0.02 -7.0135|-7.0135 7.9913|7.9913 0.30242|0.30242 0.1417:0.0:0.7284:0.1299|0.1417:0.0:0.7284:0.1299 .|. .|278 .|Q9NS93 .|TM7S3_HUMAN G|R 59|278;21;69;69 .|ENSP00000342322:S278R;ENSP00000441924:S69R;ENSP00000445156:S69R .|ENSP00000342322:S278R A|S -|- 2|3 0|2 TM7SF3|TM7SF3 27034684|27034684 1.000000|1.000000 0.71417|0.71417 0.718000|0.718000 0.30602|0.30602 0.604000|0.604000 0.37047|0.37047 1.833000|1.833000 0.39161|0.39161 0.192000|0.192000 0.20272|0.20272 0.585000|0.585000 0.79938|0.79938 GCT|AGC NOVEL TM7SF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403033.1 2 9.029499 KEEP 0 0 0 30 1064 GG 0.999997 0.999997 0 - 92 60 3198 0 0 292.422256 157 60 5747 345 ENST00000343028.4 0.369478 1 PPFIBP1 8496 __UNKNOWN__ __UNKNOWN__ 12 27829479 27829479 __UNKNOWN__ Missense_Mutation SNP G G A rs376591163 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:27829479G>A ENST00000228425.6 + 18 1762 c.1529G>A c.(1528-1530)cGg>cAg p.R510Q PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R496Q|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.R374Q|PPFIBP1_ENST00000318304.8_Missense_Mutation_p.R527Q NM_003622.3 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 527 NA cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786) PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) TCCTTTGGCCGGGGCTTTTTT 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 73 72 NA NA NA 12 NA NA 27829479 2203 4300 6503 SO:0001583 missense AF034802 CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1 12p12.1 2013-01-10 8496 Sterile alpha motif (SAM) domain containing 9249 protein-coding gene gene with protein product 603141 NA 9624153, 11836260 Standard NM_003622 NM_003622 NA Approved L2, hSGT2, hSgt2p, SGT2 uc001ric.2 Q86W92 ENST00000228425.6:c.1529G>A chr12.hg19:g.27829479G>A ENSP00000228425:p.Arg510Gln NA O75336|Q86X70|Q9NY03|Q9ULJ0 hg19 CCDS8713.1 0.02 4.27925 GCCxGGG COVERED . . . . . . . . . . G 35 5.568038 0.96540 . . ENSG00000110841 ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425;ENST00000537261 T;T;T;T;T 0.76448 1.38;1.36;1.78;1.77;-1.02 5.81 5.81 0.92471 . 0.000000 0.32357 U 0.006211 D 0.86756 0.6009 M 0.64404 1.975 0.49915 D 0.999837 D;D;D;D 0.89917 0.998;0.997;1.0;0.997 P;P;D;P 0.87578 0.884;0.769;0.998;0.884 T 0.83220 -0.0069 10 0.28530 T 0.3 -20.4664 19.6776 0.95943 0.0:0.0:1.0:0.0 . 374;527;510;496 Q86W92-3;Q86W92;Q86W92-2;Q86W92-4 .;LIPB1_HUMAN;.;. Q 358;374;527;496;510;202 ENSP00000444304:R358Q;ENSP00000445425:R374Q;ENSP00000314724:R527Q;ENSP00000443442:R496Q;ENSP00000228425:R510Q ENSP00000228425:R510Q R + 2 0 PPFIBP1 27720746 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 6.071000 0.71229 2.746000 0.94184 0.655000 0.94253 CGG NOVEL PPFIBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402880.1 0 12.010561 KEEP 0 0 0 40 1268 GG 1 0.999999 0 + 6 60 204 0 0 12.898347 119 60 3889 203 ENST00000228425.6 0.048 0.999999 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31237922 31237922 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:31237922G>C ENST00000542838.1 + 5 751 c.500G>C c.(499-501)aGa>aCa p.R167T DDX11_ENST00000251758.5_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 167 Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}. NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) p.R167T(11) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612 NA NA Multiple Myeloma(12;0.14) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11 Substitution - Missense(11) lung(6)|kidney(2)|large_intestine(1)|prostate(1)|central_nervous_system(1) 18 20 19 NA NA NA 12 NA NA 31237922 2203 4299 6502 SO:0001583 missense U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.500G>C chr12.hg19:g.31237922G>C ENSP00000443426:p.Arg167Thr NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 1.730625 AAAxAGA COVERED . . . . . . . . . . C 0.009 -1.810541 0.00600 . . ENSG00000013573 ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437 T;T;T;T;T;T;T;T 0.59224 4.17;4.17;4.17;4.17;0.28;4.17;4.17;4.17 3.87 0.233 0.15386 Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1); 0.241085 0.41938 N 0.000785 T 0.18635 0.0447 N 0.00841 -1.15 0.09310 N 1 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.25779 -1.0122 10 0.12430 T 0.62 . 5.1988 0.15252 0.0:0.4995:0.1963:0.3042 . 167;167;167;167 B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2 .;DDX11_HUMAN;.;. T 167;167;167;141;138;141;167;167 ENSP00000443426:R167T;ENSP00000384703:R167T;ENSP00000251758:R167T;ENSP00000228264:R141T;ENSP00000407646:R138T;ENSP00000406457:R141T;ENSP00000440402:R167T;ENSP00000309965:R167T ENSP00000228264:R141T R + 2 0 DDX11 31129189 0.211000 0.23529 0.000000 0.03702 0.000000 0.00434 0.680000 0.25306 -0.264000 0.09365 -1.993000 0.00448 AGA NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 2 3.911614 KEEP 0 0 0 13 421 GG 0.994391 0.992864 0 + 5 25 171 0 0 11.54144 69 60 2463 115 ENST00000542838.1 0.067568 0.998465 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40894964 40894964 __UNKNOWN__ Intron SNP G G T rs719228 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:40894964G>T ENST00000454784.4 + 49 17408 Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 GCTACGACTGGGGTGGCTCCT 0.478 NA NA G||| 2604 0.519968 0.3646 0.5591 5008 , , NA 17439 0.5407 NA 0.5586 False NA ,,, NA NA NA 2504 0.6411 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10890+9834G>T chr12.hg19:g.40894964G>T NA Q8NA85 hg19 0.02 1.760107 CTGxGGT COVERED NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 1 2.386764 KEEP 0 0 0 8 236 GG 0.99257 0.992062 0 + 8 60 282 0 0 20.590731 75 60 2651 112 ENST00000454784.4 0.096386 0.999487 CACNB3 784 __UNKNOWN__ __UNKNOWN__ 12 49221286 49221286 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:49221286G>A ENST00000301050.2 + 13 1339 CACNB3_ENST00000547230.1_Intron|CACNB3_ENST00000536187.2_Intron|CACNB3_ENST00000540990.1_Intron|CACNB3_ENST00000547392.1_Intron NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit NA NA axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891) voltage-gated calcium channel activity (GO:0005245) autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) ATTGAGAGTTGAGGGGGGAAG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1 12q13 2008-05-02 ENSG00000167535 784 Calcium channel subunits 1403 protein-coding gene gene with protein product 601958 CACNLB3 NA 8119293 Standard NM_000725 NA Approved uc010sly.2 P54284 ENST00000301050.2:c.1141-82G>A chr12.hg19:g.49221286G>A NA A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913 hg19 CCDS8769.1 0.02 3.994058 GTTxAGG COVERED NOVEL CACNB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408886.1 0 4.213465 KEEP 0 0 0 14 474 GG 0.995343 0.995338 0 + 46 60 1482 0 0 137.202735 66 60 2363 142 ENST00000301050.2 0.410714 0.999995 KRT6B 3854 __UNKNOWN__ __UNKNOWN__ 12 52841672 52841672 __UNKNOWN__ Silent SNP C C T rs142297644 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:52841672C>T ENST00000252252.3 - 7 1361 c.1314G>A c.(1312-1314)aaG>aaA p.K438K NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 438 Coil 2.|Rod. NA ectoderm development (GO:0007398) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CCAGGTCCTGCTTGGCCTTCT 0.617 NA NA C||| 47 0.00938498 0.0129 0.0144 5008 , , NA 20875 0.003 NA 0.0099 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA NA 0 101 94 96 NA NA NA 12 NA NA 52841672 2203 4298 6501 SO:0001819 synonymous_variant BC034535 CCDS8828.1 12q13.13 2013-01-16 2004-08-11 ENSG00000185479 ENSG00000185479 3854 -, Intermediate filaments type II, keratins (basic) 6444 protein-coding gene gene with protein product 148042 keratin-like 1 (a type II keratin sequence) KRTL1 NA 1713141, 16831889 Standard NM_005555 NM_005555 NA Approved uc001sak.3 P04259 OTTHUMG00000169593 ENST00000252252.3:c.1314G>A chr12.hg19:g.52841672C>T NA P48669 hg19 CCDS8828.1 0.02 6.319678 CTGxTTG COVERED NOVEL KRT6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404969.1 0 5.453433 KEEP 1 1 34 30 1054 CC 0.999997 0.999997 0 - 9 47 329 0 0 21.771248 167 60 6059 247 ENST00000252252.3 0.051136 1 KRT6B 3854 __UNKNOWN__ __UNKNOWN__ 12 52843779 52843779 __UNKNOWN__ Intron SNP T T C rs380379 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:52843779T>C ENST00000252252.3 - 3 864 NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B NA NA ectoderm development (GO:0007398) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TTTGAACCCCTGGCTTCATCT 0.478 NA NA T||| 702 0.140176 0.1089 0.1671 5008 , , NA 26508 0.1637 NA 0.1133 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA NA 0 156 145 149 NA NA NA 12 NA NA 52843779 2203 4300 6503 SO:0001627 intron_variant BC034535 CCDS8828.1 12q13.13 2013-01-16 2004-08-11 ENSG00000185479 ENSG00000185479 3854 -, Intermediate filaments type II, keratins (basic) 6444 protein-coding gene gene with protein product 148042 keratin-like 1 (a type II keratin sequence) KRTL1 NA 1713141, 16831889 Standard NM_005555 NM_005555 NA Approved uc001sak.3 P04259 OTTHUMG00000169593 ENST00000252252.3:c.816+16A>G chr12.hg19:g.52843779T>C NA P48669 hg19 CCDS8828.1 0.02 6.431598 CCCxGGC COVERED NOVEL KRT6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404969.1 2 4.512728 KEEP 7 0 0 15 443 TT 0.99649 0.99649 0 - 8 49 285 0 0 18.014407 177 60 6304 216 ENST00000252252.3 0.043243 1 KRT6B 3854 __UNKNOWN__ __UNKNOWN__ 12 52843783 52843783 __UNKNOWN__ Intron SNP T T C rs535960680 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:52843783T>C ENST00000252252.3 - 3 864 NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B NA NA ectoderm development (GO:0007398) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) AACCCCTGGCTTCATCTGCTC 0.478 NA NA T||| 305 0.0609026 0.0908 0.0836 5008 , , NA 24919 0.0179 NA 0.0298 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034535 CCDS8828.1 12q13.13 2013-01-16 2004-08-11 ENSG00000185479 ENSG00000185479 3854 -, Intermediate filaments type II, keratins (basic) 6444 protein-coding gene gene with protein product 148042 keratin-like 1 (a type II keratin sequence) KRTL1 NA 1713141, 16831889 Standard NM_005555 NM_005555 NA Approved uc001sak.3 P04259 OTTHUMG00000169593 ENST00000252252.3:c.816+12A>G chr12.hg19:g.52843783T>C NA P48669 hg19 CCDS8828.1 0.02 6.135638 GGCxTCA COVERED NOVEL KRT6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404969.1 2 4.512845 KEEP 13 0 0 15 443 TT 0.99649 0.99649 0 - 9 49 327 0 0 21.141359 187 60 6631 236 ENST00000252252.3 0.045918 1 KRT6C 286887 __UNKNOWN__ __UNKNOWN__ 12 52867094 52867094 __UNKNOWN__ Missense_Mutation SNP C C T rs151117600 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:52867094C>T ENST00000252250.6 - 1 475 c.428G>A c.(427-429)aGt>aAt p.S143N NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 143 Head. NA intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) AGTCAGGAGACTCTGGTTGAC 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 35 42 NA NA NA 12 NA NA 52867094 2157 3837 5994 SO:0001583 missense L42611 CCDS8829.1 12q13.13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170465 ENSG00000170465 286887 -, Intermediate filaments type II, keratins (basic) 20406 protein-coding gene gene with protein product 612315 keratin 6E KRT6E NA 7543104, 16831889 Standard NM_173086 NM_173086 NA Approved uc001sal.4 P48668 OTTHUMG00000169596 ENST00000252250.6:c.428G>A chr12.hg19:g.52867094C>T ENSP00000252250:p.Ser143Asn NA A1L4L5|P48666|Q2TAZ9|Q7RTN9 hg19 CCDS8829.1 0.02 -0.096496 AGAxTCT UNCOVERED 448 0.20512820512820512 104 0.21138211382113822 96 0.26519337016574585 102 0.17832167832167833 146 0.19261213720316622 c 11.49 1.654850 0.29425 . . ENSG00000170465 ENST00000252250;ENST00000411979 D 0.91740 -2.9 2.98 -5.5 0.02576 . 0.657101 0.15052 N 0.283239 T 0.00073 0.0002 M 0.73598 2.24 0.40212 P 0.022368000000000055 B 0.27910 0.193 B 0.28784 0.094 T 0.30060 -0.9991 9 0.54805 T 0.06 . 12.5049 0.55975 0.0:0.4121:0.0:0.5879 . 143 P48668 K2C6C_HUMAN N 143;128 ENSP00000252250:S143N ENSP00000252250:S143N S - 2 0 KRT6C 51153361 . . 0.084000 0.20598 0.849000 0.48306 . . -1.573000 0.01659 -0.363000 0.07495 AGT NOVEL KRT6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404976.1 1 3.309295 KEEP 7 0 0 11 358 CC 0 0 0 - 7 40 243 0 0 24.508441 4 27 136 30 ENST00000252250.6 0.636364 0.120436 KRT71 112802 __UNKNOWN__ __UNKNOWN__ 12 52938306 52938306 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:52938306G>A ENST00000267119.5 - 0 1651 NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 NA NA hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GGGGCCCGGGGCAGTCTTCTC 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 146 167 159 NA NA NA 12 NA NA 52938306 2203 4300 6503 SO:0001624 3_prime_UTR_variant AJ308600 CCDS8831.1 12q13.13 2013-01-16 ENSG00000139648 ENSG00000139648 112802 -, Intermediate filaments type II, keratins (basic) 28927 protein-coding gene gene with protein product 608245 NA 11982755, 12648212, 16831889 Standard NM_033448 NM_033448 NA Approved KRT6IRS, KRT6IRS1, K6IRS1 uc001sao.3 Q3SY84 OTTHUMG00000167831 ENST00000267119.5:c.*10C>T chr12.hg19:g.52938306G>A NA B3KVC1|Q3SY85|Q96DU2 hg19 CCDS8831.1 0.02 7.681886 GGGxCAG COVERED NOVEL KRT71-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396487.1 1 10.798513 KEEP 0 0 0 36 1179 GG 0.999999 0.999999 0 - 94 60 2977 0 0 276.163186 131 60 4547 331 ENST00000267119.5 0.417778 1 KRT8 3856 __UNKNOWN__ __UNKNOWN__ 12 53298675 53298675 __UNKNOWN__ Missense_Mutation SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:53298675A>C ENST00000552551.1 - 2 523 c.91T>G c.(91-93)Tcc>Gcc p.S31A KRT8_ENST00000552150.1_Missense_Mutation_p.S59A|KRT8_ENST00000293308.6_Missense_Mutation_p.S31A|KRT8_ENST00000546897.1_Missense_Mutation_p.S31A P05787 K2C8_HUMAN keratin 8 31 Head.|Ser-rich. NA cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032) cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018) scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198) p.S31A(4) endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Tenecteplase(DB00031) CTGATGCGGGAACCGGGCCCA 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) endometrium(2)|prostate(1)|liver(1) 12 14 13 NA NA NA 12 NA NA 53298675 2120 4158 6278 SO:0001583 missense BC000654 CCDS8841.1, CCDS58234.1 12q13.13 2013-01-16 ENSG00000170421 ENSG00000170421 3856 -, Intermediate filaments type II, keratins (basic) 6446 protein-coding gene gene with protein product 148060 NA 2434381, 1705144, 16831889 Standard NM_002273 NM_002273 NA Approved CARD2, K8, CK8, CYK8, K2C8, KO uc009zmk.1 P05787 OTTHUMG00000169881 ENST00000552551.1:c.91T>G chr12.hg19:g.53298675A>C ENSP00000447566:p.Ser31Ala NA A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60 hg19 CCDS8841.1 0.02 1.944892 GGGxACC COVERED . . . . . . . . . . - 0.012 -1.651707 0.00785 . . ENSG00000170421 ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000548998;ENST00000547413;ENST00000546542 T;T;T;T;T;T;T;T 0.80393 -1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37 4.05 -8.11 0.01082 . 0.706613 0.13676 N 0.370518 T 0.40619 0.1124 N 0.01197 -0.965 0.09310 N 1 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.001;0.001;0.0 T 0.43589 -0.9382 10 0.05351 T 0.99 . 6.5956 0.22672 0.4212:0.312:0.0:0.2668 . 59;31;31 F8VXB4;F8VU64;P05787 .;.;K2C8_HUMAN A 31;31;31;31;59;31;71;31;109 ENSP00000447566:S31A;ENSP00000293308:S31A;ENSP00000447402:S31A;ENSP00000449404:S59A;ENSP00000447881:S31A;ENSP00000447040:S71A;ENSP00000448681:S31A;ENSP00000450228:S109A ENSP00000293308:S31A S - 1 0 KRT8 51584942 0.005000 0.15991 0.000000 0.03702 0.065000 0.16274 -0.018000 0.12568 -3.264000 0.00201 -0.290000 0.09829 TCC NOVEL KRT8-001 KNOWN alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406385.1 1 6.016498 KEEP 0 0 0 20 596 AA 0.999863 0.990828 0 - 4 27 142 0 0 9.671271 58 60 1893 104 ENST00000552551.1 0.064516 0.990964 CSAD 51380 __UNKNOWN__ __UNKNOWN__ 12 53573510 53573510 __UNKNOWN__ Intron SNP C C T rs77274322 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:53573510C>T ENST00000444623.1 - 2 178 CSAD_ENST00000453446.2_Intron|CSAD_ENST00000542115.1_Intron|CSAD_ENST00000267085.4_Intron|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000379846.1_Intron NM_001244705.1 NP_001231634.1 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase NA NA cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412) pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151) TTTTTTTTTTCTTTTGGTATC 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(109;252 1546 16882 28524 44645) NA NA 0 71 55 60 NA NA NA 12 NA NA 53573510 692 1591 2283 SO:0001627 intron_variant AB044561 CCDS8848.2, CCDS58235.1 12q13.11-q14.3 2008-08-04 ENSG00000139631 ENSG00000139631 51380 18966 protein-coding gene gene with protein product P-selectin cytoplasmic tail-associated protein NA NA 15489334 Standard NM_015989 NM_015989 NA Approved PCAP, CSD uc001sbz.3 Q9Y600 OTTHUMG00000048076 ENST00000444623.1:c.90-584G>A chr12.hg19:g.53573510C>T NA A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601 hg19 CCDS58235.1 0.02 6.495935 TTTxTTT COVERED NOVEL CSAD-017 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343697.1 2 5.68246 KEEP 0 7 107 58 1627 CC 1 1 0 - 20 60 369 0 1 17.520667 242 60 7020 366 ENST00000444623.1 0.076336 1 HOXC11 3227 __UNKNOWN__ __UNKNOWN__ 12 54370424 54370424 __UNKNOWN__ 3'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:54370424C>T ENST00000546378.1 + 0 2258 O43248 HXC11_HUMAN homeobox C11 NA NA anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) large_intestine(1)|ovary(1) 2 AAGCTGAGGACATTCCATAGC 0.557 NA NA T NUP98 AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 12 12q13.3 3227 homeo box C11 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8867.1 12q13.13 2011-06-20 2005-12-22 ENSG00000123388 ENSG00000123388 3227 Homeoboxes / ANTP class : HOXL subclass 5123 protein-coding gene gene with protein product 605559 homeo box C11 HOX3H NA 1973146, 1358459 Standard NM_014212 NA Approved uc001sem.3 O43248 OTTHUMG00000160011 ENST00000546378.1:c.*1227C>T chr12.hg19:g.54370424C>T NA A8K7D1|Q96DH2 hg19 CCDS8867.1 0.02 5.756804 GGAxATT COVERED NOVEL HOXC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358869.2 1 9.0291 KEEP 0 0 0 30 1045 CC 0.999997 0.999997 0 + 69 60 2331 0 0 215.69165 103 60 3768 253 ENST00000546378.1 0.401163 1 GDF11 10220 __UNKNOWN__ __UNKNOWN__ 12 56142798 56142798 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:56142798T>C ENST00000257868.5 + 2 880 NM_005811.3 NP_005802.1 O95390 GDF11_HUMAN growth differentiation factor 11 NA NA camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657) extracellular space (GO:0005615)|protein complex (GO:0043234) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 GGTGGATATGTGTAACCTGGC 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 13 11 12 NA NA NA 12 NA NA 56142798 2201 4296 6497 SO:0001627 intron_variant AF100907 CCDS8891.1 12q13.13 2008-08-01 10220 4216 protein-coding gene gene with protein product 603936 NA 15988002 Standard NM_005811 NA Approved BMP-11 uc001shq.3 O95390 ENST00000257868.5:c.843+31T>C chr12.hg19:g.56142798T>C NA Q9UID1|Q9UID2 hg19 CCDS8891.1 0.02 1.956466 ATGxGTA COVERED NOVEL GDF11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407842.3 0 6.920686 KEEP 0 0 0 23 715 TT 0.999892 0.997445 0 + 31 60 936 0 0 87.007661 41 60 1428 100 ENST00000257868.5 0.430556 0.997553 DPY19L2 283417 __UNKNOWN__ __UNKNOWN__ 12 64041106 64041106 __UNKNOWN__ Missense_Mutation SNP T T C rs200602630 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:64041106T>C ENST00000324472.4 - 5 811 c.628A>G c.(628-630)Atg>Gtg p.M210V RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 210 NA multicellular organismal development (GO:0007275)|spermatid development (GO:0007286) integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634) transferase activity, transferring glycosyl groups (GO:0016757) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AATAAATTCATTATTCCCATG 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 64 68 67 NA NA NA 12 NA NA 64041106 2203 4298 6501 SO:0001583 missense CCDS31851.1 12q14.2 2012-11-14 ENSG00000177990 ENSG00000177990 283417 19414 protein-coding gene gene with protein product spermatogenesis associated 34 613893 NA 12975309 Standard NM_173812 XM_006719348 NA Approved FLJ32949, SPATA34 uc001srp.1 Q6NUT2 OTTHUMG00000168712 ENST00000324472.4:c.628A>G chr12.hg19:g.64041106T>C ENSP00000315988:p.Met210Val NA A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9 hg19 CCDS31851.1 0.02 -0.38597 TCAxTAT COVERED 137 0.06272893772893773 57 0.11585365853658537 8 0.022099447513812154 55 0.09615384615384616 17 0.022427440633245383 T 2.494 -0.316745 0.05386 . . ENSG00000177990 ENST00000324472 T 0.54479 0.57 2.35 1.07 0.20283 . 0.097071 0.64402 U 0.000002 T 0.00440 0.0014 . . . 0.80722 D 1 B 0.24258 0.1 B 0.22152 0.038 T 0.04373 -1.0956 8 . . . . 4.6287 0.12491 0.2818:0.0:0.0:0.7182 . 210 Q6NUT2 D19L2_HUMAN V 210 ENSP00000315988:M210V . M - 1 0 DPY19L2 62327373 1.000000 0.71417 0.995000 0.50966 0.654000 0.38779 3.307000 0.51888 0.118000 0.18165 0.155000 0.16302 ATG NOVEL DPY19L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400689.2 0 3.912398 KEEP 0 0 0 13 435 TT 0.994391 0.91302 0 - 3 21 111 0 0 7.776557 41 60 1462 84 ENST00000324472.4 0.068182 0.918171 NAP1L1 4673 __UNKNOWN__ __UNKNOWN__ 12 76441173 76441173 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:76441173G>A ENST00000261182.8 - 0 2698 NAP1L1_ENST00000393263.3_3'UTR NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 NA NA DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284) membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) ttttttaaaaGAAAACAGCAT 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9013.1 12q21.1 2010-03-17 ENSG00000187109 ENSG00000187109 4673 7637 protein-coding gene gene with protein product 164060 NA 8297347 Standard NM_139207 NM_004537 NA Approved NRP, NAP1, NAP1L, MGC8688, MGC23410 uc001sxx.2 P55209 ENST00000261182.8:c.*1036C>T chr12.hg19:g.76441173G>A NA B3KNT8 hg19 CCDS9013.1 0.02 1.792461 AAAxAAA COVERED NOVEL NAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405850.3 0 3.705782 KEEP 0 2 20 20 610 GG 0.999879 0.981836 0 - 10 60 143 1 0 8.22984 41 60 1222 102 ENST00000261182.8 0.196078 0.981955 CCDC38 120935 __UNKNOWN__ __UNKNOWN__ 12 96310962 96310962 __UNKNOWN__ Silent SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:96310962A>T ENST00000344280.3 - 4 806 c.249T>A c.(247-249)ggT>ggA p.G83G NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 83 NA breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CAAATGACCTACCACTCCTTT 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 90 87 88 NA NA NA 12 NA NA 96310962 2203 4300 6503 SO:0001819 synonymous_variant AK097408 CCDS9056.1 12q23.1 2005-11-02 ENSG00000165972 120935 26843 protein-coding gene gene with protein product NA NA Standard NM_182496 NM_182496 NA Approved FLJ40089 uc001tek.2 Q502W7 OTTHUMG00000170352 ENST00000344280.3:c.249T>A chr12.hg19:g.96310962A>T NA Q8N835 hg19 CCDS9056.1 0.02 4.105735 CCTxCCA COVERED NOVEL CCDC38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408634.1 0 7.521415 KEEP 0 0 0 25 739 AA 0.999931 0.99993 0 - 86 60 3023 0 0 311.187926 36 60 1192 196 ENST00000344280.3 0.704918 0.999999 TDG 6996 __UNKNOWN__ __UNKNOWN__ 12 104359677 104359677 __UNKNOWN__ 5'UTR SNP A A G rs112179075 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:104359677A>G ENST00000392872.3 + 0 96 TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_5'UTR NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) GCTTGAGTCCAGCCACTGTCT 0.642 NA NA Base excision repair (BER), DNA glycosylases NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U51166 CCDS9095.1 12q24.1 2014-05-14 ENSG00000139372 ENSG00000139372 6996 3.2.2.29 11700 protein-coding gene gene with protein product G/T mismatch-specific thymine DNA glycosylase 601423 NA 8662714, 9299239 Standard NM_003211 NA Approved uc001tkg.3 Q13569 OTTHUMG00000168418 ENST00000392872.3:c.-139A>G chr12.hg19:g.104359677A>G NA Q8IUZ6|Q8IZM3 hg19 CCDS9095.1 0.02 1.986016 TCCxGCC COVERED NOVEL TDG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399673.2 4 9.695573 KEEP 0 3 93 65 1863 AA 1 0.999218 0 + 5 60 168 0 0 11.069856 75 60 2624 176 ENST00000392872.3 0.0625 0.999218 ATXN2 6311 __UNKNOWN__ __UNKNOWN__ 12 112036800 112036800 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:112036800C>T ENST00000542287.2 - 1 99 ATXN2_ENST00000377617.3_Silent_p.Q173Q|ATXN2_ENST00000550104.1_Silent_p.Q173Q|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000608853.1_Silent_p.Q13Q|ATXN2_ENST00000535949.1_Intron Q99700 ATX2_HUMAN ataxin 2 NA NA cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802) epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 gctgctgctgctgctgctgct 0.726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 12 NA NA 112036800 723 1787 2510 SO:0001627 intron_variant U80749 CCDS31902.1 12q23-q24.1 2014-09-17 2004-08-12 2004-08-13 ENSG00000204842 ENSG00000204842 6311 Ataxins 10555 protein-coding gene gene with protein product trinucleotide repeat containing 13 601517 spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) SCA2, TNRC13 NA 8358438, 9225980 Standard NM_002973 NM_002973 NA Approved ATX2 uc001tsj.3 Q99700 OTTHUMG00000133475 ENST00000542287.2:c.63+578G>A chr12.hg19:g.112036800C>T NA A6NLD4|Q6ZQZ7|Q99493 hg19 0.02 -0.298278 CTGxTGC COVERED NOVEL ATXN2-011 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404980.1 0 2.242624 KEEP 0 1 33 19 663 CC 0.999863 0.780953 0 - 4 60 136 0 0 10.216497 29 70 1040 67 ENST00000542287.2 0.121212 0.78106 MAPKAPK5 8550 __UNKNOWN__ __UNKNOWN__ 12 112306534 112306534 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:112306534C>A ENST00000551404.2 + 5 392 MAPKAPK5_ENST00000550735.2_Intron|MAPKAPK5_ENST00000546394.1_Intron Q8IW41 MAPK5_HUMAN mitogen-activated protein kinase-activated protein kinase 5 NA NA activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674) endometrium(1)|lung(11)|ovary(1) 13 tttAACTTAACAAAATCAAAT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 8 7 8 NA NA NA 12 NA NA 112306534 1760 3981 5741 SO:0001627 intron_variant AF032437 CCDS44975.1, CCDS44976.1 12q24.13 2012-05-30 ENSG00000089022 ENSG00000089022 8550 6889 protein-coding gene gene with protein product 606723 NA 9628874 Standard NM_139078 NM_003668 NA Approved PRAK uc001tta.4 Q8IW41 OTTHUMG00000169605 ENST00000551404.2:c.285-23C>A chr12.hg19:g.112306534C>A NA B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86 hg19 CCDS44975.1 0.02 1.450978 TAAxAAA COVERED NOVEL MAPKAPK5-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000405019.2 0 4.158476 KEEP 0 0 0 14 394 CC 0.995343 0.986349 0 + 8 60 146 0 0 8.24665 54 60 1670 112 ENST00000551404.2 0.129032 0.990964 PXN 5829 __UNKNOWN__ __UNKNOWN__ 12 120703447 120703447 __UNKNOWN__ 5'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:120703447C>T ENST00000228307.7 - 0 127 PXN_ENST00000424649.2_5'UTR|PXN_ENST00000267257.7_5'UTR NM_001080855.2 NP_001074324.1 P49023 PAXI_HUMAN paxillin NA NA activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGACCACGGGCGCCGGCTCAG 0.756 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 3 3 3 NA NA NA 12 NA NA 120703447 1487 3446 4933 SO:0001623 5_prime_UTR_variant U14588 CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1 12q24 2006-01-23 ENSG00000089159 ENSG00000089159 5829 9718 protein-coding gene gene with protein product 602505 NA 7534286 Standard NM_002859 NM_001080855 NA Approved uc001txv.3 P49023 OTTHUMG00000169169 ENST00000228307.7:c.-15G>A chr12.hg19:g.120703447C>T NA B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4 hg19 CCDS44997.1 0.02 1.74548 GGGxGCC COVERED NOVEL PXN-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000402679.4 0 13.8416 KEEP 0 0 0 46 1512 CC 1 0.999622 0 - 35 60 1139 0 0 105.558634 50 60 1554 183 ENST00000228307.7 0.411765 0.999622 KDM2B 84678 __UNKNOWN__ __UNKNOWN__ 12 122018272 122018272 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:122018272T>G ENST00000377071.4 - 1 199 KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_5'UTR|KDM2B_ENST00000538046.2_Intron NM_032590.4 NP_115979.3 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B NA NA embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CTTGGGGGGGTGGGGGCGGCG 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ459424 CCDS41849.1, CCDS41850.1 12q24.31 2014-02-18 2009-04-06 2009-04-06 ENSG00000089094 ENSG00000089094 84678 F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases 13610 protein-coding gene gene with protein product jumonji C domain-containing histone demethylase 1B 609078 F-box and leucine-rich repeat protein 10 FBXL10 NA 10799292 Standard NM_032590 NM_032590 NA Approved PCCX2, CXXC2, Fbl10, JHDM1B uc001uat.3 Q8NHM5 OTTHUMG00000169071 ENST00000377071.4:c.126+418A>C chr12.hg19:g.122018272T>G NA A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75 hg19 CCDS41850.1 0.02 1.555824 GGGxGGG COVERED NOVEL KDM2B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402132.2 0 4.918253 KEEP 0 1 36 29 742 TT 0.999997 0.963771 0 - 7 60 137 0 0 8.611758 41 60 1045 97 ENST00000377071.4 0.145833 0.963774 LRRC43 254050 __UNKNOWN__ __UNKNOWN__ 12 122672301 122672301 __UNKNOWN__ Silent SNP C C T rs369485593 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:122672301C>T ENST00000339777.4 + 4 604 c.576C>T c.(574-576)caC>caT p.H192H LRRC43_ENST00000425921.1_Silent_p.H7H NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 192 NA NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGTGTGCCCACCCACCCGCCG 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 57 62 61 NA NA NA 12 NA NA 122672301 2009 4167 6176 SO:0001819 synonymous_variant AK124107 CCDS45001.1 12q24.31 2014-09-11 ENSG00000158113 ENSG00000158113 254050 28562 protein-coding gene gene with protein product NA NA 12477932 Standard NM_152759 NM_152759 NA Approved MGC35140 uc009zxm.3 Q8N309 OTTHUMG00000168915 ENST00000339777.4:c.576C>T chr12.hg19:g.122672301C>T NA Q6ZVT9 hg19 CCDS45001.1 0.02 14.081002 CCAxCCA COVERED NOVEL LRRC43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401589.1 0 25.870196 KEEP 0 0 0 86 2870 CC 1 1 0 + 140 60 4517 0 0 409.736084 240 60 8386 595 ENST00000339777.4 0.368421 1 LRRC43 254050 __UNKNOWN__ __UNKNOWN__ 12 122677504 122677504 __UNKNOWN__ Silent SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:122677504G>A ENST00000339777.4 + 7 1330 c.1302G>A c.(1300-1302)ctG>ctA p.L434L LRRC43_ENST00000425921.1_Silent_p.L249L NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 434 NA NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CAGAAGAGCTGGCCAAGTTGA 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 56 55 NA NA NA 12 NA NA 122677504 2032 4181 6213 SO:0001819 synonymous_variant AK124107 CCDS45001.1 12q24.31 2014-09-11 ENSG00000158113 ENSG00000158113 254050 28562 protein-coding gene gene with protein product NA NA 12477932 Standard NM_152759 NM_152759 NA Approved MGC35140 uc009zxm.3 Q8N309 OTTHUMG00000168915 ENST00000339777.4:c.1302G>A chr12.hg19:g.122677504G>A NA Q6ZVT9 hg19 CCDS45001.1 0.02 4.337107 GCTxGCC COVERED NOVEL LRRC43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401589.1 0 5.1159 KEEP 0 0 0 17 559 GG 0.999366 0.999357 0 + 33 60 1120 0 0 99.034027 74 60 2628 151 ENST00000339777.4 0.308411 0.999991 VPS33A 65082 __UNKNOWN__ __UNKNOWN__ 12 122723306 122723306 __UNKNOWN__ Intron SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:122723306T>A ENST00000267199.4 - 10 1277 RP11-512M8.5_ENST00000535844.1_Intron NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) NA NA lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192) early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) acatatacatttacatataca 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 61 64 NA NA NA 12 NA NA 122723306 2203 4300 6503 SO:0001627 intron_variant AK026048 CCDS9231.1 12q24.31 2008-06-23 2006-04-04 ENSG00000139719 ENSG00000139719 65082 18179 protein-coding gene gene with protein product 610034 vacuolar protein sorting 33A (yeast) NA 11250079 Standard NM_022916 NA Approved uc001ucd.3 Q96AX1 OTTHUMG00000168920 ENST00000267199.4:c.1165-35A>T chr12.hg19:g.122723306T>A NA Q547V4|Q9H5Q0 hg19 CCDS9231.1 0.02 2.150063 CATxTAC COVERED NOVEL VPS33A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401607.2 6 2.235632 KEEP 0 4 85 38 1057 TT 1 1 0 - 16 60 279 0 1 14.219676 126 60 3942 229 ENST00000267199.4 0.112676 1 HCAR2 338442 __UNKNOWN__ __UNKNOWN__ 12 123186699 123186699 __UNKNOWN__ 3'UTR SNP C C G rs143443624 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:123186699C>G ENST00000328880.5 - 0 1191 HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 NA NA negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nicotinic acid receptor activity (GO:0070553) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Niacin(DB00627) CTCCAGAGATCCTGGTTCTTG 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 189 194 192 NA NA NA 12 NA NA 123186699 2203 4300 6503 SO:0001624 3_prime_UTR_variant AY148884 CCDS9235.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000182782 ENSG00000182782 338442 GPCR / Class A : Hydroxy-carboxylic acid receptors 24827 protein-coding gene gene with protein product niacin receptor 1 609163 G protein-coupled receptor 109A GPR109A NA 21167710, 12522134, 12646212, 19141678, 18983141, 21454438 Standard NM_177551 NM_177551 NA Approved HCA2, HM74A, PUMAG, Puma-g, NIACR1 uc001ucx.1 Q8TDS4 OTTHUMG00000162722 ENST00000328880.5:c.*40G>C chr12.hg19:g.123186699C>G NA A0PJL5|A7LGG3 hg19 CCDS9235.1 0.02 27.834284 GATxCTG COVERED . . . . . . . . . . C 8.516 0.867717 0.17250 . . ENSG00000182782 ENST00000536970 . . . 5.42 1.37 0.22104 . . . . . T 0.23210 0.0561 . . . 0.09310 N 1 . . . . . . T 0.26710 -1.0095 5 0.21540 T 0.41 . 5.7866 0.18336 0.0:0.5292:0.3016:0.1692 . . . . A 376 . ENSP00000443556:G376A G - 2 0 HCAR2 121752652 0.000000 0.05858 0.000000 0.03702 0.019000 0.09904 0.178000 0.16820 0.037000 0.15575 0.563000 0.77884 GGA NOVEL HCAR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370202.1 6 13.074196 KEEP 6 1 33 55 1855 CC 1 1 0 - 20 40 758 0 0 46.877192 608 60 21225 799 ENST00000328880.5 0.031847 1 PITPNM2 57605 __UNKNOWN__ __UNKNOWN__ 12 123495294 123495294 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:123495294C>T ENST00000542749.1 - 4 479 PITPNM2_ENST00000546049.1_Intron|PITPNM2_ENST00000320201.4_Intron|PITPNM2_ENST00000451868.2_Intron|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Intron Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 NA NA metabolic process (GO:0008152)|transport (GO:0006810) integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231) calcium ion binding (GO:0005509)|lipid binding (GO:0008289) NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GGAGACCGGACAGTTCCCTGA 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF334585 CCDS9242.1, CCDS73543.1 12q24.31 2008-02-05 ENSG00000090975 57605 21044 protein-coding gene gene with protein product 608920 NA 10022914 Standard NM_020845 XM_005253582 NA Approved RDGBA2, RDGB2, NIR3 uc001uej.1 Q9BZ72 ENST00000542749.1:c.416-670G>A chr12.hg19:g.123495294C>T NA Q9P271 hg19 CCDS9242.1 0.02 3.830242 GGAxAGT COVERED NOVEL PITPNM2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401342.1 0 11.675501 KEEP 0 0 0 39 1309 CC 1 0.999991 0 - 37 60 1249 0 0 112.413256 71 60 2554 186 ENST00000542749.1 0.342593 0.999991 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123879666 123879666 __UNKNOWN__ Missense_Mutation SNP A A G rs61955119 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:123879666A>G ENST00000402868.3 + 4 788 c.362A>G c.(361-363)aAa>aGa p.K121R SETD8_ENST00000330479.4_Missense_Mutation_p.K121R|SETD8_ENST00000478781.2_3'UTR Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 162 NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) GACGCCAGGAAAGGTCCCCTG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 43 42 42 NA NA NA 12 NA NA 123879666 2203 4299 6502 SO:0001583 missense AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.362A>G chr12.hg19:g.123879666A>G ENSP00000384629:p.Lys121Arg NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 9.080147 GGAxAGG COVERED . . . . . . . . . . G 5.623 0.299645 0.10622 . . ENSG00000183955 ENST00000402868;ENST00000330479;ENST00000437502 D;D 0.98135 -4.74;-4.74 5.57 4.68 0.58851 . 0.449979 0.25138 N 0.032848 D 0.87521 0.6198 N 0.00436 -1.5 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.79548 -0.1758 10 0.22109 T 0.4 -18.1838 8.9091 0.35541 0.227:0.0:0.773:0.0 rs61955119 162;121 Q9NQR1;Q9NQR1-2 SETD8_HUMAN;. R 121;121;112 ENSP00000384629:K121R;ENSP00000332995:K121R ENSP00000332995:K121R K + 2 0 SETD8 122445619 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 1.905000 0.39878 0.751000 0.32900 -0.355000 0.07637 AAA NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 18 5.257083 KEEP 1 5 179 80 2234 AA 1 1 0 + 73 60 2676 0 0 240.012926 157 60 5401 430 ENST00000402868.3 0.317391 1 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123879668 123879668 __UNKNOWN__ Missense_Mutation SNP G G C rs61955120 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:123879668G>C ENST00000402868.3 + 4 790 c.364G>C c.(364-366)Ggt>Cgt p.G122R SETD8_ENST00000330479.4_Missense_Mutation_p.G122R|SETD8_ENST00000478781.2_3'UTR Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 163 NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) CGCCAGGAAAGGTCCCCTGGT 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 43 42 43 NA NA NA 12 NA NA 123879668 2203 4299 6502 SO:0001583 missense AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.364G>C chr12.hg19:g.123879668G>C ENSP00000384629:p.Gly122Arg NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 8.70745 AAAxGTC COVERED . . . . . . . . . . G 16.36 3.100201 0.56183 . . ENSG00000183955 ENST00000402868;ENST00000330479;ENST00000437502 D;D 0.98437 -4.93;-4.93 5.57 5.57 0.84162 . 0.436998 0.23989 N 0.042599 D 0.95940 0.8678 L 0.44542 1.39 0.37022 D 0.896266 P;P 0.49090 0.893;0.919 B;P 0.45506 0.416;0.483 D 0.94819 0.7985 10 0.09084 T 0.74 -8.6264 11.5132 0.50504 0.089:0.0:0.911:0.0 rs61955120 163;122 Q9NQR1;Q9NQR1-2 SETD8_HUMAN;. R 122;122;113 ENSP00000384629:G122R;ENSP00000332995:G122R ENSP00000332995:G122R G + 1 0 SETD8 122445621 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 2.544000 0.45761 2.642000 0.89623 0.462000 0.41574 GGT NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 18 5.593465 KEEP 1 5 173 79 2639 GG 1 1 0 + 71 60 2442 0 0 216.99449 155 60 5468 421 ENST00000402868.3 0.314159 1 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123892590 123892590 __UNKNOWN__ 3'UTR SNP C C T rs61953480 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:123892590C>T ENST00000402868.3 + 0 1825 SETD8_ENST00000330479.4_3'UTR Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 NA NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) ACTAGGAAGCCAGGTGAGTCT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.*340C>T chr12.hg19:g.123892590C>T NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 17.615693 AGCxAGG COVERED NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 4 5.892717 KEEP 33 8 240 104 3523 CC 1 1 0 + 173 40 5646 0 0 514.830285 287 60 10338 724 ENST00000402868.3 0.376087 1 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123892646 123892646 __UNKNOWN__ 3'UTR SNP C C A rs80048501 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:123892646C>A ENST00000402868.3 + 0 1881 SETD8_ENST00000330479.4_3'UTR Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 NA NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) GCACCCCCGACATCCAGGGAC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.*396C>A chr12.hg19:g.123892646C>A NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 14.798276 CGAxATC COVERED NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 2 8.237077 KEEP 12 5 152 81 2764 CC 1 1 0 + 54 48 1720 0 0 138.016175 228 60 8113 556 ENST00000402868.3 0.191489 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 124086641 124086641 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:124086641G>C NA NA TMED2 (3525 upstream) : DDX55 (4 downstream) NA NA NA GTGCTCGTTGGGGGTGCACAA 0.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr12.hg19:g.124086641G>C NA hg19 0.02 2.223283 TTGxGGG COVERED NOVEL 0 0 3.00983 KEEP 0 0 0 10 354 GG 0.992708 0.966863 0 18 60 624 0 0 56.246115 35 60 1208 79 0.339623 0.973965 GPR133 283383 __UNKNOWN__ __UNKNOWN__ 12 131478783 131478783 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:131478783G>A ENST00000535015.1 + 9 1092 GPR133_ENST00000261654.5_Intron Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) AGGACCGGGCGTGAGGCCCCG 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY278561 CCDS9272.1 12q24.33 2014-08-08 ENSG00000111452 ENSG00000111452 283383 -, GPCR / Class B : Orphans 19893 protein-coding gene gene with protein product 613639 NA Standard NM_198827 NM_198827 NA Approved DKFZp434B1272, PGR25 uc001uit.4 Q6QNK2 OTTHUMG00000168339 ENST00000535015.1:c.1062+1846G>A chr12.hg19:g.131478783G>A NA B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4 hg19 0.02 3.901056 GGCxTGA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 1.749|1.749 -0.489841|-0.489841 0.04322|0.04322 .|. .|. ENSG00000111452|ENSG00000111452 ENST00000544673|ENST00000545900 .|. .|. .|. 0.773|0.773 0.773|0.773 0.18516|0.18516 .|. .|. .|. .|. .|. T|T 0.38241|0.38241 0.1033|0.1033 .|. .|. .|. 0.09310|0.09310 N|N 0.999999|0.999999 .|. .|. .|. .|. .|. .|. T|T 0.37731|0.37731 -0.9693|-0.9693 5|5 0.66056|0.87932 D|D 0.02|0 .|. 4.823|4.823 0.13400|0.13400 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|. .|. .|. H|M 6|9 .|. ENSP00000443158:R6H|ENSP00000446272:V9M R|V +|+ 2|1 0|0 GPR133|GPR133 130044736|130044736 0.018000|0.018000 0.18449|0.18449 0.013000|0.013000 0.15412|0.15412 0.006000|0.006000 0.05464|0.05464 1.254000|1.254000 0.32897|0.32897 0.680000|0.680000 0.31366|0.31366 0.313000|0.313000 0.20887|0.20887 CGT|GTG NOVEL GPR133-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399359.1 0 9.027884 KEEP 0 0 0 30 988 GG 0.999997 0.999997 0 + 54 60 1864 0 0 172.91349 80 60 2600 207 ENST00000535015.1 0.402985 1 ANKLE2 23141 __UNKNOWN__ __UNKNOWN__ 12 133309010 133309010 __UNKNOWN__ Intron SNP G G A rs377038350 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:133309010G>A ENST00000357997.5 - 10 1981 ANKLE2_ENST00000539605.1_Intron|ANKLE2_ENST00000542374.1_Intron NM_015114.1 NP_055929.1 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 NA NA mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020) protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601) NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) AGCTCTCTGCGTCCTGGTGTC 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014592 CCDS41869.1 12q24.33 2013-01-11 2008-03-25 2008-03-25 ENSG00000176915 ENSG00000176915 23141 Ankyrin repeat domain containing 29101 protein-coding gene gene with protein product LEM domain containing 7 NA KIAA0692 KIAA0692 NA 9734811 Standard XM_005266159 NA Approved LEMD7, Lem4 uc001ukx.2 Q86XL3 OTTHUMG00000168046 ENST00000357997.5:c.1891+1960C>T chr12.hg19:g.133309010G>A NA A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4 hg19 CCDS41869.1 0.02 5.124609 TGCxTCC COVERED NOVEL ANKLE2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397712.1 8 10.531175 KEEP 2 0 0 35 1139 GG 0.999999 0.999999 0 - 8 40 249 0 0 14.39274 180 60 5921 297 ENST00000357997.5 0.042553 1 ANKLE2 23141 __UNKNOWN__ __UNKNOWN__ 12 133335560 133335560 __UNKNOWN__ Intron SNP C C T rs201114705 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:133335560C>T ENST00000357997.5 - 1 271 ANKLE2_ENST00000337516.5_Intron|ANKLE2_ENST00000539605.1_5'UTR NM_015114.1 NP_055929.1 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 NA NA mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020) protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601) NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) ACCCACGTGGCAGAGAGGATC 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014592 CCDS41869.1 12q24.33 2013-01-11 2008-03-25 2008-03-25 ENSG00000176915 ENSG00000176915 23141 Ankyrin repeat domain containing 29101 protein-coding gene gene with protein product LEM domain containing 7 NA KIAA0692 KIAA0692 NA 9734811 Standard XM_005266159 NA Approved LEMD7, Lem4 uc001ukx.2 Q86XL3 OTTHUMG00000168046 ENST00000357997.5:c.181+2643G>A chr12.hg19:g.133335560C>T NA A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4 hg19 CCDS41869.1 0.02 3.478901 TGGxAGA COVERED NOVEL ANKLE2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397712.1 2 12.874566 KEEP 15 1 20 50 1703 CC 1 0.999997 0 - 10 60 287 0 0 20.297092 72 60 2604 231 ENST00000357997.5 0.121951 0.999997 ANKLE2 23141 __UNKNOWN__ __UNKNOWN__ 12 133335565 133335565 __UNKNOWN__ Intron SNP A A T rs11147052 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:133335565A>T ENST00000357997.5 - 1 271 ANKLE2_ENST00000337516.5_Intron|ANKLE2_ENST00000539605.1_5'UTR NM_015114.1 NP_055929.1 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 NA NA mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020) protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601) NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CGTGGCAGAGAGGATCGCTGC 0.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014592 CCDS41869.1 12q24.33 2013-01-11 2008-03-25 2008-03-25 ENSG00000176915 ENSG00000176915 23141 Ankyrin repeat domain containing 29101 protein-coding gene gene with protein product LEM domain containing 7 NA KIAA0692 KIAA0692 NA 9734811 Standard XM_005266159 NA Approved LEMD7, Lem4 uc001ukx.2 Q86XL3 OTTHUMG00000168046 ENST00000357997.5:c.181+2638T>A chr12.hg19:g.133335565A>T NA A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4 hg19 CCDS41869.1 0.02 2.833589 GAGxGGA COVERED NOVEL ANKLE2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397712.1 2 6.214053 KEEP 12 3 80 49 1444 AA 1 1 0 - 6 28 181 0 0 11.041046 97 60 3421 246 ENST00000357997.5 0.058252 1 ANKLE2 23141 __UNKNOWN__ __UNKNOWN__ 12 133335588 133335588 __UNKNOWN__ Intron SNP C C T rs11147053 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:133335588C>T ENST00000357997.5 - 1 271 ANKLE2_ENST00000337516.5_Intron|ANKLE2_ENST00000539605.1_5'UTR NM_015114.1 NP_055929.1 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 NA NA mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020) protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601) NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) AGTGGCACCCCGGGGCACCCA 0.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014592 CCDS41869.1 12q24.33 2013-01-11 2008-03-25 2008-03-25 ENSG00000176915 ENSG00000176915 23141 Ankyrin repeat domain containing 29101 protein-coding gene gene with protein product LEM domain containing 7 NA KIAA0692 KIAA0692 NA 9734811 Standard XM_005266159 NA Approved LEMD7, Lem4 uc001ukx.2 Q86XL3 OTTHUMG00000168046 ENST00000357997.5:c.181+2615G>A chr12.hg19:g.133335588C>T NA A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4 hg19 CCDS41869.1 0.02 3.731661 CCCxGGG COVERED NOVEL ANKLE2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397712.1 1 2.858845 KEEP 22 4 76 37 1140 CC 1 1 0 - 17 60 547 0 0 41.83048 99 60 3126 285 ENST00000357997.5 0.146552 1 ANKLE2 23141 __UNKNOWN__ __UNKNOWN__ 12 133335673 133335673 __UNKNOWN__ Intron SNP C C T rs11147055 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr12:133335673C>T ENST00000357997.5 - 1 271 ANKLE2_ENST00000337516.5_Intron|ANKLE2_ENST00000539605.1_De_novo_Start_OutOfFrame NM_015114.1 NP_055929.1 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 NA NA mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020) protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601) NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CGGAGTGGCACCCCGGGGCAC 0.726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014592 CCDS41869.1 12q24.33 2013-01-11 2008-03-25 2008-03-25 ENSG00000176915 ENSG00000176915 23141 Ankyrin repeat domain containing 29101 protein-coding gene gene with protein product LEM domain containing 7 NA KIAA0692 KIAA0692 NA 9734811 Standard XM_005266159 NA Approved LEMD7, Lem4 uc001ukx.2 Q86XL3 OTTHUMG00000168046 ENST00000357997.5:c.181+2530G>A chr12.hg19:g.133335673C>T NA A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4 hg19 CCDS41869.1 0.02 5.160289 GCAxCCC COVERED NOVEL ANKLE2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397712.1 6 9.603858 KEEP 24 0 0 32 1048 CC 0.999988 0.999988 0 - 10 35 338 0 0 22.208662 155 60 5071 284 ENST00000357997.5 0.060606 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19048747 19048747 __UNKNOWN__ IGR SNP G G T rs111402467 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:19048747G>T NA NA None (None upstream) : LINC00349 (65889 downstream) NA NA NA ggtgtgctgagatcgctgcac 0.488 NA NA G||| 931 0.185903 0.0726 0.2219 5008 , , NA 18737 0.2183 NA 0.1581 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr13.hg19:g.19048747G>T NA hg19 0.02 -0.026319 TGAxATC UNCOVERED NOVEL 0 4 2.407931 KEEP 1 0 0 8 287 GG 0 0 0 2 60 68 0 0 6.924723 1 40 36 16 0.666667 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19385628 19385628 __UNKNOWN__ IGR SNP T T A rs199539767 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:19385628T>A NA NA LINC00418 (91759 upstream) : RP11-38M15.11 (48338 downstream) NA NA NA aagaaaataatcatctggcaa 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr13.hg19:g.19385628T>A NA hg19 0.02 10.257761 TAAxCAT COVERED NOVEL 0 12 2.277201 KEEP 30 2 70 32 1007 TT 0.999997 0.999997 0 20 45 704 0 0 48.566297 263 50 9318 522 0.070671 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19778601 19778601 __UNKNOWN__ IGR SNP G G A rs141790008 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:19778601G>A NA NA RP11-408E5.4 (17105 upstream) : RP11-408E5.5 (58335 downstream) NA NA NA ATTCATACCCGTCATTGGAGG 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr13.hg19:g.19778601G>A NA hg19 0.02 6.096277 CCCxTCA COVERED NOVEL 0 7 3.008786 KEEP 50 0 0 10 321 GG 0.992708 0.992708 0 38 40 1322 0 0 112.841901 117 50 4153 268 0.245161 1 TPTE2 93492 __UNKNOWN__ __UNKNOWN__ 13 20000598 20000598 __UNKNOWN__ Silent SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:20000598C>G ENST00000382978.1 - 17 1284 c.1242G>C c.(1240-1242)ctG>ctC p.L414L TPTE2_ENST00000255310.6_Silent_p.L377L|TPTE2_ENST00000382975.4_Silent_p.L414L|TPTE2_ENST00000390680.2_Silent_p.L377L|TPTE2_ENST00000457266.2_Silent_p.L343L|TPTE2_ENST00000400230.2_Silent_p.L454L|TPTE2_ENST00000400103.2_Silent_p.L343L|TPTE2_ENST00000382977.4_Silent_p.L454L Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 454 C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}. NA phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CATCATCATACAGAGGTGGAC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 127 121 123 NA NA NA 13 NA NA 20000598 2203 4300 6503 SO:0001819 synonymous_variant AJ421032 CCDS9285.1, CCDS45013.1, CCDS45014.1 13q12.11 2012-12-10 ENSG00000132958 ENSG00000132958 93492 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs 17299 protein-coding gene gene with protein product 606791 NA 11716755, 12717346, 15057823 Standard NM_199254 NM_130785 NA Approved TPIP uc001umd.3 Q6XPS3 OTTHUMG00000016493 ENST00000382978.1:c.1242G>C chr13.hg19:g.20000598C>G NA A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5 hg19 0.02 27.410211 ATAxAGA COVERED NOVEL TPTE2-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000044022.1 2 2.515901 KEEP 8 3 105 45 1582 CC 1 1 0 - 27 60 1006 0 0 65.799611 567 60 20731 857 ENST00000382978.1 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 20371515 20371515 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:20371515C>T NA NA PSPC1 (14458 upstream) : ZMYM5 (26108 downstream) NA NA NA caggagaatcccttgaacaga 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr13.hg19:g.20371515C>T NA hg19 0.02 -0.2895 ATCxCTT COVERED NOVEL 0 5 3.912656 KEEP 0 0 0 13 449 CC 0.994391 0.756619 0 3 60 94 0 0 7.092866 18 60 642 52 0.142857 0.760887 ESRRAP2 144832 __UNKNOWN__ __UNKNOWN__ 13 21835405 21835405 __UNKNOWN__ RNA SNP C C T rs373343916 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:21835405C>T ENST00000427890.1 + 0 61 estrogen-related receptor alpha pseudogene 2 NA NA NA GCTGCAGTCCCTGCGGCTGGA 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U85258 13q12.11 2011-03-15 ENSG00000235438 ENSG00000235438 144832 24647 pseudogene pseudogene NA NA 9344655, 3267207, 18065488 Standard NR_000033 NG_007350 NA Approved ESTRRA OTTHUMG00000016534 ENST00000427890.1: chr13.hg19:g.21835405C>T NA hg19 0.02 1.786544 TCCxTGC UNCOVERED NOVEL ESRRAP2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000471193.1 0 3.009528 KEEP 23 0 0 10 340 CC 0 0 0 + 5 27 165 0 0 10.853875 72 60 2558 133 ENST00000427890.1 0.064935 0.999317 PARP4 143 __UNKNOWN__ __UNKNOWN__ 13 25052393 25052393 __UNKNOWN__ Missense_Mutation SNP G G T rs79107024 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:25052393G>T ENST00000381989.3 - 13 1575 c.1470C>A c.(1468-1470)caC>caA p.H490Q NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 490 PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}. NA cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950) p.H490Q(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TCTCTCCCGGGTGTGAGTACT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) lung(1) 106 86 92 NA NA NA 13 NA NA 25052393 2203 4300 6503 SO:0001583 missense AF057160 CCDS9307.1 13q11 2010-09-29 2004-08-20 2004-08-26 ENSG00000102699 ENSG00000102699 143 Poly (ADP-ribose) polymerases 271 protein-coding gene gene with protein product von Willebrand factor A domain containing 5C 607519 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 ADPRTL1 NA 10644454 Standard NM_006437 NM_006437 NA Approved VAULT3, p193, VPARP, VWA5C uc001upl.3 Q9UKK3 OTTHUMG00000016582 ENST00000381989.3:c.1470C>A chr13.hg19:g.25052393G>T ENSP00000371419:p.His490Gln NA O75903|Q14682|Q5QNZ9|Q9H1M6 hg19 CCDS9307.1 0.02 7.810154 CGGxTGT COVERED 285 0.1304945054945055 99 0.20121951219512196 44 0.12154696132596685 36 0.06293706293706294 106 0.13984168865435356 G 3.333 -0.136204 0.06711 . . ENSG00000102699 ENST00000381989 T 0.13420 2.59 3.91 -0.744 0.11101 Poly(ADP-ribose) polymerase, catalytic domain (2); 0.898333 0.09533 N 0.789209 T 0.00012 0.0000 L 0.60067 1.865 0.24090 N 0.995918 B 0.14805 0.011 B 0.13407 0.009 T 0.44314 -0.9336 10 0.16896 T 0.51 -1.9083 3.6715 0.08276 0.2177:0.0:0.3285:0.4537 . 490 Q9UKK3 PARP4_HUMAN Q 490 ENSP00000371419:H490Q ENSP00000371419:H490Q H - 3 2 PARP4 23950393 0.588000 0.26799 0.018000 0.16275 0.865000 0.49528 -0.111000 0.10807 -0.008000 0.14320 0.644000 0.83932 CAC NOVEL PARP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044189.1 0 3.912634 KEEP 3 0 0 13 459 GG 0.994391 0.994391 0 - 12 60 377 0 0 23.135284 215 60 7637 307 ENST00000381989.3 0.052863 1 PARP4 143 __UNKNOWN__ __UNKNOWN__ 13 25052423 25052423 __UNKNOWN__ Intron SNP G G A rs200378131 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:25052423G>A ENST00000381989.3 - 13 1554 NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 NA NA cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TACTACATGCGAAAGGAAATA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 75 63 67 NA NA NA 13 NA NA 25052423 2203 4300 6503 SO:0001627 intron_variant AF057160 CCDS9307.1 13q11 2010-09-29 2004-08-20 2004-08-26 ENSG00000102699 ENSG00000102699 143 Poly (ADP-ribose) polymerases 271 protein-coding gene gene with protein product von Willebrand factor A domain containing 5C 607519 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 ADPRTL1 NA 10644454 Standard NM_006437 NM_006437 NA Approved VAULT3, p193, VPARP, VWA5C uc001upl.3 Q9UKK3 OTTHUMG00000016582 ENST00000381989.3:c.1449-9C>T chr13.hg19:g.25052423G>A NA O75903|Q14682|Q5QNZ9|Q9H1M6 hg19 CCDS9307.1 0.02 5.841849 TGCxAAA COVERED NOVEL PARP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044189.1 0 3.009639 KEEP 3 0 0 10 337 GG 0.992708 0.992708 0 - 13 60 465 0 0 32.338345 170 60 5981 237 ENST00000381989.3 0.071038 1 RP11-556N21.1 0 __UNKNOWN__ __UNKNOWN__ 13 25168432 25168432 __UNKNOWN__ RNA SNP T T C rs201252723 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TPTE2P6_ENST00000440905.1_RNA NA NA NA TTGAAACAGCTGGTGTATTAA 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000453498.1: chr13.hg19:g.25168432T>C NA hg19 0.02 8.442739 AGCxGGT COVERED NOVEL RP11-556N21.1-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000044193.1 2 3.910962 KEEP 1 0 0 13 394 TT 0.994391 0.994391 0 + 11 27 396 0 0 25.736072 216 60 7794 291 ENST00000453498.1 0.048458 1 RP11-556N21.1 0 __UNKNOWN__ __UNKNOWN__ 13 25168489 25168489 __UNKNOWN__ RNA SNP G G A rs200109937 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:25168489G>A ENST00000453498.1 + 0 1161 TPTE2P6_ENST00000440905.1_RNA NA NA NA TGAAAGTGCAGTTTTTCTCTT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000453498.1: chr13.hg19:g.25168489G>A NA hg19 0.02 9.154284 GCAxTTT COVERED NOVEL RP11-556N21.1-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000044193.1 4 5.417795 KEEP 4 0 0 18 645 GG 0.999859 0.999859 0 + 12 47 398 0 0 23.978725 271 60 9930 389 ENST00000453498.1 0.042403 1 PABPC3 5042 __UNKNOWN__ __UNKNOWN__ 13 25673088 25673088 __UNKNOWN__ 3'UTR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:25673088T>C ENST00000281589.3 + 0 2789 NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 NA NA mRNA metabolic process (GO:0016071) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) catagttatttcttggtttat 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132026 CCDS9311.1 13q12-q13 2013-02-12 2001-11-28 ENSG00000151846 ENSG00000151846 5042 RNA binding motif (RRM) containing 8556 protein-coding gene gene with protein product testis PABP 604680 poly(A)-binding protein, cytoplasmic 3 PABPL3 NA 8432538, 10543404 Standard NM_030979 NM_030979 NA Approved PABP3, tPABP uc001upy.3 Q9H361 OTTHUMG00000016601 ENST00000281589.3:c.*856T>C chr13.hg19:g.25673088T>C NA Q8NHV0|Q9H086 hg19 CCDS9311.1 0.02 10.396193 ATTxCTT COVERED NOVEL PABPC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044220.2 1 8.725749 KEEP 0 0 0 29 897 TT 0.999997 0.999997 0 + 68 60 2368 0 0 200.659568 222 60 7656 361 ENST00000281589.3 0.234483 1 BRCA2 675 __UNKNOWN__ __UNKNOWN__ 13 32890400 32890400 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:32890400C>A ENST00000380152.3 + 2 194 BRCA2_ENST00000544455.1_Intron P51587 BRCA2_HUMAN breast cancer 2, early onset NA NA brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283) BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141) gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) gacagcacagctgtaaaatgt 0.443 NA NA D, Mis, N, F, S breast, ovarian, pancreatic breast, ovarian, pancreatic, leukemia (FANCB, FANCD1) Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) yes Rec yes Hereditary breast/ovarian cancer 13 13q12 675 familial breast/ovarian cancer gene 2 L, E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups) U43746 CCDS9344.1 13q12-q13 2014-09-17 2003-10-14 ENSG00000139618 ENSG00000139618 675 Fanconi anemia, complementation groups 1101 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 2 600185 Fanconi anemia, complementation group D1 FANCD1, FACD, FANCD NA 8091231, 7581463, 15057823 Standard NM_000059 NM_000059 NA Approved FAD, FAD1, BRCC2 uc001uub.1 P51587 OTTHUMG00000017411 ENST00000380152.3:c.-39-159C>A chr13.hg19:g.32890400C>A NA O00183|O15008|Q13879|Q5TBJ7 hg19 CCDS9344.1 0.02 1.87022 CAGxTGT COVERED NOVEL BRCA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046000.2 0 3.003646 KEEP 0 0 0 10 267 CC 0.992708 0.992708 0 + 20 60 260 0 0 10.767826 134 60 2691 174 ENST00000380152.3 0.12987 1 SETDB2 83852 __UNKNOWN__ __UNKNOWN__ 13 50057736 50057736 __UNKNOWN__ Intron SNP C C T rs374266519 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:50057736C>T ENST00000317257.8 + 11 2343 SETDB2_ENST00000258672.5_Intron|SETDB2_ENST00000354234.4_Intron NM_031915.2 NP_114121.2 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 NA NA chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892) chromosome (GO:0005694)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) CCCTTCTTTTCTTTTTTAAAt 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 12 12 12 NA NA NA 13 NA NA 50057736 2187 4248 6435 SO:0001627 intron_variant AF334407 CCDS9417.1, CCDS53868.1 13q14 2011-07-01 2003-05-06 2003-05-09 ENSG00000136169 ENSG00000136169 83852 Chromatin-modifying enzymes / K-methyltransferases 20263 protein-coding gene gene with protein product 607865 chromosome 13 open reading frame 4 C13orf4 NA 11306461 Standard NM_031915 NM_031915 NA Approved CLLD8, CLLL8, KMT1F uc001vda.3 Q96T68 OTTHUMG00000016918 ENST00000317257.8:c.1518+37C>T chr13.hg19:g.50057736C>T NA Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6 hg19 CCDS9417.1 0.02 -0.408426 TTTxTTT COVERED NOVEL SETDB2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000044925.1 11 3.039828 KEEP 0 1 19 17 515 CC 0.999859 0.941609 0 + 10 60 187 0 0 13.18208 35 60 1078 88 ENST00000317257.8 0.222222 0.941741 DIS3 22894 __UNKNOWN__ __UNKNOWN__ 13 73340232 73340232 __UNKNOWN__ Intron SNP C C A rs375283876 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:73340232C>A ENST00000377780.4 - 15 1886 DIS3_ENST00000545453.1_Intron|DIS3_ENST00000377767.4_Intron NM_001128226.1 NP_001121698.1 Q9Y2L1 RRP44_HUMAN DIS3 exosome endoribonuclease and 3'-5' exoribonuclease NA NA CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364) cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) 3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TATAGTCAAGCAAGCCAATAA 0.343 NA NA Multiple Myeloma(4;0.011) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 12 14 14 NA NA NA 13 NA NA 73340232 2172 4287 6459 SO:0001627 intron_variant AB023225 CCDS9447.1, CCDS45057.1 13q21.32 2014-03-05 2014-03-05 2007-01-12 ENSG00000083520 ENSG00000083520 22894 20604 protein-coding gene gene with protein product exosome component 11 607533 KIAA1008, DIS3 mitotic control homolog (S. cerevisiae) KIAA1008 NA 11935316, 9562621 Standard NM_014953 XM_005266294 NA Approved dis3p, RRP44, EXOSC11 uc001vix.4 Q9Y2L1 OTTHUMG00000017070 ENST00000377780.4:c.1794-36G>T chr13.hg19:g.73340232C>A NA A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36 hg19 CCDS45057.1 0.02 4.719821 AAGxAAG COVERED NOVEL DIS3-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000045251.1 1 6.065906 KEEP 0 2 41 35 1012 CC 1 1 0 - 16 60 296 0 0 14.908876 151 60 4012 248 ENST00000377780.4 0.095808 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 73689348 73689348 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:73689348G>A NA NA RNU6-66P (2193 upstream) : AL354720.1 (9500 downstream) NA NA NA AATTTTTATTGCAGTAGGAGG 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr13.hg19:g.73689348G>A NA hg19 0.02 5.800624 ATTxCAG COVERED NOVEL 0 0 6.320714 KEEP 3 0 0 21 745 GG 0.999869 0.999869 0 33 60 1097 0 0 89.40169 134 60 4856 223 0.197605 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 80383037 80383037 __UNKNOWN__ IGR SNP T T C rs9545203 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:80383037T>C NA NA LINC01038 (3217 upstream) : LINC00382 (63683 downstream) NA NA NA cccatAaccatagcaaaggta 0.438 NA NA T||| 1539 0.307308 0.208 0.2781 5008 , , NA 22932 0.1776 NA 0.4294 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr13.hg19:g.80383037T>C NA hg19 0.02 -0.403195 CCAxAGC COVERED NOVEL 0 0 2.407246 KEEP 0 0 0 8 246 TT 0.99257 0.927549 0 40 60 1432 0 0 155.418194 5 60 167 66 0.888889 0.934492 ITGBL1 9358 __UNKNOWN__ __UNKNOWN__ 13 102235755 102235755 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:102235755G>T ENST00000376180.3 + 6 1087 ITGBL1_ENST00000376162.3_Intron|ITGBL1_ENST00000545560.2_Intron NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) NA NA cell adhesion (GO:0007155) extracellular region (GO:0005576) breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ggtggggcttgttaatgggta 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 77 79 78 NA NA NA 13 NA NA 102235755 2203 4300 6503 SO:0001627 intron_variant AF072752 CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1 13q33 2008-07-18 ENSG00000198542 ENSG00000198542 9358 6164 protein-coding gene gene with protein product ten integrin EGF-like repeat domains protein, ITGBL1, integrin beta-like 1 604234 NA 10051402 Standard NM_004791 NM_004791 NA Approved TIED, OSCP uc001vpb.4 O95965 OTTHUMG00000017296 ENST00000376180.3:c.868+49G>T chr13.hg19:g.102235755G>T NA A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0 hg19 CCDS9499.1 0.02 1.252297 CTTxTTA COVERED NOVEL ITGBL1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045669.2 1 3.549465 KEEP 0 0 0 12 386 GG 0.994391 0.99407 0 + 8 70 181 0 0 10.691151 76 60 2341 118 ENST00000376180.3 0.095238 0.999678 COL4A1 1282 __UNKNOWN__ __UNKNOWN__ 13 110913163 110913163 __UNKNOWN__ Intron SNP G G A rs7320799 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:110913163G>A ENST00000375820.4 - 2 206 COL4A1_ENST00000543140.1_Intron NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 NA NA axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304) basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) ttgggaggccgaggcaggcag 0.537 NA NA G||| 2861 0.571286 0.7383 0.5115 5008 , , NA 15571 0.6567 NA 0.4205 False NA ,,, NA NA NA 2504 0.455 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J04217 CCDS9511.1 13q34 2013-09-05 ENSG00000187498 ENSG00000187498 1282 Collagens 2202 protein-coding gene gene with protein product 120130 NA 3691802 Standard NM_001845 NA Approved uc001vqw.4 P02462 OTTHUMG00000017342 ENST00000375820.4:c.85-18082C>T chr13.hg19:g.110913163G>A NA A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5 hg19 CCDS9511.1 0.02 -0.026316 GCCxAGG UNCOVERED NOVEL COL4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045759.3 1 2.407744 KEEP 0 0 0 8 272 GG 0.99257 0 0 - 3 60 100 0 0 11.430451 0 0 0 14 ENST00000375820.4 1 0 ING1 3621 __UNKNOWN__ __UNKNOWN__ 13 111371444 111371444 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:111371444T>G ENST00000333219.7 + 2 1008 ING1_ENST00000464141.1_Intron|ING1_ENST00000375774.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron NM_001267728.1|NM_198219.2 NP_001254657.1|NP_937862.1 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 NA NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941) nucleus (GO:0005634) methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) CTGTGGCTGGTGGGCTTTGTT 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1 13q34 2013-01-28 ENSG00000153487 ENSG00000153487 3621 Zinc fingers, PHD-type 6062 protein-coding gene gene with protein product inhibitor of growth 1, tumor suppressor ING1, growth inhibitor ING1, growth inhibitory protein ING1 601566 NA 8944021, 9186514 Standard NM_005537 NM_198219 NA Approved p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a uc001vri.3 Q9UK53 OTTHUMG00000017346 ENST00000333219.7:c.137-132T>G chr13.hg19:g.111371444T>G NA O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52 hg19 CCDS9516.1 0.02 2.971634 TGGxGGG COVERED NOVEL ING1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045767.1 0 5.69744 KEEP 0 0 0 19 447 TT 0.99986 0.999857 0 + 16 60 242 0 0 12.29535 100 60 2724 157 ENST00000333219.7 0.137931 0.999998 TFDP1 7027 __UNKNOWN__ __UNKNOWN__ 13 114277504 114277504 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:114277504C>G ENST00000375370.5 + 4 301 c.89C>G c.(88-90)tCc>tGc p.S30C TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000538138.1_5'UTR NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 30 NA anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) GGCGTGGTGTCCCTCGTGGCC 0.537 NA NA TSP Lung(29;0.18) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 113 87 96 NA NA NA 13 NA NA 114277504 2203 4300 6503 SO:0001583 missense BC011685 CCDS9538.1 13q34 2008-07-18 ENSG00000198176 ENSG00000198176 7027 11749 protein-coding gene gene with protein product 189902 NA 8413592, 9027491 Standard NM_007111 NM_007111 NA Approved Dp-1, DRTF1, DP1 uc001vtw.3 Q14186 OTTHUMG00000017388 ENST00000375370.5:c.89C>G chr13.hg19:g.114277504C>G ENSP00000364519:p.Ser30Cys NA B4DLQ9|Q5JSB4|Q8IZL5 hg19 CCDS9538.1 0.02 9.073872 TGTxCCT COVERED . . . . . . . . . . C 14.50 2.555355 0.45487 . . ENSG00000198176 ENST00000375370;ENST00000408980;ENST00000453989 T;T;T 0.35236 1.73;1.32;1.32 4.65 4.65 0.58169 . 0.116787 0.64402 D 0.000015 T 0.59528 0.2200 M 0.66939 2.045 0.80722 D 1 D;D;D 0.76494 0.999;0.999;0.999 D;D;P 0.80764 0.994;0.993;0.887 T 0.64816 -0.6318 10 0.72032 D 0.01 . 17.5431 0.87853 0.0:1.0:0.0:0.0 . 30;30;30 Q5JSB5;Q5JSB6;Q14186 .;.;TFDP1_HUMAN C 30 ENSP00000364519:S30C;ENSP00000386145:S30C;ENSP00000401389:S30C ENSP00000364519:S30C S + 2 0 TFDP1 113325505 1.000000 0.71417 0.777000 0.31699 0.148000 0.21650 4.686000 0.61700 2.125000 0.65367 0.491000 0.48974 TCC NOVEL TFDP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045918.3 1 9.027538 KEEP 0 0 0 30 966 CC 0.999997 0.999997 0 + 41 60 1454 0 0 119.570956 173 60 6027 260 ENST00000375370.5 0.191589 1 RASA3 22821 __UNKNOWN__ __UNKNOWN__ 13 114839055 114839055 __UNKNOWN__ Intron SNP T T C rs9562109 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:114839055T>C ENST00000334062.7 - 2 295 RASA3_ENST00000389544.4_Intron|RASA3_ENST00000542651.1_Intron NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 NA NA calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) ATTCCCTACATGCGGGAAAAC 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32016.1 13q34 2013-01-10 ENSG00000185989 ENSG00000185989 22821 Pleckstrin homology (PH) domain containing 20331 protein-coding gene gene with protein product 605182 NA 7637787, 9382842 Standard NM_007368 NM_007368 NA Approved GAP1IP4BP, GAPIII uc001vui.3 Q14644 OTTHUMG00000017399 ENST00000334062.7:c.173+139A>G chr13.hg19:g.114839055T>C NA A6NL15|F8W6X8|Q8IUY2 hg19 CCDS32016.1 0.02 1.928175 ACAxGCG COVERED NOVEL RASA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045957.2 0 4.811469 KEEP 0 0 0 16 449 TT 0.997832 0.99778 0 - 7 40 260 0 0 18.394452 91 60 3015 124 ENST00000334062.7 0.071429 0.999948 RASA3 22821 __UNKNOWN__ __UNKNOWN__ 13 114839070 114839070 __UNKNOWN__ Intron SNP T T C rs9562110 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr13:114839070T>C ENST00000334062.7 - 2 295 RASA3_ENST00000389544.4_Intron|RASA3_ENST00000542651.1_Intron NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 NA NA calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) GAAAACGGGATGGTGACGTAC 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32016.1 13q34 2013-01-10 ENSG00000185989 ENSG00000185989 22821 Pleckstrin homology (PH) domain containing 20331 protein-coding gene gene with protein product 605182 NA 7637787, 9382842 Standard NM_007368 NM_007368 NA Approved GAP1IP4BP, GAPIII uc001vui.3 Q14644 OTTHUMG00000017399 ENST00000334062.7:c.173+124A>G chr13.hg19:g.114839070T>C NA A6NL15|F8W6X8|Q8IUY2 hg19 CCDS32016.1 0.02 4.121785 GGAxGGT COVERED NOVEL RASA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045957.2 0 6.314678 KEEP 0 0 0 21 573 TT 0.999869 0.999861 0 - 5 40 172 0 0 10.782598 104 60 3373 145 ENST00000334062.7 0.045872 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19026415 19026415 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:19026415G>C NA NA None (None upstream) : RP11-754I20.1 (83887 downstream) NA NA NA tcaactctgtgagttgaatgc 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.19026415G>C NA hg19 0.02 -0.403574 TGTxAGT COVERED NOVEL 0 24 4.213685 KEEP 22 0 0 14 489 GG 0.993072 0.928018 0 2 22 77 0 0 6.835493 5 30 190 109 0.285714 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19474764 19474764 __UNKNOWN__ IGR SNP G G T rs74961150 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:19474764G>T NA NA RP11-536C10.16 (60866 upstream) : MED15P1 (25081 downstream) NA NA NA TTAAAACTATGCAGTGAGTGC 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.19474764G>T NA hg19 0.02 4.137508 TATxCAG COVERED NOVEL 0 0 2.708866 KEEP 16 0 0 9 319 GG 0.99257 0.99256 0 6 40 199 0 0 12.864967 96 60 3566 160 0.058824 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19474798 19474798 __UNKNOWN__ IGR SNP G G T rs200601273 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:19474798G>T NA NA RP11-536C10.16 (60900 upstream) : MED15P1 (25047 downstream) NA NA NA ATTTTTTTTCGTGTTATTTTT 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.19474798G>T NA hg19 0.02 3.976542 TTCxTGT COVERED NOVEL 0 0 2.708761 KEEP 0 0 0 9 312 GG 0.99254 0.992536 0 8 40 280 0 0 19.370408 102 60 3526 144 0.072727 0.999996 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19499370 19499370 __UNKNOWN__ IGR SNP T T A rs200539664 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:19499370T>A NA NA RP11-536C10.16 (85472 upstream) : MED15P1 (475 downstream) NA NA NA CCCAGACAGCTCCTCTGGGTC 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.19499370T>A NA hg19 0.02 1.893069 AGCxCCT UNCOVERED NOVEL 0 0 2.407323 KEEP 15 0 0 8 249 TT 0 0 0 17 27 537 0 0 45.205005 51 27 1810 92 0.25 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19762366 19762366 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:19762366G>A NA NA RP11-496I2.2 (19622 upstream) : RP11-146E13.4 (49809 downstream) NA NA NA gcagtgggccgagattccacc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.19762366G>A NA hg19 0.02 -0.052637 GCCxAGA UNCOVERED NOVEL 0 2 2.407495 KEEP 5 0 0 8 263 GG 0 0 0 3 49 100 0 0 9.624792 3 50 112 20 0.5 0.036766 AE000662.92 0 __UNKNOWN__ __UNKNOWN__ 14 23027432 23027432 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:23027432C>A ENST00000557595.1 + 4 470 NA NA NA CTGCTTCCGGCTTCCAGAAGG 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000557595.1:c.265-197C>A chr14.hg19:g.23027432C>A NA hg19 0.02 0.506037 CGGxTTC COVERED NOVEL AE000662.92-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000410999.1 1 5.551894 KEEP 0 1 9 22 552 CC 0.999892 0.990857 0 + 13 60 153 0 0 8.030262 48 60 1104 100 ENST00000557595.1 0.213115 0.990964 DHRS4L2 317749 __UNKNOWN__ __UNKNOWN__ 14 24473518 24473518 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:24473518C>A ENST00000335125.6 + 7 791 DHRS4L2_ENST00000382755.4_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Intron NM_198083.3 NP_932349.2 Q6PKH6 DR4L2_HUMAN dehydrogenase/reductase (SDR family) member 4 like 2 NA NA extracellular region (GO:0005576) oxidoreductase activity (GO:0016491) breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 10 GBM - Glioblastoma multiforme(265;0.00962) GAAAAAAAAACATAAAGAGAT 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 31 37 35 NA NA NA 14 NA NA 24473518 2140 4298 6438 SO:0001627 intron_variant CCDS9606.2, CCDS73621.1 14q11.2 2011-09-14 ENSG00000187630 ENSG00000187630 317749 1.1.-.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 19731 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 25C, member 3 615196 NA Standard NM_001193635 NA Approved SDR25C3 uc001wlf.3 Q6PKH6 OTTHUMG00000028778 ENST00000335125.6:c.666-28C>A chr14.hg19:g.24473518C>A NA Q3YLD4 hg19 CCDS9606.2 0.02 6.701488 AAAxATA COVERED NOVEL DHRS4L2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000071858.4 49 22.024895 KEEP 1 10 195 144 4818 CC 1 1 0 + 10 60 255 0 0 13.292556 191 60 6152 500 ENST00000335125.6 0.049751 1 TM9SF1 10548 __UNKNOWN__ __UNKNOWN__ 14 24679203 24679203 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:24679203A>G ENST00000530611.1 - 5 644 CHMP4A_ENST00000609024.1_Intron|CHMP4A_ENST00000347519.6_Intron|CHMP4A_ENST00000530996.1_Intron|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_Intron|TM9SF1_ENST00000556387.1_Intron O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 NA NA autophagy (GO:0006914) cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764) NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1) 24 GBM - Glioblastoma multiforme(265;0.0183) AGCAACTCCAACCATCCCCTG 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 36 38 38 NA NA NA 14 NA NA 24679203 692 1591 2283 SO:0001627 intron_variant U94831 CCDS9617.1, CCDS41934.1, CCDS73623.1 14q11.2 2005-10-11 ENSG00000100926 ENSG00000100926 10548 11864 protein-coding gene gene with protein product NA NA 9332367 Standard NM_006405 NM_006405 NA Approved MP70, HMP70 uc010tob.1 O15321 OTTHUMG00000029322 ENST00000530611.1:c.610+350T>C chr14.hg19:g.24679203A>G NA D3DS65|Q86SZ6|Q96FI8 hg19 0.02 11.304968 CCAxCCA COVERED NOVEL TM9SF1-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000392565.1 3 14.736751 KEEP 0 0 0 49 1377 AA 1 1 0 - 90 60 3120 0 0 282.977752 165 60 5248 332 ENST00000530611.1 0.352941 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 25550367 25550367 __UNKNOWN__ IGR SNP C C T rs7148099|rs60056685 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:25550367C>T NA NA STXBP6 (30864 upstream) : RP11-89K22.1 (43325 downstream) NA NA NA tctttctttccttccttcctt 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.25550367C>T NA hg19 0.02 -0.025894 TTCxTTC UNCOVERED NOVEL 0 5 3.310767 KEEP 5 0 0 11 385 CC 0 0 0 2 60 67 1 0 6.864413 1 6 9 19 0.666667 0 NUBPL 80224 __UNKNOWN__ __UNKNOWN__ 14 32315732 32315732 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:32315732A>G ENST00000281081.7 + 9 794 c.749A>G c.(748-750)aAa>aGa p.K250R NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.K154R NM_001201573.1|NM_001201574.1|NM_025152.2 NP_001188502.1|NP_001188503.1|NP_079428.2 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 250 NA mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584) mitochondrion (GO:0005739) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) endometrium(1)|lung(2)|prostate(1)|skin(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) TGTAAACACAAAACTCATATT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 103 97 99 NA NA NA 14 NA NA 32315732 1860 4107 5967 SO:0001583 missense AK022722 CCDS41940.1 14q12 2012-10-12 2005-01-07 2005-01-07 ENSG00000151413 ENSG00000151413 80224 Mitochondrial respiratory chain complex assembly factors 20278 protein-coding gene gene with protein product iron-sulfur protein required for NADH dehydrogenase 613621 chromosome 14 open reading frame 127 C14orf127 NA Standard NM_025152 NM_025152 NA Approved FLJ12660, IND1, huInd1 uc001wrk.4 Q8TB37 OTTHUMG00000170521 ENST00000281081.7:c.749A>G chr14.hg19:g.32315732A>G ENSP00000281081:p.Lys250Arg NA B4DHZ1|Q86TZ4|Q9H9M2 hg19 CCDS41940.1 0.02 8.85106 ACAxAAC COVERED . . . . . . . . . . A 13.12 2.140788 0.37825 . . ENSG00000151413 ENST00000550649;ENST00000281081;ENST00000536705 T;T;T 0.29655 1.56;1.56;1.56 5.63 4.48 0.54585 . 0.246954 0.48767 N 0.000177 T 0.17450 0.0419 N 0.17764 0.52 0.31586 N 0.654454 B;B 0.02656 0.0;0.0 B;B 0.06405 0.001;0.002 T 0.20306 -1.0279 10 0.12103 T 0.63 -33.8143 9.8527 0.41066 0.9187:0.0:0.0813:0.0 . 154;250 B4DWB0;Q8TB37 .;NUBPL_HUMAN R 116;250;154 ENSP00000447618:K116R;ENSP00000281081:K250R;ENSP00000439286:K154R ENSP00000281081:K250R K + 2 0 NUBPL 31385483 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.514000 0.45503 0.962000 0.38057 0.533000 0.62120 AAA NOVEL NUBPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409519.1 3 11.423318 KEEP 0 0 0 38 1150 AA 1 1 0 + 65 60 2363 0 0 208.126225 163 60 5681 346 ENST00000281081.7 0.285088 1 SPTSSA 171546 __UNKNOWN__ __UNKNOWN__ 14 34903190 34903190 __UNKNOWN__ 3'UTR SNP C C A rs373695981|rs200039450 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:34903190C>A ENST00000298130.4 - 0 1581 NM_138288.3 NP_612145.2 Q969W0 SPTSA_HUMAN serine palmitoyltransferase, small subunit A NA NA sphingolipid biosynthetic process (GO:0030148) integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059) NA aacaaaaaaaCAACCCAGCAA 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001993 CCDS9647.2 14q13.1 2011-07-26 2011-07-26 2011-07-26 ENSG00000165389 ENSG00000165389 171546 20361 protein-coding gene gene with protein product small subunit of serine palmitoyltransferase A 613540 chromosome 14 open reading frame 147 C14orf147 NA 19416851 Standard NM_138288 NM_138288 NA Approved ssSPTa uc001wsc.3 Q969W0 OTTHUMG00000140212 ENST00000298130.4:c.*1217G>T chr14.hg19:g.34903190C>A NA B2RD54|D3DS93|Q8WTZ7 hg19 CCDS9647.2 0.02 1.479492 AAAxAAC COVERED NOVEL SPTSSA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276640.2 2 7.155712 KEEP 0 0 0 24 723 CC 0.999909 0.996634 0 - 7 60 143 0 0 8.049091 63 70 1992 114 ENST00000298130.4 0.1 0.996724 SEC23A 10484 __UNKNOWN__ __UNKNOWN__ 14 39565307 39565307 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:39565307C>T ENST00000553970.1 - 2 248 c.16G>A c.(16-18)Gaa>Aaa p.E6K SEC23A_ENST00000307712.6_Missense_Mutation_p.E6K|SEC23A_ENST00000548032.2_Missense_Mutation_p.E6K|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000557280.1_Missense_Mutation_p.E6K|SEC23A_ENST00000545328.2_Missense_Mutation_p.E6K Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 6 NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192) COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471) zinc ion binding (GO:0008270) kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TGAATGAATTCCAAATAGGTT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 109 102 105 NA NA NA 14 NA NA 39565307 2203 4300 6503 SO:0001583 missense X97064 CCDS9668.1 14q21.1 2008-05-14 2001-11-28 ENSG00000100934 ENSG00000100934 10484 10701 protein-coding gene gene with protein product 610511 Sec23 (S. cerevisiae) homolog A NA 8898360, 10329445 Standard NM_006364 NA Approved uc001wup.1 Q15436 OTTHUMG00000028812 ENST00000553970.1:c.16G>A chr14.hg19:g.39565307C>T ENSP00000451924:p.Glu6Lys NA B2R5P4|B3KXI2|Q8NE16 hg19 0.02 26.129871 ATTxCAA COVERED . . . . . . . . . . C 36 5.929835 0.97116 . . ENSG00000100934 ENST00000307712;ENST00000545328;ENST00000555017;ENST00000556092;ENST00000548032;ENST00000555425;ENST00000557280;ENST00000553970;ENST00000557437 D;D;D;D;D;D;D;D;D 0.91011 -2.41;-2.41;-1.76;-1.79;-2.64;-2.59;-2.68;-2.68;-2.77 5.72 5.72 0.89469 . 0.000000 0.85682 D 0.000000 D 0.93687 0.7983 L 0.58101 1.795 0.80722 D 1 P;D 0.62365 0.951;0.991 P;P 0.58721 0.823;0.844 D 0.93870 0.7161 10 0.87932 D 0 -22.9284 19.8885 0.96919 0.0:1.0:0.0:0.0 . 6;6 F5H365;Q15436 .;SC23A_HUMAN K 6 ENSP00000306881:E6K;ENSP00000445393:E6K;ENSP00000450819:E6K;ENSP00000451230:E6K;ENSP00000447489:E6K;ENSP00000451999:E6K;ENSP00000452575:E6K;ENSP00000451924:E6K;ENSP00000452390:E6K ENSP00000306881:E6K E - 1 0 SEC23A 38635058 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.802000 0.85969 2.700000 0.92200 0.563000 0.77884 GAA NOVEL SEC23A-012 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409973.1 4 22.572113 KEEP 0 0 0 75 2562 CC 1 1 0 - 29 60 975 1 0 59.925772 646 60 22450 878 ENST00000553970.1 0.042963 1 GEMIN2 8487 __UNKNOWN__ __UNKNOWN__ 14 39591627 39591627 __UNKNOWN__ Intron SNP C C T rs202076636 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:39591627C>T ENST00000308317.6 + 5 488 GEMIN2_ENST00000396249.2_Intron|GEMIN2_ENST00000250379.8_Intron NM_003616.2 NP_003607.1 O14893 GEMI2_HUMAN gem (nuclear organelle) associated protein 2 NA NA gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681) NA TTTTTTTTTTCTTTTAGCCAA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 21 24 23 NA NA NA 14 NA NA 39591627 2178 4289 6467 SO:0001627 intron_variant AF027150 CCDS9669.1, CCDS32068.1, CCDS41946.1 14q21.1 2011-08-04 2011-08-04 2011-08-04 ENSG00000092208 ENSG00000092208 8487 10884 protein-coding gene gene with protein product 602595 survival of motor neuron protein interacting protein 1 SIP1 NA 9323130, 9323129, 11121410 Standard NM_003616 NA Approved uc001wuq.3 O14893 OTTHUMG00000028816 ENST00000308317.6:c.406-7C>T chr14.hg19:g.39591627C>T NA B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79 hg19 CCDS9669.1 0.02 2.490646 TTTxTTT COVERED NOVEL GEMIN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276730.2 0 3.869377 KEEP 0 2 16 19 563 CC 0.999869 0.999869 0 + 14 60 245 2 0 12.862955 113 60 2894 173 ENST00000308317.6 0.110236 1 PNN 5411 __UNKNOWN__ __UNKNOWN__ 14 39650562 39650562 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:39650562C>G ENST00000216832.4 + 9 1716 c.1649C>G c.(1648-1650)cCa>cGa p.P550R PNN_ENST00000557680.1_Intron NM_002687.3 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 550 NA P -> S (in Ref. 1; AA sequence). {ECO:0000305}. cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198) breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) ACAGTACATCCAGAGAGCAAG 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 130 133 132 NA NA NA 14 NA NA 39650562 2203 4300 6503 SO:0001583 missense U77718 CCDS9671.1 14q21.1 2010-07-02 ENSG00000100941 ENSG00000100941 5411 9162 protein-coding gene gene with protein product 603154 NA 8922384 Standard NM_002687 NM_002687 NA Approved memA uc001wuw.4 Q9H307 OTTHUMG00000028821 ENST00000216832.4:c.1649C>G chr14.hg19:g.39650562C>G ENSP00000216832:p.Pro550Arg NA B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9 hg19 CCDS9671.1 0.02 17.952181 ATCxAGA COVERED . . . . . . . . . . C 7.424 0.637249 0.14386 . . ENSG00000100941 ENST00000216832 T 0.41065 1.01 6.16 4.36 0.52297 . 1.641760 0.02946 N 0.141087 T 0.39036 0.1063 L 0.34521 1.04 0.44780 D 0.997782 B 0.18166 0.026 B 0.15484 0.013 T 0.02789 -1.1110 10 0.45353 T 0.12 18.564 10.826 0.46633 0.0:0.7517:0.0:0.2483 . 550 Q9H307 PININ_HUMAN R 550 ENSP00000216832:P550R ENSP00000216832:P550R P + 2 0 PNN 38720313 0.013000 0.17824 0.461000 0.27105 0.990000 0.78478 0.206000 0.17375 0.945000 0.37605 0.650000 0.86243 CCA NOVEL PNN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276776.2 3 16.552492 KEEP 0 0 0 55 1879 CC 1 1 0 + 19 60 632 0 0 37.932104 442 60 16058 650 ENST00000216832.4 0.041215 1 PNN 5411 __UNKNOWN__ __UNKNOWN__ 14 39651790 39651790 __UNKNOWN__ 3'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:39651790C>G ENST00000216832.4 + 0 2944 PNN_ENST00000557680.1_3'UTR NM_002687.3 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein NA NA cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198) breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) ATTCTTTTGTCTTCATGGTTA 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U77718 CCDS9671.1 14q21.1 2010-07-02 ENSG00000100941 ENSG00000100941 5411 9162 protein-coding gene gene with protein product 603154 NA 8922384 Standard NM_002687 NM_002687 NA Approved memA uc001wuw.4 Q9H307 OTTHUMG00000028821 ENST00000216832.4:c.*723C>G chr14.hg19:g.39651790C>G NA B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9 hg19 CCDS9671.1 0.02 12.619896 TGTxTTC COVERED NOVEL PNN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276776.2 3 7.825388 KEEP 0 0 0 26 908 CC 0.999957 0.999957 0 + 9 60 338 0 0 20.029412 333 60 12149 424 ENST00000216832.4 0.026316 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 39685989 39685989 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:39685989G>A NA NA PNN (33567 upstream) : RP11-407N17.3 (17116 downstream) NA NA NA GTGGGAATTTGATTTTATCCT 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.39685989G>A NA hg19 0.02 21.630517 TTTxATT COVERED NOVEL 0 7 25.879568 KEEP 191 0 0 86 2914 GG 1 1 0 22 49 732 0 0 43.445192 553 50 20079 937 0.038261 1 MIA2 117153 __UNKNOWN__ __UNKNOWN__ 14 39709881 39709881 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:39709881G>A ENST00000280082.3 + 3 535 MIA2_ENST00000556784.1_Intron|RP11-407N17.3_ENST00000553728.1_Intron NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 NA NA cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328) endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576) NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GTTGTTAATTGAATTTAAAAT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 41 41 NA NA NA 14 NA NA 39709881 2203 4299 6502 SO:0001627 intron_variant BC035981 CCDS9672.1 14q13.2 2007-05-01 ENSG00000150526 ENSG00000150526 117153 18432 protein-coding gene gene with protein product 608001 NA 12586826 Standard NM_054024 NM_054024 NA Approved FLJ22404 uc001wux.3 Q96PC5 OTTHUMG00000028831 ENST00000280082.3:c.336+30G>A chr14.hg19:g.39709881G>A NA A1L4H0|Q9H6C1 hg19 CCDS9672.1 0.02 3.379264 ATTxAAT COVERED NOVEL MIA2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000276768.3 0 2.708466 KEEP 0 0 0 9 298 GG 0.99254 0.99254 0 + 6 60 208 0 0 12.764428 142 60 5071 171 ENST00000280082.3 0.040541 1 MIA2 117153 __UNKNOWN__ __UNKNOWN__ 14 39716486 39716486 __UNKNOWN__ Silent SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:39716486G>A ENST00000280082.3 + 4 907 c.708G>A c.(706-708)gaG>gaA p.E236E MIA2_ENST00000556784.1_Silent_p.E235E|RP11-407N17.3_ENST00000553728.1_Silent_p.E236E NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 236 NA cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328) endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576) NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) AAGCTGAAGAGAAGGCTTTTG 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 83 83 83 NA NA NA 14 NA NA 39716486 2203 4300 6503 SO:0001819 synonymous_variant BC035981 CCDS9672.1 14q13.2 2007-05-01 ENSG00000150526 ENSG00000150526 117153 18432 protein-coding gene gene with protein product 608001 NA 12586826 Standard NM_054024 NM_054024 NA Approved FLJ22404 uc001wux.3 Q96PC5 OTTHUMG00000028831 ENST00000280082.3:c.708G>A chr14.hg19:g.39716486G>A NA A1L4H0|Q9H6C1 hg19 CCDS9672.1 0.02 22.567646 AGAxAAG COVERED NOVEL MIA2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000276768.3 4 10.258108 KEEP 0 1 28 44 1501 GG 1 1 0 + 28 60 989 0 0 64.026803 531 60 19224 738 ENST00000280082.3 0.050089 1 MDGA2 161357 __UNKNOWN__ __UNKNOWN__ 14 47310821 47310821 __UNKNOWN__ 3'UTR SNP C C T rs200571407 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:47310821C>T ENST00000399232.2 - 0 3548 MDGA2_ENST00000426342.1_3'UTR|MDGA2_ENST00000399222.3_3'UTR NM_001113498.2 NP_001106970.3 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 NA NA pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ttttttttttctttttttcat 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AI859192 CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3 14q21.2 2013-01-29 2007-04-03 2007-04-03 ENSG00000139915 ENSG00000139915 161357 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 19835 protein-coding gene gene with protein product 611128 MAM domain containing 1 MAMDC1 NA 15019943 Standard NM_182830 NM_001113498 NA Approved uc001wwj.4 Q7Z553 OTTHUMG00000029429 ENST00000399232.2:c.*313G>A chr14.hg19:g.47310821C>T NA F6W3S7|J3KPX6 hg19 0.02 3.194507 TTTxTTT COVERED NOVEL MDGA2-001 KNOWN upstream_ATG|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000073352.5 0 2.700971 KEEP 0 0 0 9 273 CC 0.99254 0.992536 0 - 11 60 185 0 0 9.926608 83 60 2450 133 ENST00000399232.2 0.117021 0.999996 NID2 22795 __UNKNOWN__ __UNKNOWN__ 14 52486123 52486123 __UNKNOWN__ Intron SNP C C G rs17124896 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:52486123C>G ENST00000216286.5 - 14 2794 NID2_ENST00000541773.1_Intron NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) NA NA basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TTTTGGAGCCCGAGATTCTTA 0.453 NA NA c||| 325 0.0648962 0.0953 0.0562 5008 , , NA 19686 0.006 NA 0.1193 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB009799 CCDS9706.1 14q22.1 2008-05-14 ENSG00000087303 ENSG00000087303 22795 13389 protein-coding gene gene with protein product 605399 NA 9733643 Standard NM_007361 NA Approved uc001wzo.3 Q14112 OTTHUMG00000140298 ENST00000216286.5:c.2795-111G>C chr14.hg19:g.52486123C>G NA A8K6I7|B4DU19|O43710 hg19 CCDS9706.1 0.02 2.044462 GCCxGAG COVERED NOVEL NID2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276888.1 1 2.707693 KEEP 0 0 0 9 275 CC 0.99254 0.984693 0 - 27 60 931 0 0 87.556426 35 60 999 73 ENST00000216286.5 0.435484 0.992094 PRKCH 5583 __UNKNOWN__ __UNKNOWN__ 14 61924179 61924179 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:61924179C>G ENST00000332981.5 + 9 1489 PRKCH_ENST00000555082.1_Intron NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta NA NA blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) ACCCTAAGACCCCCAAGAGGA 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(135;863 1779 8064 14443 26348) NA NA 0 85 88 87 NA NA NA 14 NA NA 61924179 2203 4300 6503 SO:0001627 intron_variant M55284 CCDS9752.1 14q23.1 2009-07-10 ENSG00000027075 ENSG00000027075 5583 2.7.11.1 9403 protein-coding gene gene with protein product 605437 PRKCL NA 1986216, 1545821 Standard NM_006255 NM_006255 NA Approved PKC-L, PKCL uc001xfn.3 P24723 OTTHUMG00000152341 ENST00000332981.5:c.1105-45C>G chr14.hg19:g.61924179C>G NA B4DJN5|Q16246|Q8NE03 hg19 CCDS9752.1 0.02 1.895164 GACxCCC COVERED NOVEL PRKCH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276974.2 0 2.407419 KEEP 0 0 0 8 256 CC 0.99257 0.991687 0 + 30 60 962 0 0 87.730822 49 60 1668 90 ENST00000332981.5 0.379747 0.99911 PPP1R36 145376 __UNKNOWN__ __UNKNOWN__ 14 65028416 65028416 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:65028416C>T ENST00000298705.1 + 4 278 RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 PPR36_HUMAN protein phosphatase 1, regulatory subunit 36 NA NA negative regulation of phosphatase activity (GO:0010923) phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864) NA GAGATAATACCTTTACTCACA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9767.1 14q23.2 2012-04-17 2011-10-11 2011-10-11 ENSG00000165807 ENSG00000165807 145376 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 20097 protein-coding gene gene with protein product NA chromosome 14 open reading frame 50 C14orf50 NA Standard NM_172365 NM_172365 NA Approved uc001xhl.1 Q96LQ0 OTTHUMG00000141316 ENST00000298705.1:c.183-3053C>T chr14.hg19:g.65028416C>T NA Q6NTH6 hg19 CCDS9767.1 0.02 2.22613 TACxTTT COVERED NOVEL PPP1R36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280667.1 0 3.908737 KEEP 0 0 0 13 423 CC 0.994391 0.987356 0 + 24 60 868 0 0 79.862552 40 60 1415 91 ENST00000298705.1 0.375 0.992926 IRF2BPL 64207 __UNKNOWN__ __UNKNOWN__ 14 77491348 77491348 __UNKNOWN__ 3'UTR SNP C C T rs1059245 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:77491348C>T ENST00000238647.3 - 0 3686 NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like NA NA development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) extracellular space (GO:0005615)|nucleus (GO:0005634) metal ion binding (GO:0046872) endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 aaGTCTTTTTCTTTTGTGTGT 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ277365 CCDS9854.1 14q24.3 2011-02-23 2011-02-23 2011-02-23 ENSG00000119669 ENSG00000119669 64207 14282 protein-coding gene gene with protein product enhanced at puberty 1 611720 chromosome 14 open reading frame 4 C14orf4 NA 11095982, 17627301 Standard NM_024496 NM_024496 NA Approved EAP1, KIAA1865 uc001xsy.4 Q9H1B7 ENST00000238647.3:c.*397G>A chr14.hg19:g.77491348C>T NA Q8NDQ2|Q96JG2|Q9H3I7 hg19 CCDS9854.1 0.02 -0.348843 TTTxTTT COVERED NOVEL IRF2BPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414298.1 0 3.608598 KEEP 0 0 0 12 358 CC 0.993634 0.87212 0 - 6 60 115 0 0 7.266689 32 60 955 56 ENST00000238647.3 0.157895 0.877708 TMEM63C 57156 __UNKNOWN__ __UNKNOWN__ 14 77718239 77718239 __UNKNOWN__ Missense_Mutation SNP G G A rs368565249 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:77718239G>A ENST00000298351.4 + 22 2290 c.2146G>A c.(2146-2148)Gag>Aag p.E716K NM_020431.2 NP_065164.2 Q9P1W3 CSC1_HUMAN transmembrane protein 63C 716 NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812) integral component of membrane (GO:0016021) calcium activated cation channel activity (GO:0005227) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TGCCGACTACGAGGTGAGTTG 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G LYS/GLU 1,3979 0,1,1989 97 97 97 NA 2146 0 0.3 14 97 0,8318 0,0,4159 no missense TMEM63C NM_020431.2 56 0,1,6148 AA,AG,GG NA 0.0,0.0251,0.0081 benign 716/807 77718239 1,12297 1990 4159 6149 SO:0001583 missense CCDS45141.1 14q24.3 2014-05-30 2005-07-25 2005-07-25 ENSG00000165548 ENSG00000165548 57156 23787 protein-coding gene gene with protein product calcium permeable stress-gated cation channel 1 homolog (Arabidopsis) NA chromosome 14 open reading frame 171 C14orf171 NA 24503647 Standard NM_020431 NA Approved DKFZp434P0111, CSC1, hsCSC1 uc001xtf.2 Q9P1W3 OTTHUMG00000171557 ENST00000298351.4:c.2146G>A chr14.hg19:g.77718239G>A ENSP00000298351:p.Glu716Lys NA B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1 hg19 CCDS45141.1 0.02 14.192846 TACxAGG COVERED . . . . . . . . . . G 2.865 -0.235304 0.05983 2.51E-4 0.0 ENSG00000165548 ENST00000298351;ENST00000536110 T 0.16073 2.37 5.56 0.0396 0.14205 . 0.437819 0.27976 N 0.017094 T 0.10165 0.0249 L 0.57536 1.79 0.20196 N 0.999922 P 0.43701 0.815 B 0.34038 0.174 T 0.36114 -0.9761 10 0.05959 T 0.93 -9.688 7.8809 0.29621 0.1601:0.4948:0.3451:0.0 . 716 Q9P1W3 TM63C_HUMAN K 716;286 ENSP00000298351:E716K ENSP00000298351:E716K E + 1 0 TMEM63C 76787992 0.336000 0.24757 0.285000 0.24819 0.004000 0.04260 0.523000 0.22925 0.274000 0.22072 -1.099000 0.02127 GAG NOVEL TMEM63C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414193.1 1 7.222909 KEEP 0 0 0 24 817 GG 0.999909 0.999909 0 + 212 60 7196 0 0 708.857219 164 60 5942 503 ENST00000298351.4 0.56383 1 NRXN3 9369 __UNKNOWN__ __UNKNOWN__ 14 79276714 79276714 __UNKNOWN__ Intron SNP G G T rs368371631 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:79276714G>T ENST00000554719.1 + 7 1647 NRXN3_ENST00000335750.5_Intron NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 NA NA adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625) integral component of membrane (GO:0016021) cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GTTTCATTTTGTTCTTTAAAA 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 50 51 NA NA NA 14 NA NA 79276714 2200 4296 6496 SO:0001627 intron_variant AB018286 CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1 14q31 2010-01-19 ENSG00000021645 9369 8010 protein-coding gene gene with protein product 600567 chromosome 14 open reading frame 60 C14orf60 NA 11944992, 12379233 Standard NM_001105250 NM_004796 NA Approved KIAA0743 uc001xun.4 Q9HDB5 ENST00000554719.1:c.1156+27G>T chr14.hg19:g.79276714G>T NA A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8 hg19 CCDS9870.1 0.02 1.827511 TTTxTTC COVERED NOVEL NRXN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413787.1 0 2.93378 KEEP 0 0 0 10 248 GG 0.992708 0.986456 0 + 10 60 178 0 0 10.739773 55 60 1648 103 ENST00000554719.1 0.153846 0.993703 CATSPERB 79820 __UNKNOWN__ __UNKNOWN__ 14 92076823 92076823 __UNKNOWN__ Splice_Site SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:92076823C>G ENST00000256343.3 - 21 2755 c.e21+1 NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta NA NA cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283) CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886) NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTTTTTTTTACCGGCAAAGTT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 45 44 NA NA NA 14 NA NA 92076823 2203 4300 6503 SO:0001630 splice_region_variant AK024360 CCDS32142.1 14q32.12 2012-02-22 2012-02-22 2007-10-18 ENSG00000133962 ENSG00000133962 79820 20500 protein-coding gene gene with protein product 611169 chromosome 14 open reading frame 161, cation channel, sperm-associated, beta C14orf161 NA 17478420 Standard NM_024764 NM_024764 NA Approved FLJ14298 uc001xzs.1 Q9H7T0 OTTHUMG00000171118 ENST00000256343.3:c.2598+1G>C chr14.hg19:g.92076823C>G NA A0AV51 hg19 CCDS32142.1 0.02 6.561322 TTAxCGG COVERED . . . . . . . . . . C 18.53 3.644015 0.67244 . . ENSG00000133962 ENST00000256343 . . . 5.75 5.75 0.90469 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.4435 0.75208 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . CATSPERB 91146576 1.000000 0.71417 1.000000 0.80357 0.844000 0.47949 3.855000 0.55957 2.710000 0.92621 0.563000 0.77884 . NOVEL CATSPERB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411769.1 0 5.414341 KEEP 0 0 0 18 575 CC 0.999859 0.999859 0 Intron - 70 70 2450 0 1 223.307079 124 70 4329 239 ENST00000256343.3 0.360825 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 103236178 103236178 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:103236178C>G NA NA RCOR1 (39265 upstream) : RP11-661D19.3 (198 downstream) NA NA NA taaacaacaacaaCATCAAgc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.103236178C>G NA hg19 0.02 -0.078957 CAAxAAC UNCOVERED NOVEL 0 3 2.407659 KEEP 0 0 0 8 276 CC 0.99257 0.076761 0 7 60 259 0 0 27.168937 2 60 72 20 0.777778 0.077336 BRF1 2972 __UNKNOWN__ __UNKNOWN__ 14 105693853 105693853 __UNKNOWN__ Intron SNP G G A rs587701746 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:105693853G>A ENST00000546474.1 - 8 15748 BRF1_ENST00000551787.1_Intron|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_Intron|BRF1_ENST00000327359.3_Intron NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit NA NA gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304) nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126) zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GCCCCTCGGCGCCCAGGTCCC 0.557 NA NA G||| 1 0.000199681 0 0 5008 , , NA 17806 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U28838 CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1 14q32.33 2014-04-02 2013-05-29 2001-12-07 ENSG00000185024 ENSG00000185024 2972 General transcription factors 11551 protein-coding gene gene with protein product 604902 TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2, BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) TAF3B2, TAF3C, GTF3B NA 7624363, 8943358 Standard NM_001519 NM_145685 NA Approved TFIIIB90, BRF, hBRF uc001yqp.2 Q92994 OTTHUMG00000029884 ENST00000546474.1:c.789-756C>T chr14.hg19:g.105693853G>A NA B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8 hg19 CCDS10001.1 0.02 8.181642 GGCxCCC COVERED NOVEL BRF1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074548.4 4 22.94236 KEEP 0 1 30 87 2901 GG 1 1 0 - 91 60 3004 0 0 283.924243 109 60 3673 384 ENST00000546474.1 0.455 1 BRF1 2972 __UNKNOWN__ __UNKNOWN__ 14 105707682 105707682 __UNKNOWN__ Missense_Mutation SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:105707682A>T ENST00000546474.1 - 6 15573 c.614T>A c.(613-615)aTg>aAg p.M205K BRF1_ENST00000551787.1_Start_Codon_SNP_p.M1K|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.M90K|BRF1_ENST00000379932.4_Start_Codon_SNP_p.M1K|BRF1_ENST00000379937.2_Missense_Mutation_p.M178K|BRF1_ENST00000392557.4_Start_Codon_SNP_p.M1K|BRF1_ENST00000327359.3_Missense_Mutation_p.M90K NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 205 NA gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304) nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126) zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CAGGGCAGTCATGGACACCTC 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 99 80 86 NA NA NA 14 NA NA 105707682 2202 4300 6502 SO:0001583 missense U28838 CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1 14q32.33 2014-04-02 2013-05-29 2001-12-07 ENSG00000185024 ENSG00000185024 2972 General transcription factors 11551 protein-coding gene gene with protein product 604902 TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2, BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) TAF3B2, TAF3C, GTF3B NA 7624363, 8943358 Standard NM_001519 NM_145685 NA Approved TFIIIB90, BRF, hBRF uc001yqp.2 Q92994 OTTHUMG00000029884 ENST00000546474.1:c.614T>A chr14.hg19:g.105707682A>T ENSP00000448323:p.Met205Lys NA B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8 hg19 CCDS10001.1 0.02 6.370127 GTCxTGG COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 18.10|18.10 3.547626|3.547626 0.65311|0.65311 .|. .|. ENSG00000185024|ENSG00000185024 ENST00000546417|ENST00000392557;ENST00000379937;ENST00000546474;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127;ENST00000550208;ENST00000550375 .|. .|. .|. 4.51|4.51 4.51|4.51 0.55191|0.55191 .|Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3); .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.41743|0.41743 0.1172|0.1172 L|L 0.35542|0.35542 1.07|1.07 0.39825|0.39825 D|D 0.972896|0.972896 .|B;P;P .|0.38250 .|0.041;0.57;0.624 .|B;B;B .|0.43445 .|0.096;0.295;0.42 T|T 0.34950|0.34950 -0.9808|-0.9808 5|9 .|0.02654 .|T .|1 .|. 12.0637|12.0637 0.53576|0.53576 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. .|90;178;205 .|F5H5Z7;Q92994-5;Q92994 .|.;.;TF3B_HUMAN Q|K 58|1;178;205;1;1;1;90;90;1;1;1;1 .|. .|ENSP00000329029:M90K H|M -|- 3|2 2|0 BRF1|BRF1 104778727|104778727 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.878000|0.878000 0.50629|0.50629 8.674000|8.674000 0.91191|0.91191 1.802000|1.802000 0.52723|0.52723 0.482000|0.482000 0.46254|0.46254 CAT|ATG NOVEL BRF1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074548.4 1 16.235104 KEEP 0 0 0 54 1612 AA 1 1 0 - 69 60 2471 0 0 225.373782 124 60 4340 326 ENST00000546474.1 0.357513 1 IGHV3-7 28452 __UNKNOWN__ __UNKNOWN__ 14 106518627 106518627 __UNKNOWN__ RNA SNP C C A rs370962508 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:106518627C>A ENST00000390598.2 - 0 202 immunoglobulin heavy variable 3-7 NA NA NA CCAGAGGCTGCACAGGAGAGT 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 122 119 120 NA NA NA 14 NA NA 106518627 1844 4074 5918 M99649 14q32.33 2012-02-08 ENSG00000211938 ENSG00000211938 28452 Immunoglobulins / IGH locus 5620 other immunoglobulin gene NA NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152271 ENST00000390598.2: chr14.hg19:g.106518627C>A NA hg19 0.02 9.754823 CTGxACA COVERED NOVEL IGHV3-7-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325659.1 11 7.87098 KEEP 1 2 44 42 1380 CC 1 1 0 - 13 53 407 0 0 24.545782 247 60 8763 339 ENST00000390598.2 0.05 1 IGHV3-7 28452 __UNKNOWN__ __UNKNOWN__ 14 106518704 106518704 __UNKNOWN__ RNA SNP C C T rs199995238 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:106518704C>T ENST00000390598.2 - 0 125 immunoglobulin heavy variable 3-7 NA NA NA ACACTGGACACCTGCAAACAA 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 151 143 145 NA NA NA 14 NA NA 106518704 1885 4101 5986 M99649 14q32.33 2012-02-08 ENSG00000211938 ENSG00000211938 28452 Immunoglobulins / IGH locus 5620 other immunoglobulin gene NA NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152271 ENST00000390598.2: chr14.hg19:g.106518704C>T NA hg19 0.02 9.516632 ACAxCTG COVERED NOVEL IGHV3-7-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325659.1 20 7.450126 KEEP 4 3 71 50 1711 CC 1 1 0 - 20 53 656 0 0 43.759235 264 60 9239 411 ENST00000390598.2 0.070423 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106573144 106573144 __UNKNOWN__ IGR SNP T T A rs76812739 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:106573144T>A NA NA IGHV3-9 (20335 upstream) : IGHV3-11 (88 downstream) NA NA NA AGCCCCGTGCTCAGTGTCCCG 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.106573144T>A NA hg19 0.02 1.883175 TGCxCAG COVERED NOVEL 0 32 3.008297 KEEP 0 0 0 10 299 TT 0.992708 0.988968 0 5 40 174 0 0 12.315055 55 60 1912 85 0.083333 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106714625 106714625 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:106714625G>T NA NA IGHV3-21 (22422 upstream) : IGHV3-23 (10575 downstream) NA NA NA CCCCCAGGCTGTACCAAGCCT 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.106714625G>T NA hg19 0.02 3.875583 GCTxTAC COVERED NOVEL 0 1 3.912729 KEEP 5 0 0 13 458 GG 0.994391 0.994391 0 5 40 176 0 0 10.840503 122 60 4246 191 0.03937 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 107099216 107099216 __UNKNOWN__ IGR SNP G G A rs2904630 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:107099216G>A NA NA IGHV4-61 (3554 upstream) : IGHV3-64 (14524 downstream) NA NA NA CATTGTCTCTGGAGATGGTGA 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.107099216G>A NA hg19 0.02 6.586869 TCTxGAG COVERED NOVEL 0 13 2.442288 KEEP 0 1 19 15 526 GG 0.997832 0.997832 0 31 60 1101 0 0 91.217578 124 60 4517 213 0.2 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 107099230 107099230 __UNKNOWN__ IGR SNP G G A rs2904629 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr14:107099230G>A NA NA IGHV4-61 (3568 upstream) : IGHV3-64 (14510 downstream) NA NA NA ATGGTGAATCGGCCCTTCACA 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.107099230G>A NA hg19 0.02 6.384473 ATCxGCC COVERED NOVEL 0 19 2.440667 KEEP 0 1 25 17 555 GG 0.999859 0.999859 0 26 60 941 0 0 75.174711 141 60 4482 234 0.155689 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20137962 20137962 __UNKNOWN__ IGR SNP C C T rs62007905 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:20137962C>T NA NA RNU6-978P (48993 upstream) : IGHV1OR15-9 (31956 downstream) NA NA NA atctcctgacctcgtgataaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.20137962C>T NA hg19 0.02 -0.193009 GACxTCG UNCOVERED NOVEL 0 5 2.708242 KEEP 10 0 0 9 295 CC 0 0 0 3 25 109 0 1 9.28161 10 60 371 49 0.230769 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20446609 20446609 __UNKNOWN__ IGR SNP T T C rs11248726 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:20446609T>C NA NA RP11-173D3.1 (93403 upstream) : CHEK2P2 (41387 downstream) NA NA NA cgtgagccactgcacccagcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.20446609T>C NA hg19 0.02 -0.149101 CACxGCA COVERED NOVEL 0 3 2.407523 KEEP 1 0 0 8 257 TT 0.99257 0.289832 0 9 60 283 0 0 27.827147 7 60 257 30 0.5625 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20457319 20457319 __UNKNOWN__ IGR SNP C C A rs8038741 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:20457319C>A NA NA RP11-173D3.1 (104113 upstream) : CHEK2P2 (30677 downstream) NA NA NA GCACGCTGAGCATGGCAGGGC 0.443 NA NA c||| 2252 0.449681 0.4622 0.4424 5008 , , NA 63761 0.3988 NA 0.4742 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.20457319C>A NA hg19 0.02 14.106142 GAGxATG COVERED NOVEL 0 1 5.251716 KEEP 12 1 30 28 989 CC 0.999957 0.999957 0 81 60 2791 0 0 231.545961 306 60 11148 534 0.209302 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20502378 20502378 __UNKNOWN__ IGR SNP T T A rs7402259 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:20502378T>A NA NA CHEK2P2 (5567 upstream) : snoU13 (54960 downstream) NA NA NA tctgcccaccttggcctccca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.20502378T>A NA hg19 0.02 -0.1227 ACCxTGG COVERED NOVEL 0 3 2.708335 KEEP 0 0 0 9 286 TT 0.99254 0.194847 0 7 60 246 0 0 23.731074 7 60 224 29 0.5 0.196312 HERC2P3 283755 __UNKNOWN__ __UNKNOWN__ 15 20694935 20694935 __UNKNOWN__ RNA SNP A A C rs370356072 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:20694935A>C ENST00000428453.1 - 0 157 Q9BVR0 HRC23_HUMAN hect domain and RLD 2 pseudogene 3 NA NA metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 caagcgatccacccgcctcag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF041081 15q11.2 2010-08-02 ENSG00000180229 ENSG00000180229 283755 4871 pseudogene pseudogene NA NA 9730612 Standard NG_008269 NR_036432 NA Approved D15F37S4, LOC283755 uc001ytg.3 Q9BVR0 OTTHUMG00000157175 ENST00000428453.1: chr15.hg19:g.20694935A>C NA hg19 0.02 -0.070169 TCCxCCC UNCOVERED NOVEL HERC2P3-014 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000347772.2 4 2.340712 KEEP 2 0 0 8 198 AA 0 0 0 - 4 47 148 0 0 14.300945 4 48 124 21 ENST00000428453.1 0.5 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21936669 21936669 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:21936669C>A NA NA RP11-854K16.3 (601245 upstream) : RP11-32B5.7 (4477 downstream) NA NA NA TTTGGCTGAACCCCTTTTTTC 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.21936669C>A NA hg19 0.02 4.290949 GAAxCCC COVERED NOVEL 0 3 2.70854 KEEP 0 0 0 9 304 CC 0.99254 0.992509 0 30 60 952 0 0 82.839301 71 60 2446 126 0.29703 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22413717 22413717 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:22413717C>T NA NA RP11-69H14.6 (29909 upstream) : RP11-2F9.4 (20172 downstream) NA NA NA GGTGGACTTCCTCTCTGAGAA 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.22413717C>T NA hg19 0.02 6.307952 TTCxTCT COVERED NOVEL 0 1 2.407196 KEEP 9 0 0 8 254 CC 0.99257 0.99257 0 8 47 286 0 0 18.49915 158 60 5551 211 0.048193 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22691690 22691690 __UNKNOWN__ IGR SNP G G A rs368893326 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:22691690G>A NA NA MIR4509-2 (16449 upstream) : GOLGA8DP (13030 downstream) NA NA NA GGAATGGAAAGGCTGAAATCC 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.22691690G>A NA hg19 0.02 1.959666 AAAxGCT COVERED NOVEL 0 0 4.213656 KEEP 2 0 0 14 487 GG 0.995343 0.994833 0 15 47 540 0 0 44.127891 68 48 2483 134 0.180723 0.999487 HERC2P2 400322 __UNKNOWN__ __UNKNOWN__ 15 23285498 23285498 __UNKNOWN__ RNA SNP T T A rs116993237 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:23285498T>A ENST00000560464.1 - 0 5097 hect domain and RLD 2 pseudogene 2 NA NA NA CGTCACAGTGTGCGTGCTTGT 0.572 NA NA T||| 333 0.0664936 0.0045 0.0591 5008 , , NA 19187 0.0843 NA 0.0934 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF041080 15q11.2 2014-03-18 ENSG00000140181 400322 4870 pseudogene pseudogene NA NA 9730612 Standard NR_002824 NA Approved D15F37S3 uc001yvq.2 OTTHUMG00000171926 ENST00000560464.1: chr15.hg19:g.23285498T>A NA hg19 0.02 -0.307024 GTGxGCG COVERED NOVEL HERC2P2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000415936.1 1 3.008712 KEEP 1 0 0 10 298 TT 0.992708 0.79441 0 - 18 60 627 0 0 60.755248 17 60 582 60 ENST00000560464.1 0.514286 0.800245 GOLGA6L2 283685 __UNKNOWN__ __UNKNOWN__ 15 23686777 23686777 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:23686777C>T ENST00000567107.1 - 8 897 c.845G>A c.(844-846)cGg>cAg p.R282Q GOLGA6L2_ENST00000345070.5_Missense_Mutation_p.R9Q|GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.R282Q Q8N9W4 GG6L2_HUMAN golgin A6 family-like 2 282 Glu-rich. NA breast(1)|endometrium(7) 8 ttcctgctcccgtagctcctc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK093463 15q11.2 2012-10-05 2010-02-12 ENSG00000174450 ENSG00000174450 283685 26695 protein-coding gene gene with protein product cancer/testis antigen 105 NA golgi autoantigen, golgin subfamily a, 6-like 2 NA Standard NM_182561 XM_002343322 NA Approved CT105, FLJ36144 uc021sfy.1 Q8N9W4 OTTHUMG00000176417 ENST00000567107.1:c.845G>A chr15.hg19:g.23686777C>T ENSP00000454407:p.Arg282Gln NA A1L301 hg19 0.02 2.004077 TCCxGTA COVERED . . . . . . . . . . c 2.550 -0.304316 0.05495 . . ENSG00000174450 ENST00000345070;ENST00000312015 T;T 0.50548 0.74;2.97 . . . . . . . . T 0.21761 0.0524 . . . 0.09310 N 1 B 0.24368 0.102 B 0.09377 0.004 T 0.22382 -1.0218 6 0.10377 T 0.69 . . . . . 282 Q8N9W4 GG6L2_HUMAN Q 9;282 ENSP00000344626:R9Q;ENSP00000307928:R282Q ENSP00000307928:R282Q R - 2 0 GOLGA6L2 21237870 0.002000 0.14202 0.008000 0.14137 0.008000 0.06430 -0.066000 0.11598 0.151000 0.19162 0.154000 0.16183 CGG NOVEL GOLGA6L2-002 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000431937.1 0 2.708443 KEEP 0 0 0 9 296 CC 0.99254 0.99154 0 - 36 60 1312 0 0 125.020757 42 60 1383 114 ENST00000567107.1 0.461538 0.998993 ATP10A 57194 __UNKNOWN__ __UNKNOWN__ 15 26003829 26003829 __UNKNOWN__ Intron SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:26003829G>C ENST00000356865.6 - 2 766 NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A NA NA ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) aactcattccgaccacctgct 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011138 CCDS32178.1 15q12 2010-04-20 2007-09-19 ENSG00000206190 ENSG00000206190 57194 ATPases / P-type 13542 protein-coding gene gene with protein product 605855 ATPase, Class V, type 10C, ATPase, Class V, type 10A ATP10C NA 11015572, 9628581 Standard NM_024490 NM_024490 NA Approved ATPVA, ATPVC, KIAA0566 uc010ayu.3 O60312 ENST00000356865.6:c.654+22336C>G chr15.hg19:g.26003829G>C NA Q4G0S9|Q969I4 hg19 CCDS32178.1 0.02 8.291801 TCCxACC COVERED NOVEL ATP10A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414830.1 6 19.553272 KEEP 158 0 0 65 1986 GG 1 1 0 - 11 21 334 0 0 20.465544 189 60 5900 556 ENST00000356865.6 0.055 1 HERC2 8924 __UNKNOWN__ __UNKNOWN__ 15 28566630 28566630 __UNKNOWN__ Intron SNP C C T rs7402161 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:28566630C>T ENST00000261609.7 - 2 78 HERC2_ENST00000563945.1_Intron NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 NA NA NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AACACATACGCTGAAGACCTA 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 7 10 9 NA NA NA 15 NA NA 28566630 1301 2261 3562 SO:0001627 intron_variant AF071172 CCDS10021.1 15q13 2012-02-23 2012-02-23 ENSG00000128731 ENSG00000128731 8924 4868 protein-coding gene gene with protein product 605837 hect domain and RLD 2 NA 9949213 Standard NM_004667 NM_004667 NA Approved jdf2, p528, D15F37S1 uc001zbj.4 O95714 OTTHUMG00000129251 ENST00000261609.7:c.31-20G>A chr15.hg19:g.28566630C>T NA hg19 CCDS10021.1 0.02 5.545688 ACGxTGA COVERED NOVEL HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251358.2 4 10.994718 KEEP 10 2 67 60 2099 CC 1 1 0 - 6 24 211 0 0 12.824514 156 60 5681 317 ENST00000261609.7 0.037037 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 28989968 28989968 __UNKNOWN__ IGR SNP G G T rs200083792 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:28989968G>T NA NA RP11-578F21.6 (6391 upstream) : WHAMMP2 (2948 downstream) NA NA NA GAATGGACCAGACGGGCTGGA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.28989968G>T NA hg19 0.02 1.640073 CCAxACG COVERED NOVEL 0 1 3.333106 KEEP 22 1 31 22 729 GG 0.997832 0.996036 0 4 27 135 0 0 8.654971 70 52 2523 131 0.054054 0.9982 GOLGA8R 101059918 __UNKNOWN__ __UNKNOWN__ 15 30700252 30700252 __UNKNOWN__ Intron SNP C C G rs373501815 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:30700252C>G ENST00000327271.10 - 11 786 GOLGA8R_ENST00000544495.1_Intron golgin A8 family, member R NA NA NA GCTGGACAGGCTGCCCTCTCC 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS61578.1, CCDS61575.1 15q13.2 2014-01-02 ENSG00000186399 ENSG00000186399 101059918 44407 protein-coding gene gene with protein product NA NA Standard NM_001282484 NM_001282484 NA Approved I6L899 OTTHUMG00000175646 ENST00000327271.10:c.787-57G>C chr15.hg19:g.30700252C>G NA hg19 0.02 1.88672 AGGxTGC COVERED NOVEL GOLGA8R-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000430706.1 0 3.546273 KEEP 1 1 32 23 804 CC 0.999909 0.999128 0 - 8 53 264 1 0 19.177275 69 60 2466 107 ENST00000327271.10 0.103896 0.999218 OTUD7A 161725 __UNKNOWN__ __UNKNOWN__ 15 31942073 31942073 __UNKNOWN__ Intron SNP T T C rs12904841 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:31942073T>C ENST00000307050.4 - 1 244 OTUD7A_ENST00000382902.1_Intron NM_130901.1 NP_570971.1 Q8TE49 OTU7A_HUMAN OTU deubiquitinase 7A NA NA protein K11-linked deubiquitination (GO:0035871) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) tgccacagagttggaggtgag 0.582 NA NA C||| 1835 0.366414 0.7557 0.2968 5008 , , NA 17657 0.25 NA 0.2276 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ430383 CCDS10026.1 15q13.1 2014-02-24 2014-02-24 2006-07-07 ENSG00000169918 ENSG00000169918 161725 OTU domain containing 20718 protein-coding gene gene with protein product 612024 chromosome 15 open reading frame 16, OTU domain containing 7, OTU domain containing 7A C15orf16, OTUD7 NA 23827681 Standard NM_130901 NM_130901 NA Approved CEZANNE2 uc001zfq.3 Q8TE49 OTTHUMG00000129275 ENST00000307050.4:c.151+5225A>G chr15.hg19:g.31942073T>C NA Q8IWK5 hg19 CCDS10026.1 0.02 -0.307035 GAGxTGG COVERED NOVEL OTUD7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251393.2 0 2.708216 KEEP 0 0 0 9 284 TT 0.99254 0.794276 0 - 3 27 119 0 0 8.885743 32 60 1092 50 ENST00000307050.4 0.085714 0.800245 KATNBL1 79768 __UNKNOWN__ __UNKNOWN__ 15 34445309 34445309 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:34445309A>G ENST00000256544.3 - 4 301 NM_024713.2 NP_078989.1 Q9H079 KTBL1_HUMAN katanin p80 subunit B-like 1 NA NA nucleolus (GO:0005730) NA AAAAAGAACCATATGAAATCC 0.259 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 23 26 25 NA NA NA 15 NA NA 34445309 2076 4206 6282 SO:0001627 intron_variant AL136908 CCDS10034.1 15q13.2 2012-09-27 2012-09-27 2012-09-27 ENSG00000134152 ENSG00000134152 79768 26199 protein-coding gene gene with protein product NA chromosome 15 open reading frame 29 C15orf29 NA 11230166 Standard NM_024713 NM_024713 NA Approved FLJ22557 uc001zhp.3 Q9H079 OTTHUMG00000129368 ENST00000256544.3:c.159-39T>C chr15.hg19:g.34445309A>G NA A8KAF6|Q2TAC0|Q9H670 hg19 CCDS10034.1 0.02 1.819261 ACCxTAT COVERED NOVEL KATNBL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251520.1 0 5.717222 KEEP 0 0 0 19 592 AA 0.99986 0.999815 0 - 45 60 1635 0 0 155.346855 54 60 1870 148 ENST00000256544.3 0.454545 0.999956 KATNBL1 79768 __UNKNOWN__ __UNKNOWN__ 15 34445311 34445311 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:34445311A>T ENST00000256544.3 - 4 301 NM_024713.2 NP_078989.1 Q9H079 KTBL1_HUMAN katanin p80 subunit B-like 1 NA NA nucleolus (GO:0005730) NA AAAGAACCATATGAAATCCTT 0.254 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 25 24 NA NA NA 15 NA NA 34445311 2060 4188 6248 SO:0001627 intron_variant AL136908 CCDS10034.1 15q13.2 2012-09-27 2012-09-27 2012-09-27 ENSG00000134152 ENSG00000134152 79768 26199 protein-coding gene gene with protein product NA chromosome 15 open reading frame 29 C15orf29 NA 11230166 Standard NM_024713 NM_024713 NA Approved FLJ22557 uc001zhp.3 Q9H079 OTTHUMG00000129368 ENST00000256544.3:c.159-41T>A chr15.hg19:g.34445311A>T NA A8KAF6|Q2TAC0|Q9H670 hg19 CCDS10034.1 0.02 1.710843 CATxTGA COVERED NOVEL KATNBL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251520.1 0 5.716966 KEEP 0 0 0 19 582 AA 0.99986 0.999822 0 - 46 60 1608 0 0 152.769133 54 60 1871 147 ENST00000256544.3 0.46 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 35375452 35375452 __UNKNOWN__ IGR SNP T T C rs200313061 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:35375452T>C NA NA RP11-463I20.2 (72060 upstream) : RP11-323I15.5 (15770 downstream) NA NA NA ATTTACTCATTGAAACACTCG 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.35375452T>C NA hg19 0.02 3.587276 CATxGAA COVERED NOVEL 0 13 5.884139 KEEP 21 2 64 42 1267 TT 1 1 0 5 49 177 0 0 10.615664 142 60 4853 222 0.034014 1 MGA 23269 __UNKNOWN__ __UNKNOWN__ 15 42035160 42035160 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:42035160A>G ENST00000570161.1 + 14 5002 c.5002A>G c.(5002-5004)Acc>Gcc p.T1668A MGA_ENST00000566586.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.T1668A|MGA_ENST00000219905.7_Missense_Mutation_p.T1668A|MGA_ENST00000545763.1_Intron O43451 MGA_HUMAN MGA, MAX dimerization protein 0 Glucoamylase. NA carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGGGATAACTACCCCTGTGGC 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 147 138 140 NA NA NA 15 NA NA 42035160 1930 4148 6078 SO:0001583 missense AB011090 CCDS55959.1, CCDS55960.1 15q15 2012-11-15 2012-11-15 ENSG00000174197 ENSG00000174197 23269 MAX dimerization proteins, T-boxes 14010 protein-coding gene gene with protein product NA MAX gene associated NA Standard NM_001164273.1 NM_001080541 NA Approved KIAA0518, MAD5, MXD5, FLJ12634 uc010ucy.2 Q8IWI9 ENST00000570161.1:c.5002A>G chr15.hg19:g.42035160A>G ENSP00000457035:p.Thr1668Ala NA Q0VAX6|Q75ME7|Q86UM5 hg19 CCDS55959.1 0.02 9.119307 ACTxCCC COVERED . . . . . . . . . . A 1.602 -0.526186 0.04141 . . ENSG00000174197 ENST00000219905;ENST00000389936 D;D 0.83506 -1.73;-1.73 4.86 1.16 0.20824 . 0.124175 0.36665 N 0.002464 T 0.60996 0.2312 N 0.14661 0.345 0.80722 D 1 B;B 0.02656 0.0;0.0 B;B 0.06405 0.001;0.002 T 0.38436 -0.9661 10 0.21540 T 0.41 . 2.0114 0.03489 0.5348:0.13:0.2087:0.1266 . 284;1668 B4DVS1;E7ENI0 .;. A 1668 ENSP00000219905:T1668A;ENSP00000374586:T1668A ENSP00000219905:T1668A T + 1 0 MGA 39822452 0.942000 0.31987 1.000000 0.80357 0.996000 0.88848 0.253000 0.18296 0.338000 0.23692 0.460000 0.39030 ACC NOVEL MGA-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000420229.1 0 12.33108 KEEP 0 0 0 41 1187 AA 1 1 0 + 45 60 1607 0 0 131.620441 198 60 6306 349 ENST00000570161.1 0.185185 1 PLA2G4E 123745 __UNKNOWN__ __UNKNOWN__ 15 42302340 42302340 __UNKNOWN__ Intron SNP C C G rs139522193 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:42302340C>G ENST00000399518.3 - 3 743 PLA2G4E_ENST00000413860.2_Missense_Mutation_p.G36R NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020) metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GCCCCCCCACCCCGGGCCTGG 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 67 63 NA NA NA 15 NA NA 42302340 1852 4081 5933 SO:0001627 intron_variant CCDS55962.1 15q15.1 2008-09-19 ENSG00000188089 ENSG00000188089 123745 3.1.1.4 24791 protein-coding gene gene with protein product NA NA 15866882 Standard NM_198442 NM_001206670 NA Approved FLJ45651 uc021sjp.1 Q3MJ16 OTTHUMG00000130371 ENST00000399518.3:c.257-2277G>C chr15.hg19:g.42302340C>G NA Q6ZSC0 hg19 CCDS55962.1 0.02 1.960258 CACxCCG COVERED . . . . . . . . . . C 9.381 1.073042 0.20147 . . ENSG00000188089 ENST00000413860 T 0.01548 4.78 3.51 -2.03 0.07365 . . . . . T 0.01189 0.0039 . . . 0.09310 N 1 B 0.06786 0.001 B 0.01281 0.0 T 0.48422 -0.9037 8 0.38643 T 0.18 . 0.5651 0.00686 0.3278:0.308:0.1605:0.2037 . 36 C9JK77 . R 36 ENSP00000413897:G36R ENSP00000413897:G36R G - 1 0 PLA2G4E 40089632 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.476000 0.02333 -0.398000 0.07679 -0.291000 0.09656 GGT NOVEL PLA2G4E-001 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252738.2 2 3.647777 KEEP 0 1 37 25 850 CC 0.999957 0.999444 0 - 9 60 265 0 0 18.495756 73 60 2465 129 ENST00000399518.3 0.109756 0.999487 HAUS2 55142 __UNKNOWN__ __UNKNOWN__ 15 42861470 42861470 __UNKNOWN__ 3'UTR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:42861470G>T ENST00000260372.3 + 0 3227 RP11-265N6.2_ENST00000561902.1_RNA NM_018097.2 NP_060567.1 Q9NVX0 HAUS2_HUMAN HAUS augmin-like complex, subunit 2 NA NA centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634) endometrium(1)|large_intestine(1)|lung(1) 3 CATCAGTTTTGTTTTTTGTTT 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001322 CCDS10090.1, CCDS45247.1 15q15.1 2014-02-20 2009-04-20 2009-04-20 ENSG00000137814 ENSG00000137814 55142 HAUS augmin-like complex subunits 25530 protein-coding gene gene with protein product 613429 chromosome 15 open reading frame 25, centrosomal protein 27kDa C15orf25, CEP27 NA 14702039, 14654843, 19427217 Standard NM_018097 NM_018097 NA Approved FLJ10460, HsT17025 uc001zqe.3 Q9NVX0 OTTHUMG00000130678 ENST00000260372.3:c.*2456G>T chr15.hg19:g.42861470G>T NA C9JH36|Q9H9B3 hg19 CCDS10090.1 0.02 1.416354 TTTxTTT COVERED NOVEL HAUS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253173.1 2 5.05402 KEEP 0 0 0 17 548 GG 0.999366 0.993792 0 + 7 60 134 0 0 7.95386 48 60 1658 91 ENST00000260372.3 0.127273 0.994422 FBN1 2200 __UNKNOWN__ __UNKNOWN__ 15 48936427 48936427 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:48936427T>C ENST00000316623.5 - 2 620 FBN1_ENST00000560355.1_3'UTR NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 NA NA extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCTACCAAGATGACCCCAAGG 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X63556 CCDS32232.1 15q21.1 2014-09-17 2006-04-25 ENSG00000166147 2200 3603 protein-coding gene gene with protein product Marfan syndrome 134797 fibrillin 1 (Marfan syndrome) FBN, MFS1, WMS NA 10036187, 12525539 Standard NM_000138 NA Approved MASS, OCTD, SGS uc001zwx.2 P35555 ENST00000316623.5:c.164+375A>G chr15.hg19:g.48936427T>C NA B2RUU0|D2JYH6|Q15972|Q75N87 hg19 CCDS32232.1 0.02 6.537099 AGAxGAC COVERED NOVEL FBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417355.1 1 15.644602 KEEP 0 0 0 52 1562 TT 1 1 0 - 60 60 1992 0 0 179.138437 114 60 3860 266 ENST00000316623.5 0.344828 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 50086786 50086786 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:50086786A>T NA NA RP11-353B9.1 (138357 upstream) : ATP8B4 (63648 downstream) NA NA NA AGAAGTGGGCAAAGAGGAAAC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.50086786A>T NA hg19 0.02 4.277118 GGCxAAG COVERED NOVEL 0 0 7.521115 KEEP 8 0 0 25 752 AA 0.999909 0.999909 0 65 60 2278 0 0 214.739813 83 60 2860 209 0.439189 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 50087827 50087827 __UNKNOWN__ IGR SNP A A C rs2660965 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:50087827A>C NA NA RP11-353B9.1 (139398 upstream) : ATP8B4 (62607 downstream) NA NA NA gttccagttcaagttccagtt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.50087827A>C NA hg19 0.02 16.320583 TTCxAGT COVERED NOVEL 0 3 4.5345 KEEP 1 4 137 63 1784 AA 1 1 0 14 40 510 0 0 32.309409 328 60 11226 553 0.040936 1 MAPK6 5597 __UNKNOWN__ __UNKNOWN__ 15 52356126 52356126 __UNKNOWN__ Silent SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:52356126T>C ENST00000261845.5 + 6 1902 c.1095T>C c.(1093-1095)caT>caC p.H365H CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 365 NA cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674) breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) TTTCAGAGCATGATTGGCCTG 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 102 98 99 NA NA NA 15 NA NA 52356126 2195 4293 6488 SO:0001819 synonymous_variant L77964 CCDS10147.1 15q21 2011-06-10 ENSG00000069956 ENSG00000069956 5597 Mitogen-activated protein kinase cascade / Kinases 6879 protein-coding gene gene with protein product 602904 PRKM6 NA 8875998 Standard NM_002748 NM_002748 NA Approved ERK3, p97MAPK, HsT17250 uc002abp.3 Q16659 OTTHUMG00000131891 ENST00000261845.5:c.1095T>C chr15.hg19:g.52356126T>C NA B2R945|B5BU65|Q68DH4|Q8IYN8 hg19 CCDS10147.1 0.02 8.900053 GCAxGAT COVERED NOVEL MAPK6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254841.2 0 18.940295 KEEP 0 0 0 63 1796 TT 1 1 0 + 82 60 2914 0 0 269.299742 129 60 4470 305 ENST00000261845.5 0.388626 1 POLR2M 81488 __UNKNOWN__ __UNKNOWN__ 15 58009404 58009404 __UNKNOWN__ 3'UTR SNP C C T rs2414518 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:58009404C>T ENST00000299638.3 + 0 3848 POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_3'UTR NM_015532.3 NP_056347.1 P0CAP2 GRL1A_HUMAN polymerase (RNA) II (DNA directed) polypeptide M NA NA maintenance of ER location (GO:0051685) DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635) DNA-directed RNA polymerase activity (GO:0003899) NA GTTTTTTCTACACTGTCAATA 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF326773 CCDS32252.1, CCDS42045.1 15q21.3 2013-01-21 2011-11-07 2011-11-07 ENSG00000255529 81488 RNA polymerase subunits 14862 protein-coding gene gene with protein product 606485 glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A GRINL1A NA 16769904, 22850672 Standard NM_015532 NA Approved Gdown, Gdown1, GCOM1 uc002aev.1 P0CAP2 OTTHUMG00000166486 ENST00000299638.3:c.*2527C>T chr15.hg19:g.58009404C>T NA Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6 hg19 CCDS32252.1 0.02 24.874088 CTAxACT COVERED NOVEL POLR2M-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255719.2 11 26.844916 KEEP 4 5 135 137 4702 CC 1 1 0 + 88 60 2934 1 0 222.991459 571 60 20763 963 ENST00000299638.3 0.133536 1 POLR2M 81488 __UNKNOWN__ __UNKNOWN__ 15 58009517 58009517 __UNKNOWN__ 3'UTR SNP C C T rs376544003 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:58009517C>T ENST00000299638.3 + 0 3961 POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_3'UTR NM_015532.3 NP_056347.1 P0CAP2 GRL1A_HUMAN polymerase (RNA) II (DNA directed) polypeptide M NA NA maintenance of ER location (GO:0051685) DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635) DNA-directed RNA polymerase activity (GO:0003899) NA taaaacagagcttaatgggta 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF326773 CCDS32252.1, CCDS42045.1 15q21.3 2013-01-21 2011-11-07 2011-11-07 ENSG00000255529 81488 RNA polymerase subunits 14862 protein-coding gene gene with protein product 606485 glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A GRINL1A NA 16769904, 22850672 Standard NM_015532 NA Approved Gdown, Gdown1, GCOM1 uc002aev.1 P0CAP2 OTTHUMG00000166486 ENST00000299638.3:c.*2640C>T chr15.hg19:g.58009517C>T NA Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6 hg19 CCDS32252.1 0.02 32.929279 GAGxTTA COVERED NOVEL POLR2M-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255719.2 10 16.322371 KEEP 20 10 327 169 5750 CC 1 1 0 + 141 51 4841 0 0 388.080581 678 60 24349 1183 ENST00000299638.3 0.172161 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 79047380 79047380 __UNKNOWN__ IGR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:79047380A>C NA NA RP11-160C18.4 (1665 upstream) : ADAMTS7 (4164 downstream) NA NA NA AGTGTTGGAAACCCCCCACCC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.79047380A>C NA hg19 0.02 2.268488 GAAxCCC COVERED NOVEL 0 2 4.510922 KEEP 0 0 0 15 457 AA 0.99649 0.984476 0 5 60 137 1 0 8.90818 55 60 1578 110 0.083333 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 83006868 83006868 __UNKNOWN__ IGR SNP C C T rs62009876 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:83006868C>T NA NA RP11-152F13.7 (32578 upstream) : RP13-996F3.4 (4510 downstream) NA NA NA CCGTGCTGTGCTTGTGGAGTC 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.83006868C>T NA hg19 0.02 3.953288 GTGxTTG COVERED NOVEL 0 3 3.310402 KEEP 10 0 0 11 379 CC 0.99254 0.99254 0 34 49 1178 0 0 101.979206 93 50 3388 165 0.267717 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 83124512 83124512 __UNKNOWN__ IGR SNP A A G rs553743278 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:83124512A>G NA NA GOLGA6L9 (16427 upstream) : RP13-996F3.3 (17205 downstream) NA NA NA CGCCTCTAGCATTGGGAATCA 0.502 NA NA a||| 592 0.118211 0.2466 0.1354 5008 , , NA 17987 0.1091 NA 0.0209 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.83124512A>G NA hg19 0.02 2.041036 AGCxTTG COVERED NOVEL 0 4 7.822686 KEEP 38 0 0 26 780 AA 0.997832 0.961684 0 4 24 146 0 0 10.421455 47 48 1611 146 0.078431 0.963774 FANCI 55215 __UNKNOWN__ __UNKNOWN__ 15 89835030 89835030 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:89835030A>G ENST00000310775.7 + 20 2078 FANCI_ENST00000300027.8_Intron NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I NA NA cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398) membrane (GO:0016020)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TTCCCTGTGAAACTCTCTTCC 0.353 NA NA Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) BC004277 CCDS10349.2, CCDS45346.1 15q26.1 2014-09-17 2007-05-03 2007-05-03 ENSG00000140525 ENSG00000140525 55215 Fanconi anemia, complementation groups 25568 protein-coding gene gene with protein product 611360 KIAA1794 KIAA1794 NA 14630800, 17460694, 17412408 Standard NM_018193 NM_001113378 NA Approved FLJ10719 uc010bnp.1 Q9NVI1 OTTHUMG00000132993 ENST00000310775.7:c.1992+85A>G chr15.hg19:g.89835030A>G NA A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96 hg19 CCDS45346.1 0.02 6.630808 TGAxACT COVERED NOVEL FANCI-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421140.1 0 2.406026 KEEP 0 0 0 8 219 AA 0.99257 0.99257 0 + 43 60 1522 0 0 133.410443 109 60 3588 162 ENST00000310775.7 0.282895 1 SV2B 9899 __UNKNOWN__ __UNKNOWN__ 15 91835687 91835687 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:91835687A>G ENST00000394232.1 + 13 2427 c.1957A>G c.(1957-1959)Aaa>Gaa p.K653E SV2B_ENST00000330276.4_Missense_Mutation_p.K653E|SV2B_ENST00000545111.2_Missense_Mutation_p.K502E NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 653 NA neurotransmitter transport (GO:0006836) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021) transmembrane transporter activity (GO:0022857) NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TGGGATAACCAAAGTGGTCCC 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 146 135 139 NA NA NA 15 NA NA 91835687 2198 4298 6496 SO:0001583 missense AB018278 CCDS10370.1, CCDS53972.1 15q26.1 2005-01-10 ENSG00000185518 ENSG00000185518 9899 16874 protein-coding gene gene with protein product 185861 NA 9872452, 7681585 Standard NM_014848 NM_014848 NA Approved KIAA0735, HsT19680 uc002bqv.3 Q7L1I2 OTTHUMG00000149833 ENST00000394232.1:c.1957A>G chr15.hg19:g.91835687A>G ENSP00000377779:p.Lys653Glu NA B4DH30|C6G489|O94840|Q6IAR8 hg19 CCDS10370.1 0.02 6.519343 ACCxAAG COVERED . . . . . . . . . . . 27.8 4.862866 0.91511 . . ENSG00000185518 ENST00000545111;ENST00000394232;ENST00000330276 T;T;T 0.56444 0.46;0.46;0.46 6.12 5.0 0.66597 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.082208 0.85682 D 0.000000 T 0.65026 0.2652 L 0.54323 1.7 0.54753 D 0.999984 D 0.89917 1.0 D 0.97110 1.0 T 0.61569 -0.7036 10 0.29301 T 0.29 -9.9431 11.4113 0.49927 0.9292:0.0:0.0708:0.0 . 653 Q7L1I2 SV2B_HUMAN E 502;653;653 ENSP00000443243:K502E;ENSP00000377779:K653E;ENSP00000332818:K653E ENSP00000332818:K653E K + 1 0 SV2B 89636691 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 6.071000 0.71229 1.140000 0.42260 0.524000 0.50904 AAA NOVEL SV2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313494.3 1 4.211679 KEEP 0 0 0 14 410 AA 0.995343 0.995343 0 + 54 60 1842 0 0 162.839863 122 70 4259 229 ENST00000394232.1 0.306818 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 96067869 96067869 __UNKNOWN__ IGR SNP T T G rs200497469 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:96067869T>G NA NA LINC00924 (16793 upstream) : RNU2-3P (221163 downstream) NA NA NA ttcttcttcttcttcttcttc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.96067869T>G NA hg19 0.02 -0.08767 TCTxCTT UNCOVERED NOVEL 0 0 3.009016 KEEP 0 0 0 10 308 TT 0.992708 0.098994 0 3 60 92 0 0 7.976622 7 60 241 30 0.3 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 96067875 96067875 __UNKNOWN__ IGR SNP T T G rs71135583|rs111909224|rs543694457 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:96067875T>G NA NA LINC00924 (16799 upstream) : RNU2-3P (221157 downstream) NA NA NA ttcttcttcttcttctgcttc 0.423 NA NA G||| 1382 0.275958 0.2988 0.2478 5008 , , NA 17333 0.1964 NA 0.3022 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.96067875T>G NA hg19 0.02 -0.086992 TCTxCTT UNCOVERED NOVEL 0 0 3.00885 KEEP 0 0 0 10 302 TT 0.992708 0.098994 0 5 60 156 1 1 14.913515 5 60 164 26 0.5 0.099721 DNM1P47 100216544 __UNKNOWN__ __UNKNOWN__ 15 102294536 102294536 __UNKNOWN__ RNA SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:102294536T>A ENST00000561463.1 + 0 2582 DNM1 pseudogene 47 NA NA NA ACCAAGGAGTTCATCTTCTCG 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AJ576276 15q26.3 2013-04-25 ENSG00000259660 ENSG00000259660 100216544 35200 pseudogene pseudogene NA DNM1DN14@ NA Standard NG_009149 NG_009149 NA Approved DNM1DN14-3 OTTHUMG00000172265 ENST00000561463.1: chr15.hg19:g.102294536T>A NA hg19 0.02 -0.262741 AGTxCAT UNCOVERED NOVEL DNM1P47-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417589.1 0 2.405321 KEEP 37 0 0 8 223 TT 0 0 0 + 5 40 162 0 0 12.720794 25 40 804 82 ENST00000561463.1 0.166667 0.693668 DNM1P47 100216544 __UNKNOWN__ __UNKNOWN__ 15 102312095 102312095 __UNKNOWN__ RNA SNP G G T rs199873857 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr15:102312095G>T ENST00000561463.1 + 0 13463 DNM1 pseudogene 47 NA NA NA GTGGGGATCCGAGTGCAGTGA 0.607 NA NA .||| 734 0.146565 0.2685 0.0879 5008 , , NA 13168 0.0585 NA 0.0746 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AJ576276 15q26.3 2013-04-25 ENSG00000259660 ENSG00000259660 100216544 35200 pseudogene pseudogene NA DNM1DN14@ NA Standard NG_009149 NG_009149 NA Approved DNM1DN14-3 OTTHUMG00000172265 ENST00000561463.1: chr15.hg19:g.102312095G>T NA hg19 0.02 8.982582 TCCxAGT COVERED NOVEL DNM1P47-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417589.1 0 7.8239 KEEP 15 0 0 26 837 GG 0.999892 0.999892 0 + 44 50 1551 0 0 129.387782 165 50 5554 310 ENST00000561463.1 0.210526 1 CORO7 79585 __UNKNOWN__ __UNKNOWN__ 16 4408542 4408542 __UNKNOWN__ Intron SNP G G A rs533312175 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:4408542G>A ENST00000251166.4 - 24 2486 CORO7_ENST00000537233.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572274.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron NM_024535.4 NP_078811.3 P57737 CORO7_HUMAN coronin 7 NA NA actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) actin binding (GO:0003779) breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 GGCTGGGCACGTAGTCTCCCC 0.627 NA NA G||| 1 0.000199681 0 0 5008 , , NA 17136 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097238 CCDS10513.1, CCDS55982.1, CCDS58417.1 16p13.3 2013-01-10 ENSG00000262246 ENSG00000262246 79585 Coronins, WD repeat domain containing 26161 protein-coding gene gene with protein product 611668 NA 15327992 Standard NM_024535 NM_024535 NA Approved FLJ22021 P57737 OTTHUMG00000129465 ENST00000251166.4:c.2341-58C>T chr16.hg19:g.4408542G>A NA B4DFD6|B4DL18|I3L416|Q17RK4 hg19 CCDS10513.1 0.02 -0.33333 CACxTAG COVERED NOVEL CORO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251628.2 0 2.341481 KEEP 0 1 29 18 606 GG 0.99986 0.851864 0 - 18 60 597 0 0 56.870441 20 60 693 60 ENST00000251166.4 0.473684 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 10933467 10933467 __UNKNOWN__ IGR SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:10933467A>T NA NA TVP23A (20825 upstream) : RP11-876N24.2 (25303 downstream) NA NA NA CACCAAAATGATTTTTATTTC 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.10933467A>T NA hg19 0.02 0.960767 ATGxTTT COVERED NOVEL 0 2 2.404056 KEEP 0 0 0 8 225 AA 0.99254 0.990453 0 10 60 153 0 0 7.822347 60 60 1911 99 0.142857 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 10933473 10933473 __UNKNOWN__ IGR SNP A A T rs370153918 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:10933473A>T NA NA TVP23A (20831 upstream) : RP11-876N24.2 (25297 downstream) NA NA NA AATGATTTTTATTTCGTGTTT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.10933473A>T NA hg19 0.02 0.89145 TTTxTTT COVERED NOVEL 0 2 3.006797 KEEP 0 0 0 10 276 AA 0.992708 0.99203 0 10 60 184 0 0 10.562335 70 60 2221 106 0.125 0.999317 PRM1 5619 __UNKNOWN__ __UNKNOWN__ 16 11375134 11375134 __UNKNOWN__ 5'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:11375134C>A ENST00000312511.3 - 0 73 RMI2_ENST00000572173.1_Intron NM_002761.2 NP_002752.1 P04553 HSP1_HUMAN protamine 1 NA NA cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) nucleoplasm (GO:0005654)|nucleosome (GO:0000786) DNA binding (GO:0003677) p.0?(1) large_intestine(2)|skin(2) 4 CAGAGCAGGGCACCACCTTGG 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Whole gene deletion(1) haematopoietic_and_lymphoid_tissue(1) 42 37 39 NA NA NA 16 NA NA 11375134 2197 4300 6497 SO:0001623 5_prime_UTR_variant CCDS10547.1 16p13.2 2009-08-06 ENSG00000175646 ENSG00000175646 5619 9447 protein-coding gene gene with protein product cancer/testis antigen family 94, member 1 182880 NA Standard NM_002761 NA Approved CT94.1 uc002dav.3 P04553 OTTHUMG00000090521 ENST00000312511.3:c.-39G>T chr16.hg19:g.11375134C>A NA hg19 CCDS10547.1 0.02 3.935282 GGGxACC COVERED NOVEL PRM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207010.1 2 7.81815 KEEP 0 0 0 26 845 CC 0.999957 0.999955 0 - 42 60 1431 0 0 129.563631 77 60 2730 171 ENST00000312511.3 0.352941 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 31987302 31987302 __UNKNOWN__ IGR SNP C C A rs2077134 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:31987302C>A NA NA ZNF267 (58634 upstream) : RP11-1166P10.1 (5888 downstream) NA NA NA CCCCACACCCCCAGCCCCACC 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.31987302C>A NA hg19 0.02 1.804164 CCCxCAG COVERED NOVEL 0 0 3.912589 KEEP 3 0 0 13 453 CC 0.993634 0.992749 0 9 49 281 0 0 20.345333 68 60 2387 133 0.116883 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 31987322 31987322 __UNKNOWN__ IGR SNP G G A rs74331035 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:31987322G>A NA NA ZNF267 (58654 upstream) : RP11-1166P10.1 (5868 downstream) NA NA NA CCTTTCCCTCGCTGCCCAGTC 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.31987322G>A NA hg19 0.02 1.856693 CTCxCTG COVERED NOVEL 0 0 2.708333 KEEP 3 0 0 9 288 CG 0.99254 0.990111 0 8 49 255 0 0 18.466485 63 60 2179 105 0.112676 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32442253 32442253 __UNKNOWN__ IGR SNP T T A rs78532111 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:32442253T>A NA NA RP11-17M15.2 (120377 upstream) : RP11-626K17.3 (23679 downstream) NA NA NA AGTGTCATATTTTCATATTGC 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.32442253T>A NA hg19 0.02 7.566151 TATxTTC COVERED NOVEL 0 2 9.626271 KEEP 26 0 0 32 941 TT 0.999988 0.999988 0 28 40 935 0 0 71.245399 179 60 6231 317 0.135266 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32442392 32442392 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:32442392T>G NA NA RP11-17M15.2 (120516 upstream) : RP11-626K17.3 (23540 downstream) NA NA NA GATCAGCACTTTTTGAGTACT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.32442392T>G NA hg19 0.02 13.941588 ACTxTTT COVERED NOVEL 0 10 5.585954 KEEP 22 2 70 43 1325 TT 1 1 0 15 37 546 0 0 36.837139 246 60 8413 409 0.057471 1 SLC6A10P 386757 __UNKNOWN__ __UNKNOWN__ 16 32890950 32890950 __UNKNOWN__ RNA SNP A A G rs151263854 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:32890950A>G ENST00000330048.5 - 0 3016 NR_003083.2 solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene NA NA NA ATACACCCAGACCACCACCAC 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U41163 16p11.2 2013-07-19 2013-07-19 2013-07-19 ENSG00000214617 ENSG00000214617 386757 Solute carriers 11043 pseudogene pseudogene creatine transporter-2 NA solute carrier family 6 (neurotransmitter transporter, creatine), member 10 SLC6A10 NA 9154116 Standard NR_003083 NA Approved CT-2 uc002edh.1 OTTHUMG00000132481 ENST00000330048.5: chr16.hg19:g.32890950A>G NA hg19 0.02 5.931914 CAGxCCA COVERED NOVEL SLC6A10P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000432081.2 0 6.918318 KEEP 8 0 0 23 673 AA 0.999892 0.999892 0 - 12 27 430 0 0 29.744921 163 60 5235 251 ENST00000330048.5 0.068571 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33388635 33388635 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33388635G>A NA NA RP11-23E10.4 (21822 upstream) : BMS1P8 (108527 downstream) NA NA NA AGTCAgctgagcgcagtggct 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33388635G>A NA hg19 0.02 -0.29822 TGAxCGC COVERED NOVEL 0 2 2.708825 KEEP 0 0 0 9 318 GG 0.99254 0.775233 0 4 27 114 0 0 7.971245 30 60 1094 46 0.117647 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33390933 33390933 __UNKNOWN__ IGR SNP A A T rs357995 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33390933A>T NA NA RP11-23E10.4 (24120 upstream) : BMS1P8 (106229 downstream) NA NA NA aaaacaagccaggcatggtgc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33390933A>T NA hg19 0.02 -0.035092 GCCxGGC UNCOVERED NOVEL 0 4 2.407186 KEEP 0 0 0 8 244 AA 0.99254 0.019833 0 3 60 107 0 0 11.154261 1 51 35 13 0.75 0.019982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33392008 33392008 __UNKNOWN__ IGR SNP A A G rs56739713 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33392008A>G NA NA RP11-23E10.4 (25195 upstream) : BMS1P8 (105154 downstream) NA NA NA tcctgggctcaggtgatattt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33392008A>G NA hg19 0.02 5.186117 CTCxGGT COVERED NOVEL 0 5 2.641315 KEEP 1 1 32 20 608 AA 0.999869 0.999869 0 18 60 565 0 0 40.211431 151 60 5155 209 0.106509 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33401066 33401066 __UNKNOWN__ IGR SNP C C T rs78444537 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33401066C>T NA NA RP11-23E10.4 (34253 upstream) : BMS1P8 (96096 downstream) NA NA NA gcaacctctgcctcctgggct 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33401066C>T NA hg19 0.02 -0.078959 CTGxCTC UNCOVERED NOVEL 0 2 3.009734 KEEP 0 0 0 10 343 CC 0.992708 0.076772 0 3 60 105 0 0 9.443406 6 55 221 26 0.333333 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33401463 33401463 __UNKNOWN__ IGR SNP C C T rs4887702 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33401463C>T NA NA RP11-23E10.4 (34650 upstream) : BMS1P8 (95699 downstream) NA NA NA CCCAAGAAAGCGTGTTTGAGA 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33401463C>T NA hg19 0.02 10.189469 AAGxGTG COVERED NOVEL 0 2 2.240301 KEEP 0 1 30 18 576 CC 0.99986 0.99986 0 50 60 1688 0 0 137.702028 207 60 6635 328 0.194553 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33401573 33401573 __UNKNOWN__ IGR SNP G G A rs11490451 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33401573G>A NA NA RP11-23E10.4 (34760 upstream) : BMS1P8 (95589 downstream) NA NA NA GACTTTGGGGGGTGGGCAGGA 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33401573G>A NA hg19 0.02 3.959911 GGGxGTG COVERED NOVEL 0 1 3.309933 KEEP 0 0 0 11 363 GG 0.993072 0.993072 0 24 60 851 0 0 68.864087 114 60 3961 195 0.173913 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33401596 33401596 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33401596G>A NA NA RP11-23E10.4 (34783 upstream) : BMS1P8 (95566 downstream) NA NA NA TGCTGGCACAGGAGCACTGGA 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33401596G>A NA hg19 0.02 3.806663 ACAxGAG COVERED NOVEL 0 0 2.407842 KEEP 0 0 0 8 278 GG 0.99257 0.992569 0 6 33 202 0 0 12.957967 104 60 3682 154 0.054545 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33404618 33404618 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33404618G>A NA NA RP11-23E10.4 (37805 upstream) : BMS1P8 (92544 downstream) NA NA NA CTGTGGCCAGGTCCATGAGAG 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33404618G>A NA hg19 0.02 3.640491 CAGxTCC COVERED NOVEL 0 0 4.514078 KEEP 0 0 0 15 502 GG 0.99649 0.99649 0 6 37 205 0 0 12.596149 135 60 4694 184 0.042553 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33410830 33410830 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33410830G>A NA NA RP11-23E10.4 (44017 upstream) : BMS1P8 (86332 downstream) NA NA NA catgtgggctgctataacaaa 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33410830G>A NA hg19 0.02 13.874442 GCTxCTA COVERED NOVEL 0 3 4.648214 KEEP 6 1 27 25 843 GG 0.999931 0.999931 0 15 57 505 0 0 29.507125 410 60 14373 499 0.035294 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33500743 33500743 __UNKNOWN__ IGR SNP T T C rs3888934 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33500743T>C NA NA BMS1P8 (1651 upstream) : IGHV3OR16-12 (104487 downstream) NA NA NA CACAGAGCCTTAGGCACCAAA 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33500743T>C NA hg19 0.02 2.21738 CCTxAGG COVERED NOVEL 0 0 2.705891 KEEP 0 0 0 9 236 TT 0.99254 0.98629 0 12 60 420 0 0 34.314093 52 60 1789 77 0.1875 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33500839 33500839 __UNKNOWN__ IGR SNP C C T rs200227890 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33500839C>T NA NA BMS1P8 (1747 upstream) : IGHV3OR16-12 (104391 downstream) NA NA NA TAATGGGGGTCAAAGTTCTGC 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33500839C>T NA hg19 0.02 10.032303 GGTxAAA COVERED NOVEL 0 3 2.843332 KEEP 6 1 30 20 678 CC 0.999869 0.999869 0 24 60 816 0 0 59.375763 212 60 7247 322 0.101695 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33542675 33542675 __UNKNOWN__ IGR SNP A A G rs139797693 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33542675A>G NA NA BMS1P8 (43583 upstream) : IGHV3OR16-12 (62555 downstream) NA NA NA taaaaaaaaaaTCATGTAggc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33542675A>G NA hg19 0.02 -0.061409 AAAxTCA UNCOVERED NOVEL 0 3 2.70804 KEEP 1 0 0 9 278 AA 0.99257 0.043461 0 2 45 71 0 0 6.395655 4 60 138 23 0.333333 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33730784 33730784 __UNKNOWN__ IGR SNP T T C rs62039223 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33730784T>C NA NA RP11-812E19.7 (69453 upstream) : ARHGAP23P1 (8112 downstream) NA NA NA gggcTCCCGCTGCTCCTTGCT 0.741 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33730784T>C NA hg19 0.02 4.02083 CGCxGCT COVERED NOVEL 0 3 5.11478 KEEP 24 0 0 17 512 TT 0.99649 0.996482 0 5 49 174 0 0 10.978904 104 50 3541 165 0.045872 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33900423 33900423 __UNKNOWN__ IGR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33900423A>C NA NA RP11-812E19.3 (122679 upstream) : AC136932.2 (45525 downstream) NA NA NA ctcagctcacATTTCATTTCA 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33900423A>C NA hg19 0.02 1.763534 CACxTTT COVERED NOVEL 0 94 13.070392 KEEP 60 1 18 50 1502 AA 0.999998 0.999928 0 4 25 142 1 0 14.449665 2 41 69 232 0.666667 0.99993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33939927 33939927 __UNKNOWN__ IGR SNP A A T rs694592 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33939927A>T NA NA RP11-812E19.3 (162183 upstream) : AC136932.2 (6021 downstream) NA NA NA GGAAAAGCCAATCTTCAAATA 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33939927A>T NA hg19 0.02 3.75955 CCAxTCT UNCOVERED NOVEL 0 13 2.40554 KEEP 1 0 0 8 227 AA 0 0 0 8 60 278 0 0 20.019282 79 60 2788 138 0.091954 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940261 33940261 __UNKNOWN__ IGR SNP C C G rs575959344 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33940261C>G NA NA RP11-812E19.3 (162517 upstream) : AC136932.2 (5687 downstream) NA NA NA ACCCCAATTCCACCATCCCAG 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33940261C>G NA hg19 0.02 22.044196 TTCxACC COVERED NOVEL 0 6 6.019403 KEEP 4 0 0 20 692 CC 0.999863 0.999863 0 21 60 685 1 0 44.617034 309 60 10517 670 0.063636 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940308 33940308 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33940308G>A NA NA RP11-812E19.3 (162564 upstream) : AC136932.2 (5640 downstream) NA NA NA CATTGATACTGTCTTTCACAT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33940308G>A NA hg19 0.02 18.906415 ACTxTCT COVERED NOVEL 0 7 3.912283 KEEP 0 0 0 13 437 GG 0.994391 0.994391 0 28 60 941 0 0 62.114166 416 60 14897 594 0.063063 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940348 33940348 __UNKNOWN__ IGR SNP A A G rs146689645 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33940348A>G NA NA RP11-812E19.3 (162604 upstream) : AC136932.2 (5600 downstream) NA NA NA ACTTGGAACAATTTCATGCTT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33940348A>G NA hg19 0.02 21.875402 ACAxTTT COVERED NOVEL 0 6 5.989393 KEEP 0 0 0 20 566 AA 0.999863 0.999863 0 23 60 843 0 0 57.727288 352 60 12138 547 0.061333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940742 33940742 __UNKNOWN__ IGR SNP A A G rs78622517 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33940742A>G NA NA RP11-812E19.3 (162998 upstream) : AC136932.2 (5206 downstream) NA NA NA GATATTAAGTAAAAAATGAAA 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33940742A>G NA hg19 0.02 38.352271 AGTxAAA COVERED NOVEL 0 5 2.706608 KEEP 0 3 100 44 1251 AA 1 1 0 20 60 684 0 0 45.121806 320 60 10582 1014 0.058824 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941226 33941226 __UNKNOWN__ IGR SNP G G T rs78973584 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33941226G>T NA NA RP11-812E19.3 (163482 upstream) : AC136932.2 (4722 downstream) NA NA NA AAATGTAAAGGGTCCATATAA 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33941226G>T NA hg19 0.02 6.064033 AAGxGTC COVERED NOVEL 0 4 3.310504 KEEP 14 0 0 11 364 GG 0.99254 0.99254 0 14 60 456 0 0 33.360337 109 60 3755 237 0.113821 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33942005 33942005 __UNKNOWN__ IGR SNP C C T rs150115870 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33942005C>T NA NA RP11-812E19.3 (164261 upstream) : AC136932.2 (3943 downstream) NA NA NA ATTTTAGAGACAAATAACTTA 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33942005C>T NA hg19 0.02 3.695844 AGAxAAA UNCOVERED NOVEL 0 1 2.407736 KEEP 46 0 0 8 275 CC 0 0 0 20 42 694 0 0 55.079491 105 60 3798 266 0.16 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33942063 33942063 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33942063T>C NA NA RP11-812E19.3 (164319 upstream) : AC136932.2 (3885 downstream) NA NA NA GTCTTGAAAATGTAGCATTTG 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33942063T>C NA hg19 0.02 6.199185 AAAxGTA COVERED NOVEL 0 2 3.910689 KEEP 49 0 0 13 400 TT 0.992708 0.992708 0 7 21 252 0 0 16.21938 145 60 5116 296 0.046053 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33945663 33945663 __UNKNOWN__ IGR SNP A A G rs28530565|rs142537042 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33945663A>G NA NA RP11-812E19.3 (167919 upstream) : AC136932.2 (285 downstream) NA NA NA agaaaaaAAGAAaaaagattg 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33945663A>G NA hg19 0.02 -0.112683 AAGxAAA COVERED NOVEL 0 11 3.309091 KEEP 0 0 0 11 319 AA 0.993072 0.259157 0 2 39 74 2 0 6.422375 6 60 173 42 0.25 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33946398 33946398 __UNKNOWN__ IGR SNP G G A rs143417285 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33946398G>A NA NA AC136932.2 (377 upstream) : LINC00273 (14653 downstream) NA NA NA ttctactgtggataaaatgct 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33946398G>A NA hg19 0.02 4.184646 GTGxATA COVERED NOVEL 0 7 7.823722 KEEP 1 0 0 26 870 GG 0.999957 0.999952 0 7 60 242 0 0 17.947868 57 60 2077 169 0.109375 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33950964 33950964 __UNKNOWN__ IGR SNP A A G rs75103390 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33950964A>G NA NA AC136932.2 (4943 upstream) : LINC00273 (10087 downstream) NA NA NA TTATTATaagattagttgtgc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33950964A>G NA hg19 0.02 2.10036 AAGxTTA COVERED NOVEL 0 3 3.310307 KEEP 5 0 0 11 353 AA 0.992708 0.987827 0 3 60 103 0 0 9.655053 4 60 134 88 0.428571 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33952264 33952264 __UNKNOWN__ IGR SNP C C T rs113091106 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33952264C>T NA NA AC136932.2 (6243 upstream) : LINC00273 (8787 downstream) NA NA NA AAGCCCTATTCCCTTCCTGGA 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33952264C>T NA hg19 0.02 1.979612 ATTxCCT COVERED NOVEL 0 0 2.70874 KEEP 7 0 0 9 310 CC 0.99257 0.978827 0 3 60 102 0 0 9.143302 6 60 220 82 0.333333 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33957574 33957574 __UNKNOWN__ IGR SNP C C A rs76193842 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:33957574C>A NA NA AC136932.2 (11553 upstream) : LINC00273 (3477 downstream) NA NA NA TCAAAGCACACCTCGGCCACC 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33957574C>A NA hg19 0.02 5.442965 ACAxCTC COVERED NOVEL 0 32 11.128182 KEEP 13 0 0 37 1205 CC 0.999997 0.999997 0 5 60 169 0 0 13.758746 21 60 720 229 0.192308 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 35239629 35239629 __UNKNOWN__ IGR SNP T T C rs558867701 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:35239629T>C NA NA AC116553.1 (103176 upstream) : None (None downstream) NA NA NA aaaaaggaaatctcttcccat 0.348 NA NA .||| 1 0.000199681 0 0.0014 5008 , , NA 19895 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.35239629T>C NA hg19 0.02 6.043913 AAAxCTC COVERED NOVEL 0 60 10.06237 KEEP 45 1 33 45 1362 TT 0.999997 0.999997 0 4 40 144 0 0 13.182642 7 40 217 334 0.363636 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46386457 46386457 __UNKNOWN__ IGR SNP T T C rs4640368 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46386457T>C NA NA None (None upstream) : ANKRD26P1 (116795 downstream) NA NA NA cattcgttaatgcctttcgag 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46386457T>C NA hg19 0.02 -0.342128 TAAxGCC UNCOVERED NOVEL 0 3 2.707867 KEEP 9 0 0 9 271 TT 0 0 0 3 40 102 0 0 7.075366 35 50 1205 67 0.078947 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46386883 46386883 __UNKNOWN__ IGR SNP C C G rs6422017|rs4249969 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46386883C>G NA NA None (None upstream) : ANKRD26P1 (116369 downstream) NA NA NA agattctactcgaagatgatt 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46386883C>G NA hg19 0.02 2.322807 ACTxGAA UNCOVERED NOVEL 0 12 6.018951 KEEP 63 0 0 20 656 CC 0 0 0 11 49 410 0 0 35.030901 37 50 1212 144 0.229167 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46388289 46388289 __UNKNOWN__ IGR SNP G G A rs6598671 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46388289G>A NA NA None (None upstream) : ANKRD26P1 (114963 downstream) NA NA NA gattccattcgattccactcg 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46388289G>A NA hg19 0.02 -0.289455 TTCxATT COVERED NOVEL 0 6 4.814182 KEEP 33 0 0 16 494 GG 0.99254 0.755211 0 7 40 240 0 0 20.149627 24 40 738 83 0.225806 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46388362 46388362 __UNKNOWN__ IGR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46388362A>C NA NA None (None upstream) : ANKRD26P1 (114890 downstream) NA NA NA attcaattcaagtccattcga 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46388362A>C NA hg19 0.02 1.760114 TCAxGTC COVERED NOVEL 0 13 3.646092 KEEP 16 1 34 24 768 AA 0.999869 0.999428 0 5 60 177 0 0 12.051382 72 60 2582 154 0.064935 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46389269 46389269 __UNKNOWN__ IGR SNP C C T rs9745502 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46389269C>T NA NA None (None upstream) : ANKRD26P1 (113983 downstream) NA NA NA atgatgattccattcaactcc 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46389269C>T NA hg19 0.02 -0.324576 TTCxATT UNCOVERED NOVEL 0 5 2.706786 KEEP 6 0 0 9 283 CC 0 0 0 3 60 108 0 0 7.747915 33 60 1160 56 0.083333 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46389270 46389270 __UNKNOWN__ IGR SNP A A T rs9746855 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46389270A>T NA NA None (None upstream) : ANKRD26P1 (113982 downstream) NA NA NA tgatgattccattcaactcca 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46389270A>T NA hg19 0.02 -0.315781 TCCxTTC UNCOVERED NOVEL 0 4 2.706713 KEEP 6 0 0 9 257 AA 0 0 0 3 60 106 0 0 7.548185 33 60 1106 55 0.083333 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46389610 46389610 __UNKNOWN__ IGR SNP A A T rs4250013 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46389610A>T NA NA None (None upstream) : ANKRD26P1 (113642 downstream) NA NA NA ttccatgatgattctatttga 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46389610A>T NA hg19 0.02 3.719037 ATGxTTC COVERED NOVEL 0 19 8.726048 KEEP 26 0 0 29 907 AA 0.999859 0.999859 0 6 45 209 0 0 13.250275 122 48 4174 222 0.046875 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46389681 46389681 __UNKNOWN__ IGR SNP A A C rs4265986 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46389681A>C NA NA None (None upstream) : ANKRD26P1 (113571 downstream) NA NA NA gattccattcaaagatgattc 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46389681A>C NA hg19 0.02 3.687199 TTCxAAG COVERED NOVEL 0 16 8.421713 KEEP 53 0 0 28 822 AA 0.994391 0.994391 0 5 40 179 0 0 10.907299 136 46 4695 259 0.035461 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46389753 46389753 __UNKNOWN__ IGR SNP T T G rs9652748 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46389753T>G NA NA None (None upstream) : ANKRD26P1 (113499 downstream) NA NA NA ttcatgtcgatttggtgattc 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46389753T>G NA hg19 0.02 2.164734 CGAxTTG UNCOVERED NOVEL 0 12 7.521343 KEEP 64 0 0 25 754 TT 0 0 0 4 23 146 0 0 9.852076 66 40 2298 166 0.057143 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46390940 46390940 __UNKNOWN__ IGR SNP A A G rs4366726|rs59343501 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46390940A>G NA NA None (None upstream) : ANKRD26P1 (112312 downstream) NA NA NA ccattagatgattccattgga 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46390940A>G NA hg19 0.02 -0.429865 ATGxTTC COVERED NOVEL 0 10 2.440886 KEEP 32 1 37 21 620 AA 0.994391 0.954475 0 3 49 107 0 0 7.346164 42 50 1454 110 0.066667 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391242 46391242 __UNKNOWN__ IGR SNP C C A rs4246376|rs61410951 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46391242C>A NA NA None (None upstream) : ANKRD26P1 (112010 downstream) NA NA NA tgattccattcaatgatgatt 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46391242C>A NA hg19 0.02 1.869005 ATTxAAT COVERED NOVEL 0 17 4.447364 KEEP 45 1 26 24 799 CC 0.99257 0.991982 0 6 49 213 0 0 15.015457 71 50 2544 160 0.077922 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391294 46391294 __UNKNOWN__ IGR SNP T T A rs9646365|rs71245402 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46391294T>A NA NA None (None upstream) : ANKRD26P1 (111958 downstream) NA NA NA ttccattcaatgattatcccc 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46391294T>A NA hg19 0.02 1.681689 CAAxGAT COVERED NOVEL 0 10 9.02448 KEEP 21 0 0 30 887 TT 0.999931 0.999812 0 4 49 142 0 0 9.026112 85 60 2887 160 0.044944 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391298 46391298 __UNKNOWN__ IGR SNP T T C rs4605190 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46391298T>C NA NA None (None upstream) : ANKRD26P1 (111954 downstream) NA NA NA attcaatgattatccccttag 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46391298T>C NA hg19 0.02 1.728266 GATxATC COVERED NOVEL 0 10 9.024302 KEEP 18 0 0 30 878 TT 0.999988 0.999936 0 5 60 184 0 0 12.304759 89 60 3025 163 0.053191 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391390 46391390 __UNKNOWN__ IGR SNP G G A rs4250396 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46391390G>A NA NA None (None upstream) : ANKRD26P1 (111862 downstream) NA NA NA aagtccatttgatgattcctt 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46391390G>A NA hg19 0.02 5.795719 TTTxATG COVERED NOVEL 0 18 17.154271 KEEP 45 0 0 57 1931 GG 1 1 0 7 49 245 0 0 15.211771 161 60 5819 320 0.041667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391448 46391448 __UNKNOWN__ IGR SNP A A T rs4246387 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46391448A>T NA NA None (None upstream) : ANKRD26P1 (111804 downstream) NA NA NA cgatgattccattcgattgca 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46391448A>T NA hg19 0.02 5.898789 TCCxTTC COVERED NOVEL 0 21 21.351708 KEEP 40 0 0 71 2101 AA 1 1 0 7 49 252 0 0 15.985 157 49 5342 352 0.042683 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391456 46391456 __UNKNOWN__ IGR SNP G G A rs4502238 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46391456G>A NA NA None (None upstream) : ANKRD26P1 (111796 downstream) NA NA NA ccattcgattgcattcgatga 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46391456G>A NA hg19 0.02 5.174854 ATTxCAT COVERED NOVEL 0 21 8.03005 KEEP 38 3 92 59 2072 GG 1 1 0 6 47 205 0 0 12.084315 165 49 6017 354 0.035088 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391464 46391464 __UNKNOWN__ IGR SNP T T C rs71257063|rs59117476|rs4569308 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46391464T>C NA NA None (None upstream) : ANKRD26P1 (111788 downstream) NA NA NA ttgcattcgatgattccatta 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46391464T>C NA hg19 0.02 6.118017 CGAxGAT COVERED NOVEL 0 21 9.024875 KEEP 32 3 97 64 1952 TT 1 1 0 8 47 257 0 0 15.467821 166 49 5818 352 0.045977 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391465 46391465 __UNKNOWN__ IGR SNP G G T rs71257063|rs4249761 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46391465G>T NA NA None (None upstream) : ANKRD26P1 (111787 downstream) NA NA NA tgcattcgatgattccattat 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46391465G>T NA hg19 0.02 5.230196 GATxATT COVERED NOVEL 0 22 16.68584 KEEP 33 1 30 66 2235 GG 1 1 0 7 47 219 0 0 12.854853 165 51 5974 354 0.040698 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391853 46391853 __UNKNOWN__ IGR SNP G G C rs4232885 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46391853G>C NA NA None (None upstream) : ANKRD26P1 (111399 downstream) NA NA NA tccattcgatgattccattcg 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46391853G>C NA hg19 0.02 1.971694 GATxATT COVERED NOVEL 0 14 3.647104 KEEP 19 1 34 24 819 GG 0.999869 0.999764 0 8 49 298 0 0 22.3242 72 60 2590 148 0.1 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46392004 46392004 __UNKNOWN__ IGR SNP C C T rs4319791 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46392004C>T NA NA None (None upstream) : ANKRD26P1 (111248 downstream) NA NA NA tgattctattcgattctcttc 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46392004C>T NA hg19 0.02 7.440631 ATTxGAT COVERED NOVEL 0 27 10.466982 KEEP 5 1 29 45 1477 CC 1 1 0 10 60 346 1 0 21.44249 224 60 7501 350 0.042735 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46392009 46392009 __UNKNOWN__ IGR SNP C C T rs4372866 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46392009C>T NA NA None (None upstream) : ANKRD26P1 (111243 downstream) NA NA NA ctattcgattctcttcgatgg 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46392009C>T NA hg19 0.02 8.155506 ATTxTCT COVERED NOVEL 0 29 10.768621 KEEP 4 1 29 46 1566 CC 1 1 0 12 60 417 1 0 26.858848 223 60 8110 351 0.051064 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46392046 46392046 __UNKNOWN__ IGR SNP T T A rs4396558 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46392046T>A NA NA None (None upstream) : ANKRD26P1 (111206 downstream) NA NA NA tattggatgattccattcgat 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46392046T>A NA hg19 0.02 7.563592 TGAxTCC COVERED NOVEL 0 31 18.352512 KEEP 5 0 0 61 1868 TT 1 1 0 10 60 350 0 1 22.055473 213 60 7395 356 0.044843 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46392601 46392601 __UNKNOWN__ IGR SNP C C T rs28804219 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46392601C>T NA NA None (None upstream) : ANKRD26P1 (110651 downstream) NA NA NA tgagttcattcgatgattcta 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46392601C>T NA hg19 0.02 -0.410856 ATTxGAT COVERED NOVEL 0 5 8.42043 KEEP 38 0 0 28 825 CC 0.995343 0.937356 0 3 49 107 0 0 7.381609 41 49 1333 125 0.068182 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46393074 46393074 __UNKNOWN__ IGR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46393074T>A NA NA None (None upstream) : ANKRD26P1 (110178 downstream) NA NA NA ttctattctattcgatgatga 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46393074T>A NA hg19 0.02 1.830309 CTAxTCG COVERED NOVEL 0 23 9.763214 KEEP 26 1 30 43 1354 TT 1 0.998465 0 4 24 135 0 0 9.091028 54 60 1901 176 0.068966 0.998465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46393128 46393128 __UNKNOWN__ IGR SNP T T G rs28827236 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46393128T>G NA NA None (None upstream) : ANKRD26P1 (110124 downstream) NA NA NA cgattccatttgatgatttca 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46393128T>G NA hg19 0.02 4.163906 ATTxGAT COVERED NOVEL 0 25 3.980589 KEEP 21 2 71 38 1142 TT 0.999998 0.999979 0 7 46 256 0 0 18.122456 87 50 3044 204 0.074468 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46393246 46393246 __UNKNOWN__ IGR SNP G G C rs4249489 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46393246G>C NA NA None (None upstream) : ANKRD26P1 (110006 downstream) NA NA NA atttgagcctgttcgataatt 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46393246G>C NA hg19 0.02 2.147199 CCTxTTC COVERED NOVEL 0 10 6.921803 KEEP 21 0 0 23 782 GG 0.997832 0.995734 0 4 60 138 0 0 9.108777 64 60 2306 134 0.058824 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46393367 46393367 __UNKNOWN__ IGR SNP C C A rs4247758 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46393367C>A NA NA None (None upstream) : ANKRD26P1 (109885 downstream) NA NA NA ggagtgcattcgatgattcca 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46393367C>A NA hg19 0.02 1.694084 ATTxGAT UNCOVERED NOVEL 0 11 8.725384 KEEP 107 0 0 29 926 CC 0 0 0 4 42 131 0 0 8.49213 61 47 1831 221 0.061538 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46394014 46394014 __UNKNOWN__ IGR SNP A A C rs4249282 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46394014A>C NA NA None (None upstream) : ANKRD26P1 (109238 downstream) NA NA NA GATTCCATTCAAAGGTGATTT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46394014A>C NA hg19 0.02 1.772369 TTCxAAG COVERED NOVEL 0 16 6.618677 KEEP 42 0 0 22 666 AA 0.997832 0.997726 0 4 46 144 0 0 9.205455 86 47 2999 185 0.044444 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46394138 46394138 __UNKNOWN__ IGR SNP G G A rs28775901 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46394138G>A NA NA None (None upstream) : ANKRD26P1 (109114 downstream) NA NA NA gattccattcgatgattccat 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46394138G>A NA hg19 0.02 1.755995 TTCxATG COVERED NOVEL 0 20 4.683401 KEEP 54 2 64 38 1226 GG 0.999892 0.999811 0 5 60 170 0 0 11.085524 82 60 2818 218 0.057471 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46395104 46395104 __UNKNOWN__ IGR SNP T T A rs4337450 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46395104T>A NA NA None (None upstream) : ANKRD26P1 (108148 downstream) NA NA NA gacgattccgttcgagtccat 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46395104T>A NA hg19 0.02 -0.403525 CCGxTCG UNCOVERED NOVEL 0 3 3.910644 KEEP 25 0 0 13 378 TT 0 0 0 3 40 105 0 0 7.374885 35 60 1163 86 0.078947 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46395156 46395156 __UNKNOWN__ IGR SNP G G A rs4303694 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46395156G>A NA NA None (None upstream) : ANKRD26P1 (108096 downstream) NA NA NA gattccattcgatgttattcg 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46395156G>A NA hg19 0.02 3.89452 TTCxATG COVERED NOVEL 0 9 8.726428 KEEP 39 0 0 29 919 GG 0.994391 0.994386 0 7 40 249 0 0 17.228738 93 40 2900 191 0.07 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46395165 46395165 __UNKNOWN__ IGR SNP C C T rs4542820 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46395165C>T NA NA None (None upstream) : ANKRD26P1 (108087 downstream) NA NA NA cgatgttattcgatgattcca 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46395165C>T NA hg19 0.02 3.780796 ATTxGAT COVERED NOVEL 0 11 10.232236 KEEP 40 0 0 34 1122 CC 0.997832 0.997831 0 6 40 212 0 0 13.859972 108 48 3703 218 0.052632 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46395166 46395166 __UNKNOWN__ IGR SNP G G C rs4246405 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46395166G>C NA NA None (None upstream) : ANKRD26P1 (108086 downstream) NA NA NA gatgttattcgatgattccat 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46395166G>C NA hg19 0.02 4.171582 TTCxATG COVERED NOVEL 0 11 2.778091 KEEP 39 2 65 32 1037 GG 0.997832 0.997831 0 6 47 220 0 0 14.591355 111 48 3581 221 0.051282 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46395190 46395190 __UNKNOWN__ IGR SNP A A T rs4250144 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46395190A>T NA NA None (None upstream) : ANKRD26P1 (108062 downstream) NA NA NA atctcattcgatgatgattcc 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46395190A>T NA hg19 0.02 6.278551 TCGxTGA COVERED NOVEL 0 13 2.409662 KEEP 40 3 94 41 1286 AA 0.999957 0.999957 0 14 47 487 0 0 35.223627 135 48 4647 280 0.09396 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46395394 46395394 __UNKNOWN__ IGR SNP A A T rs4270324 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46395394A>T NA NA None (None upstream) : ANKRD26P1 (107858 downstream) NA NA NA tgatgattacattggattcca 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46395394A>T NA hg19 0.02 5.841113 TACxTTG COVERED NOVEL 0 15 8.723241 KEEP 18 0 0 29 870 AA 0.999892 0.999892 0 8 60 284 0 0 18.682258 141 60 4899 251 0.053691 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46399506 46399506 __UNKNOWN__ IGR SNP G G C rs146160236 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46399506G>C NA NA None (None upstream) : ANKRD26P1 (103746 downstream) NA NA NA tattccatttgatgatgattc 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46399506G>C NA hg19 0.02 2.061606 TTTxATG UNCOVERED NOVEL 0 11 3.347231 KEEP 61 1 37 24 827 GG 0 0 0 10 25 360 0 0 29.031958 50 40 1812 154 0.166667 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46400019 46400019 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46400019G>A NA NA None (None upstream) : ANKRD26P1 (103233 downstream) NA NA NA aagtccattcgatgatgattc 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46400019G>A NA hg19 0.02 1.883329 TTCxATG COVERED NOVEL 0 12 6.620155 KEEP 1 0 0 22 706 GG 0.999879 0.996112 0 4 49 137 0 0 9.114986 60 60 1933 108 0.0625 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46401358 46401358 __UNKNOWN__ IGR SNP T T G rs4126762|rs71268705 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46401358T>G NA NA None (None upstream) : ANKRD26P1 (101894 downstream) NA NA NA gattctattttattcaattgg 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46401358T>G NA hg19 0.02 -0.33336 TTTxATT COVERED NOVEL 0 5 3.610732 KEEP 6 0 0 12 368 TT 0.99254 0.845628 0 3 40 108 2 0 7.71106 34 50 1167 69 0.081081 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46401935 46401935 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46401935T>G NA NA None (None upstream) : ANKRD26P1 (101317 downstream) NA NA NA ttccatatgatgatgattcca 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46401935T>G NA hg19 0.02 -0.368447 TGAxGAT UNCOVERED NOVEL 0 8 6.318315 KEEP 69 0 0 21 638 TT 0 0 0 5 25 170 0 0 12.961251 33 30 1130 145 0.131579 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46401979 46401979 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46401979T>C NA NA None (None upstream) : ANKRD26P1 (101273 downstream) NA NA NA ttctattctattcaatggtga 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46401979T>C NA hg19 0.02 -0.394776 CTAxTCA UNCOVERED NOVEL 0 3 4.814047 KEEP 76 0 0 16 487 TT 0 0 0 3 25 113 0 0 7.975916 41 25 1408 156 0.068182 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46402796 46402796 __UNKNOWN__ IGR SNP G G A rs8048918 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46402796G>A NA NA None (None upstream) : ANKRD26P1 (100456 downstream) NA NA NA gattccatccgatttcattgg 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46402796G>A NA hg19 0.02 -0.385962 TCCxATT COVERED NOVEL 0 9 7.523083 KEEP 39 0 0 25 809 GG 0.993072 0.91181 0 3 24 107 0 0 7.43915 39 31 1364 119 0.071429 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46402826 46402826 __UNKNOWN__ IGR SNP C C T rs4967068 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46402826C>T NA NA None (None upstream) : ANKRD26P1 (100426 downstream) NA NA NA ccattcgagtccattcgatga 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46402826C>T NA hg19 0.02 -0.298139 AGTxCAT COVERED NOVEL 0 7 6.283711 KEEP 30 0 0 21 650 CC 0.99257 0.775257 0 3 24 105 0 0 7.567218 30 31 1011 86 0.090909 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46403609 46403609 __UNKNOWN__ IGR SNP A A T rs55980441 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46403609A>T NA NA None (None upstream) : ANKRD26P1 (99643 downstream) NA NA NA ggatgattccattcgattcca 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46403609A>T NA hg19 0.02 4.055525 TCCxTTC COVERED NOVEL 0 15 10.530841 KEEP 19 0 0 35 1064 AA 0.999988 0.999972 0 7 60 240 1 0 16.524686 87 60 2971 180 0.074468 0.999984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46403685 46403685 __UNKNOWN__ IGR SNP G G A rs4324300 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46403685G>A NA NA None (None upstream) : ANKRD26P1 (99567 downstream) NA NA NA cattccatttgatttcattcg 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46403685G>A NA hg19 0.02 7.853693 TTTxATT COVERED NOVEL 0 54 3.436606 KEEP 9 7 218 88 2940 GG 1 1 0 13 60 458 0 0 30.836681 197 60 7136 419 0.061905 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46403711 46403711 __UNKNOWN__ IGR SNP G G A rs150682234|rs28804389|rs71220399 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46403711G>A NA NA None (None upstream) : ANKRD26P1 (99541 downstream) NA NA NA gattccattcgattccattcg 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46403711G>A NA hg19 0.02 7.885814 TTCxATT COVERED NOVEL 0 49 6.321705 KEEP 12 6 176 83 2651 GG 1 1 0 11 60 389 1 0 25.935975 178 60 5935 392 0.058201 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46405120 46405120 __UNKNOWN__ IGR SNP C C G rs4380210 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46405120C>G NA NA None (None upstream) : ANKRD26P1 (98132 downstream) NA NA NA cgattccattcgataatgatt 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46405120C>G NA hg19 0.02 4.135828 ATTxGAT COVERED NOVEL 0 16 7.65867 KEEP 26 1 33 37 1203 CC 0.999997 0.999997 0 8 47 286 0 0 19.84228 106 60 3508 226 0.070175 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46405165 46405165 __UNKNOWN__ IGR SNP T T C rs71206331|rs4362416|rs71278824 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46405165T>C NA NA None (None upstream) : ANKRD26P1 (98087 downstream) NA NA NA catttgagcctgttcgataat 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46405165T>C NA hg19 0.02 3.819124 GCCxGTT COVERED NOVEL 0 6 2.542695 KEEP 15 1 33 20 639 TT 0.999863 0.999863 0 10 44 308 0 0 20.952652 102 60 3575 206 0.089286 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46405862 46405862 __UNKNOWN__ IGR SNP G G C rs13338708 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46405862G>C NA NA None (None upstream) : ANKRD26P1 (97390 downstream) NA NA NA aattccattcgatgattcctt 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46405862G>C NA hg19 0.02 4.68096 TTCxATG COVERED NOVEL 0 25 4.062983 KEEP 52 2 67 37 1163 GG 0.999892 0.999865 0 5 46 186 0 0 12.628378 84 47 2886 235 0.05618 0.999973 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46405900 46405900 __UNKNOWN__ IGR SNP C C T rs28799968 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46405900C>T NA NA None (None upstream) : ANKRD26P1 (97352 downstream) NA NA NA tgatggcattcgattcctttc 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46405900C>T NA hg19 0.02 3.812365 ATTxGAT COVERED NOVEL 0 26 12.615624 KEEP 43 0 0 42 1278 CC 0.999997 0.99999 0 5 24 172 0 0 11.014277 93 47 3101 229 0.05102 0.999993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46405920 46405920 __UNKNOWN__ IGR SNP C C A rs6598649 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46405920C>A NA NA None (None upstream) : ANKRD26P1 (97332 downstream) NA NA NA caatcattCCCTTTGATTCCA 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46405920C>A NA hg19 0.02 1.628489 TCCxTTT COVERED NOVEL 0 21 2.977971 KEEP 34 2 60 31 1050 CC 0.999988 0.999943 0 4 47 146 0 0 9.444228 84 48 3053 199 0.045455 0.999956 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46406216 46406216 __UNKNOWN__ IGR SNP A A T rs4265985 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46406216A>T NA NA None (None upstream) : ANKRD26P1 (97036 downstream) NA NA NA aatccacttgattccatttac 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46406216A>T NA hg19 0.02 -0.402969 TTGxTTC COVERED NOVEL 0 6 3.609553 KEEP 16 0 0 12 354 AA 0.992708 0.927678 0 5 31 155 0 0 11.660476 30 48 1004 79 0.142857 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46406538 46406538 __UNKNOWN__ IGR SNP T T A rs28844912 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46406538T>A NA NA None (None upstream) : ANKRD26P1 (96714 downstream) NA NA NA ctcgattccattcgatgactc 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46406538T>A NA hg19 0.02 1.538078 CCAxTCG COVERED NOVEL 0 12 7.823712 KEEP 45 0 0 26 818 TT 0.999859 0.999799 0 7 46 237 0 1 16.328588 84 48 2876 190 0.076923 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46406551 46406551 __UNKNOWN__ IGR SNP T T G rs7200104 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46406551T>G NA NA None (None upstream) : ANKRD26P1 (96701 downstream) NA NA NA gatgactccatttgatcccat 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46406551T>G NA hg19 0.02 1.746443 CCAxTTG COVERED NOVEL 0 13 3.44374 KEEP 34 1 33 23 705 TT 0.999863 0.999793 0 4 48 144 0 0 9.266467 83 48 2782 179 0.045977 0.99993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46406575 46406575 __UNKNOWN__ IGR SNP G G T rs4453526 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46406575G>T NA NA None (None upstream) : ANKRD26P1 (96677 downstream) NA NA NA atgatttcctgtgattccctt 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46406575G>T NA hg19 0.02 1.508251 CCTxTGA COVERED NOVEL 0 11 4.046388 KEEP 10 1 27 23 789 GG 0.999892 0.999696 0 9 40 290 0 0 21.407168 65 48 2359 141 0.121622 0.999804 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46406652 46406652 __UNKNOWN__ IGR SNP G G C rs8061872 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46406652G>C NA NA None (None upstream) : ANKRD26P1 (96600 downstream) NA NA NA gtttccattcgactccattcg 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46406652G>C NA hg19 0.02 2.11436 TTCxACT COVERED NOVEL 0 12 4.347361 KEEP 66 1 33 26 814 GG 0.999366 0.973348 0 5 27 173 0 0 13.591824 28 49 901 162 0.151515 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46406828 46406828 __UNKNOWN__ IGR SNP G G C rs9328642 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46406828G>C NA NA None (None upstream) : ANKRD26P1 (96424 downstream) NA NA NA gattccattcgagtccatttg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46406828G>C NA hg19 0.02 4.313659 TTCxAGT COVERED NOVEL 0 26 8.597114 KEEP 98 2 67 52 1708 GG 0.999863 0.999863 0 5 25 189 0 0 12.020986 129 48 4197 331 0.037313 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46406949 46406949 __UNKNOWN__ IGR SNP T T C rs4249069 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46406949T>C NA NA None (None upstream) : ANKRD26P1 (96303 downstream) NA NA NA gatgattccattcgcttgctt 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46406949T>C NA hg19 0.02 8.628574 CCAxTCG COVERED NOVEL 0 40 18.687023 KEEP 18 1 34 74 2211 TT 1 1 0 13 49 475 0 0 32.058078 215 50 7209 420 0.057018 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46407024 46407024 __UNKNOWN__ IGR SNP T T A rs4009067 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46407024T>A NA NA None (None upstream) : ANKRD26P1 (96228 downstream) NA NA NA gacgattccgttcgagtccat 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46407024T>A NA hg19 0.02 3.38824 CCGxTCG COVERED NOVEL 0 15 8.25816 KEEP 32 1 27 37 1169 TT 0.999997 0.999997 0 7 47 235 0 0 14.802541 132 50 4532 260 0.05036 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46407951 46407951 __UNKNOWN__ IGR SNP A A G rs140604375|rs4450416 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46407951A>G NA NA None (None upstream) : ANKRD26P1 (95301 downstream) NA NA NA ccaatcgatgatgattccatt 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46407951A>G NA hg19 0.02 2.032123 ATGxTGA COVERED NOVEL 0 8 4.212238 KEEP 29 0 0 14 432 AA 0.99257 0.963607 0 5 40 176 0 0 12.928473 45 25 1527 111 0.1 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46407977 46407977 __UNKNOWN__ IGR SNP A A T rs4353501|rs56259385 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46407977A>T NA NA None (None upstream) : ANKRD26P1 (95275 downstream) NA NA NA ccatttaatgattccatttga 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46407977A>T NA hg19 0.02 1.941184 ATGxTTC COVERED NOVEL 0 12 3.54292 KEEP 40 1 32 23 707 AA 0.99254 0.956584 0 6 24 203 0 0 15.197377 44 40 1542 126 0.12 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46408358 46408358 __UNKNOWN__ IGR SNP G G A rs4249029 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46408358G>A NA NA None (None upstream) : ANKRD26P1 (94894 downstream) NA NA NA gattccattcgattccattca 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46408358G>A NA hg19 0.02 4.02817 TTCxATT COVERED NOVEL 0 14 9.353102 KEEP 55 1 31 42 1327 GG 0.999909 0.999909 0 12 45 429 0 0 31.341452 116 47 3873 265 0.09375 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46408378 46408378 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46408378T>C NA NA None (None upstream) : ANKRD26P1 (94874 downstream) NA NA NA aatgattccatttgattccag 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46408378T>C NA hg19 0.02 4.068401 CCAxTTG COVERED NOVEL 0 16 9.553662 KEEP 50 1 32 43 1312 TT 0.999988 0.999988 0 7 46 261 0 0 17.285727 137 48 4832 296 0.048611 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46408416 46408416 __UNKNOWN__ IGR SNP C C T rs4009084 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46408416C>T NA NA None (None upstream) : ANKRD26P1 (94836 downstream) NA NA NA cgattccattcgatcactcca 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46408416C>T NA hg19 0.02 5.955837 ATTxGAT COVERED NOVEL 0 21 10.161989 KEEP 60 1 32 45 1406 CC 0.999988 0.999988 0 6 47 213 0 0 13.129973 150 48 4875 305 0.038462 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46408508 46408508 __UNKNOWN__ IGR SNP A A T rs9938780 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46408508A>T NA NA None (None upstream) : ANKRD26P1 (94744 downstream) NA NA NA atttgattccattcgatgatg 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46408508A>T NA hg19 0.02 1.862425 TCCxTTC UNCOVERED NOVEL 0 6 5.415087 KEEP 57 0 0 18 537 AA 0 0 0 4 40 138 0 0 9.390332 54 40 1849 147 0.068966 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46408532 46408532 __UNKNOWN__ IGR SNP C C G rs4967232 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46408532C>G NA NA None (None upstream) : ANKRD26P1 (94720 downstream) NA NA NA ccattcgagtccattcgatga 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46408532C>G NA hg19 0.02 -0.385579 AGTxCAT UNCOVERED NOVEL 0 3 3.611471 KEEP 47 0 0 12 403 CC 0 0 0 3 24 111 0 0 7.808673 40 40 1370 110 0.069767 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46408551 46408551 __UNKNOWN__ IGR SNP G G C rs7194073 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46408551G>C NA NA None (None upstream) : ANKRD26P1 (94701 downstream) NA NA NA gatttcattcgagtacatcca 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46408551G>C NA hg19 0.02 -0.342125 TTCxAGT UNCOVERED NOVEL 0 2 2.692248 KEEP 40 0 0 9 262 GG 0 0 0 3 31 112 0 0 8.185946 32 40 1107 89 0.085714 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46413330 46413330 __UNKNOWN__ IGR SNP T T C rs13333012 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46413330T>C NA NA None (None upstream) : ANKRD26P1 (89922 downstream) NA NA NA catttgacgatgattccattc 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46413330T>C NA hg19 0.02 -0.184231 CGAxGAT UNCOVERED NOVEL 0 8 5.414825 KEEP 31 0 0 18 526 TT 0 0 0 3 22 109 0 0 8.732709 16 48 569 79 0.157895 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46420322 46420322 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46420322G>A NA NA None (None upstream) : ANKRD26P1 (82930 downstream) NA NA NA tcatcgaatggtattgaatgg 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46420322G>A NA hg19 0.02 1.871432 ATGxTAT COVERED NOVEL 0 7 4.514595 KEEP 6 0 0 15 516 GG 0.994391 0.980622 0 5 49 166 0 0 11.675617 51 51 1755 94 0.089286 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46420813 46420813 __UNKNOWN__ IGR SNP G G A rs13332494 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46420813G>A NA NA None (None upstream) : ANKRD26P1 (82439 downstream) NA NA NA ggactcgaatgaaatcatcga 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46420813G>A NA hg19 0.02 -0.263187 AATxAAA UNCOVERED NOVEL 0 3 2.708288 KEEP 10 0 0 9 292 GG 0 0 0 3 25 102 0 0 7.491874 25 46 898 50 0.107143 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46420903 46420903 __UNKNOWN__ IGR SNP A A G rs4588009 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46420903A>G NA NA None (None upstream) : ANKRD26P1 (82349 downstream) NA NA NA cattatcaaaagaaatccagt 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46420903A>G NA hg19 0.02 2.114228 AAAxGAA COVERED NOVEL 0 6 4.814612 KEEP 24 0 0 16 509 AA 0.993072 0.967218 0 6 25 220 0 0 16.841219 45 46 1623 114 0.117647 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46424705 46424705 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46424705T>C NA NA None (None upstream) : ANKRD26P1 (78547 downstream) NA NA NA tcgaatacaatagaatggaat 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46424705T>C NA hg19 0.02 -0.315774 CAAxAGA COVERED NOVEL 0 9 3.744441 KEEP 21 1 36 25 747 TT 0.999859 0.818349 0 3 37 110 0 0 8.564112 20 48 681 90 0.130435 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46428128 46428128 __UNKNOWN__ IGR SNP C C G rs143996641 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46428128C>G NA NA None (None upstream) : ANKRD26P1 (75124 downstream) NA NA NA atggaatcatccaatataata 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46428128C>G NA hg19 0.02 -0.245572 CATxCAA COVERED NOVEL 0 8 3.912657 KEEP 6 0 0 13 445 CC 0.99257 0.636582 0 3 60 110 0 0 8.342028 24 60 805 49 0.111111 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46428200 46428200 __UNKNOWN__ IGR SNP C C G rs71230457 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46428200C>G NA NA None (None upstream) : ANKRD26P1 (75052 downstream) NA NA NA atggaatcatcattgaatgga 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46428200C>G NA hg19 0.02 -0.289477 CATxATT UNCOVERED NOVEL 0 7 3.009665 KEEP 12 0 0 10 340 CC 0 0 0 5 49 175 0 0 14.181161 23 60 813 64 0.178571 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46432562 46432562 __UNKNOWN__ IGR SNP C C T rs28807789 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46432562C>T NA NA None (None upstream) : ANKRD26P1 (70690 downstream) NA NA NA cgaatggaatcgaaaggaatc 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46432562C>T NA hg19 0.02 -0.342121 AATxGAA UNCOVERED NOVEL 0 16 6.921562 KEEP 50 0 0 23 762 CC 0 0 0 3 24 107 0 0 7.610818 34 49 1191 113 0.081081 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46433118 46433118 __UNKNOWN__ IGR SNP C C T rs11504732 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46433118C>T NA NA None (None upstream) : ANKRD26P1 (70134 downstream) NA NA NA caaatggaatcaaatggaatc 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46433118C>T NA hg19 0.02 -0.166689 AATxAAA UNCOVERED NOVEL 0 4 2.40763 KEEP 30 0 0 8 269 CG 0 0 0 3 39 98 0 0 7.878513 13 52 478 62 0.1875 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46434406 46434406 __UNKNOWN__ IGR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:46434406T>A NA NA None (None upstream) : ANKRD26P1 (68846 downstream) NA NA NA aatgaaatcatcaacgaatgg 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.46434406T>A NA hg19 0.02 -0.192576 TCAxCAA COVERED NOVEL 0 7 3.008007 KEEP 5 0 0 10 300 TT 0.99254 0.454342 0 4 49 145 0 0 12.167659 15 48 488 45 0.210526 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 51081124 51081124 __UNKNOWN__ IGR SNP C C A rs8053371 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:51081124C>A NA NA RP11-883G14.3 (8449 upstream) : RP11-883G14.4 (7514 downstream) NA NA NA gaagaagaagcagaagCAGCA 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.51081124C>A NA hg19 0.02 -0.122821 AAGxAGA COVERED NOVEL 0 16 6.320578 KEEP 3 0 0 21 733 CC 0.999859 0.196284 0 3 40 109 0 0 9.84349 6 60 218 40 0.333333 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 52689998 52689998 __UNKNOWN__ IGR SNP G G C rs201377864 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:52689998G>C NA NA RP11-297L17.4 (26728 upstream) : RP11-467J12.2 (286694 downstream) NA NA NA GCTCCTCCCTGTGACCCAGAC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.52689998G>C NA hg19 0.02 1.921226 CCTxTGA COVERED NOVEL 0 1 3.611702 KEEP 0 0 0 12 415 GG 0.993634 0.992337 0 11 46 395 0 0 31.102975 65 60 2379 108 0.144737 0.998696 GNAO1 2775 __UNKNOWN__ __UNKNOWN__ 16 56388628 56388628 __UNKNOWN__ Intron SNP G G T rs200517650 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:56388628G>T ENST00000262493.6 + 8 1723 NM_020988.2 NP_066268.1 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278) heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) ACTATGGCTTGGAACTGCCCA 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10756.1, CCDS10757.1 16q13 2008-08-01 ENSG00000087258 ENSG00000087258 2775 4389 protein-coding gene gene with protein product 139311 NA 1899283, 11395521 Standard NM_020988 NM_020988 NA Approved G-ALPHA-o uc002eit.4 P09471 OTTHUMG00000133241 ENST00000262493.6:c.878-150G>T chr16.hg19:g.56388628G>T NA P29777|Q8TD72|Q9UMV4 hg19 CCDS10756.1 0.02 -0.364637 CTTxGAA COVERED NOVEL GNAO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256981.2 1 3.00682 KEEP 0 0 0 10 301 GG 0.992708 0.892756 0 + 6 60 118 0 0 7.292603 36 60 914 57 ENST00000262493.6 0.142857 0.899314 CCDC135 0 __UNKNOWN__ __UNKNOWN__ 16 57760669 57760669 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:57760669T>G ENST00000360716.3 + 15 2195 CCDC135_ENST00000394337.4_Intron|CCDC135_ENST00000336825.8_Intron Q8IY82 CC135_HUMAN NA NA cell differentiation (GO:0030154)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|motile cilium (GO:0031514) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 gtggcaggggtagatttgaac 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000360716.3:c.1975-75T>G chr16.hg19:g.57760669T>G NA A8K943|Q8NAA0|Q9H080 hg19 CCDS10787.1 0.02 1.904358 GGGxAGA COVERED NOVEL CCDC135-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433323.2 0 3.459895 KEEP 0 2 14 17 366 TT 0.99986 0.999859 0 + 23 60 234 0 0 9.304168 104 60 2378 179 ENST00000360716.3 0.181102 1 RP11-467L24.1 0 __UNKNOWN__ __UNKNOWN__ 16 64410579 64410579 __UNKNOWN__ lincRNA SNP G G A rs12925109 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:64410579G>A ENST00000564046.1 + 0 116 NA NA NA aaatcggtcgggcgtggtggc 0.463 NA NA G||| 1412 0.281949 0.1823 0.428 5008 , , NA 16732 0.4127 NA 0.3161 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000564046.1: chr16.hg19:g.64410579G>A NA hg19 0.02 -0.026318 TCGxGCG UNCOVERED NOVEL RP11-467L24.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000420524.2 2 3.009803 KEEP 1 0 0 10 349 GG 0.99254 0 0 + 2 60 68 0 0 6.924758 1 60 34 17 ENST00000564046.1 0.666667 0 CES2 8824 __UNKNOWN__ __UNKNOWN__ 16 66968655 66968655 __UNKNOWN__ De_novo_Start_OutOfFrame SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:66968655C>A ENST00000317091.4 + 0 293 CES2_ENST00000417689.1_De_novo_Start_OutOfFrame NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 NA NA catabolic process (GO:0009056) endoplasmic reticulum (GO:0005783) carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374) breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209) TCGCCTCTGGCCTGGCAGGGA 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(70;1230 1691 37888 38351) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC032095 CCDS10825.1, CCDS45507.1 16q22.1 2010-10-12 2010-10-12 ENSG00000172831 ENSG00000172831 8824 Carboxylesterases 1864 protein-coding gene gene with protein product 605278 carboxylesterase 2 (intestine, liver) NA 9169443, 9144407, 20931200 Standard NM_003869 NM_198061 NA Approved CE-2, iCE, CES2A1 uc002eqr.3 O00748 OTTHUMG00000137517 ENST00000317091.4:c.-692C>A chr16.hg19:g.66968655C>A NA A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8 hg19 CCDS10825.1 0.02 5.845124 TGGxCTG COVERED NOVEL CES2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000268838.2 1 22.832358 KEEP 0 0 0 76 2535 CC 1 1 0 + 74 60 2464 0 0 225.486964 121 60 4228 338 ENST00000317091.4 0.379487 1 CES3 23491 __UNKNOWN__ __UNKNOWN__ 16 66996985 66996985 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:66996985G>T ENST00000303334.4 + 2 153 CES3_ENST00000394037.1_Intron|RP11-361L15.4_ENST00000566869.1_RNA NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 NA NA endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062) carboxylic ester hydrolase activity (GO:0052689) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) AAGATGCTGTGTGGTAAGTAC 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025389 CCDS10826.1, CCDS54022.1, CCDS54023.1 16q22.1 2014-05-13 2008-07-25 ENSG00000172828 ENSG00000172828 23491 Carboxylesterases 1865 protein-coding gene gene with protein product esterase 31, brain carboxylesterase BR3 605279 carboxylesterase 3 (brain) NA 10518925, 14581373, 15100172, 20931200 Standard NM_024922 NM_001185176 NA Approved FLJ21736, ES31 uc002eqt.3 Q6UWW8 OTTHUMG00000137525 ENST00000303334.4:c.83-97G>T chr16.hg19:g.66996985G>T NA B2Z3W9|F5H242|Q7Z6J1|Q9H6X7 hg19 CCDS10826.1 0.02 8.305415 TGTxTGG COVERED NOVEL CES3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000268848.1 1 11.423864 KEEP 0 0 0 38 1266 GG 1 1 0 + 93 60 3205 0 0 299.336411 129 60 4477 305 ENST00000303334.4 0.418919 1 TSNAXIP1 55815 __UNKNOWN__ __UNKNOWN__ 16 67848306 67848306 __UNKNOWN__ Splice_Site SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:67848306T>C ENST00000388833.3 + 2 362 c.e2+2 TSNAXIP1_ENST00000561639.1_Splice_Site|TSNAXIP1_ENST00000415766.3_Splice_Site|TSNAXIP1_ENST00000562321.1_Splice_Site NM_018430.2 NP_060900.2 translin-associated factor X interacting protein 1 NA NA NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) AGGACGCTGGTTAGTGACAAT 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001630 splice_region_variant AF132730 CCDS10846.2, CCDS73903.1, CCDS73904.1 16q22.2 2008-02-05 ENSG00000102904 ENSG00000102904 55815 18586 protein-coding gene gene with protein product 607720 NA 12036294 Standard NM_018430 XM_005256051 NA Approved TXI1 uc002euj.3 Q2TAA8 OTTHUMG00000137545 ENST00000388833.3:c.-16+2T>C chr16.hg19:g.67848306T>C NA hg19 CCDS10846.2 0.02 4.557563 TGGxTAG COVERED . . . . . . . . . . T 8.778 0.927518 0.18056 . . ENSG00000102904 ENST00000415766 . . . 3.99 2.86 0.33363 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 6.686 0.23146 0.21:0.0:0.0:0.79 . . . . . -1 . . . + . . TSNAXIP1 66405807 1.000000 0.71417 0.997000 0.53966 0.124000 0.20399 3.325000 0.52030 0.842000 0.35045 0.460000 0.39030 . NOVEL TSNAXIP1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000268876.2 1 5.711912 KEEP 0 0 0 19 595 TT 0.99986 0.999857 0 Intron + 47 60 1689 0 0 157.54176 68 60 2365 149 ENST00000388833.3 0.408696 0.999997 NFAT5 10725 __UNKNOWN__ __UNKNOWN__ 16 69689585 69689585 __UNKNOWN__ Missense_Mutation SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:69689585G>C ENST00000393742.2 + 6 1181 c.797G>C c.(796-798)gGa>gCa p.G266A NFAT5_ENST00000566899.1_Missense_Mutation_p.G266A|NFAT5_ENST00000354436.2_Missense_Mutation_p.G342A|NFAT5_ENST00000349945.1_Missense_Mutation_p.G266A|NFAT5_ENST00000567239.1_Missense_Mutation_p.G360A|NFAT5_ENST00000432919.1_Missense_Mutation_p.G360A NM_173214.2 NP_775321.1 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 342 RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}. NA cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AAACCACATGGATTTTATCAG 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 161 149 153 NA NA NA 16 NA NA 69689585 2198 4300 6498 SO:0001583 missense AF134870 CCDS10881.1, CCDS10882.1, CCDS45519.1 16q22.1 2009-11-24 ENSG00000102908 ENSG00000102908 10725 Nuclear factor of activated T-cells 7774 protein-coding gene gene with protein product 604708 NA 10377394 Standard NM_138714 NM_173214 NA Approved TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5 uc002exl.2 O94916 OTTHUMG00000137572 ENST00000393742.2:c.797G>C chr16.hg19:g.69689585G>C ENSP00000377343:p.Gly266Ala NA A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18 hg19 CCDS10882.1 0.02 14.027669 ATGxATT COVERED . . . . . . . . . . G 26.8 4.776784 0.90195 . . ENSG00000102908 ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742 T;T;T;T 0.36878 1.23;1.23;1.23;1.23 5.71 5.71 0.89125 Rel homology (3);p53-like transcription factor, DNA-binding (1); 0.000000 0.85682 D 0.000000 T 0.38904 0.1058 N 0.10945 0.07 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;0.999;0.999 T 0.09574 -1.0668 10 0.02654 T 1 -2.2237 19.8493 0.96733 0.0:0.0:1.0:0.0 . 360;342;360;266 A2RRB4;O94916;E9PHR7;O94916-2 .;NFAT5_HUMAN;.;. A 360;360;266;342;266 ENSP00000396538:G360A;ENSP00000338806:G266A;ENSP00000346420:G342A;ENSP00000377343:G266A ENSP00000338806:G266A G + 2 0 NFAT5 68247086 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.835000 0.99442 2.701000 0.92244 0.563000 0.77884 GGA NOVEL NFAT5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268953.2 0 28.862976 KEEP 0 0 0 96 3195 GG 1 1 0 + 132 60 4762 0 0 445.165175 187 60 6677 512 ENST00000393742.2 0.413793 1 CLEC18A 348174 __UNKNOWN__ __UNKNOWN__ 16 69985148 69985148 __UNKNOWN__ 5'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:69985148C>T ENST00000288040.6 + 0 66 CLEC18A_ENST00000449317.2_5'UTR|CLEC18A_ENST00000393701.2_Intron|CLEC18A_ENST00000568461.1_Intron NM_001136214.2 NP_001129686.1 A5D8T8 CL18A_HUMAN C-type lectin domain family 18, member A NA NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|lung(1)|skin(1) 5 ACCAGCCTCCCTCTTTTGTCC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF428259 CCDS10886.1 16q22.1 2010-04-27 2009-03-10 2009-03-10 ENSG00000157322 348174 C-type lectin domain containing 30388 protein-coding gene gene with protein product mannose receptor-like NA NA 12975309 Standard NM_182619 NM_001136214 NA Approved MRCL uc010vlo.3 A5D8T8 ENST00000288040.6:c.-122C>T chr16.hg19:g.69985148C>T NA A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2 hg19 CCDS10886.1 0.02 11.159098 TCCxTCT COVERED NOVEL CLEC18A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000268955.2 1 17.115414 KEEP 219 0 0 57 1863 CC 1 1 0 + 8 25 304 0 0 18.709815 252 27 8749 655 ENST00000288040.6 0.030769 1 CLEC18A 348174 __UNKNOWN__ __UNKNOWN__ 16 69985248 69985248 __UNKNOWN__ 5'UTR SNP G G A rs200598028 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:69985248G>A ENST00000288040.6 + 0 166 CLEC18A_ENST00000449317.2_5'UTR|CLEC18A_ENST00000393701.2_5'UTR|CLEC18A_ENST00000568461.1_5'UTR NM_001136214.2 NP_001129686.1 A5D8T8 CL18A_HUMAN C-type lectin domain family 18, member A NA NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|lung(1)|skin(1) 5 TGCACGGAGCGCCTGACGGGC 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 16 NA NA 69985248 173 425 598 SO:0001623 5_prime_UTR_variant AF428259 CCDS10886.1 16q22.1 2010-04-27 2009-03-10 2009-03-10 ENSG00000157322 348174 C-type lectin domain containing 30388 protein-coding gene gene with protein product mannose receptor-like NA NA 12975309 Standard NM_182619 NM_001136214 NA Approved MRCL uc010vlo.3 A5D8T8 ENST00000288040.6:c.-22G>A chr16.hg19:g.69985248G>A NA A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2 hg19 CCDS10886.1 0.02 10.239475 AGCxCCT COVERED NOVEL CLEC18A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000268955.2 0 12.639873 KEEP 35 0 0 42 1404 GG 1 1 0 + 16 25 484 0 0 28.101571 326 40 11197 459 ENST00000288040.6 0.046784 1 CLEC18A 348174 __UNKNOWN__ __UNKNOWN__ 16 69988319 69988319 __UNKNOWN__ Missense_Mutation SNP T T C rs3869427 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:69988319T>C ENST00000288040.6 + 3 486 c.299T>C c.(298-300)cTg>cCg p.L100P CLEC18A_ENST00000449317.2_Missense_Mutation_p.L100P|CLEC18A_ENST00000393701.2_Missense_Mutation_p.L100P|CLEC18A_ENST00000568461.1_Missense_Mutation_p.L100P NM_001136214.2 NP_001129686.1 A5D8T8 CL18A_HUMAN C-type lectin domain family 18, member A 100 SCP. NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|lung(1)|skin(1) 5 GCGTCCGGCCTGTGGCGCACC 0.657 NA NA .||| 955 0.190695 0.0492 0.3084 5008 , , NA 17165 0.1498 NA 0.3559 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA NA 0 T PRO/LEU,PRO/LEU 360,4036 19,322,1857 58 55 56 NA 299,299 -0.2 0 16 dbSNP_108 56 3071,5529 651,1769,1880 no missense,missense CLEC18A NM_001136214.1,NM_182619.2 98,98 670,2091,3737 CC,CT,TT NA 35.7093,8.1893,26.4004 benign,benign 100/447,100/447 69988319 3431,9565 2198 4300 6498 SO:0001583 missense AF428259 CCDS10886.1 16q22.1 2010-04-27 2009-03-10 2009-03-10 ENSG00000157322 348174 C-type lectin domain containing 30388 protein-coding gene gene with protein product mannose receptor-like NA NA 12975309 Standard NM_182619 NM_001136214 NA Approved MRCL uc010vlo.3 A5D8T8 ENST00000288040.6:c.299T>C chr16.hg19:g.69988319T>C ENSP00000288040:p.Leu100Pro NA A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2 hg19 CCDS10886.1 0.02 -0.394774 GCCxGTG COVERED 582 0.2664835164835165 38 0.07723577235772358 128 0.35359116022099446 118 0.2062937062937063 298 0.39313984168865435 . 1.610 -0.524298 0.04141 0.081893 0.357093 ENSG00000157322 ENST00000393701;ENST00000539957;ENST00000449317;ENST00000288040 T;T;T 0.07444 3.19;3.19;3.19 1.97 -0.22 0.13130 CAP domain (3); 0.580703 0.17352 N 0.177375 T 0.00012 0.0000 N 0.05534 -0.03 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.001;0.0;0.0 T 0.46527 -0.9185 8 . . . . 4.7978 0.13281 0.0:0.6518:0.0:0.3482 rs3869427;rs5017398 100;100;100 B4DPF2;A5D8T8;F8W692 .;CL18A_HUMAN;. P 100 ENSP00000377304:L100P;ENSP00000413990:L100P;ENSP00000288040:L100P . L + 2 0 CLEC18A 68545820 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -0.442000 0.06871 -0.021000 0.14009 -1.372000 0.01188 CTG NOVEL CLEC18A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000268955.2 0 2.707065 KEEP 5 0 0 9 257 TT 0.99254 0.919727 0 + 3 25 106 0 0 7.307963 40 60 1412 73 ENST00000288040.6 0.069767 0.92664 CLEC18A 348174 __UNKNOWN__ __UNKNOWN__ 16 69988463 69988463 __UNKNOWN__ Missense_Mutation SNP C C G rs78531533 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:69988463C>G ENST00000288040.6 + 3 630 c.443C>G c.(442-444)aCc>aGc p.T148S CLEC18A_ENST00000449317.2_Missense_Mutation_p.T148S|CLEC18A_ENST00000393701.2_Missense_Mutation_p.T148S|CLEC18A_ENST00000568461.1_Missense_Mutation_p.T148S NM_001136214.2 NP_001129686.1 A5D8T8 CL18A_HUMAN C-type lectin domain family 18, member A 148 SCP. NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|lung(1)|skin(1) 5 GCCACCTGCACCCACTACACG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 21 21 NA NA NA 16 NA NA 69988463 2198 4297 6495 SO:0001583 missense AF428259 CCDS10886.1 16q22.1 2010-04-27 2009-03-10 2009-03-10 ENSG00000157322 348174 C-type lectin domain containing 30388 protein-coding gene gene with protein product mannose receptor-like NA NA 12975309 Standard NM_182619 NM_001136214 NA Approved MRCL uc010vlo.3 A5D8T8 ENST00000288040.6:c.443C>G chr16.hg19:g.69988463C>G ENSP00000288040:p.Thr148Ser NA A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2 hg19 CCDS10886.1 0.02 -0.357957 GCAxCCA COVERED . . . . . . . . . . . 8.343 0.829050 0.16749 . . ENSG00000157322 ENST00000393701;ENST00000539957;ENST00000545150;ENST00000449317;ENST00000288040 T;T;T 0.07688 3.17;3.17;3.17 1.97 1.97 0.26223 CAP domain (3); 0.557277 0.19650 N 0.109248 T 0.03959 0.0111 N 0.12502 0.225 0.21782 N 0.999542 B;B;B 0.27068 0.005;0.003;0.167 B;B;B 0.24394 0.02;0.008;0.053 T 0.43734 -0.9373 9 . . . . 7.5137 0.27587 0.0:1.0:0.0:0.0 . 148;148;148 B4DPF2;A5D8T8;F8W692 .;CL18A_HUMAN;. S 148;148;145;148;148 ENSP00000377304:T148S;ENSP00000413990:T148S;ENSP00000288040:T148S . T + 2 0 CLEC18A 68545964 0.596000 0.26866 0.995000 0.50966 0.088000 0.18126 1.195000 0.32186 1.424000 0.47217 0.184000 0.17185 ACC NOVEL CLEC18A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000268955.2 0 2.708294 KEEP 5 0 0 9 296 CC 0.99257 0.882271 0 + 4 49 152 0 0 11.426008 37 50 1255 65 ENST00000288040.6 0.097561 0.888875 PDPR 55066 __UNKNOWN__ __UNKNOWN__ 16 70165681 70165681 __UNKNOWN__ Intron SNP G G A rs397833739 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:70165681G>A ENST00000288050.4 + 8 1804 PDPR_ENST00000568530.1_Intron|PDPR_ENST00000398122.3_Intron NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit NA NA cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759) aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) TCCAAGCACTGTAGGAGAGGG 0.443 NA NA .||| 2 0.000399361 0 0.0014 5008 , , NA 28499 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45520.1 16q22.1 2010-08-24 ENSG00000090857 ENSG00000090857 55066 30264 protein-coding gene gene with protein product NA NA 9395502 Standard NM_017990 NM_017990 NA Approved PDP3 uc002eyf.1 Q8NCN5 ENST00000288050.4:c.847+359G>A chr16.hg19:g.70165681G>A NA A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9 hg19 CCDS45520.1 0.02 3.525547 ACTxTAG COVERED NOVEL PDPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434502.1 0 3.310295 KEEP 0 0 0 11 366 GG 0.993072 0.993071 0 + 6 39 206 0 0 13.123276 114 60 4117 155 ENST00000288050.4 0.05 0.999999 CLEC18C 283971 __UNKNOWN__ __UNKNOWN__ 16 70211218 70211218 __UNKNOWN__ Silent SNP G G A rs149087931 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:70211218G>A ENST00000569347.2 + 3 545 c.291G>A c.(289-291)gcG>gcA p.A97A CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000536907.2_Silent_p.A97A|CLEC18C_ENST00000314151.8_Silent_p.A97A|CLEC18C_ENST00000541793.2_Silent_p.A97A NM_173619.2 NP_775890.2 Q8NCF0 CL18C_HUMAN C-type lectin domain family 18, member C 97 SCP. NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) endometrium(3)|large_intestine(6)|lung(1) 10 CGAGCCTGGCGTCCGGCCTGT 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 7 6 NA NA NA 16 NA NA 70211218 1856 3689 5545 SO:0001819 synonymous_variant AL833339 CCDS32473.1 16q22.1 2010-04-27 2009-03-10 2009-03-10 ENSG00000157335 283971 C-type lectin domain containing 28538 protein-coding gene gene with protein product NA NA 12477932 Standard NM_173619 XM_005255906 NA Approved MGC34761 Q8NCF0 ENST00000569347.2:c.291G>A chr16.hg19:g.70211218G>A NA Q8IUW8 hg19 CCDS32473.1 0.02 1.742751 GGCxTCC COVERED . . . . . . . . . . N 4.212 0.038195 0.08148 . . ENSG00000157335 ENST00000539438 . . . 3.67 -7.35 0.01422 . . . . . T 0.29684 0.0741 . . . 0.09310 N 1 . . . . . . T 0.31943 -0.9925 5 0.34782 T 0.22 . 7.4304 0.27124 0.5189:0.3372:0.1439:0.0 . . . . I 95 . ENSP00000445424:V95I V + 1 0 CLEC18C 68768719 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -3.589000 0.00422 -2.515000 0.00501 -0.701000 0.03672 GTC NOVEL CLEC18C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000434588.2 1 2.807725 KEEP 26 3 81 38 1203 GG 0.999998 0.99962 0 + 14 49 460 0 0 36.329082 69 50 2142 172 ENST00000569347.2 0.168675 0.999622 CLEC18C 283971 __UNKNOWN__ __UNKNOWN__ 16 70211380 70211380 __UNKNOWN__ Silent SNP G G A rs3869429 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:70211380G>A ENST00000569347.2 + 3 707 c.453G>A c.(451-453)acG>acA p.T151T CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000536907.2_Silent_p.T151T|CLEC18C_ENST00000314151.8_Silent_p.T151T|CLEC18C_ENST00000541793.2_Silent_p.T151T NM_173619.2 NP_775890.2 Q8NCF0 CL18C_HUMAN C-type lectin domain family 18, member C 151 SCP. NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) endometrium(3)|large_intestine(6)|lung(1) 10 CCCACTACACGCAGGTGAGTG 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 12 10 11 NA NA NA 16 NA NA 70211380 2077 4023 6100 SO:0001819 synonymous_variant AL833339 CCDS32473.1 16q22.1 2010-04-27 2009-03-10 2009-03-10 ENSG00000157335 283971 C-type lectin domain containing 28538 protein-coding gene gene with protein product NA NA 12477932 Standard NM_173619 XM_005255906 NA Approved MGC34761 Q8NCF0 ENST00000569347.2:c.453G>A chr16.hg19:g.70211380G>A NA Q8IUW8 hg19 CCDS32473.1 0.02 1.522923 CACxCAG COVERED NOVEL CLEC18C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000434588.2 0 3.846576 KEEP 21 1 29 23 785 GG 0.999879 0.998574 0 + 9 25 286 0 0 20.948872 66 50 2307 131 ENST00000569347.2 0.12 0.998696 AARS 16 __UNKNOWN__ __UNKNOWN__ 16 70288014 70288014 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:70288014C>T ENST00000261772.8 - 18 2544 NM_001605.2 NP_001596.2 alanyl-tRNA synthetase NA NA breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) CCACCCCACCCGAACCCAAGT 0.572 NA NA OREG0023912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D32050 CCDS32474.1 16q22.1 2014-09-17 ENSG00000090861 ENSG00000090861 16 6.1.1.7 Aminoacyl tRNA synthetases / Class II 20 protein-coding gene gene with protein product alanine tRNA ligase 1, cytoplasmic 601065 NA 8595897 Standard NM_001605 NM_001605 NA Approved uc002eyn.1 P49588 OTTHUMG00000177042 ENST00000261772.8:c.2401-73G>A chr16.hg19:g.70288014C>T 1121 hg19 CCDS32474.1 0.02 2.088119 ACCxGAA COVERED NOVEL AARS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000435021.2 2 2.703813 KEEP 0 0 0 9 241 CC 0.99254 0.97463 0 - 26 60 888 0 0 84.144377 31 60 934 74 ENST00000261772.8 0.45614 0.981955 PHLPP2 23035 __UNKNOWN__ __UNKNOWN__ 16 71701051 71701051 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:71701051C>G ENST00000393524.2 - 11 2518 PHLPP2_ENST00000356272.3_Intron|PHLPP2_ENST00000568954.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Intron Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 AATGATTCTGCTCTTCCGAAA 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 76 75 75 NA NA NA 16 NA NA 71701051 2198 4300 6498 SO:0001627 intron_variant BX647823 CCDS32479.1, CCDS73910.1 16q22.2 2013-01-11 2009-05-26 2009-05-26 ENSG00000040199 ENSG00000040199 23035 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent, Pleckstrin homology (PH) domain containing 29149 protein-coding gene gene with protein product 611066 PH domain and leucine rich repeat protein phosphatase-like PHLPPL NA 17386267 Standard NM_015020 NM_001289003 NA Approved KIAA0931 uc002fax.3 Q6ZVD8 ENST00000393524.2:c.1784+29G>C chr16.hg19:g.71701051C>G NA A1L374|Q9NV17|Q9Y2E3 hg19 0.02 3.722135 CTGxTCT COVERED NOVEL PHLPP2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000434140.1 0 7.824849 KEEP 0 0 0 26 893 CC 0.999957 0.999957 0 - 6 60 214 0 0 13.45469 137 60 4923 206 ENST00000393524.2 0.041958 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 72088418 72088418 __UNKNOWN__ IGR SNP T T A rs5469 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:72088418T>A NA NA DHODH (29464 upstream) : HP (72 downstream) NA NA NA GAAAAGATAGTGACCTTACCA 0.428 NA NA T||| 604 0.120607 0.4327 0.0432 5008 , , NA 19666 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.72088418T>A NA hg19 0.02 1.570197 TAGxGAC COVERED NOVEL 0 0 3.909571 KEEP 0 0 0 13 374 TT 0.994391 0.993801 0 7 33 215 0 0 14.577675 75 60 2444 106 0.085366 0.999407 RP11-252A24.2 0 __UNKNOWN__ __UNKNOWN__ 16 74385202 74385202 __UNKNOWN__ RNA SNP A A G rs11864336 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:74385202A>G ENST00000429810.2 - 0 815 NA NA NA CTATGGAGCAAAGAGGAGAGG 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000429810.2: chr16.hg19:g.74385202A>G NA hg19 0.02 10.652472 GCAxAGA COVERED NOVEL RP11-252A24.2-003 KNOWN basic retained_intron NA pseudogene OTTHUMT00000434683.1 4 2.348136 KEEP 20 4 147 59 1855 AA 1 1 0 - 12 27 431 0 0 27.047368 283 60 9809 456 ENST00000429810.2 0.040678 1 CLEC18B 497190 __UNKNOWN__ __UNKNOWN__ 16 74451970 74451970 __UNKNOWN__ Missense_Mutation SNP G G C rs201240581 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:74451970G>C ENST00000339953.5 - 3 564 c.443C>G c.(442-444)aCc>aGc p.T148S NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 148 SCP. NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) p.T148S(1) endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CGTGTAGTGGGTGCAGGTGGC 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) upper_aerodigestive_tract(1) 10 11 11 NA NA NA 16 NA NA 74451970 1710 3535 5245 SO:0001583 missense AY358373 CCDS32484.1 16q22.3 2010-04-27 2009-03-10 2009-03-10 ENSG00000140839 497190 C-type lectin domain containing 33849 protein-coding gene gene with protein product NA NA Standard NM_001011880 NM_001011880 NA Approved uc002fct.3 Q6UXF7 ENST00000339953.5:c.443C>G chr16.hg19:g.74451970G>C ENSP00000341051:p.Thr148Ser NA B4DF90 hg19 CCDS32484.1 0.02 -0.377225 TGGxTGC UNCOVERED . . . . . . . . . . g 3.129 -0.178796 0.06380 . . ENSG00000140839 ENST00000429489;ENST00000339953;ENST00000268492 T 0.07688 3.17 3.57 3.57 0.40892 CAP domain (3); 0.557277 0.19650 N 0.109248 T 0.05135 0.0137 N 0.25286 0.73 0.22342 N 0.999188 B;B 0.14012 0.005;0.009 B;B 0.13407 0.007;0.009 T 0.39702 -0.9601 10 0.07030 T 0.85 . 10.55 0.45083 0.0:0.0:1.0:0.0 . 148;148 C9JSV1;Q6UXF7 .;CL18B_HUMAN S 148 ENSP00000341051:T148S ENSP00000268492:T148S T - 2 0 CLEC18B 73009471 0.995000 0.38212 0.998000 0.56505 0.761000 0.43186 1.684000 0.37649 1.821000 0.53095 0.531000 0.56144 ACC NOVEL CLEC18B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434697.1 0 2.407564 KEEP 12 0 0 8 265 GG 0 0 0 - 4 25 149 0 0 11.030129 39 50 1349 68 ENST00000339953.5 0.093023 0.909069 KLHDC4 54758 __UNKNOWN__ __UNKNOWN__ 16 87789970 87789970 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:87789970A>C ENST00000270583.5 - 3 329 KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Intron NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 NA NA breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) ATACTCACGCAACATGGGAAG 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 31 33 32 NA NA NA 16 NA NA 87789970 2196 4299 6495 SO:0001627 intron_variant AK001742 CCDS10963.1, CCDS54050.1, CCDS54051.1 16q24 2008-02-05 ENSG00000104731 ENSG00000104731 54758 25272 protein-coding gene gene with protein product NA NA Standard NM_017566 NM_001184854 NA Approved DKFZp434G0522 uc002fki.3 Q8TBB5 OTTHUMG00000137657 ENST00000270583.5:c.270+34T>G chr16.hg19:g.87789970A>C NA D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3 hg19 CCDS10963.1 0.02 2.313863 CGCxACA COVERED NOVEL KLHDC4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000269109.2 0 5.113963 KEEP 0 0 0 17 495 AA 0.999366 0.973348 0 - 23 60 811 0 0 76.075998 31 60 1074 86 ENST00000270583.5 0.425926 0.973965 MVD 4597 __UNKNOWN__ __UNKNOWN__ 16 88729336 88729336 __UNKNOWN__ Intron SNP G G A rs556272626 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:88729336G>A ENST00000301012.3 - 1 100 MVD_ENST00000568709.1_Intron NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase NA NA cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803) endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) aggacGGAGCGCGCCGCCGAA 0.756 NA NA G||| 2 0.000399361 0 0 5008 , , NA 10376 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U49260 CCDS10968.1 16q24.3 2010-04-29 ENSG00000167508 ENSG00000167508 4597 4.1.1.33 7529 protein-coding gene gene with protein product mevalonate pyrophosphate decarboxylase 603236 NA 8626466 Standard NM_002461 NM_002461 NA Approved MPD uc002flg.1 P53602 OTTHUMG00000137865 ENST00000301012.3:c.70+82C>T chr16.hg19:g.88729336G>A NA Q53Y65 hg19 CCDS10968.1 0.02 1.714643 AGCxCGC COVERED NOVEL MVD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269547.2 0 5.112631 KEEP 0 0 0 17 502 GG 0.999366 0.998235 0 - 26 60 836 0 0 74.652273 51 60 1578 100 ENST00000301012.3 0.337662 0.998867 ZNF276 92822 __UNKNOWN__ __UNKNOWN__ 16 89789380 89789380 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:89789380C>A ENST00000443381.2 + 2 606 ZNF276_ENST00000568064.1_Intron|ZNF276_ENST00000289816.5_Intron|ZNF276_ENST00000446326.2_Intron NM_001113525.1 NP_001106997.1 Q8N554 ZN276_HUMAN zinc finger protein 276 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GTGCCAACAGCCCTGGGACTG 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026482 CCDS10986.1, CCDS45554.1 16q24.3 2014-02-17 2006-02-10 2006-02-10 ENSG00000158805 ENSG00000158805 92822 Zinc fingers, C2H2-type 23330 protein-coding gene gene with protein product centromere protein Z, zinc finger, AD-type 608460 zinc finger protein 276 homolog (mouse) ZFP276 NA 10936049, 20813266 Standard NM_152287 NM_152287 NA Approved MGC45417, ZNF477, CENPZ, CENP-Z, ZADT uc002fos.4 Q8N554 OTTHUMG00000138050 ENST00000443381.2:c.509+138C>A chr16.hg19:g.89789380C>A NA Q0VGA1|Q2TBE8|Q3B7H7 hg19 CCDS45554.1 0.02 1.668431 CAGxCCT COVERED NOVEL ZNF276-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422517.1 1 3.310456 KEEP 0 0 0 11 375 CC 0.993072 0.990255 0 + 28 60 891 0 0 81.834179 43 60 1401 84 ENST00000443381.2 0.394366 0.997163 FAM157C 100996541 __UNKNOWN__ __UNKNOWN__ 16 90239854 90239854 __UNKNOWN__ RNA SNP T T G rs377597472 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr16:90239854T>G ENST00000570230.1 + 0 1556 P0CG43 F157C_HUMAN family with sequence similarity 157, member C NA NA NA CTGAGGCTCCTCCCACTGGAC 0.642 NA NA .||| 733 0.146366 0.1059 0.1628 5008 , , NA 20017 0.002 NA 0.333 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 16q24.3 2013-01-24 2013-01-18 2013-01-18 ENSG00000260528 ENSG00000260528 100996541 34081 other unknown NA NA Standard XR_429804 NA Approved P0CG43 OTTHUMG00000172848 ENST00000570230.1: chr16.hg19:g.90239854T>G NA hg19 0.02 -0.298264 TCCxCCC UNCOVERED NOVEL FAM157C-004 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000420872.1 0 2.407362 KEEP 24 0 0 8 251 TT 0 0 0 + 6 40 187 0 0 14.683812 28 40 989 82 ENST00000570230.1 0.176471 0.78106 RTN4RL1 146760 __UNKNOWN__ __UNKNOWN__ 17 1928013 1928013 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:1928013T>G ENST00000331238.6 - 1 493 NM_178568.2 NP_848663.1 reticulon 4 receptor-like 1 NA NA breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 CCTCGGCGGGTGCGCCCGGCA 0.721 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(68;949 1139 14865 32798 38342) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF532859 CCDS45569.1 17p13.3 2008-02-05 ENSG00000185924 146760 21329 protein-coding gene gene with protein product nogo-66 receptor homolog 2 610461 NA Standard NM_178568 NM_178568 NA Approved NGRH2, NgR3, DKFZp547J144 uc002ftp.3 Q86UN2 ENST00000331238.6:c.13+133A>C chr17.hg19:g.1928013T>G NA hg19 CCDS45569.1 0.02 1.647207 GGGxGCG COVERED NOVEL RTN4RL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450155.2 0 3.915552 KEEP 0 1 5 15 314 TT 0.997832 0.971853 0 - 15 60 157 0 0 9.078956 38 60 758 87 ENST00000331238.6 0.283019 0.973965 OR1G1 8390 __UNKNOWN__ __UNKNOWN__ 17 3030204 3030204 __UNKNOWN__ Silent SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:3030204C>G ENST00000328890.2 - 1 671 c.642G>C c.(640-642)ctG>ctC p.L214L NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 214 NA signal transduction (GO:0007165) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 AAGAGATAATCAGGCAAAGCA 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(127;1481 1654 8243 19426 50557) NA NA 0 98 96 97 NA NA NA 17 NA NA 3030204 2203 4300 6503 SO:0001819 synonymous_variant U04689 CCDS11020.1 17p13.3 2012-08-09 ENSG00000183024 ENSG00000183024 8390 GPCR / Class A : Olfactory receptors 8204 protein-coding gene gene with protein product NA OR1G2 NA 8004088, 9500546 Standard NM_003555 NA Approved OR17-209 uc002fvc.1 P47890 OTTHUMG00000090618 ENST00000328890.2:c.642G>C chr17.hg19:g.3030204C>G NA Q4VBM1|Q6IFL9|Q9UM76 hg19 CCDS11020.1 0.02 9.141604 AATxAGG COVERED NOVEL OR1G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207206.2 0 4.513923 KEEP 0 0 0 15 508 CC 0.99649 0.99649 0 - 97 60 3510 0 0 329.498952 132 60 4809 298 ENST00000328890.2 0.423581 1 OR1G1 8390 __UNKNOWN__ __UNKNOWN__ 17 3030329 3030329 __UNKNOWN__ Missense_Mutation SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:3030329C>T ENST00000328890.2 - 1 546 c.517G>A c.(517-519)Gag>Aag p.E173K NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 173 NA signal transduction (GO:0007165) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 TGTGGGATCTCATGGTTTGCG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(127;1481 1654 8243 19426 50557) NA NA 0 167 153 157 NA NA NA 17 NA NA 3030329 2203 4300 6503 SO:0001583 missense U04689 CCDS11020.1 17p13.3 2012-08-09 ENSG00000183024 ENSG00000183024 8390 GPCR / Class A : Olfactory receptors 8204 protein-coding gene gene with protein product NA OR1G2 NA 8004088, 9500546 Standard NM_003555 NA Approved OR17-209 uc002fvc.1 P47890 OTTHUMG00000090618 ENST00000328890.2:c.517G>A chr17.hg19:g.3030329C>T ENSP00000331545:p.Glu173Lys NA Q4VBM1|Q6IFL9|Q9UM76 hg19 CCDS11020.1 0.02 5.745683 TCTxATG COVERED . . . . . . . . . . C 11.89 1.773462 0.31411 . . ENSG00000183024 ENST00000328890 T 0.00115 8.71 4.53 -1.07 0.09968 GPCR, rhodopsin-like superfamily (1); . . . . T 0.00109 0.0003 L 0.35593 1.075 0.09310 N 1 B 0.06786 0.001 B 0.08055 0.003 T 0.07290 -1.0780 9 0.46703 T 0.11 . 8.8794 0.35365 0.0:0.4995:0.0:0.5005 . 173 P47890 OR1G1_HUMAN K 173 ENSP00000331545:E173K ENSP00000331545:E173K E - 1 0 OR1G1 2977079 0.000000 0.05858 0.000000 0.03702 0.341000 0.28922 -1.496000 0.02291 -0.287000 0.09064 -0.359000 0.07587 GAG NOVEL OR1G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207206.2 1 6.018861 KEEP 0 0 0 20 664 CC 0.999863 0.999863 0 - 79 60 2653 0 0 245.60244 117 60 4173 255 ENST00000328890.2 0.403061 1 OR1G1 8390 __UNKNOWN__ __UNKNOWN__ 17 3030502 3030502 __UNKNOWN__ Missense_Mutation SNP A A C rs141468951 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:3030502A>C ENST00000328890.2 - 1 373 c.344T>G c.(343-345)tTg>tGg p.L115W NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 115 NA signal transduction (GO:0007165) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 CATGACCGCCAAGAGGAATGC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(127;1481 1654 8243 19426 50557) NA NA 0 A TRP/LEU 1,4405 2.1+/-5.4 0,1,2202 78 72 74 NA 344 4.4 0.5 17 dbSNP_134 74 0,8600 0,0,4300 no missense OR1G1 NM_003555.1 61 0,1,6502 CC,CA,AA NA 0.0,0.0227,0.0077 probably-damaging 115/314 3030502 1,13005 2203 4300 6503 SO:0001583 missense U04689 CCDS11020.1 17p13.3 2012-08-09 ENSG00000183024 ENSG00000183024 8390 GPCR / Class A : Olfactory receptors 8204 protein-coding gene gene with protein product NA OR1G2 NA 8004088, 9500546 Standard NM_003555 NA Approved OR17-209 uc002fvc.1 P47890 OTTHUMG00000090618 ENST00000328890.2:c.344T>G chr17.hg19:g.3030502A>C ENSP00000331545:p.Leu115Trp NA Q4VBM1|Q6IFL9|Q9UM76 hg19 CCDS11020.1 0.02 9.199838 GCCxAGA COVERED . . . . . . . . . . A 17.43 3.386597 0.61956 2.27E-4 0.0 ENSG00000183024 ENST00000328890 T 0.07567 3.18 4.4 4.4 0.53042 GPCR, rhodopsin-like superfamily (1); . . . . T 0.42471 0.1204 H 0.96970 3.915 0.25931 N 0.98299 D 0.89917 1.0 D 0.87578 0.998 T 0.51060 -0.8753 9 0.87932 D 0 . 12.7129 0.57100 1.0:0.0:0.0:0.0 . 115 P47890 OR1G1_HUMAN W 115 ENSP00000331545:L115W ENSP00000331545:L115W L - 2 0 OR1G1 2977252 0.909000 0.30893 0.535000 0.28026 0.966000 0.64601 8.300000 0.89948 1.866000 0.54105 0.432000 0.28606 TTG NOVEL OR1G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207206.2 2 4.212265 KEEP 0 0 0 14 422 AA 0.995343 0.995343 0 - 93 60 3295 0 0 310.989548 118 60 4087 253 ENST00000328890.2 0.440758 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 3030907 3030907 __UNKNOWN__ IGR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:3030907C>G NA NA OR1G1 (32 upstream) : CTD-2309O5.3 (7355 downstream) NA NA NA ATTGTGAACTCTGAAAATTAT 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.3030907C>G NA hg19 0.02 16.493399 ACTxTGA COVERED NOVEL 0 0 6.922275 KEEP 0 0 0 23 794 CC 0.999892 0.999892 0 156 60 5697 0 0 535.428544 211 60 7739 474 0.425068 1 SLC52A1 55065 __UNKNOWN__ __UNKNOWN__ 17 4941375 4941375 __UNKNOWN__ Intron SNP G G A rs4790729 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:4941375G>A ENST00000512825.2 - 2 1305 Q9NWF4 S52A1_HUMAN solute carrier family 52 (riboflavin transporter), member 1 NA NA riboflavin transport (GO:0032218) integral component of plasma membrane (GO:0005887) riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618) NA caccacgcccggctaattttt 0.577 NA NA G||| 2702 0.539537 0.7791 0.6311 5008 , , NA 16437 0.2391 NA 0.6322 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY070775 CCDS11066.1 17p13.3 2013-07-17 2013-07-17 2012-02-29 ENSG00000132517 ENSG00000132517 55065 Solute carriers 30225 protein-coding gene gene with protein product riboflavin transporter 1 607883 G protein-coupled receptor 172B GPR172B NA 12740431, 18632736 Standard NM_017986 NM_001104577 NA Approved FLJ10060, GPCR42, PAR2, hRFT1, RFVT1 uc002gao.4 Q9NWF4 OTTHUMG00000099448 ENST00000512825.2:c.107-3367C>T chr17.hg19:g.4941375G>A NA B5MEV1|B5MEV2|Q6P9E0|Q86UT0 hg19 0.02 -0.052618 CCCxGCT UNCOVERED NOVEL SLC52A1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000438891.1 8 3.61125 KEEP 6 0 0 12 395 GG 0 0 0 - 4 54 124 0 0 12.648916 2 14 63 25 ENST00000512825.2 0.666667 0.036766 ZFP3 124961 __UNKNOWN__ __UNKNOWN__ 17 4991905 4991905 __UNKNOWN__ Intron SNP G G A rs9900450 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:4991905G>A ENST00000318833.3 + 2 328 NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 caccatgcccggctaattttt 0.552 NA NA G||| 1253 0.2502 0.0477 0.4424 5008 , , NA 16132 0.1895 NA 0.4702 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX647638 CCDS11067.1 17p13.2 2013-01-08 2012-11-27 ENSG00000180787 ENSG00000180787 124961 Zinc fingers, C2H2-type 12861 protein-coding gene gene with protein product 194480 zinc finger protein homologous to Zfp-3 in mouse, zinc finger protein 3 homolog (mouse) NA Standard NM_153018 NM_153018 NA Approved FLJ30726, ZNF752 uc002gaq.3 Q96NJ6 ENST00000318833.3:c.-8-2887G>A chr17.hg19:g.4991905G>A NA A5PLL4 hg19 CCDS11067.1 0.02 -0.017546 CCCxGCT UNCOVERED NOVEL ZFP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438979.1 6 2.407723 KEEP 3 0 0 8 269 GG 0 0 0 + 2 60 70 0 0 7.95396 0 0 0 11 ENST00000318833.3 1 0 NLGN2 57555 __UNKNOWN__ __UNKNOWN__ 17 7320770 7320770 __UNKNOWN__ Silent SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:7320770T>C ENST00000302926.2 + 7 2233 c.2160T>C c.(2158-2160)tcT>tcC p.S720S NLGN2_ENST00000575301.1_Silent_p.S720S NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 720 NA cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553) cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) GCTCAGGCTCTGGCGTGCCTG 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 11 9 10 NA NA NA 17 NA NA 7320770 2181 4248 6429 SO:0001819 synonymous_variant AB037787 CCDS11103.1 17p13.2 2008-07-18 ENSG00000169992 ENSG00000169992 57555 14290 protein-coding gene gene with protein product 606479 NA 10767552, 10819331 Standard NM_020795 NM_020795 NA Approved KIAA1366 uc002ggt.1 Q8NFZ4 OTTHUMG00000108138 ENST00000302926.2:c.2160T>C chr17.hg19:g.7320770T>C NA Q9P2I1 hg19 CCDS11103.1 0.02 2.123951 CTCxGGC COVERED NOVEL NLGN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226941.2 0 3.513976 KEEP 0 1 6 14 405 TT 0.99649 0.967413 0 + 41 60 1206 0 0 127.729842 12 60 405 88 ENST00000302926.2 0.773585 0.97082 ZBTB4 57659 __UNKNOWN__ __UNKNOWN__ 17 7385479 7385479 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:7385479A>G ENST00000311403.4 - 1 260 SLC35G6_ENST00000412468.2_Missense_Mutation_p.H59R NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 NA NA cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CCCCTTTCTCATATGGCTTAC 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 98 103 101 NA NA NA 17 NA NA 7385479 2203 4300 6503 SO:0001627 intron_variant AB040971 CCDS11107.1 17p13.2 2013-01-09 ENSG00000174282 ENSG00000174282 57659 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 23847 protein-coding gene gene with protein product 612308 NA 12477932 Standard NM_020899 NM_020899 NA Approved KIAA1538, KAISO-L1, ZNF903 uc002ghd.4 Q9P1Z0 OTTHUMG00000108137 ENST00000311403.4:c.79+1843T>C chr17.hg19:g.7385479A>G NA B3KVL6|Q7Z697|Q86XJ4|Q8N4V8 hg19 CCDS11107.1 0.02 1.379936 CTCxTAT COVERED . . . . . . . . . . G 0.010 -1.796575 0.00617 . . ENSG00000181222 ENST00000412468 T 0.16597 2.33 4.21 3.24 0.37175 . . . . . T 0.04679 0.0127 N 0.00926 -1.1 0.20703 N 0.999863 B 0.02656 0.0 B 0.01281 0.0 T 0.39683 -0.9602 9 0.02654 T 1 -1.8351 9.504 0.39035 0.181:0.0:0.819:0.0 . 59 P0C7Q6 S35G6_HUMAN R 59 ENSP00000396523:H59R ENSP00000396523:H59R H + 2 0 SLC35G6 7326203 1.000000 0.71417 0.996000 0.52242 0.106000 0.19336 3.612000 0.54142 0.373000 0.24621 -0.355000 0.07637 CAT NOVEL ZBTB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226940.2 0 10.834104 KEEP 1 1 31 47 1304 AA 1 0.999317 0 - 5 24 157 0 0 9.942905 76 60 2573 134 ENST00000311403.4 0.061728 0.999317 TP53 7157 __UNKNOWN__ __UNKNOWN__ 17 7578443 7578443 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:7578443A>G ENST00000269305.4 - 5 676 c.487T>C c.(487-489)Tac>Cac p.Y163H TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A. NA Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) Acetylsalicylic acid(DB00945) GACTGCTTGTAGATGGCCATG 0.622 NA 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 71 Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1) breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1) 53 54 53 NA NA NA 17 NA NA 7578443 2203 4300 6503 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; AF307851 CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1 17p13.1 2014-09-17 2008-01-16 ENSG00000141510 ENSG00000141510 7157 11998 protein-coding gene gene with protein product Li-Fraumeni syndrome 191170 NA 6396087, 3456488, 2047879 Standard NM_000546 NM_001126115 NA Approved p53, LFS1 uc002gij.3 P04637 OTTHUMG00000162125 ENST00000269305.4:c.487T>C chr17.hg19:g.7578443A>G ENSP00000269305:p.Tyr163His NA Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61 hg19 CCDS11118.1 0.02 4.457886 TGTxGAT COVERED . . . . . . . . . . A 15.72 2.916592 0.52546 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793 D;D;D;D;D;D;D;D;D 0.99869 -7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33 5.59 4.52 0.55395 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.062225 0.64402 D 0.000003 D 0.99843 0.9928 M 0.89478 3.035 0.53005 D 0.999963 D;D;D;D;D;D;D 0.89917 0.997;1.0;0.998;1.0;1.0;1.0;0.999 D;D;D;D;D;D;D 0.91635 0.996;0.999;0.983;0.999;0.999;0.999;0.994 D 0.97202 0.9865 10 0.87932 D 0 -16.6607 9.9777 0.41795 0.9196:0.0:0.0804:0.0 . 124;163;163;70;163;163;163 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. H 163;163;163;163;163;163;152;70;31;70;31;163 ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H ENSP00000269305:Y163H Y - 1 0 TP53 7519168 1.000000 0.71417 0.998000 0.56505 0.047000 0.14425 9.287000 0.95975 1.067000 0.40740 -0.256000 0.11100 TAC NOVEL TP53-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367397.1 1 22.864929 KEEP 0 0 0 76 2267 AA 1 0.999997 0 - 70 60 2451 0 0 244.641671 46 60 1608 234 ENST00000269305.4 0.603448 0.999997 COX10 1352 __UNKNOWN__ __UNKNOWN__ 17 14095752 14095752 __UNKNOWN__ Intron SNP A A G rs369739032 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:14095752A>G ENST00000261643.3 + 6 1005 COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_Intron NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) NA NA aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495) cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) ACTTTCCCTTATAGGGAATGT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U09466 CCDS11166.1 17p12 2013-05-24 2012-10-15 ENSG00000006695 ENSG00000006695 1352 Mitochondrial respiratory chain complex assembly factors 2260 protein-coding gene gene with protein product heme A: farnesyltransferase, protoheme IX farnesyltransferase, mitochondrial, heme O synthase 602125 COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase), COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) NA 9177788, 12928484 Standard NM_001303 NM_001303 NA Approved uc002gof.4 Q12887 OTTHUMG00000058814 ENST00000261643.3:c.928+214A>G chr17.hg19:g.14095752A>G NA B2R6U5|B4DJ50|O15334|Q969F7 hg19 CCDS11166.1 0.02 -0.421058 CTTxTAG COVERED NOVEL COX10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130003.1 2 2.706817 KEEP 2 0 0 9 253 AA 0.99254 0.941327 0 + 6 39 212 0 0 16.210275 42 60 1418 66 ENST00000261643.3 0.125 0.948402 NCOR1 9611 __UNKNOWN__ __UNKNOWN__ 17 16098057 16098057 __UNKNOWN__ Intron SNP T T G rs199955216 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:16098057T>G ENST00000268712.3 - 2 188 NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 NA NA CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAATTACCAGTAAAAGCTTCC 0.259 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044209 CCDS11175.1, CCDS54094.1, CCDS54095.1 17p11.2 2014-06-12 2010-06-10 ENSG00000141027 ENSG00000141027 9611 7672 protein-coding gene gene with protein product thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109 600849 nuclear receptor co-repressor 1 NA 7566114, 9724795 Standard NM_006311 NM_006311 NA Approved N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109 uc002gpo.3 O75376 OTTHUMG00000059309 ENST00000268712.3:c.70-104A>C chr17.hg19:g.16098057T>G NA B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18 hg19 CCDS11175.1 0.02 2.047381 CAGxAAA COVERED NOVEL NCOR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131751.5 1 3.609411 KEEP 2 0 0 12 350 TT 0.993634 0.991545 0 - 5 60 174 0 0 12.639121 47 60 1547 87 ENST00000268712.3 0.096154 0.997898 NCOR1 9611 __UNKNOWN__ __UNKNOWN__ 17 16098073 16098073 __UNKNOWN__ Intron SNP T T G rs200958402 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:16098073T>G ENST00000268712.3 - 2 188 NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 NA NA CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTCCTCTCATGTATTTACTT 0.239 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044209 CCDS11175.1, CCDS54094.1, CCDS54095.1 17p11.2 2014-06-12 2010-06-10 ENSG00000141027 ENSG00000141027 9611 7672 protein-coding gene gene with protein product thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109 600849 nuclear receptor co-repressor 1 NA 7566114, 9724795 Standard NM_006311 NM_006311 NA Approved N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109 uc002gpo.3 O75376 OTTHUMG00000059309 ENST00000268712.3:c.70-120A>C chr17.hg19:g.16098073T>G NA B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18 hg19 CCDS11175.1 0.02 2.191034 TCAxGTA COVERED NOVEL NCOR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131751.5 1 2.4067 KEEP 2 0 0 8 238 TT 0.99257 0.988831 0 - 9 60 323 0 0 26.626405 38 60 1319 79 ENST00000268712.3 0.191489 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 19884735 19884735 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:19884735T>C NA NA AKAP10 (3079 upstream) : RP11-209D14.2 (26628 downstream) NA NA NA tttcttttttttttttagacg 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.19884735T>C NA hg19 0.02 -0.02632 TTTxTTT UNCOVERED NOVEL 0 3 2.707022 KEEP 0 0 0 9 260 TT 0.99254 0 0 2 60 75 0 0 7.624901 1 60 35 15 0.666667 0 CCDC144NL 339184 __UNKNOWN__ __UNKNOWN__ 17 20768447 20768447 __UNKNOWN__ 3'UTR SNP A A G rs201525365 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:20768447A>G ENST00000327925.5 - 0 1066 CCDC144NL_ENST00000539484.1_Intron NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like NA NA large_intestine(3)|lung(3)|skin(1) 7 AAAAATTTAGATACTATCTCT 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32591.1 17p11.2 2009-01-15 ENSG00000205212 ENSG00000205212 339184 33735 protein-coding gene gene with protein product NA NA Standard NM_001004306 NM_001004306 NA Approved MGC87631 uc002gyf.3 Q6NUI1 OTTHUMG00000132271 ENST00000327925.5:c.*281T>C chr17.hg19:g.20768447A>G NA hg19 CCDS32591.1 0.02 16.265333 TAGxTAC COVERED NOVEL CCDC144NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255361.2 1 4.847347 KEEP 60 1 31 27 824 AA 0.999957 0.999957 0 - 16 60 529 0 0 33.039154 318 60 10871 584 ENST00000327925.5 0.047904 1 CCDC144NL 339184 __UNKNOWN__ __UNKNOWN__ 17 20768458 20768458 __UNKNOWN__ 3'UTR SNP T T C rs76842998 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:20768458T>C ENST00000327925.5 - 0 1055 CCDC144NL_ENST00000539484.1_Intron NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like NA NA large_intestine(3)|lung(3)|skin(1) 7 TACTATCTCTTCAAAATAAGC 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32591.1 17p11.2 2009-01-15 ENSG00000205212 ENSG00000205212 339184 33735 protein-coding gene gene with protein product NA NA Standard NM_001004306 NM_001004306 NA Approved MGC87631 uc002gyf.3 Q6NUI1 OTTHUMG00000132271 ENST00000327925.5:c.*270A>G chr17.hg19:g.20768458T>C NA hg19 CCDS32591.1 0.02 19.645882 TCTxCAA COVERED NOVEL CCDC144NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255361.2 1 6.650272 KEEP 89 1 31 33 971 TT 0.999997 0.999997 0 - 17 40 617 0 0 39.325222 381 60 13056 675 ENST00000327925.5 0.042714 1 CCDC144NL 339184 __UNKNOWN__ __UNKNOWN__ 17 20768691 20768691 __UNKNOWN__ 3'UTR SNP C C T rs75640454 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:20768691C>T ENST00000327925.5 - 0 822 CCDC144NL_ENST00000539484.1_Intron NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like NA NA large_intestine(3)|lung(3)|skin(1) 7 TTCTTAAAGGCAAAAGTTAAT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 65 60 62 NA NA NA 17 NA NA 20768691 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS32591.1 17p11.2 2009-01-15 ENSG00000205212 ENSG00000205212 339184 33735 protein-coding gene gene with protein product NA NA Standard NM_001004306 NM_001004306 NA Approved MGC87631 uc002gyf.3 Q6NUI1 OTTHUMG00000132271 ENST00000327925.5:c.*37G>A chr17.hg19:g.20768691C>T NA hg19 CCDS32591.1 0.02 22.478075 AGGxAAA COVERED NOVEL CCDC144NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255361.2 2 7.326875 KEEP 7 3 90 56 1933 CC 1 1 0 - 71 60 2352 0 0 182.262648 402 60 14571 740 ENST00000327925.5 0.150106 1 CCDC144NL 339184 __UNKNOWN__ __UNKNOWN__ 17 20768912 20768912 __UNKNOWN__ Intron SNP C C G rs186155723 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:20768912C>G ENST00000327925.5 - 4 691 CCDC144NL_ENST00000539484.1_Intron NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like NA NA large_intestine(3)|lung(3)|skin(1) 7 GTGACTCTTGCATAGCTCCAG 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32591.1 17p11.2 2009-01-15 ENSG00000205212 ENSG00000205212 339184 33735 protein-coding gene gene with protein product NA NA Standard NM_001004306 NM_001004306 NA Approved MGC87631 uc002gyf.3 Q6NUI1 OTTHUMG00000132271 ENST00000327925.5:c.572-90G>C chr17.hg19:g.20768912C>G NA hg19 CCDS32591.1 0.02 3.968596 TTGxATA COVERED NOVEL CCDC144NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255361.2 1 2.407857 KEEP 5 0 0 8 281 CC 0.99257 0.99257 0 - 9 40 314 0 0 21.588565 118 60 4285 164 ENST00000327925.5 0.070866 1 MAP2K3 5606 __UNKNOWN__ __UNKNOWN__ 17 21194013 21194013 __UNKNOWN__ Intron SNP A A G rs73984412 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:21194013A>G ENST00000342679.4 + 1 298 MAP2K3_ENST00000534743.1_Intron|MAP2K3_ENST00000361818.5_Intron|MAP2K3_ENST00000316920.6_Intron NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 NA NA activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) NA COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GATAaatcccagcctttggga 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36719 CCDS11217.1, CCDS11218.1 17q11.2 2011-06-09 ENSG00000034152 ENSG00000034152 5606 Mitogen-activated protein kinase cascade / Kinase kinases 6843 protein-coding gene gene with protein product MAPK/ERK kinase 3, MAP kinase kinase 3, dual specificity mitogen activated protein kinase kinase 3 602315 PRKMK3 NA 9465908 Standard NM_145109 NM_145109 NA Approved MEK3, MKK3, MAPKK3 uc002gys.3 P46734 OTTHUMG00000134322 ENST00000342679.4:c.49+5732A>G chr17.hg19:g.21194013A>G NA B3KSK7|Q99441|Q9UE71|Q9UE72 hg19 CCDS11217.1 0.02 -0.087637 CCCxGCC UNCOVERED NOVEL MAP2K3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259374.2 2 2.407212 KEEP 0 0 0 8 248 AA 0.99257 0.09898 0 + 6 60 157 0 0 15.628793 4 60 146 19 ENST00000342679.4 0.6 0.099721 MAP2K3 5606 __UNKNOWN__ __UNKNOWN__ 17 21194024 21194024 __UNKNOWN__ Intron SNP G G T rs79337823 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:21194024G>T ENST00000342679.4 + 1 298 MAP2K3_ENST00000534743.1_Intron|MAP2K3_ENST00000361818.5_Intron|MAP2K3_ENST00000316920.6_Intron NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 NA NA activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) NA COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) gcctttgggaggccgagacag 0.438 NA NA g||| 2487 0.496605 0.4811 0.5058 5008 , , NA 38532 0.501 NA 0.504 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36719 CCDS11217.1, CCDS11218.1 17q11.2 2011-06-09 ENSG00000034152 ENSG00000034152 5606 Mitogen-activated protein kinase cascade / Kinase kinases 6843 protein-coding gene gene with protein product MAPK/ERK kinase 3, MAP kinase kinase 3, dual specificity mitogen activated protein kinase kinase 3 602315 PRKMK3 NA 9465908 Standard NM_145109 NM_145109 NA Approved MEK3, MKK3, MAPKK3 uc002gys.3 P46734 OTTHUMG00000134322 ENST00000342679.4:c.49+5743G>T chr17.hg19:g.21194024G>T NA B3KSK7|Q99441|Q9UE71|Q9UE72 hg19 CCDS11217.1 0.02 -0.087723 GGAxGCC UNCOVERED NOVEL MAP2K3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259374.2 2 2.407834 KEEP 0 0 0 8 282 GG 0.99257 0.09898 0 + 6 60 201 0 0 20.038465 4 60 149 20 ENST00000342679.4 0.6 0.099721 KCNJ12 3768 __UNKNOWN__ __UNKNOWN__ 17 21320365 21320365 __UNKNOWN__ 3'UTR SNP T T C rs62049522 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:21320365T>C ENST00000583088.1 + 0 2606 KCNJ12_ENST00000331718.5_3'UTR NM_021012.4 NP_066292.2 Q14500 KCJ12_HUMAN potassium inwardly-rectifying channel, subfamily J, member 12 NA NA muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886) inward rectifier potassium channel activity (GO:0005242) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204)|Yohimbine(DB01392) TCAGCTTTCTTGACCTTAGCT 0.428 NA NA Prostate(3;0.18) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L36069 CCDS11219.1 17p11.1 2011-07-05 2004-01-13 ENSG00000184185 ENSG00000184185 3768 Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying 6258 protein-coding gene gene with protein product 602323 potassium inwardly-rectifying channel, subfamily J, inhibitor 1 KCNJN1 NA 7859381, 12417321, 16382105 Standard NM_021012 NM_021012 NA Approved Kir2.2, Kir2.2v, IRK2, hIRK1 uc021tss.1 Q14500 OTTHUMG00000132039 ENST00000583088.1:c.*409T>C chr17.hg19:g.21320365T>C NA O43401|Q15756|Q8NG63 hg19 CCDS11219.1 0.02 4.440588 TCTxGAC COVERED NOVEL KCNJ12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255060.2 0 3.309753 KEEP 0 0 0 11 334 TT 0.993072 0.993071 0 + 30 70 966 0 0 82.653577 82 70 2770 167 ENST00000583088.1 0.267857 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22253144 22253144 __UNKNOWN__ IGR SNP T T C rs4107688 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:22253144T>C NA NA RP11-285M22.1 (60204 upstream) : None (None downstream) NA NA NA cttgggcctctctgaggattt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.22253144T>C NA hg19 0.02 13.108191 CTCxCTG COVERED NOVEL 0 55 7.825928 KEEP 61 3 97 60 1845 TT 1 1 0 24 46 841 0 0 72.36702 70 47 2460 504 0.255319 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22253158 22253158 __UNKNOWN__ IGR SNP T T G rs6565430 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:22253158T>G NA NA RP11-285M22.1 (60218 upstream) : None (None downstream) NA NA NA aggatttcgttggaaacggga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.22253158T>G NA hg19 0.02 15.073354 CGTxGGA COVERED NOVEL 0 81 24.971425 KEEP 42 0 0 83 2511 TT 1 1 0 14 46 510 0 0 39.414314 97 47 3393 624 0.126126 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22258530 22258530 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:22258530T>G NA NA RP11-285M22.1 (65590 upstream) : None (None downstream) NA NA NA agcgcagttttgaaactctct 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.22258530T>G NA hg19 0.02 4.000467 TTTxGAA COVERED NOVEL 0 9 9.627324 KEEP 54 0 0 32 957 TT 0.997832 0.997831 0 4 44 149 1 0 12.46256 16 34 555 270 0.2 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22260712 22260712 __UNKNOWN__ IGR SNP T T G rs8074924 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:22260712T>G NA NA RP11-285M22.1 (67772 upstream) : None (None downstream) NA NA NA atcccagaattgaaccttcct 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.22260712T>G NA hg19 0.02 2.313868 AATxGAA UNCOVERED NOVEL 0 5 3.309104 KEEP 68 0 0 11 320 TT 0 0 0 15 40 552 0 0 50.467338 27 48 972 141 0.357143 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 25264985 25264985 __UNKNOWN__ IGR SNP C C G rs112039655 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:25264985C>G NA NA None (None upstream) : RP11-260A9.6 (51229 downstream) NA NA NA agattgtgcactgcactccaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.25264985C>G NA hg19 0.02 2.094515 GCAxTGC COVERED NOVEL 0 21 5.948813 KEEP 8 1 35 32 1092 CC 0.999997 0.999107 0 3 60 114 0 1 9.57168 12 60 455 138 0.2 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 25296963 25296963 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:25296963C>A NA NA None (None upstream) : RP11-260A9.6 (19251 downstream) NA NA NA caagtgcatgccaccatgcca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.25296963C>A NA hg19 0.02 -0.131537 ATGxCAC COVERED NOVEL 0 4 3.61173 KEEP 3 0 0 12 415 CC 0.992708 0.227502 0 3 60 104 0 0 8.901825 9 60 303 33 0.25 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 26974989 26974989 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:26974989T>C NA NA KIAA0100 (2517 upstream) : SDF2 (384 downstream) NA NA NA gcctgtaatctcagcactttg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.26974989T>C NA hg19 0.02 -0.043857 ATCxCAG UNCOVERED NOVEL 0 2 3.009118 KEEP 0 0 0 10 313 TT 0.992708 0.023898 0 2 60 74 0 0 6.893084 3 60 96 20 0.4 0.024074 RPL23A 6147 __UNKNOWN__ __UNKNOWN__ 17 27051356 27051356 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:27051356G>A ENST00000422514.2 + 0 1541 NM_000984.5 NP_000975.2 P62750 RL23A_HUMAN ribosomal protein L23a NA NA cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) endometrium(1)|lung(3)|ovary(1) 5 Lung NSC(42;0.00431) GCCCAATAAAGGACAAGGACT 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U43701 CCDS11241.1 17q11.2 2011-04-06 ENSG00000198242 ENSG00000198242 6147 L ribosomal proteins 10317 protein-coding gene gene with protein product 602326 NA 9417910 Standard NM_000984 NM_000984 NA Approved L23A uc002hci.3 P62750 OTTHUMG00000132684 ENST00000422514.2:c.*457G>A chr17.hg19:g.27051356G>A NA B2R5B2|P29316|P39024|Q92774 hg19 CCDS11241.1 0.02 1.89888 AAAxGAC COVERED NOVEL RPL23A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255975.1 2 5.116156 KEEP 0 0 0 17 580 GG 0.999366 0.999202 0 + 39 60 1379 0 0 129.787284 51 60 1753 120 ENST00000422514.2 0.433333 0.999835 NEK8 284086 __UNKNOWN__ __UNKNOWN__ 17 27065199 27065199 __UNKNOWN__ Silent SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:27065199G>A ENST00000268766.6 + 8 1192 c.1158G>A c.(1156-1158)gaG>gaA p.E386E AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 386 NA organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) GTTTCCTGGAGGGCCAGTCGG 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(6;19 293 14866 25253 49845) NA NA 0 101 81 88 NA NA NA 17 NA NA 27065199 2203 4300 6503 SO:0001819 synonymous_variant AY267371 CCDS32597.1 17q11.1 2012-11-15 2012-11-15 ENSG00000160602 284086 13387 protein-coding gene gene with protein product 609799 NIMA (never in mitosis gene a)- related kinase 8 NA 18199800 Standard NM_178170 NA Approved NPHP9 uc002hcp.3 Q86SG6 ENST00000268766.6:c.1158G>A chr17.hg19:g.27065199G>A NA A6NIC5|Q14CL7|Q2M1S6|Q8NDH1 hg19 CCDS32597.1 0.02 4.12127 GGAxGGC COVERED . . . . . . . . . . G 10.53 1.376804 0.24857 . . ENSG00000160602 ENST00000543014 T 0.76186 -1.0 5.69 -0.74 0.11115 . . . . . T 0.74207 0.3686 . . . 0.80722 D 1 . . . . . . T 0.70070 -0.4973 6 0.87932 D 0 . 5.8613 0.18749 0.344:0.1251:0.5309:0.0 . . . . R 440 ENSP00000465859:G440R ENSP00000446066:G440R G + 1 0 NEK8 24089326 1.000000 0.71417 0.991000 0.47740 0.992000 0.81027 2.173000 0.42472 -0.336000 0.08438 -0.140000 0.14226 GGG NOVEL NEK8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446467.2 0 11.136514 KEEP 0 0 0 37 1326 GG 1 1 0 + 68 60 2447 0 0 234.18142 75 60 2670 251 ENST00000268766.6 0.475524 1 CDC6 990 __UNKNOWN__ __UNKNOWN__ 17 38451565 38451565 __UNKNOWN__ Intron SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:38451565A>T ENST00000209728.4 + 8 1554 NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 NA NA DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 ACAGAGGGAGAATCTTATGGT 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 109 104 106 NA NA NA 17 NA NA 38451565 2203 4300 6503 SO:0001627 intron_variant U77949 CCDS11365.1 17q21.3 2013-01-17 2013-01-17 ENSG00000094804 ENSG00000094804 990 1744 protein-coding gene gene with protein product 602627 CDC6 (cell division cycle 6, S. cerevisiae) homolog, CDC6 cell division cycle 6 homolog (S. cerevisiae), cell division cycle 6 homolog (S. cerevisiae) CDC18L NA 8990175, 9566895 Standard NM_001254 NA Approved uc002huj.1 Q99741 OTTHUMG00000133324 ENST00000209728.4:c.1084-43A>T chr17.hg19:g.38451565A>T NA Q8TB30 hg19 CCDS11365.1 0.02 3.470882 GAGxATC COVERED NOVEL CDC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257129.1 1 7.200561 KEEP 0 0 0 24 708 AA 0.999909 0.999909 0 + 59 60 1880 0 0 172.704009 90 60 3069 198 ENST00000209728.4 0.395973 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 39032186 39032186 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:39032186T>G NA NA KRT12 (8724 upstream) : KRT20 (6 downstream) NA NA NA CAAAGGGGGTTTTACAATTCA 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.39032186T>G NA hg19 0.02 4.164983 GGTxTTA COVERED NOVEL 0 1 9.610716 KEEP 0 0 0 32 989 TT 0.999997 0.999997 0 53 60 1843 0 0 169.670747 85 60 2899 220 0.384058 1 KRTAP9-2 83899 __UNKNOWN__ __UNKNOWN__ 17 39383027 39383027 __UNKNOWN__ Missense_Mutation SNP G G T rs71371478 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:39383027G>T ENST00000377721.3 + 1 128 c.121G>T c.(121-123)Gcc>Tcc p.A41S KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.A41S NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 41 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. NA keratin filament (GO:0045095) p.A41S(1) large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CTGCCAGCCCGCCTGCTGTGT 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) skin(1) 59 53 55 NA NA NA 17 NA NA 39383027 2203 4300 6503 SO:0001583 missense AJ406946 CCDS32651.1 17q21.2 2013-06-25 ENSG00000239886 ENSG00000239886 83899 Keratin associated proteins 16926 protein-coding gene gene with protein product NA NA 11279113 Standard NM_031961 NA Approved KAP9.2 uc002hwf.3 Q9BYQ4 OTTHUMG00000133609 ENST00000377721.3:c.121G>T chr17.hg19:g.39383027G>T ENSP00000366950:p.Ala41Ser NA Q17RK8|Q2TB15|Q6ISF6 hg19 CCDS32651.1 0.02 1.912679 CCCxCCT COVERED . . . . . . . . . . . 0.006 -2.020245 0.00418 . . ENSG00000239886 ENST00000377721;ENST00000455970 T;T 0.01192 5.2;5.4 2.86 -2.81 0.05805 . . . . . T 0.00328 0.0010 N 0.00368 -1.59 0.09310 N 0.999997 B 0.02656 0.0 B 0.01281 0.0 T 0.39742 -0.9599 9 0.02654 T 1 . 5.0512 0.14508 0.3642:0.0:0.0934:0.5425 . 41 Q9BYQ4 KRA92_HUMAN S 41 ENSP00000366950:A41S;ENSP00000398325:A41S ENSP00000366950:A41S A + 1 0 KRTAP9-2 36636553 0.000000 0.05858 0.088000 0.20740 0.203000 0.24098 -1.973000 0.01500 -1.243000 0.02519 -4.519000 0.00005 GCC NOVEL KRTAP9-2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257717.1 1 3.310481 KEEP 6 0 0 11 374 GG 0.993072 0.991948 0 + 9 27 311 0 0 23.446601 66 60 2129 112 ENST00000377721.3 0.12 0.998867 KRTAP9-4 85280 __UNKNOWN__ __UNKNOWN__ 17 39406166 39406166 __UNKNOWN__ Missense_Mutation SNP C C T rs146098518 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:39406166C>T ENST00000334109.2 + 1 228 c.194C>T c.(193-195)aCc>aTc p.T65I NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 65 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. NA keratin filament (GO:0045095) breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCCAGCCCACCTGTGTGACC 0.642 NA NA .||| 10 0.00199681 0.0076 0 5008 , , NA 20313 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 C ILE/THR 10,4396 0,10,2193 78 70 73 NA 194 -1.1 0 17 dbSNP_134 73 14,8586 0,14,4286 no missense KRTAP9-4 NM_033191.2 89 0,24,6479 TT,TC,CC NA 0.1628,0.227,0.1845 benign 65/155 39406166 24,12982 2203 4300 6503 SO:0001583 missense AJ406948 CCDS11386.1 17q21.2 2013-06-25 ENSG00000241595 ENSG00000241595 85280 Keratin associated proteins 18902 protein-coding gene gene with protein product NA NA 11279113 Standard NM_033191 NA Approved KAP9.4 uc002hwi.3 Q9BYQ2 OTTHUMG00000133438 ENST00000334109.2:c.194C>T chr17.hg19:g.39406166C>T ENSP00000334922:p.Thr65Ile NA Q0VAE3 hg19 CCDS11386.1 0.02 1.569691 CCAxCTG COVERED . . . . . . . . . . . 10.39 1.337315 0.24253 0.00227 0.001628 ENSG00000241595 ENST00000334109 T 0.01106 5.33 2.6 -1.07 0.09968 . . . . . T 0.01092 0.0036 L 0.27053 0.805 0.18873 N 0.999983 B 0.28233 0.204 B 0.32724 0.151 T 0.47315 -0.9127 9 0.49607 T 0.09 . 5.9748 0.19373 0.0:0.5253:0.3521:0.1226 . 65 Q9BYQ2 KRA94_HUMAN I 65 ENSP00000334922:T65I ENSP00000334922:T65I T + 2 0 KRTAP9-4 36659692 0.000000 0.05858 0.010000 0.14722 0.110000 0.19582 -0.857000 0.04286 -0.158000 0.11040 0.505000 0.49811 ACC NOVEL KRTAP9-4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257306.1 1 3.90935 KEEP 0 0 0 13 416 CC 0.995343 0.994753 0 + 4 40 140 0 0 8.970699 78 60 2741 105 ENST00000334109.2 0.04878 0.999407 KLHL10 317719 __UNKNOWN__ __UNKNOWN__ 17 40003756 40003756 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:40003756G>T ENST00000293303.4 + 4 1605 NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 NA NA cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286) cytoplasm (GO:0005737) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) GTAAGTATTTGAAAAGCtttt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057224 CCDS42340.1 17q21.2 2013-01-30 2013-01-30 ENSG00000161594 ENSG00000161594 317719 Kelch-like, BTB/POZ domain containing 18829 protein-coding gene gene with protein product 608778 kelch-like 10 (Drosophila) NA Standard NM_152467 NM_152467 NA Approved FLJ32662 uc010cxr.3 Q6JEL2 OTTHUMG00000152510 ENST00000293303.4:c.1452+94G>T chr17.hg19:g.40003756G>T NA Q6NW28|Q96MC0 hg19 CCDS42340.1 0.02 2.496669 TTTxAAA COVERED NOVEL KLHL10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326535.1 0 3.031629 KEEP 0 3 23 19 604 GG 0.999879 0.999879 0 + 13 60 250 0 0 12.853339 134 70 4044 191 ENST00000293303.4 0.088435 1 MLX 6945 __UNKNOWN__ __UNKNOWN__ 17 40719533 40719533 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:40719533C>A ENST00000246912.4 + 2 257 MLX_ENST00000346833.4_Intron|MLX_ENST00000435881.2_Intron NM_170607.2 NP_733752.1 Q9UH92 MLX_HUMAN MLX, MAX dimerization protein NA NA energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 10 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) GTGACAGAGGCGCCTTCCCGG 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(121;657 1601 4665 24731 34640) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF213668 CCDS11430.1, CCDS42341.1, CCDS45687.1 17q21.1 2013-05-21 2012-11-15 2005-02-11 ENSG00000108788 6945 MAX dimerization proteins, Basic helix-loop-helix proteins 11645 protein-coding gene gene with protein product 602976 transcription factor-like 4, MAX-like protein X TCFL4 NA 8973301 Standard NM_170607 NM_170607 NA Approved MAD7, MXD7, bHLHd13 uc002iag.3 Q9UH92 ENST00000246912.4:c.205-104C>A chr17.hg19:g.40719533C>A NA A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3 hg19 CCDS11430.1 0.02 -0.337149 AGGxGCC COVERED NOVEL MLX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000450415.1 0 2.609336 KEEP 0 0 0 9 205 CC 0.99254 0.87116 0 + 8 60 116 0 0 6.932703 31 60 840 52 ENST00000246912.4 0.205128 0.877708 PLEKHH3 79990 __UNKNOWN__ __UNKNOWN__ 17 40825071 40825071 __UNKNOWN__ Intron SNP C C G rs575178578 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:40825071C>G ENST00000591022.1 - 6 1157 PLEKHH3_ENST00000293349.6_Intron|PLEKHH3_ENST00000412503.1_Intron|PLEKHH3_ENST00000456950.2_Intron NM_024927.4 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 NA NA signal transduction (GO:0007165) cytoskeleton (GO:0005856)|extracellular space (GO:0005615) endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) CTTCATCCTTCGAAAAGTGAG 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC052978 CCDS11434.1 17q21.2 2013-01-11 ENSG00000068137 79990 Pleckstrin homology (PH) domain containing 26105 protein-coding gene gene with protein product NA NA 12477932 Standard NM_024927 NM_024927 NA Approved FLJ21019 uc002iau.3 Q7Z736 ENST00000591022.1:c.769+122G>C chr17.hg19:g.40825071C>G NA C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18 hg19 CCDS11434.1 0.02 -0.403558 CTTxGAA COVERED NOVEL PLEKHH3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000452332.1 0 4.213473 KEEP 0 0 0 14 471 CC 0.995343 0.93014 0 - 13 60 474 0 0 41.708299 33 60 1175 61 ENST00000591022.1 0.282609 0.934492 C17orf104 284071 __UNKNOWN__ __UNKNOWN__ 17 42746983 42746983 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:42746983T>C ENST00000409122.2 + 6 2599 C17orf104_ENST00000409464.1_3'UTR NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 NA NA autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 atcccaccactttgggaggcc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45703.1, CCDS45703.2 17q21.31 2009-09-08 ENSG00000180336 ENSG00000180336 284071 26670 protein-coding gene gene with protein product NA NA Standard NM_001145080 NM_001145080 NA Approved FLJ35848 uc002iha.3 A2RUB1 OTTHUMG00000153039 ENST00000409122.2:c.2457+98T>C chr17.hg19:g.42746983T>C NA B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45 hg19 CCDS45703.2 0.02 6.734384 CACxTTG COVERED NOVEL C17orf104-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329171.2 5 18.055101 KEEP 0 0 0 60 1906 TT 1 1 0 + 73 60 2583 0 0 244.441053 90 60 2966 240 ENST00000409122.2 0.447853 1 RP11-156P1.3 0 __UNKNOWN__ __UNKNOWN__ 17 45127107 45127107 __UNKNOWN__ RNA SNP C C G rs374963948 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:45127107C>G ENST00000575173.1 - 0 418 NA NA NA CCTTCGTTCACCCAAGAGCAT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000575173.1: chr17.hg19:g.45127107C>G NA hg19 0.02 4.680406 TCAxCCA COVERED NOVEL RP11-156P1.3-009 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000440924.1 2 2.944117 KEEP 0 1 32 21 704 CC 0.999892 0.999865 0 - 20 25 740 0 0 61.621122 82 48 2892 131 ENST00000575173.1 0.196078 0.999973 CDC27 996 __UNKNOWN__ __UNKNOWN__ 17 45234303 45234303 __UNKNOWN__ Missense_Mutation SNP G G C rs200611688 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:45234303G>C ENST00000531206.1 - 7 821 c.818C>G c.(817-819)gCa>gGa p.A273G CDC27_ENST00000066544.3_Missense_Mutation_p.A273G|CDC27_ENST00000446365.2_Missense_Mutation_p.A212G|CDC27_ENST00000527547.1_Missense_Mutation_p.A273G P30260 CDC27_HUMAN cell division cycle 27 273 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) protein phosphatase binding (GO:0019903) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 ACTAAGAGCTGCTGGTCCTCC 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 62 66 65 NA NA NA 17 NA NA 45234303 2201 4293 6494 SO:0001583 missense U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 996 Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing 1728 protein-coding gene gene with protein product anaphase promoting complex subunit 3 116946 cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae) D0S1430E, D17S978E NA 8234252 Standard XM_005257892 NA Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000531206.1:c.818C>G chr17.hg19:g.45234303G>C ENSP00000434614:p.Ala273Gly NA G3V1C4|Q16349|Q96F35 hg19 CCDS45720.1 0.02 13.691204 GCTxCTG COVERED . . . . . . . . . . G 15.95 2.983381 0.53827 . . ENSG00000004897 ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866 T;T;T;T;T 0.69175 -0.37;-0.38;-0.11;-0.36;0.76 5.64 5.64 0.86602 . 0.116892 0.56097 D 0.000021 T 0.54647 0.1871 L 0.29908 0.895 0.51233 D 0.999911 B;P;P;B 0.43094 0.304;0.629;0.799;0.304 B;B;B;B 0.36092 0.15;0.213;0.217;0.046 T 0.57911 -0.7729 10 0.40728 T 0.16 -26.4879 17.2083 0.86924 0.0:0.0:1.0:0.0 . 212;273;273;273 B4DL80;G5EA36;G3V1C4;P30260 .;.;.;CDC27_HUMAN G 273;273;212;273;273 ENSP00000066544:A273G;ENSP00000434614:A273G;ENSP00000392802:A212G;ENSP00000437339:A273G;ENSP00000432105:A273G ENSP00000066544:A273G A - 2 0 CDC27 42589302 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 9.260000 0.95568 2.665000 0.90641 0.460000 0.39030 GCA NOVEL CDC27-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389745.1 17 14.747874 KEEP 3 0 0 49 1697 GG 1 1 0 - 13 60 451 0 0 33.140581 113 60 4011 522 ENST00000531206.1 0.103175 1 NPEPPS 9520 __UNKNOWN__ __UNKNOWN__ 17 45668087 45668087 __UNKNOWN__ Nonsense_Mutation SNP G G A rs376523771 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:45668087G>A ENST00000322157.4 + 10 1337 c.1100G>A c.(1099-1101)tGg>tAg p.W367* NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.W363*|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.W287* NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 367 NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TTTTAGGAATGGTGGACTCAT 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 78 71 73 NA NA NA 17 NA NA 45668087 1824 4076 5900 SO:0001587 stop_gained Y07701 CCDS45721.1 17q12-q21 2008-07-18 ENSG00000141279 ENSG00000141279 9520 3.4.11.2 7900 protein-coding gene gene with protein product puromycin-sensitive aminopeptidase, metalloproteinase MP100 606793 NA 9048733, 10329370 Standard NM_006310 NM_006310 NA Approved PSA, MP100 uc002ilr.4 P55786 OTTHUMG00000165471 ENST00000322157.4:c.1100G>A chr17.hg19:g.45668087G>A ENSP00000320324:p.Trp367* NA B7Z463|Q6P145|Q9NP16|Q9UEM2 hg19 CCDS45721.1 0.02 7.133227 AATxGTG COVERED . . . . . . . . . . G 25.5 4.640414 0.87859 . . ENSG00000141279 ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360 . . . 5.75 5.75 0.90469 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 19.9233 0.97095 0.0:0.0:1.0:0.0 . . . . X 363;367;354;287;50;64 . ENSP00000320324:W367X W + 2 0 NPEPPS 43023086 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.703000 0.98714 2.704000 0.92352 0.591000 0.81541 TGG NOVEL NPEPPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384269.1 0 6.854938 KEEP 65 1 26 32 1096 GG 0.999988 0.999988 0 + 18 27 542 0 0 35.155369 224 60 8148 361 ENST00000322157.4 0.07438 1 NPEPPS 9520 __UNKNOWN__ __UNKNOWN__ 17 45669444 45669444 __UNKNOWN__ Intron SNP A A G rs111230318 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:45669444A>G ENST00000322157.4 + 11 1602 NPEPPS_ENST00000530173.1_Intron|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Intron NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 AAAACTTTAAATATTTCATTC 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 24 21 22 NA NA NA 17 NA NA 45669444 1807 4068 5875 SO:0001627 intron_variant Y07701 CCDS45721.1 17q12-q21 2008-07-18 ENSG00000141279 ENSG00000141279 9520 3.4.11.2 7900 protein-coding gene gene with protein product puromycin-sensitive aminopeptidase, metalloproteinase MP100 606793 NA 9048733, 10329370 Standard NM_006310 NM_006310 NA Approved PSA, MP100 uc002ilr.4 P55786 OTTHUMG00000165471 ENST00000322157.4:c.1365+18A>G chr17.hg19:g.45669444A>G NA B7Z463|Q6P145|Q9NP16|Q9UEM2 hg19 CCDS45721.1 0.02 6.070934 TAAxTAT COVERED NOVEL NPEPPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384269.1 1 12.936249 KEEP 2 0 0 43 1289 AA 1 1 0 + 10 45 319 0 0 20.813542 147 61 5040 239 ENST00000322157.4 0.063694 1 NPEPPS 9520 __UNKNOWN__ __UNKNOWN__ 17 45669458 45669458 __UNKNOWN__ Intron SNP T T C rs11659141 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:45669458T>C ENST00000322157.4 + 11 1602 NPEPPS_ENST00000530173.1_Intron|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Intron NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TTCATTCTTTTATGGTGAAAT 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 18 15 16 NA NA NA 17 NA NA 45669458 1792 4066 5858 SO:0001627 intron_variant Y07701 CCDS45721.1 17q12-q21 2008-07-18 ENSG00000141279 ENSG00000141279 9520 3.4.11.2 7900 protein-coding gene gene with protein product puromycin-sensitive aminopeptidase, metalloproteinase MP100 606793 NA 9048733, 10329370 Standard NM_006310 NM_006310 NA Approved PSA, MP100 uc002ilr.4 P55786 OTTHUMG00000165471 ENST00000322157.4:c.1365+32T>C chr17.hg19:g.45669458T>C NA B7Z463|Q6P145|Q9NP16|Q9UEM2 hg19 CCDS45721.1 0.02 4.50664 TTTxATG COVERED NOVEL NPEPPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384269.1 1 10.229582 KEEP 4 0 0 34 1028 TT 0.999998 0.999997 0 + 5 27 184 0 0 11.757135 116 61 3810 185 ENST00000322157.4 0.041322 0.999999 IGF2BP1 10642 __UNKNOWN__ __UNKNOWN__ 17 47122432 47122432 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:47122432T>C ENST00000290341.3 + 12 1729 IGF2BP1_ENST00000431824.2_Intron NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 NA NA CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610) CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TTCAAGGTTTTGGTCTTTATT 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(198;1041 2123 8248 37119 38268) NA NA 0 142 129 133 NA NA NA 17 NA NA 47122432 2203 4300 6503 SO:0001627 intron_variant AF198254 CCDS11543.1, CCDS54138.1 17q21.32 2013-02-12 ENSG00000159217 ENSG00000159217 10642 RNA binding motif (RRM) containing 28866 protein-coding gene gene with protein product IGF II mRNA binding protein 1 608288 NA 9891060, 11992722 Standard NM_006546 NM_001160423 NA Approved IMP-1 uc002iom.3 Q9NZI8 OTTHUMG00000161173 ENST00000290341.3:c.1395+5T>C chr17.hg19:g.47122432T>C NA C9JT33 hg19 CCDS11543.1 0.02 15.465581 TTTxGGT COVERED NOVEL IGF2BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364046.1 0 13.224902 KEEP 0 0 0 44 1316 TT 1 1 0 + 160 60 5309 0 0 494.605372 221 60 7600 521 ENST00000290341.3 0.419948 1 KAT7 11143 __UNKNOWN__ __UNKNOWN__ 17 47905183 47905183 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:47905183G>A ENST00000259021.4 + 0 2435 KAT7_ENST00000503935.2_3'UTR|KAT7_ENST00000435742.2_3'UTR|KAT7_ENST00000424009.2_3'UTR NM_007067.4 NP_008998.1 O95251 KAT7_HUMAN K(lysine) acetyltransferase 7 NA NA chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA ATGTCCTCTCGCCCCATGAGG 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF074606 CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1 17q21.32 2013-01-10 2011-07-21 2011-07-21 ENSG00000136504 ENSG00000136504 11143 2.3.1.48 Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing 17016 protein-coding gene gene with protein product histone acetyltransferase binding to ORC1 609880 MYST histone acetyltransferase 2 MYST2 NA 10438470, 10930412 Standard NM_007067 NM_001199155 NA Approved HBOA, HBO1, ZC2HC7 uc002ipm.3 O95251 OTTHUMG00000161770 ENST00000259021.4:c.*319G>A chr17.hg19:g.47905183G>A NA B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7 hg19 CCDS11554.1 0.02 20.372377 CTCxCCC COVERED NOVEL KAT7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366032.1 3 18.50176 KEEP 130 4 94 95 3169 GG 1 1 0 + 39 40 1336 0 0 91.96514 485 60 16494 901 ENST00000259021.4 0.074427 1 ABCC3 8714 __UNKNOWN__ __UNKNOWN__ 17 48752600 48752600 __UNKNOWN__ Intron SNP C C T rs4148415 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:48752600C>T ENST00000285238.8 + 20 2679 ABCC3_ENST00000510891.1_Intron NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541) CCTTTCAATCCCCCTCATTTT 0.433 NA NA C||| 1639 0.327276 0.1135 0.4352 5008 , , NA 21098 0.3611 NA 0.3509 False NA ,,, NA NA NA 2504 0.4806 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y17151 CCDS32681.1, CCDS45739.1 17q21 2012-03-14 ENSG00000108846 ENSG00000108846 8714 ATP binding cassette transporters / subfamily C 54 protein-coding gene gene with protein product canalicular multispecific organic anion transporter 2 604323 NA 8894702, 9827529 Standard NM_020038 NM_003786 NA Approved MRP3, cMOAT2, EST90757, MLP2, MOAT-D uc002isl.3 O15438 OTTHUMG00000162245 ENST00000285238.8:c.2600-123C>T chr17.hg19:g.48752600C>T NA B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52 hg19 CCDS32681.1 0.02 -0.324251 ATCxCCC COVERED NOVEL ABCC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368083.2 0 2.407528 KEEP 0 0 0 8 264 CC 0.99257 0.829507 0 + 36 60 1241 0 0 139.226506 1 60 37 49 ENST00000285238.8 0.972973 0.835716 CLTC 1213 __UNKNOWN__ __UNKNOWN__ 17 57759120 57759120 __UNKNOWN__ Missense_Mutation SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:57759120T>G ENST00000269122.3 + 21 3636 c.3362T>G c.(3361-3363)gTg>gGg p.V1121G CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.V1121G NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1121 Heavy chain arm.|Proximal segment. NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572) clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AAAGGAATGGTGAAAGAAGCC 0.433 NA NA T ALK, TFE3 ALCL, renal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q11-qter 1213 clathrin, heavy polypeptide (Hc) L 0 109 100 103 NA NA NA 17 NA NA 57759120 2203 4300 6503 SO:0001583 missense X55878 CCDS32696.1, CCDS74115.1 17q23.1 2013-09-19 2006-09-29 ENSG00000141367 ENSG00000141367 1213 2092 protein-coding gene gene with protein product 118955 clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2 CLTCL2 NA 1765375, 7584026 Standard NM_004859 NM_004859 NA Approved Hc uc002ixq.1 Q00610 OTTHUMG00000134279 ENST00000269122.3:c.3362T>G chr17.hg19:g.57759120T>G ENSP00000269122:p.Val1121Gly NA D3DU00|Q6N0A0|Q86TF2 hg19 CCDS32696.1 0.02 8.728199 TGGxGAA COVERED . . . . . . . . . . T 26.2 4.711857 0.89112 . . ENSG00000141367 ENST00000269122;ENST00000393043 T;T 0.23147 1.92;1.92 5.74 5.74 0.90152 Tetratricopeptide-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.61887 0.2383 M 0.92367 3.3 0.80722 D 1 D;P 0.76494 0.999;0.881 D;D 0.91635 0.999;0.911 T 0.72117 -0.4387 10 0.87932 D 0 . 16.3426 0.83092 0.0:0.0:0.0:1.0 . 1121;1121 Q00610;Q00610-2 CLH1_HUMAN;. G 1121 ENSP00000269122:V1121G;ENSP00000376763:V1121G ENSP00000269122:V1121G V + 2 0 CLTC 55113902 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.997000 0.88414 2.317000 0.78254 0.460000 0.39030 GTG NOVEL CLTC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258859.1 0 12.635042 KEEP 0 0 0 42 1263 TT 1 1 0 + 94 60 3342 0 0 308.843443 148 60 5086 336 ENST00000269122.3 0.38843 1 FTSJ3 117246 __UNKNOWN__ __UNKNOWN__ 17 61904417 61904417 __UNKNOWN__ 5'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:61904417C>T ENST00000427159.2 - 0 614 NM_017647.3 NP_060117.3 FtsJ homolog 3 (E. coli) NA NA breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 ACTACCTAGACCCAGAGCCGC 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF327355 CCDS11644.1 17q23.3 2014-09-11 ENSG00000108592 ENSG00000108592 117246 17136 protein-coding gene gene with protein product SPB1 RNA methyltransferase homolog (S. cerevisiae) NA NA Standard NM_017647 NA Approved SPB1 uc002jca.3 Q8IY81 OTTHUMG00000179012 ENST00000427159.2:c.-32G>A chr17.hg19:g.61904417C>T NA hg19 CCDS11644.1 0.02 -0.368295 AGAxCCA COVERED NOVEL FTSJ3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444386.1 0 3.009214 KEEP 0 0 0 10 326 CC 0.992708 0.892756 0 - 20 60 638 0 0 60.706681 22 60 742 53 ENST00000427159.2 0.47619 0.899314 PLEKHM1P 440456 __UNKNOWN__ __UNKNOWN__ 17 62825410 62825410 __UNKNOWN__ RNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:62825410C>T ENST00000582986.1 - 0 99 NR_024386.1 Q69YJ1 PKHMP_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene NA NA intracellular signal transduction (GO:0035556) metal ion binding (GO:0046872) NA CAGGGAACTTCCCCCCAGCCA 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 17q24.1 2012-10-03 ENSG00000214176 ENSG00000214176 440456 35411 pseudogene pseudogene NA NA Standard NR_024386 NR_024386 NA Approved LOC440456 uc002jew.4 Q69YJ1 OTTHUMG00000179296 ENST00000582986.1: chr17.hg19:g.62825410C>T NA hg19 0.02 1.772856 CTTxCCC COVERED NOVEL PLEKHM1P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000445598.1 0 3.009531 KEEP 0 0 0 10 340 CC 0.992708 0.978962 0 - 14 40 442 0 0 36.861828 45 60 1504 78 ENST00000582986.1 0.237288 0.986153 PRKCA 5578 __UNKNOWN__ __UNKNOWN__ 17 64795056 64795056 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:64795056G>A ENST00000413366.3 + 17 1880 NM_002737.2 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha NA NA activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163) ggtggtggtggtggtggtggt 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11664.1 17q22-q24 2009-07-10 ENSG00000154229 5578 2.7.11.1 9393 protein-coding gene gene with protein product 176960 PKCA NA Standard NM_002737 NA Approved uc002jfp.1 P17252 ENST00000413366.3:c.1855-4935G>A chr17.hg19:g.64795056G>A NA B5BU22|Q15137|Q32M72|Q96RE4 hg19 CCDS11664.1 0.02 -0.226673 GTGxTGG UNCOVERED NOVEL PRKCA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446976.1 7 3.310073 KEEP 26 0 0 11 362 GG 0 0 0 + 3 25 83 0 2 6.380043 13 17 422 88 ENST00000413366.3 0.1875 0.58293 PRKCA 5578 __UNKNOWN__ __UNKNOWN__ 17 64795140 64795140 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:64795140G>A ENST00000413366.3 + 17 1880 NM_002737.2 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha NA NA activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163) ggtggtggtggtggtggtggt 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11664.1 17q22-q24 2009-07-10 ENSG00000154229 5578 2.7.11.1 9393 protein-coding gene gene with protein product 176960 PKCA NA Standard NM_002737 NA Approved uc002jfp.1 P17252 ENST00000413366.3:c.1855-4851G>A chr17.hg19:g.64795140G>A NA B5BU22|Q15137|Q32M72|Q96RE4 hg19 CCDS11664.1 0.02 -0.288447 GTGxTGG UNCOVERED NOVEL PRKCA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446976.1 13 3.009673 KEEP 31 0 0 10 339 GG 0 0 0 + 3 30 85 0 0 6.67356 12 46 397 112 ENST00000413366.3 0.2 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 74559679 74559679 __UNKNOWN__ IGR SNP G G T rs200359199 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:74559679G>T NA NA SNHG16 (1892 upstream) : ST6GALNAC2 (1781 downstream) NA NA NA TGGTGTCTCCGCAGAGTGCCT 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.74559679G>T NA hg19 0.02 19.627276 TCCxCAG COVERED NOVEL 0 5 7.084043 KEEP 3 5 143 74 2328 GG 1 1 0 38 52 1301 0 0 91.607136 414 60 13581 574 0.084071 1 RNF213 57674 __UNKNOWN__ __UNKNOWN__ 17 78307848 78307848 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr17:78307848C>T ENST00000508628.2 + 23 4435 RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron Q63HN8 RN213_HUMAN ring finger protein 213 NA NA ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|membrane (GO:0016020) ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TTGCAGCTCACAGATTCTGGG 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074030 CCDS58606.1 17q25.3 2013-01-09 2007-02-08 2007-02-08 ENSG00000173821 57674 RING-type (C3HC4) zinc fingers 14539 protein-coding gene gene with protein product 613768 chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2 C17orf27, KIAA1618, MYMY2 NA 10997877, 21048783, 21799892 Standard NM_020914 NM_020954 NA Approved KIAA1554, NET57 uc021uen.2 Q63HN8 ENST00000508628.2:c.4291-57C>T chr17.hg19:g.78307848C>T NA C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8 hg19 0.02 1.704346 TCAxAGA COVERED NOVEL RNF213-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000364861.3 1 4.213508 KEEP 0 0 0 14 473 CC 0.995343 0.99434 0 + 32 60 1058 0 0 98.132476 46 60 1650 103 ENST00000508628.2 0.410256 0.998993 RP11-683L23.1 0 __UNKNOWN__ __UNKNOWN__ 18 48137 48137 __UNKNOWN__ Silent SNP C C T rs372907310 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:48137C>T ENST00000573909.1 - 3 1018 c.486G>A c.(484-486)gcG>gcA p.A162A RP11-683L23.1_ENST00000308911.6_Silent_p.A196A|RP11-683L23.1_ENST00000594555.1_5'UTR NA NA NA AGGTCTCATCCGCGTTTTCTA 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA NA ENST00000573909.1:c.486G>A chr18.hg19:g.48137C>T NA hg19 0.02 4.200387 ATCxGCG COVERED NOVEL RP11-683L23.1-002 PUTATIVE not_best_in_genome_evidence|basic protein_coding NA protein_coding OTTHUMT00000439819.1 1 3.609396 KEEP 2 0 0 12 395 CC 0.993634 0.993633 0 - 6 33 229 0 0 15.166315 126 60 4256 184 ENST00000573909.1 0.045455 1 ROCK1P1 727758 __UNKNOWN__ __UNKNOWN__ 18 121992 121992 __UNKNOWN__ RNA SNP C C A rs377384910|rs551504906 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:121992C>A ENST00000608049.1 + 0 2230 NR_033770.1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NA NA NA TTTATTGTTTCTTTTTTTAAC 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 18p11.32 2012-10-04 ENSG00000263006 ENSG00000263006 727758 37832 pseudogene pseudogene NA NA Standard NR_033770 NA Approved uc002kke.3 OTTHUMG00000177913 ENST00000608049.1: chr18.hg19:g.121992C>A NA hg19 0.02 -0.315824 TTTxTTT COVERED NOVEL ROCK1P1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000472417.1 0 5.717934 KEEP 7 0 0 19 632 CC 0.999863 0.818352 0 + 4 21 132 0 0 9.656353 32 60 1144 70 ENST00000608049.1 0.111111 0.818465 NDUFV2 4729 __UNKNOWN__ __UNKNOWN__ 18 9122591 9122591 __UNKNOWN__ Silent SNP T T C rs76552443 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:9122591T>C ENST00000318388.6 + 5 495 c.381T>C c.(379-381)gtT>gtC p.V127V RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000400033.1_Silent_p.V130V NM_021074.4 NP_066552.2 P19404 NDUV2_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 127 NA cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739) 2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) p.V127V(1) breast(1)|lung(4)|ovary(1)|stomach(1) 7 GAAAGCCAGTTGGAAAGTATC 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) lung(1) 121 109 113 NA NA NA 18 NA NA 9122591 2203 4300 6503 SO:0001819 synonymous_variant X84421 CCDS11842.1 18p11.22 2011-07-04 2002-08-29 ENSG00000178127 ENSG00000178127 4729 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7717 protein-coding gene gene with protein product complex I 24kDa subunit, NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial 600532 NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD) NA 9763677, 7607668 Standard NM_021074 NM_021074 NA Approved CI-24k uc002knu.3 P19404 OTTHUMG00000131593 ENST00000318388.6:c.381T>C chr18.hg19:g.9122591T>C NA Q9BV41 hg19 CCDS11842.1 0.02 10.600913 AGTxGGA COVERED NOVEL NDUFV2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254475.2 3 6.273979 KEEP 9 5 160 77 2251 TT 1 1 0 + 11 60 415 0 0 26.661788 266 60 9232 455 ENST00000318388.6 0.039711 1 NDUFV2 4729 __UNKNOWN__ __UNKNOWN__ 18 9122611 9122611 __UNKNOWN__ Missense_Mutation SNP T T C rs72935225 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:9122611T>C ENST00000318388.6 + 5 515 c.401T>C c.(400-402)gTc>gCc p.V134A RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000400033.1_Missense_Mutation_p.V137A NM_021074.4 NP_066552.2 P19404 NDUV2_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 134 NA cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739) 2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) p.V134A(1) breast(1)|lung(4)|ovary(1)|stomach(1) 7 CACATTCAGGTCTGCACTACT 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) lung(1) 122 109 113 NA NA NA 18 NA NA 9122611 2203 4300 6503 SO:0001583 missense X84421 CCDS11842.1 18p11.22 2011-07-04 2002-08-29 ENSG00000178127 ENSG00000178127 4729 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7717 protein-coding gene gene with protein product complex I 24kDa subunit, NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial 600532 NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD) NA 9763677, 7607668 Standard NM_021074 NM_021074 NA Approved CI-24k uc002knu.3 P19404 OTTHUMG00000131593 ENST00000318388.6:c.401T>C chr18.hg19:g.9122611T>C ENSP00000327268:p.Val134Ala NA Q9BV41 hg19 CCDS11842.1 0.02 12.889087 AGGxCTG COVERED . . . . . . . . . . T 20.9 4.067859 0.76301 . . ENSG00000178127 ENST00000318388;ENST00000400033 T;T 0.57273 0.41;0.41 5.93 5.93 0.95920 Thioredoxin-like fold (2); 0.051965 0.85682 D 0.000000 T 0.67335 0.2882 M 0.92169 3.28 0.58432 D 0.999999 B 0.27166 0.17 B 0.33121 0.158 T 0.69752 -0.5060 10 0.51188 T 0.08 -12.7454 16.3783 0.83418 0.0:0.0:0.0:1.0 . 134 P19404 NDUV2_HUMAN A 134;137 ENSP00000327268:V134A;ENSP00000382908:V137A ENSP00000327268:V134A V + 2 0 NDUFV2 9112611 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.846000 0.86887 2.261000 0.74972 0.477000 0.44152 GTC NOVEL NDUFV2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254475.2 3 12.765207 KEEP 8 4 136 90 2695 TT 1 1 0 + 9 60 331 0 0 19.876953 289 60 9638 503 ENST00000318388.6 0.030201 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 10638820 10638820 __UNKNOWN__ IGR SNP A A G rs62093895 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:10638820A>G NA NA RP11-856M7.4 (9977 upstream) : RP11-856M7.1 (23109 downstream) NA NA NA GCCCCAGATCAGGTTGGGCGA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr18.hg19:g.10638820A>G NA hg19 0.02 2.056509 ATCxGGT COVERED NOVEL 0 0 3.296223 KEEP 5 0 0 11 298 AA 0.993072 0.990642 0 10 40 362 0 0 28.376502 62 50 2195 105 0.138889 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15330419 15330419 __UNKNOWN__ IGR SNP A A C rs75058269 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:15330419A>C NA NA AP005901.1 (157 upstream) : None (None downstream) NA NA NA ACACGACTAGAAATCTCAGTC 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr18.hg19:g.15330419A>C NA hg19 0.02 4.23545 TAGxAAT COVERED NOVEL 0 1 2.407305 KEEP 0 0 0 8 252 AA 0.99257 0.99257 0 10 40 361 0 0 25.6717 117 60 4033 167 0.07874 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 18512317 18512317 __UNKNOWN__ IGR SNP A A G rs141474364 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:18512317A>G NA NA None (None upstream) : ROCK1 (14549 downstream) NA NA NA aggcattctcagaaacttctt 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr18.hg19:g.18512317A>G NA hg19 0.02 1.251746 CTCxGAA COVERED NOVEL 0 18 5.40846 KEEP 4 0 0 18 538 AA 0.99986 0.997758 0 3 60 91 0 0 9.553495 1 60 37 122 0.75 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 18526215 18526215 __UNKNOWN__ IGR SNP C C A rs201337909 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:18526215C>A NA NA None (None upstream) : ROCK1 (651 downstream) NA NA NA actaaaaatacaaaaattagc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr18.hg19:g.18526215C>A NA hg19 0.02 -0.043866 ATAxAAA UNCOVERED NOVEL 0 3 2.40769 KEEP 2 0 0 8 271 CC 0 0 0 3 27 107 0 0 10.669734 2 27 75 13 0.6 0.024074 PSMA8 143471 __UNKNOWN__ __UNKNOWN__ 18 23748501 23748501 __UNKNOWN__ Intron SNP C C A rs75067438 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:23748501C>A ENST00000308268.6 + 5 584 PSMA8_ENST00000343848.6_Intron|PSMA8_ENST00000415576.2_Intron NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111) threonine-type endopeptidase activity (GO:0004298) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) CAATGAACTTCTTTCCAAATG 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047355 CCDS32808.1, CCDS45842.1, CCDS45843.1 18q11.2 2006-12-18 ENSG00000154611 143471 Proteasome (prosome, macropain) subunits 22985 protein-coding gene gene with protein product NA NA Standard NM_144662 XM_005258199 NA Approved MGC26605, PSMA7L uc002kvq.3 Q8TAA3 ENST00000308268.6:c.496-10293C>A chr18.hg19:g.23748501C>A NA B0YJ75|Q8IVP4|Q8TA98|Q8TAA2 hg19 CCDS32808.1 0.02 12.982969 CTTxTTT COVERED NOVEL PSMA8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000446255.1 9 5.47005 KEEP 161 5 144 69 2316 CC 1 1 0 + 10 40 352 0 0 20.129231 351 60 12697 637 ENST00000308268.6 0.027701 1 HAUS1 115106 __UNKNOWN__ __UNKNOWN__ 18 43708016 43708016 __UNKNOWN__ Intron SNP C C T rs185499528 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:43708016C>T ENST00000282058.6 + 9 866 HAUS1_ENST00000588704.1_Intron|HAUS1_ENST00000585518.1_Intron NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 NA NA centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 ATGTCCTTATCTATGGTATGT 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(79;183 1423 5813 15597 38427) NA NA 0 82 71 75 NA NA NA 18 NA NA 43708016 2203 4298 6501 SO:0001627 intron_variant AY360137 CCDS11928.1 18q21.1 2013-10-11 2009-04-20 2009-04-20 ENSG00000152240 ENSG00000152240 115106 HAUS augmin-like complex subunits 25174 protein-coding gene gene with protein product 608775 coiled-coil domain containing 5 (spindle associated) CCDC5 NA 19427217 Standard NM_138443 NR_026978 NA Approved HEI-C, HsT1461, FLJ40084 uc002lbu.3 Q96CS2 OTTHUMG00000132638 ENST00000282058.6:c.787-25C>T chr18.hg19:g.43708016C>T NA B2RDM7|Q8N837 hg19 CCDS11928.1 0.02 6.337562 TATxTAT COVERED NOVEL HAUS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255885.1 1 3.009835 KEEP 0 0 0 10 354 CC 0.992708 0.992708 0 + 41 60 1454 0 0 123.710292 133 60 4792 216 ENST00000282058.6 0.235632 1 ST8SIA5 29906 __UNKNOWN__ __UNKNOWN__ 18 44260187 44260187 __UNKNOWN__ Missense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:44260187G>A ENST00000315087.7 - 7 1609 c.949C>T c.(949-951)Cac>Tac p.H317Y ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.H353Y|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.H286Y NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 317 NA carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503) integral component of Golgi membrane (GO:0030173) alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373) kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 CCAAAGAGGTGCACCTCCTCA 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 114 118 117 NA NA NA 18 NA NA 44260187 2203 4300 6503 SO:0001583 missense U91641 CCDS11930.1 18q12.3 2013-03-01 2003-01-14 2005-02-07 ENSG00000101638 ENSG00000101638 29906 Sialyltransferases 17827 protein-coding gene gene with protein product ST8Sia V 607162 sialyltransferase 8E (alpha-2, 8-polysialytransferase) SIAT8E NA 9199191 Standard NM_013305 XM_005258250 NA Approved uc002lcj.1 O15466 OTTHUMG00000132643 ENST00000315087.7:c.949C>T chr18.hg19:g.44260187G>A ENSP00000321343:p.His317Tyr NA B7Z1K9|Q6IAW7 hg19 CCDS11930.1 0.02 16.700167 GGTxCAC COVERED . . . . . . . . . . G 28.1 4.888342 0.91814 . . ENSG00000101638 ENST00000315087;ENST00000538168;ENST00000536490 T;T;T 0.32988 1.43;1.43;1.43 5.51 5.51 0.81932 . 0.000000 0.85682 D 0.000000 T 0.54532 0.1864 M 0.74389 2.26 0.80722 D 1 D;P;D 0.62365 0.982;0.792;0.991 P;P;P 0.60541 0.81;0.643;0.876 T 0.51988 -0.8635 10 0.40728 T 0.16 -6.6104 19.4172 0.94706 0.0:0.0:1.0:0.0 . 286;353;317 F5H8D1;B7Z1K9;O15466 .;.;SIA8E_HUMAN Y 317;353;286 ENSP00000321343:H317Y;ENSP00000445492:H353Y;ENSP00000443683:H286Y ENSP00000321343:H317Y H - 1 0 ST8SIA5 42514185 1.000000 0.71417 1.000000 0.80357 0.972000 0.66771 7.949000 0.87791 2.584000 0.87258 0.561000 0.74099 CAC NOVEL ST8SIA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255892.1 2 13.841756 KEEP 0 0 0 46 1516 GG 1 1 0 - 151 60 4620 0 0 404.387434 328 60 11071 584 ENST00000315087.7 0.31524 1 TCF4 6925 __UNKNOWN__ __UNKNOWN__ 18 53252668 53252668 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:53252668A>C ENST00000566279.1 - 3 240 TCF4_ENST00000564999.1_Intron|TCF4_ENST00000568673.1_Intron|TCF4_ENST00000356073.4_Intron|TCF4_ENST00000540999.1_Intron|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000565018.2_Intron|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000564403.2_Intron|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000354452.3_Intron|TCF4_ENST00000398339.1_Intron|TCF4_ENST00000537578.1_Intron P15884 ITF2_HUMAN transcription factor 4 NA NA DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) ACTGTTACCAAACAGCTTAGA 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M74719 CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1 18q21.1 2013-05-21 ENSG00000196628 ENSG00000196628 6925 Basic helix-loop-helix proteins 11634 protein-coding gene gene with protein product 602272 NA 9302263, 2308860 Standard NM_003199 NM_001083962 NA Approved SEF2-1B, ITF2, bHLHb19, E2-2 uc002lga.3 P15884 OTTHUMG00000132713 ENST00000566279.1:c.73-85T>G chr18.hg19:g.53252668A>C NA B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441 hg19 0.02 4.496374 CCAxACA COVERED NOVEL TCF4-045 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000421677.2 0 14.437038 KEEP 0 0 0 48 1373 AA 1 0.999999 0 - 51 60 1824 0 0 170.468641 72 60 2514 185 ENST00000566279.1 0.414634 0.999999 CDH7 1005 __UNKNOWN__ __UNKNOWN__ 18 63449347 63449347 __UNKNOWN__ Intron SNP T T C rs375347959|rs35372888 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr18:63449347T>C ENST00000397968.2 + 2 636 CDH7_ENST00000536984.2_Intron|CDH7_ENST00000581601.1_Intron|CDH7_ENST00000323011.3_Intron NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 NA NA adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) tccttccttctttctttcttt 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB035301 CCDS11993.1 18q22.1 2010-01-26 ENSG00000081138 ENSG00000081138 1005 Cadherins / Major cadherins 1766 protein-coding gene gene with protein product 605806 NA 9615235 Standard NM_033646 NM_033646 NA Approved uc002ljz.3 Q9ULB5 OTTHUMG00000132800 ENST00000397968.2:c.210+19059T>C chr18.hg19:g.63449347T>C NA Q9H157 hg19 CCDS11993.1 0.02 -0.017546 TTCxTTC UNCOVERED NOVEL CDH7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256217.2 6 2.407346 KEEP 4 0 0 8 251 TT 0 0 0 + 2 60 74 0 0 8.354026 0 0 0 14 ENST00000397968.2 1 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 361833 361833 __UNKNOWN__ IGR SNP C C G rs34488496 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:361833C>G NA NA MIER2 (17040 upstream) : THEG (223 downstream) NA NA NA GGCCCCTCAGCAGGAGCGTCG 0.667 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.361833C>G NA hg19 0.02 -0.394726 CAGxAGG COVERED NOVEL 0 0 3.009545 KEEP 6 0 0 10 332 CC 0.992708 0.927678 0 5 39 170 0 0 12.570371 40 40 1370 67 0.111111 0.934492 CIRBP 1153 __UNKNOWN__ __UNKNOWN__ 19 1274303 1274303 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:1274303C>T ENST00000589235.1 + 7 569 CIRBP_ENST00000589686.1_Intron|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000590188.1_Intron|CIRBP_ENST00000444172.2_3'UTR Q14011 CIRBP_HUMAN cold inducible RNA binding protein NA NA mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634) mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371) endometrium(1)|large_intestine(1)|lung(3) 5 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTTGCTTTGGCAGGTTGAAGG 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D78134 CCDS12059.1, CCDS74244.1, CCDS74245.1 19p13.3 2013-02-12 2001-11-28 ENSG00000099622 ENSG00000099622 1153 RNA binding motif (RRM) containing 1982 protein-coding gene gene with protein product Cold-inducible RNA-binding protein, glycine-rich RNA binding protein 602649 cold inducible RNA-binding protein NA 9434172, 9151692 Standard NM_001280 NM_001280 NA Approved CIRP uc002lrr.4 Q14011 ENST00000589235.1:c.503-3C>T chr19.hg19:g.1274303C>T NA B3KT17|B4E2X2 hg19 0.02 3.531651 TGGxAGG COVERED NOVEL CIRBP-006 PUTATIVE alternative_5_UTR|basic protein_coding NA protein_coding OTTHUMT00000450003.1 1 24.976281 KEEP 0 0 0 83 2813 CC 1 1 0 + 65 60 2096 0 0 198.084375 77 60 2684 292 ENST00000589235.1 0.457746 1 RPS15 6209 __UNKNOWN__ __UNKNOWN__ 19 1440068 1440068 __UNKNOWN__ Missense_Mutation SNP G G C rs201657403 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:1440068G>C ENST00000593052.1 + 3 299 c.161G>C c.(160-162)cGg>cCg p.R54P RPS15_ENST00000589656.2_Missense_Mutation_p.R47P|RPS15_ENST00000591804.2_Missense_Mutation_p.R14P|RPS15_ENST00000586096.2_Missense_Mutation_p.R47P|RPS15_ENST00000591032.1_Missense_Mutation_p.R14P|RPS15_ENST00000585665.1_Missense_Mutation_p.R14P|RPS15_ENST00000233609.4_Missense_Mutation_p.R20P|RPS15_ENST00000586686.2_Missense_Mutation_p.R47P P62841 RS15_HUMAN ribosomal protein S15 47 NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|osteoblast differentiation (GO:0001649)|ribosomal small subunit biogenesis (GO:0042274)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) p.R47P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCTGAACCGGGGCCTGCGG 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(170;79 2680 5719 44260) NA NA 1 Substitution - Missense(1) skin(1) 3 5 4 NA NA NA 19 NA NA 1440068 2019 3993 6012 SO:0001583 missense CCDS12067.1 19p13.3 2012-12-20 ENSG00000115268 ENSG00000115268 6209 S ribosomal proteins 10388 protein-coding gene gene with protein product 40S ribosomal protein S15, homolog of rat insulinoma, insulinoma protein 180535 NA 2159154 Standard NM_001018 NM_001018 NA Approved RIG, MGC111130, S15 uc002lsp.1 P62841 OTTHUMG00000140099 ENST00000593052.1:c.161G>C chr19.hg19:g.1440068G>C ENSP00000466010:p.Arg54Pro NA A5D8V9|P11174|Q3KRA1|Q9UDC2 hg19 0.02 -0.270517 ACCxGGG COVERED . . . . . . . . . . G 11.02 1.516509 0.27123 . . ENSG00000115268 ENST00000233609 . . . 4.26 3.21 0.36854 Ribosomal protein S19, superfamily (2); 0.000000 0.64402 U 0.000002 T 0.79452 0.4448 H 0.96489 3.83 0.80722 D 1 B 0.17465 0.022 B 0.26310 0.068 T 0.78595 -0.2143 9 0.51188 T 0.08 -26.4524 11.4241 0.50001 0.0902:0.0:0.9098:0.0 . 47 P62841 RS15_HUMAN P 47 . ENSP00000233609:R47P R + 2 0 RPS15 1391068 1.000000 0.71417 0.710000 0.30468 0.007000 0.05969 9.198000 0.94994 0.908000 0.36671 -0.192000 0.12808 CGG NOVEL RPS15-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000449613.2 1 3.609976 KEEP 0 0 0 12 385 GG 0.993634 0.712749 0 + 3 39 98 0 0 6.960204 28 60 850 51 ENST00000593052.1 0.096774 0.717315 MBD3 53615 __UNKNOWN__ __UNKNOWN__ 19 1592451 1592451 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:1592451C>A ENST00000434436.3 - 1 240 MBD3_ENST00000156825.1_Intron|UQCR11_ENST00000585937.1_Intron|MBD3_ENST00000592012.1_Intron NM_001281453.1 NP_001268382.1 O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 NA NA ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327) central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) ggggcaggggcgccgaggccg 0.771 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF072247 CCDS12072.1, CCDS62481.1 19p13 2008-07-17 ENSG00000071655 53615 6918 protein-coding gene gene with protein product 603573 NA 9774669, 10441743 Standard NM_003926 NM_001281454 NA Approved uc002ltl.1 O95983 ENST00000434436.3:c.110+69G>T chr19.hg19:g.1592451C>A NA A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4 hg19 CCDS12072.1 0.02 1.074075 GGGxGCC COVERED NOVEL MBD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449658.2 0 6.583644 KEEP 0 9 97 60 1300 CC 1 1 0 - 13 60 191 0 0 8.151513 112 60 2548 220 ENST00000434436.3 0.104 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 2506087 2506087 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:2506087C>A NA NA RNU6-993P (2948 upstream) : GNG7 (5129 downstream) NA NA NA agaaaagaaacaaaaagtatg 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.2506087C>A NA hg19 0.02 -0.424953 AAAxAAA COVERED NOVEL 0 7 4.506332 KEEP 0 1 24 24 715 CC 0.999931 0.954425 0 7 60 149 0 0 9.631681 42 60 1318 85 0.142857 0.954491 TLE6 79816 __UNKNOWN__ __UNKNOWN__ 19 2993943 2993943 __UNKNOWN__ Intron SNP T T G rs374384963|rs370964417 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:2993943T>G ENST00000246112.4 + 16 1738 TLE6_ENST00000452088.1_Intron NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 NA NA regulation of transcription, DNA-templated (GO:0006355) cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) aaaaaaaaGGTGGGTGGGGAG 0.493 NA NA T||| 4082 0.815096 0.6483 0.8804 5008 , , NA 12428 0.9742 NA 0.8459 False NA ,,, NA NA NA 2504 0.7986 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024071 CCDS12100.1, CCDS45910.1 19p13.3 2014-03-07 2014-03-07 ENSG00000104953 ENSG00000104953 79816 WD repeat domain containing 30788 protein-coding gene gene with protein product 612399 transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) NA 11486032 Standard NM_024760 NM_024760 NA Approved FLJ14009, GRG6 uc002lwt.2 Q9H808 OTTHUMG00000156793 ENST00000246112.4:c.1538-74T>G chr19.hg19:g.2993943T>G NA J3KMZ1 hg19 CCDS45910.1 0.02 -0.26271 AGGxGGG COVERED NOVEL TLE6-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000345996.3 6 2.381886 KEEP 0 1 8 11 343 TT 0.993634 0.689252 0 + 5 60 109 0 0 7.511131 24 60 694 56 ENST00000246112.4 0.172414 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 3332449 3332449 __UNKNOWN__ IGR SNP C C T rs142185408|rs369746057 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:3332449C>T NA NA AC010649.1 (29448 upstream) : NFIC (27111 downstream) NA NA NA ccttccctccctccttccttc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.3332449C>T NA hg19 0.02 -0.105268 TCCxTCC UNCOVERED NOVEL 0 13 4.506799 KEEP 7 0 0 15 489 CC 0.99254 0.138789 0 3 40 101 0 2 8.732297 8 40 273 37 0.272727 0.139832 UHRF1 29128 __UNKNOWN__ __UNKNOWN__ 19 4909395 4909395 __UNKNOWN__ RNA SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:4909395A>C ENST00000592666.1 + 0 566 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 NA NA cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351) euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657) core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GGCGCCCCCCACCCTCTTTCT 0.751 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF129507 CCDS74262.1, CCDS74263.1 19p13.3 2012-04-20 2008-08-14 ENSG00000034063 ENSG00000276043 29128 RING-type (C3HC4) zinc fingers 12556 protein-coding gene gene with protein product 607990 NA 10646863 Standard NM_001048201 NM_001048201 NA Approved ICBP90, Np95, FLJ21925, RNF106 uc002mbo.3 Q96T88 ENST00000592666.1: chr19.hg19:g.4909395A>C NA A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7 hg19 0.02 1.438543 CCCxCCC COVERED NOVEL UHRF1-006 KNOWN sequence_error|basic processed_transcript NA processed_transcript OTTHUMT00000450444.1 0 2.206411 KEEP 0 4 38 22 495 AA 0.999957 0.998652 0 + 13 60 190 0 0 10.563698 63 60 1580 162 ENST00000592666.1 0.171053 0.998696 CLPP 8192 __UNKNOWN__ __UNKNOWN__ 19 6361501 6361501 __UNKNOWN__ 5'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:6361501C>A ENST00000245816.4 + 0 39 CTB-180A7.3_ENST00000595644.1_RNA NM_006012.2 NP_006003.1 Q16740 CLPP_HUMAN caseinolytic mitochondrial matrix peptidase proteolytic subunit NA NA protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603) endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) endometrium(2)|large_intestine(2)|ovary(2) 6 AAGTGAGCGGCCTAGCGAGCG 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant Z50853 CCDS12162.1 19p13.3 2013-09-12 2013-09-12 ENSG00000125656 ENSG00000125656 8192 ATPases / AAA-type 2084 protein-coding gene gene with protein product ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human 601119 ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog, ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli), ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) NA 8543061, 23360988 Standard NM_006012 NM_006012 NA Approved uc002mem.1 Q16740 OTTHUMG00000180779 ENST00000245816.4:c.-85C>A chr19.hg19:g.6361501C>A NA B2R4W5 hg19 CCDS12162.1 0.02 -0.287553 CGGxCTA COVERED NOVEL CLPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452984.1 0 3.259836 KEEP 0 1 25 20 520 CC 0.999879 0.780965 0 + 5 60 107 0 0 7.0468 28 60 794 61 ENST00000245816.4 0.151515 0.78106 SLC25A23 79085 __UNKNOWN__ __UNKNOWN__ 19 6459666 6459666 __UNKNOWN__ 5'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:6459666C>A ENST00000301454.4 - 0 80 SLC25A23_ENST00000334510.5_5'UTR NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 NA NA adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) calcium ion binding (GO:0005509) endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 ggaggggaggcccggcagcgg 0.806 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 2 3 3 NA NA NA 19 NA NA 6459666 1130 2462 3592 SO:0001623 5_prime_UTR_variant AJ619962 CCDS32882.1 19p13.1 2014-02-06 ENSG00000125648 ENSG00000125648 79085 Solute carriers, EF-hand domain containing 19375 protein-coding gene gene with protein product 608746 NA 15123600 Standard NM_024103 NM_024103 NA Approved FLJ30339, MGC2615, APC2 uc002mex.1 Q9BV35 OTTHUMG00000180852 ENST00000301454.4:c.-27G>T chr19.hg19:g.6459666C>A NA B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4 hg19 CCDS32882.1 0.02 1.448664 AGGxCCG COVERED NOVEL SLC25A23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453325.1 1 10.523864 KEEP 0 0 0 35 1151 CC 0.999999 0.999938 0 - 41 60 1245 0 0 115.523092 55 60 1790 138 ENST00000301454.4 0.427083 0.99994 CERS4 79603 __UNKNOWN__ __UNKNOWN__ 19 8326999 8326999 __UNKNOWN__ 3'UTR SNP C C T rs1044547 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:8326999C>T ENST00000559336.1 + 0 1209 CERS4_ENST00000559450.1_3'UTR|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000251363.5_3'UTR|CERS4_ENST00000558331.1_3'UTR Q9HA82 CERS4_HUMAN ceramide synthase 4 NA NA ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) NA CATAGCCGGGCGGGGCTGGCT 0.697 NA NA C||| 733 0.146366 0.1982 0.1787 5008 , , NA 9842 0.0873 NA 0.162 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA NA 0 C 537,3211 31,475,1368 3 4 4 NA -6.9 0 19 dbSNP_86 4 981,6623 58,865,2879 no utr-3 CERS4 NM_024552.2 89,1340,4247 TT,TC,CC NA 12.9011,14.3276,13.3721 8326999 1518,9834 1874 3802 5676 SO:0001624 3_prime_UTR_variant CCDS12197.1 19p13.2 2014-09-11 2011-07-08 2011-07-08 ENSG00000090661 ENSG00000090661 79603 Homeoboxes / CERS class 23747 protein-coding gene gene with protein product 615334 LAG1 longevity assurance homolog 4 (S. cerevisiae), LAG1 homolog, ceramide synthase 4 LASS4 NA Standard NM_024552 NM_024552 NA Approved FLJ12089, Trh1 uc002mjg.3 Q9HA82 OTTHUMG00000172570 ENST00000559336.1:c.*6C>T chr19.hg19:g.8326999C>T NA D6W665 hg19 0.02 -0.376674 GGGxGGG COVERED NOVEL CERS4-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000419202.1 0 3.844062 KEEP 0 0 0 13 348 CC 0.995343 0.913895 0 + 8 60 264 0 0 21.252417 35 60 1013 79 ENST00000559336.1 0.186047 0.918171 MUC16 94025 __UNKNOWN__ __UNKNOWN__ 19 9006392 9006392 __UNKNOWN__ Missense_Mutation SNP C C T rs201544283 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:9006392C>T ENST00000397910.4 - 45 39829 c.39626G>A c.(39625-39627)aGc>aAc p.S13209N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13211 SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}. NA cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AACACTGGTGCTCTTGAACAA 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 102 85 91 NA NA NA 19 NA NA 9006392 2027 4192 6219 SO:0001583 missense AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025 Mucins 15582 protein-coding gene gene with protein product 606154 NA 11369781 Standard NM_024690 XM_006722941 NA Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.39626G>A chr19.hg19:g.9006392C>T ENSP00000381008:p.Ser13209Asn NA Q6ZQW5|Q96RK2 hg19 CCDS54212.1 0.02 7.284871 GTGxTCT COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. 0.006|0.006 -2.043467|-2.043467 0.00398|0.00398 .|. .|. ENSG00000181143|ENSG00000181143 ENST00000542240|ENST00000397910;ENST00000441155 .|T .|0.29397 .|1.57 2.85|2.85 -3.69|-3.69 0.04450|0.04450 .|SEA (1); .|. .|. .|. .|. T|T 0.44371|0.44371 0.1290|0.1290 .|. .|. .|. .|. .|. .|. .|B;P .|0.39044 .|0.0;0.656 .|B;P .|0.54759 .|0.001;0.76 T|T 0.56763|0.56763 -0.7925|-0.7925 3|7 .|0.87932 .|D .|0 -2.947|-2.947 10.1049|10.1049 0.42528|0.42528 0.0:0.5653:0.0:0.4347|0.0:0.5653:0.0:0.4347 .|. .|20854;13209 .|Q8WXI7;B5ME49 .|MUC16_HUMAN;. T|N 49|13209;340 .|ENSP00000381008:S13209N .|ENSP00000381008:S13209N A|S -|- 1|2 0|0 MUC16|MUC16 8867392|8867392 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.000000|0.000000 0.00434|0.00434 -0.863000|-0.863000 0.04259|0.04259 -1.669000|-1.669000 0.01470|0.01470 -2.594000|-2.594000 0.00164|0.00164 GCA|AGC NOVEL MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402806.1 23 7.925931 KEEP 4 1 30 37 1278 CC 1 1 0 - 11 40 380 0 0 25.82505 150 60 5460 339 ENST00000397910.4 0.068323 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 10149131 10149131 __UNKNOWN__ IGR SNP G G T rs17210660 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:10149131G>T NA NA MIR5589 (42 upstream) : C3P1 (3385 downstream) NA NA NA CTCCTCCCAGGATCTGTCCCA 0.557 NA NA G||| 1233 0.246206 0.1626 0.2277 5008 , , NA 17801 0.2133 NA 0.3847 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.10149131G>T NA hg19 0.02 1.835899 CAGxATC COVERED NOVEL 0 1 2.70798 KEEP 0 0 0 9 289 GG 0.99254 0.984693 0 4 60 141 0 0 9.540775 59 60 2116 86 0.063492 0.992094 ZNF44 51710 __UNKNOWN__ __UNKNOWN__ 19 12382803 12382803 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:12382803G>A ENST00000356109.5 - 0 2529 NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CTATTTGAAAGAAATGGAAAC 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X52338 CCDS45988.1, CCDS54223.1 19p13.2 2013-01-08 2006-05-11 ENSG00000197857 ENSG00000197857 51710 Zinc fingers, C2H2-type, - 13110 protein-coding gene gene with protein product 194542 zinc finger protein 58, zinc finger protein 44 (KOX 7), zinc finger protein 55 ZNF58, ZNF55 NA 1946370, 1505991 Standard NM_016264 NM_016264 NA Approved KOX7, ZNF504 uc010xmj.2 P15621 OTTHUMG00000156424 ENST00000356109.5:c.*419C>T chr19.hg19:g.12382803G>A NA B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7 hg19 CCDS54223.1 0.02 2.360083 AAAxAAA COVERED NOVEL ZNF44-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000344132.1 7 4.378885 KEEP 0 1 9 18 614 GG 0.99986 0.99986 0 - 15 60 297 0 0 16.701162 124 60 3709 202 ENST00000356109.5 0.107914 1 ZNF564 163050 __UNKNOWN__ __UNKNOWN__ 19 12639164 12639164 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:12639164C>G ENST00000339282.7 - 3 341 c.145G>C c.(145-147)Gac>Cac p.D49H CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 49 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 ATGCTCTGGTCTTCCCATTTT 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 78 75 76 NA NA NA 19 NA NA 12639164 1827 4072 5899 SO:0001583 missense BC028367 CCDS42505.1 19p13.2 2013-09-19 ENSG00000249709 ENSG00000249709 163050 Zinc fingers, C2H2-type, - 31106 protein-coding gene gene with protein product NA NA Standard NM_144976 NM_144976 NA Approved MGC26914 Q8TBZ8 OTTHUMG00000156418 ENST00000339282.7:c.145G>C chr19.hg19:g.12639164C>G ENSP00000340004:p.Asp49His NA B9EGT4|Q6P1K6 hg19 CCDS42505.1 0.02 6.97128 GGTxTTC COVERED . . . . . . . . . . C 12.23 1.876797 0.33162 . . ENSG00000249709 ENST00000339282 T 0.00816 5.66 1.85 0.734 0.18294 Krueppel-associated box (3); . . . . T 0.01387 0.0045 M 0.76002 2.32 0.22292 N 0.999221 B 0.33477 0.413 B 0.34418 0.182 T 0.43556 -0.9384 9 0.20519 T 0.43 . 4.5432 0.12067 0.0:0.7902:0.0:0.2098 . 49 Q8TBZ8 ZN564_HUMAN H 49 ENSP00000340004:D49H ENSP00000340004:D49H D - 1 0 ZNF564 12500164 0.080000 0.21391 0.033000 0.17914 0.836000 0.47400 0.722000 0.25925 0.128000 0.18479 0.448000 0.29417 GAC NOVEL ZNF564-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344120.2 3 6.621202 KEEP 0 0 0 22 754 CC 0.999879 0.999879 0 - 37 60 1327 0 0 111.676477 133 60 4906 236 ENST00000339282.7 0.217647 1 HOOK2 29911 __UNKNOWN__ __UNKNOWN__ 19 12876916 12876916 __UNKNOWN__ Splice_Site SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:12876916C>T ENST00000264827.5 - 15 1682 c.e15+1 HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Splice_Site NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 NA NA early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031) centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874) identical protein binding (GO:0042802) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CAGGCGCTCACCGGTGCTGCG 0.716 NA NA OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 27 25 NA NA NA 19 NA NA 12876916 2012 4170 6182 SO:0001630 splice_region_variant AF044924 CCDS42507.1, CCDS42508.1 19p13.2 2013-08-21 2013-08-21 29911 19885 protein-coding gene gene with protein product 607824 hook homolog 2 (Drosophila) NA 9927460 Standard NM_013312 NM_013312 NA Approved HK2 uc002muy.2 Q96ED9 ENST00000264827.5:c.1511+1G>A chr19.hg19:g.12876916C>T 683 O60562 hg19 CCDS42507.1 0.02 10.03277 TCAxCGG COVERED . . . . . . . . . . C 28.6 4.933813 0.92458 . . ENSG00000095066 ENST00000397668;ENST00000264827 . . . 5.04 5.04 0.67666 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 17.1504 0.86776 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . HOOK2 12737916 1.000000 0.71417 1.000000 0.80357 0.952000 0.60782 6.234000 0.72326 2.316000 0.78162 0.467000 0.42956 . NOVEL HOOK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451009.1 0 13.80909 KEEP 0 0 0 46 1527 CC 1 1 0 Intron - 67 60 2252 0 0 193.91632 184 60 6383 371 ENST00000264827.5 0.266932 1 ZSWIM4 65249 __UNKNOWN__ __UNKNOWN__ 19 13936534 13936534 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:13936534G>T ENST00000254323.2 + 11 2217 ZSWIM4_ENST00000440752.2_Intron NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 NA NA zinc ion binding (GO:0008270) central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GCAGGTGAGGGCTGCCAGGTG 0.697 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022283 CCDS32924.1 19p13.13 2012-02-23 ENSG00000132003 ENSG00000132003 65249 Zinc fingers, SWIM-type 25704 protein-coding gene gene with protein product NA NA Standard XM_031342 NM_023072 NA Approved FLJ12221 uc002mxh.1 Q9H7M6 ENST00000254323.2:c.2028+7G>T chr19.hg19:g.13936534G>T NA hg19 CCDS32924.1 0.02 2.491486 AGGxCTG COVERED NOVEL ZSWIM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457457.1 4 5.397247 KEEP 0 2 18 25 712 GG 0.999988 0.999988 0 + 15 60 239 0 0 10.037991 152 60 3665 219 ENST00000254323.2 0.08982 1 CC2D1A 54862 __UNKNOWN__ __UNKNOWN__ 19 14023284 14023284 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:14023284C>A ENST00000318003.7 + 3 553 CC2D1A_ENST00000589606.1_Intron NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGGCTCTGATCCGGTTGCCCC 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 63 60 NA NA NA 19 NA NA 14023284 2101 4206 6307 SO:0001627 intron_variant AF536205 CCDS42512.1 19p13.12 2007-01-08 ENSG00000132024 54862 30237 protein-coding gene gene with protein product mental retardation, nonsyndromic, autosomal recessive, 3 610055 NA 12761501, 16033914 Standard NM_017721 NM_017721 NA Approved FLJ20241, MRT3 uc002mxo.2 Q6P1N0 ENST00000318003.7:c.312+33C>A chr19.hg19:g.14023284C>A NA Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1 hg19 CCDS42512.1 0.02 10.699932 GATxCGG COVERED NOVEL CC2D1A-001 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000457954.1 1 11.436124 KEEP 0 0 0 38 1277 CC 1 1 0 + 11 60 346 0 0 19.252074 301 60 10462 420 ENST00000318003.7 0.035256 1 CD97 976 __UNKNOWN__ __UNKNOWN__ 19 14507373 14507373 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:14507373G>A ENST00000242786.5 + 5 558 CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Intron NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218) extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 AGGAGGAGGGGGAAGATCCGC 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32929.1, CCDS32930.1, CCDS32931.1 19p13 2014-08-08 2006-03-28 ENSG00000123146 976 CD molecules, -, GPCR / Class B : Orphans 1711 protein-coding gene gene with protein product leukocyte antigen CD97, seven-span transmembrane protein, seven-transmembrane, heterodimeric receptor associated with inflammation, seven transmembrane helix receptor 601211 CD97 antigen NA 7636245, 8786105 Standard NM_078481 NM_078481 NA Approved TM7LN1 uc002myl.3 P48960 ENST00000242786.5:c.478+88G>A chr19.hg19:g.14507373G>A NA A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7 hg19 CCDS32929.1 0.02 11.092565 GGGxGAA COVERED NOVEL CD97-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459821.2 1 12.372688 KEEP 5 1 19 48 1582 GG 1 1 0 + 26 40 951 1 0 72.865899 193 60 6599 364 ENST00000242786.5 0.118721 1 CD97 976 __UNKNOWN__ __UNKNOWN__ 19 14507447 14507447 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:14507447C>T ENST00000242786.5 + 5 558 CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Intron NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218) extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CAGGAAGGTCCTGCCACACGG 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32929.1, CCDS32930.1, CCDS32931.1 19p13 2014-08-08 2006-03-28 ENSG00000123146 976 CD molecules, -, GPCR / Class B : Orphans 1711 protein-coding gene gene with protein product leukocyte antigen CD97, seven-span transmembrane protein, seven-transmembrane, heterodimeric receptor associated with inflammation, seven transmembrane helix receptor 601211 CD97 antigen NA 7636245, 8786105 Standard NM_078481 NM_078481 NA Approved TM7LN1 uc002myl.3 P48960 ENST00000242786.5:c.478+162C>T chr19.hg19:g.14507447C>T NA A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7 hg19 CCDS32929.1 0.02 3.7686 GTCxTGC COVERED NOVEL CD97-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459821.2 1 2.407739 KEEP 0 0 0 8 278 CC 0.99257 0.992567 0 + 26 40 833 0 0 70.563316 76 60 2738 130 ENST00000242786.5 0.254902 0.999997 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15763590 15763590 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:15763590C>A ENST00000221307.8 + 9 1032 CYP4F3_ENST00000586182.2_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000585846.1_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CCCTCGGGTGCTGAAGCAGCC 0.627 NA NA OREG0007255 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 47 46 47 NA NA NA 19 NA NA 15763590 2203 4300 6503 SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.986-43C>A chr19.hg19:g.15763590C>A 705 B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 10.117837 GTGxTGA COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 0 7.824998 KEEP 0 0 0 26 894 CC 0.999957 0.999957 0 + 61 60 2030 0 0 170.037724 204 60 7326 338 ENST00000221307.8 0.230189 1 ANKLE1 126549 __UNKNOWN__ __UNKNOWN__ 19 17397477 17397477 __UNKNOWN__ 3'UTR SNP G G T rs13345098|rs68096250 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:17397477G>T ENST00000394458.3 + 0 2240 ANKLE1_ENST00000598347.1_Missense_Mutation_p.V583L|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000404085.1_3'UTR NM_152363.4 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 NA NA large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 gtgtgtgtgtgtgtgtgtgtg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096688 CCDS12354.2, CCDS12354.3 19p13.11 2013-01-10 2008-03-25 2008-03-25 ENSG00000160117 ENSG00000160117 126549 Ankyrin repeat domain containing 26812 protein-coding gene gene with protein product LEM domain containing 6 NA ankyrin repeat domain 41 ANKRD41 NA Standard NM_152363 NM_152363 NA Approved FLJ39369, LEMD6 uc002nga.2 Q8NAG6 OTTHUMG00000150839 ENST00000394458.3:c.*116G>T chr19.hg19:g.17397477G>T NA A8VU82|Q8N8J8 hg19 CCDS12354.2 0.02 5.602818 TGTxTGT COVERED . . . . . . . . . . g 9.407 1.079478 0.20227 . . ENSG00000160117 ENST00000438921 . . . 2.28 2.28 0.28536 . . . . . T 0.25975 0.0633 . . . 0.80722 D 1 P 0.42584 0.784 B 0.28784 0.094 T 0.05289 -1.0894 6 . . . . 8.5653 0.33536 0.0:0.0:1.0:0.0 rs13345098 583 E7ETZ9 . L 583 . . V + 1 0 ANKLE1 17258477 0.307000 0.24500 0.369000 0.25952 0.120000 0.20174 1.568000 0.36418 1.208000 0.43306 0.472000 0.43445 GTG NOVEL ANKLE1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000325392.2 7 8.154134 KEEP 1 1 31 38 1254 GG 1 1 0 + 10 63 299 0 0 18.877948 138 70 4607 237 ENST00000394458.3 0.067568 1 ANO8 57719 __UNKNOWN__ __UNKNOWN__ 19 17439067 17439067 __UNKNOWN__ Missense_Mutation SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:17439067T>A ENST00000159087.4 - 13 2288 c.2130A>T c.(2128-2130)agA>agT p.R710S NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 710 NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229) autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 GGTTCTGCCGTCTCTGCCTAC 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 19 21 20 NA NA NA 19 NA NA 17439067 2199 4299 6498 SO:0001583 missense AB046843 CCDS32949.1 19p13.12 2014-04-09 2008-08-28 2008-08-28 ENSG00000074855 57719 Ion channels / Chloride channels : Calcium activated : Anoctamins 29329 protein-coding gene gene with protein product 610216 KIAA1623, transmembrane protein 16H KIAA1623, TMEM16H NA 10997877, 24692353 Standard XM_050644 NM_020959 NA Approved uc002ngf.2 Q9HCE9 ENST00000159087.4:c.2130A>T chr19.hg19:g.17439067T>A ENSP00000159087:p.Arg710Ser NA A6NIJ0 hg19 CCDS32949.1 0.02 28.272823 CCGxCTC COVERED . . . . . . . . . . T 13.15 2.149957 0.37923 . . ENSG00000074855 ENST00000159087 T 0.62639 0.01 4.95 -0.0664 0.13764 . 0.383887 0.25810 N 0.028144 T 0.37945 0.1022 N 0.12746 0.255 0.09310 N 1 B 0.23442 0.085 B 0.25614 0.062 T 0.22977 -1.0201 10 0.23891 T 0.37 . 9.4258 0.38578 0.0:0.6818:0.0:0.3182 . 710 Q9HCE9 ANO8_HUMAN S 710 ENSP00000159087:R710S ENSP00000159087:R710S R - 3 2 ANO8 17300067 0.014000 0.17966 0.745000 0.31077 0.380000 0.30137 0.036000 0.13819 0.129000 0.18514 -0.589000 0.04120 AGA NOVEL ANO8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462943.1 0 34.527339 KEEP 0 0 0 115 3376 TT 1 1 0 - 163 60 5258 0 0 437.017237 552 60 18057 1111 ENST00000159087.4 0.227972 1 B3GNT3 10331 __UNKNOWN__ __UNKNOWN__ 19 17907052 17907052 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:17907052A>C ENST00000318683.6 + 1 97 B3GNT3_ENST00000595387.1_Intron NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887) beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 ggtgcacaccacaggcagcta 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB015630 CCDS12364.1 19p13.1 2013-02-19 ENSG00000179913 10331 Beta 3-glycosyltransferases 13528 protein-coding gene gene with protein product putative type II membrane protein, beta-1,3-N-acetylglucosaminyltransferase bGnT-3, transmembrane protein 3 605863 TMEM3 NA 10072769, 11042166 Standard NM_014256 NM_014256 NA Approved B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3 uc002nhl.1 Q9Y2A9 ENST00000318683.6:c.-51+1037A>C chr19.hg19:g.17907052A>C NA B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2 hg19 CCDS12364.1 0.02 -0.157904 ACCxCAG COVERED NOVEL B3GNT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466877.1 0 2.4071 KEEP 0 0 0 8 246 AA 0.99257 0.320408 0 + 4 60 134 0 0 11.168051 14 60 469 31 ENST00000318683.6 0.222222 0.322807 JAK3 3718 __UNKNOWN__ __UNKNOWN__ 19 17952639 17952639 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:17952639A>C ENST00000527670.1 - 6 891 JAK3_ENST00000458235.1_Intron|JAK3_ENST00000526008.1_Intron|JAK3_ENST00000534444.1_Intron P52333 JAK3_HUMAN Janus kinase 3 NA NA B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 Tofacitinib(DB08895) CCATGAACCCACCCCCAAGCC 0.617 NA 2 Mis acute megakaryocytic leukemia, ETP ALL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 19 19p13.1 3718 Janus kinase 3 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U31601 CCDS12366.1 19p13-p12 2014-09-17 2009-04-23 ENSG00000105639 ENSG00000105639 3718 2.7.10.1 6193 protein-coding gene gene with protein product tyrosine-protein kinase JAK3, leukocyte Janus kinase 600173 NA 8921370, 9226382 Standard NM_000215 NM_000215 NA Approved L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3 uc002nhn.4 P52333 OTTHUMG00000165648 ENST00000527670.1:c.862-68T>G chr19.hg19:g.17952639A>C NA Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2 hg19 CCDS12366.1 0.02 0.711595 CCCxCCC COVERED NOVEL JAK3-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385549.1 1 3.293945 KEEP 0 0 0 11 250 AA 0.993072 0.992395 0 - 13 60 168 0 0 8.293096 65 60 1713 125 ENST00000527670.1 0.166667 0.999317 RPL18A 6142 __UNKNOWN__ __UNKNOWN__ 19 17970882 17970882 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:17970882C>T ENST00000222247.5 + 1 99 RPL18A_ENST00000600147.1_Intron|RPL18A_ENST00000599898.1_Intron NM_000980.3 NP_000971.1 Q02543 RL18A_HUMAN ribosomal protein L18a NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CCGCGCGCTTCTGTTTGGGCC 0.726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007175 CCDS12367.1 19p13.11 2011-04-06 ENSG00000105640 ENSG00000105640 6142 L ribosomal proteins 10311 protein-coding gene gene with protein product 60S ribosomal protein L18a, ribosomal protein L18a-like protein 604178 NA 9582194 Standard NM_000980 NM_000980 NA Approved L18A uc002nhp.3 Q02543 ENST00000222247.5:c.18+99C>T chr19.hg19:g.17970882C>T NA hg19 CCDS12367.1 0.02 8.419311 CTTxTGT COVERED NOVEL RPL18A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466679.1 0 20.222189 KEEP 0 1 10 71 2434 CC 1 1 0 + 48 60 1655 0 0 139.61635 160 60 5715 364 ENST00000222247.5 0.230769 1 ZNF626 199777 __UNKNOWN__ __UNKNOWN__ 19 20807292 20807292 __UNKNOWN__ Missense_Mutation SNP C C T rs4809072 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:20807292C>T ENST00000601440.1 - 4 1537 c.1391G>A c.(1390-1392)tGc>tAc p.C464Y CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 464 NA C -> Y (in dbSNP:rs4809072). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTTAGAGGAGCACTTAAAAGC 0.403 NA NA t||| 2238 0.446885 0.2474 0.572 5008 , , NA 8358 0.502 NA 0.6054 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA NA 0 40 19 26 NA NA NA 19 NA NA 20807292 1770 3036 4806 SO:0001583 missense BC007116 CCDS32976.1, CCDS42535.1 19p13.11 2013-01-08 ENSG00000188171 199777 Zinc fingers, C2H2-type, - 30461 protein-coding gene gene with protein product NA NA 12477932 Standard NM_145297 NM_145297 NA Approved uc002npb.1 Q68DY1 ENST00000601440.1:c.1391G>A chr19.hg19:g.20807292C>T ENSP00000469958:p.Cys464Tyr NA Q8N8T4|Q96QM1 hg19 CCDS42535.1 0.02 1.57983 GAGxACT COVERED . . . . . . . . . . N 0.001 -3.427365 0.00013 . . ENSG00000188171 ENST00000392298;ENST00000453075 . . . 0.832 -1.66 0.08265 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.11153 0.0272 N 0.01656 -0.775 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.34204 -0.9838 7 0.17369 T 0.5 . 6.4371 0.21829 0.0:0.7464:0.0:0.2536 rs4809072 464 Q68DY1 ZN626_HUMAN Y 464;388 . ENSP00000376118:C464Y C - 2 0 ZNF626 20599132 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -4.969000 0.00165 -1.204000 0.02648 -1.197000 0.01672 TGC NOVEL ZNF626-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447845.2 0 3.310855 KEEP 1 0 0 11 391 CC 0.993072 0.992395 0 - 6 40 192 0 0 12.855106 73 60 2553 111 ENST00000601440.1 0.075949 0.999317 ZNF208 7757 __UNKNOWN__ __UNKNOWN__ 19 22155834 22155834 __UNKNOWN__ Missense_Mutation SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:22155834T>C ENST00000397126.4 - 4 2150 c.2002A>G c.(2002-2004)Aaa>Gaa p.K668E ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 O43345 ZN208_HUMAN zinc finger protein 208 668 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CCACATTCTTTACATTTGTAG 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 50 54 53 NA NA NA 19 NA NA 22155834 2033 4212 6245 SO:0001583 missense BC038199 CCDS54240.1 19p12 2013-01-08 ENSG00000160321 7757 Zinc fingers, C2H2-type, - 12999 protein-coding gene gene with protein product zinc finger protein 95 603977 NA 9724325 Standard NM_007153 NM_007153 NA Approved PMIDP, ZNF95 uc021urr.1 O43345 ENST00000397126.4:c.2002A>G chr19.hg19:g.22155834T>C ENSP00000380315:p.Lys668Glu NA hg19 CCDS54240.1 0.02 6.33163 CTTxACA COVERED . . . . . . . . . . T 0.025 -1.384285 0.01194 . . ENSG00000160321 ENST00000397126;ENST00000428290 T 0.07567 3.18 2.43 -4.86 0.03132 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.02571 0.0078 . . . 0.09310 N 1 B 0.22983 0.078 B 0.20577 0.03 T 0.34030 -0.9845 8 0.02654 T 1 . 5.6708 0.17721 0.0:0.3754:0.2647:0.36 . 568 O43345 ZN208_HUMAN E 668;568 ENSP00000380315:K668E ENSP00000380315:K668E K - 1 0 ZNF208 21947674 0.000000 0.05858 0.000000 0.03702 0.060000 0.15804 -7.965000 0.00027 -2.853000 0.00330 -1.802000 0.00618 AAA NOVEL ZNF208-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464302.1 4 4.813857 KEEP 4 0 0 16 484 TT 0.99649 0.99649 0 - 6 40 212 0 0 13.096033 146 60 4893 191 ENST00000397126.4 0.039474 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 23688685 23688685 __UNKNOWN__ IGR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:23688685T>A NA NA CTB-175P5.4 (97792 upstream) : ZNF675 (19747 downstream) NA NA NA TGTAGTTCTCTAACATCATCT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.23688685T>A NA hg19 0.02 18.759101 CTCxAAC COVERED NOVEL 0 1 9.929271 KEEP 0 0 0 33 1006 TT 0.999998 0.999998 0 84 60 2873 0 0 232.485631 376 60 13101 591 0.182609 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 29281694 29281694 __UNKNOWN__ IGR SNP C C G rs1820024 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:29281694C>G NA NA AC005307.3 (63107 upstream) : AC007795.1 (79008 downstream) NA NA NA AAAAGGTCACCACTGGAGAAC 0.413 NA NA C||| 451 0.0900559 0.23 0.0562 5008 , , NA 16116 0.0198 NA 0.0616 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.29281694C>G NA hg19 0.02 4.144575 CACxACT COVERED NOVEL 0 0 2.407924 KEEP 0 0 0 8 288 CC 0.99257 0.99257 0 42 60 1452 0 0 130.070788 86 60 3094 141 0.328125 1 RGS9BP 388531 __UNKNOWN__ __UNKNOWN__ 19 33167526 33167526 __UNKNOWN__ Silent SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:33167526C>G ENST00000334176.3 + 1 1214 c.357C>G c.(355-357)ggC>ggG p.G119G NM_207391.2 NP_997274.2 Q6ZS82 R9BP_HUMAN regulator of G protein signaling 9 binding protein 119 NA detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056) integral component of membrane (GO:0016021) central_nervous_system(1)|lung(2) 3 Esophageal squamous(110;0.137) GTGTGGCTGGCGCCTCCTCCG 0.776 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 19 NA NA 33167526 816 1717 2533 SO:0001819 synonymous_variant AW302149 CCDS12424.1 19q13.11 2008-02-05 2007-08-14 ENSG00000186326 388531 30304 protein-coding gene gene with protein product 607814 regulator of G protein signalling 9 binding protein NA 12119397, 8889548 Standard NM_207391 NM_207391 NA Approved FLJ45744, PERRS, R9AP, RGS9 uc002ntp.1 Q6ZS82 ENST00000334176.3:c.357C>G chr19.hg19:g.33167526C>G NA Q6ZVJ6 hg19 CCDS12424.1 0.02 2.967687 TGGxGCC COVERED NOVEL RGS9BP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450337.1 1 3.663595 KEEP 0 1 7 15 391 CC 0.997832 0.997832 0 + 14 60 240 0 0 10.720703 154 60 4176 290 ENST00000334176.3 0.083333 1 RHPN2 85415 __UNKNOWN__ __UNKNOWN__ 19 33490500 33490500 __UNKNOWN__ Missense_Mutation SNP C C T rs201438314 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:33490500C>T ENST00000254260.3 - 10 1252 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q RHPN2_ENST00000400226.4_Missense_Mutation_p.R255Q NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 406 BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}. NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) p.R406Q(1) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) ACCCAGCTGTCGGCGCTGCTG 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) skin(1) 46 40 42 NA NA NA 19 NA NA 33490500 2203 4300 6503 SO:0001583 missense AF268032 CCDS12427.1 19q13.12 2008-02-05 ENSG00000131941 85415 19974 protein-coding gene gene with protein product NA NA 12221077 Standard NM_033103 NM_033103 NA Approved uc002nuf.3 Q8IUC4 ENST00000254260.3:c.1217G>A chr19.hg19:g.33490500C>T ENSP00000254260:p.Arg406Gln NA B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1 hg19 CCDS12427.1 0.02 5.262677 TGTxGGC COVERED . . . . . . . . . . C 18.46 3.628137 0.66901 . . ENSG00000131941 ENST00000254260;ENST00000544458;ENST00000400226 T;T 0.44482 1.92;0.92 4.72 -6.97 0.01616 BRO1 domain (3); 1.251570 0.05432 N 0.546131 T 0.27098 0.0664 L 0.43923 1.385 0.09310 N 1 B 0.20550 0.046 B 0.14578 0.011 T 0.14309 -1.0477 10 0.30854 T 0.27 0.7441 3.3955 0.07304 0.1977:0.0875:0.0954:0.6194 . 406 Q8IUC4 RHPN2_HUMAN Q 406;136;255 ENSP00000254260:R406Q;ENSP00000402244:R255Q ENSP00000254260:R406Q R - 2 0 RHPN2 38182340 0.000000 0.05858 0.018000 0.16275 0.900000 0.52787 -0.317000 0.08060 -1.575000 0.01655 0.484000 0.47621 CGA NOVEL RHPN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450828.2 1 3.042283 KEEP 3 1 22 18 569 CC 0.99986 0.99986 0 - 9 40 296 0 1 18.64441 160 60 5551 232 ENST00000254260.3 0.053254 1 RHPN2 85415 __UNKNOWN__ __UNKNOWN__ 19 33490616 33490616 __UNKNOWN__ Intron SNP A A T rs199764566 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:33490616A>T ENST00000254260.3 - 10 1141 RHPN2_ENST00000400226.4_Intron NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GCTTCACTGCAAAGAGAACCA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 74 60 65 NA NA NA 19 NA NA 33490616 2202 4300 6502 SO:0001627 intron_variant AF268032 CCDS12427.1 19q13.12 2008-02-05 ENSG00000131941 85415 19974 protein-coding gene gene with protein product NA NA 12221077 Standard NM_033103 NM_033103 NA Approved uc002nuf.3 Q8IUC4 ENST00000254260.3:c.1106-5T>A chr19.hg19:g.33490616A>T NA B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1 hg19 CCDS12427.1 0.02 10.302574 TGCxAAG COVERED NOVEL RHPN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450828.2 2 3.575855 KEEP 1 2 60 33 969 AA 0.999999 0.999999 0 - 13 48 409 0 0 24.657486 250 60 8757 405 ENST00000254260.3 0.04943 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 35602029 35602029 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:35602029C>T NA NA AC020907.1 (3888 upstream) : FXYD3 (4702 downstream) NA NA NA CGAGGCACCCCAGAAGCTGCA 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.35602029C>T NA hg19 0.02 15.32503 CCCxAGA COVERED NOVEL 0 2 22.571803 KEEP 0 0 0 75 2578 CC 1 1 0 64 60 2304 0 0 186.527483 311 60 11323 603 0.170667 1 LIN37 55957 __UNKNOWN__ __UNKNOWN__ 19 36243944 36243944 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:36243944C>A ENST00000301159.9 + 6 641 AC002398.9_ENST00000591613.2_Intron|AC002398.11_ENST00000591091.1_RNA NM_019104.2 NP_061977 Q96GY3 LIN37_HUMAN lin-37 DREAM MuvB core complex component NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726) nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053) large_intestine(1)|lung(5) 6 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGCCAAGGGCCTATGCAAGG 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 60 57 NA NA NA 19 NA NA 36243944 2140 4242 6382 SO:0001627 intron_variant BC008939 CCDS62642.1 19q13.12 2014-07-17 2014-07-17 ENSG00000267796 ENSG00000267796 55957 33234 protein-coding gene gene with protein product NA lin-37 homolog (C. elegans) NA 21498570 Standard NM_019104 NM_019104 NA Approved ZK418.4, F25965, lin-37 uc021usw.1 Q96GY3 OTTHUMG00000182070 ENST00000301159.9:c.278-44C>A chr19.hg19:g.36243944C>A NA A8KAQ1|O14557|Q7Z2T9 hg19 0.02 17.792264 GGGxCTA COVERED NOVEL LIN37-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000459109.2 0 40.564596 KEEP 0 0 0 135 4610 CC 1 1 0 + 134 60 4492 0 0 393.15082 323 60 11363 736 ENST00000301159.9 0.293217 1 ZFP14 57677 __UNKNOWN__ __UNKNOWN__ 19 36833134 36833134 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:36833134G>A ENST00000270001.7 - 5 351 NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) ccaggctggagtgcagtggca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046779 CCDS33002.1 19q13.13 2013-01-08 2012-11-27 ENSG00000142065 57677 Zinc fingers, C2H2-type, - 29312 protein-coding gene gene with protein product NA zinc finger protein 14 homolog (mouse) NA 10997877 Standard NM_020917 NM_020917 NA Approved KIAA1559, ZNF531 uc010eex.2 Q9HCL3 ENST00000270001.7:c.236-642C>T chr19.hg19:g.36833134G>A NA A7MD23 hg19 CCDS33002.1 0.02 -0.078959 GGAxTGC UNCOVERED NOVEL ZFP14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452528.1 11 2.407451 KEEP 5 0 0 8 270 GG 0 0 0 - 3 24 107 0 0 10.05516 4 60 151 19 ENST00000270001.7 0.428571 0.077336 SPINT2 10653 __UNKNOWN__ __UNKNOWN__ 19 38774464 38774464 __UNKNOWN__ Intron SNP G G T rs371173990 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:38774464G>T ENST00000587090.1 + 2 319 SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000301244.7_Intron O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 NA NA cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGGAGCttttgtttttttcct 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 37 33 34 NA NA NA 19 NA NA 38774464 2203 4300 6503 SO:0001627 intron_variant U78095 CCDS12510.1, CCDS54261.1 19q13.2 2010-05-12 2005-08-17 ENSG00000167642 ENSG00000167642 10653 11247 protein-coding gene gene with protein product placental bikunin 605124 serine protease inhibitor, Kunitz type, 2 NA 9115294, 9346890 Standard NM_021102 NA Approved Kop, HAI-2 uc002ohr.2 O43291 ENST00000587090.1:c.127+27G>T chr19.hg19:g.38774464G>T NA A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0 hg19 0.02 0.855774 TTTxTTT COVERED NOVEL SPINT2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000458152.1 4 5.865344 KEEP 1 0 0 20 612 GG 0.99986 0.998325 0 + 8 60 156 0 0 8.602334 65 60 2011 117 ENST00000587090.1 0.109589 0.998465 SPTBN4 57731 __UNKNOWN__ __UNKNOWN__ 19 41038611 41038611 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:41038611G>T ENST00000352632.3 + 19 4114 c.4028G>T c.(4027-4029)tGg>tTg p.W1343L SPTBN4_ENST00000392025.1_Missense_Mutation_p.W86L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.W1343L|SPTBN4_ENST00000392023.1_Missense_Mutation_p.W19L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.W1343L|SPTBN4_ENST00000595535.1_Missense_Mutation_p.W1343L Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1343 NA actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192) adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091) actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CATAAGAGATGGCTCCGGCAC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 58 62 NA NA NA 19 NA NA 41038611 2203 4300 6503 SO:0001583 missense AF082075 CCDS12559.1, CCDS42569.1 19q13.13 2013-01-10 ENSG00000160460 57731 Pleckstrin homology (PH) domain containing 14896 protein-coding gene gene with protein product 606214 NA 11086001 Standard NM_020971 NA Approved SPTBN3, KIAA1642 uc002onz.3 Q9H254 ENST00000352632.3:c.4028G>T chr19.hg19:g.41038611G>T ENSP00000263373:p.Trp1343Leu NA E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0 hg19 CCDS12559.1 0.02 12.11518 GATxGCT COVERED . . . . . . . . . . G 28.0 4.880886 0.91740 . . ENSG00000160460 ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023 T;T;T;T 0.60040 1.98;1.98;0.22;0.64 4.77 4.77 0.60923 . 0.190217 0.37053 N 0.002263 T 0.62648 0.2445 L 0.35487 1.065 0.54753 D 0.999986 D;D;D;D;D;D 0.89917 1.0;1.0;0.999;0.994;0.999;1.0 D;D;D;P;D;D 0.97110 0.999;0.997;0.996;0.868;0.996;1.0 T 0.54761 -0.8245 10 0.06365 T 0.9 . 16.7293 0.85431 0.0:0.0:1.0:0.0 . 1343;86;86;19;1343;1343 E9PDB1;Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06 .;.;.;.;SPTN4_HUMAN;. L 1343;1343;1343;86;19 ENSP00000263373:W1343L;ENSP00000340345:W1343L;ENSP00000375879:W86L;ENSP00000375877:W19L ENSP00000340345:W1343L W + 2 0 SPTBN4 45730451 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.451000 0.97610 2.457000 0.83068 0.561000 0.74099 TGG NOVEL SPTBN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462559.2 0 21.366958 KEEP 0 0 0 71 2417 GG 1 1 0 + 97 60 3366 0 0 297.658097 223 60 7996 499 ENST00000352632.3 0.303125 1 CYP2A6 1548 __UNKNOWN__ __UNKNOWN__ 19 41351211 41351211 __UNKNOWN__ Silent SNP G G A rs150586234 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:41351211G>A ENST00000301141.5 - 7 1169 c.1149C>T c.(1147-1149)ttC>ttT p.F383F CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 383 NA coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789) coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495) TAGGGAGGAAGAAATCCCGAA 0.552 NA NA .||| 8 0.00159744 0 0.0029 5008 , , NA 16324 0 NA 0.006 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 101 99 100 NA NA NA 19 NA NA 41351211 2203 4300 6503 SO:0001819 synonymous_variant AF182275 CCDS12568.1 19q13.2 2013-11-11 2003-01-14 ENSG00000255974 ENSG00000255974 1548 Cytochrome P450s 2610 protein-coding gene gene with protein product 122720 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6 CYP2A3 NA 7668294, 2748347 Standard NM_000762 NM_000762 NA Approved CPA6, CYP2A uc002opl.4 P11509 OTTHUMG00000182713 ENST00000301141.5:c.1149C>T chr19.hg19:g.41351211G>A NA A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48 hg19 CCDS12568.1 0.02 9.838525 GAAxAAA COVERED NOVEL CYP2A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463259.1 3 3.669831 KEEP 0 2 56 32 1076 GG 0.999998 0.999998 0 - 28 60 963 0 0 70.465657 245 60 8839 376 ENST00000301141.5 0.102564 1 CYP2A6 1548 __UNKNOWN__ __UNKNOWN__ 19 41351321 41351321 __UNKNOWN__ Missense_Mutation SNP C C T rs200267449 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:41351321C>T ENST00000301141.5 - 7 1059 c.1039G>A c.(1039-1041)Gcc>Acc p.A347T CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 347 NA coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789) coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495) GGCATCTTGGCCCGGTCCTCA 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 115 104 108 NA NA NA 19 NA NA 41351321 2203 4300 6503 SO:0001583 missense AF182275 CCDS12568.1 19q13.2 2013-11-11 2003-01-14 ENSG00000255974 ENSG00000255974 1548 Cytochrome P450s 2610 protein-coding gene gene with protein product 122720 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6 CYP2A3 NA 7668294, 2748347 Standard NM_000762 NM_000762 NA Approved CPA6, CYP2A uc002opl.4 P11509 OTTHUMG00000182713 ENST00000301141.5:c.1039G>A chr19.hg19:g.41351321C>T ENSP00000301141:p.Ala347Thr NA A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48 hg19 CCDS12568.1 0.02 9.840966 TGGxCCG COVERED . . . . . . . . . . - 4.025 0.002161 0.07819 . . ENSG00000255974 ENST00000301141 T 0.69306 -0.39 2.76 -2.87 0.05700 . 0.614141 0.16066 U 0.231229 T 0.43853 0.1266 L 0.31120 0.905 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.09377 0.002;0.004 T 0.17319 -1.0373 10 0.22706 T 0.39 . 4.9051 0.13795 0.0:0.2915:0.1649:0.5436 . 347;347 Q13120;P11509 .;CP2A6_HUMAN T 347 ENSP00000301141:A347T ENSP00000301141:A347T A - 1 0 CYP2A6 46043161 0.000000 0.05858 0.011000 0.14972 0.659000 0.38960 -1.191000 0.03055 -0.603000 0.05767 -0.912000 0.02778 GCC NOVEL CYP2A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463259.1 2 8.158839 KEEP 10 1 22 35 1187 CC 0.999999 0.999999 0 - 28 60 921 0 0 66.249324 246 60 8467 372 ENST00000301141.5 0.10219 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 41567484 41567484 __UNKNOWN__ IGR SNP C C T rs36008189 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:41567484C>T NA NA CYP2B6 (43181 upstream) : CYP2A13 (26892 downstream) NA NA NA GCTTGGTCTACCAAGGCTTCC 0.478 NA NA C||| 1288 0.257188 0.3941 0.196 5008 , , NA 17438 0.2063 NA 0.2316 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.41567484C>T NA hg19 0.02 2.014927 CTAxCAA COVERED NOVEL 0 1 2.708739 KEEP 0 0 0 9 312 CC 0.99254 0.9667 0 17 40 596 0 0 53.278517 36 60 1290 81 0.320755 0.973965 CEACAM1 634 __UNKNOWN__ __UNKNOWN__ 19 43012483 43012483 __UNKNOWN__ 3'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:43012483C>T ENST00000161559.6 - 0 2493 LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000351134.3_3'UTR|CEACAM1_ENST00000352591.5_3'UTR|CEACAM1_ENST00000403444.3_3'UTR NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) NA NA angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) CCTCCTGAAGCTATAACCCCT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M72238 CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1 19q13.2 2014-05-16 ENSG00000079385 ENSG00000079385 634 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1814 protein-coding gene gene with protein product 109770 BGP NA 2457922, 2025273 Standard NM_001712 NM_001712 NA Approved BGP1, CD66a uc002otv.3 P13688 OTTHUMG00000151078 ENST00000161559.6:c.*778G>A chr19.hg19:g.43012483C>T NA A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9 hg19 CCDS12609.1 0.02 12.973537 AAGxTAT COVERED NOVEL CEACAM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000321190.2 0 10.225618 KEEP 0 0 0 34 1167 CC 0.999998 0.999998 0 - 79 60 2722 0 0 232.985607 235 60 8576 437 ENST00000161559.6 0.251592 1 KLC3 147700 __UNKNOWN__ __UNKNOWN__ 19 45850092 45850092 __UNKNOWN__ Intron SNP C C A rs372686045 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:45850092C>A ENST00000391946.2 + 3 591 KLC3_ENST00000585434.1_Intron|KLC3_ENST00000470402.1_Intron NM_177417.2 NP_803136.2 Q6P597 KLC3_HUMAN kinesin light chain 3 NA NA axon cargo transport (GO:0008088) ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005) microtubule motor activity (GO:0003777) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CACAGTCCCCCAGACCCTCCT 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092481 CCDS12660.2 19q13 2013-01-10 ENSG00000104892 ENSG00000104892 147700 Tetratricopeptide (TTC) repeat domain containing 20717 protein-coding gene gene with protein product 601334 NA Standard NM_145275 XM_005258536 NA Approved KLC2L, KNS2B, KLCt uc002pbf.1 Q6P597 OTTHUMG00000143722 ENST00000391946.2:c.489+60C>A chr19.hg19:g.45850092C>A NA A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9 hg19 CCDS12660.2 0.02 4.020362 CCCxAGA COVERED NOVEL KLC3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000289776.1 0 3.574988 KEEP 0 2 57 32 1088 CC 0.999998 0.99999 0 + 5 60 182 0 0 12.177488 86 60 3144 214 ENST00000391946.2 0.054945 0.999992 KLC3 147700 __UNKNOWN__ __UNKNOWN__ 19 45850096 45850096 __UNKNOWN__ Intron SNP C C T rs56146951|rs113906887 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:45850096C>T ENST00000391946.2 + 3 591 KLC3_ENST00000585434.1_Intron|KLC3_ENST00000470402.1_Intron NM_177417.2 NP_803136.2 Q6P597 KLC3_HUMAN kinesin light chain 3 NA NA axon cargo transport (GO:0008088) ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005) microtubule motor activity (GO:0003777) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GTCCCCCAGACCCTCCTTAGA 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092481 CCDS12660.2 19q13 2013-01-10 ENSG00000104892 ENSG00000104892 147700 Tetratricopeptide (TTC) repeat domain containing 20717 protein-coding gene gene with protein product 601334 NA Standard NM_145275 XM_005258536 NA Approved KLC2L, KNS2B, KLCt uc002pbf.1 Q6P597 OTTHUMG00000143722 ENST00000391946.2:c.489+64C>T chr19.hg19:g.45850096C>T NA A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9 hg19 CCDS12660.2 0.02 3.921016 AGAxCCT COVERED NOVEL KLC3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000289776.1 0 4.765265 KEEP 0 2 42 31 1006 CC 0.999998 0.99999 0 + 6 60 172 0 0 10.605538 85 60 2922 208 ENST00000391946.2 0.065934 0.999992 RSPH6A 81492 __UNKNOWN__ __UNKNOWN__ 19 46305291 46305291 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:46305291G>A ENST00000221538.3 - 4 1941 RSPH6A_ENST00000597055.1_Intron|RSPH6A_ENST00000600188.1_Intron NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) NA NA intracellular (GO:0005622) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 AAGGACCGGGGAGATGGACCC 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136761 CCDS12675.1 19q13.3 2010-02-17 2009-11-18 2009-11-18 ENSG00000104941 ENSG00000104941 81492 14241 protein-coding gene gene with protein product 607548 radial spokehead-like 1 RSHL1 NA 11237735 Standard NM_030785 NA Approved RSP4, RSP6, RSPH4B uc002pdm.3 Q9H0K4 ENST00000221538.3:c.1798+86C>T chr19.hg19:g.46305291G>A NA Q53FE2|Q6PEZ9 hg19 CCDS12675.1 0.02 5.818255 GGGxAGA COVERED NOVEL RSPH6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461657.1 0 11.099791 KEEP 0 0 0 37 1217 GG 1 1 0 - 60 60 1984 0 0 180.056881 105 60 3487 213 ENST00000221538.3 0.363636 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 48459322 48459322 __UNKNOWN__ IGR SNP T T A rs192754318 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:48459322T>A NA NA AC124853.1 (57249 upstream) : BSPH1 (11980 downstream) NA NA NA agagatggggtttcgccatgt 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.48459322T>A NA hg19 0.02 -0.175247 GGGxTTC UNCOVERED NOVEL 0 3 3.007512 KEEP 12 0 0 10 285 TT 0 0 0 4 40 131 0 0 10.665143 16 40 483 41 0.2 0.387407 NUCB1 4924 __UNKNOWN__ __UNKNOWN__ 19 49422277 49422277 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:49422277G>A ENST00000405315.4 + 9 1150 NUCB1_ENST00000407032.1_Intron|NUCB1_ENST00000263273.5_Intron|NUCB1_ENST00000485798.1_Intron NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 NA NA endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) calcium ion binding (GO:0005509)|DNA binding (GO:0003677) cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) CCTCTCGCTTGCTCCTGCAGC 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 41 41 NA NA NA 19 NA NA 49422277 2202 4300 6502 SO:0001627 intron_variant BC002356 CCDS12740.1 19q13.33 2013-01-10 ENSG00000104805 ENSG00000104805 4924 EF-hand domain containing 8043 protein-coding gene gene with protein product 601323 NA 8661046 Standard NM_006184 NM_006184 NA Approved NUC, Calnuc uc002plb.4 Q02818 OTTHUMG00000152514 ENST00000405315.4:c.817-10G>A chr19.hg19:g.49422277G>A NA B2RD64|Q15838|Q7Z4J7|Q9BUR1 hg19 CCDS12740.1 0.02 1.695773 CTTxCTC COVERED NOVEL NUCB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326545.2 0 4.21188 KEEP 0 0 0 14 474 GG 0.995343 0.994457 0 + 35 60 1105 0 0 103.620957 44 60 1578 107 ENST00000405315.4 0.443038 0.99911 FLT3LG 2323 __UNKNOWN__ __UNKNOWN__ 19 49979106 49979106 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:49979106A>C ENST00000594009.1 + 2 223 FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000600429.1_Intron|FLT3LG_ENST00000344019.3_Intron|CTD-3148I10.9_ENST00000599536.1_Intron|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000595510.1_Intron|FLT3LG_ENST00000204637.2_Intron|FLT3LG_ENST00000597551.1_Intron NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand NA NA embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165) extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020) receptor binding (GO:0005102) large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CCTTCCCCCCACttttttttt 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 14 14 14 NA NA NA 19 NA NA 49979106 2201 4295 6496 SO:0001627 intron_variant U04806 CCDS12767.1, CCDS62753.1 19q13.3 2014-01-30 ENSG00000090554 2323 Endogenous ligands 3766 protein-coding gene gene with protein product 600007 NA 8145851, 7824267 Standard NM_001204502 NA Approved uc010yau.2 P49771 ENST00000594009.1:c.144+48A>C chr19.hg19:g.49979106A>C NA A0AVC2|B9EGH2|Q05C96 hg19 CCDS12767.1 0.02 1.355535 CCCxCTT COVERED NOVEL FLT3LG-007 KNOWN alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465305.1 1 5.352199 KEEP 0 6 52 38 873 AA 1 0.999678 0 + 14 70 207 2 0 11.444732 70 60 1845 184 ENST00000594009.1 0.166667 0.999678 AKT1S1 84335 __UNKNOWN__ __UNKNOWN__ 19 50379858 50379858 __UNKNOWN__ Splice_Site SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:50379858A>C ENST00000391834.2 - 1 719 c.e1+1 AKT1S1_ENST00000391835.1_Splice_Site|AKT1S1_ENST00000391832.3_Intron|AKT1S1_ENST00000344175.5_Intron NM_032375.4 NP_115751.3 AKT1 substrate 1 (proline-rich) NA NA kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) GCCTCCACTCACGTGCCCGTA 0.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001630 splice_region_variant BC022241 CCDS12784.1, CCDS59410.1 19q13.33 2008-02-05 ENSG00000204673 ENSG00000204673 84335 28426 protein-coding gene gene with protein product proline-rich Akt substrate, 40 kDa 610221 NA 12524439 Standard NM_032375 NM_032375 NA Approved PRAS40, MGC2865, Lobe uc031rmg.1 Q96B36 OTTHUMG00000150246 ENST00000391834.2:c.6+1T>G chr19.hg19:g.50379858A>C NA hg19 CCDS12784.1 0.02 8.87403 CTCxCGT COVERED . . . . . . . . . . A 27.5 4.835520 0.91117 . . ENSG00000204673 ENST00000391835 . . . 5.16 5.16 0.70880 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 11.2942 0.49269 1.0:0.0:0.0:0.0 . . . . . -1 . . . - . . AKT1S1 55071670 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.949000 0.56668 2.165000 0.68154 0.379000 0.24179 . NOVEL AKT1S1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317072.2 0 75.491697 KEEP 0 0 0 251 7314 AA 1 1 0 Intron - 79 60 2807 0 0 257.401519 134 60 4476 619 ENST00000391834.2 0.370892 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 50639915 50639915 __UNKNOWN__ IGR SNP T T A rs11880139 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:50639915T>A NA NA CTD-2126E3.4 (60756 upstream) : IZUMO2 (15889 downstream) NA NA NA aatttccatgtTGACTCTAGg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.50639915T>A NA hg19 0.02 -0.298222 ATGxTGA COVERED NOVEL 0 5 4.510827 KEEP 2 0 0 15 444 TT 0.995343 0.777423 0 4 40 120 0 0 8.571526 30 60 1036 60 0.117647 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 50639964 50639964 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:50639964G>C NA NA CTD-2126E3.4 (60805 upstream) : IZUMO2 (15840 downstream) NA NA NA ccagccacttgggaggctgag 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.50639964G>C NA hg19 0.02 -0.280486 CTTxGGA COVERED NOVEL 0 7 6.007186 KEEP 4 0 0 20 647 GG 0.997832 0.738068 0 3 30 106 0 0 7.709754 29 60 1029 61 0.09375 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 50640050 50640050 __UNKNOWN__ IGR SNP A A G rs76516015 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:50640050A>G NA NA CTD-2126E3.4 (60891 upstream) : IZUMO2 (15754 downstream) NA NA NA cagcccgggcaacagagtgag 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.50640050A>G NA hg19 0.02 -0.166685 GGCxACA COVERED NOVEL 0 0 3.608871 KEEP 0 0 0 12 340 AA 0.994391 0.351961 0 3 30 110 0 0 8.832707 16 60 553 39 0.157895 0.353947 POLD1 5424 __UNKNOWN__ __UNKNOWN__ 19 50916608 50916608 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:50916608A>G ENST00000440232.2 + 18 2207 POLD1_ENST00000599857.1_Intron|POLD1_ENST00000595904.1_Intron NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit NA NA base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634) 3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) cagaggcgggacccCTCCCCC 0.612 NA NA DNA polymerases (catalytic subunits) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12795.1 19q13.3 2014-09-17 2012-05-18 ENSG00000062822 ENSG00000062822 5424 DNA polymerases 9175 protein-coding gene gene with protein product CDC2 homolog (S. cerevisiae) 174761 polymerase (DNA directed), delta 1, catalytic subunit (125kD) POLD NA 1722322 Standard NM_001256849 NA Approved CDC2 uc002psc.5 P28340 ENST00000440232.2:c.2155-75A>G chr19.hg19:g.50916608A>G NA Q8NER3|Q96H98 hg19 CCDS12795.1 0.02 1.178652 GGGxCCC COVERED NOVEL POLD1-002 KNOWN alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464732.1 2 5.135819 KEEP 0 1 5 19 505 AA 0.999863 0.997416 0 + 11 60 169 1 2 9.239962 60 60 1656 122 ENST00000440232.2 0.15493 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 51261855 51261855 __UNKNOWN__ IGR SNP A A G rs57321543 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:51261855A>G NA NA CLEC11A (32881 upstream) : GPR32 (11865 downstream) NA NA NA TGGCCCGCACAGTCTCCACCG 0.597 NA NA a||| 673 0.134385 0.3003 0.0548 5008 , , NA 18795 0.1766 NA 0.0109 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.51261855A>G NA hg19 0.02 6.66917 CACxGTC COVERED NOVEL 0 8 7.286557 KEEP 0 2 56 44 1317 AA 1 1 0 8 60 242 0 0 13.038369 218 60 7550 320 0.035398 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 54637229 54637229 __UNKNOWN__ IGR SNP T T C rs112168252|rs79362062 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:54637229T>C NA NA PRPF31 (2089 upstream) : CNOT3 (4214 downstream) NA NA NA ctctctctcttcctccctctc 0.627 NA NA T||| 1173 0.234225 0.2368 0.2767 5008 , , NA 36038 0.2321 NA 0.2117 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.54637229T>C NA hg19 0.02 -0.043862 TCTxCCT UNCOVERED NOVEL 0 5 2.996429 KEEP 0 0 0 10 277 TT 0.992708 0.023898 0 3 39 101 1 0 10.554261 1 41 32 31 0.75 0.024074 MBOAT7 79143 __UNKNOWN__ __UNKNOWN__ 19 54684811 54684811 __UNKNOWN__ Missense_Mutation SNP T T C rs200188828 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:54684811T>C ENST00000245615.1 - 6 1013 c.533A>G c.(532-534)gAg>gGg p.E178G MBOAT7_ENST00000431666.2_Missense_Mutation_p.E105G|MBOAT7_ENST00000338624.6_Missense_Mutation_p.E105G|MBOAT7_ENST00000391754.1_Missense_Mutation_p.E178G NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 178 NA glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) lysophospholipid acyltransferase activity (GO:0071617) endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAAGGGCTGCTCCAGCCAGTC 0.721 NA NA OREG0003644 type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(97;826 2151 10470 22540) NA NA 0 2 4 3 NA NA NA 19 NA NA 54684811 1737 3558 5295 SO:0001583 missense AF211969 CCDS12883.1, CCDS54315.1, CCDS54316.1 19q13.4 2008-12-15 2008-01-17 2008-01-17 ENSG00000125505 ENSG00000125505 79143 15505 protein-coding gene gene with protein product lysophosphatidylinositol acyltransferase 606048 leukocyte receptor cluster (LRC) member 4 LENG4 NA 10941842, 8702217, 18094042 Standard NM_024298 NM_024298 NA Approved BB1, hMBOA-7, LPIAT uc002qdr.3 Q96N66 OTTHUMG00000066516 ENST00000245615.1:c.533A>G chr19.hg19:g.54684811T>C ENSP00000245615:p.Glu178Gly 1002 A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9 hg19 CCDS12883.1 0.02 -0.384902 TGCxCCA COVERED . . . . . . . . . . t 15.07 2.724382 0.48728 . . ENSG00000125505 ENST00000431666;ENST00000338624;ENST00000245615;ENST00000391754;ENST00000414665 T;T;T;T;T 0.74947 -0.89;-0.89;-0.89;-0.89;-0.89 4.06 4.06 0.47325 . 0.184664 0.23762 U 0.044815 T 0.65123 0.2661 L 0.46157 1.445 0.31189 N 0.701203 B;B;P 0.39576 0.351;0.302;0.679 B;B;B 0.35039 0.129;0.057;0.194 T 0.70410 -0.4879 10 0.42905 T 0.14 -18.9591 12.37 0.55250 0.0:0.0:0.0:1.0 . 160;105;178 B4DDH8;Q96N66-2;Q96N66 .;.;MBOA7_HUMAN G 105;105;178;178;178 ENSP00000410503:E105G;ENSP00000344377:E105G;ENSP00000245615:E178G;ENSP00000375634:E178G;ENSP00000388250:E178G ENSP00000245615:E178G E - 2 0 MBOAT7 59376623 0.351000 0.24887 1.000000 0.80357 0.817000 0.46193 0.664000 0.25068 1.646000 0.50622 0.446000 0.29264 GAG NOVEL MBOAT7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142203.1 0 2.380847 KEEP 0 1 8 11 319 TT 0.993634 0.920741 0 - 5 60 117 0 0 7.35298 39 60 1224 75 ENST00000245615.1 0.113636 0.92664 LILRA6 79168 __UNKNOWN__ __UNKNOWN__ 19 54745507 54745507 __UNKNOWN__ Silent SNP T T C rs61734496 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:54745507T>C ENST00000396365.2 - 4 642 c.603A>G c.(601-603)acA>acG p.T201T LILRA6_ENST00000440558.2_Silent_p.T201T|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Silent_p.T201T|LILRA6_ENST00000245621.5_Silent_p.T201T|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Silent_p.T201T NM_024318.2 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 201 NA immune system process (GO:0002376) integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGGTGTTTGTATAATAGT 0.612 NA NA .||| 2158 0.430911 0.469 0.4294 5008 , , NA 18324 0.5685 NA 0.3628 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA NA 0 40 45 43 NA NA NA 19 NA NA 54745507 1866 3754 5620 SO:0001819 synonymous_variant AF041262 CCDS42610.1 19q13.4 2013-01-11 2005-05-17 2005-05-17 ENSG00000244482 ENSG00000244482 79168 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 15495 protein-coding gene gene with protein product NA leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6 LILRB6 NA 10941842 Standard NM_024318 NM_024318 NA Approved ILT8, CD85b Q6PI73 OTTHUMG00000066635 ENST00000396365.2:c.603A>G chr19.hg19:g.54745507T>C NA hg19 CCDS42610.1 0.02 4.487478 GTTxGTA COVERED NOVEL LILRA6-003 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000313725.1 2 3.006498 KEEP 9 0 0 10 286 TT 0.99254 0.99254 0 - 12 27 437 0 0 32.487469 108 60 3689 183 ENST00000396365.2 0.1 0.999999 LILRA6 79168 __UNKNOWN__ __UNKNOWN__ 19 54745508 54745508 __UNKNOWN__ Missense_Mutation SNP G G A rs61734497 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:54745508G>A ENST00000396365.2 - 4 641 c.602C>T c.(601-603)aCa>aTa p.T201I LILRA6_ENST00000440558.2_Missense_Mutation_p.T201I|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.T201I|LILRA6_ENST00000245621.5_Missense_Mutation_p.T201I|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.T201I NM_024318.2 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 201 NA immune system process (GO:0002376) integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGTTTGTATAATAGTA 0.617 NA NA .||| 2021 0.403554 0.3759 0.415 5008 , , NA 18511 0.5675 NA 0.3628 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA NA 0 39 44 42 NA NA NA 19 NA NA 54745508 1868 3761 5629 SO:0001583 missense AF041262 CCDS42610.1 19q13.4 2013-01-11 2005-05-17 2005-05-17 ENSG00000244482 ENSG00000244482 79168 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 15495 protein-coding gene gene with protein product NA leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6 LILRB6 NA 10941842 Standard NM_024318 NM_024318 NA Approved ILT8, CD85b Q6PI73 OTTHUMG00000066635 ENST00000396365.2:c.602C>T chr19.hg19:g.54745508G>A ENSP00000379651:p.Thr201Ile NA hg19 CCDS42610.1 0.02 3.68058 TTTxTAT COVERED . . . . . . . . . . g 14.67 2.605213 0.46423 . . ENSG00000244482 ENST00000440558;ENST00000270464;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621 T;T;T;T;T 0.13901 2.55;2.55;2.55;2.55;2.55 2.38 -4.75 0.03239 Immunoglobulin-like fold (1); 2.023030 0.02301 N 0.071197 T 0.19485 0.0468 L 0.32530 0.975 0.80722 P 0.0 B;D;B;B;P 0.54207 0.17;0.965;0.16;0.077;0.671 B;P;B;B;B 0.58780 0.086;0.845;0.12;0.118;0.343 T 0.32719 -0.9896 9 0.66056 D 0.02 . 5.4334 0.16466 0.0:0.1945:0.454:0.3514 . 201;201;201;201;201 C9JFH3;Q6PI73;F8WCY4;D3YTC4;F8W6G6 .;LIRA6_HUMAN;.;.;. I 201 ENSP00000390120:T201I;ENSP00000270464:T201I;ENSP00000411227:T201I;ENSP00000379651:T201I;ENSP00000245621:T201I ENSP00000245621:T201I T - 2 0 LILRA6 59437320 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -2.356000 0.01087 -1.704000 0.01407 -2.001000 0.00444 ACA NOVEL LILRA6-003 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000313725.1 2 3.006794 KEEP 8 0 0 10 299 GG 0.99254 0.99254 0 - 12 27 414 0 0 30.14256 109 60 3937 183 ENST00000396365.2 0.099174 0.999999 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55278974 55278974 __UNKNOWN__ Intron SNP T T C rs139892663 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:55278974T>C ENST00000434419.2 + 5 744 KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) CAAATCTGAATGTGCCTCTCT 0.507 NA NA .||| 39 0.00778754 0.0272 0.0029 5008 , , NA 17445 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000434419.2:c.715+3581T>C chr19.hg19:g.55278974T>C NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 0.02 17.574783 GAAxGTG COVERED NOVEL KIR2DL3-201 KNOWN basic|appris_principal protein_coding NA protein_coding 3 4.232493 KEEP 15 2 39 28 820 TT 0.999997 0.999997 0 + 13 27 449 0 0 25.32187 457 60 15808 634 ENST00000434419.2 0.02766 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 56274610 56274610 __UNKNOWN__ IGR SNP C C T rs147263402 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:56274610C>T NA NA RFPL4A (69 upstream) : RFPL4AL1 (5896 downstream) NA NA NA AGAACTTTTCCGCTAGATACA 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.56274610C>T NA hg19 0.02 8.247805 TTCxGCT COVERED NOVEL 0 0 6.018693 KEEP 62 0 0 20 648 CC 0.99986 0.99986 0 9 49 286 0 0 17.432815 171 50 5180 313 0.05 1 RFPL4AL1 729974 __UNKNOWN__ __UNKNOWN__ 19 56283029 56283029 __UNKNOWN__ Intron SNP A A G rs78462763 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:56283029A>G ENST00000341750.4 + 2 35 NM_001277397.1 NP_001264326.1 F8VTS6 RFAL1_HUMAN ret finger protein-like 4A-like 1 NA NA zinc ion binding (GO:0008270) NA TTGTGTCTTCATCACTAGCAG 0.393 NA NA A||| 1156 0.230831 0.1634 0.3026 5008 , , NA 27388 0.2242 NA 0.3171 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS59425.1 19q13.42 2013-02-22 ENSG00000229292 ENSG00000229292 729974 45147 protein-coding gene gene with protein product NA NA Standard NM_001277397 NA Approved uc031rnc.1 F8VTS6 OTTHUMG00000165450 ENST00000341750.4:c.-9-133A>G chr19.hg19:g.56283029A>G NA hg19 CCDS59425.1 0.02 8.632305 TTCxTCA COVERED NOVEL RFPL4AL1-001 NOVEL not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384186.1 0 3.64154 KEEP 0 1 25 21 612 AA 0.999879 0.999879 0 + 17 40 537 0 0 34.506057 245 60 8341 292 ENST00000341750.4 0.064885 1 RFPL4AL1 729974 __UNKNOWN__ __UNKNOWN__ 19 56284464 56284464 __UNKNOWN__ Silent SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:56284464A>G ENST00000341750.4 + 3 827 c.783A>G c.(781-783)caA>caG p.Q261Q NM_001277397.1 NP_001264326.1 F8VTS6 RFAL1_HUMAN ret finger protein-like 4A-like 1 261 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. NA zinc ion binding (GO:0008270) NA GTGGAAGTCAAGATGATCAGA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS59425.1 19q13.42 2013-02-22 ENSG00000229292 ENSG00000229292 729974 45147 protein-coding gene gene with protein product NA NA Standard NM_001277397 NA Approved uc031rnc.1 F8VTS6 OTTHUMG00000165450 ENST00000341750.4:c.783A>G chr19.hg19:g.56284464A>G NA hg19 CCDS59425.1 0.02 22.91696 TCAxGAT COVERED NOVEL RFPL4AL1-001 NOVEL not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384186.1 6 6.589877 KEEP 104 2 72 47 1480 AA 1 1 0 + 20 40 704 0 0 46.743494 331 51 11818 919 ENST00000341750.4 0.05698 1 RFPL4AL1 729974 __UNKNOWN__ __UNKNOWN__ 19 56284510 56284510 __UNKNOWN__ Missense_Mutation SNP A A G rs371408135 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr19:56284510A>G ENST00000341750.4 + 3 873 c.829A>G c.(829-831)Act>Gct p.T277A NM_001277397.1 NP_001264326.1 F8VTS6 RFAL1_HUMAN ret finger protein-like 4A-like 1 277 NA zinc ion binding (GO:0008270) NA CAATCCATCCACTGCCAGTGC 0.433 NA NA a||| 22 0.00439297 0.0015 0.0086 5008 , , NA 25291 0 NA 0.0109 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59425.1 19q13.42 2013-02-22 ENSG00000229292 ENSG00000229292 729974 45147 protein-coding gene gene with protein product NA NA Standard NM_001277397 NA Approved uc031rnc.1 F8VTS6 OTTHUMG00000165450 ENST00000341750.4:c.829A>G chr19.hg19:g.56284510A>G ENSP00000345151:p.Thr277Ala NA hg19 CCDS59425.1 0.02 20.242549 TCCxCTG COVERED . . . . . . . . . . a 3.839 -0.034156 0.07543 . . ENSG00000229292 ENST00000341750 T 0.54479 0.57 1.27 1.27 0.21489 . . . . . T 0.33118 0.0852 N 0.24115 0.695 . . . . . . . . . T 0.37384 -0.9708 6 0.09843 T 0.71 -28.7027 6.701 0.23225 1.0:0.0:0.0:0.0 . . . . A 277 ENSP00000345151:T277A ENSP00000345151:T277A T + 1 0 CTD-2611O12.2 60976322 0.000000 0.05858 0.001000 0.08648 0.007000 0.05969 0.076000 0.14712 0.855000 0.35359 0.254000 0.18369 ACT NOVEL RFPL4AL1-001 NOVEL not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384186.1 5 3.645951 KEEP 52 4 119 54 1685 AA 1 1 0 + 18 45 538 0 0 30.130864 405 51 13644 1053 ENST00000341750.4 0.042553 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3677765 3677765 __UNKNOWN__ Nonsense_Mutation SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:3677765G>A ENST00000344754.4 - 9 2346 c.2347C>T c.(2347-2349)Cag>Tag p.Q783* SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.Q783* NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 783 Ig-like C2-type 7. NA cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GTGGAGAGCTGGGCACCAGCC 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 54 53 54 NA NA NA 20 NA NA 3677765 2201 4300 6501 SO:0001587 stop_gained AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.2347C>T chr20.hg19:g.3677765G>A ENSP00000341141:p.Gln783* NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 8.835917 GCTxGGC COVERED . . . . . . . . . . G 22.7 4.320045 0.81469 . . ENSG00000088827 ENST00000344754;ENST00000202578 . . . 5.31 2.04 0.26737 . 0.193278 0.25817 N 0.028105 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.06099 T 0.92 . 4.2583 0.10728 0.087:0.1546:0.5989:0.1595 . . . . X 783 . ENSP00000202578:Q783X Q - 1 0 SIGLEC1 3625765 0.005000 0.15991 0.812000 0.32479 0.011000 0.07611 0.620000 0.24403 0.753000 0.32945 0.561000 0.74099 CAG NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 0 11.13356 KEEP 0 0 0 37 1210 GG 1 1 0 - 138 60 4510 0 0 459.572614 69 60 2413 273 ENST00000344754.4 0.666667 1 CDS2 8760 __UNKNOWN__ __UNKNOWN__ 20 5167316 5167316 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:5167316C>G ENST00000460006.1 + 10 1135 CDS2_ENST00000379062.4_Intron|CDS2_ENST00000535100.1_Intron|CDS2_ENST00000379070.3_Intron NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) phosphatidate cytidylyltransferase activity (GO:0004605) cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 GCCGGTCTCTCTGTTATTCCT 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 197 162 174 NA NA NA 20 NA NA 5167316 2203 4300 6503 SO:0001627 intron_variant AF069532 CCDS13088.1 20p13 2006-03-28 ENSG00000101290 ENSG00000101290 8760 2.7.7.41 1801 protein-coding gene gene with protein product 603549 NA 9806839, 9889000 Standard NM_003818 NA Approved uc002wls.3 O95674 OTTHUMG00000031801 ENST00000460006.1:c.829-17C>G chr20.hg19:g.5167316C>G NA B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2 hg19 CCDS13088.1 0.02 14.105814 TCTxTGT COVERED NOVEL CDS2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077858.2 0 8.427227 KEEP 0 0 0 28 974 CC 0.999997 0.999997 0 + 73 60 2680 0 0 229.467124 236 60 8541 420 ENST00000460006.1 0.236246 1 FLRT3 23767 __UNKNOWN__ __UNKNOWN__ 20 14307653 14307653 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:14307653C>G ENST00000378053.3 - 2 756 c.500G>C c.(499-501)aGc>aCc p.S167T FLRT3_ENST00000341420.4_Missense_Mutation_p.S167T|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 167 NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578) chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057) breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GGGAATTGTGCTAAGGTGATT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 104 102 103 NA NA NA 20 NA NA 14307653 2203 4300 6503 SO:0001583 missense AF169677 CCDS13121.1 20p11 2013-02-11 ENSG00000125848 ENSG00000125848 23767 Fibronectin type III domain containing 3762 protein-coding gene gene with protein product 604808 NA 10644439 Standard NM_013281 NM_198391 NA Approved uc002wow.2 Q9NZU0 OTTHUMG00000031914 ENST00000378053.3:c.500G>C chr20.hg19:g.14307653C>G ENSP00000367292:p.Ser167Thr NA D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259 hg19 CCDS13121.1 0.02 22.089251 GTGxTAA COVERED . . . . . . . . . . C 17.67 3.446008 0.63178 . . ENSG00000125848 ENST00000378053;ENST00000341420;ENST00000541882 T;T 0.02258 4.37;4.37 6.06 6.06 0.98353 . 0.000000 0.85682 D 0.000000 T 0.03827 0.0108 N 0.05012 -0.13 0.80722 D 1 P 0.46327 0.876 P 0.54312 0.748 T 0.68727 -0.5332 10 0.33141 T 0.24 -15.0327 20.6208 0.99490 0.0:1.0:0.0:0.0 . 167 Q9NZU0 FLRT3_HUMAN T 167 ENSP00000367292:S167T;ENSP00000339912:S167T ENSP00000339912:S167T S - 2 0 FLRT3 14255653 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.818000 0.86416 2.882000 0.98803 0.655000 0.94253 AGC NOVEL FLRT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078075.1 4 9.330497 KEEP 0 0 0 31 1103 CC 0.999997 0.999997 0 - 112 60 4013 0 0 334.54388 433 60 15688 699 ENST00000378053.3 0.205505 1 MACROD2 140733 __UNKNOWN__ __UNKNOWN__ 20 16030824 16030824 __UNKNOWN__ 3'UTR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:16030824T>C ENST00000217246.4 + 0 1976 MACROD2_ENST00000402914.1_3'UTR NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 NA NA brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278) nucleus (GO:0005634) deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798) breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) AGTGGCTTGATTGAACACTCA 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC101218 CCDS13120.2, CCDS33443.1 20p12.1 2011-04-28 2007-07-24 2007-07-24 ENSG00000172264 ENSG00000172264 140733 16126 protein-coding gene gene with protein product 611567 chromosome 20 open reading frame 133 C20orf133 NA Standard NM_080676 NM_080676 NA Approved dJ631M13.5 uc002wot.3 A1Z1Q3 OTTHUMG00000031919 ENST00000217246.4:c.*303T>C chr20.hg19:g.16030824T>C NA A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71 hg19 CCDS13120.2 0.02 6.747103 TGAxTGA COVERED NOVEL MACROD2-010 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195553.3 3 3.009504 KEEP 0 0 0 10 328 TT 0.992708 0.992708 0 + 45 60 1532 0 0 131.607477 128 60 4282 235 ENST00000217246.4 0.260116 1 RRBP1 6238 __UNKNOWN__ __UNKNOWN__ 20 17639804 17639804 __UNKNOWN__ Intron SNP T T C rs375708430 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:17639804T>C ENST00000360807.4 - 3 817 RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377813.1_Missense_Mutation_p.K450R|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.K450R NM_004587.2 NP_004578 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 NA NA osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CTCGGCCTTCTTGCCCTGGTT 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037819 CCDS13128.1 20p12 2012-12-07 2012-12-07 ENSG00000125844 ENSG00000125844 6238 10448 protein-coding gene gene with protein product 601418 ribosome binding protein 1 (dog 180kD homolog), ribosome binding protein 1 homolog 180kDa (dog) NA 8812507 Standard NM_001042576 NM_001042576 NA Approved ES/130, hES uc002wpw.1 Q9P2E9 OTTHUMG00000031945 ENST00000360807.4:c.529-470A>G chr20.hg19:g.17639804T>C NA A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476 hg19 CCDS13128.1 0.02 15.098452 TTCxTGC COVERED . . . . . . . . . . T 14.87 2.663798 0.47572 . . ENSG00000125844 ENST00000377813;ENST00000246043 T;T 0.57907 0.37;0.37 4.75 1.01 0.19927 . 0.204964 0.24305 N 0.039685 T 0.45256 0.1333 . . . 0.09310 N 1 . . . . . . T 0.33189 -0.9878 7 0.35671 T 0.21 -24.6628 8.0916 0.30803 0.0:0.3461:0.0:0.6539 . . . . R 450 ENSP00000367044:K450R;ENSP00000246043:K450R ENSP00000246043:K450R K - 2 0 RRBP1 17587804 0.000000 0.05858 0.004000 0.12327 0.002000 0.02628 -1.465000 0.02357 0.036000 0.15547 -0.375000 0.07067 AAG NOVEL RRBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078124.4 3 4.119762 KEEP 38 6 204 85 2638 TT 1 1 0 - 14 54 434 0 0 24.668517 338 60 11854 882 ENST00000360807.4 0.039773 1 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20445795 20445795 __UNKNOWN__ Intron SNP A A T rs557026555|rs6082007 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:20445795A>T ENST00000202677.7 - 37 5503 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GCAGGCCTTcacacacacaca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product NA chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.5495+7677T>A chr20.hg19:g.20445795A>T NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 -0.306984 TTCxCAC COVERED NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 1 4.212124 KEEP 2 0 0 14 418 AA 0.994391 0.795757 0 - 3 60 111 0 0 8.29686 27 60 915 51 ENST00000202677.7 0.1 0.800245 CD93 22918 __UNKNOWN__ __UNKNOWN__ 20 23063207 23063207 __UNKNOWN__ 3'UTR SNP A A T rs6048536 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:23063207A>T ENST00000246006.4 - 0 3486 NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule NA NA macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032) cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) tgtgtgtgtgagagagagaga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U94333 CCDS13149.1 20p11.21 2009-01-29 2006-03-28 2006-02-22 ENSG00000125810 ENSG00000125810 22918 CD molecules 15855 protein-coding gene gene with protein product 120577 matrix-remodelling associated 4, complement component 1, q subcomponent, receptor 1, CD93 antigen MXRA4, C1QR1 NA 9047234, 10648005 Standard NM_012072 NM_012072 NA Approved C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3 uc002wsv.3 Q9NPY3 OTTHUMG00000032058 ENST00000246006.4:c.*1380T>A chr20.hg19:g.23063207A>T NA O00274 hg19 CCDS13149.1 0.02 3.712226 GTGxGAG COVERED NOVEL CD93-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078312.2 4 2.874367 KEEP 0 2 55 29 879 AA 0.999997 0.999997 0 - 8 60 273 0 0 18.274676 115 60 3849 190 ENST00000246006.4 0.065041 1 CST4 1472 __UNKNOWN__ __UNKNOWN__ 20 23667937 23667937 __UNKNOWN__ Intron SNP G G T rs368674144 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:23667937G>T ENST00000217423.3 - 2 299 NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S NA NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) cysteine-type endopeptidase inhibitor activity (GO:0004869) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TTGCTTGGGGGCTTCGTGAGC 0.567 NA NA .||| 6 0.00119808 0.0015 0.0014 5008 , , NA 17458 0 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13159.1 20p11.2 2008-04-15 ENSG00000101441 ENSG00000101441 1472 2476 protein-coding gene gene with protein product 123857 NA 1801729 Standard NM_001899 NM_001899 NA Approved uc002wto.1 P01036 OTTHUMG00000032083 ENST00000217423.3:c.229-99C>A chr20.hg19:g.23667937G>T NA Q9UBI5|Q9UCS9 hg19 CCDS13159.1 0.02 7.104641 GGGxCTT COVERED NOVEL CST4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078349.2 1 5.828644 KEEP 13 3 28 31 725 GG 0.999998 0.999998 0 - 38 60 490 0 0 17.505031 324 60 7679 476 ENST00000217423.3 0.104972 1 CST2 1470 __UNKNOWN__ __UNKNOWN__ 20 23806059 23806059 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:23806059G>T ENST00000304725.2 - 2 299 NM_001322.2 NP_001313.1 P09228 CYTT_HUMAN cystatin SA NA NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951) extracellular space (GO:0005615) cysteine-type endopeptidase inhibitor activity (GO:0004869) breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 10 TTGCTTGGGGGCTTCGTGAGC 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(193;496 3017 22514 29918) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M19671 CCDS13161.1 20p11.2 2007-11-29 ENSG00000170369 ENSG00000170369 1470 2474 protein-coding gene gene with protein product cystatin 2 123856 NA Standard NM_001322 NA Approved uc002wtq.1 P09228 OTTHUMG00000032086 ENST00000304725.2:c.229-99C>A chr20.hg19:g.23806059G>T NA Q9UCQ7 hg19 CCDS13161.1 0.02 2.021826 GGGxCTT COVERED NOVEL CST2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078352.2 0 3.267479 KEEP 2 0 0 11 272 GG 0.993072 0.993072 0 - 19 60 256 0 0 9.848941 158 60 3841 215 ENST00000304725.2 0.107345 1 FAM182B 728882 __UNKNOWN__ __UNKNOWN__ 20 25745537 25745537 __UNKNOWN__ 5'UTR SNP G G A rs75376255 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:25745537G>A ENST00000478164.1 - 0 745 FAM182B_ENST00000376404.2_3'UTR Q5T319 F182B_HUMAN family with sequence similarity 182, member B NA NA lung(1) 1 CACCATGTCCGTCAGATGGAT 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant 20p11.1 2010-07-14 ENSG00000175170 ENSG00000175170 728882 34503 pseudogene pseudogene NA NA Standard NR_026714 NR_027061 NA Approved Q5T319 OTTHUMG00000032136 ENST00000478164.1:c.-247C>T chr20.hg19:g.25745537G>A NA Q4G0Q1 hg19 0.02 9.863783 TCCxTCA COVERED NOVEL FAM182B-005 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000316665.1 1 5.715882 KEEP 30 0 0 19 575 GG 0.99986 0.99986 0 - 23 47 795 0 0 56.738367 237 60 7195 322 ENST00000478164.1 0.088462 1 FAM182B 728882 __UNKNOWN__ __UNKNOWN__ 20 25752566 25752566 __UNKNOWN__ Intron SNP C C G rs112596515 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:25752566C>G ENST00000478164.1 - 3 645 FAM182B_ENST00000376404.2_Intron Q5T319 F182B_HUMAN family with sequence similarity 182, member B NA NA lung(1) 1 TAGTGGAATTCCTAGTCAGCA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20p11.1 2010-07-14 ENSG00000175170 ENSG00000175170 728882 34503 pseudogene pseudogene NA NA Standard NR_026714 NR_027061 NA Approved Q5T319 OTTHUMG00000032136 ENST00000478164.1:c.347+3179G>C chr20.hg19:g.25752566C>G NA Q4G0Q1 hg19 0.02 6.464125 ATTxCTA COVERED NOVEL FAM182B-005 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000316665.1 0 2.241079 KEEP 1 1 33 19 628 CC 0.999863 0.999863 0 - 6 49 222 0 0 14.217925 139 60 4886 234 ENST00000478164.1 0.041379 1 FAM182B 728882 __UNKNOWN__ __UNKNOWN__ 20 25752574 25752574 __UNKNOWN__ Intron SNP G G C rs143105683 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:25752574G>C ENST00000478164.1 - 3 645 FAM182B_ENST00000376404.2_Intron Q5T319 F182B_HUMAN family with sequence similarity 182, member B NA NA lung(1) 1 TTCCTAGTCAGCAACTGAACA 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20p11.1 2010-07-14 ENSG00000175170 ENSG00000175170 728882 34503 pseudogene pseudogene NA NA Standard NR_026714 NR_027061 NA Approved Q5T319 OTTHUMG00000032136 ENST00000478164.1:c.347+3171C>G chr20.hg19:g.25752574G>C NA Q4G0Q1 hg19 0.02 6.241178 TCAxCAA COVERED NOVEL FAM182B-005 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000316665.1 0 2.626644 KEEP 1 1 35 21 705 GG 0.999879 0.999879 0 - 6 49 219 0 0 13.723703 150 60 5429 256 ENST00000478164.1 0.038462 1 FAM182B 728882 __UNKNOWN__ __UNKNOWN__ 20 25753792 25753792 __UNKNOWN__ Intron SNP T T C rs374321743 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:25753792T>C ENST00000478164.1 - 3 645 FAM182B_ENST00000376404.2_Intron Q5T319 F182B_HUMAN family with sequence similarity 182, member B NA NA lung(1) 1 ATATTAAACATCAAGTCTCAG 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20p11.1 2010-07-14 ENSG00000175170 ENSG00000175170 728882 34503 pseudogene pseudogene NA NA Standard NR_026714 NR_027061 NA Approved Q5T319 OTTHUMG00000032136 ENST00000478164.1:c.347+1953A>G chr20.hg19:g.25753792T>C NA Q4G0Q1 hg19 0.02 17.560368 ACAxCAA COVERED NOVEL FAM182B-005 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000316665.1 1 5.150103 KEEP 46 1 34 29 895 TT 0.999997 0.999997 0 - 14 40 497 0 0 31.38449 308 60 10523 572 ENST00000478164.1 0.043478 1 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26061861 26061861 __UNKNOWN__ RNA SNP G G T rs375533025 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:26061861G>T ENST00000376398.2 + 0 881 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 ACGTGGAGGAGGAGGAACACG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 31 24 26 NA NA NA 20 NA NA 26061861 692 1582 2274 AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown NA chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26061861G>T NA A2RRD0|Q8N947 hg19 0.02 3.853941 GGAxGAG COVERED . . . . . . . . . . N 6.149 0.395676 0.11638 . . ENSG00000125804 ENST00000376398;ENST00000246000;ENST00000415411 . . . 0.546 0.546 0.17196 . . . . . T 0.40815 0.1132 . . . 0.09310 N 1 . . . . . . T 0.39663 -0.9603 4 0.87932 D 0 . . . . . . . . D 71;71;12 . ENSP00000246000:E71D E + 3 2 FAM182A 26009861 0.860000 0.29831 0.067000 0.19924 0.258000 0.26162 0.025000 0.13577 0.587000 0.29643 0.123000 0.15791 GAG NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 1 3.310796 KEEP 14 0 0 11 385 GG 0.992708 0.992707 0 + 11 40 370 0 0 28.038293 74 60 2667 183 ENST00000376398.2 0.129412 1 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26063805 26063805 __UNKNOWN__ RNA SNP A A G rs78113344 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:26063805A>G ENST00000376398.2 + 0 1322 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 TGCACCTGAGACCTGATGTCT 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown NA chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26063805A>G NA A2RRD0|Q8N947 hg19 0.02 4.352547 GAGxCCT COVERED NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 1 3.912199 KEEP 14 0 0 13 419 AA 0.993634 0.993633 0 + 11 27 388 0 0 28.25727 105 60 3556 196 ENST00000376398.2 0.094828 1 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26063993 26063993 __UNKNOWN__ RNA SNP A A G rs202066058 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:26063993A>G ENST00000376398.2 + 0 1510 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 CTGAGACTTGATGTTTAATAT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown NA chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26063993A>G NA A2RRD0|Q8N947 hg19 0.02 8.575758 TTGxTGT COVERED NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 17 3.044454 KEEP 34 1 34 22 703 AA 0.999863 0.999863 0 + 22 49 787 0 0 65.29805 88 60 2995 425 ENST00000376398.2 0.2 1 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26064021 26064021 __UNKNOWN__ RNA SNP G G T rs76817215 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:26064021G>T ENST00000376398.2 + 0 1538 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 AGTTCTTTTGGGGCCTGTTGT 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown NA chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26064021G>T NA A2RRD0|Q8N947 hg19 0.02 7.86055 TTGxGGC COVERED NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 20 4.047728 KEEP 37 1 30 24 840 GG 0.999879 0.999879 0 + 20 49 677 0 0 53.860633 99 60 3480 444 ENST00000376398.2 0.168067 1 NCOR1P1 149934 __UNKNOWN__ __UNKNOWN__ 20 26094501 26094501 __UNKNOWN__ RNA SNP T T C rs76641988 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:26094501T>C ENST00000478176.1 - 0 150 NR_003678.1 Q9H4R4 CT191_HUMAN nuclear receptor corepressor 1 pseudogene 1 NA NA NA ATTTGCATAGTATTTGTTCCT 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 339 247 275 NA NA NA 20 NA NA 26094501 692 1591 2283 AL391119 20p11.1 2011-09-16 2011-09-16 2011-09-16 ENSG00000240108 ENSG00000240108 149934 16724 pseudogene pseudogene NA chromosome 20 open reading frame 191 C20orf191 NA Standard NR_003678 NA Approved bB329D4.2 uc002wvj.5 Q9H4R4 OTTHUMG00000032145 ENST00000478176.1: chr20.hg19:g.26094501T>C NA A2RUA0 hg19 0.02 37.324487 TAGxATT COVERED NOVEL NCOR1P1-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000078478.2 9 6.046086 KEEP 11 4 131 66 1894 TT 1 1 0 - 58 60 2092 0 1 145.977302 760 60 24878 1093 ENST00000478176.1 0.070905 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 26108024 26108024 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:26108024G>A NA NA NCOR1P1 (13360 upstream) : RP13-329D4.3 (5498 downstream) NA NA NA ccagtttcaagtgattctcct 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.26108024G>A NA hg19 0.02 -0.122827 CAAxTGA COVERED NOVEL 0 3 2.407749 KEEP 0 0 0 8 276 GG 0.99257 0.194853 0 4 60 138 0 0 12.576908 7 60 271 26 0.363636 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 26211059 26211059 __UNKNOWN__ IGR SNP C C T rs201531362 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:26211059C>T NA NA MIR663A (22145 upstream) : None (None downstream) NA NA NA CATTACAATACCCTGTAACAA 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.26211059C>T NA hg19 0.02 19.561506 ATAxCCT COVERED NOVEL 0 10 7.254612 KEEP 2 1 28 34 1131 CC 0.999999 0.999999 0 25 60 868 0 0 56.227651 450 60 15807 595 0.052632 1 RP4-610C12.1 0 __UNKNOWN__ __UNKNOWN__ 20 29584387 29584387 __UNKNOWN__ RNA SNP T T C rs377123619 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29584387T>C ENST00000432067.1 - 0 288 NA NA NA acctagctactgtggaggctg 0.483 NA NA .||| 195 0.0389377 0.0174 0.0764 5008 , , NA 29112 0 NA 0.0964 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000432067.1: chr20.hg19:g.29584387T>C NA hg19 0.02 -0.201773 TACxGTG COVERED NOVEL RP4-610C12.1-002 KNOWN basic antisense NA antisense OTTHUMT00000078489.3 9 3.91142 KEEP 4 0 0 13 398 TT 0.992708 0.486967 0 - 3 46 96 0 0 8.232185 8 60 276 49 ENST00000432067.1 0.272727 0.490544 RP4-610C12.1 0 __UNKNOWN__ __UNKNOWN__ 20 29586471 29586471 __UNKNOWN__ RNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29586471C>T ENST00000432067.1 - 0 152 NA NA NA tggcctcctgccttggcttcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000432067.1: chr20.hg19:g.29586471C>T NA hg19 0.02 1.845222 CTGxCTT COVERED NOVEL RP4-610C12.1-002 KNOWN basic antisense NA antisense OTTHUMT00000078489.3 8 6.017442 KEEP 3 0 0 20 694 CC 0.999863 0.990828 0 - 4 60 138 0 0 10.11208 35 60 1234 112 ENST00000432067.1 0.102564 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29600672 29600672 __UNKNOWN__ IGR SNP T T C rs73614712 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29600672T>C NA NA RP4-610C12.1 (4266 upstream) : FRG1B (11184 downstream) NA NA NA aggccaggagttcaagattag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29600672T>C NA hg19 0.02 -0.175461 GAGxTCA COVERED NOVEL 0 5 3.008338 KEEP 3 0 0 10 294 TT 0.99254 0.384517 0 2 53 76 0 0 6.381158 8 60 281 36 0.2 0.387407 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29625613 29625613 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29625613G>A ENST00000278882.3 + 5 496 FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000439954.2_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 taaattttttgtaaagatggg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.117-260G>A chr20.hg19:g.29625613G>A NA C4AME5 hg19 0.02 3.49312 TTTxTAA UNCOVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 17 5.954877 KEEP 35 1 17 26 909 GG 0 0 0 + 6 49 200 0 0 13.680398 72 60 2562 167 ENST00000278882.3 0.076923 0.999968 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29625711 29625711 __UNKNOWN__ Intron SNP T T C rs4010946 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29625711T>C ENST00000278882.3 + 5 496 FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000439954.2_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 gttacaggagtgagtcaccac 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.117-162T>C chr20.hg19:g.29625711T>C NA C4AME5 hg19 0.02 15.210994 GAGxGAG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 9 3.040049 KEEP 32 1 37 23 638 TT 0.997832 0.997832 0 + 15 60 526 0 0 40.071135 106 60 3354 417 ENST00000278882.3 0.123967 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29625732 29625732 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29625732G>A ENST00000278882.3 + 5 496 FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000439954.2_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 tcagccacatgcatcttttga 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.117-141G>A chr20.hg19:g.29625732G>A NA C4AME5 hg19 0.02 18.481607 CATxCAT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 6 3.87836 KEEP 34 2 54 32 1040 GG 0.999997 0.999997 0 + 18 40 562 0 0 36.740678 238 60 8544 598 ENST00000278882.3 0.070312 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29625971 29625971 __UNKNOWN__ Missense_Mutation SNP C C A rs145033899 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 72 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.215C>A chr20.hg19:g.29625971C>A ENSP00000278882:p.Pro72Gln NA C4AME5 hg19 0.02 33.526164 AACxAGT COVERED . . . . . . . . . . c 12.14 1.847531 0.32606 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.49720 0.77 1.68 1.68 0.24146 . 0.112402 0.64402 D 0.000009 T 0.63271 0.2497 . . . 0.49483 D 0.999795 D 0.63046 0.992 D 0.79784 0.993 T 0.65948 -0.6044 9 0.66056 D 0.02 . 9.3557 0.38164 0.0:1.0:0.0:0.0 . 77 F5H5R5 . Q 72;77;72 ENSP00000408863:P77Q ENSP00000278882:P72Q P + 2 0 FRG1B 28239632 1.000000 0.71417 1.000000 0.80357 0.229000 0.25112 6.442000 0.73443 1.250000 0.43966 0.184000 0.17185 CCA NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 4 32.428292 KEEP 44 4 114 148 5079 CC 1 1 0 + 31 54 1084 0 0 72.453982 484 60 17699 1047 ENST00000278882.3 0.060194 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628251 29628251 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 85 NA p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) kidney(2) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.253A>G chr20.hg19:g.29628251A>G ENSP00000278882:p.Asn85Asp NA C4AME5 hg19 0.02 37.506581 TCAxATA COVERED . . . . . . . . . . a 15.78 2.933773 0.52866 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.50277 0.75 2.08 2.08 0.27032 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.46619 0.1402 . . . 0.45390 D 0.998378 B;B 0.26809 0.086;0.16 B;B 0.40329 0.326;0.253 T 0.51553 -0.8691 9 0.66056 D 0.02 . 8.0833 0.30758 1.0:0.0:0.0:0.0 . 90;85 F5H5R5;Q9BZ01 .;FRG1B_HUMAN D 85;90;85 ENSP00000408863:N90D ENSP00000278882:N85D N + 1 0 FRG1B 28241912 1.000000 0.71417 1.000000 0.80357 0.799000 0.45148 8.047000 0.89440 1.208000 0.43306 0.347000 0.21830 AAT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 16 55.237852 KEEP 59 8 276 280 8818 AA 1 1 0 + 33 60 1202 0 0 79.477731 614 60 21534 1448 ENST00000278882.3 0.051005 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628261 29628261 __UNKNOWN__ Missense_Mutation SNP T T C rs111331725 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29628261T>C ENST00000278882.3 + 6 643 c.263T>C c.(262-264)tTt>tCt p.F88S FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 88 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGCTGCTTTATTAGATGC 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.263T>C chr20.hg19:g.29628261T>C ENSP00000278882:p.Phe88Ser NA C4AME5 hg19 0.02 36.506215 GCTxTAT COVERED . . . . . . . . . . t 18.59 3.656788 0.67586 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.66995 -0.24 2.08 2.08 0.27032 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.78071 0.4226 . . . 0.58432 D 0.999995 D;D 0.89917 0.999;1.0 D;D 0.97110 0.998;1.0 T 0.78585 -0.2147 9 0.87932 D 0 . 8.0833 0.30758 0.0:0.0:0.0:1.0 . 93;88 F5H5R5;Q9BZ01 .;FRG1B_HUMAN S 88;93;88 ENSP00000408863:F93S ENSP00000278882:F88S F + 2 0 FRG1B 28241922 1.000000 0.71417 1.000000 0.80357 0.930000 0.56654 6.955000 0.76007 1.208000 0.43306 0.347000 0.21830 TTT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 11 39.797567 KEEP 76 11 383 266 8493 TT 1 1 0 + 28 60 980 1 0 62.89914 559 60 19591 1426 ENST00000278882.3 0.0477 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628263 29628263 __UNKNOWN__ Missense_Mutation SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 89 NA p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) prostate(2)|kidney(2) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.265A>G chr20.hg19:g.29628263A>G ENSP00000278882:p.Ile89Val NA C4AME5 hg19 0.02 38.801941 TTTxTTA COVERED . . . . . . . . . . a 8.196 0.797144 0.16327 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.44482 0.92 2.08 2.08 0.27032 Actin cross-linking (1); 0.052017 0.85682 D 0.000000 T 0.22666 0.0547 . . . 0.33862 D 0.633895 B;B 0.06786 0.0;0.001 B;B 0.20767 0.018;0.031 T 0.12041 -1.0563 9 0.22706 T 0.39 . 3.8663 0.09018 0.8139:0.0:0.1861:0.0 . 94;89 F5H5R5;Q9BZ01 .;FRG1B_HUMAN V 89;94;89 ENSP00000408863:I94V ENSP00000278882:I89V I + 1 0 FRG1B 28241924 1.000000 0.71417 1.000000 0.80357 0.948000 0.59901 4.345000 0.59360 1.208000 0.43306 0.347000 0.21830 ATT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 11 16.230061 KEEP 77 17 575 255 7725 AA 1 1 0 + 36 60 1350 1 0 93.406244 551 60 18847 1417 ENST00000278882.3 0.061329 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628498 29628498 __UNKNOWN__ Intron SNP A A C rs62199578 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29628498A>C ENST00000278882.3 + 6 713 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CCCATAGTTGATGGCTTGTTT 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.333+167A>C chr20.hg19:g.29628498A>C NA C4AME5 hg19 0.02 10.915739 TTGxTGG UNCOVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 6 2.40479 KEEP 13 0 0 8 212 AA 0 0 0 + 31 60 1144 0 0 90.412361 188 60 6498 328 ENST00000278882.3 0.141553 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632643 29632643 __UNKNOWN__ Missense_Mutation SNP T T C rs143379667 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29632643T>C ENST00000278882.3 + 8 838 c.458T>C c.(457-459)cTt>cCt p.L153P FRG1B_ENST00000358464.4_Missense_Mutation_p.L153P Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 153 NA p.L153P(10) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GACCACAAACTTAAAATAAGT 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10 Substitution - Missense(10) endometrium(6)|kidney(4) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.458T>C chr20.hg19:g.29632643T>C ENSP00000278882:p.Leu153Pro NA C4AME5 hg19 0.02 36.335381 AACxTAA COVERED . . . . . . . . . . t 12.77 2.038665 0.35989 . . ENSG00000149531 ENST00000278882;ENST00000358464 . . . 1.44 1.44 0.22558 . 0.000000 0.64402 U 0.000001 T 0.50463 0.1617 . . . 0.80722 D 1 P 0.35033 0.481 B 0.40038 0.317 T 0.53187 -0.8474 8 0.87932 D 0 . 6.9831 0.24713 0.0:0.0:0.0:1.0 . 153 Q9BZ01 FRG1B_HUMAN P 153 . ENSP00000278882:L153P L + 2 0 FRG1B 28246304 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 6.723000 0.74742 0.925000 0.37094 0.327000 0.21459 CTT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 23 46.512561 KEEP 119 11 385 289 9219 TT 1 1 0 + 63 60 2254 0 0 169.582098 506 70 17973 1468 ENST00000278882.3 0.110721 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632664 29632664 __UNKNOWN__ Missense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29632664G>T ENST00000278882.3 + 8 859 c.479G>T c.(478-480)aGt>aTt p.S160I FRG1B_ENST00000358464.4_Missense_Mutation_p.S160I Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 160 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAAGAAGAGAGTAAAATTCTT 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.479G>T chr20.hg19:g.29632664G>T ENSP00000278882:p.Ser160Ile NA C4AME5 hg19 0.02 34.466171 AGAxTAA COVERED . . . . . . . . . . g 2.920 -0.223331 0.06061 . . ENSG00000149531 ENST00000278882;ENST00000358464 . . . 1.44 -0.673 0.11373 . 0.629622 0.15865 U 0.240820 T 0.16642 0.0400 . . . 0.09310 N 1 B 0.23249 0.082 B 0.24701 0.055 T 0.17592 -1.0364 8 0.19590 T 0.45 . 1.8931 0.03252 0.3573:0.0:0.373:0.2698 . 160 Q9BZ01 FRG1B_HUMAN I 160 . ENSP00000278882:S160I S + 2 0 FRG1B 28246325 0.994000 0.37717 0.981000 0.43875 0.941000 0.58515 1.335000 0.33839 -0.171000 0.10797 -0.551000 0.04211 AGT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 20 37.324272 KEEP 87 15 487 295 10281 GG 1 1 0 + 22 60 765 0 0 46.897347 529 70 19401 1450 ENST00000278882.3 0.039927 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632772 29632772 __UNKNOWN__ Intron SNP G G A rs113430333 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29632772G>A ENST00000278882.3 + 8 916 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGAAATGGCATGTAGAAA 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.536+51G>A chr20.hg19:g.29632772G>A NA C4AME5 hg19 0.02 32.152633 ATGxCAT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 4 11.096838 KEEP 6 2 51 55 1818 GG 1 1 0 + 44 60 1443 0 0 101.731733 430 70 15153 945 ENST00000278882.3 0.092827 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633894 29633894 __UNKNOWN__ Intron SNP C C A rs76245589 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29633894C>A ENST00000278882.3 + 9 916 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTGTTTAAACAAGAGAACCA 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.537-4C>A chr20.hg19:g.29633894C>A NA C4AME5 hg19 0.02 37.384064 AAAxAAG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 7 4.590793 KEEP 23 8 250 103 3466 CC 1 1 0 + 52 60 1828 0 0 134.550154 461 60 16580 1133 ENST00000278882.3 0.101365 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633945 29633945 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29633945G>A ENST00000278882.3 + 0 964 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGGAATTTTTGTTTCTGCCTT 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*35G>A chr20.hg19:g.29633945G>A NA C4AME5 hg19 0.02 33.005589 TTTxTTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 6 26.835354 KEEP 30 9 278 187 6491 GG 1 1 0 + 49 60 1585 0 0 110.257421 500 60 17884 1270 ENST00000278882.3 0.089253 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633987 29633987 __UNKNOWN__ 3'UTR SNP T T A rs4006817 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29633987T>A ENST00000278882.3 + 0 1006 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CTGAATAAAATATTCAGAGGA 0.308 NA NA .||| 743 0.148363 0.0446 0.1657 5008 , , NA 33780 0.1984 NA 0.166 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*77T>A chr20.hg19:g.29633987T>A NA C4AME5 hg19 0.02 38.313094 AAAxATT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 12 13.476236 KEEP 24 16 487 216 6634 TT 1 1 0 + 51 60 1738 0 0 118.420766 666 70 22493 1322 ENST00000278882.3 0.07113 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633992 29633992 __UNKNOWN__ 3'UTR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29633992A>G ENST00000278882.3 + 0 1011 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAAATATTCAGAGGAAATGC 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*82A>G chr20.hg19:g.29633992A>G NA C4AME5 hg19 0.02 37.417047 TTCxGAG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 11 48.452306 KEEP 23 6 200 231 7196 AA 1 1 0 + 30 60 1013 0 0 60.965378 722 70 25594 1329 ENST00000278882.3 0.039894 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29634031 29634031 __UNKNOWN__ IGR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29634031A>C NA NA FRG1B (21 upstream) : AL441988.1 (3130 downstream) NA NA NA TTGTTGTGAAATTATTGTTTA 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29634031A>C NA hg19 0.02 36.144856 GAAxTTA COVERED NOVEL 0 12 34.137076 KEEP 13 7 260 204 6128 AA 1 1 0 24 49 892 0 0 54.210243 750 70 26301 1275 0.031008 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29634034 29634034 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29634034A>G NA NA FRG1B (24 upstream) : AL441988.1 (3127 downstream) NA NA NA TTGTGAAATTATTGTTTAGCT 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29634034A>G NA hg19 0.02 35.674221 ATTxTTG COVERED NOVEL 0 11 43.247586 KEEP 16 6 162 201 5909 AA 1 1 0 29 60 1016 0 0 62.378993 739 70 25699 1264 0.03776 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29634185 29634185 __UNKNOWN__ IGR SNP C C T rs144106076 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29634185C>T NA NA FRG1B (175 upstream) : AL441988.1 (2976 downstream) NA NA NA TCTGGATTTCCTGTCCTGAAG 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29634185C>T NA hg19 0.02 12.026678 TTCxTGT COVERED NOVEL 0 10 2.407437 KEEP 2 0 0 8 263 CC 0.99257 0.99257 0 14 59 467 0 0 31.003331 198 60 7158 349 0.066038 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29634186 29634186 __UNKNOWN__ IGR SNP T T G rs146504179 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29634186T>G NA NA FRG1B (176 upstream) : AL441988.1 (2975 downstream) NA NA NA CTGGATTTCCTGTCCTGAAGC 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29634186T>G NA hg19 0.02 13.224344 TCCxGTC COVERED NOVEL 0 11 2.406589 KEEP 2 0 0 8 233 TT 0.99257 0.99257 0 15 59 513 0 0 34.896967 199 60 6815 349 0.070093 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29636608 29636608 __UNKNOWN__ IGR SNP G G A rs77671637 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29636608G>A NA NA FRG1B (2598 upstream) : AL441988.1 (553 downstream) NA NA NA ggccaaggcaggagggtcact 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29636608G>A NA hg19 0.02 1.704295 GCAxGAG COVERED NOVEL 0 10 4.649615 KEEP 1 1 33 27 931 GG 0.999988 0.99898 0 5 60 169 0 0 14.666862 13 60 475 130 0.277778 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29636735 29636735 __UNKNOWN__ IGR SNP A A C rs62196402 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29636735A>C NA NA FRG1B (2725 upstream) : AL441988.1 (426 downstream) NA NA NA caatggcaaaacccgcaatta 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29636735A>C NA hg19 0.02 2.205388 AAAxCCC COVERED NOVEL 0 4 2.400472 KEEP 1 0 0 8 219 AA 0.99257 0.969607 0 3 60 97 0 0 8.832956 5 60 159 68 0.375 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29637808 29637808 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29637808T>C NA NA AL441988.1 (508 upstream) : DEFB115 (207658 downstream) NA NA NA CATAAATACTTTACAGAAAGG 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29637808T>C NA hg19 0.02 6.041281 ACTxTAC COVERED NOVEL 0 1 4.211502 KEEP 0 0 0 14 409 TT 0.995343 0.995343 0 9 60 322 0 0 21.963231 132 60 4567 222 0.06383 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29637851 29637851 __UNKNOWN__ IGR SNP C C G rs148007340 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29637851C>G NA NA AL441988.1 (551 upstream) : DEFB115 (207615 downstream) NA NA NA TCTTGGATTTCTTTCAACACC 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29637851C>G NA hg19 0.02 11.452552 TTTxTTT COVERED NOVEL 0 1 2.44195 KEEP 0 1 28 18 627 CC 0.99986 0.99986 0 14 60 539 0 0 40.464638 134 60 4833 342 0.094595 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29647427 29647427 __UNKNOWN__ IGR SNP G G A rs73610100 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29647427G>A NA NA AL441988.1 (10127 upstream) : DEFB115 (198039 downstream) NA NA NA atatccagtGGCAAAAAAATG 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29647427G>A NA hg19 0.02 -0.271949 GTGxCAA COVERED NOVEL 0 14 5.417428 KEEP 0 0 0 18 613 GT 0.999863 0.865627 0 3 60 97 0 1 7.533738 16 60 555 70 0.157895 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29647671 29647671 __UNKNOWN__ IGR SNP G G A rs143567383|rs60873516 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:29647671G>A NA NA AL441988.1 (10371 upstream) : DEFB115 (197795 downstream) NA NA NA agggagggacggaaggaagga 0.572 NA NA .||| 2014 0.402157 0.115 0.4712 5008 , , NA 12680 0.5536 NA 0.4304 False NA ,,, NA NA NA 2504 0.5562 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.29647671G>A NA hg19 0.02 -0.263159 GACxGAA COVERED NOVEL 0 24 4.815551 KEEP 5 0 0 16 552 GG 0.99649 0.691234 0 3 60 106 0 0 9.955183 4 60 143 51 0.428571 0.693668 ASXL1 171023 __UNKNOWN__ __UNKNOWN__ 20 31026687 31026687 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:31026687G>A ENST00000375687.4 + 0 6596 ASXL1_ENST00000306058.5_3'UTR NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like transcriptional regulator 1 NA NA bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 AGATGCCCCTGTGTGTGTTTT 0.423 NA NA F, N, Mis MDS, CMML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Rec yes 20 20q11.1 171023 additional sex combs like 1 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ438952 CCDS13201.1 20q11 2014-09-17 2014-06-17 ENSG00000171456 ENSG00000171456 171023 18318 protein-coding gene gene with protein product 612990 additional sex combs like 1 (Drosophila) NA 12657473 Standard NM_015338 NM_015338 NA Approved KIAA0978 uc002wxs.3 Q8IXJ9 OTTHUMG00000032218 ENST00000375687.4:c.*1546G>A chr20.hg19:g.31026687G>A NA B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4 hg19 CCDS13201.1 0.02 7.912394 CCTxTGT COVERED NOVEL ASXL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078624.2 1 5.415105 KEEP 0 0 0 18 593 GG 0.999859 0.999859 0 + 109 60 3647 0 0 353.454858 101 60 3667 260 ENST00000375687.4 0.519048 1 LINC00657 647979 __UNKNOWN__ __UNKNOWN__ 20 34638305 34638305 __UNKNOWN__ lincRNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:34638305C>T ENST00000565493.1 - 0 577 NR_027451.1 long intergenic non-protein coding RNA 657 NA NA NA CGCTCACCTTCCAGGCCCCTT 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AI619767, AK090641, BC011592 20q11.23 2012-10-12 ENSG00000260032 ENSG00000260032 647979 Long non-coding RNAs 44311 non-coding RNA RNA, long non-coding NA NA Standard NR_027451 NR_027451 NA Approved uc002xet.3 OTTHUMG00000175580 ENST00000565493.1: chr20.hg19:g.34638305C>T NA hg19 0.02 5.507746 CTTxCAG COVERED NOVEL LINC00657-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000430538.1 2 15.755198 KEEP 10 3 96 86 2954 CC 1 1 0 - 20 45 676 0 0 49.433736 169 60 6025 393 ENST00000565493.1 0.10582 1 RIMS4 140730 __UNKNOWN__ __UNKNOWN__ 20 43380559 43380559 __UNKNOWN__ 3'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:43380559C>G ENST00000372851.3 - 0 5092 NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 NA NA exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391) cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CCCTAAAGGCCTGGGCGGCTG 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13338.1, CCDS56191.1 20q13.12 2005-02-03 2003-06-18 2003-06-20 ENSG00000101098 ENSG00000101098 140730 16183 protein-coding gene gene with protein product 611601 chromosome 20 open reading frame 190 C20orf190 NA 12620390 Standard NM_182970 NM_182970 NA Approved dJ781B1.3 uc010ggu.3 Q9H426 OTTHUMG00000032546 ENST00000372851.3:c.*4216G>C chr20.hg19:g.43380559C>G NA A4FU94|E1P613|Q3MI44|Q5JWT7 hg19 CCDS13338.1 0.02 4.247451 GGCxTGG COVERED NOVEL RIMS4-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000101027.2 1 9.630745 KEEP 0 0 0 32 1133 CC 0.999997 0.999997 0 - 80 60 2679 0 0 264.51442 60 60 2147 217 ENST00000372851.3 0.571429 1 ZNF335 63925 __UNKNOWN__ __UNKNOWN__ 20 44598054 44598054 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:44598054A>G ENST00000322927.2 - 3 543 ZNF335_ENST00000426788.1_Intron NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 NA NA brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CGGACACTGCAGGAAAACCCC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 22 22 NA NA NA 20 NA NA 44598054 2203 4300 6503 SO:0001627 intron_variant AK026157 CCDS13389.1 20q13.12 2011-09-12 ENSG00000198026 ENSG00000198026 63925 Zinc fingers, C2H2-type 15807 protein-coding gene gene with protein product NRC-interacting factor 1 610827 NA 12215545, 19131338 Standard NM_022095 NM_022095 NA Approved bA465L10.2, NIF-1 uc002xqw.3 Q9H4Z2 OTTHUMG00000032637 ENST00000322927.2:c.442+35T>C chr20.hg19:g.44598054A>G NA B4DLG7|Q548D0|Q9H684 hg19 CCDS13389.1 0.02 1.889504 TGCxGGA COVERED NOVEL ZNF335-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079553.1 0 4.812963 KEEP 0 0 0 16 477 AA 0.997832 0.997694 0 - 30 60 931 0 0 82.532058 60 60 2082 118 ENST00000322927.2 0.333333 0.999862 SLC13A3 64849 __UNKNOWN__ __UNKNOWN__ 20 45188797 45188797 __UNKNOWN__ Missense_Mutation SNP A A T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:45188797A>T ENST00000279027.4 - 13 1691 c.1673T>A c.(1672-1674)cTg>cAg p.L558Q SLC13A3_ENST00000495082.1_Missense_Mutation_p.L511Q|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L476Q|SLC13A3_ENST00000435032.1_Missense_Mutation_p.L143Q|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L511Q|SLC13A3_ENST00000413164.2_Missense_Mutation_p.L508Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L476Q NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 558 NA transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) high-affinity sodium:dicarboxylate symporter activity (GO:0015362) breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CAAACTGAGCAGCAGGACACC 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 167 141 150 NA NA NA 20 NA NA 45188797 2203 4300 6503 SO:0001583 missense AF154121 CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1 20q13.12 2013-05-22 ENSG00000158296 ENSG00000158296 64849 Solute carriers 14430 protein-coding gene gene with protein product 606411 NA 10794676, 10992006 Standard NM_001011554 NA Approved NADC3, SDCT2 uc002xsf.2 Q8WWT9 OTTHUMG00000033042 ENST00000279027.4:c.1673T>A chr20.hg19:g.45188797A>T ENSP00000279027:p.Leu558Gln NA B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04 hg19 CCDS13400.1 0.02 11.173801 AGCxGCA COVERED . . . . . . . . . . A 18.78 3.697264 0.68386 . . ENSG00000158296 ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082 T;T;T;T;T;T;T 0.03441 3.93;3.93;3.93;3.93;3.93;3.93;3.93 4.74 4.74 0.60224 . 0.223038 0.39687 N 0.001287 T 0.19805 0.0476 M 0.86268 2.805 0.80722 D 1 D;D;D;D;D;D 0.63880 0.993;0.992;0.987;0.977;0.981;0.99 D;D;D;P;D;D 0.71184 0.972;0.951;0.922;0.898;0.938;0.938 T 0.00950 -1.1503 10 0.66056 D 0.02 -14.2978 14.3958 0.67010 1.0:0.0:0.0:0.0 . 508;143;476;511;460;558 B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9 .;.;.;.;.;S13A3_HUMAN Q 511;476;143;558;476;508;511 ENSP00000290317:L511Q;ENSP00000379648:L476Q;ENSP00000403394:L143Q;ENSP00000279027:L558Q;ENSP00000420177:L476Q;ENSP00000415852:L508Q;ENSP00000419621:L511Q ENSP00000279027:L558Q L - 2 0 SLC13A3 44622204 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 3.545000 0.53648 1.966000 0.57179 0.459000 0.35465 CTG NOVEL SLC13A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080329.2 0 15.32699 KEEP 0 0 0 51 1555 AA 1 1 0 - 155 60 5530 0 0 543.034014 126 60 4450 426 ENST00000279027.4 0.551601 1 SLC9A8 23315 __UNKNOWN__ __UNKNOWN__ 20 48429306 48429306 __UNKNOWN__ 5'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:48429306C>G ENST00000417961.1 + 0 57 NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 NA NA ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CTCCCACCCTCGGGCCACTGA 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB023156 CCDS13421.1, CCDS58774.1 20q13.13 2013-05-22 2012-03-22 ENSG00000197818 ENSG00000197818 23315 Solute carriers 20728 protein-coding gene gene with protein product 612730 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8, solute carrier family 9 (sodium/hydrogen exchanger), member 8 NA 12409279 Standard XM_030524 NM_001260491 NA Approved KIAA0939, NHE8 uc002xuv.2 Q9Y2E8 OTTHUMG00000032710 ENST00000417961.1:c.-154C>G chr20.hg19:g.48429306C>G NA B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507 hg19 CCDS58774.1 0.02 -0.201782 CCTxGGG COVERED NOVEL SLC9A8-201 KNOWN basic|CCDS protein_coding NA protein_coding 0 2.70827 KEEP 0 0 0 9 289 CC 0.99254 0.486885 0 + 9 60 329 0 0 30.508268 14 60 498 33 ENST00000417961.1 0.391304 0.490544 ZFP64 55734 __UNKNOWN__ __UNKNOWN__ 20 50721877 50721877 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:50721877T>G ENST00000361387.2 - 6 824 ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_5'UTR|ZFP64_ENST00000477786.1_Intron NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GGAACGCGCATGTCCCGGCAA 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001596 CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1 20q13.11-q13.13 2013-01-08 2012-11-27 ENSG00000020256 ENSG00000020256 55734 Zinc fingers, C2H2-type 15940 protein-coding gene gene with protein product NA zinc finger protein 338, zinc finger protein 64 homolog (mouse), zinc finger protein 64 ZNF338 NA 9034307 Standard NM_018197 NM_199427 NA Approved FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1 uc002xwl.3 Q9NPA5 OTTHUMG00000032756 ENST00000361387.2:c.764-6751A>C chr20.hg19:g.50721877T>G NA Q9NTS7|Q9NVH4 hg19 CCDS13439.1 0.02 32.474647 GCAxGTC COVERED NOVEL ZFP64-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079743.2 1 47.511497 KEEP 0 0 0 158 4738 TT 1 1 0 - 188 60 6751 1 0 583.235424 548 60 18577 1065 ENST00000361387.2 0.255435 1 ZFP64 55734 __UNKNOWN__ __UNKNOWN__ 20 50774752 50774752 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr20:50774752T>G ENST00000361387.2 - 5 824 ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371515.4_Intron|ZFP64_ENST00000216923.4_Intron|ZFP64_ENST00000477786.1_Intron NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 gtatattgggtgtatcatgac 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001596 CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1 20q13.11-q13.13 2013-01-08 2012-11-27 ENSG00000020256 ENSG00000020256 55734 Zinc fingers, C2H2-type 15940 protein-coding gene gene with protein product NA zinc finger protein 338, zinc finger protein 64 homolog (mouse), zinc finger protein 64 ZNF338 NA 9034307 Standard NM_018197 NM_199427 NA Approved FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1 uc002xwl.3 Q9NPA5 OTTHUMG00000032756 ENST00000361387.2:c.763+1909A>C chr20.hg19:g.50774752T>G NA Q9NTS7|Q9NVH4 hg19 CCDS13439.1 0.02 11.04465 GGGxGTA COVERED NOVEL ZFP64-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079743.2 1 10.527109 KEEP 0 0 0 35 1032 TT 0.999999 0.999999 0 - 71 60 2475 0 0 213.440241 202 60 6841 386 ENST00000361387.2 0.260073 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9426615 9426615 __UNKNOWN__ IGR SNP T T C rs371467614 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9426615T>C NA NA None (None upstream) : CR381670.1 (256575 downstream) NA NA NA aaaccccgtctctatgaaaaa 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9426615T>C NA hg19 0.02 -0.096503 GTCxCTA UNCOVERED NOVEL 0 4 2.707754 KEEP 0 0 0 9 272 TT 0.99254 0.119538 0 3 60 108 0 0 9.432235 8 60 280 25 0.272727 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9570039 9570039 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9570039C>A NA NA None (None upstream) : CR381670.1 (113151 downstream) NA NA NA Aggctgggcacggtggctcat 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9570039C>A NA hg19 0.02 -0.149047 GCAxGGT UNCOVERED NOVEL 0 3 2.407737 KEEP 1 0 0 8 275 CC 0 0 0 3 60 108 0 0 9.433881 8 60 251 33 0.272727 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9652391 9652391 __UNKNOWN__ IGR SNP T T A rs76272108 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9652391T>A NA NA None (None upstream) : CR381670.1 (30799 downstream) NA NA NA ctcacacatgtaatcccagca 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9652391T>A NA hg19 0.02 -0.087728 ATGxAAT UNCOVERED NOVEL 0 2 2.707176 KEEP 3 0 0 9 260 TT 0.99257 0.09898 0 3 49 101 0 0 9.232767 5 33 171 26 0.375 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9655144 9655144 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9655144C>T NA NA None (None upstream) : CR381670.1 (28046 downstream) NA NA NA aaactcctgacctcaagtgat 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9655144C>T NA hg19 0.02 -0.166685 TGAxCTC COVERED NOVEL 0 7 5.417717 KEEP 0 0 0 18 633 CC 0.99986 0.353897 0 5 60 174 0 0 16.245711 7 60 254 48 0.416667 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9655193 9655193 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9655193C>A NA NA None (None upstream) : CR381670.1 (27997 downstream) NA NA NA ggattgccgacgtgagccgct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9655193C>A NA hg19 0.02 -0.140343 CGAxGTG COVERED NOVEL 0 4 3.912556 KEEP 0 0 0 13 453 CC 0.994391 0.259501 0 3 47 105 0 0 8.881946 10 60 315 39 0.230769 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9699585 9699585 __UNKNOWN__ IGR SNP C C A rs369002782 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9699585C>A NA NA CR381670.1 (16313 upstream) : MIR3648 (126246 downstream) NA NA NA cagatttcagcgggagtcagc 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9699585C>A NA hg19 0.02 6.324778 CAGxGGG COVERED NOVEL 0 6 2.708603 KEEP 15 0 0 9 300 CC 0.99257 0.99257 0 12 49 423 0 0 33.356315 68 50 2293 279 0.15 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9712216 9712216 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9712216G>T NA NA CR381670.1 (28944 upstream) : MIR3648 (113615 downstream) NA NA NA gtccagtctggtctcaaaata 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9712216G>T NA hg19 0.02 -0.245589 CTGxTCT UNCOVERED NOVEL 0 6 4.21367 KEEP 14 0 0 14 486 GG 0 0 0 3 46 108 0 0 8.091887 25 60 857 66 0.107143 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9712278 9712278 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9712278G>A NA NA CR381670.1 (29006 upstream) : MIR3648 (113553 downstream) NA NA NA tgggattacaggtgtaagccc 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9712278G>A NA hg19 0.02 -0.201782 ACAxGTG UNCOVERED NOVEL 0 6 3.310625 KEEP 17 0 0 11 383 GG 0 0 0 3 46 109 0 0 8.52621 19 40 688 56 0.136364 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9712279 9712279 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9712279G>A NA NA CR381670.1 (29007 upstream) : MIR3648 (113552 downstream) NA NA NA gggattacaggtgtaagcccc 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9712279G>A NA hg19 0.02 -0.192986 CAGxTGT UNCOVERED NOVEL 0 5 2.708866 KEEP 17 0 0 9 319 GG 0 0 0 4 24 145 0 0 11.968356 17 46 591 52 0.190476 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9719725 9719725 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9719725G>A NA NA CR381670.1 (36453 upstream) : MIR3648 (106106 downstream) NA NA NA aactacttggggacatgagac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9719725G>A NA hg19 0.02 -0.254409 TGGxGAC COVERED NOVEL 0 4 3.310768 KEEP 13 0 0 11 383 GG 0.99257 0.663556 0 3 24 107 0 0 8.041765 24 40 842 72 0.111111 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825684 9825684 __UNKNOWN__ IGR SNP A A G rs377670437 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9825684A>G NA NA CR381670.1 (142412 upstream) : MIR3648 (147 downstream) NA NA NA GCCGCCGGCCACTGATCGGCC 0.786 NA NA .||| 751 0.14996 0.1899 0.1383 5008 , , NA 122756 0.0615 NA 0.1958 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9825684A>G NA hg19 0.02 21.244557 GCCxCTG COVERED NOVEL 0 25 6.011846 KEEP 0 0 0 20 531 AA 0.999863 0.999863 0 23 60 749 0 0 44.889658 525 60 16611 692 0.041971 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825769 9825769 __UNKNOWN__ IGR SNP C C A rs367745251 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9825769C>A NA NA CR381670.1 (142497 upstream) : MIR3648 (62 downstream) NA NA NA GTGGGCTTCCCGGAGGGTTCC 0.831 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9825769C>A NA hg19 0.02 13.625794 TCCxGGA COVERED NOVEL 0 3 7.221716 KEEP 0 0 0 24 773 CC 0.999909 0.999909 0 18 60 581 0 0 36.080346 331 60 10752 538 0.051576 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9858128 9858128 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9858128T>C NA NA MIR3687 (31865 upstream) : TEKT4P2 (49065 downstream) NA NA NA TTCCTCAGGATTCAAACTCAT 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9858128T>C NA hg19 0.02 13.535699 GGAxTCA COVERED NOVEL 0 1 2.830913 KEEP 0 1 33 21 648 TT 0.999879 0.999879 0 52 60 1865 0 0 148.241966 288 60 9897 457 0.152941 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9892716 9892716 __UNKNOWN__ IGR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9892716A>C NA NA MIR3687 (66453 upstream) : TEKT4P2 (14477 downstream) NA NA NA acatttttctacataacatca 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9892716A>C NA hg19 0.02 -0.368456 TCTxCAT COVERED NOVEL 0 7 3.610526 KEEP 0 0 0 12 359 AA 0.993634 0.893588 0 4 60 144 0 0 10.961029 30 60 1033 62 0.117647 0.899314 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9909103 9909103 __UNKNOWN__ RNA SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9909103G>A ENST00000416067.1 - 0 303 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA TCACAGCGGCGCCCGAAGGCC 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene NA MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9909103G>A NA hg19 0.02 11.698457 GGCxCCC COVERED . . . . . . . . . . . 5.537 0.283948 0.10458 . . ENSG00000227328 ENST00000416067 . . . 0.109 0.109 0.14578 . . . . . T 0.54175 0.1842 . . . . . . D 0.89917 1.0 D 0.63033 0.91 T 0.56329 -0.7997 5 . . . . 2.9432 0.05837 2.0E-4:2.0E-4:0.51:0.4896 . 78 B7WNX9 . C 78 . . R - 1 0 TEKT4P2 . 0.000000 0.05858 0.055000 0.19348 0.057000 0.15508 -0.116000 0.10724 0.181000 0.19994 0.184000 0.17185 CGC NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 3 10.734144 KEEP 0 1 32 47 1416 GG 1 1 0 - 60 60 1964 0 0 156.62277 276 60 8737 471 ENST00000416067.1 0.178571 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9916965 9916965 __UNKNOWN__ RNA SNP T T C rs372739600 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9916965T>C ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA gtcttgaacctctgacctcag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene NA MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9916965T>C NA hg19 0.02 -0.192981 ACCxCTG COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 5 2.407023 KEEP 0 0 0 8 244 TT 0.99257 0.454356 0 - 7 40 233 0 0 20.834402 14 60 475 37 ENST00000416067.1 0.333333 0.457757 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9921706 9921706 __UNKNOWN__ RNA SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9921706G>A ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA CTTCCAGGACGTGTGAGAGTT 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene NA MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9921706G>A NA hg19 0.02 -0.227977 GACxTGT UNCOVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 1 2.407391 KEEP 12 0 0 8 262 GG 0 0 0 - 5 27 175 0 0 14.881871 16 60 509 46 ENST00000416067.1 0.238095 0.612407 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9921958 9921958 __UNKNOWN__ RNA SNP G G A rs150732816 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9921958G>A ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA CAAGTGCAGGGCGGTGTAGCT 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene NA MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9921958G>A NA hg19 0.02 5.790149 AGGxCGG COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 2 3.310774 KEEP 21 0 0 11 385 GG 0.992708 0.992708 0 - 8 49 266 0 0 17.49148 118 60 4146 234 ENST00000416067.1 0.063492 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9989308 9989308 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:9989308C>A NA NA TEKT4P2 (20723 upstream) : CR381653.1 (210634 downstream) NA NA NA TGTGCTTTTTCtctcttcctc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9989308C>A NA hg19 0.02 -0.149126 TTTxTCT UNCOVERED NOVEL 0 3 3.009951 KEEP 18 0 0 10 365 CC 0 0 0 3 25 104 0 0 8.478576 13 50 467 47 0.1875 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10020096 10020096 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10020096G>A NA NA TEKT4P2 (51511 upstream) : CR381653.1 (179846 downstream) NA NA NA tagtagagatggggtttcacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10020096G>A NA hg19 0.02 -0.245629 GATxGGG COVERED NOVEL 0 7 3.078241 KEEP 9 2 59 31 1058 GG 0.999988 0.641339 0 3 29 95 0 0 7.007113 21 50 754 81 0.125 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10032154 10032154 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10032154G>A NA NA TEKT4P2 (63569 upstream) : CR381653.1 (167788 downstream) NA NA NA gacctcaaatgatctgcccgc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10032154G>A NA hg19 0.02 -0.05264 AATxATC UNCOVERED NOVEL 0 8 3.00928 KEEP 9 0 0 10 322 GG 0 0 0 3 27 107 0 0 10.325008 3 27 115 22 0.5 0.036766 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10085698 10085698 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10085698G>C NA NA TEKT4P2 (117113 upstream) : CR381653.1 (114244 downstream) NA NA NA gaaaggagtggaatggaatgg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10085698G>C NA hg19 0.02 4.34048 GTGxAAT COVERED NOVEL 0 73 8.471782 KEEP 22 4 122 71 2340 GG 1 0.999999 0 4 29 146 1 0 12.162474 16 60 576 250 0.2 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10101263 10101263 __UNKNOWN__ IGR SNP G G A rs368623326 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10101263G>A NA NA TEKT4P2 (132678 upstream) : CR381653.1 (98679 downstream) NA NA NA atgttgcccaggctggtcttg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10101263G>A NA hg19 0.02 -0.105278 CCAxGCT UNCOVERED NOVEL 0 4 2.708778 KEEP 10 0 0 9 315 GG 0 0 0 4 49 149 0 0 13.67714 7 25 249 36 0.363636 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10143205 10143205 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10143205C>T NA NA TEKT4P2 (174620 upstream) : CR381653.1 (56737 downstream) NA NA NA atAAAAAGCACAATCATCATT 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10143205C>T NA hg19 0.02 -0.41234 GCAxAAT COVERED NOVEL 0 6 6.293887 KEEP 9 0 0 21 697 CC 0.999366 0.941145 0 4 47 133 0 0 9.756225 32 50 1216 99 0.111111 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10143241 10143241 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10143241G>A NA NA TEKT4P2 (174656 upstream) : CR381653.1 (56701 downstream) NA NA NA ggctgggcgcggtggctcacg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10143241G>A NA hg19 0.02 -0.420538 CGCxGTG COVERED NOVEL 0 11 6.964402 KEEP 18 1 13 28 899 GG 0.999869 0.954366 0 4 49 131 0 0 9.665011 30 50 986 109 0.117647 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10145250 10145250 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10145250G>A NA NA TEKT4P2 (176665 upstream) : CR381653.1 (54692 downstream) NA NA NA ttacatgaatgagccactgca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10145250G>A NA hg19 0.02 -0.16669 AATxAGC COVERED NOVEL 0 8 5.417102 KEEP 4 0 0 18 605 GG 0.997832 0.353179 0 4 49 139 0 0 12.030767 11 60 404 48 0.266667 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10146696 10146696 __UNKNOWN__ IGR SNP C C T rs369796617 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10146696C>T NA NA TEKT4P2 (178111 upstream) : CR381653.1 (53246 downstream) NA NA NA aatcccaacactttggaaggc 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10146696C>T NA hg19 0.02 -0.342147 ACAxTTT COVERED NOVEL 0 5 2.396204 KEEP 3 1 31 19 616 CC 0.999859 0.88875 0 4 49 137 0 0 11.16829 17 60 608 79 0.190476 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10146752 10146752 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10146752A>G NA NA TEKT4P2 (178167 upstream) : CR381653.1 (53190 downstream) NA NA NA gaccagcctgatcaacatggt 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10146752A>G NA hg19 0.02 -0.307051 CTGxTCA COVERED NOVEL 0 18 8.423316 KEEP 14 0 0 28 843 AA 0.999859 0.800133 0 4 49 145 0 0 11.793736 19 60 665 81 0.173913 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10575785 10575785 __UNKNOWN__ IGR SNP T T A rs376816466 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10575785T>A NA NA SNORA70 (189738 upstream) : IGHV1OR21-1 (286836 downstream) NA NA NA ccgcctcccatgttcacgcta 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10575785T>A NA hg19 0.02 -0.061409 CCAxGTT UNCOVERED NOVEL 0 2 2.406783 KEEP 0 0 0 8 238 TT 0.99257 0.043461 0 4 60 142 0 0 14.031899 3 60 106 20 0.571429 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10622699 10622699 __UNKNOWN__ IGR SNP T T C rs74884712 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10622699T>C NA NA SNORA70 (236652 upstream) : IGHV1OR21-1 (239922 downstream) NA NA NA CGTAGGAGCATAGTAGATAGG 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10622699T>C NA hg19 0.02 6.912121 GCAxAGT COVERED NOVEL 0 0 3.610414 KEEP 0 0 0 12 359 TT 0.993634 0.993634 0 16 60 567 0 0 42.050284 138 60 4652 210 0.103896 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10622706 10622706 __UNKNOWN__ IGR SNP T T C rs75344949|rs71273035 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10622706T>C NA NA SNORA70 (236659 upstream) : IGHV1OR21-1 (239915 downstream) NA NA NA GCATAGTAGATAGGGAGGAGG 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10622706T>C NA hg19 0.02 4.303823 AGAxAGG COVERED NOVEL 0 0 3.008707 KEEP 0 0 0 10 303 TT 0.992708 0.992708 0 14 41 500 0 0 36.701128 131 60 4425 200 0.096552 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10820064 10820064 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10820064T>C NA NA SNORA70 (434017 upstream) : IGHV1OR21-1 (42557 downstream) NA NA NA tggaatggaatggaatggaat 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10820064T>C NA hg19 0.02 -0.263193 GAAxGGA COVERED NOVEL 0 39 2.340961 KEEP 38 1 32 19 579 TT 0.993072 0.734547 0 2 21 75 0 0 6.992818 3 37 107 111 0.4 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10831456 10831456 __UNKNOWN__ IGR SNP G G A rs28671483 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10831456G>A NA NA SNORA70 (445409 upstream) : IGHV1OR21-1 (31165 downstream) NA NA NA gaatggacccgaatggaatgg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10831456G>A NA hg19 0.02 1.716373 CCCxAAT COVERED NOVEL 0 132 5.231525 KEEP 65 1 33 29 940 GG 0.99649 0.996259 0 4 60 144 0 0 15.239979 1 9 15 180 0.8 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10839175 10839175 __UNKNOWN__ IGR SNP T T A rs28972061|rs60214102 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:10839175T>A NA NA SNORA70 (453128 upstream) : IGHV1OR21-1 (23446 downstream) NA NA NA tggaatggaatggaatggaat 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.10839175T>A NA hg19 0.02 -0.03509 GAAxGGA UNCOVERED NOVEL 0 9 2.706735 KEEP 7 0 0 9 266 TT 0 0 0 2 60 70 0 0 7.953968 0 0 0 24 1 0.019982 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11034360 11034360 __UNKNOWN__ RNA SNP G G T rs2537246 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11034360G>T ENST00000470054.1 - 0 1476 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTACTGCAggctgggcgtgg 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11034360G>T NA A8K925|Q08ER0 hg19 0.02 -0.270842 CAGxCTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 4.213418 KEEP 1 0 0 14 474 GG 0.994391 0.713292 0 - 6 60 195 0 0 15.856863 24 60 786 59 ENST00000470054.1 0.2 0.717315 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11034387 11034387 __UNKNOWN__ RNA SNP T T C rs2537247 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11034387T>C ENST00000470054.1 - 0 1476 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) acccctgtaatcccagcactt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11034387T>C NA A8K925|Q08ER0 hg19 0.02 -0.271957 TAAxCCC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 5.102323 KEEP 1 0 0 17 505 TT 0.997832 0.71576 0 - 6 60 207 0 0 17.043749 24 60 834 68 ENST00000470054.1 0.2 0.717315 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11038882 11038882 __UNKNOWN__ RNA SNP C C T rs12627085 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11038882C>T ENST00000470054.1 - 0 1321 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCATGTCATGCGAAGGCAAGT 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11038882C>T NA A8K925|Q08ER0 hg19 0.02 27.401257 ATGxGAA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 19.424618 KEEP 117 1 29 75 2382 CC 1 1 0 - 28 49 897 0 0 51.462537 708 60 23540 1104 ENST00000470054.1 0.038043 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11038909 11038909 __UNKNOWN__ RNA SNP G G T rs28473122 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11038909G>T ENST00000470054.1 - 0 1294 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAGGTGTTGGGGAGGAAGACA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11038909G>T NA A8K925|Q08ER0 hg19 0.02 34.481157 TGGxGAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 14.26315 KEEP 54 4 109 86 2832 GG 1 1 0 - 65 50 2114 0 0 142.367935 798 60 27415 1120 ENST00000470054.1 0.075319 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11039033 11039033 __UNKNOWN__ RNA SNP G G A rs28369127 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11039033G>A ENST00000470054.1 - 0 1170 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTCAATTGTAGGAGTCATTTC 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11039033G>A NA A8K925|Q08ER0 hg19 0.02 39.693327 GTAxGAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 6 9.262437 KEEP 17 7 223 109 3768 GG 1 1 0 - 86 51 3085 0 0 225.421324 836 50 30082 1170 ENST00000470054.1 0.093275 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11039302 11039302 __UNKNOWN__ RNA SNP A A G rs8130395 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11039302A>G ENST00000470054.1 - 0 901 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAACGACTTCAATGTTTTCTG 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11039302A>G NA A8K925|Q08ER0 hg19 0.02 37.51663 TTCxATG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 14.19335 KEEP 3 2 68 71 2030 AA 1 1 0 - 32 60 1146 0 0 69.624336 885 60 30699 1093 ENST00000470054.1 0.034896 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11039406 11039406 __UNKNOWN__ RNA SNP T T C rs8134740 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11039406T>C ENST00000470054.1 - 0 797 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCATTAGAAATCTGTTTTTCC 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11039406T>C NA A8K925|Q08ER0 hg19 0.02 26.315714 AAAxCTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 5.115126 KEEP 0 0 0 17 527 TT 0.999366 0.999366 0 - 70 60 2469 0 0 185.398649 550 60 18815 698 ENST00000470054.1 0.112903 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11043305 11043305 __UNKNOWN__ RNA SNP G G C rs462765 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11043305G>C ENST00000470054.1 - 0 774 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcctcccaaagtgctgggatt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11043305G>C NA A8K925|Q08ER0 hg19 0.02 -0.315809 AAAxTGC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 2 2.344518 KEEP 0 1 38 21 737 GG 0.999879 0.835615 0 - 3 60 100 0 0 7.109159 29 60 1051 80 ENST00000470054.1 0.09375 0.835716 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11047423 11047423 __UNKNOWN__ RNA SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11047423C>G ENST00000470054.1 - 0 774 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATAGATATCCGATTTGTCTG 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11047423C>G NA A8K925|Q08ER0 hg19 0.02 6.703827 ATCxGAT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 1 3.611526 KEEP 0 0 0 12 400 CC 0.993634 0.993634 0 - 13 60 426 0 0 29.458278 141 60 4811 215 ENST00000470054.1 0.084416 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11055981 11055981 __UNKNOWN__ RNA SNP C C T rs60614589 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11055981C>T ENST00000470054.1 - 0 487 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) atggtgtgcgcctgtaatccc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11055981C>T NA A8K925|Q08ER0 hg19 0.02 -0.280652 GCGxCTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 2.742368 KEEP 0 1 25 18 623 CC 0.99986 0.739568 0 - 3 60 97 0 0 8.478824 7 60 232 60 ENST00000470054.1 0.3 0.739671 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058085 11058085 __UNKNOWN__ RNA SNP C C A rs545963045|rs2838188 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11058085C>A ENST00000470054.1 - 0 487 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAATAACACTCAGGGAATTTA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058085C>A NA A8K925|Q08ER0 hg19 0.02 9.627771 ACTxAGG UNCOVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 2.708237 KEEP 31 0 0 9 285 CC 0 0 0 - 18 27 546 0 0 35.717557 220 60 7813 312 ENST00000470054.1 0.07563 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058248 11058248 __UNKNOWN__ RNA SNP G G A rs8130203 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11058248G>A ENST00000470054.1 - 0 399 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 80 67 71 NA NA NA 21 NA NA 11058248 692 1591 2283 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058248G>A NA A8K925|Q08ER0 hg19 0.02 33.337616 AAGxATA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 31.234304 KEEP 82 1 32 115 3889 GG 1 1 0 - 34 50 1210 0 0 75.972835 777 60 27507 1145 ENST00000470054.1 0.041924 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058386 11058386 __UNKNOWN__ RNA SNP G G A rs76314403 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11058386G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAAATATAAGCTGGGAAGGT 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058386G>A NA A8K925|Q08ER0 hg19 0.02 8.669951 TAAxCTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 0 6.620895 KEEP 13 0 0 22 735 GG 0.999879 0.999879 0 - 10 31 303 0 0 16.735618 282 60 9901 333 ENST00000470054.1 0.034247 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11059852 11059852 __UNKNOWN__ RNA SNP G G A rs7279599 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11059852G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ggacgtggtggcaggcacctg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11059852G>A NA A8K925|Q08ER0 hg19 0.02 7.4838 GTGxCAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 24 30.901498 KEEP 0 3 89 134 4615 GG 1 1 0 - 7 60 242 0 0 15.498399 132 60 4631 441 ENST00000470054.1 0.05036 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11065009 11065009 __UNKNOWN__ RNA SNP G G A rs2943942 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11065009G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cagcctgtgcgacagagcaag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11065009G>A NA A8K925|Q08ER0 hg19 0.02 -0.105264 TGCxACA UNCOVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 3.310455 KEEP 1 0 0 11 362 GG 0.992708 0.138812 0 - 3 58 101 0 0 8.878499 7 60 226 27 ENST00000470054.1 0.3 0.139832 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11066497 11066497 __UNKNOWN__ RNA SNP A A G rs71262562 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11066497A>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCTTGTTTACATAATGGTTTT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11066497A>G NA A8K925|Q08ER0 hg19 0.02 -0.175228 TACxTAA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 2.996638 KEEP 0 0 0 10 284 AA 0.992708 0.384582 0 - 4 60 131 0 0 10.871164 14 60 437 35 ENST00000470054.1 0.222222 0.387407 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11072265 11072265 __UNKNOWN__ RNA SNP C C A rs79190651 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11072265C>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gtaatcccagcactttgggag 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11072265C>A NA A8K925|Q08ER0 hg19 0.02 -0.210384 CAGxACT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 7 2.743762 KEEP 0 1 31 20 699 CC 0.999869 0.522093 0 - 3 49 105 0 0 8.127827 19 60 657 59 ENST00000470054.1 0.136364 0.522161 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11074894 11074894 __UNKNOWN__ RNA SNP C C G rs144290373 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11074894C>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cttggccaggctggtcttgag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11074894C>G NA A8K925|Q08ER0 hg19 0.02 -0.263182 AGGxTGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 4.212513 KEEP 0 0 0 14 465 CC 0.99649 0.691234 0 - 4 60 127 0 0 9.83632 21 60 755 56 ENST00000470054.1 0.16 0.693668 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11074959 11074959 __UNKNOWN__ RNA SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11074959C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ggattacaggcgtgaactact 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11074959C>T NA A8K925|Q08ER0 hg19 0.02 -0.385987 AGGxGTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 5.417007 KEEP 0 0 0 18 595 CC 0.999859 0.918042 0 - 3 60 106 0 0 7.708623 29 60 989 81 ENST00000470054.1 0.09375 0.918171 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11074965 11074965 __UNKNOWN__ RNA SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11074965C>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caggcgtgaactactgcgccc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11074965C>G NA A8K925|Q08ER0 hg19 0.02 -0.384933 GAAxTAC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 5.417207 KEEP 0 0 0 18 604 CC 0.999859 0.918042 0 - 3 60 115 0 0 8.613524 29 60 998 82 ENST00000470054.1 0.09375 0.918171 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11077203 11077203 __UNKNOWN__ RNA SNP G G A rs3908021 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11077203G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gaagcaagtagaggttggctc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11077203G>A NA A8K925|Q08ER0 hg19 0.02 -0.429864 GTAxAGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 0 2.407369 KEEP 0 0 0 8 259 GG 0.99257 0.9474 0 - 8 60 274 0 0 22.336606 34 60 1220 63 ENST00000470054.1 0.190476 0.954491 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080400 11080400 __UNKNOWN__ RNA SNP T T C rs9637238 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11080400T>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cactccagcctaggtgacaag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080400T>C NA A8K925|Q08ER0 hg19 0.02 -0.342098 GCCxAGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 4.212331 KEEP 0 0 0 14 427 TT 0.995343 0.861714 0 - 3 60 109 0 0 7.925977 31 60 1053 62 ENST00000470054.1 0.088235 0.865745 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11084916 11084916 __UNKNOWN__ RNA SNP G G C rs2986768 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11084916G>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ctctgtgtgtgtttgtgtgtg 0.443 NA NA g||| 2230 0.445288 0.3979 0.4669 5008 , , NA 106829 0.4544 NA 0.4702 False NA ,,, NA NA NA 2504 0.4591 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11084916G>C NA A8K925|Q08ER0 hg19 0.02 -0.3421 TGTxTTT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 3.910963 KEEP 0 0 0 13 441 GG 0.994391 0.860889 0 - 3 60 107 2 0 7.725974 31 60 1094 67 ENST00000470054.1 0.088235 0.865745 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11086922 11086922 __UNKNOWN__ RNA SNP C C T rs366231 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11086922C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctggccaacacagtga 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11086922C>T NA A8K925|Q08ER0 hg19 0.02 -0.306052 GGCxAAC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 6 7.211867 KEEP 1 0 0 24 754 CC 0.999909 0.800173 0 - 5 60 141 0 0 10.683467 25 60 889 70 ENST00000470054.1 0.166667 0.800245 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11088654 11088654 __UNKNOWN__ RNA SNP A A T rs363904 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11088654A>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tgcccggctaattttttgtat 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11088654A>T NA A8K925|Q08ER0 hg19 0.02 -0.140368 CTAxTTT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 3.001569 KEEP 2 0 0 10 298 AA 0.993072 0.259157 0 - 4 47 139 0 0 12.677014 7 60 248 34 ENST00000470054.1 0.363636 0.260965 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11096993 11096993 __UNKNOWN__ RNA SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11096993G>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tgccaagcatggtggtaggcg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11096993G>T NA A8K925|Q08ER0 hg19 0.02 -0.254413 CATxGTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 6 3.310207 KEEP 0 0 0 11 363 GG 0.993072 0.663892 0 - 3 60 98 0 0 7.092229 25 60 890 47 ENST00000470054.1 0.107143 0.668523 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11097330 11097330 __UNKNOWN__ RNA SNP G G A rs10439829 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11097330G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caggtggatcgcctgaggttg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11097330G>A NA A8K925|Q08ER0 hg19 0.02 -0.201719 ATCxCCT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 2.407597 KEEP 0 0 0 8 266 GG 0.99254 0.486885 0 - 3 42 96 0 0 7.293202 18 60 618 39 ENST00000470054.1 0.142857 0.490544 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11097608 11097608 __UNKNOWN__ RNA SNP C C T rs4913758 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11097608C>T ENST00000470054.1 - 0 261 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccttcatcagcctggcttgga 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 89 82 NA NA NA 21 NA NA 11097608 1450 2607 4057 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11097608C>T NA A8K925|Q08ER0 hg19 0.02 3.769091 CAGxCTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 6 3.009381 KEEP 1 0 0 10 327 CC 0.992708 0.992708 0 - 9 60 303 0 0 19.874113 139 60 4991 213 ENST00000470054.1 0.060811 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11100999 11100999 __UNKNOWN__ IGR SNP A A G rs11509394 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11100999A>G NA NA BAGE2 (2074 upstream) : AP003900.6 (68788 downstream) NA NA NA tctgccttccaaagtgctggg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11100999A>G NA hg19 0.02 -0.429867 TCCxAAG COVERED NOVEL 0 4 3.898728 KEEP 1 0 0 13 373 AA 0.993634 0.948414 0 4 60 132 0 0 9.656561 32 60 1133 77 0.111111 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11107189 11107189 __UNKNOWN__ IGR SNP G G T rs562482894 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11107189G>T NA NA BAGE2 (8264 upstream) : AP003900.6 (62598 downstream) NA NA NA gctaatttttgtatttttagt 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11107189G>T NA hg19 0.02 -0.342005 TTTxTAT COVERED NOVEL 0 4 3.009714 KEEP 0 0 0 10 345 GG 0.992708 0.859432 0 5 60 177 0 0 15.94051 10 60 343 53 0.333333 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11107795 11107795 __UNKNOWN__ IGR SNP G G C rs183663118 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11107795G>C NA NA BAGE2 (8870 upstream) : AP003900.6 (61992 downstream) NA NA NA ctacttgggaggctgaagtgg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11107795G>C NA hg19 0.02 1.839238 GGAxGCT COVERED NOVEL 0 7 4.213624 KEEP 0 0 0 14 485 GG 0.995343 0.993552 0 4 60 128 0 0 8.520345 50 60 1761 98 0.074074 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11108528 11108528 __UNKNOWN__ IGR SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11108528G>T NA NA BAGE2 (9603 upstream) : AP003900.6 (61259 downstream) NA NA NA gtagggtgtggtggcatgcac 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11108528G>T NA hg19 0.02 -0.236847 GTGxTGG COVERED NOVEL 0 6 4.514537 KEEP 0 0 0 15 513 GG 0.99649 0.610258 0 3 60 99 0 0 7.242397 24 60 808 45 0.111111 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11111991 11111991 __UNKNOWN__ IGR SNP C C T rs10433181 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11111991C>T NA NA BAGE2 (13066 upstream) : AP003900.6 (57796 downstream) NA NA NA cACTGAACtccccattttata 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11111991C>T NA hg19 0.02 2.187724 CTCxCCA COVERED NOVEL 0 2 3.886092 KEEP 0 0 0 13 414 CC 0.994391 0.976447 0 9 60 310 0 0 25.236281 39 60 1370 88 0.1875 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114094 11114094 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11114094C>T NA NA BAGE2 (15169 upstream) : AP003900.6 (55693 downstream) NA NA NA aaaaattagccgggtgtggtg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11114094C>T NA hg19 0.02 -0.350658 AGCxGGG COVERED NOVEL 0 3 6.319475 KEEP 0 0 0 21 677 CC 0.999869 0.877593 0 3 60 108 0 0 7.787322 32 60 1012 70 0.085714 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114613 11114613 __UNKNOWN__ IGR SNP C C T rs545625602 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11114613C>T NA NA BAGE2 (15688 upstream) : AP003900.6 (55174 downstream) NA NA NA CAGCAGCGGCCCAGGTGGAGT 0.502 NA NA c||| 89 0.0177716 0.0091 0.0101 5008 , , NA 111536 0.0129 NA 0.008 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11114613C>T NA hg19 0.02 37.293826 GGCxCAG COVERED NOVEL 0 2 15.516577 KEEP 0 2 58 72 2377 CC 1 1 0 29 60 996 0 0 58.808181 807 60 27650 1091 0.034689 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11116648 11116648 __UNKNOWN__ IGR SNP G G C rs7279221 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11116648G>C NA NA BAGE2 (17723 upstream) : AP003900.6 (53139 downstream) NA NA NA AGAGAggccgggcacggtggc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11116648G>C NA hg19 0.02 2.152665 CCGxGCA COVERED NOVEL 0 14 8.724777 KEEP 1 0 0 29 1004 GG 0.999997 0.98954 0 5 60 179 0 0 12.970365 51 60 1798 105 0.089286 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11119416 11119416 __UNKNOWN__ IGR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11119416T>A NA NA BAGE2 (20491 upstream) : AP003900.6 (50371 downstream) NA NA NA tggtggtgtgtgcctgtagtc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11119416T>A NA hg19 0.02 1.681231 GTGxGCC COVERED NOVEL 0 26 19.59009 KEEP 1 1 31 76 2287 TT 1 0.999881 0 6 60 215 0 0 14.733358 86 60 2925 200 0.065217 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11125106 11125106 __UNKNOWN__ IGR SNP A A C rs138168916 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11125106A>C NA NA BAGE2 (26181 upstream) : AP003900.6 (44681 downstream) NA NA NA tcatgcctgtaatcccagcac 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11125106A>C NA hg19 0.02 1.979492 TGTxATC COVERED NOVEL 0 13 3.075836 KEEP 3 2 56 30 899 AA 0.999997 0.984158 0 5 60 178 0 0 12.829846 52 60 1749 111 0.087719 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11126026 11126026 __UNKNOWN__ IGR SNP G G T rs74504516 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11126026G>T NA NA BAGE2 (27101 upstream) : AP003900.6 (43761 downstream) NA NA NA tgggtcactgggattacaggt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11126026G>T NA hg19 0.02 -0.174722 CTGxGAT COVERED NOVEL 0 3 2.40788 KEEP 0 0 0 8 282 GG 0.99257 0.384528 0 4 60 133 0 0 10.871483 16 60 538 34 0.2 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11130087 11130087 __UNKNOWN__ IGR SNP C C T rs148660963 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11130087C>T NA NA BAGE2 (31162 upstream) : AP003900.6 (39700 downstream) NA NA NA tgacgtcttgccatgttgccg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11130087C>T NA hg19 0.02 -0.297202 TTGxCAT COVERED NOVEL 0 2 2.407303 KEEP 0 0 0 8 257 CC 0.99257 0.775257 0 5 60 161 0 0 12.473845 27 60 933 52 0.15625 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11131582 11131582 __UNKNOWN__ IGR SNP C C G rs150859298 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11131582C>G NA NA BAGE2 (32657 upstream) : AP003900.6 (38205 downstream) NA NA NA aggtagctcactcctgtaatc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11131582C>G NA hg19 0.02 -0.166693 TCAxTCC COVERED NOVEL 0 2 2.407766 KEEP 0 0 0 8 274 CT 0.993072 0.351495 0 4 60 140 0 0 11.662011 15 60 570 41 0.210526 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11132434 11132434 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11132434C>A NA NA BAGE2 (33509 upstream) : AP003900.6 (37353 downstream) NA NA NA aaatattagccgggcgtggtg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11132434C>A NA hg19 0.02 -0.394747 AGCxGGG COVERED NOVEL 0 8 3.61113 KEEP 0 0 0 12 386 CC 0.993634 0.920741 0 7 60 237 0 0 19.434933 28 60 912 64 0.2 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11134186 11134186 __UNKNOWN__ IGR SNP A A T rs112209572 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11134186A>T NA NA BAGE2 (35261 upstream) : AP003900.6 (35601 downstream) NA NA NA ctggagtgcaatggagcaatc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11134186A>T NA hg19 0.02 -0.315803 GCAxTGG COVERED NOVEL 0 5 3.009154 KEEP 0 0 0 10 323 AA 0.992708 0.812496 0 3 60 100 0 0 7.109471 29 60 991 56 0.09375 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11135341 11135341 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11135341G>A NA NA BAGE2 (36416 upstream) : AP003900.6 (34446 downstream) NA NA NA actccagcctgggagacagag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11135341G>A NA hg19 0.02 -0.263108 CCTxGGA COVERED NOVEL 0 4 4.213501 KEEP 0 0 0 14 477 GG 0.995343 0.690438 0 4 60 132 0 0 10.497278 19 60 669 56 0.173913 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11138010 11138010 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11138010C>T NA NA BAGE2 (39085 upstream) : AP003900.6 (31777 downstream) NA NA NA cttgctctatcgcccaggctg 0.458 NA NA c||| 2349 0.46905 0.3396 0.549 5008 , , NA 34512 0.4683 NA 0.5775 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11138010C>T NA hg19 0.02 -0.166644 TATxGCC COVERED NOVEL 0 9 6.318863 KEEP 0 0 0 21 696 CC 0.999869 0.353901 0 5 60 172 0 0 16.045878 7 60 239 50 0.416667 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11140940 11140940 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11140940C>T NA NA BAGE2 (42015 upstream) : AP003900.6 (28847 downstream) NA NA NA TATAGACAgactgggcgcggt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11140940C>T NA hg19 0.02 1.906278 AGAxTGG COVERED NOVEL 0 7 6.01813 KEEP 0 0 0 20 691 CC 0.999863 0.976731 0 5 60 167 0 0 11.985816 46 60 1611 102 0.098039 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11140991 11140991 __UNKNOWN__ IGR SNP G G A rs2740282 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11140991G>A NA NA BAGE2 (42066 upstream) : AP003900.6 (28796 downstream) NA NA NA aggccgaggcgggcagatcac 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11140991G>A NA hg19 0.02 -0.385967 GGCxGGC COVERED NOVEL 0 5 4.045234 KEEP 0 1 30 24 753 GG 0.999931 0.918107 0 3 60 105 0 0 7.272079 38 60 1281 87 0.073171 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11147547 11147547 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11147547C>A NA NA BAGE2 (48622 upstream) : AP003900.6 (22240 downstream) NA NA NA gagacaggatcttgttatgtt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11147547C>A NA hg19 0.02 -0.403508 GATxTTG COVERED NOVEL 0 9 4.514027 KEEP 1 0 0 15 496 CC 0.995343 0.93014 0 3 60 103 0 0 6.977022 41 60 1447 71 0.068182 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11149487 11149487 __UNKNOWN__ IGR SNP T T A rs71267383 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11149487T>A NA NA BAGE2 (50562 upstream) : AP003900.6 (20300 downstream) NA NA NA aacatttctatatgccaagag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11149487T>A NA hg19 0.02 -0.271932 CTAxATG COVERED NOVEL 0 1 2.707965 KEEP 0 0 0 9 275 TT 0.99254 0.711964 0 4 60 138 0 0 10.861487 22 60 746 46 0.153846 0.717315 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11181417 11181417 __UNKNOWN__ lincRNA SNP G G C rs915519 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11181417G>C ENST00000603265.1 + 0 231 NA NA NA ATGGGGTTGGGGGCCTCTCGG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11181417G>C NA hg19 0.02 6.198317 TGGxGGC COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 0 2.407804 KEEP 0 0 0 8 280 GG 0.99257 0.99257 0 + 13 60 440 0 0 29.629046 177 60 6194 243 ENST00000603265.1 0.068421 1 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11181697 11181697 __UNKNOWN__ lincRNA SNP G G T rs10439873|rs71336116 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11181697G>T ENST00000603265.1 + 0 231 NA NA NA CACAGTGGAGGCCAAAATGAC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11181697G>T NA hg19 0.02 4.020313 GAGxCCA COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 0 3.009757 KEEP 0 0 0 10 346 GG 0.992708 0.9927 0 + 31 60 1029 0 0 91.127364 67 60 2419 138 ENST00000603265.1 0.316327 0.999992 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11181699 11181699 __UNKNOWN__ lincRNA SNP C C G rs71336116|rs10439874 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11181699C>G ENST00000603265.1 + 0 231 NA NA NA CAGTGGAGGCCAAAATGACTG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11181699C>G NA hg19 0.02 4.528253 GGCxAAA COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 0 3.008625 KEEP 0 0 0 10 323 CC 0.992708 0.992699 0 + 30 60 1044 0 0 92.505666 68 60 2445 135 ENST00000603265.1 0.306122 0.999991 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11181740 11181740 __UNKNOWN__ lincRNA SNP A A G rs150864950 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11181740A>G ENST00000603265.1 + 0 231 NA NA NA CCACCAGGGAAGGGCCCTGGA 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11181740A>G NA hg19 0.02 2.112221 GGAxGGG COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 1 2.691124 KEEP 0 0 0 9 242 AA 0.99254 0.991416 0 + 8 60 289 0 0 22.077667 59 60 2027 93 ENST00000603265.1 0.119403 0.998867 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11182750 11182750 __UNKNOWN__ lincRNA SNP C C G rs2225393 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11182750C>G ENST00000603265.1 + 0 231 NA NA NA cttgacctcccaaagtgctgg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11182750C>G NA hg19 0.02 -0.42988 TCCxAAA COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 5 4.51463 KEEP 1 0 0 15 518 CC 0.995343 0.950046 0 + 5 60 167 0 0 12.170728 42 60 1533 79 ENST00000603265.1 0.106383 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11186821 11186821 __UNKNOWN__ IGR SNP G G A rs10433255 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:11186821G>A NA NA AP003900.6 (2775 upstream) : None (None downstream) NA NA NA caggacaatcgctggaacccg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.11186821G>A NA hg19 0.02 -0.184209 ATCxCTG COVERED NOVEL 0 11 2.74249 KEEP 4 1 28 19 633 GG 0.999859 0.423418 0 3 60 93 0 0 8.924474 3 60 113 47 0.5 0.423478 POTED 317754 __UNKNOWN__ __UNKNOWN__ 21 14982764 14982764 __UNKNOWN__ Missense_Mutation SNP G G A rs201348025 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:14982764G>A ENST00000299443.5 + 1 267 c.215G>A c.(214-216)tGc>tAc p.C72Y NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 72 NA plasma membrane (GO:0005886) central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 TTCCCCTGCTGCAGGGGGAGC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 2 3 3 NA NA NA 21 NA NA 14982764 276 1569 1845 SO:0001583 missense AY172978 CCDS13562.1 21q11.2 2013-01-10 2008-11-26 2008-11-26 ENSG00000166351 ENSG00000166351 317754 POTE ankyrin domain containing, Ankyrin repeat domain containing 23822 protein-coding gene gene with protein product cancer/testis antigen family 104, member 1 607549 ankyrin repeat domain 21, ANKRD26-like family B, member 3 ANKRD21, A26B3 NA 12475935, 15276201, 16364570 Standard NM_174981 NM_174981 NA Approved POTE, POTE-21, POTE21, CT104.1 uc002yjb.1 Q86YR6 OTTHUMG00000074197 ENST00000299443.5:c.215G>A chr21.hg19:g.14982764G>A ENSP00000299443:p.Cys72Tyr NA C9JCF7 hg19 CCDS13562.1 0.02 7.17937 GCTxCAG COVERED . . . . . . . . . . G 8.414 0.844887 0.16963 . . ENSG00000166351 ENST00000299443 T 0.38560 1.13 . . . . . . . . T 0.34454 0.0898 L 0.61218 1.895 0.09310 N 1 P 0.39520 0.676 B 0.42343 0.384 T 0.27739 -1.0065 7 0.02654 T 1 . . . . . 72 Q86YR6 POTED_HUMAN Y 72 ENSP00000299443:C72Y ENSP00000299443:C72Y C + 2 0 POTED 13904635 0.393000 0.25237 0.062000 0.19696 0.062000 0.15995 0.994000 0.29693 0.119000 0.18210 0.121000 0.15741 TGC NOVEL POTED-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157660.1 1 4.815699 KEEP 2 0 0 16 561 GG 0.999366 0.999366 0 + 10 49 325 0 0 20.115552 187 60 6772 266 ENST00000299443.5 0.050761 1 NCAM2 4685 __UNKNOWN__ __UNKNOWN__ 21 22913932 22913932 __UNKNOWN__ 3'UTR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:22913932T>A ENST00000400546.1 + 0 6417 NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 NA NA axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608) axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TCCatttatatatatttttta 0.254 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS42910.1 21q21 2013-02-11 ENSG00000154654 ENSG00000154654 4685 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7657 protein-coding gene gene with protein product 602040 NA 9226371 Standard NM_004540 NM_004540 NA Approved NCAM21, MGC51008 uc002yld.2 O15394 OTTHUMG00000078121 ENST00000400546.1:c.*3654T>A chr21.hg19:g.22913932T>A NA A8MQ06|B7Z841|Q7Z7F2 hg19 CCDS42910.1 0.02 6.469135 ATAxATA COVERED NOVEL NCAM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000170915.1 0 4.212601 KEEP 0 0 0 14 431 TT 0.995343 0.995343 0 + 22 60 756 0 0 58.41591 136 60 4577 197 ENST00000400546.1 0.139241 1 NCAM2 4685 __UNKNOWN__ __UNKNOWN__ 21 22913934 22913934 __UNKNOWN__ 3'UTR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:22913934T>G ENST00000400546.1 + 0 6419 NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 NA NA axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608) axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) Catttatatatattttttatt 0.254 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS42910.1 21q21 2013-02-11 ENSG00000154654 ENSG00000154654 4685 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7657 protein-coding gene gene with protein product 602040 NA 9226371 Standard NM_004540 NM_004540 NA Approved NCAM21, MGC51008 uc002yld.2 O15394 OTTHUMG00000078121 ENST00000400546.1:c.*3656T>G chr21.hg19:g.22913934T>G NA A8MQ06|B7Z841|Q7Z7F2 hg19 CCDS42910.1 0.02 6.877355 ATAxATT COVERED NOVEL NCAM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000170915.1 0 4.212214 KEEP 0 0 0 14 422 TT 0.995343 0.995343 0 + 23 60 847 0 0 67.276546 134 60 4497 196 ENST00000400546.1 0.146497 1 APP 351 __UNKNOWN__ __UNKNOWN__ 21 27318056 27318056 __UNKNOWN__ Intron SNP C C T rs45505398 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:27318056C>T ENST00000346798.3 - 13 1721 APP_ENST00000357903.3_Intron|APP_ENST00000358918.3_Intron|APP_ENST00000359726.3_Intron|APP_ENST00000354192.3_Intron|APP_ENST00000448388.2_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000439274.2_Intron|APP_ENST00000440126.3_Intron NM_000484.3 NP_000475.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein NA NA adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542) apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202) acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914) endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) ctctattgcccaggtggcgtg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M15533 CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1 21q21.2 2014-01-30 2008-07-31 ENSG00000142192 ENSG00000142192 351 Endogenous ligands 620 protein-coding gene gene with protein product peptidase nexin-II 104760 Alzheimer disease AD1 NA 1679289 Standard NM_000484 NM_001136130 NA Approved uc002ylz.3 P05067 OTTHUMG00000078438 ENST00000346798.3:c.1687+8847G>A chr21.hg19:g.27318056C>T NA B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58 hg19 CCDS13576.1 0.02 6.728409 GCCxAGG COVERED NOVEL APP-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000171340.1 1 5.416707 KEEP 0 0 0 18 583 CC 0.999859 0.999859 0 - 47 60 1656 0 0 143.818623 128 60 4388 201 ENST00000346798.3 0.268571 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 32114378 32114378 __UNKNOWN__ IGR SNP C C T rs372740411|rs113531247 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:32114378C>T NA NA KRTAP21-3 (23283 upstream) : KRTAP21-2 (4733 downstream) NA NA NA GCCATATCCACAACCATAGCC 0.537 NA NA c||| 22 0.00439297 0.0038 0.0072 5008 , , NA 42504 0.004 NA 0.006 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.32114378C>T NA hg19 0.02 3.586461 CCAxAAC COVERED NOVEL 0 4 4.213542 KEEP 6 0 0 14 487 CC 0.995343 0.995343 0 5 45 173 0 0 11.437276 80 60 2770 204 0.058824 1 AP000304.12 0 __UNKNOWN__ __UNKNOWN__ 21 35266351 35266351 __UNKNOWN__ Intron SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:35266351T>G ENST00000429238.1 - 3 286 ITSN1_ENST00000381318.3_3'UTR NA NA NA CCCATCCTGGTCCAGGCCACC 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000429238.1:c.286+13293A>C chr21.hg19:g.35266351T>G NA hg19 0.02 4.096855 TGGxCCA COVERED NOVEL AP000304.12-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000368258.1 0 4.513225 KEEP 0 0 0 15 461 TT 0.99649 0.99649 0 - 42 60 1388 0 0 120.782577 104 60 3448 194 ENST00000429238.1 0.287671 1 CLIC6 54102 __UNKNOWN__ __UNKNOWN__ 21 36088783 36088783 __UNKNOWN__ 3'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:36088783C>G ENST00000349499.2 + 0 2064 CLIC6_ENST00000360731.3_3'UTR NM_053277.1 NP_444507.1 Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 NA NA chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) voltage-gated chloride channel activity (GO:0005247) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 TGAAATGAAGCTGGGCTGTTT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 92 92 92 NA NA NA 21 NA NA 36088783 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF426169 CCDS13638.1 21q22.12 2012-09-26 ENSG00000159212 ENSG00000159212 54102 Ion channels / Chloride channels : Intracellular 2065 protein-coding gene gene with protein product 615321 CLIC1L NA 10830953 Standard NM_053277 NA Approved CLIC5 uc002yuf.1 Q96NY7 OTTHUMG00000086237 ENST00000349499.2:c.*3C>G chr21.hg19:g.36088783C>G NA A8K0U8|Q8IX31 hg19 CCDS13638.1 0.02 13.18252 AAGxTGG COVERED NOVEL CLIC6-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000194157.1 0 8.728314 KEEP 0 0 0 29 1018 CC 0.999997 0.999997 0 + 79 60 2806 0 0 241.775075 232 60 8475 426 ENST00000349499.2 0.254019 1 TTC3 7267 __UNKNOWN__ __UNKNOWN__ 21 38520017 38520017 __UNKNOWN__ Intron SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:38520017A>C ENST00000399017.2 + 22 4763 TTC3_ENST00000479930.1_Intron|TTC3_ENST00000354749.2_Intron|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Intron NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 NA NA negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GCAGTCGTCCACCCCTTTCCC 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(38;194 1649 35661) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84296 CCDS13651.1 21q22.2 2013-01-11 ENSG00000182670 ENSG00000182670 7267 RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing 12393 protein-coding gene gene with protein product 602259 NA 8947847 Standard NM_003316 NA Approved TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105 uc002yvz.3 P53804 OTTHUMG00000086654 ENST00000399017.2:c.2016+114A>C chr21.hg19:g.38520017A>C NA A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4 hg19 CCDS13651.1 0.02 1.369253 TCCxCCC COVERED NOVEL TTC3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194776.1 2 3.903454 KEEP 0 0 0 13 340 AA 0.994391 0.983992 0 + 13 60 150 0 0 7.749106 48 60 1339 107 ENST00000399017.2 0.213115 0.989542 PRDM15 63977 __UNKNOWN__ __UNKNOWN__ 21 43277272 43277272 __UNKNOWN__ Intron SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:43277272C>A ENST00000398548.1 - 4 498 PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000447207.2_Intron|PRDM15_ENST00000269844.3_Intron|PRDM15_ENST00000538201.1_Intron NM_001040424.1 NP_001035514.1 P57071 PRD15_HUMAN PR domain containing 15 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 TCCTGTTTGGCAACAGCCTTT 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 65 63 NA NA NA 21 NA NA 43277272 2203 4300 6503 SO:0001627 intron_variant AF276513 CCDS13676.1, CCDS42932.1, CCDS63370.1 21q22.3 2013-01-08 2002-07-31 ENSG00000141956 ENSG00000141956 63977 Zinc fingers, C2H2-type 13999 protein-coding gene gene with protein product NA chromosome 21 open reading frame 83 ZNF298, C21orf83 NA 12036297, 12036298 Standard NM_022115 NM_022115 NA Approved uc002yzq.1 P57071 OTTHUMG00000086781 ENST00000398548.1:c.396+12G>T chr21.hg19:g.43277272C>A NA E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3 hg19 CCDS42932.1 0.02 1.777724 TGGxAAC COVERED NOVEL PRDM15-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339836.1 0 6.921644 KEEP 0 0 0 23 762 CC 0.999892 0.99921 0 - 28 60 950 0 0 85.679173 53 60 1915 114 ENST00000398548.1 0.345679 0.999317 COL6A1 1291 __UNKNOWN__ __UNKNOWN__ 21 47410373 47410373 __UNKNOWN__ Intron SNP A A G rs11702174 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr21:47410373A>G ENST00000361866.3 + 13 1116 NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208) collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383) platelet-derived growth factor binding (GO:0048407) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) gggagggacgaggaggaatgg 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 14 13 13 NA NA NA 21 NA NA 47410373 2151 4206 6357 SO:0001627 intron_variant M20776 CCDS13727.1 21q22.3 2014-09-17 ENSG00000142156 ENSG00000142156 1291 Collagens 2211 protein-coding gene gene with protein product 120220 NA Standard NM_001848 XM_006723964 NA Approved uc002zhu.1 P12109 OTTHUMG00000090440 ENST00000361866.3:c.1002+37A>G chr21.hg19:g.47410373A>G NA O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8 hg19 CCDS13727.1 0.02 1.839588 ACGxGGA COVERED NOVEL COL6A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206877.1 0 3.104232 KEEP 1 1 36 23 581 AA 0.999909 0.999849 0 + 5 60 175 1 0 12.497505 53 60 1681 159 ENST00000361866.3 0.086207 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16404642 16404642 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:16404642G>C NA NA LA16c-2F2.8 (27587 upstream) : LA16c-23H5.4 (12626 downstream) NA NA NA GGGGCAGCTCGGGAGAGCCGG 0.706 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.16404642G>C NA hg19 0.02 -0.210459 CTCxGGA COVERED NOVEL 0 0 2.407192 KEEP 8 0 0 8 250 GG 0.99257 0.518282 0 6 25 207 0 0 18.418662 13 57 389 45 0.315789 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16414371 16414371 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:16414371G>A NA NA LA16c-2F2.8 (37316 upstream) : LA16c-23H5.4 (2897 downstream) NA NA NA TCCTTTCCCCGGAGCACTCGG 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.16414371G>A NA hg19 0.02 4.392998 CCCxGAG COVERED NOVEL 0 0 8.359644 KEEP 36 1 23 36 1212 GG 0.999997 0.999992 0 6 40 202 0 0 13.304387 91 50 3210 206 0.061856 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16883254 16883254 __UNKNOWN__ IGR SNP G G C rs9798695 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:16883254G>C NA NA AP000539.2 (307063 upstream) : KB-67B5.17 (118694 downstream) NA NA NA caaacctggaggcatcacact 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.16883254G>C NA hg19 0.02 -0.105276 GGAxGCA UNCOVERED NOVEL 0 1 2.407797 KEEP 12 0 0 8 277 GG 0 0 0 3 44 104 0 0 9.178411 7 22 254 35 0.3 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16883266 16883266 __UNKNOWN__ IGR SNP C C T rs112298949 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:16883266C>T NA NA AP000539.2 (307075 upstream) : KB-67B5.17 (118682 downstream) NA NA NA catcacactacttgatttcaa 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.16883266C>T NA hg19 0.02 -0.096495 CTAxTTG UNCOVERED NOVEL 0 1 2.407729 KEEP 12 0 0 8 274 CC 0 0 0 3 22 102 0 0 9.143571 6 46 203 34 0.333333 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16913603 16913603 __UNKNOWN__ IGR SNP G G A rs112295691 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:16913603G>A NA NA AP000539.2 (337412 upstream) : KB-67B5.17 (88345 downstream) NA NA NA tagctactcaggaggctgatg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.16913603G>A NA hg19 0.02 -0.131597 TCAxGAG COVERED NOVEL 0 5 3.91269 KEEP 2 0 0 13 456 GG 0.993072 0.227586 0 3 36 103 0 0 8.471825 12 50 442 38 0.2 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16914955 16914955 __UNKNOWN__ IGR SNP A A T rs78885180 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:16914955A>T NA NA AP000539.2 (338764 upstream) : KB-67B5.17 (86993 downstream) NA NA NA GCAATATGAAAATATGACACT 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.16914955A>T NA hg19 0.02 1.918051 GAAxATA COVERED NOVEL 0 2 3.774125 KEEP 18 1 9 16 455 AA 0.997832 0.991548 0 4 25 146 0 0 10.098278 57 60 1981 105 0.065574 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16953751 16953751 __UNKNOWN__ IGR SNP A A G rs200619354 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:16953751A>G NA NA AP000539.2 (377560 upstream) : KB-67B5.17 (48197 downstream) NA NA NA TACATTTACAATGGCCAACAA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.16953751A>G NA hg19 0.02 4.14411 ACAxTGG COVERED NOVEL 0 3 5.11488 KEEP 10 0 0 17 529 AA 0.994391 0.99439 0 7 37 246 0 0 16.408968 112 60 3957 206 0.058824 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16953759 16953759 __UNKNOWN__ IGR SNP C C A rs201805955 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:16953759C>A NA NA AP000539.2 (377568 upstream) : KB-67B5.17 (48189 downstream) NA NA NA CAATGGCCAACAAGAAAATTA 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.16953759C>A NA hg19 0.02 3.636809 CAAxAAG COVERED NOVEL 0 3 4.514883 KEEP 9 0 0 15 540 CC 0.993072 0.993072 0 8 37 281 0 0 19.1271 113 60 4196 204 0.066116 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16955814 16955814 __UNKNOWN__ IGR SNP A A G rs62221553 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:16955814A>G NA NA AP000539.2 (379623 upstream) : KB-67B5.17 (46134 downstream) NA NA NA tatgggcatgagccaccatgc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.16955814A>G NA hg19 0.02 -0.219264 ATGxGCC UNCOVERED NOVEL 0 1 2.406995 KEEP 2 0 0 8 247 AA 0 0 0 3 46 107 0 0 8.264629 20 60 677 40 0.130435 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 17178672 17178672 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:17178672G>A NA NA KB-7G2.8 (3134 upstream) : AC005301.8 (49086 downstream) NA NA NA CTGGCTGCCCGCATACTTCAC 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.17178672G>A NA hg19 0.02 1.804021 CCCxCAT COVERED NOVEL 0 0 6.319426 KEEP 0 0 0 21 693 GG 0.999869 0.998862 0 59 60 1996 0 0 208.935125 19 60 646 115 0.75641 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 20325906 20325906 __UNKNOWN__ IGR SNP G G A rs9618793 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:20325906G>A NA NA XXbac-B444P24.14 (17180 upstream) : XXbac-B33L19.3 (421 downstream) NA NA NA atgtatcttggctcaagcctg 0.393 NA NA .||| 1799 0.359225 0.3654 0.3689 5008 , , NA 21040 0.2649 NA 0.4115 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.20325906G>A NA hg19 0.02 -0.087723 TTGxCTC UNCOVERED NOVEL 0 0 3.009578 KEEP 6 0 0 10 340 GG 0.99257 0.09898 0 2 29 71 0 0 6.850062 2 40 69 27 0.5 0.099721 PI4KAP1 728233 __UNKNOWN__ __UNKNOWN__ 22 20393475 20393475 __UNKNOWN__ RNA SNP G G A rs369000751 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:20393475G>A ENST00000430523.3 - 0 748 NR_003563.1 Q8N8J0 PI4P1_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NA NA phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015) NA CAGCCTTCACGCCCCGCCGCC 0.672 NA NA .||| 1172 0.234026 0.059 0.353 5008 , , NA 11586 0.4653 NA 0.1024 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 22q11.21 2007-08-14 2007-08-14 ENSG00000274602 728233 33576 pseudogene pseudogene NA NA Standard NR_003563 NA Approved uc010gsg.2 Q8N8J0 ENST00000430523.3: chr22.hg19:g.20393475G>A NA hg19 0.02 -0.28064 CACxCCC COVERED NOVEL PI4KAP1-005 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000319534.5 0 3.008148 KEEP 3 0 0 10 303 GG 0.99254 0.734154 0 - 3 27 100 0 0 7.109723 29 48 876 62 ENST00000430523.3 0.09375 0.739671 PI4KAP1 728233 __UNKNOWN__ __UNKNOWN__ 22 20394526 20394526 __UNKNOWN__ RNA SNP C C T rs457751 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:20394526C>T ENST00000430523.3 - 0 669 NR_003563.1 Q8N8J0 PI4P1_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NA NA phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015) NA TACTTGATGACAGCCGACACG 0.488 NA NA .||| 2411 0.48143 0.3797 0.5058 5008 , , NA 13624 0.4484 NA 0.675 False NA ,,, NA NA NA 2504 0.4366 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 22q11.21 2007-08-14 2007-08-14 ENSG00000274602 728233 33576 pseudogene pseudogene NA NA Standard NR_003563 NA Approved uc010gsg.2 Q8N8J0 ENST00000430523.3: chr22.hg19:g.20394526C>T NA hg19 0.02 -0.31509 TGAxAGC COVERED NOVEL PI4KAP1-005 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000319534.5 1 2.407052 KEEP 2 0 0 8 265 CC 0.99257 0.812384 0 - 4 40 136 0 0 10.060579 32 50 1141 55 ENST00000430523.3 0.111111 0.818465 P2RX6 9127 __UNKNOWN__ __UNKNOWN__ 22 21380718 21380718 __UNKNOWN__ Missense_Mutation SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:21380718C>G ENST00000413302.2 + 12 1286 c.1138C>G c.(1138-1140)Ccg>Gcg p.P380A P2RX6_ENST00000443995.3_Missense_Mutation_p.P327A|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Missense_Mutation_p.P370A|P2RX6_ENST00000401443.1_Missense_Mutation_p.P354A O15547 P2RX6_HUMAN purinergic receptor P2X, ligand-gated ion channel, 6 380 NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069) ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888) NA GGCCAAGGCCCCGAAAGCAAC 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 38 39 NA NA NA 22 NA NA 21380718 2202 4296 6498 SO:0001583 missense CCDS13788.2, CCDS54504.1 22q11.21 2012-01-17 2008-03-28 2008-03-28 ENSG00000099957 ENSG00000099957 9127 Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic 8538 protein-coding gene gene with protein product 608077 purinergic receptor P2X-like 1, orphan receptor P2RXL1 NA 9242461, 10591208, 8786426 Standard NM_005446 NM_005446 NA Approved P2XM, MGC129625, P2X6 uc010gsu.1 O15547 OTTHUMG00000150689 ENST00000413302.2:c.1138C>G chr22.hg19:g.21380718C>G ENSP00000416193:p.Pro380Ala NA F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50 hg19 CCDS13788.2 0.02 2.091289 GCCxCGA COVERED . . . . . . . . . . C 22.1 4.247169 0.80024 . . ENSG00000099957 ENST00000413302;ENST00000336296;ENST00000401443;ENST00000443995 T;T;T;T 0.03860 3.78;3.78;3.78;3.78 4.54 3.53 0.40419 . 0.000000 0.53938 D 0.000043 T 0.11110 0.0271 L 0.54323 1.7 0.23168 N 0.998181 D;P 0.67145 0.996;0.932 P;P 0.61070 0.883;0.555 T 0.12066 -1.0562 10 0.23302 T 0.38 -9.0567 8.801 0.34909 0.0:0.8993:0.0:0.1007 . 380;354 O15547;F6V3D7 P2RX6_HUMAN;. A 380;370;354;327 ENSP00000416193:P380A;ENSP00000338797:P370A;ENSP00000385309:P354A;ENSP00000408088:P327A ENSP00000338797:P370A P + 1 0 P2RX6 19710718 0.136000 0.22515 0.512000 0.27736 0.659000 0.38960 3.664000 0.54525 1.506000 0.48736 0.655000 0.94253 CCG NOVEL P2RX6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319625.2 0 8.426194 KEEP 0 0 0 28 945 CC 0.999997 0.995684 0 + 49 60 1610 0 0 166.869923 19 60 667 118 ENST00000413302.2 0.720588 0.995687 YPEL1 29799 __UNKNOWN__ __UNKNOWN__ 22 22058007 22058007 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:22058007A>G ENST00000339468.3 - 3 545 NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) NA NA nucleus (GO:0005634) breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) CGGCGGGGGGATGGTGGGTTC 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF060862 CCDS13794.1 22q11.2 2008-02-04 2001-11-28 ENSG00000100027 ENSG00000100027 29799 12845 protein-coding gene gene with protein product 608082 yippee (Drosophila) homolog-like 1 NA 11473580 Standard NM_013313 NM_013313 NA Approved uc002zvl.3 O60688 OTTHUMG00000150830 ENST00000339468.3:c.161+120T>C chr22.hg19:g.22058007A>G NA Q65ZA1|Q6GLI6 hg19 CCDS13794.1 0.02 -0.150645 GGGxTGG COVERED NOVEL YPEL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320245.1 0 5.878634 KEEP 0 0 0 20 433 AA 0.999863 0.322762 0 - 4 60 92 0 0 7.295028 12 60 216 44 ENST00000339468.3 0.25 0.322807 TOP3B 8940 __UNKNOWN__ __UNKNOWN__ 22 22328848 22328848 __UNKNOWN__ Nonsense_Mutation SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:22328848G>T ENST00000398793.2 - 3 517 c.83C>A c.(82-84)tCa>tAa p.S28* TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Nonsense_Mutation_p.S28* NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 28 Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}. NA chromosome segregation (GO:0007059)|DNA topological change (GO:0006265) condensed chromosome (GO:0000793)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) CCCTTTGTGTGAGGACAGGCT 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 79 58 65 NA NA NA 22 NA NA 22328848 2203 4300 6503 SO:0001587 stop_gained AF017146 CCDS13797.1 22q11.22 2011-05-24 ENSG00000100038 ENSG00000100038 8940 11993 protein-coding gene gene with protein product 603582 NA 9786842, 9074928 Standard NM_003935 XM_005261811 NA Approved uc002zvs.3 O95985 OTTHUMG00000167438 ENST00000398793.2:c.83C>A chr22.hg19:g.22328848G>T ENSP00000381773:p.Ser28* NA A0M8Q3|Q9BUP5 hg19 CCDS13797.1 0.02 1.678002 TGTxAGG COVERED . . . . . . . . . . G 38 7.142370 0.98092 . . ENSG00000100038 ENST00000357179;ENST00000398793;ENST00000449517;ENST00000424393;ENST00000437929;ENST00000430142;ENST00000456075;ENST00000449704;ENST00000442653;ENST00000437103 . . . 6.07 6.07 0.98685 . 0.131366 0.53938 D 0.000058 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -0.0011 20.6439 0.99570 0.0:0.0:1.0:0.0 . . . . X 28 . ENSP00000349705:S28X S - 2 0 TOP3B 20658848 1.000000 0.71417 1.000000 0.80357 0.861000 0.49209 5.514000 0.67043 2.884000 0.98904 0.655000 0.94253 TCA NOVEL TOP3B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320251.1 0 9.329453 KEEP 0 0 0 31 1040 GG 0.999997 0.999315 0 - 9 60 287 0 0 20.7306 72 60 2594 133 ENST00000398793.2 0.111111 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 22610243 22610243 __UNKNOWN__ IGR SNP C C T rs62144944 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:22610243C>T NA NA VPREB1 (10316 upstream) : LL22NC03-2H8.5 (28068 downstream) NA NA NA gccaagatcacgccactgcac 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.22610243C>T NA hg19 0.02 -0.026319 TCAxGCC UNCOVERED NOVEL 0 3 3.008314 KEEP 1 0 0 10 330 CC 0.992708 0 0 2 24 68 0 0 6.924677 1 40 37 23 0.666667 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 22657156 22657156 __UNKNOWN__ IGR SNP G G A rs200352868 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:22657156G>A NA NA LL22NC03-2H8.4 (7997 upstream) : BMS1P20 (432 downstream) NA NA NA gcctggtggcgggtgcctata 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.22657156G>A NA hg19 0.02 -0.078945 GGCxGGT UNCOVERED NOVEL 0 4 3.001642 KEEP 0 0 0 10 301 GG 0.992708 0.076772 0 3 55 100 0 0 8.943185 6 60 203 25 0.333333 0.077336 C22orf43 0 __UNKNOWN__ __UNKNOWN__ 22 23959852 23959852 __UNKNOWN__ Intron SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:23959852C>G ENST00000317749.5 - 7 734 NM_016449.3 NP_057533.2 Q6PGQ1 DRIC1_HUMAN NA NA endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 AACCTGGAAGCACACAGAGGA 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 125 119 121 NA NA NA 22 NA NA 23959852 1986 4178 6164 SO:0001627 intron_variant NA NA NA NA NA ENST00000317749.5:c.437-8G>C chr22.hg19:g.23959852C>G NA Q6ICJ8|Q6P4I3|Q9NU31 hg19 CCDS42985.1 0.02 7.815169 AAGxACA COVERED NOVEL C22orf43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319708.2 0 4.078929 KEEP 1 2 55 33 1115 CC 0.999999 0.999999 0 - 11 52 379 0 0 24.19408 209 60 7598 295 ENST00000317749.5 0.05 1 GSTTP2 653399 __UNKNOWN__ __UNKNOWN__ 22 24400165 24400165 __UNKNOWN__ RNA SNP A A G rs367924613 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:24400165A>G ENST00000466426.1 - 0 253 glutathione S-transferase theta pseudogene 2 NA NA NA CTCCCAGGAGAAGCAGAGACA 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 22q11.23 2010-09-29 ENSG00000239334 ENSG00000276950 653399 33606 pseudogene pseudogene NA NA Standard NR_003082 NA Approved uc002zzh.1 OTTHUMG00000150811 ENST00000466426.1: chr22.hg19:g.24400165A>G NA hg19 0.02 -0.394228 GAGxAGC COVERED NOVEL GSTTP2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000322304.1 0 3.29387 KEEP 1 0 0 11 310 AA 0.993072 0.920221 0 - 3 27 102 0 0 6.848879 42 60 1453 67 ENST00000466426.1 0.066667 0.92664 POM121L9P 29774 __UNKNOWN__ __UNKNOWN__ 22 24655994 24655994 __UNKNOWN__ RNA SNP C C T rs78238951 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:24655994C>T ENST00000414583.2 + 0 1948 NR_003714.1 POM121 transmembrane nucleoporin-like 9, pseudogene NA NA NA GACCTGCCCTCGCAGAGTGGG 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL040062, AL117401 22q11.22 2012-03-13 2012-03-13 ENSG00000128262 ENSG00000128262 29774 30080 pseudogene pseudogene NA POM121 membrane glycoprotein-like 9, pseudogene NA Standard NM_014549 NR_003714 NA Approved OTTHUMG00000150763 ENST00000414583.2: chr22.hg19:g.24655994C>T NA hg19 0.02 -0.21931 CCTxGCA COVERED NOVEL POM121L9P-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000319991.1 0 2.542305 KEEP 6 1 30 19 637 CC 0.999859 0.55281 0 + 5 25 168 0 0 13.753566 20 54 700 69 ENST00000414583.2 0.2 0.552887 POM121L9P 29774 __UNKNOWN__ __UNKNOWN__ 22 24656027 24656027 __UNKNOWN__ RNA SNP G G A rs74985030 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:24656027G>A ENST00000414583.2 + 0 1948 NR_003714.1 POM121 transmembrane nucleoporin-like 9, pseudogene NA NA NA GGCTCAGAGCGGGGCTCACAG 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL040062, AL117401 22q11.22 2012-03-13 2012-03-13 ENSG00000128262 ENSG00000128262 29774 30080 pseudogene pseudogene NA POM121 membrane glycoprotein-like 9, pseudogene NA Standard NM_014549 NR_003714 NA Approved OTTHUMG00000150763 ENST00000414583.2: chr22.hg19:g.24656027G>A NA hg19 0.02 -0.236858 AGCxGGG COVERED NOVEL POM121L9P-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000319991.1 0 6.019015 KEEP 2 0 0 20 661 GG 0.999863 0.612323 0 + 5 25 169 0 0 13.668062 22 60 763 64 ENST00000414583.2 0.185185 0.612407 GGT1 2678 __UNKNOWN__ __UNKNOWN__ 22 25010758 25010758 __UNKNOWN__ Silent SNP C C T rs191957455 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:25010758C>T ENST00000400382.1 + 6 935 c.180C>T c.(178-180)gaC>gaT p.D60D GGT1_ENST00000406383.2_Silent_p.D60D|GGT1_ENST00000400380.1_Silent_p.D60D|GGT1_ENST00000248923.4_Silent_p.D60D|GGT1_ENST00000400383.1_Silent_p.D60D P19440 GGT1_HUMAN gamma-glutamyltransferase 1 60 NA arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638) anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374) p.D60D(1) breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) CACTGCGGGACGGTGGCTCTG 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) large_intestine(1) C ,,, 1,4073 0,1,2036 41 46 44 NA 180,180,180,180 -7.5 0.4 22 44 1,8369 0,1,4184 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous GGT1 NM_001032364.2,NM_001032365.2,NM_005265.2,NM_013430.2 ,,, 0,2,6220 TT,TC,CC NA 0.0119,0.0245,0.0161 ,,, 60/570,60/570,60/570,60/570 25010758 2,12442 2037 4185 6222 SO:0001819 synonymous_variant M24903 CCDS42992.1 22q11.23 2008-08-15 ENSG00000100031 ENSG00000100031 2678 2.3.2.2 CD molecules, Gamma-glutamyltransferases 4250 protein-coding gene gene with protein product 612346 GGT NA 8104871, 18357469 Standard NM_013430 NM_001288833 NA Approved D22S672, D22S732, CD224 uc003aan.1 P19440 OTTHUMG00000030859 ENST00000400382.1:c.180C>T chr22.hg19:g.25010758C>T NA Q08247|Q14404|Q8TBS1|Q9UMK1 hg19 CCDS42992.1 0.02 1.888594 GGAxGGT COVERED NOVEL GGT1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250797.1 0 3.912521 KEEP 3 0 0 13 445 CC 0.994391 0.976447 0 + 9 49 290 0 0 22.810742 44 60 1491 90 ENST00000400382.1 0.169811 0.981955 GGT1 2678 __UNKNOWN__ __UNKNOWN__ 22 25010828 25010828 __UNKNOWN__ Missense_Mutation SNP G G A rs77018131 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:25010828G>A ENST00000400382.1 + 6 1005 c.250G>A c.(250-252)Ggc>Agc p.G84S GGT1_ENST00000406383.2_Missense_Mutation_p.G84S|GGT1_ENST00000400380.1_Missense_Mutation_p.G84S|GGT1_ENST00000248923.4_Missense_Mutation_p.G84S|GGT1_ENST00000400383.1_Missense_Mutation_p.G84S P19440 GGT1_HUMAN gamma-glutamyltransferase 1 84 NA arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638) anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374) p.G84S(1) breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) CCACAGCATGGGCATCGGGGG 0.642 NA NA a||| 1 0.000199681 0 0 5008 , , NA 13761 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA NA 1 Substitution - Missense(1) large_intestine(1) 37 39 38 NA NA NA 22 NA NA 25010828 2020 4166 6186 SO:0001583 missense M24903 CCDS42992.1 22q11.23 2008-08-15 ENSG00000100031 ENSG00000100031 2678 2.3.2.2 CD molecules, Gamma-glutamyltransferases 4250 protein-coding gene gene with protein product 612346 GGT NA 8104871, 18357469 Standard NM_013430 NM_001288833 NA Approved D22S672, D22S732, CD224 uc003aan.1 P19440 OTTHUMG00000030859 ENST00000400382.1:c.250G>A chr22.hg19:g.25010828G>A ENSP00000383232:p.Gly84Ser NA Q08247|Q14404|Q8TBS1|Q9UMK1 hg19 CCDS42992.1 0.02 2.083412 ATGxGCA COVERED . . . . . . . . . . . 26.4 4.730880 0.89390 . . ENSG00000100031 ENST00000248923;ENST00000411974;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000452551;ENST00000400383;ENST00000400380;ENST00000455483;ENST00000430289;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.21191 2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02 3.89 3.89 0.44902 . 0.000000 0.85682 D 0.000000 T 0.56992 0.2023 H 0.94771 3.58 0.58432 D 0.999996 P 0.44986 0.847 D 0.63877 0.919 T 0.70680 -0.4805 10 0.72032 D 0.01 -22.8757 15.7009 0.77541 0.0:0.0:1.0:0.0 . 84 P19440 GGT1_HUMAN S 84 ENSP00000248923:G84S;ENSP00000389935:G84S;ENSP00000393537:G84S;ENSP00000395271:G84S;ENSP00000383232:G84S;ENSP00000415553:G84S;ENSP00000383233:G84S;ENSP00000383231:G84S;ENSP00000415024:G84S;ENSP00000417044:G84S;ENSP00000400621:G84S;ENSP00000398589:G84S;ENSP00000387796:G84S;ENSP00000385975:G84S;ENSP00000415068:G84S ENSP00000248923:G84S G + 1 0 GGT1 23340828 1.000000 0.71417 1.000000 0.80357 0.857000 0.48899 7.412000 0.80091 2.100000 0.63781 0.555000 0.69702 GGC NOVEL GGT1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250797.1 0 4.815681 KEEP 0 0 0 16 561 GG 0.997832 0.994072 0 + 12 49 431 0 0 35.608418 50 60 1747 109 ENST00000400382.1 0.193548 0.996233 GGT1 2678 __UNKNOWN__ __UNKNOWN__ 22 25023903 25023903 __UNKNOWN__ Silent SNP C C T rs1041998 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:25023903C>T ENST00000400382.1 + 13 2048 c.1293C>T c.(1291-1293)aaC>aaT p.N431N GGT1_ENST00000403838.1_Silent_p.N87N|GGT1_ENST00000401885.1_Silent_p.N87N|GGT1_ENST00000406383.2_Silent_p.N431N|GGT1_ENST00000404920.1_Silent_p.N87N|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Silent_p.N431N|GGT1_ENST00000248923.4_Silent_p.N431N|GGT1_ENST00000400383.1_Silent_p.N431N|GGT1_ENST00000404532.1_Silent_p.N87N|GGT1_ENST00000404223.1_Silent_p.N87N P19440 GGT1_HUMAN gamma-glutamyltransferase 1 431 NA arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638) anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374) breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) GCATCACCAACGAGTTTGGGG 0.627 NA NA c||| 1 0.000199681 0 0.0014 5008 , , NA 10503 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA NA 0 C ,,, 1,4405 0,1,2202 72 79 77 NA 1293,1293,1293,1293 0.1 0 22 dbSNP_86 77 12,8588 0,12,4288 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous GGT1 NM_001032364.2,NM_001032365.2,NM_005265.2,NM_013430.2 ,,, 0,13,6490 TT,TC,CC NA 0.1395,0.0227,0.1 ,,, 431/570,431/570,431/570,431/570 25023903 13,12993 2203 4300 6503 SO:0001819 synonymous_variant M24903 CCDS42992.1 22q11.23 2008-08-15 ENSG00000100031 ENSG00000100031 2678 2.3.2.2 CD molecules, Gamma-glutamyltransferases 4250 protein-coding gene gene with protein product 612346 GGT NA 8104871, 18357469 Standard NM_013430 NM_001288833 NA Approved D22S672, D22S732, CD224 uc003aan.1 P19440 OTTHUMG00000030859 ENST00000400382.1:c.1293C>T chr22.hg19:g.25023903C>T NA Q08247|Q14404|Q8TBS1|Q9UMK1 hg19 CCDS42992.1 0.02 1.909423 CAAxGAG COVERED NOVEL GGT1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250797.1 0 5.115854 KEEP 2 0 0 17 558 CC 0.999366 0.993792 0 + 23 52 740 0 0 66.44195 43 60 1337 102 ENST00000400382.1 0.348485 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 25045398 25045398 __UNKNOWN__ IGR SNP G G T rs555975980 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:25045398G>T NA NA GGT1 (20426 upstream) : PIWIL3 (69602 downstream) NA NA NA TCTCCAGGCCGTTGGGGTGCC 0.607 NA NA g||| 122 0.024361 0.0817 0.0072 5008 , , NA 20200 0.001 NA 0.003 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.25045398G>T NA hg19 0.02 -0.210541 GCCxTTG UNCOVERED NOVEL 0 0 5.417051 KEEP 33 0 0 18 604 GG 0 0 0 3 37 111 0 0 8.604847 21 40 732 92 0.125 0.522161 KIAA1671 85379 __UNKNOWN__ __UNKNOWN__ 22 25574689 25574689 __UNKNOWN__ Intron SNP G G C rs4049526 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:25574689G>C ENST00000406486.4 + 10 5461 KIAA1671_ENST00000401395.1_Intron|KIAA1671_ENST00000358431.3_Intron Q9BY89 K1671_HUMAN KIAA1671 NA NA autonomic_ganglia(1)|breast(1)|endometrium(2)|lung(2)|prostate(1)|stomach(2) 9 GTCCACCTCAGGCCGGGTGGT 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46676.1 22q11.23 2009-07-09 ENSG00000197077 ENSG00000197077 85379 29345 protein-coding gene gene with protein product NA NA 15289310 Standard NM_001145206 NM_001145206 NA Approved uc003abn.3 Q9BY89 OTTHUMG00000150841 ENST00000406486.4:c.5074+1200G>C chr22.hg19:g.25574689G>C NA B0QYF2|B7ZW08|Q5THZ5 hg19 CCDS46676.1 0.02 1.465008 TCAxGCC COVERED NOVEL KIAA1671-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320306.6 0 4.511712 KEEP 1 0 0 15 478 GG 0.99649 0.984476 0 + 7 40 183 0 0 12.700245 46 60 1663 87 ENST00000406486.4 0.132075 0.987943 KIAA1671 85379 __UNKNOWN__ __UNKNOWN__ 22 25574693 25574693 __UNKNOWN__ Intron SNP G G A rs4049527 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:25574693G>A ENST00000406486.4 + 10 5461 KIAA1671_ENST00000401395.1_Intron|KIAA1671_ENST00000358431.3_Intron Q9BY89 K1671_HUMAN KIAA1671 NA NA autonomic_ganglia(1)|breast(1)|endometrium(2)|lung(2)|prostate(1)|stomach(2) 9 ACCTCAGGCCGGGTGGTCTCA 0.647 NA NA A||| 119 0.023762 0.0401 0.0331 5008 , , NA 13020 0.004 NA 0.0268 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46676.1 22q11.23 2009-07-09 ENSG00000197077 ENSG00000197077 85379 29345 protein-coding gene gene with protein product NA NA 15289310 Standard NM_001145206 NM_001145206 NA Approved uc003abn.3 Q9BY89 OTTHUMG00000150841 ENST00000406486.4:c.5074+1204G>A chr22.hg19:g.25574693G>A NA B0QYF2|B7ZW08|Q5THZ5 hg19 CCDS46676.1 0.02 1.988214 GCCxGGT COVERED NOVEL KIAA1671-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320306.6 0 4.211106 KEEP 1 0 0 14 413 GG 0.995343 0.977383 0 + 5 27 175 0 0 12.828327 45 60 1549 84 ENST00000406486.4 0.1 0.981955 SEC14L6 730005 __UNKNOWN__ __UNKNOWN__ 22 30938684 30938684 __UNKNOWN__ Intron SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:30938684T>C ENST00000402034.2 - 2 54 NM_001193336.2 NP_001180265.2 B5MCN3 S14L6_HUMAN SEC14-like 6 (S. cerevisiae) NA NA integral component of membrane (GO:0016021)|intracellular (GO:0005622) transporter activity (GO:0005215) lung(3) 3 CTGAGAAGTCTGTATCAGTTG 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54518.1 22q12.2 2011-05-06 ENSG00000214491 ENSG00000214491 730005 40047 protein-coding gene gene with protein product NA NA Standard NM_001193336 NA Approved uc021wnu.1 B5MCN3 OTTHUMG00000151267 ENST00000402034.2:c.55-3795A>G chr22.hg19:g.30938684T>C NA hg19 CCDS54518.1 0.02 -0.412299 GTCxGTA COVERED NOVEL SEC14L6-001 NOVEL not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000322022.2 13 3.642917 KEEP 2 1 31 23 669 TT 0.999909 0.941656 0 - 3 42 102 0 0 7.186651 32 60 1127 107 ENST00000402034.2 0.085714 0.941741 RNF185 91445 __UNKNOWN__ __UNKNOWN__ 22 31602587 31602587 __UNKNOWN__ 3'UTR SNP G G A rs200090813 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:31602587G>A ENST00000326132.6 + 0 2753 RNF185_ENST00000266252.7_3'UTR NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 NA NA autophagy (GO:0006914)|protein ubiquitination (GO:0016567) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|large_intestine(1)|lung(3)|skin(1) 6 AATGGAGTGAGCCCAGGAGAG 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13890.1, CCDS46689.1 22q12.2 2013-01-09 ENSG00000138942 ENSG00000138942 91445 RING-type (C3HC4) zinc fingers 26783 protein-coding gene gene with protein product hypothetical protein FLJ38628 NA NA 12477932 Standard NM_152267 NM_152267 NA Approved FLJ38628 uc003akb.3 Q96GF1 OTTHUMG00000151253 ENST00000326132.6:c.*2015G>A chr22.hg19:g.31602587G>A NA A8K5C1|A9X3T8|Q8N900 hg19 CCDS13890.1 0.02 11.685112 TGAxCCC COVERED NOVEL RNF185-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321927.2 3 23.009889 KEEP 1 1 30 87 3094 GG 1 1 0 + 27 46 914 0 0 63.832813 300 60 10870 539 ENST00000326132.6 0.082569 1 RNF185 91445 __UNKNOWN__ __UNKNOWN__ 22 31602602 31602602 __UNKNOWN__ 3'UTR SNP G G A rs200997145 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:31602602G>A ENST00000326132.6 + 0 2768 RNF185_ENST00000266252.7_3'UTR NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 NA NA autophagy (GO:0006914)|protein ubiquitination (GO:0016567) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|large_intestine(1)|lung(3)|skin(1) 6 GGAGAGCTCAGCCAACAGAGG 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13890.1, CCDS46689.1 22q12.2 2013-01-09 ENSG00000138942 ENSG00000138942 91445 RING-type (C3HC4) zinc fingers 26783 protein-coding gene gene with protein product hypothetical protein FLJ38628 NA NA 12477932 Standard NM_152267 NM_152267 NA Approved FLJ38628 uc003akb.3 Q96GF1 OTTHUMG00000151253 ENST00000326132.6:c.*2030G>A chr22.hg19:g.31602602G>A NA A8K5C1|A9X3T8|Q8N900 hg19 CCDS13890.1 0.02 13.325793 TCAxCCA COVERED NOVEL RNF185-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321927.2 2 24.210636 KEEP 0 1 30 91 3170 GG 1 1 0 + 42 59 1436 0 0 108.163853 303 60 11063 567 ENST00000326132.6 0.121739 1 RNF185 91445 __UNKNOWN__ __UNKNOWN__ 22 31602671 31602671 __UNKNOWN__ 3'UTR SNP C C T rs62237432 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:31602671C>T ENST00000326132.6 + 0 2837 RNF185_ENST00000266252.7_3'UTR NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 NA NA autophagy (GO:0006914)|protein ubiquitination (GO:0016567) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|large_intestine(1)|lung(3)|skin(1) 6 TTTTGAACCTCGTAGGTCCCC 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13890.1, CCDS46689.1 22q12.2 2013-01-09 ENSG00000138942 ENSG00000138942 91445 RING-type (C3HC4) zinc fingers 26783 protein-coding gene gene with protein product hypothetical protein FLJ38628 NA NA 12477932 Standard NM_152267 NM_152267 NA Approved FLJ38628 uc003akb.3 Q96GF1 OTTHUMG00000151253 ENST00000326132.6:c.*2099C>T chr22.hg19:g.31602671C>T NA A8K5C1|A9X3T8|Q8N900 hg19 CCDS13890.1 0.02 10.146574 CCTxGTA COVERED NOVEL RNF185-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321927.2 0 11.945082 KEEP 1 3 85 70 2201 CC 1 1 0 + 40 60 1430 0 0 114.08842 214 60 6889 407 ENST00000326132.6 0.15748 1 RNF185 91445 __UNKNOWN__ __UNKNOWN__ 22 31602710 31602710 __UNKNOWN__ 3'UTR SNP G G T rs62237433 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:31602710G>T ENST00000326132.6 + 0 2876 RNF185_ENST00000266252.7_3'UTR NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 NA NA autophagy (GO:0006914)|protein ubiquitination (GO:0016567) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|large_intestine(1)|lung(3)|skin(1) 6 GCTAAGTAAGGCAGGAGAGCT 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13890.1, CCDS46689.1 22q12.2 2013-01-09 ENSG00000138942 ENSG00000138942 91445 RING-type (C3HC4) zinc fingers 26783 protein-coding gene gene with protein product hypothetical protein FLJ38628 NA NA 12477932 Standard NM_152267 NM_152267 NA Approved FLJ38628 uc003akb.3 Q96GF1 OTTHUMG00000151253 ENST00000326132.6:c.*2138G>T chr22.hg19:g.31602710G>T NA A8K5C1|A9X3T8|Q8N900 hg19 CCDS13890.1 0.02 5.248891 AAGxCAG COVERED NOVEL RNF185-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321927.2 0 12.50655 KEEP 1 2 52 60 2059 GG 1 1 0 + 22 49 738 0 0 54.474543 173 60 6141 307 ENST00000326132.6 0.112821 1 CTA-342B11.1 0 __UNKNOWN__ __UNKNOWN__ 22 32363345 32363345 __UNKNOWN__ lincRNA SNP A A G rs189717849 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:32363345A>G ENST00000430449.1 + 0 58 NA NA NA gggtttctccatgttggtcag 0.557 NA NA A||| 19 0.00379393 0 0.0058 5008 , , NA 17380 0 NA 0.0119 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000430449.1: chr22.hg19:g.32363345A>G NA hg19 0.02 -0.035088 TCCxTGT UNCOVERED NOVEL CTA-342B11.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128923.1 8 3.604418 KEEP 4 0 0 12 339 AA 0.99257 0.019833 0 + 3 60 95 0 0 9.953802 1 60 35 19 ENST00000430449.1 0.75 0.019982 TRIOBP 11078 __UNKNOWN__ __UNKNOWN__ 22 38142112 38142112 __UNKNOWN__ Intron SNP T T G rs191726257 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:38142112T>G ENST00000406386.3 + 11 5577 NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein NA NA actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634) actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ttgcggcaggtcccgcccccg 0.806 NA NA T||| 4 0.000798722 0 0 5008 , , NA 2962 0 NA 0.002 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051449 CCDS33644.1, CCDS43015.1, CCDS43016.1 22q13.1 2014-06-03 ENSG00000100106 ENSG00000100106 11078 Pleckstrin homology (PH) domain containing 17009 protein-coding gene gene with protein product 609761 DFNB28 NA 11148140, 16385457, 16385458 Standard NM_001039141 NA Approved HRIHFB2122, KIAA1662, Tara, TAP68 uc003atr.3 Q9H2D6 OTTHUMG00000150657 ENST00000406386.3:c.5322+5073T>G chr22.hg19:g.38142112T>G NA B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4 hg19 CCDS43015.1 0.02 -0.262057 AGGxCCC COVERED NOVEL TRIOBP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000319439.2 0 7.225823 KEEP 0 1 5 26 615 TT 0.999988 0.739662 0 + 9 60 99 0 0 6.458866 18 60 434 76 ENST00000406386.3 0.333333 0.739671 APOBEC3F 200316 __UNKNOWN__ __UNKNOWN__ 22 39441311 39441311 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:39441311C>T ENST00000308521.5 + 3 808 APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q8IUX4 ABC3F_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F NA NA base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230) apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529) cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) CTGGGGGTGTCCCAGGGCAGC 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC038808 CCDS33648.1, CCDS33649.1 22q13.1-q13.2 2008-05-15 ENSG00000128394 ENSG00000128394 200316 Apolipoprotein B mRNA editing enzymes 17356 protein-coding gene gene with protein product 608993 NA 11863358, 17121840 Standard NM_145298 NM_145298 NA Approved ARP8, BK150C2.4.MRNA, KA6 uc003aww.3 Q8IUX4 OTTHUMG00000151080 ENST00000308521.5:c.451+86C>T chr22.hg19:g.39441311C>T NA B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5 hg19 CCDS33648.1 0.02 3.675558 TGTxCCA COVERED NOVEL APOBEC3F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321216.1 1 12.034895 KEEP 3 0 0 40 1300 CC 1 0.999999 0 + 53 60 1610 0 0 148.88081 73 60 2425 187 ENST00000308521.5 0.420635 1 FAM83F 113828 __UNKNOWN__ __UNKNOWN__ 22 40417702 40417702 __UNKNOWN__ Silent SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:40417702G>T ENST00000333407.6 + 4 1282 c.1188G>T c.(1186-1188)ctG>ctT p.L396L FAM83F_ENST00000473717.1_Silent_p.L228L NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 396 NA breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGGGAGAGCTGAGCCAGAAGG 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 38 30 33 NA NA NA 22 NA NA 40417702 2203 4300 6503 SO:0001819 synonymous_variant CCDS14000.2 22q13.1 2006-03-22 ENSG00000133477 ENSG00000133477 113828 25148 protein-coding gene gene with protein product NA NA 12477932 Standard NM_138435 NM_138435 NA Approved uc003ayk.1 Q8NEG4 OTTHUMG00000150688 ENST00000333407.6:c.1188G>T chr22.hg19:g.40417702G>T NA Q96FD6 hg19 CCDS14000.2 0.02 12.225202 GCTxAGC COVERED NOVEL FAM83F-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319624.3 1 12.639605 KEEP 0 0 0 42 1413 GG 1 1 0 + 127 60 4327 0 0 397.568008 204 60 7523 450 ENST00000333407.6 0.383686 1 MKL1 57591 __UNKNOWN__ __UNKNOWN__ 22 40831734 40831734 __UNKNOWN__ Intron SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:40831734A>G ENST00000402042.1 - 5 604 MKL1_ENST00000407029.1_Intron|MKL1_ENST00000355630.3_Intron|MKL1_ENST00000402630.1_Intron|MKL1_ENST00000396617.3_Intron NM_001282661.1 NP_001269590.1 Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 NA NA negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 caggagatcgagaccatcctg 0.527 NA NA T RBM15 acute megakaryocytic leukemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 22 22q13 57591 megakaryoblastic leukemia (translocation) 1 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037859 CCDS14003.1, CCDS74865.1, CCDS74866.1 22q13 2008-06-12 ENSG00000196588 ENSG00000196588 57591 14334 protein-coding gene gene with protein product megakaryocytic acute leukemia, myocardin-related transcription factor A, basic, SAP and coiled-coil domain 606078 NA 11431691, 12019265, 14970199 Standard NM_020831 XM_005261692 NA Approved KIAA1438, MAL, MRTF-A, BSAC uc003ayw.1 Q969V6 OTTHUMG00000151146 ENST00000402042.1:c.8-176T>C chr22.hg19:g.40831734A>G NA Q8TCL1|Q96SC5|Q96SC6|Q9P2B0 hg19 0.02 -0.131594 TCGxGAC COVERED NOVEL MKL1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000321523.1 1 3.590478 KEEP 0 0 0 12 347 AA 0.993634 0.259304 0 - 6 60 205 0 0 18.978096 9 60 323 32 ENST00000402042.1 0.4 0.260965 CYP2D6 1565 __UNKNOWN__ __UNKNOWN__ 22 42523636 42523636 __UNKNOWN__ Splice_Site SNP C C A rs1135831|rs3915951 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:42523636C>A ENST00000360608.5 - 7 1100 c.986G>T c.(985-987)cGc>cTc p.R329L CYP2D6_ENST00000389970.3_Splice_Site_p.R329L|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Splice_Site_p.R278L|NDUFA6-AS1_ENST00000439129.1_RNA NM_000106.5 NP_000097 P10635 CP2D6_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 329 NA R -> L (in dbSNP:rs3915951). alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739) aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491) p.R278L(5)|p.R329L(4) NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425) TTGGACACGGCCTGGACAGAC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9 Substitution - Missense(9) prostate(6)|large_intestine(2)|NS(1) 73 56 62 NA NA NA 22 NA NA 42523636 2201 4299 6500 SO:0001630 splice_region_variant M20403 CCDS33657.1, CCDS46721.1 22q13.1 2014-09-17 2003-01-14 ENSG00000100197 ENSG00000100197 1565 Cytochrome P450s 2625 protein-coding gene gene with protein product 124030 cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6, cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2, cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2, cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2, cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2 CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP NA 8449513 Standard NM_000106 NA Approved CPD6, P450-DB1, CYP2D, P450C2D uc003bce.3 P10635 OTTHUMG00000150918 ENST00000360608.5:c.986-1G>T chr22.hg19:g.42523636C>A NA Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8 hg19 CCDS46721.1 0.02 4.982173 CGGxCTG COVERED . . . . . . . . . . C 14.89 2.669463 0.47677 . . ENSG00000100197 ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856 T;T;T 0.79940 -1.32;-1.32;4.99 4.93 3.91 0.45181 . . . . . T 0.76435 0.3987 M 0.67953 2.075 0.41700 D 0.989391 B;B;B 0.15473 0.004;0.013;0.002 B;B;B 0.26693 0.013;0.072;0.013 T 0.72174 -0.4370 9 0.48119 T 0.1 . 5.5275 0.16967 0.1599:0.672:0.0:0.1681 rs3915951 329;278;329 C1ID54;Q6NXU8;Q6NWU0 .;.;. L 329;329;275;278;278 ENSP00000353820:R329L;ENSP00000374620:R329L;ENSP00000351927:R278L ENSP00000351927:R278L R - 2 0 CYP2D6 40853580 0.444000 0.25649 0.954000 0.39281 0.844000 0.47949 0.448000 0.21726 1.070000 0.40811 0.555000 0.69702 CGC NOVEL CYP2D6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320525.1 2 6.620966 KEEP 0 0 0 22 742 CC 0.999879 0.999879 0 Missense_Mutation - 7 40 225 0 0 12.990896 174 60 6034 226 ENST00000360608.5 0.038674 1 TCF20 6942 __UNKNOWN__ __UNKNOWN__ 22 42557137 42557137 __UNKNOWN__ 3'UTR SNP A A C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:42557137A>C ENST00000359486.3 - 0 6291 TCF20_ENST00000404876.1_3'UTR|TCF20_ENST00000335626.4_3'UTR NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CCCTCCCCCCACATTGTCACT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U19345 CCDS14032.1, CCDS14033.1 22q13.3 2011-02-08 ENSG00000100207 ENSG00000100207 6942 11631 protein-coding gene gene with protein product stromelysin-1 platelet-derived growth factor-responsive element binding protein 603107 NA 9730594, 10995766 Standard NM_181492 NM_005650 NA Approved AR1, SPBP uc003bcj.1 Q9UGU0 OTTHUMG00000150920 ENST00000359486.3:c.*272T>G chr22.hg19:g.42557137A>C NA A9JX12|O14528|Q13078|Q4V353|Q9H4M0 hg19 CCDS14033.1 0.02 -0.165772 CCCxCAT COVERED NOVEL TCF20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320531.1 2 2.70686 KEEP 0 0 0 9 252 AA 0.99254 0.351306 0 - 4 60 108 0 0 8.478255 15 60 445 41 ENST00000359486.3 0.210526 0.353947 FAM118A 55007 __UNKNOWN__ __UNKNOWN__ 22 45724670 45724670 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:45724670G>A ENST00000405673.1 + 0 989 FAM118A_ENST00000441876.2_Intron|FAM118A_ENST00000216214.3_Intron Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) aaaaacaaaagaaaaaaaaaa 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013696 CCDS14065.1 22q13.3 2006-04-26 2006-04-26 2006-04-26 ENSG00000100376 ENSG00000100376 55007 1313 protein-coding gene gene with protein product NA chromosome 22 open reading frame 8 C22orf8 NA 12477932 Standard NM_017911 NM_001104595 NA Approved FLJ20635, bK268H5.C22.4 uc003bga.4 Q9NWS6 OTTHUMG00000151338 ENST00000405673.1:c.*311G>A chr22.hg19:g.45724670G>A NA B3KWG4|B4DY02|Q5TII5|Q96CY3 hg19 0.02 -0.260435 AAAxAAA COVERED NOVEL FAM118A-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000322262.1 3 2.76573 KEEP 0 1 10 13 413 GG 0.995343 0.690438 0 + 4 60 99 0 2 6.793531 25 60 654 48 ENST00000405673.1 0.137931 0.693668 PPARA 5465 __UNKNOWN__ __UNKNOWN__ 22 46634981 46634981 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:46634981C>A ENST00000396000.2 + 0 5376 PPARA_ENST00000262735.5_3'UTR|PPARA_ENST00000407236.1_3'UTR Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha NA NA behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328) TCAAGGATGCCCAGGAGAGCT 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L02932 CCDS33669.1 22q12-q13.1 2013-01-16 2006-10-17 ENSG00000186951 ENSG00000186951 5465 Nuclear hormone receptors 9232 protein-coding gene gene with protein product 170998 peroxisome proliferative activated receptor, alpha PPAR NA 7684926, 10591208 Standard NM_001001928 XM_005261655 NA Approved hPPAR, NR1C1 uc003bgx.1 Q07869 OTTHUMG00000150443 ENST00000396000.2:c.*3704C>A chr22.hg19:g.46634981C>A NA B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1 hg19 CCDS33669.1 0.02 8.255408 TGCxCAG COVERED NOVEL PPARA-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318129.3 2 8.124419 KEEP 0 0 0 27 891 CC 0.999988 0.999988 0 + 86 60 2923 0 0 272.804557 119 60 4066 284 ENST00000396000.2 0.419512 1 HDAC10 83933 __UNKNOWN__ __UNKNOWN__ 22 50685268 50685268 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chr22:50685268G>A ENST00000216271.5 - 15 1867 HDAC10_ENST00000448072.1_Intron|MAPK12_ENST00000497036.1_Intron|HDAC10_ENST00000498366.1_Intron|HDAC10_ENST00000349505.4_Intron NM_001159286.1|NM_032019.5 NP_001152758.1|NP_114408.3 Q969S8 HDA10_HUMAN histone deacetylase 10 NA NA chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558) endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CACAGGTCCTGCCGTCAGAGG 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 30 33 32 NA NA NA 22 NA NA 50685268 2202 4300 6502 SO:0001627 intron_variant AF393962 CCDS14088.1, CCDS54545.1 22q13.31 2008-06-10 ENSG00000100429 ENSG00000100429 83933 18128 protein-coding gene gene with protein product 608544 NA 11677242, 11726666 Standard NM_032019 NM_032019 NA Approved DKFZP761B039 uc003bkg.3 Q969S8 OTTHUMG00000044647 ENST00000216271.5:c.1514+35C>T chr22.hg19:g.50685268G>A NA Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2 hg19 CCDS14088.1 0.02 3.478909 CCTxCCG COVERED NOVEL HDAC10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104141.4 0 18.359637 KEEP 0 0 0 61 2135 GG 1 1 0 - 116 60 3843 0 0 406.060634 32 60 1192 277 ENST00000216271.5 0.783784 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 9373771 9373771 __UNKNOWN__ IGR SNP C C T rs10127114 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:9373771C>T NA NA GS1-519E5.1 (130525 upstream) : TBL1X (57563 downstream) NA NA NA GAATGAGTTTCGAGTGTCAGG 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.9373771C>T NA hg19 0.02 -0.271167 TTTxGAG COVERED NOVEL 0 0 2.391847 KEEP 3 0 0 8 238 CC 0.99257 0.711986 0 7 60 246 0 0 20.76011 24 60 807 50 0.225806 0.717315 FRMPD4 9758 __UNKNOWN__ __UNKNOWN__ X 12328436 12328436 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:12328436C>T ENST00000380682.1 + 1 547 NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 NA NA positive regulation of synapse structural plasticity (GO:0051835) cytoskeleton (GO:0005856)|dendritic spine (GO:0043197) phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 aaggcaaggaccggccatttt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002314 CCDS35201.1 Xp22.31 2006-02-09 2006-02-09 2006-02-09 ENSG00000169933 ENSG00000169933 9758 29007 protein-coding gene gene with protein product 300838 PDZ domain containing 10 PDZK10, PDZD10 NA 9205841 Standard XM_045712 NM_014728 NA Approved KIAA0316 uc004cuz.2 Q14CM0 OTTHUMG00000021138 ENST00000380682.1:c.41+171305C>T chrX.hg19:g.12328436C>T NA A8K0X9|O15032 hg19 CCDS35201.1 0.02 -0.052637 GGAxCGG UNCOVERED NOVEL FRMPD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055771.1 3 3.9127 KEEP 11 0 0 13 457 CC 0 0 0 + 2 21 71 0 0 6.39567 4 40 140 35 ENST00000380682.1 0.333333 0.036766 CA5BP1 340591 __UNKNOWN__ __UNKNOWN__ X 15711114 15711114 __UNKNOWN__ RNA SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:15711114A>G ENST00000380334.2 + 0 254 Q8WTZ4 CA5BL_HUMAN carbonic anhydrase VB pseudogene 1 NA NA mitochondrion (GO:0005739) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) NA AACGCAGTCAAATTTGAAAAC 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC021816 Xp22.2 2012-11-02 2011-02-07 2011-02-07 ENSG00000186312 ENSG00000186312 340591 29544 pseudogene pseudogene similar to carbonic anhydrase VB, mitochondrial precursor, carbonic dehydratase NA carbonic anhydrase VB-like, carbonic anhydrase VB pseudogene CA5BL, CA5BP NA 12477932 Standard NR_026551 NR_026551 NA Approved PRO2325 uc011mir.1 Q8WTZ4 OTTHUMG00000021182 ENST00000380334.2: chrX.hg19:g.15711114A>G NA A6NEZ4 hg19 0.02 8.072734 TCAxATT COVERED NOVEL CA5BP1-005 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000055884.3 3 3.284005 KEEP 28 5 172 71 2229 AA 1 1 0 + 11 27 375 0 0 24.188546 192 60 6725 384 ENST00000380334.2 0.054187 1 EIF1AX 1964 __UNKNOWN__ __UNKNOWN__ X 20144124 20144124 __UNKNOWN__ 3'UTR SNP A A C rs185256829 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:20144124A>C ENST00000379607.5 - 0 2938 NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829) poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 CACTAGTGATAAAACATATTC 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L18960 CCDS14196.1 Xp22.13 2014-02-19 2002-11-28 2004-05-26 ENSG00000173674 ENSG00000173674 1964 3250 protein-coding gene gene with protein product 300186 eukaryotic translation initiation factor 1A, X chromosome EIF4C, EIF1A NA 8106356, 9381176 Standard NM_001412 NA Approved eIF-1A, eIF-4C uc004czt.3 P47813 OTTHUMG00000022704 ENST00000379607.5:c.*2300T>G chrX.hg19:g.20144124A>C NA B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6 hg19 CCDS14196.1 0.02 6.522105 GATxAAA COVERED NOVEL EIF1AX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058913.1 4 10.596315 KEEP 14 2 44 51 1461 AA 1 1 0 - 11 27 348 0 0 23.041725 141 60 4654 265 ENST00000379607.5 0.072368 1 EIF1AX 1964 __UNKNOWN__ __UNKNOWN__ X 20146050 20146050 __UNKNOWN__ 3'UTR SNP C C T rs371079018 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:20146050C>T ENST00000379607.5 - 0 1012 NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829) poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TGACTCTATACAATCAAGAGG 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L18960 CCDS14196.1 Xp22.13 2014-02-19 2002-11-28 2004-05-26 ENSG00000173674 ENSG00000173674 1964 3250 protein-coding gene gene with protein product 300186 eukaryotic translation initiation factor 1A, X chromosome EIF4C, EIF1A NA 8106356, 9381176 Standard NM_001412 NA Approved eIF-1A, eIF-4C uc004czt.3 P47813 OTTHUMG00000022704 ENST00000379607.5:c.*374G>A chrX.hg19:g.20146050C>T NA B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6 hg19 CCDS14196.1 0.02 9.542424 ATAxAAT COVERED NOVEL EIF1AX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058913.1 11 10.214003 KEEP 334 14 418 181 6187 CC 1 1 0 - 17 39 586 0 0 38.752375 268 50 9781 872 ENST00000379607.5 0.059649 1 DMD 1756 __UNKNOWN__ __UNKNOWN__ X 32717336 32717336 __UNKNOWN__ Missense_Mutation SNP G G C rs128626238 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:32717336G>C ENST00000357033.4 - 8 930 c.724C>G c.(724-726)Caa>Gaa p.Q242E DMD_ENST00000378677.2_Missense_Mutation_p.Q238E|DMD_ENST00000288447.4_Missense_Mutation_p.Q234E NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 242 NA cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385) cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ATGCTCACTTGTTGAGGCAAA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 GRCh37 CM920235 DMD M rs128626238 228 169 189 NA NA NA X NA NA 32717336 2202 4300 6502 SO:0001583 missense AF047505 CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1 Xp21.2 2014-09-17 2008-08-01 ENSG00000198947 ENSG00000198947 1756 2928 protein-coding gene gene with protein product muscular dystrophy, Duchenne and Becker types 300377 dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85 MRX85 NA 3282674, 3607877, 23900271 Standard NM_004006 NM_004019 NA Approved BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 uc004dda.1 P11532 OTTHUMG00000021336 ENST00000357033.4:c.724C>G chrX.hg19:g.32717336G>C ENSP00000354923:p.Gln242Glu NA E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4 hg19 CCDS14233.1 0.02 6.657501 CTTxTTG COVERED . . . . . . . . . . g 13.23 2.176128 0.38413 . . ENSG00000198947 ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447 T;T;T 0.72835 0.11;0.11;-0.69 5.57 5.57 0.84162 . 0.000000 0.36268 U 0.002697 T 0.63534 0.2519 L 0.41824 1.3 0.80722 D 1 B;B;B;B 0.31153 0.19;0.31;0.023;0.207 B;B;B;B 0.32724 0.022;0.151;0.014;0.072 T 0.59878 -0.7371 10 0.11794 T 0.64 . 18.5499 0.91060 0.0:0.0:1.0:0.0 . 234;234;242;238 Q4G0X0;P11532-4;P11532;E9PDN5 .;.;DMD_HUMAN;. E 234;238;242;242;119;234 ENSP00000367948:Q238E;ENSP00000354923:Q242E;ENSP00000288447:Q234E ENSP00000288447:Q234E Q - 1 0 DMD 32627257 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 5.543000 0.67225 2.323000 0.78572 0.506000 0.49869 CAA NOVEL DMD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056182.2 0 8.125693 KEEP 0 0 0 27 930 GG 0.999988 0.999988 0 - 18 60 673 0 0 50.343527 165 60 6039 260 ENST00000357033.4 0.098361 1 HDAC6 10013 __UNKNOWN__ __UNKNOWN__ X 48672789 48672789 __UNKNOWN__ Intron SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:48672789G>C ENST00000334136.5 + 11 984 HDAC6_ENST00000376619.2_Intron|HDAC6_ENST00000444343.2_Intron|HDAC6_ENST00000413163.2_Intron Q9UBN7 HDAC6_HUMAN histone deacetylase 6 NA NA aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471) alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GTTGGGTTGGGGGTGTCTATG 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(112;205 1675 2305 8976 15959) NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF132609 CCDS14306.1 Xp11.23 2014-06-12 ENSG00000094631 ENSG00000094631 10013 14064 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 90 300272 NA 10220385, 10048485 Standard NM_006044 NM_006044 NA Approved KIAA0901, JM21, HD6, FLJ16239, PPP1R90 uc004dks.1 Q9UBN7 OTTHUMG00000034496 ENST00000334136.5:c.807-58G>C chrX.hg19:g.48672789G>C NA O94975|Q6NT75|Q7L3E5|Q96CY0 hg19 CCDS14306.1 0.02 4.195668 TGGxGGT COVERED NOVEL HDAC6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000083394.2 1 3.608616 KEEP 0 0 0 12 386 GG 0.993634 0.993634 0 + 63 60 2187 0 0 205.338884 83 60 2858 189 ENST00000334136.5 0.431507 1 GAGE2A 729447 __UNKNOWN__ __UNKNOWN__ X 49360770 49360770 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:49360770G>T ENST00000362097.1 + 5 411 NM_001127212.1 NP_001120684.1 Q6NT46 GAG2A_HUMAN G antigen 2A NA NA endometrium(4) 4 Ovarian(276;0.236) AGACCGTTTAGTTCGTATCAT 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U19143 CCDS48114.1 Xp11.23 2009-03-17 2007-07-23 2007-07-23 ENSG00000189064 ENSG00000189064 729447 4099 protein-coding gene gene with protein product cancer/testis antigen family 4, member 2 300720 G antigen 2 GAGE2 NA 7544395 Standard NM_001127212 NA Approved CT4.2 Q6NT46 OTTHUMG00000024143 ENST00000362097.1:c.329-544G>T chrX.hg19:g.49360770G>T NA hg19 CCDS48114.1 0.02 33.768898 TTAxTTC COVERED NOVEL GAGE2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060827.3 27 87.74531 KEEP 112 7 223 370 12550 GG 1 1 0 + 29 40 982 0 0 57.137736 830 41 30047 1467 ENST00000362097.1 0.03376 1 XAGE3 170626 __UNKNOWN__ __UNKNOWN__ X 52891818 52891818 __UNKNOWN__ Intron SNP G G A rs73488230 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:52891818G>A ENST00000346279.3 - 5 384 XAGE3_ENST00000375491.3_Intron NM_133179.2 NP_573440.1 Q8WTP9 XAGE3_HUMAN X antigen family, member 3 NA NA kidney(1)|large_intestine(1)|lung(2) 4 CATTCAGTTAGACCTCTGTAG 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BG354572 CCDS14347.1 Xp11.22 2010-09-27 2004-06-07 2005-01-27 ENSG00000171402 ENSG00000171402 170626 14618 protein-coding gene gene with protein product cancer/testis antigen family 12, member 3a, cancer/testis antigen family 12, member 3b 300740 placenta-specific 6; G antigen, family D, 4 PLAC6, GAGED4 NA Standard NM_133179 NM_133179 NA Approved XAGE-3, pp9012, CT12.3a, CT12.3b uc004dre.3 Q8WTP9 OTTHUMG00000021587 ENST00000346279.3:c.314-149C>T chrX.hg19:g.52891818G>A NA Q5JS82|Q8WYS9 hg19 CCDS14347.1 0.02 8.223214 TTAxACC COVERED NOVEL XAGE3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056686.1 0 2.708471 KEEP 0 0 0 9 297 GG 0.99254 0.99254 0 - 55 70 1892 0 0 164.505566 144 60 5040 238 ENST00000346279.3 0.276382 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61687435 61687435 __UNKNOWN__ IGR SNP T T C rs71220354 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61687435T>C NA NA None (None upstream) : SPIN4 (879671 downstream) NA NA NA agggttcaactgtgtgacttg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61687435T>C NA hg19 0.02 7.466639 AACxGTG COVERED NOVEL 0 21 12.638063 KEEP 126 0 0 42 1308 TT 0.999988 0.999988 0 9 24 311 0 0 18.854963 224 45 8115 534 0.038627 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61687463 61687463 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61687463G>C NA NA None (None upstream) : SPIN4 (879643 downstream) NA NA NA tcatcactcagaagtttctga 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61687463G>C NA hg19 0.02 8.816498 TCAxAAG COVERED NOVEL 0 16 4.284766 KEEP 125 2 68 38 1302 GG 0.999957 0.999957 0 9 20 291 0 0 17.435465 217 45 8042 495 0.039823 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61691872 61691872 __UNKNOWN__ IGR SNP A A C rs4914281 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61691872A>C NA NA None (None upstream) : SPIN4 (875234 downstream) NA NA NA gctccatcaaaaggcatgttc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61691872A>C NA hg19 0.02 1.910363 CAAxAGG UNCOVERED NOVEL 0 4 2.406587 KEEP 53 0 0 8 240 AA 0 0 0 16 42 584 0 0 47.411853 78 42 2656 172 0.170213 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61691948 61691948 __UNKNOWN__ IGR SNP A A C rs71249215 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61691948A>C NA NA None (None upstream) : SPIN4 (875158 downstream) NA NA NA tgccttttatatgaagttcct 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61691948A>C NA hg19 0.02 2.112433 TATxTGA UNCOVERED NOVEL 0 7 2.707959 KEEP 83 0 0 9 277 AA 0 0 0 18 40 629 0 0 53.542042 57 40 2001 206 0.24 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61712615 61712615 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61712615T>C NA NA None (None upstream) : SPIN4 (854491 downstream) NA NA NA atcaataggattgttcaactc 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61712615T>C NA hg19 0.02 6.472137 GGAxTGT COVERED NOVEL 0 10 7.822101 KEEP 72 0 0 26 779 TT 0.999863 0.999863 0 13 46 468 0 0 33.689767 140 47 4883 349 0.084967 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61712718 61712718 __UNKNOWN__ IGR SNP A A C rs80269168 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61712718A>C NA NA None (None upstream) : SPIN4 (854388 downstream) NA NA NA cacaggcctcaaagccctcca 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61712718A>C NA hg19 0.02 4.028425 CTCxAAG COVERED NOVEL 0 10 9.627602 KEEP 41 0 0 32 968 AA 0.999869 0.999869 0 9 46 333 0 0 24.259356 96 47 3261 242 0.085714 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61718691 61718691 __UNKNOWN__ IGR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61718691G>C NA NA None (None upstream) : SPIN4 (848415 downstream) NA NA NA tttatatgaagttccttcctg 0.408 NA NA .||| 78 0.0206623 0.0401 0.0115 3775 , , NA 2399843 0.006 NA 0.007 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61718691G>C NA hg19 0.02 2.199796 GAAxTTC UNCOVERED NOVEL 0 5 2.708298 KEEP 75 0 0 9 301 GG 0 0 0 14 40 509 0 0 43.309806 47 40 1782 201 0.229508 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61718750 61718750 __UNKNOWN__ IGR SNP C C T rs145817738 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61718750C>T NA NA None (None upstream) : SPIN4 (848356 downstream) NA NA NA gcagattctacaaaaagagtg 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61718750C>T NA hg19 0.02 1.792046 CTAxAAA UNCOVERED NOVEL 0 7 2.708887 KEEP 76 0 0 9 321 CC 0 0 0 23 40 778 0 0 70.621459 41 40 1476 193 0.359375 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61719765 61719765 __UNKNOWN__ IGR SNP A A G rs10442433 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61719765A>G NA NA None (None upstream) : SPIN4 (847341 downstream) NA NA NA ccacttgcacattgtagaaaa 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61719765A>G NA hg19 0.02 11.80484 CACxTTG COVERED NOVEL 0 17 3.246619 KEEP 33 4 126 55 1717 AA 1 1 0 11 41 374 0 0 22.171736 290 49 10022 518 0.036545 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61719818 61719818 __UNKNOWN__ IGR SNP T T A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61719818T>A NA NA None (None upstream) : SPIN4 (847288 downstream) NA NA NA ttcaactctgtgaggtgaatg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61719818T>A NA hg19 0.02 12.371282 CTGxGAG COVERED NOVEL 0 22 21.060509 KEEP 28 0 0 70 2131 TT 1 1 0 11 40 402 0 0 24.959565 290 49 10319 600 0.036545 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61719855 61719855 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:61719855A>G NA NA None (None upstream) : SPIN4 (847251 downstream) NA NA NA gtttctgagaatgcttccgtt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.61719855A>G NA hg19 0.02 8.45515 AGAxTGC COVERED NOVEL 0 11 14.436446 KEEP 20 0 0 48 1383 AA 1 1 0 13 40 480 0 0 32.355788 223 49 7659 344 0.055085 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 66672252 66672252 __UNKNOWN__ IGR SNP A A G rs7052486 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:66672252A>G NA NA RNU6-394P (776046 upstream) : AR (92212 downstream) NA NA NA aagaggaagaagaagaagaag 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.66672252A>G NA hg19 0.02 -0.052628 AGAxGAA UNCOVERED NOVEL 0 5 2.407607 KEEP 4 0 0 8 265 AA 0 0 0 2 40 71 0 0 6.395886 4 60 135 17 0.333333 0.036766 RAB41 347517 __UNKNOWN__ __UNKNOWN__ X 69502179 69502179 __UNKNOWN__ Missense_Mutation SNP G G C rs139017779 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:69502179G>C ENST00000276066.4 + 1 158 c.112G>C c.(112-114)Gga>Cga p.G38R RAB41_ENST00000374473.2_Missense_Mutation_p.G38R NM_001032726.2 NP_001027898.2 Q86YS6 RAB43_HUMAN RAB41, member RAS oncogene family 25 NA Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2) 14 CTTATTCCTGGGAGAGCAGAG 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 88 70 76 NA NA NA X NA NA 69502179 2203 4300 6503 SO:0001583 missense CCDS35322.1, CCDS35322.2 Xq13.1 2008-10-30 2006-04-28 ENSG00000147127 ENSG00000147127 347517 RAB, member RAS oncogene 18293 protein-coding gene gene with protein product NA RAB41, member RAS homolog family NA 11697911 Standard XM_293398 NM_001032726 NA Approved uc010nkv.3 Q5JT25 OTTHUMG00000021772 ENST00000276066.4:c.112G>C chrX.hg19:g.69502179G>C ENSP00000276066:p.Gly38Arg NA A8K4P9|E9PBQ0 hg19 CCDS35322.2 0.02 20.317071 CTGxGAG COVERED . . . . . . . . . . G 15.54 2.863110 0.51482 . . ENSG00000147127 ENST00000374473;ENST00000276066 D;D 0.98862 -5.19;-3.27 4.3 1.46 0.22682 Small GTP-binding protein domain (1); 0.000000 0.52532 U 0.000075 D 0.99435 0.9800 H 0.99815 4.805 0.34520 D 0.708066 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.97320 0.9943 10 0.87932 D 0 . 5.451 0.16565 0.1857:0.0:0.6545:0.1597 . 38;38 Q5JT25-2;Q5JT25 .;RAB41_HUMAN R 38 ENSP00000363597:G38R;ENSP00000276066:G38R ENSP00000276066:G38R G + 1 0 RAB41 69418904 1.000000 0.71417 0.000000 0.03702 0.028000 0.11728 2.870000 0.48451 0.055000 0.16094 -0.208000 0.12717 GGA NOVEL RAB41-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000358983.1 1 13.543129 KEEP 0 0 0 45 1523 GG 1 1 0 + 125 60 4197 0 0 363.473464 328 60 11518 609 ENST00000276066.4 0.275938 1 PABPC1L2A 340529 __UNKNOWN__ __UNKNOWN__ X 72297662 72297662 __UNKNOWN__ 3'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:72297662C>G ENST00000373519.1 - 0 1689 NM_001012977.2 NP_001012995.1 Q5JQF8 PAP1M_HUMAN poly(A) binding protein, cytoplasmic 1-like 2A NA NA extracellular vesicular exosome (GO:0070062) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NA Renal(35;0.156) tctttactagctgcgctggcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041956 CCDS35334.1 Xq13.2 2013-02-12 2007-11-21 2007-11-21 ENSG00000186288 340529 RNA binding motif (RRM) containing 27989 protein-coding gene gene with protein product NA RNA binding motif protein 32A RBM32A NA 12477932 Standard NM_001012977 NM_001012977 NA Approved uc004ebg.2 Q5JQF8 ENST00000373519.1:c.*961G>C chrX.hg19:g.72297662C>G NA B2RMV9|Q8IVU8 hg19 CCDS35334.1 0.02 15.485774 TAGxTGC COVERED NOVEL PABPC1L2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057222.1 4 17.42999 KEEP 255 0 0 58 1995 CC 1 1 0 - 90 60 3105 0 0 261.862812 301 60 10891 804 ENST00000373519.1 0.230179 1 ATP7A 538 __UNKNOWN__ __UNKNOWN__ X 77303648 77303648 __UNKNOWN__ 3'UTR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:77303648A>G ENST00000341514.6 + 0 6239 ATP7A_ENST00000343533.5_3'UTR|ATP7A_ENST00000350425.4_3'UTR NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide NA NA blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570) basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140) ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526) GCTTGTTCCCATTGCCAAATG 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L06133 CCDS35339.1, CCDS75997.1 Xq21.1 2012-10-22 2008-07-31 ENSG00000165240 ENSG00000165240 538 3.6.3.4 ATPases / P-type 869 protein-coding gene gene with protein product copper pump 1, copper-transporting ATPase 1 300011 Menkes syndrome MNK NA 10079817 Standard NM_000052 NM_000052 NA Approved uc004ecx.4 Q04656 OTTHUMG00000021885 ENST00000341514.6:c.*1581A>G chrX.hg19:g.77303648A>G NA B1AT72|O00227|O00745|Q9BYY8 hg19 CCDS35339.1 0.02 8.786684 CCCxTTG COVERED NOVEL ATP7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057306.1 1 3.610016 KEEP 0 0 0 12 353 AA 0.993634 0.993634 0 + 60 60 2007 0 0 172.80697 164 60 5722 286 ENST00000341514.6 0.267857 1 TAF9B 51616 __UNKNOWN__ __UNKNOWN__ X 77395162 77395162 __UNKNOWN__ 5'UTR SNP G G C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:77395162G>C ENST00000341864.5 - 0 41 NM_015975.4 NP_057059.2 Q9HBM6 TAF9B_HUMAN TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa NA NA DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070) transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) transcription corepressor activity (GO:0003714) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 GAGCTCGCGGGCTCCTCGCTC 0.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 46 32 36 NA NA NA X NA NA 77395162 692 1591 2283 SO:0001623 5_prime_UTR_variant AF220509 CCDS35340.1 Xq13.1-q21.1 2010-08-16 2006-01-04 2006-01-04 ENSG00000187325 ENSG00000187325 51616 17306 protein-coding gene gene with protein product 300754 TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa TAF9L NA 15899866 Standard NM_015975 XM_005262142 NA Approved TAFII31L, DN-7, DN7, TFIID-31 uc004eda.3 Q9HBM6 OTTHUMG00000021887 ENST00000341864.5:c.-54C>G chrX.hg19:g.77395162G>C NA B2RUZ9|Q9Y2S3 hg19 CCDS35340.1 0.02 22.519367 CGGxCTC COVERED NOVEL TAF9B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057308.1 4 35.48264 KEEP 0 0 0 118 4020 GG 1 1 0 - 333 60 11449 0 0 1146.371306 209 60 7278 832 ENST00000341864.5 0.614391 1 KLHL4 56062 __UNKNOWN__ __UNKNOWN__ X 86923311 86923311 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:86923311C>A ENST00000373119.4 + 0 4079 KLHL4_ENST00000373114.4_Intron NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GCTTGCCAATCTTCCAGTAAC 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF284765 CCDS14456.1, CCDS14457.1 Xq21.3 2013-01-30 2013-01-30 ENSG00000102271 ENSG00000102271 56062 Kelch-like, BTB/POZ domain containing 6355 protein-coding gene gene with protein product 300348 kelch (Drosophila)-like 4, kelch-like 4 (Drosophila) NA 11401425 Standard NM_019117 NA Approved KIAA1687, DKELCHL, KHL4 uc004efa.2 Q9C0H6 OTTHUMG00000021946 ENST00000373119.4:c.*1777C>A chrX.hg19:g.86923311C>A NA B2RTW2|Q9Y3J5 hg19 CCDS14457.1 0.02 13.940784 AATxTTC COVERED NOVEL KLHL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057413.1 1 5.116015 KEEP 0 0 0 17 582 CC 0.999366 0.999366 0 + 50 60 1631 0 0 124.691179 300 60 10957 460 ENST00000373119.4 0.142857 1 KLHL4 56062 __UNKNOWN__ __UNKNOWN__ X 86923765 86923765 __UNKNOWN__ 3'UTR SNP C C G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:86923765C>G ENST00000373119.4 + 0 4533 KLHL4_ENST00000373114.4_Intron NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 tcatgtgatgctatgtgttac 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF284765 CCDS14456.1, CCDS14457.1 Xq21.3 2013-01-30 2013-01-30 ENSG00000102271 ENSG00000102271 56062 Kelch-like, BTB/POZ domain containing 6355 protein-coding gene gene with protein product 300348 kelch (Drosophila)-like 4, kelch-like 4 (Drosophila) NA 11401425 Standard NM_019117 NA Approved KIAA1687, DKELCHL, KHL4 uc004efa.2 Q9C0H6 OTTHUMG00000021946 ENST00000373119.4:c.*2231C>G chrX.hg19:g.86923765C>G NA B2RTW2|Q9Y3J5 hg19 CCDS14457.1 0.02 8.619437 ATGxTAT COVERED NOVEL KLHL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057413.1 2 5.115266 KEEP 0 0 0 17 580 CC 0.999366 0.999366 0 + 26 60 937 0 0 70.76574 206 60 7537 317 ENST00000373119.4 0.112069 1 KLHL4 56062 __UNKNOWN__ __UNKNOWN__ X 86923839 86923839 __UNKNOWN__ 3'UTR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:86923839C>T ENST00000373119.4 + 0 4607 KLHL4_ENST00000373114.4_Intron NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 ctctcaacctcagacttctca 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF284765 CCDS14456.1, CCDS14457.1 Xq21.3 2013-01-30 2013-01-30 ENSG00000102271 ENSG00000102271 56062 Kelch-like, BTB/POZ domain containing 6355 protein-coding gene gene with protein product 300348 kelch (Drosophila)-like 4, kelch-like 4 (Drosophila) NA 11401425 Standard NM_019117 NA Approved KIAA1687, DKELCHL, KHL4 uc004efa.2 Q9C0H6 OTTHUMG00000021946 ENST00000373119.4:c.*2305C>T chrX.hg19:g.86923839C>T NA B2RTW2|Q9Y3J5 hg19 CCDS14457.1 0.02 5.927236 CCTxAGA COVERED NOVEL KLHL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057413.1 1 3.611798 KEEP 0 0 0 12 423 CC 0.993634 0.993634 0 + 20 60 687 0 0 50.728413 165 60 5980 246 ENST00000373119.4 0.108108 1 KLHL4 56062 __UNKNOWN__ __UNKNOWN__ X 86923846 86923846 __UNKNOWN__ 3'UTR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:86923846C>A ENST00000373119.4 + 0 4614 KLHL4_ENST00000373114.4_Intron NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 cctcagacttctcagcctgcc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF284765 CCDS14456.1, CCDS14457.1 Xq21.3 2013-01-30 2013-01-30 ENSG00000102271 ENSG00000102271 56062 Kelch-like, BTB/POZ domain containing 6355 protein-coding gene gene with protein product 300348 kelch (Drosophila)-like 4, kelch-like 4 (Drosophila) NA 11401425 Standard NM_019117 NA Approved KIAA1687, DKELCHL, KHL4 uc004efa.2 Q9C0H6 OTTHUMG00000021946 ENST00000373119.4:c.*2312C>A chrX.hg19:g.86923846C>A NA B2RTW2|Q9Y3J5 hg19 CCDS14457.1 0.02 5.833432 CTTxTCA COVERED NOVEL KLHL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057413.1 2 3.6107 KEEP 0 0 0 12 412 CC 0.993634 0.993634 0 + 20 60 686 0 0 51.195934 154 60 5596 223 ENST00000373119.4 0.114943 1 DRP2 1821 __UNKNOWN__ __UNKNOWN__ X 100518818 100518818 __UNKNOWN__ 3'UTR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:100518818T>C ENST00000395209.3 + 0 6609 DRP2_ENST00000538510.1_3'UTR|DRP2_ENST00000541709.1_3'UTR|DRP2_ENST00000402866.1_3'UTR NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 NA NA central nervous system development (GO:0007417) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 TCCTAGGAGATGTTTTCCCTC 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U43519 CCDS14480.2, CCDS55465.1 Xq22 2008-02-05 ENSG00000102385 ENSG00000102385 1821 3032 protein-coding gene gene with protein product 300052 NA 8640231 Standard NM_001939 NM_001939 NA Approved uc004egz.2 Q13474 OTTHUMG00000022020 ENST00000395209.3:c.*3208T>C chrX.hg19:g.100518818T>C NA A6ZKI5|A8K1B0|B1B1F3|B4DIZ0 hg19 CCDS14480.2 0.02 4.157826 AGAxGTT COVERED NOVEL DRP2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000057522.3 3 3.309199 KEEP 0 0 0 11 329 TT 0.993072 0.993072 0 + 42 60 1378 0 0 120.82689 97 60 3319 184 ENST00000395209.3 0.302158 1 TCEAL3 85012 __UNKNOWN__ __UNKNOWN__ X 102864565 102864565 __UNKNOWN__ Silent SNP G G A rs74490974 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:102864565G>A ENST00000372628.1 + 3 931 c.573G>A c.(571-573)caG>caA p.Q191Q TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Silent_p.Q191Q|TCEAL3_ENST00000372627.5_Silent_p.Q191Q Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 191 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 GTAGGGGCCAGAGGGGCTTAC 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 130 122 125 NA NA NA X NA NA 102864565 2203 4300 6503 SO:0001819 synonymous_variant BC008703 CCDS14511.1 Xq22.2 2014-03-21 ENSG00000196507 ENSG00000196507 85012 28247 protein-coding gene gene with protein product NA NA 16221301 Standard NM_032926 NM_032926 NA Approved MGC15737, WEX8 uc004ekr.3 Q969E4 OTTHUMG00000022106 ENST00000372628.1:c.573G>A chrX.hg19:g.102864565G>A NA D3DXA4 hg19 CCDS14511.1 0.02 28.198863 CCAxAGG COVERED NOVEL TCEAL3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057737.1 9 29.843194 KEEP 1 5 141 149 5039 GG 1 1 0 + 78 52 2640 0 0 191.22545 700 60 25336 1157 ENST00000372628.1 0.100257 1 TMSB15B 286527 __UNKNOWN__ __UNKNOWN__ X 103186457 103186457 __UNKNOWN__ Intron SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:103186457C>T ENST00000419165.1 + 1 397 TMSB15B_ENST00000455723.1_3'UTR NM_194324.2 NP_919305.2 P0CG35 TB15B_HUMAN thymosin beta 15B NA NA actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) skin(1) 1 aaggttaagtcgatcaccagt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS59172.1 Xq22.2 2009-01-12 ENSG00000158427 ENSG00000158427 286527 28612 protein-coding gene gene with protein product NA NA 17567946 Standard NM_194324 NM_194324 NA Approved MGC39900 uc010noz.3 P0CG35 OTTHUMG00000022117 ENST00000419165.1:c.-721+12582C>T chrX.hg19:g.103186457C>T NA A8K614|Q99406 hg19 CCDS59172.1 0.02 1.979732 AGTxGAT COVERED NOVEL TMSB15B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057751.2 0 2.699066 KEEP 0 0 0 9 235 CC 0.99254 0.97682 0 + 4 49 132 0 0 8.822807 53 60 1712 82 ENST00000419165.1 0.070175 0.984161 AMOT 154796 __UNKNOWN__ __UNKNOWN__ X 112022724 112022724 __UNKNOWN__ Silent SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:112022724T>G ENST00000524145.1 - 11 2732 c.2658A>C c.(2656-2658)ccA>ccC p.P886P AMOT_ENST00000371959.3_Silent_p.P886P|AMOT_ENST00000304758.1_Silent_p.P477P|AMOT_ENST00000371962.1_Silent_p.P654P Q4VCS5 AMOT_HUMAN angiomotin 886 NA actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570) actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923) angiostatin binding (GO:0043532)|receptor activity (GO:0004872) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 cagcagcaactggagcaggaa 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 76 45 55 NA NA NA X NA NA 112022724 2202 4299 6501 SO:0001819 synonymous_variant AB028994 CCDS14563.1, CCDS48154.1 Xq23 2006-02-08 ENSG00000126016 ENSG00000126016 154796 17810 protein-coding gene gene with protein product 300410 NA 11257124, 16043488, 12406577 Standard NM_133265 NM_001113490 NA Approved KIAA1071 uc004epr.3 Q4VCS5 OTTHUMG00000022216 ENST00000524145.1:c.2658A>C chrX.hg19:g.112022724T>G NA Q504X5|Q9HD27|Q9UPT1 hg19 CCDS48154.1 0.02 6.584477 AACxGGA COVERED NOVEL AMOT-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378570.1 0 6.317717 KEEP 0 0 0 21 631 TT 0.999869 0.999869 0 - 48 60 1507 0 0 128.268169 132 60 4529 263 ENST00000524145.1 0.266667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 112242371 112242371 __UNKNOWN__ IGR SNP G G C rs5929511 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:112242371G>C NA NA RNU6-1015P (79913 upstream) : snoU13 (1875 downstream) NA NA NA catgaggtcaggagttcgaga 0.488 NA NA G||| 2156 0.571126 0.3865 0.4697 3775 , , NA 11475 0.4385 NA 0.4135 False NA ,,, NA NA NA 2504 0.4714 NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrX.hg19:g.112242371G>C NA hg19 0.02 -0.026315 TCAxGAG UNCOVERED NOVEL 0 4 3.009589 KEEP 0 0 0 10 333 GG 0.992708 0 0 3 60 99 0 0 11.330417 0 0 0 15 1 0 HTR2C 3358 __UNKNOWN__ __UNKNOWN__ X 113887152 113887152 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:113887152G>A ENST00000276198.1 + 2 649 HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Intron NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled NA NA behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246) agtatttgttgaaagaataaa 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 77 63 67 NA NA NA X NA NA 113887152 1568 3581 5149 SO:0001627 intron_variant CCDS14564.1, CCDS59174.1 Xq23 2013-12-19 2012-02-03 ENSG00000147246 ENSG00000147246 3358 5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only 5295 protein-coding gene gene with protein product 312861 5-hydroxytryptamine (serotonin) receptor 2C HTR1C NA 7895773 Standard NM_000868 NM_000868 NA Approved 5-HT2C, 5HTR2C uc004epu.1 P28335 OTTHUMG00000022226 ENST00000276198.1:c.-80+38813G>A chrX.hg19:g.113887152G>A NA B1AMW4|Q5VUF8|Q9NP28 hg19 CCDS14564.1 0.02 4.029329 GTTxAAA COVERED NOVEL HTR2C-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057962.1 4 2.708784 KEEP 0 0 0 9 313 GG 0.99254 0.992531 0 + 13 60 447 0 0 33.663163 95 60 3494 137 ENST00000276198.1 0.12037 0.999991 ARHGEF6 9459 __UNKNOWN__ __UNKNOWN__ X 135767786 135767786 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:135767786G>A ENST00000250617.6 - 12 2598 ARHGEF6_ENST00000370620.1_Intron|ARHGEF6_ENST00000370622.1_Intron|ARHGEF6_ENST00000535227.1_Intron NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) aaaaaaggaagaaaaaTACGA 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 50 50 NA NA NA X NA NA 135767786 2202 4300 6502 SO:0001627 intron_variant D13631 CCDS14660.1 Xq26 2013-01-10 2002-05-23 ENSG00000129675 ENSG00000129675 9459 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 685 protein-coding gene gene with protein product Rac/Cdc42 guanine exchange factor (GEF) 6, PAK-interacting exchange factor, alpha, rho guanine nucleotide exchange factor 6 300267 mental retardation, X-linked 46 MRX46 NA 7584048, 9659915 Standard NM_004840 NM_004840 NA Approved alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2 uc004fab.3 Q15052 OTTHUMG00000022518 ENST00000250617.6:c.1392+49C>T chrX.hg19:g.135767786G>A NA A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0 hg19 CCDS14660.1 0.02 0.780233 GAAxAAA COVERED NOVEL ARHGEF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058511.2 3 2.222029 KEEP 0 2 20 15 484 GG 0.999366 0.999366 0 - 23 60 296 0 0 14.38059 110 60 3057 199 ENST00000250617.6 0.172932 1 RBMX 27316 __UNKNOWN__ __UNKNOWN__ X 135955996 135955996 __UNKNOWN__ 3'UTR SNP G G A rs850 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:135955996G>A ENST00000320676.7 - 0 1635 RBMX_ENST00000431446.3_Intron|RBMX_ENST00000496459.2_5'UTR|RBMX_ENST00000570135.1_3'UTR NM_002139.3 NP_002130.2 P38159 RBMX_HUMAN RNA binding motif protein, X-linked NA NA cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530) chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TGCCTCATTTGCTGGGAAAAA 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14661.1, CCDS55510.1 Xq26 2013-05-23 2003-09-12 ENSG00000147274 ENSG00000147274 27316 RNA binding motif (RRM) containing 9910 protein-coding gene gene with protein product heterogeneous nuclear ribonucleoprotein G 300199 RNA binding motif protein, X chromosome NA 10391206, 10391207 Standard NM_002139 NM_002139 NA Approved RNMX, hnRNP-G, HNRNPG uc004fae.2 P38159 OTTHUMG00000022517 ENST00000320676.7:c.*305C>T chrX.hg19:g.135955996G>A NA B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3 hg19 CCDS14661.1 0.02 30.82551 TTTxCTG COVERED NOVEL RBMX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058507.1 6 25.583278 KEEP 4 0 0 85 2978 GG 1 1 0 - 66 50 2218 0 0 153.678173 753 60 27741 1120 ENST00000320676.7 0.080586 1 ATP11C 286410 __UNKNOWN__ __UNKNOWN__ X 138897139 138897139 __UNKNOWN__ Silent SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:138897139A>G ENST00000361648.2 - 5 431 c.333T>C c.(331-333)taT>taC p.Y111Y ATP11C_ENST00000370543.1_Silent_p.Y111Y|ATP11C_ENST00000359686.2_Silent_p.Y111Y|ATP11C_ENST00000327569.3_Silent_p.Y111Y|ATP11C_ENST00000370557.1_Silent_p.Y108Y NM_001010986.2 NP_001010986 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 111 NA ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) GACAATCCTCATATCCCTGAA 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 75 66 69 NA NA NA X NA NA 138897139 2202 4296 6498 SO:0001819 synonymous_variant AJ580094 CCDS14668.1, CCDS35410.1 Xq27.1 2011-06-09 2007-09-19 ENSG00000101974 ENSG00000101974 286410 ATPases / P-type 13554 protein-coding gene gene with protein product 300516 ATPase, Class VI, type 11C NA 11015572 Standard NM_173694 NM_173694 NA Approved ATPIG, ATPIQ uc004faz.3 Q8NB49 OTTHUMG00000022538 ENST00000361648.2:c.333T>C chrX.hg19:g.138897139A>G NA Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24 hg19 CCDS35410.1 0.02 1.994704 CTCxTAT COVERED NOVEL ATP11C-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354990.1 0 3.308315 KEEP 0 0 0 11 320 AA 0.993072 0.992188 0 - 28 60 1003 0 0 91.73946 49 60 1715 106 ENST00000361648.2 0.363636 0.99911 AFF2 2334 __UNKNOWN__ __UNKNOWN__ X 147582722 147582722 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:147582722G>T ENST00000370460.2 + 1 526 AFF2_ENST00000370458.1_Intron|AFF2_ENST00000342251.3_Intron|AFF2_ENST00000370457.5_Intron NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 NA NA brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380) nuclear speck (GO:0016607) G-quadruplex RNA binding (GO:0002151) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GAAGTCTGAGGTTTTCGCCTT 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 154 106 121 NA NA NA X NA NA 147582722 692 1591 2283 SO:0001627 intron_variant U48436 CCDS14684.1, CCDS55521.1, CCDS76040.1 Xq28 2008-02-05 2005-06-27 2005-06-27 ENSG00000155966 ENSG00000155966 2334 3776 protein-coding gene gene with protein product 300806 fragile X mental retardation 2 FMR2 NA Standard NM_002025 NM_002025 NA Approved FRAXE uc004fcp.3 P51816 OTTHUMG00000022613 ENST00000370460.2:c.47+58G>T chrX.hg19:g.147582722G>T NA A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5 hg19 CCDS14684.1 0.02 8.377808 GAGxTTT COVERED NOVEL AFF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000058673.2 0 7.21921 KEEP 0 0 0 24 800 GG 0.999909 0.999909 0 + 74 60 2528 0 0 222.489678 174 60 6084 305 ENST00000370460.2 0.298387 1 ZNF185 7739 __UNKNOWN__ __UNKNOWN__ X 152089350 152089350 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:152089350G>A ENST00000370270.2 + 9 653 ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000539731.1_Intron|ZNF185_ENST00000449285.2_Intron|ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000370268.4_Intron|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000535861.1_Intron O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) NA NA actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AAGGCCTTCCGTCAGCAGGGG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 47 33 37 NA NA NA X NA NA 152089350 692 1591 2283 SO:0001627 intron_variant AK056517 CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1 Xq28 2012-08-08 ENSG00000147394 ENSG00000147394 7739 Zinc fingers, C2H2-type 12976 protein-coding gene gene with protein product 300381 NA 9268636 Standard NM_007150 NM_001178106 NA Approved uc011myg.2 O15231 OTTHUMG00000024187 ENST00000370270.2:c.653+58G>A chrX.hg19:g.152089350G>A NA A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2 hg19 CCDS55529.1 0.02 10.125443 TCCxTCA COVERED NOVEL ZNF185-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000472688.1 0 6.859323 KEEP 0 0 0 23 733 GG 0.999892 0.999892 0 + 75 60 2574 0 0 224.766905 189 60 6469 348 ENST00000370270.2 0.284091 1 IRAK1 3654 __UNKNOWN__ __UNKNOWN__ X 153276823 153276823 __UNKNOWN__ 3'UTR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:153276823G>A ENST00000369974.2 - 0 2452 IRAK1_ENST00000369980.3_3'UTR|IRAK1_ENST00000393682.1_3'UTR|IRAK1_ENST00000477274.1_Intron NM_001025243.1 NP_001020414.1 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 NA NA activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ttacaggcgtgagccaccgca 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L76191 CCDS14740.1, CCDS35443.1, CCDS35444.1 Xq28 2011-07-08 ENSG00000184216 ENSG00000184216 3654 6112 protein-coding gene gene with protein product 300283 NA 9374458, 8599092 Standard XM_005274668 NA Approved IRAK, pelle uc004fjs.1 P51617 OTTHUMG00000024228 ENST00000369974.2:c.*487C>T chrX.hg19:g.153276823G>A NA D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2 hg19 CCDS35443.1 0.02 1.5293 CGTxAGC COVERED NOVEL IRAK1-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000061130.1 3 3.61171 KEEP 0 0 0 12 415 GG 0.993634 0.993582 0 - 14 60 443 0 0 33.537013 84 60 2939 126 ENST00000369974.2 0.142857 0.999948 IRAK1 3654 __UNKNOWN__ __UNKNOWN__ X 153281627 153281627 __UNKNOWN__ Intron SNP G G T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:153281627G>T ENST00000369974.2 - 10 1300 IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000369980.3_Intron|IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000477274.1_Intron NM_001025243.1 NP_001020414.1 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 NA NA activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GATTGGGCCTGACAAGGGTGT 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76191 CCDS14740.1, CCDS35443.1, CCDS35444.1 Xq28 2011-07-08 ENSG00000184216 ENSG00000184216 3654 6112 protein-coding gene gene with protein product 300283 NA 9374458, 8599092 Standard XM_005274668 NA Approved IRAK, pelle uc004fjs.1 P51617 OTTHUMG00000024228 ENST00000369974.2:c.1237-79C>A chrX.hg19:g.153281627G>T NA D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2 hg19 CCDS35443.1 0.02 5.781102 CCTxACA COVERED NOVEL IRAK1-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000061130.1 2 5.416995 KEEP 0 0 0 18 605 GG 0.999859 0.999859 0 - 12 60 405 0 0 27.033528 170 60 6074 266 ENST00000369974.2 0.065934 1 IRAK1 3654 __UNKNOWN__ __UNKNOWN__ X 153281639 153281639 __UNKNOWN__ Intron SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:153281639G>A ENST00000369974.2 - 10 1300 IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000369980.3_Intron|IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000477274.1_Intron NM_001025243.1 NP_001020414.1 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 NA NA activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAAGGGTGTGGAcaaaggcag 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76191 CCDS14740.1, CCDS35443.1, CCDS35444.1 Xq28 2011-07-08 ENSG00000184216 ENSG00000184216 3654 6112 protein-coding gene gene with protein product 300283 NA 9374458, 8599092 Standard XM_005274668 NA Approved IRAK, pelle uc004fjs.1 P51617 OTTHUMG00000024228 ENST00000369974.2:c.1237-91C>T chrX.hg19:g.153281639G>A NA D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2 hg19 CCDS35443.1 0.02 5.942405 GTGxACA COVERED NOVEL IRAK1-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000061130.1 2 4.810837 KEEP 0 0 0 16 523 GG 0.997832 0.997832 0 - 7 60 239 0 0 14.541988 165 60 5807 249 ENST00000369974.2 0.040698 1 IRAK1 3654 __UNKNOWN__ __UNKNOWN__ X 153285186 153285186 __UNKNOWN__ Silent SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrX:153285186G>A ENST00000369974.2 - 1 141 c.78C>T c.(76-78)gtC>gtT p.V26V IRAK1_ENST00000429936.2_Silent_p.V26V|IRAK1_ENST00000393687.2_Silent_p.V26V|IRAK1_ENST00000369980.3_Silent_p.V26V|IRAK1_ENST00000393682.1_Silent_p.V26V NM_001025243.1 NP_001020414.1 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 26 NA activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCGGCACATGACCCAGGGCG 0.781 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 4 4 NA NA NA X NA NA 153285186 1678 3168 4846 SO:0001819 synonymous_variant L76191 CCDS14740.1, CCDS35443.1, CCDS35444.1 Xq28 2011-07-08 ENSG00000184216 ENSG00000184216 3654 6112 protein-coding gene gene with protein product 300283 NA 9374458, 8599092 Standard XM_005274668 NA Approved IRAK, pelle uc004fjs.1 P51617 OTTHUMG00000024228 ENST00000369974.2:c.78C>T chrX.hg19:g.153285186G>A NA D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2 hg19 CCDS35443.1 0.02 7.789591 CATxACC COVERED NOVEL IRAK1-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000061130.1 0 13.844038 KEEP 0 0 0 46 1557 GG 1 1 0 - 37 60 1211 0 0 95.200331 187 60 6656 397 ENST00000369974.2 0.165179 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011052 10011052 __UNKNOWN__ IGR SNP A A G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:10011052A>G NA NA RNA5SP519 (80450 upstream) : AC010970.1 (22928 downstream) NA NA NA AAAGAGTTGTATTAAGTACAT 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.10011052A>G NA hg19 0.02 24.563471 TGTxTTA COVERED NOVEL 0 55 7.391118 KEEP 3 2 70 49 1495 AA 1 1 0 20 60 730 0 0 47.555133 404 60 13820 886 0.04717 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011709 10011709 __UNKNOWN__ IGR SNP G G A rs369849910 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:10011709G>A NA NA RNA5SP519 (81107 upstream) : AC010970.1 (22271 downstream) NA NA NA TCACAGTGAAGCGATGAAGCC 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.10011709G>A NA hg19 0.02 9.330855 GAAxCGA COVERED NOVEL 0 1 2.708753 KEEP 5 0 0 9 315 GG 0.99254 0.99254 0 8 48 275 0 0 19.807135 77 60 2665 307 0.094118 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011868 10011868 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:10011868T>C NA NA RNA5SP519 (81266 upstream) : AC010970.1 (22112 downstream) NA NA NA GTCTTGAAAATGTAGCATTTG 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.10011868T>C NA hg19 0.02 23.517732 AAAxGTA COVERED NOVEL 0 6 5.951363 KEEP 53 1 29 30 927 TT 0.999931 0.999931 0 42 49 1426 0 0 99.490125 473 60 16723 829 0.081553 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011960 10011960 __UNKNOWN__ IGR SNP T T C rs75651145 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:10011960T>C NA NA RNA5SP519 (81358 upstream) : AC010970.1 (22020 downstream) NA NA NA GTAACATAAATGATGTATTGA 0.269 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.10011960T>C NA hg19 0.02 10.498302 AAAxGAT COVERED NOVEL 0 4 3.008633 KEEP 0 0 0 10 300 TT 0.992708 0.992708 0 15 60 428 0 0 23.45276 333 60 11431 402 0.043103 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10012759 10012759 __UNKNOWN__ IGR SNP G G A rs111350878 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:10012759G>A NA NA RNA5SP519 (82157 upstream) : AC010970.1 (21221 downstream) NA NA NA GCAGAAGACTGCTTTTCTCTC 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.10012759G>A NA hg19 0.02 -0.385984 ACTxCTT COVERED NOVEL 0 8 3.2897 KEEP 6 0 0 11 315 GG 0.99257 0.911349 0 3 51 96 0 0 8.100827 9 50 332 78 0.25 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13141153 13141153 __UNKNOWN__ IGR SNP C C T LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:13141153C>T NA NA None (None upstream) : AC134878.2 (199205 downstream) NA NA NA cattccattccattccattcc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.13141153C>T NA hg19 0.02 1.681036 TTCxATT COVERED NOVEL 0 32 3.478745 KEEP 47 2 55 31 1066 CC 0.999892 0.984055 0 4 40 135 0 0 11.505368 12 54 397 147 0.25 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13314236 13314236 __UNKNOWN__ IGR SNP G G A rs75731131 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:13314236G>A NA NA None (None upstream) : AC134878.2 (26122 downstream) NA NA NA GTCTCCACATGGTCACGCACA 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.13314236G>A NA hg19 0.02 -0.219251 CATxGTC UNCOVERED NOVEL 0 1 3.009764 KEEP 12 0 0 10 347 GG 0 0 0 2 27 67 0 0 7.653852 0 0 0 49 1 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13446550 13446550 __UNKNOWN__ IGR SNP C C A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:13446550C>A NA NA AC134878.1 (105917 upstream) : SLC9B1P1 (49690 downstream) NA NA NA cattccattccattccattcc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.13446550C>A NA hg19 0.02 -0.350603 TTCxATT COVERED NOVEL 0 51 5.552473 KEEP 70 1 30 29 1006 CC 0.997832 0.875805 0 2 40 72 0 2 6.692768 3 60 112 185 0.4 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58975503 58975503 __UNKNOWN__ IGR SNP T T A rs28972676 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:58975503T>A NA NA None (None upstream) : SPRY3 (124976 downstream) NA NA NA attccattcctttccattcga 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.58975503T>A NA hg19 0.02 -0.175456 TCCxTTC COVERED NOVEL 0 4 2.708547 KEEP 1 0 0 9 296 TT 0.99254 0.384517 0 3 60 107 0 0 12.130973 0 0 0 36 1 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58976579 58976579 __UNKNOWN__ IGR SNP C C G rs10429811 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:58976579C>G NA NA None (None upstream) : SPRY3 (123900 downstream) NA NA NA ccattcctttctttcgacagg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.58976579C>G NA hg19 0.02 -0.184236 TTTxTTT UNCOVERED NOVEL 0 10 2.40755 KEEP 7 0 0 8 269 CC 0 0 0 3 60 111 0 0 10.725033 3 60 114 41 0.5 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58979044 58979044 __UNKNOWN__ IGR SNP T T G LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:58979044T>G NA NA None (None upstream) : SPRY3 (121435 downstream) NA NA NA tcaactcaattccactcccct 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.58979044T>G NA hg19 0.02 -0.140361 AATxCCA UNCOVERED NOVEL 0 7 2.406062 KEEP 6 0 0 8 230 TT 0 0 0 2 56 63 1 0 6.424139 1 60 32 33 0.666667 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58980721 58980721 __UNKNOWN__ IGR SNP A A T rs375654204 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:58980721A>T NA NA None (None upstream) : SPRY3 (119758 downstream) NA NA NA attccattccactccactcca 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.58980721A>T NA hg19 0.02 1.860208 TCCxCTC COVERED NOVEL 0 41 9.302366 KEEP 61 0 0 31 862 AA 0.99986 0.999419 0 3 60 102 1 0 9.332839 5 60 166 214 0.375 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58985191 58985191 __UNKNOWN__ IGR SNP A A T rs2527468 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:58985191A>T NA NA None (None upstream) : SPRY3 (115288 downstream) NA NA NA aggtgatgcaactcttctcta 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.58985191A>T NA hg19 0.02 1.707561 GCAxCTC COVERED NOVEL 0 67 3.042484 KEEP 72 1 31 21 661 AA 0.995343 0.995179 0 3 60 101 0 0 8.601914 9 42 290 251 0.25 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58993963 58993963 __UNKNOWN__ IGR SNP G G A LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:58993963G>A NA NA None (None upstream) : SPRY3 (106516 downstream) NA NA NA tggctacacggcattgtgaca 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.58993963G>A NA hg19 0.02 -0.263146 ACGxCAT COVERED NOVEL 0 28 4.813564 KEEP 30 0 0 16 555 GG 0.993634 0.689252 0 2 60 71 0 0 6.592794 3 60 103 104 0.4 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59002171 59002171 __UNKNOWN__ IGR SNP C C A rs6568350 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:59002171C>A NA NA None (None upstream) : SPRY3 (98308 downstream) NA NA NA GGCTCCTGTACAGAGAAGCGT 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.59002171C>A NA hg19 0.02 31.151045 GTAxAGA COVERED NOVEL 0 9 5.117859 KEEP 0 7 231 98 3399 CC 1 1 0 51 60 1783 0 0 136.494495 347 60 12457 1153 0.128141 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59004455 59004455 __UNKNOWN__ IGR SNP C C T rs76897194 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:59004455C>T NA NA None (None upstream) : SPRY3 (96024 downstream) NA NA NA agcaagactccatctccaaaa 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.59004455C>T NA hg19 0.02 -0.183977 CTCxATC COVERED NOVEL 0 10 2.24247 KEEP 1 1 33 19 653 CC 0.99986 0.423418 0 4 60 141 0 0 11.665557 16 60 538 51 0.2 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59022204 59022204 __UNKNOWN__ IGR SNP G G A rs2087953 byFrequency LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:59022204G>A NA NA None (None upstream) : SPRY3 (78275 downstream) NA NA NA ggaaggccaaggcaggaggtt 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.59022204G>A NA hg19 0.02 -0.122827 CAAxGCA COVERED NOVEL 0 3 2.407729 KEEP 0 0 0 8 271 GG 0.99257 0.194853 0 4 60 146 0 0 13.191243 8 60 299 28 0.333333 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59022389 59022389 __UNKNOWN__ IGR SNP T T C LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:59022389T>C NA NA None (None upstream) : SPRY3 (78090 downstream) NA NA NA gaggattggatcacttgagct 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.59022389T>C NA hg19 0.02 -0.359694 GGAxCAC COVERED NOVEL 0 5 6.618666 KEEP 0 0 0 22 663 TT 0.999879 0.888767 0 4 49 149 0 0 11.162107 36 60 1273 85 0.1 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59026553 59026553 __UNKNOWN__ IGR SNP G G A rs368585405 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:59026553G>A NA NA None (None upstream) : SPRY3 (73926 downstream) NA NA NA ttgggaggccgaggtgggaga 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.59026553G>A NA hg19 0.02 -0.307019 GCCxAGG COVERED NOVEL 0 6 4.21285 KEEP 0 0 0 14 445 GG 0.995343 0.796519 0 5 54 180 0 0 14.680678 23 60 776 58 0.178571 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59027211 59027211 __UNKNOWN__ IGR SNP A A G rs2527423 LTS-029_T LTS-029_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-029_1724-7_T LTS-029_1724-1AA_N g.chrY:59027211A>G NA NA None (None upstream) : SPRY3 (73268 downstream) NA NA NA aggcagaagaatagcttgaac 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chrY.hg19:g.59027211A>G NA hg19 0.02 -0.289484 AGAxTAG COVERED NOVEL 0 4 3.00831 KEEP 0 0 0 10 311 AA 0.992708 0.755338 0 11 60 412 0 0 37.692922 20 60 686 54 0.354839 0.760887 KLHL17 339451 __UNKNOWN__ __UNKNOWN__ 1 900483 900483 __UNKNOWN__ Missense_Mutation SNP G G A rs141880205 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:900483G>A ENST00000338591.3 + 12 1948 c.1841G>A c.(1840-1842)cGc>cAc p.R614H NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 614 Interaction with F-actin. {ECO:0000250}. NA actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TTCACCCGGCGCAGCAGTGTG 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G HIS/ARG 1,4403 2.1+/-5.4 0,1,2201 124 95 105 NA 1841 5.7 1 1 dbSNP_134 105 0,8600 0,0,4300 no missense KLHL17 NM_198317.2 29 0,1,6501 AA,AG,GG NA 0.0,0.0227,0.0077 probably-damaging 614/643 900483 1,13003 2202 4300 6502 SO:0001583 missense AY423763 CCDS30550.1 1p36 2013-01-30 2013-01-30 ENSG00000187961 ENSG00000187961 339451 Kelch-like, BTB/POZ domain containing 24023 protein-coding gene gene with protein product actinfilin kelch-like 17 (Drosophila) NA 12063253 Standard NM_198317 NM_198317 NA Approved uc001aca.2 Q6TDP4 OTTHUMG00000040721 ENST00000338591.3:c.1841G>A chr1.hg19:g.900483G>A ENSP00000343930:p.Arg614His NA Q5SV94 hg19 CCDS30550.1 0.02 4.258383 GGCxCAG COVERED . . . . . . . . . . G 24.3 4.515578 0.85389 2.27E-4 0.0 ENSG00000187961 ENST00000338591;ENST00000455747 T 0.78924 -1.22 5.67 5.67 0.87782 Galactose oxidase, beta-propeller (1); 0.054625 0.85682 D 0.000000 T 0.64886 0.2639 N 0.08118 0 0.80722 D 1 D 0.61080 0.989 B 0.42188 0.379 T 0.73375 -0.4002 10 0.66056 D 0.02 . 19.7626 0.96329 0.0:0.0:1.0:0.0 . 614 Q6TDP4 KLH17_HUMAN H 614;490 ENSP00000343930:R614H ENSP00000343930:R614H R + 2 0 KLHL17 890346 1.000000 0.71417 1.000000 0.80357 0.287000 0.27160 8.971000 0.93419 2.676000 0.91093 0.561000 0.74099 CGC NOVEL KLHL17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097875.3 0 31.220429 KEEP 0 1 26 113 3866 GG 1 1 0 + 8 60 220 0 0 11.816271 164 60 5336 385 ENST00000338591.3 0.046512 1 CPSF3L 54973 __UNKNOWN__ __UNKNOWN__ 1 1258824 1258824 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1258824A>G ENST00000435064.1 - 1 111 CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000545578.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000411962.1_Intron NM_001256460.1|NM_017871.5 NP_001243389.1|NP_060341.2 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like NA NA snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) ttttgctgtcacccaggctgg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136813 CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1 1p36.33 2008-02-05 ENSG00000127054 ENSG00000127054 54973 26052 protein-coding gene gene with protein product integrator complex subunit 11 611354 NA 15684398, 16239144 Standard NM_017871 NM_001256456 NA Approved FLJ20542, RC-68, CPSF73L, INT11, INTS11 uc001aee.2 Q5TA45 OTTHUMG00000003330 ENST00000435064.1:c.28+1136T>C chr1.hg19:g.1258824A>G NA A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 hg19 CCDS21.1 0.02 -0.210414 GTCxCCC COVERED NOVEL CPSF3L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009360.2 1 6.314081 KEEP 0 0 0 21 590 AA 0.999869 0.522093 0 - 3 60 87 0 1 6.331016 19 60 528 49 ENST00000435064.1 0.136364 0.522161 DVL1 1855 __UNKNOWN__ __UNKNOWN__ 1 1275264 1275264 __UNKNOWN__ Intron SNP A A G rs59153307|rs12037363 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1275264A>G ENST00000378888.5 - 9 1194 DVL1_ENST00000378891.5_Intron O14640 DVL1_HUMAN dishevelled segment polarity protein 1 NA NA axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365) endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGACCCACCCACAGCCGCATG 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF006011 CCDS22.1 1p36 2013-05-22 2013-05-22 ENSG00000107404 ENSG00000107404 1855 Dishevelled homologs 3084 protein-coding gene gene with protein product 601365 dishevelled 1 (homologous to Drosophila dsh), dishevelled, dsh homolog 1 (Drosophila) NA 8817329 Standard NM_004421 NM_004421 NA Approved uc001aer.4 O14640 OTTHUMG00000003069 ENST00000378888.5:c.910-72T>C chr1.hg19:g.1275264A>G NA Q5TA33|Q5TA35 hg19 0.02 -0.39442 CCCxCAG COVERED NOVEL DVL1-004 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000008490.1 0 3.640634 KEEP 0 1 40 26 727 AA 0.999988 0.926628 0 - 4 60 103 0 0 6.374329 41 60 1105 82 ENST00000378888.5 0.088889 0.92664 MRPL20 55052 __UNKNOWN__ __UNKNOWN__ 1 1341097 1341097 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1341097T>G ENST00000344843.7 - 3 372 MRPL20_ENST00000482352.1_Missense_Mutation_p.N123T|MRPL20_ENST00000493287.1_Intron|RN7SL657P_ENST00000582431.1_RNA NM_017971.3 NP_060441.2 Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761) poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) agcctcctgattagctgggac 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB049644 CCDS26.1 1p36.3-p36.2 2012-09-13 ENSG00000242485 ENSG00000242485 55052 Mitochondrial ribosomal proteins / large subunits 14478 protein-coding gene gene with protein product 611833 NA Standard NM_017971 NM_017971 NA Approved FLJ10024 uc001afo.4 Q9BYC9 OTTHUMG00000002916 ENST00000344843.7:c.276+91A>C chr1.hg19:g.1341097T>G NA B2RE41|B7Z746 hg19 CCDS26.1 0.02 -0.385656 TGAxTAG COVERED NOVEL MRPL20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008139.1 3 2.71076 KEEP 0 3 103 45 1372 TT 1 0.918171 0 - 4 60 131 0 0 9.321215 37 60 1030 113 ENST00000344843.7 0.097561 0.918171 ATAD3C 219293 __UNKNOWN__ __UNKNOWN__ 1 1404976 1404976 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1404976C>G ENST00000378785.2 + 0 3297 NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C NA NA ATP binding (GO:0005524) autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ggctggtctccaactcctggg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091918 CCDS44039.1 1p36.33 2010-04-21 2007-02-08 ENSG00000215915 ENSG00000215915 219293 ATPases / AAA-type 32151 protein-coding gene gene with protein product NA Standard NM_001039211 NM_001039211 NA Approved FLJ34599 uc001aft.2 Q5T2N8 OTTHUMG00000000531 ENST00000378785.2:c.*1066C>G chr1.hg19:g.1404976C>G NA Q8N1Z5 hg19 CCDS44039.1 0.02 -0.166672 CTCxAAC COVERED NOVEL ATAD3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001279.3 3 4.514622 KEEP 0 0 0 15 518 CC 0.99649 0.421991 0 + 4 60 128 0 1 10.680803 13 60 421 41 ENST00000378785.2 0.235294 0.423478 SSU72 29101 __UNKNOWN__ __UNKNOWN__ 1 1479985 1479985 __UNKNOWN__ Intron SNP C C A rs552071003 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1479985C>A ENST00000291386.3 - 3 676 NM_014188.2 NP_054907.1 Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) NA NA dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378) cytoplasm (GO:0005737)|nucleus (GO:0005634) CTD phosphatase activity (GO:0008420) large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) cgacagagcacgactctgtct 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ276409 CCDS32.1 1p36 2010-03-24 2006-04-04 ENSG00000160075 ENSG00000160075 29101 25016 protein-coding gene gene with protein product Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) NA 15125841, 15659578 Standard NM_014188 NM_014188 NA Approved HSPC182 uc001agd.3 Q9NP77 OTTHUMG00000000576 ENST00000291386.3:c.364+257G>T chr1.hg19:g.1479985C>A NA Q9BZS6|Q9H933 hg19 CCDS32.1 0.02 2.885761 GCAxGAC COVERED NOVEL SSU72-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001366.1 20 10.43508 KEEP 1 3 98 69 2341 CC 1 1 0 - 8 60 241 0 1 15.44518 103 60 3406 268 ENST00000291386.3 0.072072 1 MIB2 142678 __UNKNOWN__ __UNKNOWN__ 1 1562150 1562150 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1562150A>C ENST00000505820.2 + 9 1439 MIB2_ENST00000378708.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000520777.1_Intron|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000504599.1_Intron|MIB2_ENST00000360522.4_Intron|MIB2_ENST00000378710.3_Intron|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000357210.4_Intron Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 NA NA Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCCCCCTGCCACCCCCGCCGC 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 13 16 15 NA NA NA 1 NA NA 1562150 1872 4078 5950 SO:0001627 intron_variant AK097106 CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1 1p36.33 2013-01-10 2012-02-23 2005-04-01 ENSG00000197530 ENSG00000197530 142678 Zinc fingers, ZZ-type, Ankyrin repeat domain containing 30577 protein-coding gene gene with protein product 611141 zinc finger, ZZ type with ankyrin repeat domain 1, mindbomb homolog 2 (Drosophila) ZZANK1 NA 12761501 Standard NM_080875 NM_080875 NA Approved skeletrophin, ZZZ5, FLJ39787 uc001agg.3 Q96AX9 OTTHUMG00000074647 ENST00000505820.2:c.1422+16A>C chr1.hg19:g.1562150A>C NA A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1 hg19 CCDS41224.2 0.02 0.929478 GCCxCCC COVERED NOVEL MIB2-016 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000365928.2 0 8.504466 KEEP 0 3 44 44 1314 AA 1 0.999768 0 + 16 60 234 0 0 13.154015 72 60 1891 184 ENST00000505820.2 0.181818 0.999768 RP11-345P4.10 0 __UNKNOWN__ __UNKNOWN__ 1 1591058 1591058 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1591058T>C ENST00000607013.1 + 0 128 NA NA NA gccgcccaggttggagtgcag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000607013.1: chr1.hg19:g.1591058T>C NA hg19 0.02 -0.429767 AGGxTGG COVERED NOVEL RP11-345P4.10-001 KNOWN basic antisense NA antisense OTTHUMT00000470901.1 11 20.161844 KEEP 30 0 0 67 2189 TT 1 0.954491 0 + 3 40 106 0 0 7.246558 42 60 1250 174 ENST00000607013.1 0.066667 0.954491 SLC35E2B 728661 __UNKNOWN__ __UNKNOWN__ 1 1595739 1595739 __UNKNOWN__ 3'UTR SNP T T C rs201191342 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1595739T>C ENST00000378662.1 - 0 3460 SLC35E2B_ENST00000234800.6_3'UTR P0CK96 S352B_HUMAN solute carrier family 35, member E2B NA NA integral component of membrane (GO:0016021) kidney(1)|lung(1) 2 TGTTTCTGAATGATTTTATCT 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS44041.1 1p36.33 2013-05-22 ENSG00000189339 ENSG00000189339 728661 Solute carriers 33941 protein-coding gene gene with protein product NA Standard XM_006710870 NA Approved uc001ahg.4 P0CK96 OTTHUMG00000078639 ENST00000378662.1:c.*1482A>G chr1.hg19:g.1595739T>C NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8 hg19 CCDS44041.1 0.02 1.365306 GAAxGAT COVERED NOVEL SLC35E2B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171589.1 6 18.159449 KEEP 9 6 202 131 4042 TT 1 0.999907 0 - 7 45 211 0 0 13.666735 86 60 2466 309 ENST00000378662.1 0.075269 0.999907 SLC35E2B 728661 __UNKNOWN__ __UNKNOWN__ 1 1595856 1595856 __UNKNOWN__ 3'UTR SNP A A G rs199846995 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1595856A>G ENST00000378662.1 - 0 3343 SLC35E2B_ENST00000234800.6_3'UTR P0CK96 S352B_HUMAN solute carrier family 35, member E2B NA NA integral component of membrane (GO:0016021) kidney(1)|lung(1) 2 AATGAGACTCAGGACCACTGG 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS44041.1 1p36.33 2013-05-22 ENSG00000189339 ENSG00000189339 728661 Solute carriers 33941 protein-coding gene gene with protein product NA Standard XM_006710870 NA Approved uc001ahg.4 P0CK96 OTTHUMG00000078639 ENST00000378662.1:c.*1365T>C chr1.hg19:g.1595856A>G NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8 hg19 CCDS44041.1 0.02 1.581717 CTCxGGA COVERED NOVEL SLC35E2B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171589.1 0 14.310117 KEEP 9 2 58 68 2135 AA 1 0.999881 0 - 5 45 166 0 0 10.557483 87 60 2585 211 ENST00000378662.1 0.054348 0.999881 SLC35E2 9906 __UNKNOWN__ __UNKNOWN__ 1 1656347 1656347 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1656347T>C ENST00000355439.2 - 0 2007 RP1-283E3.8_ENST00000598846.1_RNA|RP1-283E3.4_ENST00000417099.1_RNA NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) gccgcccaggttggagtgcag 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007916 CCDS33.1, CCDS55560.1 1p36.33 2013-05-22 ENSG00000215790 ENSG00000215790 9906 Solute carriers 20863 protein-coding gene gene with protein product NA Standard XM_049733 NM_182838 NA Approved KIAA0447 uc001aia.2 P0CK97 OTTHUMG00000000823 ENST00000355439.2:c.*506A>G chr1.hg19:g.1656347T>C NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 hg19 CCDS55560.1 0.02 2.044801 AGGxTGG COVERED NOVEL SLC35E2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100204.2 12 12.600939 KEEP 26 2 75 68 2172 TT 1 0.990964 0 - 5 46 154 0 0 10.471616 53 60 1555 185 ENST00000355439.2 0.086207 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 1903570 1903570 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:1903570T>A NA NA TMEM52 (52858 upstream) : C1orf222 (15992 downstream) NA NA NA cccaggctggtgtgcagtggt 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 55 54 NA NA NA 1 NA NA 1903570 2073 4192 6265 SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.1903570T>A NA hg19 0.02 1.403487 TGGxGTG COVERED NOVEL 0 7 11.56886 KEEP 1 1 27 48 1529 TT 1 0.995687 0 5 60 149 0 0 9.781196 56 60 1670 146 0.081967 0.995687 TPRG1L 127262 __UNKNOWN__ __UNKNOWN__ 1 3546044 3546044 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:3546044T>C ENST00000378344.2 + 0 1767 TPRG1L_ENST00000344579.5_3'UTR NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like NA NA cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) aatcccagcattttgggaggc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC019034 CCDS47.1 1p36.32 2008-02-05 2008-01-16 2008-01-16 ENSG00000158109 ENSG00000158109 127262 27007 protein-coding gene gene with protein product 611460 family with sequence similarity 79, member A FAM79A NA 12477932 Standard NM_182752 NM_182752 NA Approved RP11-46F15.3, FLJ21811 uc001akm.3 Q5T0D9 OTTHUMG00000000609 ENST00000378344.2:c.*877T>C chr1.hg19:g.3546044T>C NA A8K1K4|Q8WV04 hg19 CCDS47.1 0.02 -0.341988 GCAxTTT COVERED NOVEL TPRG1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001466.1 3 4.347962 KEEP 0 1 39 28 866 TT 0.999997 0.865743 0 + 4 60 118 0 0 8.114609 35 60 995 88 ENST00000378344.2 0.102564 0.865745 WRAP73 49856 __UNKNOWN__ __UNKNOWN__ 1 3548113 3548113 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:3548113G>A ENST00000270708.7 - 11 1230 c.1157C>T c.(1156-1158)cCg>cTg p.P386L WRAP73_ENST00000378322.3_Missense_Mutation_p.P386L NM_017818.3 NP_060288.3 Q9P2S5 WRP73_HUMAN WD repeat containing, antisense to TP73 386 NA centrosome (GO:0005813)|cytoplasm (GO:0005737) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 GGCCAGCCGCGGCTGCTGCGG 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 24 23 NA NA NA 1 NA NA 3548113 2195 4293 6488 SO:0001583 missense AB034912, EF494669 CCDS48.1 1p36.3 2013-05-21 2011-04-13 2011-04-13 ENSG00000116213 ENSG00000116213 49856 WD repeat domain containing 12759 protein-coding gene gene with protein product 606040 WD repeat domain 8 WDR8 NA Standard NM_017818 NA Approved uc001ako.3 Q9P2S5 OTTHUMG00000000612 ENST00000270708.7:c.1157C>T chr1.hg19:g.3548113G>A ENSP00000270708:p.Pro386Leu NA Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56 hg19 CCDS48.1 0.02 0.916355 CGCxGCT COVERED . . . . . . . . . . G 19.96 3.923731 0.73213 . . ENSG00000116213 ENST00000270708;ENST00000378322 T;T 0.05580 3.42;3.42 5.46 5.46 0.80206 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.154403 0.64402 D 0.000014 T 0.11793 0.0287 M 0.80422 2.495 0.80722 D 1 B 0.34061 0.436 B 0.24541 0.054 T 0.02417 -1.1162 10 0.45353 T 0.12 -24.8072 18.2801 0.90096 0.0:0.0:1.0:0.0 . 386 Q9P2S5 WRP73_HUMAN L 386 ENSP00000270708:P386L;ENSP00000367573:P386L ENSP00000270708:P386L P - 2 0 WRAP73 3537973 1.000000 0.71417 0.936000 0.37596 0.688000 0.40055 9.047000 0.93823 2.561000 0.86390 0.655000 0.94253 CCG NOVEL WRAP73-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001470.1 0 17.740441 KEEP 0 0 0 59 1973 GG 1 0.999962 0 - 6 60 173 0 0 10.321059 94 60 3099 211 ENST00000270708.7 0.06 0.999962 TP73 7161 __UNKNOWN__ __UNKNOWN__ 1 3643686 3643686 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:3643686C>T ENST00000378295.4 + 7 895 c.740C>T c.(739-741)aCg>aTg p.T247M TP73_ENST00000378285.1_Missense_Mutation_p.T198M|TP73_ENST00000354437.4_Missense_Mutation_p.T247M|TP73_ENST00000378280.1_Missense_Mutation_p.T198M|TP73_ENST00000604074.1_Missense_Mutation_p.T247M|TP73_ENST00000378288.4_Missense_Mutation_p.T198M|TP73_ENST00000346387.4_Missense_Mutation_p.T247M|TP73_ENST00000357733.3_Missense_Mutation_p.T247M|TP73_ENST00000378290.4_Missense_Mutation_p.T176M|TP73_ENST00000603362.1_Missense_Mutation_p.T247M|TP73_ENST00000604479.1_Missense_Mutation_p.T247M NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 247 DNA-binding. {ECO:0000255}. NA activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CAGGTGGGGACGGAATTCACC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 77 62 67 NA NA NA 1 NA NA 3643686 2197 4295 6492 SO:0001583 missense AB055065 CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1 1p36.3 2010-06-15 ENSG00000078900 ENSG00000078900 7161 12003 protein-coding gene gene with protein product 601990 NA 9296498, 9288759 Standard NM_005427 NM_001204186 NA Approved P73 uc001akp.3 O15350 OTTHUMG00000000610 ENST00000378295.4:c.740C>T chr1.hg19:g.3643686C>T ENSP00000367545:p.Thr247Met NA B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8 hg19 CCDS49.1 0.02 1.38029 GGAxGGA COVERED . . . . . . . . . . C 15.40 2.822880 0.50739 . . ENSG00000078900 ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290 D;D;D;D;D;D;D;D 0.99791 -6.76;-6.76;-6.76;-6.76;-6.76;-6.76;-6.76;-6.76 3.78 2.8 0.32819 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.110120 0.64402 D 0.000008 D 0.99423 0.9796 L 0.51914 1.62 0.80722 D 1 D;D;D;D;D;D 0.76494 0.973;0.999;0.987;0.994;0.995;0.982 B;P;B;P;P;P 0.61800 0.343;0.894;0.395;0.473;0.636;0.696 D 0.97436 1.0018 10 0.49607 T 0.09 -14.2868 12.3831 0.55317 0.0:0.8305:0.1695:0.0 . 198;198;198;198;247;247 B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350 .;.;.;.;.;P73_HUMAN M 247;247;247;247;198;198;198;176 ENSP00000367545:T247M;ENSP00000346423:T247M;ENSP00000350366:T247M;ENSP00000340740:T247M;ENSP00000367537:T198M;ENSP00000367534:T198M;ENSP00000367529:T198M;ENSP00000367539:T176M ENSP00000340740:T247M T + 2 0 TP73 3633546 1.000000 0.71417 0.992000 0.48379 0.917000 0.54804 5.586000 0.67503 1.947000 0.56498 0.472000 0.43445 ACG NOVEL TP73-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001468.4 1 26.481261 KEEP 0 0 0 88 2915 CC 1 0.999317 0 + 50 60 1457 0 0 146.161497 31 60 964 228 ENST00000378295.4 0.617284 0.999317 C1orf174 339448 __UNKNOWN__ __UNKNOWN__ 1 3805996 3805996 __UNKNOWN__ 3'UTR SNP G G A rs533680232 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:3805996G>A ENST00000361605.3 - 0 1358 C1orf174_ENST00000486765.1_5'UTR NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 NA NA nucleus (GO:0005634) endometrium(1)|large_intestine(5)|lung(4)|prostate(1) 11 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) atggtggctcgcgcctgtaat 0.562 NA A||| 15 0.00299521 8e-04 0 5008 , , NA 15578 0 NA 0 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC035643 CCDS53.1 1p36.32 2012-07-25 ENSG00000198912 ENSG00000198912 339448 27915 protein-coding gene gene with protein product NA 12477932 Standard NM_207356 NM_207356 NA Approved RP13-531C17.2 uc001alf.3 Q8IYL3 OTTHUMG00000003739 ENST00000361605.3:c.*528C>T chr1.hg19:g.3805996G>A NA A8K0C8|A8MUG9|Q5SR20|Q6NX36 hg19 CCDS53.1 0.02 -0.350857 CTCxCGC COVERED NOVEL C1orf174-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010539.1 3 8.4271 KEEP 0 0 0 28 983 GG 0.999997 0.877705 0 - 4 60 118 0 0 8.310272 31 60 1007 88 ENST00000361605.3 0.114286 0.877708 NOL9 79707 __UNKNOWN__ __UNKNOWN__ 1 6585327 6585327 __UNKNOWN__ 3'UTR SNP A A G rs144461755 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:6585327A>G ENST00000377705.5 - 0 2728 NM_024654.4 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 NA NA maturation of 5.8S rRNA (GO:0000460) membrane (GO:0016020)|nucleolus (GO:0005730) ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) ccaaagtgctaggattacagg 0.502 NA A||| 36 0.0071885 0.0242 0.0029 5008 , , NA 16430 0 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091284 CCDS80.1 1p36.31 2012-05-02 ENSG00000162408 ENSG00000162408 79707 26265 protein-coding gene gene with protein product polynucleotide 5'-kinase NA 21063389 Standard NM_024654 NM_024654 NA Approved FLJ23323, NET6, Grc3 uc001ans.3 Q5SY16 OTTHUMG00000000904 ENST00000377705.5:c.*587T>C chr1.hg19:g.6585327A>G NA Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4 hg19 CCDS80.1 0.02 -0.315429 GCTxGGA COVERED NOVEL NOL9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000002625.1 5 4.464129 KEEP 0 0 0 15 408 AA 0.99649 0.815592 0 - 3 70 105 0 0 7.488155 32 60 874 65 ENST00000377705.5 0.085714 0.818465 KLHL21 9903 __UNKNOWN__ __UNKNOWN__ 1 6654500 6654500 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:6654500T>C ENST00000377658.4 - 4 1552 KLHL21_ENST00000463043.1_Intron|KLHL21_ENST00000467612.1_Intron|KLHL21_ENST00000377663.3_3'UTR NM_014851.2 NP_055666.2 Q9UJP4 KLH21_HUMAN kelch-like family member 21 NA NA chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465) Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) tggtggctcatgcctgtaatc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK090472 CCDS30575.1 1p36 2013-01-30 2013-01-30 ENSG00000162413 ENSG00000162413 9903 Kelch-like, BTB/POZ domain containing 29041 protein-coding gene gene with protein product kelch-like 21 (Drosophila) NA Standard NM_014851 XM_005263542 NA Approved KIAA0469 uc001aoa.3 Q9UJP4 OTTHUMG00000001437 ENST00000377658.4:c.1501-782A>G chr1.hg19:g.6654500T>C NA B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10 hg19 CCDS30575.1 0.02 -0.420617 TCAxGCC COVERED NOVEL KLHL21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004188.1 9 8.360438 KEEP 0 1 35 40 1266 TT 1 0.948402 0 - 4 60 114 0 0 7.5423 41 60 1210 115 ENST00000377658.4 0.088889 0.948402 KLHL21 9903 __UNKNOWN__ __UNKNOWN__ 1 6654672 6654672 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:6654672G>A ENST00000377658.4 - 3 1552 KLHL21_ENST00000463043.1_Intron|KLHL21_ENST00000467612.1_Intron|KLHL21_ENST00000377663.3_3'UTR NM_014851.2 NP_055666.2 Q9UJP4 KLH21_HUMAN kelch-like family member 21 NA NA chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465) Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) aggttgaggcgggagaatggc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK090472 CCDS30575.1 1p36 2013-01-30 2013-01-30 ENSG00000162413 ENSG00000162413 9903 Kelch-like, BTB/POZ domain containing 29041 protein-coding gene gene with protein product kelch-like 21 (Drosophila) NA Standard NM_014851 XM_005263542 NA Approved KIAA0469 uc001aoa.3 Q9UJP4 OTTHUMG00000001437 ENST00000377658.4:c.1500+872C>T chr1.hg19:g.6654672G>A NA B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10 hg19 CCDS30575.1 0.02 -0.429717 GGCxGGA COVERED NOVEL KLHL21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004188.1 2 8.72516 KEEP 0 3 85 59 1872 GG 1 0.954491 0 - 5 60 137 0 0 9.276605 40 60 1203 119 ENST00000377658.4 0.111111 0.954491 KLHL21 9903 __UNKNOWN__ __UNKNOWN__ 1 6655110 6655110 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:6655110C>T ENST00000377658.4 - 3 1552 KLHL21_ENST00000463043.1_Intron|KLHL21_ENST00000467612.1_Intron|KLHL21_ENST00000377663.3_3'UTR NM_014851.2 NP_055666.2 Q9UJP4 KLH21_HUMAN kelch-like family member 21 NA NA chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465) Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) agagcaagaccctgtctcaaa 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK090472 CCDS30575.1 1p36 2013-01-30 2013-01-30 ENSG00000162413 ENSG00000162413 9903 Kelch-like, BTB/POZ domain containing 29041 protein-coding gene gene with protein product kelch-like 21 (Drosophila) NA Standard NM_014851 XM_005263542 NA Approved KIAA0469 uc001aoa.3 Q9UJP4 OTTHUMG00000001437 ENST00000377658.4:c.1500+434G>A chr1.hg19:g.6655110C>T NA B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10 hg19 CCDS30575.1 0.02 1.315659 GACxCTG COVERED NOVEL KLHL21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004188.1 11 8.19326 KEEP 2 2 59 48 1645 CC 1 0.998993 0 - 5 60 150 2 0 9.669015 62 60 2061 168 ENST00000377658.4 0.074627 0.998993 RERE 473 __UNKNOWN__ __UNKNOWN__ 1 8486264 8486264 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:8486264T>C ENST00000337907.3 - 13 1838 RERE_ENST00000400908.2_Intron|RERE_ENST00000377464.1_Intron|RP5-1115A15.1_ENST00000449895.1_RNA|RERE_ENST00000400907.2_Intron|RP5-1115A15.1_ENST00000444276.1_RNA NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats NA NA chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) cctgtaatcctagcactttgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF016005 CCDS95.1, CCDS41243.1 1p36.23 2013-01-25 ENSG00000142599 ENSG00000142599 473 GATA zinc finger domain containing 9965 protein-coding gene gene with protein product 605226 ATN1L NA 10814707, 10729226 Standard NM_012102 NA Approved KIAA0458, ARP, ARG, DNB1 uc001apf.3 Q9P2R6 OTTHUMG00000001765 ENST00000337907.3:c.1204-3397A>G chr1.hg19:g.8486264T>C NA O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 hg19 CCDS95.1 0.02 -0.131562 TCCxAGC COVERED NOVEL RERE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004916.1 3 2.708046 KEEP 0 0 0 9 276 TT 0.99254 0.227464 0 - 4 60 134 0 0 11.824306 9 60 262 35 ENST00000337907.3 0.307692 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 8952835 8952835 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:8952835T>C NA NA RNU6-304P (9243 upstream) : CA6 (53091 downstream) NA NA NA gcctgtaatctcagcactttg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.8952835T>C NA hg19 0.02 -0.271908 ATCxCAG COVERED NOVEL 0 6 3.009182 KEEP 0 0 0 10 316 TT 0.992708 0.712085 0 3 60 102 0 0 7.542327 24 60 726 54 0.111111 0.717315 GPR157 80045 __UNKNOWN__ __UNKNOWN__ 1 9161197 9161197 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:9161197T>C ENST00000377411.4 - 0 4431 NM_024980.4 NP_079256.4 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) lung(4)|prostate(1) 5 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) acctctgccttctgggttcaa 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022194 CCDS100.2 1p36.22 2012-08-21 ENSG00000180758 ENSG00000180758 80045 GPCR / Class B : Orphans 23687 protein-coding gene gene with protein product NA 10574461 Standard NM_024980 XM_005263496 NA Approved FLJ12132 uc001apq.1 Q5UAW9 OTTHUMG00000001758 ENST00000377411.4:c.*3281A>G chr1.hg19:g.9161197T>C NA A2A334|Q8WWB8|Q9HA73 hg19 CCDS100.2 0.02 1.715995 CCTxCTG COVERED NOVEL GPR157-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000127658.2 4 3.024593 KEEP 0 4 134 57 1741 TT 1 0.976865 0 - 5 60 148 0 1 10.374305 40 60 1177 122 ENST00000377411.4 0.111111 0.976865 H6PD 9563 __UNKNOWN__ __UNKNOWN__ 1 9330740 9330740 __UNKNOWN__ 3'UTR SNP G G C rs12144045 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:9330740G>C ENST00000377403.2 + 0 8490 H6PD_ENST00000495451.1_Intron NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) NA NA pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) 6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) TGTTGCAGGAGAACTAGACGG 0.602 NA G||| 832 0.166134 0.0794 0.1628 5008 , , NA 16829 0.1796 NA 0.2545 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ012590 CCDS101.1, CCDS72697.1 1p36 2008-02-05 2003-10-10 ENSG00000049239 ENSG00000049239 9563 1.1.1.47 4795 protein-coding gene gene with protein product 138090 glucose dehyrogenase GDH NA 10349511 Standard NM_004285 NM_001282587 NA Approved uc001apt.3 O95479 OTTHUMG00000001768 ENST00000377403.2:c.*5812G>C chr1.hg19:g.9330740G>C NA Q4TT33|Q66I35|Q68DT3 hg19 CCDS101.1 0.02 1.420747 GGAxAAC COVERED NOVEL H6PD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004928.2 0 21.96075 KEEP 0 0 0 73 2557 GG 1 0.999956 0 + 4 60 132 0 0 7.857541 94 60 3137 227 ENST00000377403.2 0.040816 0.999956 H6PD 9563 __UNKNOWN__ __UNKNOWN__ 1 9331283 9331283 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:9331283A>G ENST00000377403.2 + 0 9033 H6PD_ENST00000495451.1_3'UTR NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) NA NA pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) 6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) gggagccaccatgcctggccA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ012590 CCDS101.1, CCDS72697.1 1p36 2008-02-05 2003-10-10 ENSG00000049239 ENSG00000049239 9563 1.1.1.47 4795 protein-coding gene gene with protein product 138090 glucose dehyrogenase GDH NA 10349511 Standard NM_004285 NM_001282587 NA Approved uc001apt.3 O95479 OTTHUMG00000001768 ENST00000377403.2:c.*6355A>G chr1.hg19:g.9331283A>G NA Q4TT33|Q66I35|Q68DT3 hg19 CCDS101.1 0.02 -0.263045 ACCxTGC COVERED NOVEL H6PD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004928.2 6 3.910118 KEEP 2 0 0 13 385 AA 0.995343 0.690438 0 + 3 60 99 0 0 7.192907 25 60 687 61 ENST00000377403.2 0.107143 0.693668 CLSTN1 22883 __UNKNOWN__ __UNKNOWN__ 1 9805952 9805952 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:9805952A>G ENST00000377298.4 - 8 1778 CLSTN1_ENST00000377288.3_Intron|CLSTN1_ENST00000361311.4_Intron NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 NA NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) tcagcctcccaagtagctggg 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020718 CCDS105.1, CCDS30580.1 1p36.22 2011-07-01 ENSG00000171603 ENSG00000171603 22883 Cadherins / Cadherin-related 17447 protein-coding gene gene with protein product cadherin-related family member 12 611321 NA 10048485 Standard XM_005263432 NA Approved CSTN1, KIAA0911, CDHR12 uc001aqh.3 O94985 OTTHUMG00000001451 ENST00000377298.4:c.986-1251T>C chr1.hg19:g.9805952A>G NA A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9 hg19 CCDS30580.1 0.02 -0.14033 CCCxAGT COVERED NOVEL CLSTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000004239.1 5 3.009106 KEEP 0 0 0 10 311 AA 0.992708 0.259062 0 - 3 60 105 0 0 8.578825 13 60 380 30 ENST00000377298.4 0.1875 0.260965 CLSTN1 22883 __UNKNOWN__ __UNKNOWN__ 1 9852217 9852217 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:9852217T>C ENST00000377298.4 - 2 884 CLSTN1_ENST00000377288.3_Intron|CLSTN1_ENST00000361311.4_Intron NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 NA NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) gcactccagcttaggcgacag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020718 CCDS105.1, CCDS30580.1 1p36.22 2011-07-01 ENSG00000171603 ENSG00000171603 22883 Cadherins / Cadherin-related 17447 protein-coding gene gene with protein product cadherin-related family member 12 611321 NA 10048485 Standard XM_005263432 NA Approved CSTN1, KIAA0911, CDHR12 uc001aqh.3 O94985 OTTHUMG00000001451 ENST00000377298.4:c.92-18765A>G chr1.hg19:g.9852217T>C NA A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9 hg19 CCDS30580.1 0.02 -0.350841 AGCxTAG COVERED NOVEL CLSTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000004239.1 4 4.814837 KEEP 0 0 0 16 512 TT 0.997832 0.875805 0 - 3 60 110 1 0 7.874618 35 60 1049 84 ENST00000377298.4 0.078947 0.877708 CLSTN1 22883 __UNKNOWN__ __UNKNOWN__ 1 9852219 9852219 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:9852219A>G ENST00000377298.4 - 2 884 CLSTN1_ENST00000377288.3_Intron|CLSTN1_ENST00000361311.4_Intron NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 NA NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) actccagcttaggcgacagcg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020718 CCDS105.1, CCDS30580.1 1p36.22 2011-07-01 ENSG00000171603 ENSG00000171603 22883 Cadherins / Cadherin-related 17447 protein-coding gene gene with protein product cadherin-related family member 12 611321 NA 10048485 Standard XM_005263432 NA Approved CSTN1, KIAA0911, CDHR12 uc001aqh.3 O94985 OTTHUMG00000001451 ENST00000377298.4:c.92-18767T>C chr1.hg19:g.9852219A>G NA A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9 hg19 CCDS30580.1 0.02 -0.350799 CTTxGGC COVERED NOVEL CLSTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000004239.1 4 4.513539 KEEP 0 0 0 15 466 AA 0.99649 0.874627 0 - 3 60 103 0 0 7.175598 35 60 1008 84 ENST00000377298.4 0.078947 0.877708 NMNAT1 64802 __UNKNOWN__ __UNKNOWN__ 1 10042903 10042903 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:10042903C>T ENST00000377205.1 + 0 1128 NM_022787.3 NP_073624.2 Q9HAN9 NMNA1_HUMAN nicotinamide nucleotide adenylyltransferase 1 NA NA NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515) large_intestine(2)|lung(2)|stomach(1) 5 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) cagtggctcacgcctgtaatc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF312734 CCDS108.1, CCDS72698.1 1p36.22 2014-01-28 2003-04-30 2003-05-02 ENSG00000173614 ENSG00000173614 64802 2.7.7.1 17877 protein-coding gene gene with protein product 608700 nicotinamide nucleotide adenylyltransferase, Leber congenital amaurosis 9, Leber's congenital amaurosis 9 LCA9 NA 11248244, 11027696, 22842227 Standard XR_244792 NA Approved NMNAT, PNAT1 uc001aqp.3 Q9HAN9 OTTHUMG00000001799 ENST00000377205.1:c.*144C>T chr1.hg19:g.10042903C>T NA B1AN63|Q8TAE9|Q9H247|Q9H6B6 hg19 CCDS108.1 0.02 1.492466 TCAxGCC COVERED NOVEL NMNAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005029.1 10 11.6892 KEEP 0 2 60 60 1947 CC 1 0.984161 0 + 4 60 124 0 0 8.126092 50 60 1605 154 ENST00000377205.1 0.074074 0.984161 KIF1B 23095 __UNKNOWN__ __UNKNOWN__ 1 10436897 10436897 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:10436897A>G ENST00000377081.1 + 47 5487 KIF1B_ENST00000263934.6_3'UTR|KIF1B_ENST00000377086.1_3'UTR O60333 KIF1B_HUMAN kinesin family member 1B NA NA anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192) cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TTTTAAacacacacacacaca 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF257176 CCDS111.1, CCDS112.1 1p36.22 2014-09-17 ENSG00000054523 ENSG00000054523 23095 Kinesins, Pleckstrin homology (PH) domain containing 16636 protein-coding gene gene with protein product 605995 CMT2A, CMT2 NA 11389829, 10762626 Standard NM_015074 NA Approved KIAA0591, KLP, HMSNII uc001aqw.4 O60333 OTTHUMG00000001817 ENST00000377081.1:c.5408+1466A>G chr1.hg19:g.10436897A>G NA A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280 hg19 0.02 -0.402281 CACxCAC COVERED NOVEL KIF1B-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000005106.1 6 22.559106 KEEP 0 0 0 75 2143 AA 1 0.934492 0 + 5 27 143 0 0 10.322094 34 60 920 124 ENST00000377081.1 0.128205 0.934492 PGD 5226 __UNKNOWN__ __UNKNOWN__ 1 10471708 10471708 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:10471708G>A ENST00000270776.8 + 7 692 PGD_ENST00000538557.1_Intron|PGD_ENST00000541529.1_Intron NM_002631.2 NP_002622.2 P52209 6PGD_HUMAN phosphogluconate dehydrogenase NA NA carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867) TTGGCCATTCGGGTGGCCTGC 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000368 CCDS113.1 1p36.22 2012-10-02 ENSG00000142657 ENSG00000142657 5226 1.1.1.43 8891 protein-coding gene gene with protein product 172200 NA Standard NM_002631 NM_002631 NA Approved uc001arc.3 P52209 OTTHUMG00000001905 ENST00000270776.8:c.654+99G>A chr1.hg19:g.10471708G>A NA A8K2Y9|B4DQJ8|Q9BWD8 hg19 CCDS113.1 0.02 1.375008 TTCxGGT COVERED NOVEL PGD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005398.1 0 32.796289 KEEP 0 0 0 109 3622 GG 1 0.986153 0 + 5 60 130 0 0 8.055068 54 60 1708 197 ENST00000270776.8 0.084746 0.986153 DFFA 1676 __UNKNOWN__ __UNKNOWN__ 1 10517539 10517539 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:10517539A>G ENST00000377038.3 - 0 5071 NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide NA NA apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) agaccagtctagccaacatgg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF087573 CCDS118.1, CCDS119.1 1p36.3-p36.2 2008-07-18 2002-08-29 ENSG00000160049 ENSG00000160049 1676 2772 protein-coding gene gene with protein product DNA fragmentation factor, 45 kD, alpha subunit 601882 DNA fragmentation factor, 45 kD, alpha polypeptide NA 9605855, 9108473 Standard NM_004401 NM_004401 NA Approved DFF-45, DFF45, ICAD, DFF1 uc001arj.3 O00273 OTTHUMG00000001909 ENST00000377038.3:c.*4008T>C chr1.hg19:g.10517539A>G NA Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6 hg19 CCDS118.1 0.02 -0.219254 TCTxGCC COVERED NOVEL DFFA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005418.1 3 9.62833 KEEP 1 0 0 32 982 AA 0.999997 0.552886 0 - 4 60 115 0 0 8.795413 19 60 554 60 ENST00000377038.3 0.173913 0.552887 DFFA 1676 __UNKNOWN__ __UNKNOWN__ 1 10517992 10517992 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:10517992T>C ENST00000377038.3 - 0 4618 NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide NA NA apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) tggtggctcatgcctgtaatc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF087573 CCDS118.1, CCDS119.1 1p36.3-p36.2 2008-07-18 2002-08-29 ENSG00000160049 ENSG00000160049 1676 2772 protein-coding gene gene with protein product DNA fragmentation factor, 45 kD, alpha subunit 601882 DNA fragmentation factor, 45 kD, alpha polypeptide NA 9605855, 9108473 Standard NM_004401 NM_004401 NA Approved DFF-45, DFF45, ICAD, DFF1 uc001arj.3 O00273 OTTHUMG00000001909 ENST00000377038.3:c.*3555A>G chr1.hg19:g.10517992T>C NA Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6 hg19 CCDS118.1 0.02 -0.315729 TCAxGCC COVERED NOVEL DFFA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005418.1 1 6.303289 KEEP 0 0 0 21 628 TT 0.999869 0.818358 0 - 3 60 103 0 0 7.326525 31 60 910 79 ENST00000377038.3 0.088235 0.818465 DFFA 1676 __UNKNOWN__ __UNKNOWN__ 1 10518067 10518067 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:10518067T>C ENST00000377038.3 - 0 4543 NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide NA NA apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) ccagcctgggtaacatggtga 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF087573 CCDS118.1, CCDS119.1 1p36.3-p36.2 2008-07-18 2002-08-29 ENSG00000160049 ENSG00000160049 1676 2772 protein-coding gene gene with protein product DNA fragmentation factor, 45 kD, alpha subunit 601882 DNA fragmentation factor, 45 kD, alpha polypeptide NA 9605855, 9108473 Standard NM_004401 NM_004401 NA Approved DFF-45, DFF45, ICAD, DFF1 uc001arj.3 O00273 OTTHUMG00000001909 ENST00000377038.3:c.*3480A>G chr1.hg19:g.10518067T>C NA Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6 hg19 CCDS118.1 0.02 -0.184066 GGGxAAC COVERED NOVEL DFFA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005418.1 4 2.440058 KEEP 0 1 34 20 570 TT 0.999869 0.423422 0 - 3 60 102 0 0 7.961773 17 60 451 53 ENST00000377038.3 0.15 0.423478 DFFA 1676 __UNKNOWN__ __UNKNOWN__ 1 10520040 10520040 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:10520040A>G ENST00000377038.3 - 0 2570 NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide NA NA apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) ggtggctcacacctgtaatcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF087573 CCDS118.1, CCDS119.1 1p36.3-p36.2 2008-07-18 2002-08-29 ENSG00000160049 ENSG00000160049 1676 2772 protein-coding gene gene with protein product DNA fragmentation factor, 45 kD, alpha subunit 601882 DNA fragmentation factor, 45 kD, alpha polypeptide NA 9605855, 9108473 Standard NM_004401 NM_004401 NA Approved DFF-45, DFF45, ICAD, DFF1 uc001arj.3 O00273 OTTHUMG00000001909 ENST00000377038.3:c.*1507T>C chr1.hg19:g.10520040A>G NA Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6 hg19 CCDS118.1 0.02 -0.35076 CACxCCT COVERED NOVEL DFFA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005418.1 14 2.339356 KEEP 3 1 26 17 518 AA 0.999366 0.877152 0 - 3 60 104 0 0 7.27543 35 60 990 76 ENST00000377038.3 0.078947 0.877708 MTOR 2475 __UNKNOWN__ __UNKNOWN__ 1 11303500 11303500 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:11303500A>G ENST00000361445.4 - 9 1302 NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) NA NA cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932) ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287) tgtaatcccaacactttggga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L34075 CCDS127.1 1p36 2014-09-17 2009-05-29 2009-05-29 ENSG00000198793 ENSG00000198793 2475 3942 protein-coding gene gene with protein product FK506 binding protein 12-rapamycin associated protein 2, rapamycin target protein, FKBP12-rapamycin complex-associated protein 1, FKBP-rapamycin associated protein, rapamycin associated protein FRAP2, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), rapamycin and FKBP12 target 1, mammalian target of rapamycin 601231 FK506 binding protein 12-rapamycin associated protein 1 FRAP, FRAP2, FRAP1 NA 8008069, 8660990 Standard NM_004958 NM_004958 NA Approved RAFT1, RAPT1, FLJ44809 uc001asd.3 P42345 OTTHUMG00000002001 ENST00000361445.4:c.1226-143T>C chr1.hg19:g.11303500A>G NA Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3 hg19 CCDS127.1 0.02 -0.201704 CCAxCAC COVERED NOVEL MTOR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005558.1 5 2.70698 KEEP 0 0 0 9 268 AA 0.99254 0.486885 0 - 5 60 176 0 0 14.757004 18 60 516 37 ENST00000361445.4 0.217391 0.490544 DRAXIN 374946 __UNKNOWN__ __UNKNOWN__ 1 11783870 11783870 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:11783870A>G ENST00000294485.5 + 0 5302 NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein NA NA NA ggctggtctcaaactcctgac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY358750 CCDS135.1 1p36.22 2012-08-20 2012-08-14 2012-08-14 ENSG00000162490 ENSG00000162490 374946 25054 protein-coding gene gene with protein product dorsal repulsive axon guidance protein, neural tissue-specific cysteine-rich protein 612682 chromosome 1 open reading frame 187 C1orf187 NA 19150847 Standard NM_198545 NM_198545 NA Approved FLJ34999, Draxin, Neucrin uc001asr.1 Q8NBI3 OTTHUMG00000002227 ENST00000294485.5:c.*4117A>G chr1.hg19:g.11783870A>G NA hg19 CCDS135.1 0.02 -0.420845 CTCxAAC COVERED NOVEL DRAXIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006325.1 8 10.228304 KEEP 0 0 0 34 1003 AA 0.999998 0.954489 0 + 4 60 132 0 0 9.375301 38 60 1048 105 ENST00000294485.5 0.095238 0.954491 CLCN6 1185 __UNKNOWN__ __UNKNOWN__ 1 11880578 11880578 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:11880578T>C ENST00000346436.6 + 5 398 CLCN6_ENST00000376487.3_Intron|CLCN6_ENST00000376496.3_Intron|CLCN6_ENST00000376497.3_3'UTR|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron NM_001286.3 NP_001277 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 NA NA cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) aatcccagcattttgggaggc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X83378 CCDS138.1, CCDS57972.1 1p36 2012-09-26 2012-02-23 ENSG00000011021 ENSG00000011021 1185 Ion channels / Chloride channels : Voltage-sensitive 2024 protein-coding gene gene with protein product 602726 chloride channel 6 NA 8543009 Standard NM_001286 NM_001286 NA Approved CLC-6, KIAA0046, ClC-6 uc001ate.5 P51797 OTTHUMG00000002299 ENST00000346436.6:c.346+967T>C chr1.hg19:g.11880578T>C NA A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429 hg19 CCDS138.1 0.02 3.60449 GCAxTTT COVERED NOVEL CLCN6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006639.2 15 10.068186 KEEP 0 7 239 117 3795 TT 1 0.999994 0 + 5 60 165 0 0 10.293859 94 60 2825 311 ENST00000346436.6 0.050505 0.999994 CLCN6 1185 __UNKNOWN__ __UNKNOWN__ 1 11880589 11880589 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:11880589A>C ENST00000346436.6 + 5 398 CLCN6_ENST00000376487.3_Intron|CLCN6_ENST00000376496.3_Intron|CLCN6_ENST00000376497.3_3'UTR|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron NM_001286.3 NP_001277 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 NA NA cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) tttgggaggcagaggcaggcg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X83378 CCDS138.1, CCDS57972.1 1p36 2012-09-26 2012-02-23 ENSG00000011021 ENSG00000011021 1185 Ion channels / Chloride channels : Voltage-sensitive 2024 protein-coding gene gene with protein product 602726 chloride channel 6 NA 8543009 Standard NM_001286 NM_001286 NA Approved CLC-6, KIAA0046, ClC-6 uc001ate.5 P51797 OTTHUMG00000002299 ENST00000346436.6:c.346+978A>C chr1.hg19:g.11880589A>C NA A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429 hg19 CCDS138.1 0.02 1.55544 GGCxGAG COVERED NOVEL CLCN6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006639.2 13 14.10235 KEEP 0 5 142 97 2983 AA 1 0.999948 0 + 4 60 132 1 0 8.048682 84 60 2458 263 ENST00000346436.6 0.045455 0.999948 KIAA2013 90231 __UNKNOWN__ __UNKNOWN__ 1 11985396 11985396 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:11985396A>G ENST00000376572.3 - 1 1084 c.899T>C c.(898-900)cTc>cCc p.L300P KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P NM_138346.2 NP_612355.1 Q8IYS2 K2013_HUMAN KIAA2013 300 NA integral component of membrane (GO:0016021)|membrane (GO:0016020) endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTTGCTTTTGAGCACCTGGGG 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 63 62 62 NA NA NA 1 NA NA 11985396 2203 4300 6503 SO:0001583 missense AB095933 CCDS141.1 1p36.22 2011-02-09 ENSG00000116685 ENSG00000116685 90231 28513 protein-coding gene gene with protein product NA 12477932 Standard NM_138346 NM_138346 NA Approved MGC33867, RP5-1077B9.1 uc001atk.3 Q8IYS2 OTTHUMG00000002391 ENST00000376572.3:c.899T>C chr1.hg19:g.11985396A>G ENSP00000365756:p.Leu300Pro NA Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1 hg19 CCDS141.1 0.02 1.610988 TTGxGCA COVERED . . . . . . . . . . A 11.11 1.542851 0.27563 . . ENSG00000116685 ENST00000376572;ENST00000376576 . . . 3.9 3.9 0.45041 . 0.451826 0.20244 N 0.096238 T 0.53706 0.1813 L 0.40543 1.245 0.54753 D 0.999987 D;D 0.69078 0.997;0.97 P;P 0.62382 0.901;0.859 T 0.50110 -0.8866 9 0.27082 T 0.32 -7.7378 5.53 0.16978 0.8693:0.0:0.1307:0.0 . 300;300 Q8IYS2-2;Q8IYS2 .;K2013_HUMAN P 300 . ENSP00000365756:L300P L - 2 0 KIAA2013 11907983 1.000000 0.71417 1.000000 0.80357 0.916000 0.54674 3.737000 0.55060 1.767000 0.52121 0.421000 0.28195 CTC NOVEL KIAA2013-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006858.1 1 2.513499 KEEP 18 3 105 45 1451 AA 1 0.995083 0 - 11 27 337 0 0 26.041675 55 60 1626 179 ENST00000376572.3 0.166667 0.995084 VPS13D 55187 __UNKNOWN__ __UNKNOWN__ 1 12382153 12382153 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:12382153T>C ENST00000358136.3 + 33 7834 VPS13D_ENST00000356315.4_Intron NM_015378.2 NP_056193.2 vacuolar protein sorting 13 homolog D (S. cerevisiae) NA NA NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) gatggagtcttgctctgtcgc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ608774 CCDS30588.1, CCDS30589.1 1p36.21 2008-02-05 2006-04-04 ENSG00000048707 ENSG00000048707 55187 23595 protein-coding gene gene with protein product 608877 vacuolar protein sorting 13D (yeast) NA Standard NM_015378 NM_015378 NA Approved FLJ10619, KIAA0453 uc001atv.3 Q5THJ4 OTTHUMG00000013155 ENST00000358136.3:c.7704+132T>C chr1.hg19:g.12382153T>C NA hg19 CCDS30588.1 0.02 1.888755 TCTxGCT COVERED NOVEL VPS13D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000036897.2 9 5.751581 KEEP 5 1 34 31 955 TT 0.999997 0.984159 0 + 5 60 139 1 0 9.530368 39 60 1127 112 ENST00000358136.3 0.113636 0.984161 PRAMEF4 400735 __UNKNOWN__ __UNKNOWN__ 1 12942645 12942645 __UNKNOWN__ Intron SNP A A G rs80208248 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:12942645A>G ENST00000235349.5 - 2 364 NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 NA NA negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) tcttgacctcagcctcccaat 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS30592.1 1p36.21 2013-01-17 ENSG00000243073 ENSG00000243073 400735 - 31971 protein-coding gene gene with protein product NA Standard NM_001009611 NM_001009611 NA Approved RP5-845O24.6 uc001aun.2 O60810 OTTHUMG00000001987 ENST00000235349.5:c.293+277T>C chr1.hg19:g.12942645A>G NA Q5LJB5 hg19 CCDS30592.1 0.02 -0.131579 CTCxGCC COVERED NOVEL PRAMEF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005518.1 5 2.407522 KEEP 1 0 0 8 258 AA 0.99254 0.227464 0 - 3 46 103 0 0 9.07863 7 60 220 40 ENST00000235349.5 0.3 0.229173 FHAD1 114827 __UNKNOWN__ __UNKNOWN__ 1 15668242 15668242 __UNKNOWN__ Silent SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:15668242A>G ENST00000375998.4 + 14 1917 c.1917A>G c.(1915-1917)caA>caG p.Q639Q FHAD1_ENST00000375999.3_Silent_p.Q639Q|RP3-467K16.2_ENST00000428747.1_RNA|FHAD1_ENST00000417793.1_Silent_p.Q639Q|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000358897.4_Silent_p.Q639Q B1AJZ9 FHAD1_HUMAN forkhead-associated (FHA) phosphopeptide binding domain 1 639 NA skin(1)|stomach(1) 2 ATCAAGTTCAACAGTTCTCAG 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 143 115 124 NA NA NA 1 NA NA 15668242 692 1591 2283 SO:0001819 synonymous_variant AK093300 1p36.21 2012-04-19 ENSG00000142621 ENSG00000142621 114827 29408 protein-coding gene gene with protein product NA 11572484 Standard NM_052929 NM_052929 NA Approved KIAA1937 uc001awb.2 B1AJZ9 OTTHUMG00000002088 ENST00000375998.4:c.1917A>G chr1.hg19:g.15668242A>G NA Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05 hg19 0.02 -0.192988 TCAxCAG COVERED NOVEL FHAD1-026 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000393400.2 1 3.911764 KEEP 0 0 0 13 415 AA 0.994391 0.455189 0 + 13 60 453 0 0 45.442176 8 60 243 48 ENST00000375998.4 0.619048 0.457757 EFHD2 79180 __UNKNOWN__ __UNKNOWN__ 1 15754972 15754972 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:15754972G>A ENST00000375980.4 + 4 668 NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 NA NA membrane (GO:0016020) calcium ion binding (GO:0005509) large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) cagcctgggcgacagagcgag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014923 CCDS155.1 1p36 2014-07-01 2005-01-25 ENSG00000142634 ENSG00000142634 79180 EF-hand domain containing 28670 protein-coding gene gene with protein product swiprosin-1 EF hand domain containing 2 NA 21244694 Standard NM_024329 NM_024329 NA Approved MGC4342 uc001awh.2 Q96C19 OTTHUMG00000002254 ENST00000375980.4:c.592-117G>A chr1.hg19:g.15754972G>A NA Q5JYW9 hg19 CCDS155.1 0.02 -0.175109 GGCxACA COVERED NOVEL EFHD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006433.1 5 2.708672 KEEP 0 0 0 9 307 GG 0.99254 0.384517 0 + 3 60 87 0 0 6.613806 15 60 468 42 ENST00000375980.4 0.166667 0.387407 CASP9 842 __UNKNOWN__ __UNKNOWN__ 1 15818003 15818003 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:15818003T>A ENST00000546424.1 - 0 3786 P55211 CASP9_HUMAN caspase 9, apoptosis-related cysteine peptidase NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770) apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1) 18 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) ctgtaacccctgcactttggg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U60521 CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1 1p36.21 2012-04-17 2005-08-17 ENSG00000132906 ENSG00000132906 842 Caspases, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 1511 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 56 602234 caspase 9, apoptosis-related cysteine protease NA 8663294, 9390557 Standard NM_032996 NM_001229 NA Approved MCH6, ICE-LAP6, APAF-3, PPP1R56 uc001awn.4 P55211 OTTHUMG00000002256 ENST00000546424.1:c.*2276A>T chr1.hg19:g.15818003T>A NA B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8 hg19 0.02 1.412246 CCCxGCA COVERED NOVEL CASP9-009 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000407260.1 13 5.686328 KEEP 0 5 154 73 2295 TT 1 0.994422 0 - 6 60 183 1 1 12.790413 52 60 1586 189 ENST00000546424.1 0.103448 0.994422 AGMAT 79814 __UNKNOWN__ __UNKNOWN__ 1 15899352 15899352 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:15899352G>T ENST00000375826.3 - 0 1995 DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) NA NA agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) agmatinase activity (GO:0008783)|metal ion binding (GO:0046872) endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) tcttgctctggcacccaggct 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(126;1678 1780 25805 43508 49531) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY057097 CCDS160.1 1p36.13 2009-01-05 ENSG00000116771 ENSG00000116771 79814 18407 protein-coding gene gene with protein product NA 11804860, 14648699, 11914032 Standard NM_024758 NM_024758 NA Approved FLJ23384 uc001awv.2 Q9BSE5 OTTHUMG00000002357 ENST00000375826.3:c.*794C>A chr1.hg19:g.15899352G>T NA Q5TDH1|Q9H5J3 hg19 CCDS160.1 0.02 -0.393959 CTGxCAC COVERED NOVEL AGMAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006763.1 5 3.744227 KEEP 1 1 30 23 752 GG 0.999909 0.934407 0 - 4 60 109 0 0 7.642172 27 60 846 87 ENST00000375826.3 0.129032 0.934492 SPEN 23013 __UNKNOWN__ __UNKNOWN__ 1 16188286 16188286 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16188286C>T ENST00000375759.3 + 2 287 NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) cctgtaatcccagcactttgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS164.1 1p36 2013-10-17 2013-10-17 ENSG00000065526 ENSG00000065526 23013 RNA binding motif (RRM) containing 17575 protein-coding gene gene with protein product 613484 SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila) NA 10451362, 11331609 Standard NM_015001 NM_015001 NA Approved KIAA0929, MINT, SHARP, RBM15C uc001axk.1 Q96T58 OTTHUMG00000009376 ENST00000375759.3:c.84-11025C>T chr1.hg19:g.16188286C>T NA Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556 hg19 CCDS164.1 0.02 -0.11402 TCCxAGC UNCOVERED NOVEL SPEN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025993.1 4 3.310962 KEEP 0 0 0 11 404 CC 0.993072 0.161341 0 + 3 60 82 0 0 6.831817 8 60 277 31 ENST00000375759.3 0.272727 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16573274 16573274 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16573274A>G NA NA RSG1 (9617 upstream) : FBXO42 (59 downstream) NA NA NA tgggattacaagcgtgagcca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16573274A>G NA hg19 0.02 -0.254357 ACAxGCG COVERED NOVEL 0 3 7.860296 KEEP 3 1 37 39 1262 AA 1 0.668523 0 3 60 98 0 1 7.14279 24 60 722 98 0.111111 0.668523 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16891299 16891299 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16891299T>C ENST00000430580.2 - 28 4064 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGCTGAAAGTTACCTGGGGCA 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.3176+2A>G chr1.hg19:g.16891299T>C NA Q8N4E8|Q9C0H0 hg19 0.02 1.754239 AGTxACC COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 4 6.314013 KEEP 3 0 0 21 604 TT 0.999869 0.989413 0 - 5 53 156 0 0 10.596294 53 60 1410 116 ENST00000430580.2 0.086207 0.989542 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16891956 16891956 __UNKNOWN__ Intron SNP C C T rs3872312 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16891956C>T ENST00000430580.2 - 27 3952 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CTGACCCATCCCATGTCTGGG 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.3064+171G>A chr1.hg19:g.16891956C>T NA Q8N4E8|Q9C0H0 hg19 0.02 3.195329 ATCxCAT COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 8 23.609388 KEEP 3 1 30 89 3062 CC 1 1 0 - 22 60 650 0 0 49.762046 109 60 3530 295 ENST00000430580.2 0.167939 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16892075 16892075 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16892075C>G ENST00000430580.2 - 27 3952 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GGAATATGATCTTTATATGGA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.3064+52G>C chr1.hg19:g.16892075C>G NA Q8N4E8|Q9C0H0 hg19 0.02 3.467076 GATxTTT COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 4 21.506164 KEEP 5 1 36 84 3049 CC 1 1 0 - 11 40 354 0 0 23.994833 127 42 4309 305 ENST00000430580.2 0.07971 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16893777 16893777 __UNKNOWN__ Silent SNP T T C rs11488477 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16893777T>C ENST00000430580.2 - 25 3623 c.2736A>G c.(2734-2736)tcA>tcG p.S912S NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 912 NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CTGAAGGAGTTGAATAACATC 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 598 531 554 NA NA NA 1 NA NA 16893777 2203 4298 6501 SO:0001819 synonymous_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.2736A>G chr1.hg19:g.16893777T>C NA Q8N4E8|Q9C0H0 hg19 0.02 1.362423 AGTxGAA COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 2 15.64741 KEEP 6 0 0 52 1638 TT 1 0.999487 0 - 5 47 151 0 0 9.292238 78 60 2258 204 ENST00000430580.2 0.060241 0.999487 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16910063 16910063 __UNKNOWN__ Intron SNP C C T rs3872319 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16910063C>T ENST00000430580.2 - 13 1979 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GCTGCTCCCCCACCTGCCCCC 0.582 NA .||| 2 0.000399361 0 0 5008 , , NA 40234 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 149 166 160 NA NA NA 1 NA NA 16910063 1174 2369 3543 SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.1091+25G>A chr1.hg19:g.16910063C>T NA Q8N4E8|Q9C0H0 hg19 0.02 -0.201743 CCCxACC COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 0 5.11579 KEEP 1 0 0 17 565 CC 0.999366 0.490234 0 - 7 22 205 0 0 17.701541 16 60 518 43 ENST00000430580.2 0.304348 0.490544 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16918498 16918498 __UNKNOWN__ Missense_Mutation SNP G G A rs11583018 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16918498G>A ENST00000430580.2 - 7 906 c.19C>T c.(19-21)Cct>Tct p.P7S NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 7 NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CTGGACCAAGGGCCAGCTGAT 0.493 NA .||| 2469 0.493011 0.2579 0.536 5008 , , NA 65429 0.6101 NA 0.6024 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 G SER/PRO 73,4323 0,73,2125 282 283 283 NA 19 -0.6 0 1 dbSNP_120 283 242,8356 0,242,4057 no missense NBPF1 NM_017940.3 74 0,315,6182 AA,AG,GG NA 2.8146,1.6606,2.4242 probably-damaging 7/1123 16918498 315,12679 2198 4299 6497 SO:0001583 missense AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.19C>T chr1.hg19:g.16918498G>A ENSP00000474456:p.Pro7Ser NA Q8N4E8|Q9C0H0 hg19 0.02 -0.359629 AAGxGCC COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 0 2.87638 KEEP 1 2 55 29 963 GG 0.999997 0.888873 0 - 10 60 300 0 0 25.130202 29 60 925 81 ENST00000430580.2 0.25641 0.888875 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16925646 16925646 __UNKNOWN__ Intron SNP T T C rs3981770 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16925646T>C ENST00000430580.2 - 3 422 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TATGTACTGGTATCTCATATG 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.466-4142A>G chr1.hg19:g.16925646T>C NA Q8N4E8|Q9C0H0 hg19 0.02 -0.078871 TGGxATC UNCOVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 3 2.70446 KEEP 0 0 0 9 260 TT 0.99254 0.076759 0 - 5 60 151 0 0 14.797317 4 60 107 19 ENST00000430580.2 0.555556 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16942992 16942992 __UNKNOWN__ IGR SNP C C T rs60724508 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16942992C>T NA NA NBPF1 (3010 upstream) : RP5-1182A14.5 (893 downstream) NA NA NA gtcaggagttcgagaccagcc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16942992C>T NA hg19 0.02 -0.298185 GTTxGAG COVERED NOVEL 0 17 4.511187 KEEP 8 0 0 15 475 CC 0.99649 0.778319 0 5 54 147 0 0 11.298689 24 60 740 75 0.172414 0.78106 CROCCP2 84809 __UNKNOWN__ __UNKNOWN__ 1 16946336 16946336 __UNKNOWN__ lincRNA SNP G G A rs11586784 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16946336G>A ENST00000412962.1 - 0 1183 Q86T23 CROL1_HUMAN ciliary rootlet coiled-coil, rootletin pseudogene 2 NA NA centrosome organization (GO:0051297) ciliary rootlet (GO:0035253) NA CAGGGCTCACGAACCTGCTGC 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK090414 1p36.13 2010-07-08 2010-07-08 2010-07-08 ENSG00000215908 ENSG00000215908 84809 28170 pseudogene pseudogene ciliary rootlet coiled-coil, rootletin-like 1 CROCCL1 NA 12477932 Standard NR_026752.1 NR_026752 NA Approved MGC12760 uc001azf.3 Q86T23 OTTHUMG00000037884 ENST00000412962.1: chr1.hg19:g.16946336G>A NA Q8NF65|Q96FR5|Q9BRE8 hg19 0.02 -0.324517 CACxAAC COVERED NOVEL CROCCP2-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000092784.1 1 2.401808 KEEP 0 0 0 8 254 GG 0.99257 0.829507 0 - 5 60 142 0 0 10.227548 32 60 1005 64 ENST00000412962.1 0.135135 0.835716 CROCCP2 84809 __UNKNOWN__ __UNKNOWN__ 1 16948509 16948509 __UNKNOWN__ lincRNA SNP C C T rs11260842 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16948509C>T ENST00000412962.1 - 0 1000 Q86T23 CROL1_HUMAN ciliary rootlet coiled-coil, rootletin pseudogene 2 NA NA centrosome organization (GO:0051297) ciliary rootlet (GO:0035253) NA GAGGCCTGGGCCTCCCGCTCA 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK090414 1p36.13 2010-07-08 2010-07-08 2010-07-08 ENSG00000215908 ENSG00000215908 84809 28170 pseudogene pseudogene ciliary rootlet coiled-coil, rootletin-like 1 CROCCL1 NA 12477932 Standard NR_026752.1 NR_026752 NA Approved MGC12760 uc001azf.3 Q86T23 OTTHUMG00000037884 ENST00000412962.1: chr1.hg19:g.16948509C>T NA Q8NF65|Q96FR5|Q9BRE8 hg19 0.02 1.362935 GGGxCTC COVERED NOVEL CROCCP2-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000092784.1 0 5.985341 KEEP 1 2 63 42 1460 CC 1 0.999487 0 - 15 60 433 0 0 33.440927 68 60 2273 179 ENST00000412962.1 0.180723 0.999487 CROCCP2 84809 __UNKNOWN__ __UNKNOWN__ 1 16951189 16951189 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16951189A>G ENST00000412962.1 - 0 1000 Q86T23 CROL1_HUMAN ciliary rootlet coiled-coil, rootletin pseudogene 2 NA NA centrosome organization (GO:0051297) ciliary rootlet (GO:0035253) NA gctcacgcctataatcccagc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK090414 1p36.13 2010-07-08 2010-07-08 2010-07-08 ENSG00000215908 ENSG00000215908 84809 28170 pseudogene pseudogene ciliary rootlet coiled-coil, rootletin-like 1 CROCCL1 NA 12477932 Standard NR_026752.1 NR_026752 NA Approved MGC12760 uc001azf.3 Q86T23 OTTHUMG00000037884 ENST00000412962.1: chr1.hg19:g.16951189A>G NA Q8NF65|Q96FR5|Q9BRE8 hg19 0.02 -0.254338 CCTxTAA COVERED NOVEL CROCCP2-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000092784.1 7 2.407216 KEEP 0 0 0 8 246 AA 0.99257 0.663556 0 - 3 60 102 0 0 7.826977 19 60 541 56 ENST00000412962.1 0.136364 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16962580 16962580 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16962580T>G NA NA CROCCP2 (1526 upstream) : RNU1-3 (30699 downstream) NA NA NA ggtggctcactcttgtaatcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16962580T>G NA hg19 0.02 -0.263118 CACxCTT COVERED NOVEL 0 2 4.213274 KEEP 0 0 0 14 460 TT 0.995343 0.713975 0 3 60 101 0 0 7.392404 25 60 747 70 0.107143 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16973519 16973519 __UNKNOWN__ IGR SNP G G A rs2501762 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16973519G>A NA NA CROCCP2 (12465 upstream) : RNU1-3 (19760 downstream) NA NA NA AACTTCTGCCGTAACCCTGAT 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16973519G>A NA hg19 0.02 5.600148 GCCxTAA COVERED NOVEL 0 4 55.874409 KEEP 255 16 502 362 12082 GG 1 1 0 12 49 355 0 0 20.437894 234 50 7330 1059 0.04878 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16976620 16976620 __UNKNOWN__ IGR SNP A A G rs55885953 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:16976620A>G NA NA CROCCP2 (15566 upstream) : RNU1-3 (16659 downstream) NA NA NA CTGGGTCCTGAAAGGAATTAG 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16976620A>G NA hg19 0.02 7.405606 CTGxAAG COVERED NOVEL 0 5 11.120142 KEEP 19 14 478 204 6474 AA 1 1 0 9 49 306 0 0 18.848917 197 51 5804 586 0.043689 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17015865 17015865 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17015865T>C NA NA AL021920.1 (8042 upstream) : ESPNP (1847 downstream) NA NA NA cgtgccaccatgcccagctaa 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17015865T>C NA hg19 0.02 -0.10523 CCAxGCC UNCOVERED NOVEL 0 5 2.406271 KEEP 1 0 0 8 238 TT 0 0 0 3 60 81 0 0 6.601245 9 60 268 21 0.25 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17015989 17015989 __UNKNOWN__ IGR SNP G G A rs4316362 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17015989G>A NA NA AL021920.1 (8166 upstream) : ESPNP (1723 downstream) NA NA NA gattacaggcgtgagccactg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17015989G>A NA hg19 0.02 -0.34204 GGCxTGA COVERED NOVEL 0 16 6.018302 KEEP 1 0 0 20 652 GG 0.99986 0.865624 0 12 60 347 0 0 30.836921 22 60 699 79 0.352941 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17016048 17016048 __UNKNOWN__ IGR SNP T T G rs12122458 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17016048T>G NA NA AL021920.1 (8225 upstream) : ESPNP (1664 downstream) NA NA NA ggagtctcactctgttgccca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17016048T>G NA hg19 0.02 -0.157861 CACxCTG COVERED NOVEL 0 8 4.511288 KEEP 0 0 0 15 470 TT 0.99649 0.321674 0 5 60 163 0 0 14.370673 11 60 316 40 0.3125 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17016077 17016077 __UNKNOWN__ IGR SNP C C G rs12120112 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17016077C>G NA NA AL021920.1 (8254 upstream) : ESPNP (1635 downstream) NA NA NA tacaaaatggcgtgatcccgg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17016077C>G NA hg19 0.02 -0.122803 TGGxGTG COVERED NOVEL 0 3 2.407266 KEEP 0 0 0 8 250 CC 0.99257 0.194853 0 4 60 130 0 0 11.591242 8 60 257 26 0.333333 0.196312 ESPNP 284729 __UNKNOWN__ __UNKNOWN__ 1 17022745 17022745 __UNKNOWN__ RNA SNP G G A rs11260885|rs71574196 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17022745G>A ENST00000492551.1 - 0 1938 NR_026567.1 espin pseudogene NA NA NA agccgagatcgcgccactgca 0.522 NA g||| 1486 0.296725 0.1233 0.3329 5008 , , NA 36466 0.4325 NA 0.2992 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL035288 1p36.13 2013-05-22 ENSG00000268869 ENSG00000268869 284729 23285 pseudogene pseudogene NA 15286153 Standard NR_026567 NA Approved uc001azn.1 OTTHUMG00000000803 ENST00000492551.1: chr1.hg19:g.17022745G>A NA hg19 0.02 -0.210517 ATCxCGC COVERED NOVEL ESPNP-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000326311.1 0 2.708697 KEEP 0 0 0 9 307 GG 0.99254 0.518266 0 - 4 60 122 0 0 9.668771 17 60 555 47 ENST00000492551.1 0.190476 0.522161 ESPNP 284729 __UNKNOWN__ __UNKNOWN__ 1 17022746 17022746 __UNKNOWN__ RNA SNP C C T rs11260886|rs71574196 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17022746C>T ENST00000492551.1 - 0 1938 NR_026567.1 espin pseudogene NA NA NA gccgagatcgcgccactgcac 0.522 NA c||| 1486 0.296725 0.1233 0.3329 5008 , , NA 35636 0.4325 NA 0.2992 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL035288 1p36.13 2013-05-22 ENSG00000268869 ENSG00000268869 284729 23285 pseudogene pseudogene NA 15286153 Standard NR_026567 NA Approved uc001azn.1 OTTHUMG00000000803 ENST00000492551.1: chr1.hg19:g.17022746C>T NA hg19 0.02 -0.210485 TCGxGCC COVERED NOVEL ESPNP-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000326311.1 0 2.708858 KEEP 0 0 0 9 321 CC 0.99254 0.518266 0 - 4 60 110 0 0 8.469852 17 60 554 47 ENST00000492551.1 0.190476 0.522161 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17081535 17081535 __UNKNOWN__ RNA SNP G G A rs79522683 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17081535G>A ENST00000455405.2 - 0 3053 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA ATCTCAATATGCAGTCTGGCT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17081535G>A NA B7WPB1|Q13209 hg19 0.02 4.366011 TATxCAG COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 9 2.617614 KEEP 14 32 971 350 12575 GG 1 1 0 - 30 60 871 0 0 67.280093 137 60 4701 804 ENST00000455405.2 0.179641 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17082875 17082875 __UNKNOWN__ RNA SNP C C T rs9658859 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17082875C>T ENST00000455405.2 - 0 1713 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA ACCTATCAGCCGGAGAGGAAG 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17082875C>T NA B7WPB1|Q13209 hg19 0.02 4.662952 AGCxGGA COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 17 20.590279 KEEP 23 21 666 302 10090 CC 1 1 0 - 39 50 1171 1 0 95.952627 131 51 4190 711 ENST00000455405.2 0.229412 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17084152 17084152 __UNKNOWN__ RNA SNP C C T rs202123117 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17084152C>T ENST00000455405.2 - 0 560 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA ATTACCCGTACCTGCAGTGAG 0.562 NA .||| 138 0.0275559 0.0023 0.0288 5008 , , NA 80178 0.0159 NA 0.0517 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17084152C>T NA B7WPB1|Q13209 hg19 0.02 10.63445 GTAxCTG COVERED . . . . . . . . . . . 10.17 1.277638 0.23307 . . ENSG00000186715 ENST00000334998;ENST00000442552 . . . . . . Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.335271 0.21488 N 0.073725 T 0.63581 0.2523 . . . . . . D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.996 T 0.67150 -0.5743 6 0.36615 T 0.2 . 6.7402 0.23431 0.0:0.9998:0.0:2.0E-4 . 590;616 Q2TV78-2;Q2TV78 .;MSTP9_HUMAN D 590;616 . ENSP00000439273:G590D G - 2 0 MST1P9 16956739 0.996000 0.38824 0.190000 0.23270 0.000000 0.00434 2.021000 0.41020 0.502000 0.28037 0.000000 0.15137 GGT NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 9 47.896088 KEEP 58 31 970 500 17472 CC 1 1 0 - 38 49 1106 0 0 74.865694 348 50 11662 1328 ENST00000455405.2 0.098446 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17084234 17084234 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17084234G>A ENST00000455405.2 - 0 560 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA GCAGTCCTGTGCACTATGCTC 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17084234G>A NA B7WPB1|Q13209 hg19 0.02 7.724817 TGTxCAC COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 6 25.235516 KEEP 52 27 792 363 12873 GG 1 1 0 - 41 49 1133 0 0 79.548571 282 60 9479 961 ENST00000455405.2 0.126935 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17085006 17085006 __UNKNOWN__ RNA SNP C C T rs201784242 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17085006C>T ENST00000455405.2 - 0 182 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA CGGATGGCCCCCAGCCACGCG 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17085006C>T NA B7WPB1|Q13209 hg19 0.02 11.090929 CCCxCAG COVERED . . . . . . . . . . . 11.84 1.758278 0.31137 . . ENSG00000186715 ENST00000389184;ENST00000334998;ENST00000442552 . . . . . . Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2); 0.000000 0.42964 D 0.000638 T 0.62636 0.2444 . . . . . . D;D 0.89917 1.0;1.0 D;D 0.85130 0.995;0.997 T 0.65524 -0.6147 6 0.35671 T 0.21 . 6.8326 0.23919 0.0:0.9999:0.0:1.0E-4 . 490;490 Q2TV78-2;Q2TV78 .;MSTP9_HUMAN E 459;490;490 . ENSP00000439273:G490E G - 2 0 MST1P9 16957593 0.982000 0.34865 0.000000 0.03702 0.000000 0.00434 2.313000 0.43735 -0.000000 0.14550 0.000000 0.15137 GGG NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 3 19.807003 KEEP 3 17 527 251 8696 CC 1 1 0 - 13 60 385 0 0 19.338678 426 60 14205 1028 ENST00000455405.2 0.029613 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17085485 17085485 __UNKNOWN__ IGR SNP G G A rs3863809 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17085485G>A NA NA MST1L (118 upstream) : RP11-108M9.1 (92330 downstream) NA NA NA ACCATTTCCAGGCTCTGGTCC 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17085485G>A NA hg19 0.02 5.569695 CCAxGCT COVERED NOVEL 0 2 6.80312 KEEP 15 11 343 143 4879 GG 1 1 0 9 27 269 0 0 14.796847 217 60 7137 512 0.039823 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17087389 17087389 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17087389G>T NA NA MST1L (2022 upstream) : RP11-108M9.1 (90426 downstream) NA NA NA GAAGGCACAGGGTAACGCCAC 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17087389G>T NA hg19 0.02 8.25341 CAGxGTA COVERED NOVEL 0 8 13.043832 KEEP 4 18 548 236 8033 GG 1 1 0 13 60 372 0 0 19.727077 314 60 10413 762 0.039755 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17087432 17087432 __UNKNOWN__ IGR SNP G G T rs2446554 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17087432G>T NA NA MST1L (2065 upstream) : RP11-108M9.1 (90383 downstream) NA NA NA GTCTTATCTAGGCCCAGTGGC 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17087432G>T NA hg19 0.02 9.586461 CTAxGCC COVERED NOVEL 0 4 17.092038 KEEP 2 16 472 223 7676 GG 1 1 0 40 49 1157 0 0 83.546183 262 60 8722 691 0.13245 1 CROCC 9696 __UNKNOWN__ __UNKNOWN__ 1 17262944 17262944 __UNKNOWN__ Intron SNP A A G rs386628995|rs7521985 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:17262944A>G ENST00000375541.5 + 9 1025 CROCC_ENST00000467938.1_Intron NM_014675.3 NP_055490.3 ciliary rootlet coiled-coil, rootletin NA NA breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ttgtatttgtagtagagatag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007914 CCDS30616.1 1p36.13 2010-06-04 2009-03-04 2009-03-04 ENSG00000058453 ENSG00000058453 9696 21299 protein-coding gene gene with protein product rootletin, ciliary rootlet protein 615776 NA 12427867, 17971504 Standard NM_014675 XM_006711056 NA Approved rootletin, ROLT uc001azt.2 Q5TZA2 OTTHUMG00000002200 ENST00000375541.5:c.957-188A>G chr1.hg19:g.17262944A>G NA hg19 CCDS30616.1 0.02 -0.114007 TGTxGTA UNCOVERED NOVEL CROCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006249.2 0 2.70824 KEEP 0 0 0 9 280 AA 0.99254 0.161255 0 + 3 60 103 0 0 8.932984 8 60 222 28 ENST00000375541.5 0.272727 0.162467 UBR4 23352 __UNKNOWN__ __UNKNOWN__ 1 19525325 19525325 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:19525325T>C ENST00000375254.3 - 4 503 c.476A>G c.(475-477)aAg>aGg p.K159R UBR4_ENST00000375217.2_Missense_Mutation_p.K159R|UBR4_ENST00000375226.2_Missense_Mutation_p.K159R|UBR4_ENST00000375267.2_Missense_Mutation_p.K159R NM_020765.2 NP_065816.2 Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 159 NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032) centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGGGGCAGCTTGGCGGATTT 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 140 139 139 NA NA NA 1 NA NA 19525325 2203 4300 6503 SO:0001583 missense AF348492 CCDS189.1 1p36.13 2008-06-23 2007-06-19 2007-06-19 ENSG00000127481 ENSG00000127481 23352 Ubiquitin protein ligase E3 component n-recognins 30313 protein-coding gene gene with protein product 609890 zinc finger, UBR1 type 1 ZUBR1 NA 14702039, 10718198, 16055722 Standard NM_020765 XM_005245802 NA Approved KIAA1307, KIAA0462, RBAF600 uc001bbi.3 Q5T4S7 OTTHUMG00000002498 ENST00000375254.3:c.476A>G chr1.hg19:g.19525325T>C ENSP00000364403:p.Lys159Arg NA A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82 hg19 CCDS189.1 0.02 2.061688 AGCxTGG COVERED . . . . . . . . . . T 20.7 4.027604 0.75390 . . ENSG00000127481 ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226 T;T;T;T 0.29142 1.59;1.59;1.58;1.58 5.4 5.4 0.78164 . 0.000000 0.85682 D 0.000000 T 0.43478 0.1249 L 0.38175 1.15 0.80722 D 1 P 0.52842 0.956 P 0.62184 0.899 T 0.37337 -0.9710 10 0.72032 D 0.01 . 14.2818 0.66219 0.0:0.0:0.0:1.0 . 159 Q5T4S7 UBR4_HUMAN R 159 ENSP00000364403:K159R;ENSP00000364416:K159R;ENSP00000364365:K159R;ENSP00000364374:K159R ENSP00000364365:K159R K - 2 0 UBR4 19397912 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 5.131000 0.64751 2.053000 0.61076 0.460000 0.39030 AAG NOVEL UBR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007085.1 1 31.279949 KEEP 0 0 0 104 3317 TT 1 0.987943 0 - 39 60 1325 0 0 134.235451 21 60 636 219 ENST00000375254.3 0.65 0.987943 MRTO4 51154 __UNKNOWN__ __UNKNOWN__ 1 19580672 19580672 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:19580672A>G ENST00000330263.4 + 2 325 MRTO4_ENST00000493700.1_Intron NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog (S. cerevisiae) NA NA ribosome biogenesis (GO:0042254) nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ttcgagaccaacctgggcaac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(192;2418 3032 7540 48714) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027569 CCDS191.1 1p36.13 2008-02-05 2006-12-21 2007-01-05 ENSG00000053372 ENSG00000053372 51154 18477 protein-coding gene gene with protein product chromosome 1 open reading frame 33, MRT4, mRNA turnover 4, homolog (S. cerevisiae) C1orf33 NA Standard NM_016183 NM_016183 NA Approved dJ657E11.4, MRT4 uc001bbs.3 Q9UKD2 OTTHUMG00000002496 ENST00000330263.4:c.29-604A>G chr1.hg19:g.19580672A>G NA B3KNB3|Q5TG55|Q96SS6|Q9BPV9 hg19 CCDS191.1 0.02 -0.210487 CCAxCCT COVERED NOVEL MRTO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007075.2 2 3.009297 KEEP 0 0 0 10 332 AA 0.992708 0.518353 0 + 4 60 136 0 0 11.06884 17 60 500 45 ENST00000330263.4 0.190476 0.522161 MRTO4 51154 __UNKNOWN__ __UNKNOWN__ 1 19585519 19585519 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:19585519A>G ENST00000330263.4 + 0 1212 NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog (S. cerevisiae) NA NA ribosome biogenesis (GO:0042254) nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) cactttgggaagccgaggtgg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(192;2418 3032 7540 48714) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027569 CCDS191.1 1p36.13 2008-02-05 2006-12-21 2007-01-05 ENSG00000053372 ENSG00000053372 51154 18477 protein-coding gene gene with protein product chromosome 1 open reading frame 33, MRT4, mRNA turnover 4, homolog (S. cerevisiae) C1orf33 NA Standard NM_016183 NM_016183 NA Approved dJ657E11.4, MRT4 uc001bbs.3 Q9UKD2 OTTHUMG00000002496 ENST00000330263.4:c.*195A>G chr1.hg19:g.19585519A>G NA B3KNB3|Q5TG55|Q96SS6|Q9BPV9 hg19 CCDS191.1 0.02 -0.438348 GGAxGCC COVERED NOVEL MRTO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007075.2 1 9.059673 KEEP 0 1 31 41 1242 AA 1 0.959859 0 + 4 60 137 0 0 9.595119 45 60 1274 111 ENST00000330263.4 0.081633 0.959859 ECE1 1889 __UNKNOWN__ __UNKNOWN__ 1 21648352 21648352 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:21648352A>G ENST00000415912.2 - 1 129 NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 NA NA bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814) early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093) endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803) endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) caagtgatccacccaccttgg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D49471 CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1 1p36.1 2008-02-05 ENSG00000117298 ENSG00000117298 1889 3146 protein-coding gene gene with protein product 600423 ECE NA 7805846, 7864876, 17592116 Standard NM_001397 NM_001397 NA Approved uc001bei.2 P42892 OTTHUMG00000002625 ENST00000415912.2:c.3+23516T>C chr1.hg19:g.21648352A>G NA A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501 hg19 CCDS44081.1 0.02 -0.043759 TCCxCCC UNCOVERED NOVEL ECE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007469.2 3 2.707063 KEEP 1 0 0 9 263 AA 0.99254 0.023894 0 - 2 60 67 0 0 6.454936 2 60 40 20 ENST00000415912.2 0.5 0.024074 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22161748 22161748 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:22161748G>C ENST00000374695.3 - 76 10533 NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 NA NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) tcctgagtaggtgggactaca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.10453+284C>G chr1.hg19:g.22161748G>C NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 1.765772 TAGxTGG COVERED NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 4 3.95657 KEEP 0 4 146 64 2177 GG 1 0.997163 0 - 4 60 141 0 0 9.404364 64 60 2100 169 ENST00000374695.3 0.058824 0.997163 CELA3B 23436 __UNKNOWN__ __UNKNOWN__ 1 22303616 22303616 __UNKNOWN__ Intron SNP A A G rs373080368 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:22303616A>G ENST00000337107.6 + 1 62 NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B NA NA cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 GGGCTGCCCTAGATTAGGAAT 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 163 155 158 NA NA NA 1 NA NA 22303616 2203 4300 6503 SO:0001627 intron_variant M18692 CCDS219.1 1p36.12 2009-05-05 2009-05-05 2009-05-05 ENSG00000219073 ENSG00000219073 23436 3.4.21.70 15945 protein-coding gene gene with protein product proteinase E, elastase 1, cholesterol-binding pancreatic protease, pancreatic endopeptidase E elastase 3B, pancreatic ELA3B NA 2826474, 2460440 Standard NM_007352 NM_007352 NA Approved CBPP uc001bfk.3 P08861 OTTHUMG00000002758 ENST00000337107.6:c.43+41A>G chr1.hg19:g.22303616A>G NA B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30 hg19 CCDS219.1 0.02 1.69579 CCTxGAT COVERED NOVEL CELA3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007797.1 2 15.474762 KEEP 1 4 130 97 2929 AA 1 0.99911 0 + 5 40 165 0 0 10.854372 72 60 2088 243 ENST00000337107.6 0.064935 0.99911 CELA3B 23436 __UNKNOWN__ __UNKNOWN__ 1 22303619 22303619 __UNKNOWN__ Intron SNP T T C rs374836173 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:22303619T>C ENST00000337107.6 + 1 62 NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B NA NA cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 CTGCCCTAGATTAGGAATCCT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 158 150 153 NA NA NA 1 NA NA 22303619 2203 4300 6503 SO:0001627 intron_variant M18692 CCDS219.1 1p36.12 2009-05-05 2009-05-05 2009-05-05 ENSG00000219073 ENSG00000219073 23436 3.4.21.70 15945 protein-coding gene gene with protein product proteinase E, elastase 1, cholesterol-binding pancreatic protease, pancreatic endopeptidase E elastase 3B, pancreatic ELA3B NA 2826474, 2460440 Standard NM_007352 NM_007352 NA Approved CBPP uc001bfk.3 P08861 OTTHUMG00000002758 ENST00000337107.6:c.43+44T>C chr1.hg19:g.22303619T>C NA B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30 hg19 CCDS219.1 0.02 1.631251 AGAxTAG COVERED NOVEL CELA3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007797.1 2 11.877784 KEEP 1 4 145 90 2871 TT 1 0.998465 0 + 4 40 134 0 0 8.579293 69 60 2055 231 ENST00000337107.6 0.054795 0.998465 LUZP1 7798 __UNKNOWN__ __UNKNOWN__ 1 23503650 23503650 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:23503650G>C ENST00000302291.4 - 1 318 Q86V48 LUZP1_HUMAN leucine zipper protein 1 NA NA artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281) membrane (GO:0016020)|nucleus (GO:0005634) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) tcccaaagtggtgggattaca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC051733 CCDS30628.1 1p36 2008-02-05 ENSG00000169641 ENSG00000169641 7798 14985 protein-coding gene gene with protein product 601422 NA 8812416 Standard NM_033631 NM_033631 NA Approved LUZP uc010odv.1 Q86V48 OTTHUMG00000003227 ENST00000302291.4:c.483+333C>G chr1.hg19:g.23503650G>C NA Q5TH93|Q8N4X3|Q8TEH1 hg19 CCDS30628.1 0.02 -0.219312 GTGxTGG COVERED NOVEL LUZP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008900.3 3 4.815631 KEEP 0 0 0 16 556 GG 0.997832 0.551689 0 - 3 60 104 0 0 7.905079 21 60 699 55 ENST00000302291.4 0.125 0.552887 GALE 2582 __UNKNOWN__ __UNKNOWN__ 1 24125066 24125066 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:24125066A>G ENST00000374497.3 - 4 329 GALE_ENST00000470383.1_5'UTR NM_000403.3|NM_001008216.1|NM_001127621.1 NP_000394.2|NP_001008217.1|NP_001121093.1 UDP-galactose-4-epimerase NA NA endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) aaagtgctggaattacaggcg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(17;142 583 2667 10036 24961) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC050685 CCDS242.1 1p36-p35 2012-10-02 2004-11-17 ENSG00000117308 ENSG00000117308 2582 5.1.3.2 Short chain dehydrogenase/reductase superfamily / Extended SDR fold 4116 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 1E, member 1, UDP-glucose 4-epimerase 606953 galactose-4-epimerase, UDP- NA 8593531, 19027726 Standard NM_000403 NM_001127621 NA Approved SDR1E1 uc009vqo.1 Q14376 OTTHUMG00000002958 ENST00000374497.3:c.237+38T>C chr1.hg19:g.24125066A>G NA hg19 CCDS242.1 0.02 1.681325 TGGxATT COVERED NOVEL GALE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008232.1 6 13.11056 KEEP 0 2 76 70 2217 AA 1 0.999895 0 - 5 60 169 0 0 10.954434 83 60 2500 214 ENST00000374497.3 0.056818 0.999895 GALE 2582 __UNKNOWN__ __UNKNOWN__ 1 24125385 24125385 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:24125385G>A ENST00000374497.3 - 3 204 c.113C>T c.(112-114)gCc>gTc p.A38V GALE_ENST00000470383.1_5'UTR NM_000403.3|NM_001008216.1|NM_001127621.1 NP_000394.2|NP_001008217.1|NP_001121093.1 UDP-galactose-4-epimerase NA NA endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) ACCACGGAAGGCATTATGGAA 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(17;142 583 2667 10036 24961) NA 0 104 107 106 NA NA NA 1 NA NA 24125385 2203 4300 6503 SO:0001583 missense BC050685 CCDS242.1 1p36-p35 2012-10-02 2004-11-17 ENSG00000117308 ENSG00000117308 2582 5.1.3.2 Short chain dehydrogenase/reductase superfamily / Extended SDR fold 4116 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 1E, member 1, UDP-glucose 4-epimerase 606953 galactose-4-epimerase, UDP- NA 8593531, 19027726 Standard NM_000403 NM_001127621 NA Approved SDR1E1 uc009vqo.1 Q14376 OTTHUMG00000002958 ENST00000374497.3:c.113C>T chr1.hg19:g.24125385G>A ENSP00000363621:p.Ala38Val NA hg19 CCDS242.1 0.02 2.964703 AAGxCAT COVERED . . . . . . . . . . G 18.58 3.654450 0.67472 . . ENSG00000117308 ENST00000374497;ENST00000425913;ENST00000445705 D;D;D 0.92397 -3.03;-3.03;-3.03 4.89 4.89 0.63831 NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1); 0.109388 0.64402 D 0.000008 D 0.93785 0.8013 M 0.64630 1.985 0.80722 D 1 P;B;B 0.36874 0.572;0.036;0.036 P;B;B 0.48654 0.585;0.148;0.148 D 0.94173 0.7425 10 0.66056 D 0.02 -14.4295 17.8437 0.88722 0.0:0.0:1.0:0.0 . 38;38;38 Q5QPP1;Q38G75;Q14376 .;.;GALE_HUMAN V 38 ENSP00000363621:A38V;ENSP00000393359:A38V;ENSP00000398257:A38V ENSP00000363621:A38V A - 2 0 GALE 23997972 1.000000 0.71417 1.000000 0.80357 0.478000 0.33099 7.628000 0.83189 2.551000 0.86045 0.563000 0.77884 GCC NOVEL GALE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008232.1 0 46.047308 KEEP 0 0 0 153 5324 GG 1 0.999998 0 - 27 60 778 0 0 63.467021 88 60 2982 351 ENST00000374497.3 0.234783 0.999998 SRRM1 10250 __UNKNOWN__ __UNKNOWN__ 1 24999057 24999057 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:24999057G>A ENST00000323848.9 + 0 3310 SRRM1_ENST00000374389.4_3'UTR|SRRM1_ENST00000447431.2_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AATACTGTTGGCATTTTTATG 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(68;897 1494 3282 17478) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF048977 CCDS255.1 1p36 2010-04-22 ENSG00000133226 ENSG00000133226 10250 16638 protein-coding gene gene with protein product Ser/Arg-related nuclear matrix protein, plenty of prolines 101-like 605975 NA 9531537 Standard NM_005839 NM_005839 NA Approved SRM160, POP101, MGC39488 uc001bjm.3 Q8IYB3 OTTHUMG00000003320 ENST00000323848.9:c.*280G>A chr1.hg19:g.24999057G>A NA O60585|Q5VVN4 hg19 CCDS255.1 0.02 1.225536 TTGxCAT COVERED NOVEL SRRM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009292.2 3 21.627994 KEEP 0 2 57 92 3209 GG 1 0.998696 0 + 10 60 270 0 0 19.248825 61 60 2064 222 ENST00000323848.9 0.140845 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 25200318 25200318 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:25200318T>C NA NA CLIC4 (29503 upstream) : RUNX3 (25683 downstream) NA NA NA ctttgggaggtcaaggcaggt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.25200318T>C NA hg19 0.02 -0.061396 AGGxCAA UNCOVERED NOVEL 0 3 2.407276 KEEP 0 0 0 8 257 TT 0.99257 0.043461 0 2 60 69 0 0 6.39316 3 60 86 23 0.4 0.043787 C1orf63 0 __UNKNOWN__ __UNKNOWN__ 1 25586015 25586015 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:25586015A>G ENST00000450820.2 - 2 146 Q9BUV0 RSRP1_HUMAN NA NA breast(1)|large_intestine(1)|lung(4)|pancreas(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ttttttttgaaacggagtctc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000450820.2:c.825-5587T>C chr1.hg19:g.25586015A>G NA A8K917|Q49AA4|Q5TH71|Q9GZP6 hg19 0.02 -0.420524 TGAxACG COVERED NOVEL C1orf63-021 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000420930.1 9 7.778772 KEEP 0 2 48 43 1250 AA 1 0.948402 0 - 4 51 134 0 0 9.334519 44 60 1156 107 ENST00000450820.2 0.083333 0.948402 RHD 6007 __UNKNOWN__ __UNKNOWN__ 1 25614898 25614898 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:25614898A>T ENST00000328664.4 + 3 490 RHD_ENST00000342055.5_Intron|RHD_ENST00000423253.1_Intron|RHD_ENST00000568195.1_Intron|RHD_ENST00000417538.2_Intron|RHD_ENST00000423810.2_Intron|RHD_ENST00000357542.4_Intron|RHD_ENST00000454452.2_Intron NM_001282867.1|NM_016124.3 NP_001269796.1|NP_057208 Q02161 RHD_HUMAN Rh blood group, D antigen NA NA integral component of plasma membrane (GO:0005887) ammonium transmembrane transporter activity (GO:0008519) breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ctcaaactccaggccttaagc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB012623 CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1 1p36.11 2014-07-19 2013-10-02 ENSG00000187010 ENSG00000187010 6007 CD molecules, Blood group antigens 10009 protein-coding gene gene with protein product 111680 Rhesus blood group, D antigen, Rh blood group, D antigen RH NA 8220426 Standard NM_016124 NM_016124 NA Approved Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D uc001bjz.3 Q02161 OTTHUMG00000003476 ENST00000328664.4:c.336-2234A>T chr1.hg19:g.25614898A>T NA Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23 hg19 CCDS262.1 0.02 -0.096436 TCCxGGC UNCOVERED NOVEL RHD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009660.5 2 2.407373 KEEP 3 0 0 8 255 AA 0.99257 0.119541 0 + 3 60 84 0 0 7.343188 6 60 164 29 ENST00000328664.4 0.333333 0.120436 UBXN11 91544 __UNKNOWN__ __UNKNOWN__ 1 26608885 26608885 __UNKNOWN__ Missense_Mutation SNP C C T rs201454352 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:26608885C>T ENST00000374222.1 - 16 1932 c.1468G>A c.(1468-1470)Ggt>Agt p.G490S UBXN11_ENST00000357089.4_Missense_Mutation_p.G457S|UBXN11_ENST00000374221.3_Missense_Mutation_p.G490S|UBXN11_ENST00000314675.7_Missense_Mutation_p.G370S|UBXN11_ENST00000374223.1_Missense_Mutation_p.G247S|UBXN11_ENST00000374217.2_Missense_Mutation_p.G457S Q5T124 UBX11_HUMAN UBX domain protein 11 490 3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich. NA Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}. cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gggccgggaccgggaccggga 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Deletion - In frame(1) ovary(1) 40 50 47 NA NA NA 1 NA NA 26608885 1828 4053 5881 SO:0001583 missense AF521017 CCDS41286.1, CCDS41287.1, CCDS41288.1 1p36.11 2008-07-25 2008-07-25 2008-07-25 ENSG00000158062 ENSG00000158062 91544 UBX domain containing 30600 protein-coding gene gene with protein product socius 609151 UBX domain containing 5 UBXD5 NA 11940653 Standard NM_145345 NM_183008 NA Approved SOC, SOCI uc001blw.3 Q5T124 OTTHUMG00000003382 ENST00000374222.1:c.1468G>A chr1.hg19:g.26608885C>T ENSP00000363339:p.Gly490Ser NA D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6 hg19 CCDS41288.1 0.02 2.858012 GACxGGG COVERED . . . . . . . . . . - 2.886 -0.230636 0.05983 . . ENSG00000158062 ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217 T;T;T;T;T;T 0.22945 1.93;2.02;2.37;2.3;2.3;2.37 2.5 -2.32 0.06745 . 2.616560 0.01918 N 0.040283 T 0.06096 0.0158 N 0.00926 -1.1 0.09310 N 0.999997 B;B;B;B 0.06786 0.001;0.0;0.001;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.28004 -1.0057 10 0.02654 T 1 . 0.4862 0.00556 0.1926:0.2649:0.1644:0.378 . 457;452;370;490 Q5T124-2;Q5T124-4;Q5T124-3;Q5T124 .;.;.;UBX11_HUMAN S 370;247;457;490;490;457 ENSP00000324721:G370S;ENSP00000363340:G247S;ENSP00000349601:G457S;ENSP00000363338:G490S;ENSP00000363339:G490S;ENSP00000363334:G457S ENSP00000324721:G370S G - 1 0 UBXN11 26481472 0.000000 0.05858 0.001000 0.08648 0.033000 0.12548 -1.097000 0.03349 -0.363000 0.08101 0.472000 0.43445 GGT NOVEL UBXN11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000009500.1 0 3.115731 KEEP 0 2 64 33 1065 CC 0.999999 0.999996 0 - 14 60 397 0 0 28.245277 95 60 3152 185 ENST00000374222.1 0.12844 0.999998 UBXN11 91544 __UNKNOWN__ __UNKNOWN__ 1 26608889 26608889 __UNKNOWN__ Silent SNP A A T rs376181141|rs202239787 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:26608889A>T ENST00000374222.1 - 16 1928 c.1464T>A c.(1462-1464)ggT>ggA p.G488G UBXN11_ENST00000357089.4_Silent_p.G455G|UBXN11_ENST00000374221.3_Silent_p.G488G|UBXN11_ENST00000314675.7_Silent_p.G368G|UBXN11_ENST00000374223.1_Silent_p.G245G|UBXN11_ENST00000374217.2_Silent_p.G455G Q5T124 UBX11_HUMAN UBX domain protein 11 488 3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich. NA Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}. cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 cgggaccgggaccgggacagg 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Deletion - In frame(1) ovary(1) 45 56 53 NA NA NA 1 NA NA 26608889 1844 4065 5909 SO:0001819 synonymous_variant AF521017 CCDS41286.1, CCDS41287.1, CCDS41288.1 1p36.11 2008-07-25 2008-07-25 2008-07-25 ENSG00000158062 ENSG00000158062 91544 UBX domain containing 30600 protein-coding gene gene with protein product socius 609151 UBX domain containing 5 UBXD5 NA 11940653 Standard NM_145345 NM_183008 NA Approved SOC, SOCI uc001blw.3 Q5T124 OTTHUMG00000003382 ENST00000374222.1:c.1464T>A chr1.hg19:g.26608889A>T NA D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6 hg19 CCDS41288.1 0.02 2.787807 GGGxCCG COVERED NOVEL UBXN11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000009500.1 0 4.117581 KEEP 0 2 66 37 1111 AA 1 0.999999 0 - 15 60 404 0 0 28.242525 100 60 2908 203 ENST00000374222.1 0.130435 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 27346174 27346174 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:27346174T>G NA NA FAM46B (6847 upstream) : SLC9A1 (79131 downstream) NA NA NA aaagtgctggtattacaggtg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.27346174T>G NA hg19 0.02 -0.184052 TGGxATT COVERED NOVEL 0 5 3.309369 KEEP 0 0 0 11 334 TT 0.993072 0.420544 0 4 37 135 0 0 11.064669 16 60 438 42 0.2 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 27424577 27424577 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:27424577A>G NA NA FAM46B (85250 upstream) : SLC9A1 (728 downstream) NA NA NA gattacaggcatgagccaccg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.27424577A>G NA hg19 0.02 -0.175392 GGCxTGA COVERED NOVEL 0 4 2.407316 KEEP 0 0 0 8 254 AA 0.99257 0.384528 0 3 60 97 0 0 7.692448 14 60 399 43 0.176471 0.387407 IFI6 2537 __UNKNOWN__ __UNKNOWN__ 1 27992946 27992946 __UNKNOWN__ Silent SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:27992946G>A ENST00000362020.4 - 5 458 c.351C>T c.(349-351)gcC>gcT p.A117A IFI6_ENST00000361157.6_Silent_p.A113A|IFI6_ENST00000339145.4_Silent_p.A121A P09912 IFI6_HUMAN interferon, alpha-inducible protein 6 113 NA cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) lung(1)|ovary(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGCCCATCAGGGCACCAATAT 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 79 69 72 NA NA NA 1 NA NA 27992946 2203 4300 6503 SO:0001819 synonymous_variant BC015603 CCDS306.1, CCDS307.1, CCDS308.1 1p35 2008-02-05 2006-04-21 2006-04-21 ENSG00000126709 ENSG00000126709 2537 4054 protein-coding gene gene with protein product 147572 interferon, alpha-inducible protein (clone IFI-6-16) G1P3 NA Standard NM_022873 NM_002038 NA Approved IFI616, FAM14C, 6-16, IFI-6-16 uc001bon.1 P09912 OTTHUMG00000003518 ENST00000362020.4:c.351C>T chr1.hg19:g.27992946G>A NA Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8 hg19 CCDS307.1 0.02 0.834217 CAGxGCA COVERED NOVEL IFI6-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000009781.1 5 26.11852 KEEP 0 1 32 98 3392 GG 1 0.999726 0 - 6 60 153 0 0 8.712387 81 60 2690 251 ENST00000362020.4 0.068966 0.999726 RPA2 6118 __UNKNOWN__ __UNKNOWN__ 1 28220389 28220389 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:28220389A>G ENST00000373912.3 - 8 1028 RPA2_ENST00000373909.3_Intron|RPA2_ENST00000313433.7_Intron NM_002946.3 NP_002937.1 P15927 RFA2_HUMAN replication protein A2, 32kDa NA NA base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1) 11 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) caaagtgctgagattacaggc 0.493 NA Direct reversal of damage;Nucleotide excision repair (NER) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC021257 CCDS314.1, CCDS72740.1 1p35 2008-02-05 2002-08-29 ENSG00000117748 ENSG00000117748 6118 10290 protein-coding gene gene with protein product 179836 replication protein A2 (32kD) NA 8454588 Standard NM_002946 XM_005245965 NA Approved uc001bpe.1 P15927 OTTHUMG00000003915 ENST00000373912.3:c.728+133T>C chr1.hg19:g.28220389A>G NA Q52II0|Q5TEI9|Q5TEJ5 hg19 CCDS314.1 0.02 1.926909 CTGxGAT COVERED NOVEL RPA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011179.1 7 2.578896 KEEP 4 2 70 33 1076 AA 0.999999 0.992924 0 - 7 60 242 0 0 18.102673 54 60 1631 133 ENST00000373912.3 0.114754 0.992926 PHACTR4 65979 __UNKNOWN__ __UNKNOWN__ 1 28825541 28825541 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:28825541C>T ENST00000373836.3 + 0 4833 PHACTR4_ENST00000373839.3_3'UTR NM_023923.3 NP_076412.3 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 NA NA actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266) cytoplasm (GO:0005737)|lamellipodium (GO:0030027) actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) gattgcaccactgcactccag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF130081 CCDS41293.1, CCDS41294.1 1p35.2 2014-06-13 ENSG00000204138 ENSG00000204138 65979 Phosphatase and actin regulators 25793 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 124 608726 NA 11483580, 15107502 Standard NM_023923 NM_023923 NA Approved FLJ13171, PPP1R124 uc001bpy.3 Q8IZ21 OTTHUMG00000003541 ENST00000373836.3:c.*2480C>T chr1.hg19:g.28825541C>T NA A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6 hg19 CCDS41294.1 0.02 0.984697 CCAxTGC COVERED NOVEL PHACTR4-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158544.1 5 10.000704 KEEP 1 2 59 54 1879 CC 1 0.999317 0 + 5 60 133 0 0 8.01334 61 60 2047 153 ENST00000373836.3 0.075758 0.999317 PHACTR4 65979 __UNKNOWN__ __UNKNOWN__ 1 28825559 28825559 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:28825559A>G ENST00000373836.3 + 0 4851 PHACTR4_ENST00000373839.3_3'UTR NM_023923.3 NP_076412.3 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 NA NA actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266) cytoplasm (GO:0005737)|lamellipodium (GO:0030027) actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) cagcctgggcaacagagcgag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF130081 CCDS41293.1, CCDS41294.1 1p35.2 2014-06-13 ENSG00000204138 ENSG00000204138 65979 Phosphatase and actin regulators 25793 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 124 608726 NA 11483580, 15107502 Standard NM_023923 NM_023923 NA Approved FLJ13171, PPP1R124 uc001bpy.3 Q8IZ21 OTTHUMG00000003541 ENST00000373836.3:c.*2498A>G chr1.hg19:g.28825559A>G NA A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6 hg19 CCDS41294.1 0.02 1.482134 GGCxACA COVERED NOVEL PHACTR4-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158544.1 14 13.273813 KEEP 1 1 28 54 1708 AA 1 0.999895 0 + 4 60 129 1 1 8.032976 71 60 2115 197 ENST00000373836.3 0.053333 0.999895 PHACTR4 65979 __UNKNOWN__ __UNKNOWN__ 1 28825734 28825734 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:28825734G>A ENST00000373836.3 + 0 5026 PHACTR4_ENST00000373839.3_3'UTR NM_023923.3 NP_076412.3 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 NA NA actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266) cytoplasm (GO:0005737)|lamellipodium (GO:0030027) actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) tgcaacctccgcctcccgggt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF130081 CCDS41293.1, CCDS41294.1 1p35.2 2014-06-13 ENSG00000204138 ENSG00000204138 65979 Phosphatase and actin regulators 25793 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 124 608726 NA 11483580, 15107502 Standard NM_023923 NM_023923 NA Approved FLJ13171, PPP1R124 uc001bpy.3 Q8IZ21 OTTHUMG00000003541 ENST00000373836.3:c.*2673G>A chr1.hg19:g.28825734G>A NA A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6 hg19 CCDS41294.1 0.02 -0.368369 TCCxCCT COVERED NOVEL PHACTR4-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158544.1 2 6.849099 KEEP 1 1 23 31 1018 GG 0.999997 0.899311 0 + 5 60 135 0 1 9.660279 30 60 1003 77 ENST00000373836.3 0.142857 0.899314 YTHDF2 51441 __UNKNOWN__ __UNKNOWN__ 1 29070330 29070330 __UNKNOWN__ Silent SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:29070330G>A ENST00000373812.3 + 4 1910 c.1548G>A c.(1546-1548)gaG>gaA p.E516E YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Silent_p.E516E|YTHDF2_ENST00000541996.1_Silent_p.E466E NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 516 Interaction with m6A-containing mRNAs.|YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}. NA humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488) cytoplasmic mRNA processing body (GO:0000932) N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TTCGCCTAGAGAACAACGAGA 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 64 63 64 NA NA NA 1 NA NA 29070330 1922 4133 6055 SO:0001819 synonymous_variant AF155095 CCDS41296.1, CCDS53287.1 1p35 2008-02-05 2004-11-16 ENSG00000198492 ENSG00000198492 51441 31675 protein-coding gene gene with protein product 610640 YTH domain family 2 NA 10508479 Standard NM_016258 NM_016258 NA Approved HGRG8, NY-REN-2 uc021okf.1 Q9Y5A9 OTTHUMG00000003648 ENST00000373812.3:c.1548G>A chr1.hg19:g.29070330G>A NA A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5 hg19 CCDS41296.1 0.02 -0.385922 AGAxAAC COVERED NOVEL YTHDF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010335.1 1 12.339215 KEEP 0 0 0 41 1396 GG 1 0.918171 0 + 4 60 104 0 0 6.500102 40 60 1283 98 ENST00000373812.3 0.090909 0.918171 OPRD1 4985 __UNKNOWN__ __UNKNOWN__ 1 29154468 29154468 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:29154468G>A ENST00000234961.2 + 1 469 NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930) axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982) enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193) ggctggtctcgagctcctggc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U10504 CCDS329.1 1p36.1-p34.3 2012-08-08 ENSG00000116329 ENSG00000116329 4985 GPCR / Class A : Opioid receptors 8153 protein-coding gene gene with protein product 165195 NA 8415697 Standard NM_000911 NM_000911 NA Approved uc001brf.1 P41143 OTTHUMG00000003646 ENST00000234961.2:c.227+15346G>A chr1.hg19:g.29154468G>A NA B5B0B8 hg19 CCDS329.1 0.02 -0.149114 CTCxAGC COVERED NOVEL OPRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010330.1 2 3.009605 KEEP 0 0 0 10 345 GG 0.992708 0.289872 0 + 3 60 86 0 0 6.679211 13 60 417 38 ENST00000234961.2 0.1875 0.292001 EPB41 2035 __UNKNOWN__ __UNKNOWN__ 1 29314556 29314556 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:29314556A>C ENST00000343067.4 + 2 595 EPB41_ENST00000349460.4_Intron|EPB41_ENST00000398863.2_Intron|EPB41_ENST00000356093.2_Intron|EPB41_ENST00000373798.1_Intron|EPB41_ENST00000347529.3_Intron|EPB41_ENST00000373797.1_Intron|EPB41_ENST00000373800.3_Intron NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 NA NA actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092) cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) 1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) aggcggatcaactgaggtcag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC039079 CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1 1p33-p32 2014-05-09 2014-05-09 ENSG00000159023 ENSG00000159023 2035 3377 protein-coding gene gene with protein product 130500 elliptocytosis 1, RH-linked EL1 NA Standard NM_203342 NM_001166005 NA Approved 4.1R uc001brm.2 P11171 OTTHUMG00000003644 ENST00000343067.4:c.468+139A>C chr1.hg19:g.29314556A>C NA B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579 hg19 CCDS53288.1 0.02 -0.140316 TCAxCTG COVERED NOVEL EPB41-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010312.1 4 2.406892 KEEP 0 0 0 8 241 AA 0.99257 0.259026 0 + 3 60 96 0 0 7.873182 11 60 314 31 ENST00000343067.4 0.214286 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 29460020 29460020 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:29460020T>C NA NA TMEM200B (9573 upstream) : RP11-242O24.3 (10985 downstream) NA NA NA ccagcctgggtgacagagcaa 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.29460020T>C NA hg19 0.02 -0.192914 GGGxGAC COVERED NOVEL 0 8 2.40635 KEEP 4 0 0 8 235 TT 0.99257 0.454356 0 3 60 90 0 0 6.693394 18 60 511 41 0.142857 0.457757 MATN1 4146 __UNKNOWN__ __UNKNOWN__ 1 31186257 31186257 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:31186257T>C ENST00000373765.4 - 0 1698 NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein NA NA extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) catgcacacatacacacacgc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M55675 CCDS336.1 1p35 2008-02-05 ENSG00000162510 ENSG00000162510 4146 6907 protein-coding gene gene with protein product 115437 CRTM, CMP NA 2246248, 9083061 Standard NM_002379 NM_002379 NA Approved uc001brz.3 P21941 OTTHUMG00000003705 ENST00000373765.4:c.*172A>G chr1.hg19:g.31186257T>C NA B2R7E3|Q5TBB9 hg19 CCDS336.1 0.02 1.18461 ACAxACA COVERED NOVEL MATN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010458.1 7 6.668497 KEEP 0 2 62 44 1228 TT 1 0.999881 0 - 5 60 141 1 0 8.188208 83 70 2223 173 ENST00000373765.4 0.056818 0.999881 NKAIN1 79570 __UNKNOWN__ __UNKNOWN__ 1 31656569 31656569 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:31656569G>A ENST00000373736.2 - 4 478 NKAIN1_ENST00000263693.1_Intron|NKAIN1_ENST00000398657.2_Intron NM_024522.2 NP_078798.2 Q4KMZ8 NKAI1_HUMAN Na+/K+ transporting ATPase interacting 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148) tgctgggattgcaggcgtgag 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022712 CCDS339.1, CCDS339.2 1p35.2 2010-06-25 2007-10-04 2007-10-04 ENSG00000084628 ENSG00000084628 79570 Na+/K+ transporting ATPase interacting 25743 protein-coding gene gene with protein product 612871 family with sequence similarity 77, member C FAM77C NA 17606467 Standard NM_024522 NM_024522 NA Approved FLJ12650 uc010ogd.2 Q4KMZ8 OTTHUMG00000003788 ENST00000373736.2:c.471+94C>T chr1.hg19:g.31656569G>A NA A2VDJ3|B7Z5F5|B7Z5W9|Q9H9M7 hg19 CCDS339.2 0.02 2.766882 ATTxCAG COVERED NOVEL NKAIN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010655.2 12 10.2337 KEEP 1 0 0 34 1235 GG 0.999998 0.999995 0 - 8 60 230 0 0 14.515546 98 60 3257 187 ENST00000373736.2 0.075472 0.999997 IQCC 55721 __UNKNOWN__ __UNKNOWN__ 1 32674197 32674197 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:32674197A>T ENST00000291358.6 + 0 1936 IQCC_ENST00000537469.1_3'UTR NM_018134.2 NP_060604.2 Q4KMZ1 IQCC_HUMAN IQ motif containing C NA NA endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) agagcgagacacggtctcaaa 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL049795 CCDS355.1, CCDS53293.1 1p36.11-p34.2 2008-02-05 ENSG00000160051 ENSG00000160051 55721 25545 protein-coding gene gene with protein product NA Standard NM_018134 NM_018134 NA Approved FLJ10547 uc001bum.2 Q4KMZ1 OTTHUMG00000005739 ENST00000291358.6:c.*514A>T chr1.hg19:g.32674197A>T NA F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3 hg19 CCDS355.1 0.02 3.10532 GACxCGG COVERED NOVEL IQCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000015731.3 14 3.779426 KEEP 0 2 61 34 1070 AA 0.999999 0.999977 0 + 7 60 211 2 0 13.699074 85 60 2508 206 ENST00000291358.6 0.076087 0.999978 HDAC1 3065 __UNKNOWN__ __UNKNOWN__ 1 32758693 32758693 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:32758693T>G ENST00000373548.3 + 1 133 HDAC1_ENST00000373541.2_Intron NM_004964.2 NP_004955.2 Q13547 HDAC1_HUMAN histone deacetylase 1 NA NA ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580) activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) aggccgaggctggtggatcac 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50405 CCDS360.1 1p34 2008-02-05 ENSG00000116478 ENSG00000116478 3065 4852 protein-coding gene gene with protein product 601241 RPD3L1 NA 8602529 Standard NM_004964 NM_004964 NA Approved HD1, GON-10 uc001bvb.1 Q13547 OTTHUMG00000007529 ENST00000373548.3:c.49+874T>G chr1.hg19:g.32758693T>G NA Q92534 hg19 CCDS360.1 0.02 -0.219261 GGCxGGT UNCOVERED NOVEL HDAC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019815.3 9 2.40718 KEEP 13 0 0 8 247 TT 0 0 0 + 3 60 98 1 0 7.427175 19 60 565 68 ENST00000373548.3 0.136364 0.552887 ZBTB8A 653121 __UNKNOWN__ __UNKNOWN__ 1 33058388 33058388 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:33058388A>C ENST00000373510.4 + 3 228 RP1-27O5.3_ENST00000480336.1_Intron|ZBTB8A_ENST00000316459.4_Intron NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 ggattacaggagtgagccact 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF548353 CCDS30664.1 1p34.3 2013-01-08 2009-03-25 2009-03-25 ENSG00000160062 ENSG00000160062 653121 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 24172 protein-coding gene gene with protein product zinc finger and BTB domain containing 8 ZBTB8 NA 12477932 Standard NM_144621 NM_001040441 NA Approved BOZF1, FLJ90065, ZNF916A uc001bvn.3 Q96BR9 OTTHUMG00000007855 ENST00000373510.4:c.-1-144A>C chr1.hg19:g.33058388A>C NA Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0 hg19 CCDS30664.1 0.02 -0.236828 AGGxGTG COVERED NOVEL ZBTB8A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021665.2 6 5.717107 KEEP 0 0 0 19 610 AA 0.99986 0.641257 0 + 3 60 96 0 0 7.106239 21 60 645 54 ENST00000373510.4 0.125 0.641347 AK2 204 __UNKNOWN__ __UNKNOWN__ 1 33478611 33478611 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:33478611T>C ENST00000373449.2 - 6 736 AK2_ENST00000467905.1_Intron|AK2_ENST00000491241.1_Intron|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Intron NM_001199199.1|NM_013411.4 NP_001186128.1|NP_037543.1 adenylate kinase 2 NA NA kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) acaacacacatacacacaGAT 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 40 41 NA NA NA 1 NA NA 33478611 876 1991 2867 SO:0001627 intron_variant U84371 CCDS373.1, CCDS374.1 1p35.1 2014-09-17 ENSG00000004455 ENSG00000004455 204 2.7.4.3 Adenylate kinases 362 protein-coding gene gene with protein product 103020 NA 8843353, 6961883 Standard NM_001625 NM_013411 NA Approved uc001bwp.2 P54819 OTTHUMG00000004131 ENST00000373449.2:c.694+196A>G chr1.hg19:g.33478611T>C NA hg19 CCDS373.1 0.02 1.716111 ACAxACA COVERED NOVEL AK2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000011884.1 4 11.262773 KEEP 0 1 36 50 1422 TT 1 0.973965 0 - 4 70 135 1 0 9.253284 49 70 1332 107 ENST00000373449.2 0.075472 0.973965 SMIM12 113444 __UNKNOWN__ __UNKNOWN__ 1 35319844 35319844 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:35319844A>G ENST00000521580.2 - 0 1879 NM_001164824.1|NM_001164825.1|NM_138428.5 NP_001158296.1|NP_001158297.1|NP_612437.3 Q96EX1 SIM12_HUMAN small integral membrane protein 12 NA NA integral component of membrane (GO:0016021) NA aggaggcagaagttgcagtca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS53295.1 1p34.3 2012-12-03 2012-12-03 2012-12-03 ENSG00000163866 ENSG00000163866 113444 25154 protein-coding gene gene with protein product chromosome 1 open reading frame 212 C1orf212 NA 12477932 Standard NM_138428 NM_138428 NA Approved FLJ90372 uc001byb.3 Q96EX1 OTTHUMG00000004375 ENST00000521580.2:c.*1456T>C chr1.hg19:g.35319844A>G NA D3DPR5|Q49AP7|Q52LP9|Q8NCB4 hg19 CCDS53295.1 0.02 3.783038 AGAxGTT COVERED NOVEL SMIM12-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000012715.3 10 3.948917 KEEP 0 1 37 26 867 AA 0.999988 0.999961 0 - 6 60 195 0 0 12.597951 91 60 2709 158 ENST00000521580.2 0.061856 0.999973 PSMB2 5690 __UNKNOWN__ __UNKNOWN__ 1 36067694 36067694 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:36067694A>G ENST00000373237.3 - 0 2191 NM_002794.4 NP_002785.1 P49721 PSB2_HUMAN proteasome (prosome, macropain) subunit, beta type, 2 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839) threonine-type endopeptidase activity (GO:0004298) endometrium(1)|large_intestine(2) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) Bortezomib(DB00188)|Carfilzomib(DB08889) agcactgggaagccaaggcag 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D26599 CCDS394.1, CCDS72755.1 1p34.2 2008-02-05 ENSG00000126067 ENSG00000126067 5690 Proteasome (prosome, macropain) subunits 9539 protein-coding gene gene with protein product 602175 NA 7918633 Standard NM_002794 NM_002794 NA Approved HC7-I uc001bzf.2 P49721 OTTHUMG00000004169 ENST00000373237.3:c.*1174T>C chr1.hg19:g.36067694A>G NA D3DPS0|P31145|Q9BWZ9 hg19 CCDS394.1 0.02 1.660643 GGAxGCC COVERED NOVEL PSMB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000012016.1 14 11.134763 KEEP 0 0 0 37 1211 AA 1 0.999487 0 - 5 60 176 0 0 11.866414 75 60 2238 160 ENST00000373237.3 0.0625 0.999487 CLSPN 63967 __UNKNOWN__ __UNKNOWN__ 1 36186127 36186127 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:36186127C>T ENST00000251195.5 - 0 4460 Q9HAW4 CLSPN_HUMAN claspin NA NA activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105) nucleoplasm (GO:0005654) anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677) NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ctcggctcaccgcaacctcca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF297866 CCDS396.1, CCDS53297.1 1p34.3 2010-06-24 2010-06-24 ENSG00000092853 ENSG00000092853 63967 19715 protein-coding gene gene with protein product 605434 claspin homolog (Xenopus laevis) NA 11090622, 12766152 Standard NM_022111 NM_022111 NA Approved uc001bzi.3 Q9HAW4 OTTHUMG00000004168 ENST00000251195.5:c.*365G>A chr1.hg19:g.36186127C>T NA A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1 hg19 0.02 -0.36834 CACxGCA COVERED NOVEL CLSPN-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000012014.4 44 2.842016 KEEP 48 1 30 20 640 CC 0.992708 0.892756 0 - 5 60 129 0 0 8.751805 35 70 1097 118 ENST00000251195.5 0.125 0.899314 CLSPN 63967 __UNKNOWN__ __UNKNOWN__ 1 36186326 36186326 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:36186326C>T ENST00000251195.5 - 0 4261 Q9HAW4 CLSPN_HUMAN claspin NA NA activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105) nucleoplasm (GO:0005654) anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677) NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ggattacaggcgtgagccacc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF297866 CCDS396.1, CCDS53297.1 1p34.3 2010-06-24 2010-06-24 ENSG00000092853 ENSG00000092853 63967 19715 protein-coding gene gene with protein product 605434 claspin homolog (Xenopus laevis) NA 11090622, 12766152 Standard NM_022111 NM_022111 NA Approved uc001bzi.3 Q9HAW4 OTTHUMG00000004168 ENST00000251195.5:c.*166G>A chr1.hg19:g.36186326C>T NA A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1 hg19 0.02 4.010979 AGGxGTG COVERED NOVEL CLSPN-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000012014.4 35 13.31731 KEEP 2 5 159 100 3486 CC 1 1 0 - 7 60 202 0 0 10.776475 170 60 5552 411 ENST00000251195.5 0.039548 1 STK40 83931 __UNKNOWN__ __UNKNOWN__ 1 36824759 36824759 __UNKNOWN__ Intron SNP A A G rs189212655 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:36824759A>G ENST00000373129.3 - 4 519 STK40_ENST00000359297.2_Intron|STK40_ENST00000373130.3_Intron|STK40_ENST00000373132.3_Intron|STK40_ENST00000482458.1_Intron NM_032017.1 NP_114406.1 Q8N2I9 STK40_HUMAN serine/threonine kinase 40 NA NA glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) tgtaatcccaacactttggga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008344 CCDS407.1, CCDS60089.1 1p34.3 2008-02-05 ENSG00000196182 ENSG00000196182 83931 21373 protein-coding gene gene with protein product 609437 NA Standard NM_032017 NM_032017 NA Approved MGC4796, SgK495 uc001cak.1 Q8N2I9 OTTHUMG00000008238 ENST00000373129.3:c.113-336T>C chr1.hg19:g.36824759A>G NA D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6 hg19 CCDS407.1 0.02 -0.263132 CCAxCAC COVERED NOVEL STK40-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000022592.1 8 4.213063 KEEP 1 0 0 14 450 AA 0.994391 0.689777 0 - 3 47 106 0 0 7.942065 24 60 725 62 ENST00000373129.3 0.111111 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 36865503 36865503 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:36865503G>T NA NA LSM10 (2010 upstream) : RNU4-27P (2818 downstream) NA NA NA atttttttttgtttttgagat 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.36865503G>T NA hg19 0.02 -0.263077 TTTxTTT COVERED NOVEL 0 11 2.407727 KEEP 2 0 0 8 285 GG 0.99257 0.711986 0 4 60 109 0 0 7.697592 26 60 868 57 0.133333 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 36917715 36917715 __UNKNOWN__ IGR SNP T T C rs547582079 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:36917715T>C NA NA OSCP1 (1629 upstream) : MRPS15 (3603 downstream) NA NA NA tcccaaagtgttgggattaca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.36917715T>C NA hg19 0.02 -0.219276 GTGxTGG COVERED NOVEL 0 9 4.513353 KEEP 8 0 0 15 473 TT 0.993634 0.549368 0 3 60 106 0 0 8.226658 19 60 573 67 0.136364 0.552887 SF3A3 10946 __UNKNOWN__ __UNKNOWN__ 1 38456374 38456374 __UNKNOWN__ 5'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:38456374A>G ENST00000373019.4 - 0 219 NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa NA NA gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375) catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) gaacccgggaagcagaggttg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U08815 CCDS428.1 1p34.3 2012-06-07 2002-08-29 ENSG00000183431 ENSG00000183431 10946 10767 protein-coding gene gene with protein product 605596 splicing factor 3a, subunit 3, 60kD NA 7816610, 8022796 Standard NM_006802 NM_006802 NA Approved SF3a60, SAP61, PRP9, PRPF9 uc001cci.3 Q12874 OTTHUMG00000004438 ENST00000373019.4:c.-737T>C chr1.hg19:g.38456374A>G NA D3DPT5|Q15460|Q5VT87 hg19 CCDS428.1 0.02 1.614157 GGAxGCA COVERED NOVEL SF3A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000012976.1 3 10.666104 KEEP 0 1 33 47 1497 AA 1 0.998867 0 - 8 60 244 1 0 17.423976 62 70 1796 136 ENST00000373019.4 0.114286 0.998867 GJA9 81025 __UNKNOWN__ __UNKNOWN__ 1 39341977 39341977 __UNKNOWN__ 5'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:39341977C>A ENST00000360786.3 - 0 46 GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Intron|MYCBP_ENST00000489803.1_Intron P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa NA NA cell communication (GO:0007154) connexon complex (GO:0005922)|integral component of membrane (GO:0016021) breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) acagagtctccctctgttgcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF179597 CCDS432.1 1p34 2008-02-05 2007-11-06 2007-11-06 ENSG00000131233 ENSG00000131233 81025 Ion channels / Gap junction proteins (connexins) 19155 protein-coding gene gene with protein product connexin 59 611923 gap junction protein, alpha 10, 59kDa GJA10 NA Standard NM_030772 NM_030772 NA Approved CX59, CX58 uc021olr.1 P57773 OTTHUMG00000000482 ENST00000360786.3:c.-207G>T chr1.hg19:g.39341977C>A NA B2R722|B3KVQ2|Q5TA63|Q96KG0 hg19 CCDS432.1 0.02 2.83695 CTCxCTC COVERED NOVEL GJA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001205.1 15 5.383774 KEEP 0 2 60 39 1319 CC 1 0.999997 0 - 6 60 171 0 0 10.17683 92 60 3127 223 ENST00000360786.3 0.061224 0.999997 ZMPSTE24 10269 __UNKNOWN__ __UNKNOWN__ 1 40725049 40725049 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:40725049A>G ENST00000372759.3 + 1 288 ZMPSTE24_ENST00000479131.1_3'UTR NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 NA NA CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235) endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) aggctggagtacagtggcgtt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y13834 CCDS449.1 1p34 2014-09-17 2012-12-10 ENSG00000084073 ENSG00000084073 10269 3.4.24.84 12877 protein-coding gene gene with protein product Hutchinson-Gilford progeria syndrome, CAAX prenyl protease 1 homolog 606480 zinc metalloproteinase (STE24 homolog, yeast), zinc metallopeptidase (STE24 homolog, yeast), zinc metallopeptidase STE24 homolog (S. cerevisiae) NA 10373325, 9700155, 16671095 Standard NM_005857 NA Approved FACE-1, Ste24p, STE24, HGPS, PRO1 uc001cfg.4 O75844 OTTHUMG00000005762 ENST00000372759.3:c.123+983A>G chr1.hg19:g.40725049A>G NA B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2 hg19 CCDS449.1 0.02 1.704695 AGTxCAG COVERED NOVEL ZMPSTE24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000015766.1 8 4.119975 KEEP 0 1 35 26 753 AA 0.999988 0.99898 0 + 5 60 174 0 0 11.903628 67 60 1866 126 ENST00000372759.3 0.069444 0.998993 ZMPSTE24 10269 __UNKNOWN__ __UNKNOWN__ 1 40725233 40725233 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:40725233A>T ENST00000372759.3 + 1 288 ZMPSTE24_ENST00000479131.1_Intron NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 NA NA CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235) endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) agctaattttagtatttttag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y13834 CCDS449.1 1p34 2014-09-17 2012-12-10 ENSG00000084073 ENSG00000084073 10269 3.4.24.84 12877 protein-coding gene gene with protein product Hutchinson-Gilford progeria syndrome, CAAX prenyl protease 1 homolog 606480 zinc metalloproteinase (STE24 homolog, yeast), zinc metallopeptidase (STE24 homolog, yeast), zinc metallopeptidase STE24 homolog (S. cerevisiae) NA 10373325, 9700155, 16671095 Standard NM_005857 NA Approved FACE-1, Ste24p, STE24, HGPS, PRO1 uc001cfg.4 O75844 OTTHUMG00000005762 ENST00000372759.3:c.123+1167A>T chr1.hg19:g.40725233A>T NA B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2 hg19 CCDS449.1 0.02 -0.263013 TTTxGTA COVERED NOVEL ZMPSTE24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000015766.1 1 5.115319 KEEP 0 0 0 17 522 AA 0.999366 0.693229 0 + 4 60 106 1 2 7.897531 19 60 535 49 ENST00000372759.3 0.173913 0.693668 ZFP69 339559 __UNKNOWN__ __UNKNOWN__ 1 40952875 40952875 __UNKNOWN__ Intron SNP A A G rs572949560 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:40952875A>G ENST00000372706.1 + 4 1225 ZFP69_ENST00000372705.3_Intron Q49AA0 ZFP69_HUMAN ZFP69 zinc finger protein NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA gattacaggcatgagccactg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK122618 CCDS30686.1 1p34.2 2013-01-09 2012-11-27 2012-11-27 ENSG00000187815 ENSG00000187815 339559 Zinc fingers, C2H2-type, -, -, - 24708 protein-coding gene gene with protein product ZFP69 zinc finger protein A zinc finger protein 642 ZNF642 NA Standard NM_198494 XM_005270808 NA Approved ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A uc001cfo.3 Q49AA0 OTTHUMG00000007303 ENST00000372706.1:c.220-1885A>G chr1.hg19:g.40952875A>G NA Q5SWM5|Q6ZWK8 hg19 CCDS30686.1 0.02 -0.24558 GGCxTGA COVERED NOVEL ZFP69-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019082.1 5 2.407048 KEEP 0 0 0 8 244 AA 0.99257 0.636582 0 + 3 60 99 0 0 7.242688 24 60 712 56 ENST00000372706.1 0.111111 0.641347 RP11-656D10.3 0 __UNKNOWN__ __UNKNOWN__ 1 40973540 40973540 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:40973540G>A ENST00000450713.1 - 0 73 NA NA NA ggatggtctcgatctcttaac 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000450713.1: chr1.hg19:g.40973540G>A NA hg19 0.02 -0.175421 CTCxATC COVERED NOVEL RP11-656D10.3-001 KNOWN basic antisense NA antisense OTTHUMT00000019085.1 5 2.407609 KEEP 1 0 0 8 273 GG 0.99257 0.384528 0 - 3 60 94 0 0 7.310276 15 60 468 37 ENST00000450713.1 0.166667 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 41037681 41037681 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:41037681A>G NA NA ZNF684 (23840 upstream) : RIMS3 (48669 downstream) NA NA NA gggaggctgaagcaggagaat 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.41037681A>G NA hg19 0.02 -0.385945 TGAxGCA COVERED NOVEL 0 5 3.310158 KEEP 0 0 0 11 352 AA 0.993072 0.91181 0 3 60 107 0 0 7.407635 40 60 1229 91 0.069767 0.918171 RIMS3 9783 __UNKNOWN__ __UNKNOWN__ 1 41092014 41092014 __UNKNOWN__ 3'UTR SNP G G A rs563999071 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:41092014G>A ENST00000372684.3 - 0 1571 RIMS3_ENST00000372683.1_3'UTR NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 NA NA calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391) cell junction (GO:0030054)|presynaptic active zone (GO:0048786) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) acacacacacgcacgcacaca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC003103 CCDS30687.1 1p34.2 2013-09-19 ENSG00000117016 ENSG00000117016 9783 21292 protein-coding gene gene with protein product 611600 NA 12620390, 10748113 Standard NM_014747 NM_014747 NA Approved RIM3, NIM3 uc001cfu.1 Q9UJD0 OTTHUMG00000007453 ENST00000372684.3:c.*175C>T chr1.hg19:g.41092014G>A NA D3DPV8|Q92511|X5D7U7 hg19 CCDS30687.1 0.02 1.520855 CACxCAC COVERED NOVEL RIMS3-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019585.1 9 3.043216 KEEP 0 1 34 22 733 GG 0.999892 0.993595 0 - 4 60 124 1 0 8.058581 52 60 1616 103 ENST00000372684.3 0.071429 0.993703 NFYC 4802 __UNKNOWN__ __UNKNOWN__ 1 41172605 41172605 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:41172605A>G ENST00000456393.2 + 1 125 NFYC_ENST00000447388.3_Intron|NFYC_ENST00000425457.2_Intron|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000372654.1_Intron|NFYC_ENST00000372653.1_Intron Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma NA NA cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) actttgggagaccgaggtggg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U78774 CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1 1p32 2008-11-11 ENSG00000066136 ENSG00000066136 4802 7806 protein-coding gene gene with protein product 605344 NA 8921405, 9249075 Standard NM_014223 NM_014223 NA Approved CBF-C, NF-YC uc009vwd.3 Q13952 OTTHUMG00000007729 ENST00000456393.2:c.-9+15066A>G chr1.hg19:g.41172605A>G NA B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7 hg19 CCDS44121.1 0.02 -0.280568 GAGxCCG COVERED NOVEL NFYC-017 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386296.1 7 2.407062 KEEP 0 0 0 8 242 AA 0.99257 0.734176 0 + 3 54 102 0 0 7.444274 26 60 749 63 ENST00000456393.2 0.103448 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 41403740 41403740 __UNKNOWN__ IGR SNP C C T rs113348316 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:41403740C>T NA NA RP5-1066H13.4 (61398 upstream) : CTPS1 (41266 downstream) NA NA NA ggattacaggcgtgagccacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.41403740C>T NA hg19 0.02 1.245557 AGGxGTG COVERED NOVEL 0 19 8.916817 KEEP 0 1 29 40 1347 CC 1 0.999622 0 5 60 145 0 0 8.891361 71 60 2308 167 0.065789 0.999622 SCMH1 22955 __UNKNOWN__ __UNKNOWN__ 1 41583004 41583004 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:41583004A>G ENST00000326197.7 - 6 682 SCMH1_ENST00000361191.5_Intron|SCMH1_ENST00000372595.1_Intron|SCMH1_ENST00000402904.2_Intron|SCMH1_ENST00000337495.5_Intron|SCMH1_ENST00000372597.1_Intron|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000361705.3_Intron|SCMH1_ENST00000372596.1_Intron|SCMH1_ENST00000397171.2_Intron|SCMH1_ENST00000397174.2_Intron sex comb on midleg homolog 1 (Drosophila) NA NA breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) accagaagacaagagtgcgag 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF149045 CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1 1p34 2013-01-10 ENSG00000010803 ENSG00000010803 22955 Sterile alpha motif (SAM) domain containing 19003 protein-coding gene gene with protein product NA 10524249 Standard NM_012236 NA Approved Scml3 uc001cgs.3 Q96GD3 OTTHUMG00000005720 ENST00000326197.7:c.383-322T>C chr1.hg19:g.41583004A>G NA hg19 CCDS30688.1 0.02 -0.412214 GACxAGA COVERED NOVEL SCMH1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000015656.1 5 3.246268 KEEP 10 1 38 24 768 AA 0.999869 0.941618 0 - 3 49 98 0 0 6.447934 42 47 1245 108 ENST00000326197.7 0.066667 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 41818972 41818972 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:41818972A>G NA NA RP11-399E6.1 (68439 upstream) : FOXO6 (8621 downstream) NA NA NA tagtagagacagggattcacc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.41818972A>G NA hg19 0.02 -0.263099 GACxGGG COVERED NOVEL 0 6 3.60972 KEEP 0 0 0 12 367 AA 0.993634 0.689252 0 3 60 105 0 0 7.743961 26 60 762 55 0.103448 0.693668 FOXJ3 22887 __UNKNOWN__ __UNKNOWN__ 1 42644195 42644195 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:42644195T>C ENST00000372572.1 - 0 3366 FOXJ3_ENST00000545068.1_3'UTR|FOXJ3_ENST00000361776.1_3'UTR|FOXJ3_ENST00000372571.1_3'UTR|FOXJ3_ENST00000361346.1_3'UTR|FOXJ3_ENST00000372573.1_3'UTR NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) gtggctcatgtctgtaatccc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB028964 CCDS30689.1, CCDS55594.1 1p34.2 2008-04-10 ENSG00000198815 ENSG00000198815 22887 Forkhead boxes 29178 protein-coding gene gene with protein product NA Standard NM_014947 NM_014947 NA Approved KIAA1041 uc001chf.3 Q9UPW0 OTTHUMG00000007026 ENST00000372572.1:c.*1186A>G chr1.hg19:g.42644195T>C NA A7MBL7|A7MD18|D3DPW2|Q9NSS7 hg19 CCDS30689.1 0.02 -0.280669 ATGxCTG COVERED NOVEL FOXJ3-002 NOVEL alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000018310.1 7 3.610876 KEEP 0 0 0 12 380 TT 0.993634 0.734962 0 - 3 60 100 0 0 7.342495 24 60 719 58 ENST00000372572.1 0.111111 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 43840866 43840866 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:43840866A>G NA NA ELOVL1 (7177 upstream) : MED8 (8721 downstream) NA NA NA gcccgcctcgacctcccaaag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.43840866A>G NA hg19 0.02 -0.192948 TCGxCCT COVERED NOVEL 0 2 2.404428 KEEP 0 0 0 8 235 AA 0.99257 0.454356 0 3 60 105 0 0 8.126853 19 60 558 38 0.136364 0.457757 SZT2 23334 __UNKNOWN__ __UNKNOWN__ 1 43868858 43868858 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:43868858C>T ENST00000562955.1 + 2 38 c.38C>T c.(37-39)gCt>gTt p.A13V SZT2_ENST00000372450.4_Missense_Mutation_p.A13V|SZT2_ENST00000310739.4_Missense_Mutation_p.A13V NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 13 NA central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668) extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GTGGAAGAAGCTGGGCAGGTG 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 119 116 117 NA NA NA 1 NA NA 43868858 2203 4300 6503 SO:0001583 missense AB007936 CCDS30694.1, CCDS30694.2 1p34.2 2012-11-19 2011-06-10 2011-06-10 ENSG00000198198 ENSG00000198198 23334 29040 protein-coding gene gene with protein product seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse) 615463 chromosome 1 open reading frame 84, KIAA0467 C1orf84, KIAA0467 NA 9455484 Standard NM_015284 NM_015284 NA Approved FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A uc001cjk.3 Q5T011 OTTHUMG00000007423 ENST00000562955.1:c.38C>T chr1.hg19:g.43868858C>T ENSP00000457168:p.Ala13Val NA A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8 hg19 CCDS30694.2 0.02 1.636923 AAGxTGG COVERED . . . . . . . . . . C 36 5.696486 0.96802 . . ENSG00000223526 ENST00000372450;ENST00000310739;ENST00000357658 . . . 5.72 5.72 0.89469 . . . . . T 0.77955 0.4208 L 0.59436 1.845 0.80722 D 1 D;D 0.71674 0.996;0.998 D;D 0.80764 0.99;0.994 T 0.78748 -0.2083 8 0.87932 D 0 . 19.8786 0.96886 0.0:1.0:0.0:0.0 . 13;13 Q5T011-4;Q5T011-7 .;. V 13 . ENSP00000312234:A13V A + 2 0 AL139289.1 43641445 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 6.999000 0.76283 2.693000 0.91896 0.655000 0.94253 GCT NOVEL SZT2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019517.3 1 10.233584 KEEP 0 0 0 34 1248 CC 0.999998 0.992092 0 + 20 60 611 0 0 53.709617 42 60 1456 139 ENST00000562955.1 0.322581 0.992094 SZT2 23334 __UNKNOWN__ __UNKNOWN__ 1 43875247 43875247 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:43875247A>G ENST00000562955.1 + 4 498 NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) NA NA central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668) extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 taaagttgcaagatacaaaat 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007936 CCDS30694.1, CCDS30694.2 1p34.2 2012-11-19 2011-06-10 2011-06-10 ENSG00000198198 ENSG00000198198 23334 29040 protein-coding gene gene with protein product seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse) 615463 chromosome 1 open reading frame 84, KIAA0467 C1orf84, KIAA0467 NA 9455484 Standard NM_015284 NM_015284 NA Approved FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A uc001cjk.3 Q5T011 OTTHUMG00000007423 ENST00000562955.1:c.498+5026A>G chr1.hg19:g.43875247A>G NA A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8 hg19 CCDS30694.2 0.02 1.754743 GCAxGAT COVERED NOVEL SZT2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019517.3 6 17.825067 KEEP 0 2 68 83 2690 AA 1 0.999919 0 + 4 60 138 1 0 8.567267 88 60 2666 229 ENST00000562955.1 0.043478 0.999919 SZT2 23334 __UNKNOWN__ __UNKNOWN__ 1 43875690 43875690 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:43875690A>G ENST00000562955.1 + 5 498 NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) NA NA central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668) extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 tatactacaaagctatagtaa 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007936 CCDS30694.1, CCDS30694.2 1p34.2 2012-11-19 2011-06-10 2011-06-10 ENSG00000198198 ENSG00000198198 23334 29040 protein-coding gene gene with protein product seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse) 615463 chromosome 1 open reading frame 84, KIAA0467 C1orf84, KIAA0467 NA 9455484 Standard NM_015284 NM_015284 NA Approved FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A uc001cjk.3 Q5T011 OTTHUMG00000007423 ENST00000562955.1:c.499-5063A>G chr1.hg19:g.43875690A>G NA A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8 hg19 CCDS30694.2 0.02 1.526296 CAAxGCT COVERED NOVEL SZT2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019517.3 5 8.425699 KEEP 2 0 0 28 899 AA 0.999997 0.970818 0 + 4 60 125 0 0 8.359658 46 60 1349 99 ENST00000562955.1 0.08 0.97082 KLF17 128209 __UNKNOWN__ __UNKNOWN__ 1 44588943 44588943 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:44588943T>A ENST00000372299.3 + 1 139 KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 NA NA gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) catgttgccctggctggtctc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC049844 CCDS508.1 1p34.1 2011-11-15 2006-02-17 2006-02-17 ENSG00000171872 ENSG00000171872 128209 Zinc fingers, C2H2-type, Kruppel-like transcription factors 18830 protein-coding gene gene with protein product 609602 zinc finger protein 393 ZNF393 NA 16460907 Standard NM_173484 NM_173484 NA Approved Zfp393, FLJ40160 uc001clp.3 Q5JT82 OTTHUMG00000009664 ENST00000372299.3:c.81+4283T>A chr1.hg19:g.44588943T>A NA Q86VQ7|Q8N805 hg19 CCDS508.1 0.02 -0.245588 CCCxGGC COVERED NOVEL KLF17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026646.1 4 2.407458 KEEP 0 0 0 8 255 TT 0.99257 0.663556 0 + 3 60 92 0 0 6.649599 22 60 663 56 ENST00000372299.3 0.12 0.668523 KLF17 128209 __UNKNOWN__ __UNKNOWN__ 1 44596492 44596492 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:44596492G>A ENST00000372299.3 + 3 1228 NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 NA NA gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) tttttgagacggagtctcact 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC049844 CCDS508.1 1p34.1 2011-11-15 2006-02-17 2006-02-17 ENSG00000171872 ENSG00000171872 128209 Zinc fingers, C2H2-type, Kruppel-like transcription factors 18830 protein-coding gene gene with protein product 609602 zinc finger protein 393 ZNF393 NA 16460907 Standard NM_173484 NM_173484 NA Approved Zfp393, FLJ40160 uc001clp.3 Q5JT82 OTTHUMG00000009664 ENST00000372299.3:c.1167+64G>A chr1.hg19:g.44596492G>A NA Q86VQ7|Q8N805 hg19 CCDS508.1 0.02 2.70788 GACxGAG COVERED NOVEL KLF17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026646.1 21 5.990901 KEEP 0 5 154 74 2487 GG 1 1 0 + 6 60 178 2 1 10.542139 105 60 3457 286 ENST00000372299.3 0.054054 1 RNF220 55182 __UNKNOWN__ __UNKNOWN__ 1 44993336 44993336 __UNKNOWN__ Intron SNP A A G rs75867308 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:44993336A>G ENST00000355387.2 + 3 1075 RNF220_ENST00000372247.2_Intron|RNF220_ENST00000361799.2_Intron|RNF220_ENST00000443020.2_Intron Q5VTB9 RN220_HUMAN ring finger protein 220 NA NA protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 ggtggctcacacctgtaatcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056424 CCDS510.1 1p34.1 2008-06-13 2008-06-13 2008-06-13 ENSG00000187147 ENSG00000187147 55182 RING-type (C3HC4) zinc fingers 25552 protein-coding gene gene with protein product chromosome 1 open reading frame 164 C1orf164 NA 11042152 Standard NM_018150 NM_018150 NA Approved FLJ10597 uc001clv.1 Q5VTB9 OTTHUMG00000007697 ENST00000355387.2:c.626-86501A>G chr1.hg19:g.44993336A>G NA B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6 hg19 CCDS510.1 0.02 -0.236628 CACxCCT COVERED NOVEL RNF220-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000020683.4 7 2.708176 KEEP 2 0 0 9 283 AA 0.99254 0.607839 0 + 3 60 99 0 0 7.40695 21 60 589 52 ENST00000355387.2 0.125 0.612407 C1orf228 339541 __UNKNOWN__ __UNKNOWN__ 1 45169645 45169645 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:45169645A>G ENST00000458657.2 + 7 946 C1orf228_ENST00000535358.1_Intron|C1orf228_ENST00000444751.1_Intron Q6PIY5 CA228_HUMAN chromosome 1 open reading frame 228 NA NA central_nervous_system(1) 1 tgatctgcccacctcggcctc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL122004, AY254217, BC026115 CCDS53311.1 1p34.1 2011-02-22 2009-03-17 2009-03-17 ENSG00000198520 ENSG00000198520 339541 34345 protein-coding gene gene with protein product non-protein coding RNA 82 NCRNA00082 NA 12477932 Standard NM_001145636 NM_001145636 NA Approved MGC33556, p40 uc001cmf.2 Q6PIY5 OTTHUMG00000007834 ENST00000458657.2:c.640-116A>G chr1.hg19:g.45169645A>G NA A1KXE5 hg19 CCDS53311.1 0.02 -0.420948 CCCxCCT COVERED NOVEL C1orf228-013 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023125.2 5 4.212268 KEEP 1 0 0 14 431 AA 0.995343 0.943985 0 + 4 60 121 0 0 8.27648 38 60 1119 77 ENST00000458657.2 0.095238 0.948402 HECTD3 79654 __UNKNOWN__ __UNKNOWN__ 1 45474377 45474377 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:45474377G>A ENST00000372172.4 - 8 1144 NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 NA NA proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) CCATCATCTGGGGGAAGGGGT 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 118 110 113 NA NA NA 1 NA NA 45474377 2057 4207 6264 SO:0001627 intron_variant BC019105 CCDS41318.1 1p34.1 2012-02-23 2012-02-23 ENSG00000126107 ENSG00000126107 79654 26117 protein-coding gene gene with protein product HECT domain containing 3 NA 12477932 Standard NM_024602 NM_024602 NA Approved FLJ21156 uc009vxk.3 Q5T447 OTTHUMG00000008587 ENST00000372172.4:c.1073-4C>T chr1.hg19:g.45474377G>A NA B3KPV7|B3KRH4|Q5T448|Q9H783 hg19 CCDS41318.1 0.02 -0.271878 CTGxGGG COVERED NOVEL HECTD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023734.1 1 6.019001 KEEP 0 0 0 20 688 GG 0.999863 0.717217 0 - 5 60 149 0 0 11.340273 26 60 859 68 ENST00000372172.4 0.16129 0.717315 MUTYH 4595 __UNKNOWN__ __UNKNOWN__ 1 45796746 45796746 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:45796746T>G ENST00000531105.1 - 3 309 MUTYH_ENST00000372104.1_Intron|MUTYH_ENST00000528013.2_Intron|MUTYH_ENST00000354383.6_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000456914.2_Intron|MUTYH_ENST00000372098.3_Intron|MUTYH_ENST00000372115.3_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000448481.1_Intron|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372100.5_Intron|MUTYH_ENST00000372110.3_Intron|MUTYH_ENST00000355498.2_Intron|MUTYH_ENST00000450313.1_Intron Q9UIF7 MUTYH_HUMAN mutY homolog NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298) mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) aacagagcgattctccgtctc 0.443 NA Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Adenomatous polyposis coli 1 1p34.3-1p32.1 4595 mutY homolog (E. coli) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database MAP, MYH-associated polyposis U63329 CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1 1p34.1 2014-09-17 2013-09-12 ENSG00000132781 ENSG00000132781 4595 7527 protein-coding gene gene with protein product 604933 mutY (E. coli) homolog, mutY homolog (E. coli) NA 7823963, 10684930 Standard NM_012222 NM_012222 NA Approved MYH uc009vxp.3 Q9UIF7 OTTHUMG00000007682 ENST00000531105.1:c.116-1637A>C chr1.hg19:g.45796746T>G NA D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6 hg19 0.02 -0.30686 CGAxTCT COVERED NOVEL MUTYH-037 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000386825.1 1 3.609206 KEEP 0 0 0 12 346 TT 0.993634 0.830395 0 - 3 60 110 0 0 8.109246 29 60 785 56 ENST00000531105.1 0.09375 0.835716 MUTYH 4595 __UNKNOWN__ __UNKNOWN__ 1 45796747 45796747 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:45796747T>A ENST00000531105.1 - 3 309 MUTYH_ENST00000372104.1_Intron|MUTYH_ENST00000528013.2_Intron|MUTYH_ENST00000354383.6_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000456914.2_Intron|MUTYH_ENST00000372098.3_Intron|MUTYH_ENST00000372115.3_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000448481.1_Intron|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372100.5_Intron|MUTYH_ENST00000372110.3_Intron|MUTYH_ENST00000355498.2_Intron|MUTYH_ENST00000450313.1_Intron Q9UIF7 MUTYH_HUMAN mutY homolog NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298) mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) acagagcgattctccgtctca 0.448 NA Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Adenomatous polyposis coli 1 1p34.3-1p32.1 4595 mutY homolog (E. coli) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database MAP, MYH-associated polyposis U63329 CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1 1p34.1 2014-09-17 2013-09-12 ENSG00000132781 ENSG00000132781 4595 7527 protein-coding gene gene with protein product 604933 mutY (E. coli) homolog, mutY homolog (E. coli) NA 7823963, 10684930 Standard NM_012222 NM_012222 NA Approved MYH uc009vxp.3 Q9UIF7 OTTHUMG00000007682 ENST00000531105.1:c.116-1638A>T chr1.hg19:g.45796747T>A NA D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6 hg19 0.02 -0.324337 GATxCTC COVERED NOVEL MUTYH-037 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000386825.1 1 3.609126 KEEP 0 0 0 12 347 TT 0.993634 0.830395 0 - 3 60 98 0 0 6.910503 29 60 751 57 ENST00000531105.1 0.09375 0.835716 MMACHC 25974 __UNKNOWN__ __UNKNOWN__ 1 45975510 45975510 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:45975510C>T ENST00000477188.1 + 2 76 MMACHC_ENST00000401061.4_3'UTR Q9Y4U1 MMAC_HUMAN methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria NA NA cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrion (GO:0005739) cobalamin binding (GO:0031419) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(166;0.155) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) tcccagcactctgggaggccg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41324.1 1p34.1 2011-05-12 ENSG00000132763 ENSG00000132763 25974 24525 protein-coding gene gene with protein product 609831 NA 16311595 Standard NM_015506 NM_015506 NA Approved DKFZP564I122, cblC uc009vxv.3 Q9Y4U1 OTTHUMG00000007742 ENST00000477188.1:c.77-137C>T chr1.hg19:g.45975510C>T NA Q5T157|Q9BRQ7 hg19 0.02 2.725389 ACTxTGG COVERED NOVEL MMACHC-004 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000020867.2 22 11.118581 KEEP 0 3 88 68 2386 CC 1 1 0 + 7 60 205 0 0 12.347086 110 60 3737 253 ENST00000477188.1 0.059829 1 NASP 4678 __UNKNOWN__ __UNKNOWN__ 1 46054350 46054350 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:46054350A>G ENST00000350030.3 + 2 146 NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Intron|NASP_ENST00000402363.3_Intron|NASP_ENST00000351223.3_Intron NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) NA NA blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234) Hsp90 protein binding (GO:0051879) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) ggtggctcacacctgtaatcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M97856 CCDS524.1, CCDS525.1, CCDS55597.1 1p34.1 2013-01-10 ENSG00000132780 ENSG00000132780 4678 Tetratricopeptide (TTC) repeat domain containing 7644 protein-coding gene gene with protein product 603185 NA 1426632 Standard NM_002482 NM_002482 NA Approved FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999 uc001coi.2 P49321 OTTHUMG00000007826 ENST00000350030.3:c.60-2545A>G chr1.hg19:g.46054350A>G NA A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2 hg19 CCDS524.1 0.02 3.517019 CACxCCT COVERED NOVEL NASP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000021533.2 17 9.75194 KEEP 2 1 33 44 1291 AA 1 0.999999 0 + 6 60 190 0 0 11.691166 107 60 3060 232 ENST00000350030.3 0.053097 0.999999 MAST2 23139 __UNKNOWN__ __UNKNOWN__ 1 46466572 46466572 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:46466572A>G ENST00000361297.2 + 7 951 MAST2_ENST00000372009.2_Intron NM_015112.2 NP_055927.2 microtubule associated serine/threonine kinase 2 NA NA breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CAAGATTCAAAAAGATCACTC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB047005 CCDS41326.1 1p34.1 2008-02-05 ENSG00000086015 ENSG00000086015 23139 19035 protein-coding gene gene with protein product 612257 NA Standard NM_015112 NM_015112 NA Approved MAST205, KIAA0807 uc001cov.3 Q6P0Q8 OTTHUMG00000008007 ENST00000361297.2:c.669-1905A>G chr1.hg19:g.46466572A>G NA hg19 CCDS41326.1 0.02 -0.324502 CAAxAAG COVERED NOVEL MAST2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021977.1 4 6.018344 KEEP 0 0 0 20 643 AA 0.999863 0.835601 0 + 4 60 144 0 0 10.805801 33 60 976 74 ENST00000361297.2 0.108108 0.835716 TSPAN1 10103 __UNKNOWN__ __UNKNOWN__ 1 46641814 46641814 __UNKNOWN__ Intron SNP C C T rs569689576 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:46641814C>T ENST00000372003.1 + 1 323 PIK3R3_ENST00000540385.1_Intron|RP11-322N21.2_ENST00000506599.1_RNA|TSPAN1_ENST00000498443.1_Intron NM_005727.3 NP_005718.2 O60635 TSN1_HUMAN tetraspanin 1 NA NA cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982) thiamine uptake transmembrane transporter activity (GO:0015403) kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) cccaaagtgccgggattacag 0.532 NA c||| 7 0.00139776 0 0 5008 , , NA 18178 0 NA 0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC013404 CCDS530.1 1p33 2013-02-14 ENSG00000117472 ENSG00000117472 10103 Tetraspanins 20657 protein-coding gene gene with protein product 613170 NA 9714763, 10719184 Standard NM_005727 NM_005727 NA Approved TSPAN-1, NET-1 uc001cpd.3 O60635 OTTHUMG00000007602 ENST00000372003.1:c.-142+733C>T chr1.hg19:g.46641814C>T NA D3DQ14|O60745|Q5VST0 hg19 CCDS530.1 0.02 1.166688 TGCxGGG COVERED NOVEL TSPAN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000020135.1 14 6.920502 KEEP 1 0 0 23 777 CC 0.999892 0.999799 0 + 7 60 193 0 0 12.050529 81 60 2638 147 ENST00000372003.1 0.079545 0.999907 MKNK1 8569 __UNKNOWN__ __UNKNOWN__ 1 47060630 47060630 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:47060630A>G ENST00000371946.4 - 2 30 MKNK1_ENST00000428112.2_Intron|MKNK1_ENST00000341183.5_Intron|MKNK1_ENST00000525888.1_Intron|MKNK1_ENST00000545730.1_Intron|MKNK1_ENST00000371945.4_Intron NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 NA NA extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651) cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) ctgcactccaacctgggtgac 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB000409 CCDS538.1, CCDS30705.1, CCDS44134.1 1p33 2008-02-05 ENSG00000079277 ENSG00000079277 8569 7110 protein-coding gene gene with protein product 606724 NA 9155018 Standard NM_003684 NM_003684 NA Approved MNK1 uc001cqb.4 Q9BUB5 OTTHUMG00000007983 ENST00000371946.4:c.134-678T>C chr1.hg19:g.47060630A>G NA D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6 hg19 CCDS538.1 0.02 5.926954 CCAxCCT COVERED NOVEL MKNK1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000021897.2 21 17.087442 KEEP 0 1 35 69 2207 AA 1 1 0 - 10 60 346 2 0 23.453765 139 60 4095 315 ENST00000371946.4 0.067114 1 STIL 6491 __UNKNOWN__ __UNKNOWN__ 1 47716230 47716230 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:47716230G>A ENST00000371877.3 - 0 4592 STIL_ENST00000360380.3_3'UTR|STIL_ENST00000337817.5_3'UTR Q15468 STIL_HUMAN SCL/TAL1 interrupting locus NA NA cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cytoplasm (GO:0005737) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) agtggctcacgcctgtaatcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M74558 CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1 1p32 2010-02-09 2005-11-29 2005-11-29 ENSG00000123473 ENSG00000123473 6491 10879 protein-coding gene gene with protein product 181590 TAL1 (SCL) interrupting locus SIL NA 2209547 Standard NM_003035 NM_003035 NA Approved MCPH7 uc001crd.1 Q15468 OTTHUMG00000007851 ENST00000371877.3:c.*578C>T chr1.hg19:g.47716230G>A NA Q5T0C5|Q68CN9 hg19 CCDS41329.1 0.02 -0.306996 CACxCCT COVERED NOVEL STIL-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000021652.2 4 6.922473 KEEP 0 0 0 23 824 GG 0.999892 0.818376 0 - 4 60 107 0 0 7.379945 28 60 935 73 ENST00000371877.3 0.125 0.818465 STIL 6491 __UNKNOWN__ __UNKNOWN__ 1 47716250 47716250 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:47716250A>G ENST00000371877.3 - 0 4572 STIL_ENST00000360380.3_3'UTR|STIL_ENST00000337817.5_3'UTR Q15468 STIL_HUMAN SCL/TAL1 interrupting locus NA NA cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cytoplasm (GO:0005737) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ccagcactttaggaggccgag 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M74558 CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1 1p32 2010-02-09 2005-11-29 2005-11-29 ENSG00000123473 ENSG00000123473 6491 10879 protein-coding gene gene with protein product 181590 TAL1 (SCL) interrupting locus SIL NA 2209547 Standard NM_003035 NM_003035 NA Approved MCPH7 uc001crd.1 Q15468 OTTHUMG00000007851 ENST00000371877.3:c.*558T>C chr1.hg19:g.47716250A>G NA Q5T0C5|Q68CN9 hg19 CCDS41329.1 0.02 -0.192959 TTTxGGA COVERED NOVEL STIL-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000021652.2 2 5.115801 KEEP 0 0 0 17 542 AA 0.999366 0.457467 0 - 3 60 100 0 0 7.833341 16 60 474 49 ENST00000371877.3 0.157895 0.457757 SPATA6 54558 __UNKNOWN__ __UNKNOWN__ 1 48812548 48812548 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:48812548T>G ENST00000371847.3 - 11 1359 SPATA6_ENST00000371843.3_Intron|SPATA6_ENST00000396199.3_Intron NM_019073.2 NP_061946.1 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) extracellular region (GO:0005576) breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 aacatatccttaaaatggcca 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000869 CCDS551.1, CCDS65535.1, CCDS72787.1 1p32.3 2012-03-15 ENSG00000132122 ENSG00000132122 54558 18309 protein-coding gene gene with protein product spermatogenesis-related factor-1 613947 NA Standard NM_019073 XM_005270948 NA Approved SRF1, FLJ10007, SRF-1 uc001crr.2 Q9NWH7 OTTHUMG00000007794 ENST00000371847.3:c.1194+8793A>C chr1.hg19:g.48812548T>G NA Q5T3N7|Q8WUE6 hg19 CCDS551.1 0.02 -0.157849 CCTxAAA COVERED NOVEL SPATA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021347.1 3 2.707916 KEEP 0 0 0 9 273 TT 0.99254 0.320398 0 - 3 60 96 0 0 7.510615 15 60 424 36 ENST00000371847.3 0.166667 0.322807 AGBL4 84871 __UNKNOWN__ __UNKNOWN__ 1 50331580 50331580 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:50331580C>A ENST00000371839.1 - 2 151 AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371836.1_Intron NM_032785.3 NP_116174.3 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 NA NA C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610) cytosol (GO:0005829) metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) tttagagaggcacataaatga 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027348 CCDS44137.1 1p33 2014-06-23 ENSG00000186094 ENSG00000186094 84871 25892 protein-coding gene gene with protein product cytosolic carboxypeptidase 6 NA 21074048 Standard NM_032785 NM_032785 NA Approved FLJ14442, CCP6 uc001cru.2 Q5VU57 OTTHUMG00000007793 ENST00000371839.1:c.35-14390G>T chr1.hg19:g.50331580C>A NA B3KT26|B4DG37 hg19 CCDS44137.1 0.02 1.461457 AGGxACA COVERED NOVEL AGBL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021346.4 9 8.728057 KEEP 0 0 0 29 1034 CC 0.999997 0.999485 0 - 5 60 147 0 1 8.947032 76 60 2583 160 ENST00000371839.1 0.061728 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 50763031 50763031 __UNKNOWN__ IGR SNP A A G rs3012090 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:50763031A>G NA NA RP11-567C20.3 (74232 upstream) : DMRTA2 (120190 downstream) NA NA NA gccgggcacgatggctcatgc 0.512 NA G||| 4913 0.98103 0.9297 0.9971 5008 , , NA 12338 1 NA 1 False NA ,,, NA NA NA 2504 1 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.50763031A>G NA hg19 0.02 3.991753 ACGxTGG COVERED NOVEL 0 83 2.342829 KEEP 26 1 35 20 650 AA 0.99986 0.999828 0 12 60 380 0 0 43.720737 0 0 0 199 1 0.999968 TTC39A 22996 __UNKNOWN__ __UNKNOWN__ 1 51763159 51763159 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:51763159A>G ENST00000262676.5 - 0 6017 TTC39A_ENST00000534098.1_Intron|TTC39A_ENST00000371747.3_Intron|TTC39A_ENST00000262675.7_Intron|TTC39A_ENST00000413473.2_Intron|TTC39A_ENST00000371750.5_Intron|TTC39A_ENST00000530004.1_Intron|TTC39A_ENST00000451380.1_Intron|TTC39A_ENST00000447632.2_Intron Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A NA NA p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 ccaaagtgctaggattacagg 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Whole gene deletion(2) thyroid(1)|central_nervous_system(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007921 CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1 1p32.3 2013-01-11 2008-06-23 2008-06-23 ENSG00000085831 ENSG00000085831 22996 Tetratricopeptide (TTC) repeat domain containing 18657 protein-coding gene gene with protein product chromosome 1 open reading frame 34 C1orf34 NA 9455484, 9461476 Standard XM_005270643 NA Approved KIAA0452, DEME-6 uc010onf.2 Q5SRH9 OTTHUMG00000008193 ENST00000262676.5:c.*4594T>C chr1.hg19:g.51763159A>G NA B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24 hg19 0.02 5.815387 GCTxGGA COVERED NOVEL TTC39A-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000022432.2 21 9.438068 KEEP 0 6 217 107 3279 AA 1 1 0 - 8 60 273 0 0 17.610051 140 60 4008 338 ENST00000262676.5 0.054054 1 EPS15 2060 __UNKNOWN__ __UNKNOWN__ 1 51905987 51905987 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:51905987A>G ENST00000371733.3 - 12 1137 EPS15_ENST00000371730.2_Intron NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 NA NA cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050) AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593) p.0?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 gtgtgtgtgtatgtgAGTAGG 0.373 NA T MLL ALL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1p32 2060 epidermal growth factor receptor pathway substrate 15 (AF1p) L 1 Whole gene deletion(1) central_nervous_system(1) 92 86 88 NA NA NA 1 NA NA 51905987 2202 4299 6501 SO:0001627 intron_variant BC054006 CCDS557.1 1p32 2013-01-10 ENSG00000085832 ENSG00000085832 2060 EF-hand domain containing 3419 protein-coding gene gene with protein product 600051 NA 8183552 Standard NM_001981 NM_001159969 NA Approved AF-1P, MLLT5 uc001csq.1 P42566 OTTHUMG00000008192 ENST00000371733.3:c.1040+31T>C chr1.hg19:g.51905987A>G NA B2R8J7|D3DPJ2|Q5SRH4 hg19 CCDS557.1 0.02 -0.358596 TGTxTGT COVERED NOVEL EPS15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022422.1 13 2.50544 KEEP 0 1 33 20 543 AA 0.999869 0.888759 0 - 4 60 108 0 0 7.165986 35 60 928 85 ENST00000371733.3 0.102564 0.888875 EPS15 2060 __UNKNOWN__ __UNKNOWN__ 1 51924159 51924159 __UNKNOWN__ Intron SNP G G A rs56167325 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:51924159G>A ENST00000371733.3 - 8 658 EPS15_ENST00000371730.2_Intron NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 NA NA cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050) AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593) p.0?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 ctgtaatcccggcactttggg 0.458 NA T MLL ALL A||| 129 0.0257588 0.0628 0.0187 5008 , , NA 13742 0 NA 0.0308 False NA ,,, NA NA NA 2504 0.002 NA NA NA Dom yes 1 1p32 2060 epidermal growth factor receptor pathway substrate 15 (AF1p) L 1 Whole gene deletion(1) central_nervous_system(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC054006 CCDS557.1 1p32 2013-01-10 ENSG00000085832 ENSG00000085832 2060 EF-hand domain containing 3419 protein-coding gene gene with protein product 600051 NA 8183552 Standard NM_001981 NM_001159969 NA Approved AF-1P, MLLT5 uc001csq.1 P42566 OTTHUMG00000008192 ENST00000371733.3:c.561+2603C>T chr1.hg19:g.51924159G>A NA B2R8J7|D3DPJ2|Q5SRH4 hg19 CCDS557.1 0.02 9.536986 CCCxGCA COVERED NOVEL EPS15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022422.1 45 14.999492 KEEP 0 8 251 138 4726 GG 1 1 0 - 29 60 888 1 0 61.63393 263 60 8591 673 ENST00000371733.3 0.099315 1 OSBPL9 114883 __UNKNOWN__ __UNKNOWN__ 1 52080195 52080195 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:52080195C>T ENST00000371714.1 + 3 263 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 NA NA lipid transport (GO:0006869) cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) lipid binding (GO:0008289) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 caggctggtcccaaactcctg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF392445 CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1 1p32.3 2013-01-10 ENSG00000117859 ENSG00000117859 114883 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16386 protein-coding gene gene with protein product 606737 NA Standard NM_148904 NA Approved uc001csu.3 Q96SU4 OTTHUMG00000008234 ENST00000371714.1:c.-238+104C>T chr1.hg19:g.52080195C>T NA B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2 hg19 CCDS55598.1 0.02 -0.131573 GTCxCAA COVERED NOVEL OSBPL9-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000022581.4 6 2.407954 KEEP 0 0 0 8 290 CC 0.99257 0.22747 0 + 4 60 121 0 0 10.523691 9 60 292 35 ENST00000371714.1 0.307692 0.229173 RAB3B 5865 __UNKNOWN__ __UNKNOWN__ 1 52383465 52383465 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:52383465T>A ENST00000371655.3 - 0 3006 NM_002867.3 NP_002858.2 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family NA NA antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 gcctcaagtgttcctcctgcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC005035 CCDS560.1 1p32-p31 2008-02-05 ENSG00000169213 ENSG00000169213 5865 RAB, member RAS oncogene 9778 protein-coding gene gene with protein product 179510 NA Standard NM_002867 NM_002867 NA Approved uc001cth.3 P20337 OTTHUMG00000008627 ENST00000371655.3:c.*2134A>T chr1.hg19:g.52383465T>A NA Q5VUL2|Q9BSI1 hg19 CCDS560.1 0.02 2.859902 GTGxTCC COVERED NOVEL RAB3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023816.1 29 8.839203 KEEP 1 1 30 40 1244 TT 1 1 0 - 6 60 177 0 0 10.396944 107 60 3136 241 ENST00000371655.3 0.053097 1 ZFYVE9 9372 __UNKNOWN__ __UNKNOWN__ 1 52716775 52716775 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:52716775G>A ENST00000371591.1 + 3 2309 ZFYVE9_ENST00000287727.3_Intron|ZFYVE9_ENST00000357206.2_Intron NM_004799.2|NM_007324.2 NP_004790.2|NP_015563.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 NA NA endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179) early endosome (GO:0005769)|early endosome membrane (GO:0031901) 1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236) breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 atggagtctcgctctgtcacc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF104304 CCDS563.1, CCDS564.1 1p32.3 2014-06-13 2004-05-21 2004-05-26 ENSG00000157077 ENSG00000157077 9372 Zinc fingers, FYVE domain containing 6775 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 173 603755 MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor MADHIP NA 9865696 Standard NM_007324 NM_007324 NA Approved SMADIP, SARA, PPP1R173 uc001cto.4 O95405 OTTHUMG00000008061 ENST00000371591.1:c.2178+11508G>A chr1.hg19:g.52716775G>A NA Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7 hg19 CCDS563.1 0.02 -0.149111 CTCxCTC COVERED NOVEL ZFYVE9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022083.1 5 2.407641 KEEP 0 0 0 8 271 GG 0.99257 0.289832 0 + 4 60 111 0 0 8.980982 13 60 428 37 ENST00000371591.1 0.235294 0.292001 ORC1 4998 __UNKNOWN__ __UNKNOWN__ 1 52838782 52838782 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:52838782C>T ENST00000371568.3 - 0 2875 ORC1_ENST00000371566.1_3'UTR NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 NA NA DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677) breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 ccagcctgggcgacagagcaa 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS566.1 1p32 2010-10-12 2010-10-12 2010-10-12 ENSG00000085840 ENSG00000085840 4998 ATPases / AAA-type 8487 protein-coding gene gene with protein product origin recognition complex, subunit 1, S. cerevisiae, homolog-like, origin recognition complex 1, replication control protein 1 601902 origin recognition complex, subunit 1 (yeast homolog)-like, origin recognition complex, subunit 1-like (yeast), origin recognition complex, subunit 1 homolog (S. cerevisiae) ORC1L NA 8884289 Standard NM_004153 NM_004153 NA Approved HSORC1, PARC1 uc001ctu.3 Q13415 OTTHUMG00000008104 ENST00000371568.3:c.*71G>A chr1.hg19:g.52838782C>T NA D3DQ34|Q13471|Q5T0F5 hg19 CCDS566.1 0.02 6.747014 GGGxGAC COVERED NOVEL ORC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022202.1 46 44.040137 KEEP 3 7 200 217 7464 CC 1 1 0 - 13 60 376 2 1 21.725811 234 60 7815 728 ENST00000371568.3 0.052632 1 ORC1 4998 __UNKNOWN__ __UNKNOWN__ 1 52838796 52838796 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:52838796C>T ENST00000371568.3 - 0 2861 ORC1_ENST00000371566.1_3'UTR NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 NA NA DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677) breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 agagcaagaccctgtctcaaa 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS566.1 1p32 2010-10-12 2010-10-12 2010-10-12 ENSG00000085840 ENSG00000085840 4998 ATPases / AAA-type 8487 protein-coding gene gene with protein product origin recognition complex, subunit 1, S. cerevisiae, homolog-like, origin recognition complex 1, replication control protein 1 601902 origin recognition complex, subunit 1 (yeast homolog)-like, origin recognition complex, subunit 1-like (yeast), origin recognition complex, subunit 1 homolog (S. cerevisiae) ORC1L NA 8884289 Standard NM_004153 NM_004153 NA Approved HSORC1, PARC1 uc001ctu.3 Q13415 OTTHUMG00000008104 ENST00000371568.3:c.*57G>A chr1.hg19:g.52838796C>T NA D3DQ34|Q13471|Q5T0F5 hg19 CCDS566.1 0.02 9.204372 GACxCTG COVERED NOVEL ORC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022202.1 62 58.040037 KEEP 2 8 254 282 9797 CC 1 1 0 - 11 60 309 2 1 16.221821 275 60 9407 862 ENST00000371568.3 0.038462 1 PRPF38A 84950 __UNKNOWN__ __UNKNOWN__ 1 52873880 52873880 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:52873880G>C ENST00000257181.9 + 3 476 PRPF38A_ENST00000474048.1_Intron NM_032864.3 NP_116253.2 Q8NAV1 PR38A_HUMAN pre-mRNA processing factor 38A NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822) cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1) 9 ccactgcactgcagcctgggc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092038 CCDS567.1 1p32.3 2013-10-03 2013-10-03 ENSG00000134748 ENSG00000134748 84950 25930 protein-coding gene gene with protein product PRP38 pre-mRNA processing factor 38 (yeast) domain containing A NA 12477932 Standard NM_032864 NM_032864 NA Approved FLJ14936, Prp38 uc001ctw.4 Q8NAV1 OTTHUMG00000008199 ENST00000257181.9:c.291-361G>C chr1.hg19:g.52873880G>C NA Q96JW1|Q9BVZ8 hg19 CCDS567.1 0.02 1.73069 ACTxCAG COVERED NOVEL PRPF38A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022459.2 7 2.276856 KEEP 0 2 55 27 982 GG 0.999997 0.998462 0 + 8 60 260 0 0 19.292766 57 60 1923 136 ENST00000257181.9 0.123077 0.998465 PRPF38A 84950 __UNKNOWN__ __UNKNOWN__ 1 52878470 52878470 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:52878470A>G ENST00000257181.9 + 5 795 PRPF38A_ENST00000474048.1_Intron NM_032864.3 NP_116253.2 Q8NAV1 PR38A_HUMAN pre-mRNA processing factor 38A NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822) cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1) 9 tcaggagttcaagaccagcct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092038 CCDS567.1 1p32.3 2013-10-03 2013-10-03 ENSG00000134748 ENSG00000134748 84950 25930 protein-coding gene gene with protein product PRP38 pre-mRNA processing factor 38 (yeast) domain containing A NA 12477932 Standard NM_032864 NM_032864 NA Approved FLJ14936, Prp38 uc001ctw.4 Q8NAV1 OTTHUMG00000008199 ENST00000257181.9:c.609+174A>G chr1.hg19:g.52878470A>G NA Q96JW1|Q9BVZ8 hg19 CCDS567.1 0.02 -0.210426 TTCxAGA COVERED NOVEL PRPF38A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022459.2 2 3.909626 KEEP 0 0 0 13 371 AA 0.994391 0.549786 0 + 3 60 96 0 0 7.227708 19 60 511 45 ENST00000257181.9 0.136364 0.552887 SCP2 6342 __UNKNOWN__ __UNKNOWN__ 1 53406061 53406061 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:53406061A>G ENST00000528311.1 + 2 180 SCP2_ENST00000371509.4_Intron|SCP2_ENST00000371513.5_Intron|SCP2_ENST00000371514.3_Intron|SCP2_ENST00000407246.2_Intron|MIR1273G_ENST00000577677.1_RNA NM_001193617.1 NP_001180546.1 Q9BX26 SYCP2_HUMAN sterol carrier protein 2 NA NA female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130) lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795) DNA binding (GO:0003677) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 ctccagcctgagtgacagagc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M75884 CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1 1p32 2010-08-20 ENSG00000116171 ENSG00000116171 6342 10606 protein-coding gene gene with protein product 184755 NA 1703300, 1718316 Standard NM_002979 NM_001007098 NA Approved uc001cur.2 P22307 OTTHUMG00000008936 ENST00000528311.1:c.-116-7620A>G chr1.hg19:g.53406061A>G NA A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27 hg19 CCDS53319.1 0.02 3.724714 CTGxGTG COVERED NOVEL SCP2-010 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387558.1 21 10.365807 KEEP 0 1 36 47 1487 AA 1 0.999999 0 + 9 60 289 1 0 20.103866 90 60 2708 214 ENST00000528311.1 0.090909 0.999999 SLC1A7 6512 __UNKNOWN__ __UNKNOWN__ 1 53552924 53552924 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:53552924T>A ENST00000371494.4 - 0 2567 SLC1A7_ENST00000488036.1_5'UTR NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 NA NA dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) AAAACCTGACTCCACTTGGAC 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(128;80 1811 21245 38490 51715) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U76362 CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1 1p32.3 2013-05-22 ENSG00000162383 ENSG00000162383 6512 Solute carriers 10945 protein-coding gene gene with protein product 604471 NA 9108121 Standard NM_006671 NM_001287597 NA Approved EAAT5 uc001cuy.3 O00341 OTTHUMG00000008937 ENST00000371494.4:c.*757A>T chr1.hg19:g.53552924T>A NA Q5VVZ0|Q969Z8|Q9BW45 hg19 CCDS574.1 0.02 2.89475 GACxCCA COVERED NOVEL SLC1A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024746.1 5 40.913375 KEEP 0 0 0 136 4269 TT 1 0.999999 0 - 20 60 589 0 0 44.662967 104 60 3085 359 ENST00000371494.4 0.16129 0.999999 CPT2 1376 __UNKNOWN__ __UNKNOWN__ 1 53679428 53679428 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:53679428T>C ENST00000371486.3 + 0 2653 RP5-1024G6.2_ENST00000452466.1_RNA NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 NA NA carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) carnitine O-palmitoyltransferase activity (GO:0004095) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) tggtgaaaccttgtctctact 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC002445 CCDS575.1 1p32.3 2014-01-09 2009-03-04 ENSG00000157184 ENSG00000157184 1376 2.3.1.21 2330 protein-coding gene gene with protein product 600650 carnitine palmitoyltransferase II CPT1 NA 1339389 Standard NM_000098 NM_000098 NA Approved CPTASE uc001cvb.4 P23786 OTTHUMG00000008942 ENST00000371486.3:c.*161T>C chr1.hg19:g.53679428T>C NA B2R6S0|Q5SW68|Q9BQ26 hg19 CCDS575.1 0.02 -0.333259 ACCxTGT COVERED NOVEL CPT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024757.1 9 8.241555 KEEP 5 1 33 39 1194 TT 1 0.851984 0 + 3 40 100 1 0 6.949177 33 60 967 85 ENST00000371486.3 0.083333 0.851984 CPT2 1376 __UNKNOWN__ __UNKNOWN__ 1 53679429 53679429 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:53679429T>C ENST00000371486.3 + 0 2654 RP5-1024G6.2_ENST00000452466.1_RNA NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 NA NA carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) carnitine O-palmitoyltransferase activity (GO:0004095) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) ggtgaaaccttgtctctacta 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC002445 CCDS575.1 1p32.3 2014-01-09 2009-03-04 ENSG00000157184 ENSG00000157184 1376 2.3.1.21 2330 protein-coding gene gene with protein product 600650 carnitine palmitoyltransferase II CPT1 NA 1339389 Standard NM_000098 NM_000098 NA Approved CPTASE uc001cvb.4 P23786 OTTHUMG00000008942 ENST00000371486.3:c.*162T>C chr1.hg19:g.53679429T>C NA B2R6S0|Q5SW68|Q9BQ26 hg19 CCDS575.1 0.02 -0.341951 CCTxGTC COVERED NOVEL CPT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024757.1 9 11.731876 KEEP 5 0 0 39 1176 TT 1 0.865745 0 + 4 60 117 1 0 8.110724 33 60 953 85 ENST00000371486.3 0.108108 0.865745 LRRC42 115353 __UNKNOWN__ __UNKNOWN__ 1 54426858 54426858 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:54426858A>G ENST00000371370.3 + 5 1245 LRRC42_ENST00000319223.4_Intron NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 NA NA breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 cgaggcgggcagatcacgagg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075201 CCDS585.1 1p33-p32.1 2014-02-12 ENSG00000116212 ENSG00000116212 115353 28792 protein-coding gene gene with protein product NA 12477932 Standard NM_052940 NM_001256409 NA Approved MGC8974 uc001cwj.2 Q9Y546 OTTHUMG00000008436 ENST00000371370.3:c.724+711A>G chr1.hg19:g.54426858A>G NA D3DQ46|Q8N2Q8 hg19 CCDS585.1 0.02 -0.280638 GGCxGAT COVERED NOVEL LRRC42-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023250.1 6 2.70669 KEEP 4 0 0 9 261 AA 0.99254 0.734154 0 + 3 60 94 0 0 6.553746 28 60 819 61 ENST00000371370.3 0.096774 0.739671 TCEANC2 127428 __UNKNOWN__ __UNKNOWN__ 1 54570345 54570345 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:54570345A>G ENST00000498272.1 + 5 1070 AL161915.1_ENST00000391366.1_Missense_Mutation_p.T69A Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) kidney(1)|lung(3)|pancreas(1) 5 ctcccgagtaactgggattac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056674 CCDS587.1 1p32.3 2011-01-25 2011-01-25 2011-01-25 ENSG00000116205 ENSG00000116205 127428 26494 protein-coding gene gene with protein product chromosome 1 open reading frame 83 C1orf83 NA 12477932 Standard NM_153035 NM_153035 NA Approved FLJ32112 uc001cwt.1 Q96MN5 OTTHUMG00000008434 ENST00000498272.1:c.1071-6380A>G chr1.hg19:g.54570345A>G NA Q5T702|Q8N8N2 hg19 0.02 -0.227815 GTAxCTG COVERED . . . . . . . . . . A 0 -2.762514 0.00084 . . ENSG00000212670 ENST00000391366 T 0.13089 2.62 0.498 -0.996 0.10218 . . . . . T 0.03783 0.0107 . . . 0.09310 N 1 . . . . . . T 0.40961 -0.9535 5 0.02654 T 1 . . . . . . . . A 69 ENSP00000375174:T69A ENSP00000375174:T69A T + 1 0 AL161915.1 54342933 . . 0.004000 0.12327 0.045000 0.14185 . . -0.586000 0.05898 -0.805000 0.03199 ACT NOVEL TCEANC2-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000023246.2 3 5.716523 KEEP 1 0 0 19 573 AA 0.99986 0.582848 0 + 4 52 118 0 0 9.016921 20 60 519 48 ENST00000498272.1 0.166667 0.58293 RP11-446E24.4 0 __UNKNOWN__ __UNKNOWN__ 1 54653567 54653567 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:54653567A>G ENST00000311841.7 - 4 518 CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000542737.1_Intron|CYB5RL_ENST00000401046.3_Intron|CYB5RL_ENST00000534324.1_Intron|CYB5RL_ENST00000419823.2_Intron|CYB5RL_ENST00000537208.1_Intron|MRPL37_ENST00000487096.1_Intron NA NA NA tggacaacatagtgaaacccg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000311841.7:c.199-155T>C chr1.hg19:g.54653567A>G NA hg19 0.02 -0.192933 CATxGTG COVERED NOVEL RP11-446E24.4-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000398770.1 5 3.008875 KEEP 0 0 0 10 312 AA 0.992708 0.454419 0 - 3 60 88 0 0 6.493234 18 60 515 37 ENST00000311841.7 0.142857 0.457757 SSBP3 23648 __UNKNOWN__ __UNKNOWN__ 1 54733621 54733621 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:54733621C>T ENST00000371320.3 - 6 777 SSBP3_ENST00000326956.7_Intron|SSBP3_ENST00000357475.4_Intron|SSBP3_ENST00000417664.2_Intron|SSBP3_ENST00000371319.3_Intron NM_145716.2 NP_663768.1 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 NA NA head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|protein complex (GO:0043234) single-stranded DNA binding (GO:0003697) central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 11 tccaggctggcctcaaactcc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS590.1, CCDS591.1, CCDS30726.1 1p32.3 2008-02-05 2001-11-28 ENSG00000157216 ENSG00000157216 23648 15674 protein-coding gene gene with protein product 607390 single-stranded DNA-binding protein 3 NA 12079286 Standard NM_018070 NM_145716 NA Approved CSDP, SSDP, FLJ10355, SSDP1 uc001cxe.4 Q9BWW4 OTTHUMG00000008264 ENST00000371320.3:c.367-9799G>A chr1.hg19:g.54733621C>T NA A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3 hg19 CCDS591.1 0.02 -0.175445 TGGxCTC COVERED NOVEL SSBP3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022721.1 8 2.70382 KEEP 0 0 0 9 282 CC 0.99254 0.384517 0 - 3 60 88 0 0 6.879027 13 60 449 38 ENST00000371320.3 0.1875 0.387407 SSBP3 23648 __UNKNOWN__ __UNKNOWN__ 1 54763097 54763097 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:54763097A>G ENST00000371320.3 - 5 687 SSBP3_ENST00000326956.7_Intron|SSBP3_ENST00000357475.4_Intron|SSBP3_ENST00000417664.2_Intron|SSBP3_ENST00000371319.3_Intron NM_145716.2 NP_663768.1 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 NA NA head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|protein complex (GO:0043234) single-stranded DNA binding (GO:0003697) central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 11 gaggtcaggaattcgagacca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS590.1, CCDS591.1, CCDS30726.1 1p32.3 2008-02-05 2001-11-28 ENSG00000157216 ENSG00000157216 23648 15674 protein-coding gene gene with protein product 607390 single-stranded DNA-binding protein 3 NA 12079286 Standard NM_018070 NM_145716 NA Approved CSDP, SSDP, FLJ10355, SSDP1 uc001cxe.4 Q9BWW4 OTTHUMG00000008264 ENST00000371320.3:c.277-15897T>C chr1.hg19:g.54763097A>G NA A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3 hg19 CCDS591.1 0.02 -0.227996 GGAxTTC COVERED NOVEL SSBP3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022721.1 5 2.70812 KEEP 2 0 0 9 279 AA 0.99254 0.578582 0 - 3 40 92 0 0 6.650507 22 60 615 54 ENST00000371320.3 0.12 0.58293 ACOT11 26027 __UNKNOWN__ __UNKNOWN__ 1 55104197 55104197 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:55104197C>A ENST00000371316.3 + 0 5701 NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 NA NA fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 ggcccagctactttttatatt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(148;1440 1861 22015 32453 51933) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014607 CCDS592.1, CCDS593.1 1p32.3 2011-09-13 2005-09-08 2005-09-08 ENSG00000162390 ENSG00000162390 26027 3.1.2.- Acyl CoA thioesterases, StAR-related lipid transfer (START) domain containing 18156 protein-coding gene gene with protein product StAR-related lipid transfer (START) domain containing 14 606803 thioesterase, adipose associated THEA NA 11696000, 16103133, 16940157 Standard NM_015547 NM_015547 NA Approved STARD14, BFIT, KIAA0707, BFIT1, THEM1 uc001cxl.2 Q8WXI4 OTTHUMG00000009891 ENST00000371316.3:c.*3795C>A chr1.hg19:g.55104197C>A NA B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883 hg19 CCDS592.1 0.02 -0.184199 CTAxTTT COVERED NOVEL ACOT11-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000027356.1 2 2.40799 KEEP 0 0 0 8 296 CC 0.99257 0.420331 0 + 4 60 112 0 0 8.669472 17 60 553 33 ENST00000371316.3 0.190476 0.423478 ACOT11 26027 __UNKNOWN__ __UNKNOWN__ 1 55104473 55104473 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:55104473A>G ENST00000371316.3 + 0 5977 NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 NA NA fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 acaggtgtgaaccactgtgct 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(148;1440 1861 22015 32453 51933) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014607 CCDS592.1, CCDS593.1 1p32.3 2011-09-13 2005-09-08 2005-09-08 ENSG00000162390 ENSG00000162390 26027 3.1.2.- Acyl CoA thioesterases, StAR-related lipid transfer (START) domain containing 18156 protein-coding gene gene with protein product StAR-related lipid transfer (START) domain containing 14 606803 thioesterase, adipose associated THEA NA 11696000, 16103133, 16940157 Standard NM_015547 NM_015547 NA Approved STARD14, BFIT, KIAA0707, BFIT1, THEM1 uc001cxl.2 Q8WXI4 OTTHUMG00000009891 ENST00000371316.3:c.*4071A>G chr1.hg19:g.55104473A>G NA B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883 hg19 CCDS592.1 0.02 1.581743 TGAxCCA COVERED NOVEL ACOT11-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000027356.1 14 5.048742 KEEP 0 1 32 28 888 AA 0.999997 0.999878 0 + 4 60 136 0 0 8.550705 79 60 2334 171 ENST00000371316.3 0.048193 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 55737840 55737840 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:55737840T>C NA NA RP11-101C11.1 (37990 upstream) : RN7SKP291 (104358 downstream) NA NA NA tggctgggcgtggtggctcac 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.55737840T>C NA hg19 0.02 -0.18417 GCGxGGT COVERED NOVEL 0 4 2.406652 KEEP 2 0 0 8 241 TT 0.99257 0.420331 0 3 60 106 0 0 8.433297 16 60 462 50 0.157895 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 60266262 60266262 __UNKNOWN__ IGR SNP T T C rs200977065 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:60266262T>C NA NA RP4-782L23.2 (11408 upstream) : HOOK1 (14270 downstream) NA NA NA tctctctccctctctctctgt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.60266262T>C NA hg19 0.02 -0.218673 CCCxCTC UNCOVERED NOVEL 0 27 2.397732 KEEP 8 0 0 8 228 TT 0 0 0 3 39 93 1 1 7.475218 12 60 319 51 0.2 0.552887 NFIA 4774 __UNKNOWN__ __UNKNOWN__ 1 61525552 61525552 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:61525552T>C ENST00000371191.1 + 2 208 Q12857 NFIA_HUMAN nuclear factor I/A NA NA DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 aggctggtcttgaactcctga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U07809 CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1 1p31.3-p31.2 2008-02-05 ENSG00000162599 ENSG00000162599 4774 7784 protein-coding gene gene with protein product 600727 NA 7590749 Standard NM_005595 NM_001134673 NA Approved NFI-L, KIAA1439 uc010oos.2 Q12857 OTTHUMG00000008618 ENST00000371191.1:c.97-28269T>C chr1.hg19:g.61525552T>C NA B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9 hg19 0.02 -0.201699 TCTxGAA COVERED NOVEL NFIA-002 PUTATIVE not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000023191.1 10 3.308597 KEEP 1 0 0 11 319 TT 0.993072 0.518544 0 + 3 60 96 0 0 7.29266 18 60 516 49 ENST00000371191.1 0.142857 0.522161 NFIA 4774 __UNKNOWN__ __UNKNOWN__ 1 61529609 61529609 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:61529609T>C ENST00000371191.1 + 2 208 Q12857 NFIA_HUMAN nuclear factor I/A NA NA DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 gggtctcactttgtcacccag 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U07809 CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1 1p31.3-p31.2 2008-02-05 ENSG00000162599 ENSG00000162599 4774 7784 protein-coding gene gene with protein product 600727 NA 7590749 Standard NM_005595 NM_001134673 NA Approved NFI-L, KIAA1439 uc010oos.2 Q12857 OTTHUMG00000008618 ENST00000371191.1:c.97-24212T>C chr1.hg19:g.61529609T>C NA B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9 hg19 0.02 -0.227954 ACTxTGT COVERED NOVEL NFIA-002 PUTATIVE not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000023191.1 6 2.406699 KEEP 0 0 0 8 232 TT 0.99257 0.578599 0 + 4 60 135 0 0 10.795415 19 60 515 41 ENST00000371191.1 0.173913 0.58293 INADL 10207 __UNKNOWN__ __UNKNOWN__ 1 62243893 62243893 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:62243893T>G ENST00000371158.2 + 7 963 INADL_ENST00000316485.6_Intron NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 tcgctttgtttcccaggctgg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB044807 CCDS617.2 1p31 2008-02-05 ENSG00000132849 ENSG00000132849 10207 28881 protein-coding gene gene with protein product 603199 NA 9280290, 11374908 Standard NM_170605 NM_176877 NA Approved Cipp, PATJ uc001dab.3 Q8NI35 OTTHUMG00000008560 ENST00000371158.2:c.849+2887T>G chr1.hg19:g.62243893T>G NA O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9 hg19 CCDS617.2 0.02 -0.236797 GTTxCCC COVERED NOVEL INADL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023639.2 6 3.009124 KEEP 0 0 0 10 315 TT 0.992708 0.607941 0 + 3 60 97 0 0 7.043769 24 60 712 54 ENST00000371158.2 0.111111 0.612407 L1TD1 54596 __UNKNOWN__ __UNKNOWN__ 1 62677454 62677454 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:62677454A>G ENST00000498273.1 + 0 3303 NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 NA NA breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 tggctaacacagtgaaacccc 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC060808 CCDS619.1 1p31.3 2009-01-12 ENSG00000240563 ENSG00000240563 54596 25595 protein-coding gene gene with protein product NA 12477932 Standard NM_019079 NM_001164835 NA Approved FLJ10884, ECAT11 uc001dae.4 Q5T7N2 OTTHUMG00000008914 ENST00000498273.1:c.*410A>G chr1.hg19:g.62677454A>G NA Q8NDA1|Q9NUV8|Q9NV78 hg19 CCDS619.1 0.02 -0.192932 CACxGTG COVERED NOVEL L1TD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024688.1 5 3.607206 KEEP 9 0 0 12 335 AA 0.993634 0.454842 0 + 3 40 91 0 1 6.861506 17 60 491 52 ENST00000498273.1 0.15 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 64912180 64912180 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:64912180A>G NA NA RNU7-62P (62038 upstream) : CACHD1 (24247 downstream) NA NA NA gtgagccaccacgcccggccg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.64912180A>G NA hg19 0.02 -0.219212 ACCxCGC UNCOVERED NOVEL 0 4 2.708076 KEEP 11 0 0 9 277 AA 0 0 0 3 60 104 0 0 7.849084 22 60 631 62 0.12 0.552887 CACHD1 57685 __UNKNOWN__ __UNKNOWN__ 1 65131620 65131620 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:65131620G>A ENST00000290039.5 + 16 2229 CACHD1_ENST00000495994.1_Intron|CACHD1_ENST00000371073.2_Intron NM_020925.2 NP_065976.2 Q5VU97 CAHD1_HUMAN cache domain containing 1 NA NA calcium ion transport (GO:0006816) integral component of membrane (GO:0016021) breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 cccaggaggcggagcttgcag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046793 CCDS628.2 1p31.3 2008-02-05 2005-10-11 2005-10-11 ENSG00000158966 ENSG00000158966 57685 29314 protein-coding gene gene with protein product von Willebrand factor type A and cache domain containing 1 VWCD1 NA 10997877 Standard NM_020925 NM_020925 NA Approved KIAA1573 uc001dbo.1 Q5VU97 OTTHUMG00000009030 ENST00000290039.5:c.2124-120G>A chr1.hg19:g.65131620G>A NA Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9 hg19 CCDS628.2 0.02 -0.114031 GGCxGAG UNCOVERED NOVEL CACHD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025238.1 3 2.707907 KEEP 3 0 0 9 283 GG 0.99254 0.161255 0 + 3 40 89 0 0 7.28192 10 60 325 33 ENST00000290039.5 0.230769 0.162467 SERBP1 26135 __UNKNOWN__ __UNKNOWN__ 1 67874889 67874889 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:67874889T>C ENST00000370994.4 - 0 5279 NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 NA NA regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 ccagcctgggtgacagagcca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF151813 CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1 1p31 2009-12-17 ENSG00000142864 ENSG00000142864 26135 17860 protein-coding gene gene with protein product 607378 NA 11001948, 10810093, 18440126, 17698176 Standard NM_001018067 NM_001018067 NA Approved PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP uc001ddv.3 Q8NC51 OTTHUMG00000009372 ENST00000370994.4:c.*4001A>G chr1.hg19:g.67874889T>C NA Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3 hg19 CCDS639.1 0.02 1.429603 GGGxGAC COVERED NOVEL SERBP1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000025983.2 15 7.453752 KEEP 0 1 38 38 1133 TT 1 0.999962 0 - 4 60 137 1 0 8.467817 88 60 2576 195 ENST00000370994.4 0.043478 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 68125793 68125793 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:68125793A>G NA NA RN7SL392P (2981 upstream) : GADD45A (24950 downstream) NA NA NA ctgcactccaacctgggtgac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.68125793A>G NA hg19 0.02 1.745271 CCAxCCT COVERED NOVEL 0 7 3.911997 KEEP 3 0 0 13 426 AA 0.993634 0.984655 0 4 60 134 1 0 9.409156 42 60 1264 80 0.086957 0.990964 SLC44A5 204962 __UNKNOWN__ __UNKNOWN__ 1 75687925 75687925 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:75687925A>G ENST00000370855.5 - 14 1199 SLC44A5_ENST00000535611.1_Intron|SLC44A5_ENST00000370859.3_Intron NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 acaggtgtgaaccaccgcgcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034580 CCDS667.1, CCDS44164.1 1p31.1 2013-05-22 ENSG00000137968 ENSG00000137968 204962 Solute carriers 28524 protein-coding gene gene with protein product NA 15715662 Standard NM_152697 NM_152697 NA Approved MGC34032, CTL5 uc001dgu.3 Q8NCS7 OTTHUMG00000009721 ENST00000370855.5:c.1085+120T>C chr1.hg19:g.75687925A>G NA B5MCU3|Q4G0K0|Q8NA44|Q8NB86 hg19 CCDS667.1 0.02 -0.333298 TGAxCCA COVERED NOVEL SLC44A5-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000026921.1 2 3.310436 KEEP 0 0 0 11 362 AA 0.993072 0.846082 0 - 3 60 98 0 0 6.676053 35 60 1060 62 ENST00000370855.5 0.078947 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 78241938 78241938 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:78241938G>A NA NA USP33 (16401 upstream) : FAM73A (3370 downstream) NA NA NA CAGACAGAAGGAAAAGAAACA 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.78241938G>A NA hg19 0.02 -0.271894 AAGxAAA COVERED NOVEL 0 5 2.40767 KEEP 0 0 0 8 273 GG 0.99257 0.711986 0 3 60 90 0 0 6.396181 23 60 747 66 0.115385 0.717315 FAM73A 374986 __UNKNOWN__ __UNKNOWN__ 1 78324510 78324510 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:78324510A>G ENST00000370791.3 + 9 1028 FAM73A_ENST00000443751.2_Intron NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A NA NA integral component of membrane (GO:0016021) breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) ttaccatgttacccaggctgg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS681.1, CCDS72809.1 1p31.1 2008-02-05 ENSG00000180488 ENSG00000180488 374986 24741 protein-coding gene gene with protein product NA Standard NM_198549 NM_001270384 NA Approved FLJ35093 uc010ork.3 Q8NAN2 OTTHUMG00000009766 ENST00000370791.3:c.997-113A>G chr1.hg19:g.78324510A>G NA Q6MZG0 hg19 CCDS681.1 0.02 -0.201698 GTTxCCC COVERED NOVEL FAM73A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000026931.1 2 3.008281 KEEP 0 0 0 10 298 AA 0.992708 0.486967 0 + 3 60 98 0 0 7.365262 20 60 570 37 ENST00000370791.3 0.130435 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 79857068 79857068 __UNKNOWN__ IGR SNP T T C rs527776637 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:79857068T>C NA NA RP4-726F1.1 (66520 upstream) : RP11-339A11.2 (723559 downstream) NA NA NA ggcgcggtggttcacgcctgt 0.557 NA T||| 1 0.000199681 0 0.0014 5008 , , NA 15721 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.79857068T>C NA hg19 0.02 -0.324401 TGGxTCA COVERED NOVEL 0 2 3.310189 KEEP 0 0 0 11 352 TT 0.993072 0.829926 0 4 60 147 0 0 11.208563 31 60 883 67 0.114286 0.835716 LPHN2 23266 __UNKNOWN__ __UNKNOWN__ 1 81967403 81967403 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:81967403C>T ENST00000370728.1 + 2 398 LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370725.1_Intron O95490 LPHN2_HUMAN latrophilin 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GCCTGGTGGGCTGTGCCCAGG 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ131581 CCDS689.1, CCDS72811.1 1p31.1 2014-08-08 2003-03-17 2003-05-02 ENSG00000117114 ENSG00000117114 23266 -, GPCR / Class B : Orphans 18582 protein-coding gene gene with protein product 607018 latrophilin 1 LPHH1 NA 10760572 Standard NM_012302 XR_248786 NA Approved KIAA0786, LEC1 uc001diu.3 O95490 OTTHUMG00000009844 ENST00000370728.1:c.-248+56629C>T chr1.hg19:g.81967403C>T NA A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6 hg19 0.02 2.603684 GGGxTGT COVERED NOVEL LPHN2-007 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000027188.1 1 4.039961 KEEP 5 1 30 24 812 CC 0.999892 0.99986 0 + 8 40 188 0 0 10.553233 93 60 3169 171 ENST00000370728.1 0.079208 0.999968 DDAH1 23576 __UNKNOWN__ __UNKNOWN__ 1 85799936 85799936 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:85799936C>G ENST00000284031.8 - 5 692 DDAH1_ENST00000535924.2_Intron|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000542148.1_Intron|DDAH1_ENST00000426972.3_Intron|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000539042.1_Intron|DDAH1_ENST00000483110.1_Intron NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 NA NA arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) caccatgattctaagtttcct 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB001915 CCDS705.1, CCDS44170.1 1p22 2008-02-05 ENSG00000153904 ENSG00000153904 23576 3.5.3.18 2715 protein-coding gene gene with protein product 604743 NA 9874257 Standard NM_012137 NA Approved DDAH uc001dlb.3 O94760 OTTHUMG00000010578 ENST00000284031.8:c.598-9370G>C chr1.hg19:g.85799936C>G NA Q5HYC8|Q86XK5 hg19 CCDS705.1 0.02 -0.368399 ATTxTAA COVERED NOVEL DDAH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029189.1 3 3.01 KEEP 0 0 0 10 371 CC 0.992708 0.90244 0 - 3 60 96 0 0 6.476301 35 60 1181 77 ENST00000284031.8 0.078947 0.909069 GTF2B 2959 __UNKNOWN__ __UNKNOWN__ 1 89352862 89352862 __UNKNOWN__ Intron SNP G G A rs536459360 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:89352862G>A ENST00000370500.5 - 2 243 GTF2B_ENST00000494819.1_Intron NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB NA NA gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) nucleoplasm (GO:0005654) core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) ttggcctcccgaagtgctgga 0.473 NA A||| 5 0.000998403 0.0038 0 5008 , , NA 17531 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M76766 CCDS715.1 1p22-p21 2010-03-23 ENSG00000137947 ENSG00000137947 2959 General transcription factors 4648 protein-coding gene gene with protein product 189963 NA 1876184, 8162052 Standard NM_001514 NM_001514 NA Approved TFIIB uc001dmo.4 Q00403 OTTHUMG00000010611 ENST00000370500.5:c.124+81C>T chr1.hg19:g.89352862G>A NA A8K1A7|Q5JS30 hg19 CCDS715.1 0.02 1.528914 CCCxAAG COVERED NOVEL GTF2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029279.1 5 5.748452 KEEP 0 2 56 39 1194 GG 1 0.992926 0 - 5 60 147 0 0 9.696452 53 60 1657 124 ENST00000370500.5 0.086207 0.992926 GTF2B 2959 __UNKNOWN__ __UNKNOWN__ 1 89352872 89352872 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:89352872A>G ENST00000370500.5 - 2 243 GTF2B_ENST00000494819.1_Intron NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB NA NA gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) nucleoplasm (GO:0005654) core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) gaagtgctggaattacaggcg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M76766 CCDS715.1 1p22-p21 2010-03-23 ENSG00000137947 ENSG00000137947 2959 General transcription factors 4648 protein-coding gene gene with protein product 189963 NA 1876184, 8162052 Standard NM_001514 NM_001514 NA Approved TFIIB uc001dmo.4 Q00403 OTTHUMG00000010611 ENST00000370500.5:c.124+71T>C chr1.hg19:g.89352872A>G NA A8K1A7|Q5JS30 hg19 CCDS715.1 0.02 1.639979 TGGxATT COVERED NOVEL GTF2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029279.1 6 8.355514 KEEP 0 1 38 41 1298 AA 1 0.9982 0 - 4 60 130 0 0 8.333958 63 60 1895 146 ENST00000370500.5 0.059701 0.9982 RBMXL1 494115 __UNKNOWN__ __UNKNOWN__ 1 89449434 89449434 __UNKNOWN__ Missense_Mutation SNP T T C rs2893084 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:89449434T>C ENST00000321792.5 - 2 503 c.76A>G c.(76-78)Aca>Gca p.T26A RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.T26A|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron NM_019610.5 NP_062556.2 Q96E39 RMXL1_HUMAN RNA binding motif protein, X-linked-like 1 26 RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NA CCAAATACTGTTTCAAGAGCT 0.413 NA OREG0013593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 184 183 183 NA NA NA 1 NA NA 89449434 2203 4300 6503 SO:0001583 missense BC012942 CCDS716.1 1p22.2 2013-02-12 2007-01-04 2007-01-04 ENSG00000213516 ENSG00000213516 494115 RNA binding motif (RRM) containing 25073 protein-coding gene gene with protein product kynurenine aminotransferase III NA 10441733 Standard NM_019610 NM_019610 NA Approved KAT3 uc001dms.3 Q96E39 OTTHUMG00000010661 ENST00000321792.5:c.76A>G chr1.hg19:g.89449434T>C ENSP00000318415:p.Thr26Ala 1267 hg19 CCDS716.1 0.02 2.006216 CTGxTTC COVERED . . . . . . . . . . T 3.554 -0.091124 0.07053 . . ENSG00000213516 ENST00000321792;ENST00000399794 D;D 0.85171 -1.95;-1.95 1.28 -2.56 0.06268 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.275039 0.28382 N 0.015553 T 0.30885 0.0779 N 0.03224 -0.385 0.20873 N 0.999835 B 0.02656 0.0 B 0.06405 0.002 T 0.49818 -0.8899 10 0.02654 T 1 7.3308 6.0529 0.19794 0.0:0.6607:0.0:0.3393 rs2893084 26 Q96E39 RBMXL_HUMAN A 26 ENSP00000318415:T26A;ENSP00000446099:T26A ENSP00000318415:T26A T - 1 0 RBMXL1 89222022 1.000000 0.71417 0.482000 0.27366 0.917000 0.54804 1.281000 0.33214 -0.855000 0.04125 -0.760000 0.03462 ACA NOVEL RBMXL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029403.3 3 6.60887 KEEP 2 3 103 58 1639 TT 1 0.976865 0 - 9 48 298 0 0 23.695823 43 60 1148 137 ENST00000321792.5 0.173077 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 89568938 89568938 __UNKNOWN__ IGR SNP T T C rs61798956 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:89568938T>C NA NA GBP1 (37895 upstream) : GBP2 (4744 downstream) NA NA NA cggtggctcatgcctgtaatc 0.488 NA t||| 16 0.00319489 0.0015 0.0058 5008 , , NA 11200 0.001 NA 0.008 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.89568938T>C NA hg19 0.02 3.420881 TCAxGCC COVERED NOVEL 0 16 14.821876 KEEP 1 3 105 86 2664 TT 1 1 0 9 60 302 1 0 20.587154 112 60 3312 303 0.07438 1 GBP4 115361 __UNKNOWN__ __UNKNOWN__ 1 89648187 89648187 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:89648187C>T ENST00000355754.6 - 0 4770 GBP4_ENST00000471938.1_Intron NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) ttttttgagacggagtttcgc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288814 CCDS721.1 1p22.2 2008-02-05 ENSG00000162654 ENSG00000162654 115361 20480 protein-coding gene gene with protein product 612466 NA 16689661 Standard NM_052941 NM_052941 NA Approved Mpa2 uc001dnb.3 Q96PP9 OTTHUMG00000010663 ENST00000355754.6:c.*2750G>A chr1.hg19:g.89648187C>T NA B2R630|Q05D63|Q6NSL0|Q86T99 hg19 CCDS721.1 0.02 1.473605 AGAxGGA COVERED NOVEL GBP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029409.1 10 8.124507 KEEP 10 0 0 27 869 CC 0.999988 0.986141 0 - 4 60 122 2 0 8.210704 42 60 1330 107 ENST00000355754.6 0.086957 0.986153 GBP4 115361 __UNKNOWN__ __UNKNOWN__ 1 89648744 89648744 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:89648744A>G ENST00000355754.6 - 0 4213 GBP4_ENST00000471938.1_Intron NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) ctactttaaaattcatatgga 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288814 CCDS721.1 1p22.2 2008-02-05 ENSG00000162654 ENSG00000162654 115361 20480 protein-coding gene gene with protein product 612466 NA 16689661 Standard NM_052941 NM_052941 NA Approved Mpa2 uc001dnb.3 Q96PP9 OTTHUMG00000010663 ENST00000355754.6:c.*2193T>C chr1.hg19:g.89648744A>G NA B2R630|Q05D63|Q6NSL0|Q86T99 hg19 CCDS721.1 0.02 5.921723 AAAxTTC COVERED NOVEL GBP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029409.1 24 15.383923 KEEP 0 5 168 110 3268 AA 1 1 0 - 8 60 248 1 0 14.693272 165 60 4762 368 ENST00000355754.6 0.046243 1 GBP4 115361 __UNKNOWN__ __UNKNOWN__ 1 89648987 89648987 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:89648987A>G ENST00000355754.6 - 0 3970 GBP4_ENST00000471938.1_Intron NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) atggggaaagaagtccccatt 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288814 CCDS721.1 1p22.2 2008-02-05 ENSG00000162654 ENSG00000162654 115361 20480 protein-coding gene gene with protein product 612466 NA 16689661 Standard NM_052941 NM_052941 NA Approved Mpa2 uc001dnb.3 Q96PP9 OTTHUMG00000010663 ENST00000355754.6:c.*1950T>C chr1.hg19:g.89648987A>G NA B2R630|Q05D63|Q6NSL0|Q86T99 hg19 CCDS721.1 0.02 1.275319 AAGxAGT COVERED NOVEL GBP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029409.1 5 4.881306 KEEP 0 2 62 38 1154 AA 1 0.999894 0 - 5 60 145 0 0 8.567999 83 60 2263 144 ENST00000355754.6 0.056818 0.999895 GBP4 115361 __UNKNOWN__ __UNKNOWN__ 1 89649543 89649543 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:89649543T>A ENST00000355754.6 - 0 3414 GBP4_ENST00000471938.1_Intron NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) agcctgggtgtcaaagtgaga 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288814 CCDS721.1 1p22.2 2008-02-05 ENSG00000162654 ENSG00000162654 115361 20480 protein-coding gene gene with protein product 612466 NA 16689661 Standard NM_052941 NM_052941 NA Approved Mpa2 uc001dnb.3 Q96PP9 OTTHUMG00000010663 ENST00000355754.6:c.*1394A>T chr1.hg19:g.89649543T>A NA B2R630|Q05D63|Q6NSL0|Q86T99 hg19 CCDS721.1 0.02 4.447411 GTGxCAA COVERED NOVEL GBP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029409.1 29 3.344178 KEEP 0 4 122 54 1713 TT 1 1 0 - 8 60 241 1 2 14.035158 157 60 4616 340 ENST00000355754.6 0.048485 1 FAM69A 388650 __UNKNOWN__ __UNKNOWN__ 1 93310988 93310988 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:93310988A>G ENST00000370310.4 - 5 545 NM_001006605.4|NM_001252269.1|NM_001252271.1 NP_001006606.2|NP_001239198.1|NP_001239200.1 Q5T7M9 FA69A_HUMAN family with sequence similarity 69, member A NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 4 all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127) cactttgggaagccaaggtgg 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027146 CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1 1p22 2014-06-25 ENSG00000154511 ENSG00000154511 388650 32213 protein-coding gene gene with protein product 614542 NA 21334309 Standard NM_001006605 NM_001006605 NA Approved FLJ23493 uc001dpg.3 Q5T7M9 OTTHUMG00000010894 ENST00000370310.4:c.475-1236T>C chr1.hg19:g.93310988A>G NA Q6IRV2 hg19 CCDS44173.1 0.02 1.675152 GGAxGCC COVERED NOVEL FAM69A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030046.2 12 9.0277 KEEP 0 0 0 30 967 AA 0.999997 0.996721 0 - 6 60 189 0 0 13.079803 59 60 1724 115 ENST00000370310.4 0.092308 0.996724 DNTTIP2 30836 __UNKNOWN__ __UNKNOWN__ 1 94334986 94334986 __UNKNOWN__ 3'UTR SNP G G C rs148692898 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:94334986G>C ENST00000436063.2 - 0 2749 NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) CCCCTacacagacacacacac 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY394925 CCDS44174.1 1p22.1 2008-02-05 ENSG00000067334 ENSG00000067334 30836 24013 protein-coding gene gene with protein product acidic 82 kDa protein mRNA 611199 NA 15047147 Standard NM_014597 NM_014597 NA Approved HSU15552, ERBP, TdIF2 uc001dqf.3 Q5QJE6 OTTHUMG00000010268 ENST00000436063.2:c.*421C>G chr1.hg19:g.94334986G>C NA Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9 hg19 CCDS44174.1 0.02 1.639876 ACAxACA COVERED NOVEL DNTTIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028317.2 15 15.049083 KEEP 0 0 0 50 1791 GG 1 0.998465 0 - 4 60 139 2 0 9.312907 60 60 2024 180 ENST00000436063.2 0.0625 0.998465 ABCA4 24 __UNKNOWN__ __UNKNOWN__ 1 94502117 94502117 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:94502117C>G ENST00000370225.3 - 26 3949 NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 NA NA phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) atttttagtacagatggggtt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U88667 CCDS747.1 1p22 2013-01-23 ENSG00000198691 ENSG00000198691 24 ATP binding cassette transporters / subfamily A 34 protein-coding gene gene with protein product Stargardt disease 601691 ATP-binding cassette transporter, retinal-specific STGD1, ABCR, RP19, STGD NA 9490294 Standard NM_000350 NM_000350 NA Approved FFM, ARMD2, CORD3 uc001dqh.3 P78363 OTTHUMG00000010622 ENST00000370225.3:c.3862+178G>C chr1.hg19:g.94502117C>G NA O15112|O60438|O60915|Q0QD48|Q4LE31 hg19 CCDS747.1 0.02 -0.15789 GTAxAGA COVERED NOVEL ABCA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029320.1 4 4.514573 KEEP 0 0 0 15 518 CC 0.99649 0.321674 0 - 3 60 92 1 0 7.192076 14 60 466 38 ENST00000370225.3 0.176471 0.322807 ARHGAP29 9411 __UNKNOWN__ __UNKNOWN__ 1 94674295 94674295 __UNKNOWN__ Intron SNP T T C rs551068107 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:94674295T>C ENST00000260526.6 - 5 693 ARHGAP29_ENST00000370217.3_Intron NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 NA NA positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ggattacaggtatgagccacc 0.463 NA T||| 2 0.000399361 0 0 5008 , , NA 16299 0 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS748.1 1p22.1 2011-06-29 ENSG00000137962 ENSG00000137962 9411 Rho GTPase activating proteins 30207 protein-coding gene gene with protein product 610496 NA 9305890 Standard NM_004815 NM_004815 NA Approved PARG1 uc001dqj.4 Q52LW3 OTTHUMG00000010643 ENST00000260526.6:c.510+92A>G chr1.hg19:g.94674295T>C NA O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6 hg19 CCDS748.1 0.02 1.854416 AGGxATG COVERED NOVEL ARHGAP29-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029376.2 6 4.542117 KEEP 1 1 37 28 769 TT 0.999997 0.990961 0 - 6 60 197 0 0 14.29263 50 60 1335 125 ENST00000260526.6 0.107143 0.990964 ARHGAP29 9411 __UNKNOWN__ __UNKNOWN__ 1 94674296 94674296 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:94674296A>G ENST00000260526.6 - 5 693 ARHGAP29_ENST00000370217.3_Intron NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 NA NA positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) gattacaggtatgagccacca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS748.1 1p22.1 2011-06-29 ENSG00000137962 ENSG00000137962 9411 Rho GTPase activating proteins 30207 protein-coding gene gene with protein product 610496 NA 9305890 Standard NM_004815 NM_004815 NA Approved PARG1 uc001dqj.4 Q52LW3 OTTHUMG00000010643 ENST00000260526.6:c.510+91T>C chr1.hg19:g.94674296A>G NA O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6 hg19 CCDS748.1 0.02 1.719031 GGTxTGA COVERED NOVEL ARHGAP29-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029376.2 6 9.022497 KEEP 1 0 0 30 858 AA 0.999997 0.994419 0 - 4 60 126 0 0 8.135402 56 60 1576 130 ENST00000260526.6 0.066667 0.994422 ABCD3 5825 __UNKNOWN__ __UNKNOWN__ 1 94944134 94944134 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:94944134T>C ENST00000370214.4 + 8 708 ABCD3_ENST00000315713.5_3'UTR|ABCD3_ENST00000536817.1_Intron|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Intron NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 NA NA ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) Tggccaggcgtggtggctcat 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 15 15 15 NA NA NA 1 NA NA 94944134 1568 3580 5148 SO:0001627 intron_variant M81182 CCDS749.1, CCDS44175.1 1p21.3 2012-05-16 ENSG00000117528 ENSG00000117528 5825 ATP binding cassette transporters / subfamily D 67 protein-coding gene gene with protein product 170995 PXMP1 NA 1301993, 8449508 Standard NM_002858 NM_002858 NA Approved PMP70, ZWS2 uc001dqn.4 P28288 OTTHUMG00000010717 ENST00000370214.4:c.684+263T>C chr1.hg19:g.94944134T>C NA D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529 hg19 CCDS749.1 0.02 -0.263076 GCGxGGT COVERED NOVEL ABCD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029597.1 3 3.610099 KEEP 1 0 0 12 363 TT 0.993634 0.689252 0 + 3 60 98 0 0 7.195189 23 60 638 52 ENST00000370214.4 0.115385 0.693668 F3 2152 __UNKNOWN__ __UNKNOWN__ 1 94995445 94995445 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:94995445G>C ENST00000334047.7 - 0 1622 F3_ENST00000370207.4_3'UTR NM_001993.4 NP_001984.1 P13726 TF_HUMAN coagulation factor III (thromboplastin, tissue factor) NA NA activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897) cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886) phospholipid binding (GO:0005543)|protease binding (GO:0002020) NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) gcctggccaagatggtgaaac 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(40;358 1339 15970 39161) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC011029 CCDS750.1, CCDS53345.1 1p22-p21 2012-10-02 ENSG00000117525 ENSG00000117525 2152 CD molecules 3541 protein-coding gene gene with protein product 134390 NA Standard NM_001993 NM_001993 NA Approved CD142 uc001dqr.3 P13726 OTTHUMG00000010716 ENST00000334047.7:c.*571C>G chr1.hg19:g.94995445G>C NA D3DT47|Q6FHG2|Q86WH4 hg19 CCDS750.1 0.02 -0.254373 CAAxATG COVERED NOVEL F3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029593.1 2 5.116201 KEEP 1 0 0 17 572 GG 0.997832 0.692164 0 - 4 60 122 0 0 9.123566 24 60 750 50 ENST00000334047.7 0.142857 0.693668 DPYD 1806 __UNKNOWN__ __UNKNOWN__ 1 98185745 98185745 __UNKNOWN__ Intron SNP A A C rs201017442 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:98185745A>C ENST00000370192.3 - 5 584 DPYD_ENST00000474241.1_Intron|DPYD_ENST00000306031.5_3'UTR|DPYD_ENST00000423006.2_Intron NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase NA NA beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212) cytoplasm (GO:0005737)|cytosol (GO:0005829) 4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544) cacacacacaaacacacacac 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U20938 CCDS30777.1, CCDS53346.1 1p22 2014-09-17 ENSG00000188641 ENSG00000188641 1806 1.3.1.2 3012 protein-coding gene gene with protein product 612779 NA 7713523 Standard NM_000110 NM_000110 NA Approved DPD uc001drv.3 Q12882 OTTHUMG00000039683 ENST00000370192.3:c.483+1320T>G chr1.hg19:g.98185745A>C NA A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1 hg19 CCDS30777.1 0.02 -0.245427 ACAxACA COVERED NOVEL DPYD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095698.3 10 6.918576 KEEP 1 0 0 23 677 AA 0.999892 0.668451 0 - 4 60 108 0 0 7.877216 22 60 633 70 ENST00000370192.3 0.153846 0.668523 NTNG1 22854 __UNKNOWN__ __UNKNOWN__ 1 107946263 107946263 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:107946263T>C ENST00000370068.1 + 5 1906 NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370070.2_Splice_Site_p.C361C|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370072.3_Splice_Site_p.C361C|NTNG1_ENST00000542803.1_Splice_Site_p.C361C|NTNG1_ENST00000370067.1_Intron Q9Y2I2 NTNG1_HUMAN netrin G1 NA NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) acctgggaggtggaggttgca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023193 CCDS30785.1, CCDS44179.1, CCDS44180.1 1p13.2-p13.1 2013-03-01 ENSG00000162631 ENSG00000162631 22854 Netrins 23319 protein-coding gene gene with protein product netrin G1f, Netrin-G1 608818 NA 10964959 Standard NM_014917 NM_001113226 NA Approved KIAA0976, Lmnt1 uc001dvh.4 Q9Y2I2 OTTHUMG00000010965 ENST00000370068.1:c.1061-4041T>C chr1.hg19:g.107946263T>C NA Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633 hg19 CCDS44180.1 0.02 3.462145 AGGxGGA COVERED NOVEL NTNG1-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000030340.1 5 5.096152 KEEP 0 3 88 48 1265 TT 1 0.999998 0 + 6 60 184 2 0 11.393445 95 70 2388 200 ENST00000370068.1 0.059406 0.999998 FAM102B 284611 __UNKNOWN__ __UNKNOWN__ 1 109171339 109171339 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:109171339C>G ENST00000405454.1 + 9 1223 c.883C>G c.(883-885)Cga>Gga p.R295G FAM102B_ENST00000370035.3_Missense_Mutation_p.R295G Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B 295 NA autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) TCAGCTGAAGCGAGTTGATGA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 68 63 65 NA NA NA 1 NA NA 109171339 2203 4300 6503 SO:0001583 missense CR749397 CCDS30786.2 1p13.3 2012-11-05 ENSG00000162636 ENSG00000162636 284611 27637 protein-coding gene gene with protein product sym-3 homolog B (C. elegans) NA Standard NM_001010883 NM_001010883 NA Approved DKFZp779B126, SYM-3B uc010ouy.2 Q5T8I3 OTTHUMG00000010967 ENST00000405454.1:c.883C>G chr1.hg19:g.109171339C>G ENSP00000386084:p.Arg295Gly NA A1L1A1|B0QZ46|B0QZ47|Q68DH7 hg19 0.02 1.845075 AAGxGAG COVERED . . . . . . . . . . C 14.99 2.700332 0.48307 . . ENSG00000162636 ENST00000370035;ENST00000405454;ENST00000437902 T;T 0.27402 1.67;1.67 5.85 5.85 0.93711 . 0.000000 0.85682 D 0.000000 T 0.49847 0.1581 M 0.83483 2.645 0.58432 D 0.999994 D 0.89917 1.0 D 0.85130 0.997 T 0.50415 -0.8831 10 0.45353 T 0.12 -10.6016 13.1216 0.59329 0.2642:0.7358:0.0:0.0 . 295 Q5T8I3 F102B_HUMAN G 295 ENSP00000359052:R295G;ENSP00000386084:R295G ENSP00000359052:R295G R + 1 2 FAM102B 108972862 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 0.977000 0.29475 2.768000 0.95171 0.655000 0.94253 CGA NOVEL FAM102B-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000323368.1 1 17.456895 KEEP 0 0 0 58 2056 CC 1 0.990964 0 + 19 60 630 0 0 55.805203 41 60 1304 171 ENST00000405454.1 0.316667 0.990964 CLCC1 23155 __UNKNOWN__ __UNKNOWN__ 1 109488597 109488597 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:109488597T>C ENST00000369971.2 - 4 469 CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000356970.2_Intron|CLCC1_ENST00000415331.1_Intron|CLCC1_ENST00000369970.3_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000302500.4_Intron|CLCC1_ENST00000348264.2_Intron NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 NA NA chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) chloride channel activity (GO:0005254) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) ccagcctggctaacatggtga 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018304 CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1 1p13.3 2008-02-05 ENSG00000121940 ENSG00000121940 23155 29675 protein-coding gene gene with protein product Mid1-related chloride channel (yeast) NA 9872452, 11279057 Standard NM_015127 NM_001048210 NA Approved MCLC uc001dwf.2 Q96S66 OTTHUMG00000011732 ENST00000369971.2:c.339+1635A>G chr1.hg19:g.109488597T>C NA O94861|Q8WYP8|Q8WYP9|Q9BU25 hg19 CCDS41362.1 0.02 -0.201661 GGCxAAC COVERED NOVEL CLCC1-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032405.1 8 2.407358 KEEP 0 0 0 8 251 TT 0.99257 0.4869 0 - 3 60 91 0 0 6.667115 20 60 552 39 ENST00000369971.2 0.130435 0.490544 WDR47 22911 __UNKNOWN__ __UNKNOWN__ 1 109553486 109553486 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:109553486A>G ENST00000369965.4 - 5 1391 WDR47_ENST00000400794.3_Intron|WDR47_ENST00000357672.3_Intron|WDR47_ENST00000369962.3_Intron|WDR47_ENST00000361054.3_Intron NM_001142550.1|NM_001142551.1|NM_014969.5 NP_001136022.1|NP_001136023.1|NP_055784.3 O94967 WDR47_HUMAN WD repeat domain 47 NA NA multicellular organismal development (GO:0007275) cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ttacaggcataagccactgca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 67 75 73 NA NA NA 1 NA NA 109553486 876 1991 2867 SO:0001627 intron_variant AB020700 CCDS30787.1, CCDS44186.1, CCDS44187.1 1p13.3 2013-01-09 ENSG00000085433 ENSG00000085433 22911 WD repeat domain containing 29141 protein-coding gene gene with protein product 615734 NA 10048485 Standard NM_014969 NM_014969 NA Approved KIAA0893 uc001dwl.3 O94967 OTTHUMG00000011734 ENST00000369965.4:c.1130+51T>C chr1.hg19:g.109553486A>G NA A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9 hg19 CCDS30787.1 0.02 -0.403335 CATxAGC COVERED NOVEL WDR47-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000032413.2 8 5.717195 KEEP 0 0 0 19 586 AA 0.99986 0.934361 0 - 3 60 101 0 0 6.747646 42 60 1161 80 ENST00000369965.4 0.066667 0.934492 CYB561D1 284613 __UNKNOWN__ __UNKNOWN__ 1 110037192 110037192 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:110037192G>C ENST00000527072.1 + 1 188 CYB561D1_ENST00000496961.1_Intron|CYB561D1_ENST00000430195.2_Missense_Mutation_p.V67L|CYB561D1_ENST00000533024.1_Intron|CYB561D1_ENST00000528785.1_Intron|CYB561D1_ENST00000369868.3_Missense_Mutation_p.V67L|CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000420578.2_Intron|CYB561D1_ENST00000310611.4_Missense_Mutation_p.V67L Q8N8Q1 C56D1_HUMAN cytochrome b561 family, member D1 NA NA oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021) metal ion binding (GO:0046872) breast(1)|large_intestine(3)|prostate(1) 5 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) ggcgcggtgggtcatgcctga 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 76 75 75 NA NA NA 1 NA NA 110037192 692 1591 2283 SO:0001627 intron_variant AK096354 CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1 1p13.2 2013-03-14 2013-03-14 ENSG00000174151 ENSG00000174151 284613 Cytochrome b genes 26804 protein-coding gene gene with protein product cytochrome b-561 domain containing 1 NA 23249217 Standard NM_182580 NM_182580 NA Approved FLJ39035, FLJ44753 uc010ovo.2 Q8N8Q1 OTTHUMG00000011051 ENST00000527072.1:c.148+283G>C chr1.hg19:g.110037192G>C NA B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3 hg19 0.02 3.727729 TGGxTCA COVERED . . . . . . . . . . G 13.45 2.241467 0.39598 . . ENSG00000174151 ENST00000310611;ENST00000369868;ENST00000430195 . . . 1.21 1.21 0.21127 . . . . . T 0.01940 0.0061 N 0.00146 -1.995 0.09310 N 1 B;B;B 0.25904 0.0;0.137;0.137 B;B;B 0.18263 0.0;0.021;0.021 T 0.39418 -0.9615 8 0.87932 D 0 -2.9473 5.6353 0.17534 0.0:0.0:1.0:0.0 . 67;67;67 Q8N8Q1-3;Q5T6C3;Q8N8Q1-2 .;.;. L 67 . ENSP00000309324:V67L V + 1 0 CYB561D1 109838715 0.907000 0.30839 0.004000 0.12327 0.305000 0.27757 1.254000 0.32897 0.576000 0.29452 0.313000 0.20887 GTC NOVEL CYB561D1-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390142.1 6 20.100385 KEEP 0 0 0 67 2281 GG 1 1 0 + 5 60 173 0 0 10.610156 118 60 3897 262 ENST00000527072.1 0.04065 1 CYB561D1 284613 __UNKNOWN__ __UNKNOWN__ 1 110037202 110037202 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:110037202A>T ENST00000527072.1 + 1 188 CYB561D1_ENST00000496961.1_Intron|CYB561D1_ENST00000430195.2_Missense_Mutation_p.E70V|CYB561D1_ENST00000533024.1_Intron|CYB561D1_ENST00000528785.1_Intron|CYB561D1_ENST00000369868.3_Missense_Mutation_p.E70V|CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000420578.2_Intron|CYB561D1_ENST00000310611.4_Missense_Mutation_p.E70V Q8N8Q1 C56D1_HUMAN cytochrome b561 family, member D1 NA NA oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021) metal ion binding (GO:0046872) breast(1)|large_intestine(3)|prostate(1) 5 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) gtcatgcctgaaatcccagca 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 68 66 67 NA NA NA 1 NA NA 110037202 692 1591 2283 SO:0001627 intron_variant AK096354 CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1 1p13.2 2013-03-14 2013-03-14 ENSG00000174151 ENSG00000174151 284613 Cytochrome b genes 26804 protein-coding gene gene with protein product cytochrome b-561 domain containing 1 NA 23249217 Standard NM_182580 NM_182580 NA Approved FLJ39035, FLJ44753 uc010ovo.2 Q8N8Q1 OTTHUMG00000011051 ENST00000527072.1:c.148+293A>T chr1.hg19:g.110037202A>T NA B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3 hg19 0.02 2.910159 CTGxAAT COVERED . . . . . . . . . . A 14.25 2.479471 0.44044 . . ENSG00000174151 ENST00000310611;ENST00000369868;ENST00000430195 . . . 1.21 -0.36 0.12568 . . . . . T 0.01320 0.0043 N 0.00133 -2.03 0.09310 N 1 B;P;P 0.34684 0.001;0.463;0.463 B;B;B 0.31290 0.0;0.127;0.127 T 0.37103 -0.9720 8 0.87932 D 0 . 3.1234 0.06398 0.676:0.0:0.324:0.0 . 70;70;70 Q8N8Q1-3;Q5T6C3;Q8N8Q1-2 .;.;. V 70 . ENSP00000309324:E70V E + 2 0 CYB561D1 109838725 0.001000 0.12720 0.028000 0.17463 0.660000 0.38997 -0.298000 0.08265 -0.292000 0.08999 0.260000 0.18958 GAA NOVEL CYB561D1-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390142.1 5 15.642732 KEEP 0 0 0 52 1527 AA 1 0.999994 0 + 7 60 197 0 0 11.985688 95 60 2601 204 ENST00000527072.1 0.068627 0.999994 CYB561D1 284613 __UNKNOWN__ __UNKNOWN__ 1 110042174 110042174 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:110042174T>C ENST00000528785.1 + 4 721 CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000310611.4_3'UTR Q8N8Q1 C56D1_HUMAN cytochrome b561 family, member D1 NA NA oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021) metal ion binding (GO:0046872) breast(1)|large_intestine(3)|prostate(1) 5 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) ttagtagagatggggtttcac 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK096354 CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1 1p13.2 2013-03-14 2013-03-14 ENSG00000174151 ENSG00000174151 284613 Cytochrome b genes 26804 protein-coding gene gene with protein product cytochrome b-561 domain containing 1 NA 23249217 Standard NM_182580 NM_182580 NA Approved FLJ39035, FLJ44753 uc010ovo.2 Q8N8Q1 OTTHUMG00000011051 ENST00000528785.1:c.687-2831T>C chr1.hg19:g.110042174T>C NA B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3 hg19 0.02 -0.096455 AGAxGGG UNCOVERED NOVEL CYB561D1-008 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000390143.1 3 2.70782 KEEP 0 0 0 9 269 TT 0.99254 0.119538 0 + 3 60 98 0 0 8.433019 8 60 216 23 ENST00000528785.1 0.272727 0.120436 GSTM2 2946 __UNKNOWN__ __UNKNOWN__ 1 110215769 110215769 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:110215769A>G ENST00000241337.4 + 7 617 GSTM2_ENST00000369829.2_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369831.2_Intron NM_000848.3 NP_000839.1 P28161 GSTM2_HUMAN glutathione S-transferase mu 2 (muscle) NA NA cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529) enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) tgggattacaagcgtgagcca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M63509 CCDS808.1, CCDS44192.1 1p13.3 2012-06-21 2008-11-26 ENSG00000213366 ENSG00000213366 2946 2.5.1.18 Glutathione S-transferases / Soluble 4634 protein-coding gene gene with protein product 138380 glutathione S-transferase M2 (muscle) NA 2034681, 2345169 Standard NM_000848 NM_000848 NA Approved GST4 P28161 OTTHUMG00000011638 ENST00000241337.4:c.567+1564A>G chr1.hg19:g.110215769A>G NA B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1 hg19 CCDS808.1 0.02 5.970755 ACAxGCG COVERED NOVEL GSTM2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032167.2 20 12.545763 KEEP 1 6 222 119 3861 AA 1 1 0 + 11 60 379 0 0 26.316008 132 60 3985 386 ENST00000241337.4 0.076923 1 CSF1 1435 __UNKNOWN__ __UNKNOWN__ 1 110453379 110453379 __UNKNOWN__ 5'UTR SNP A A G rs561803747 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:110453379A>G ENST00000329608.6 + 0 125 CSF1_ENST00000344188.5_5'UTR NM_000757.5|NM_172211.3 NP_000748|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) NA NA branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) gtgtgtgtgtatgtgtgtgtC 0.647 NA A||| 37 0.00738818 0.0121 0.0029 5008 , , NA 7712 0.0069 NA 0.007 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC021117 CCDS816.1, CCDS817.1, CCDS30797.1 1p13.3 2012-09-20 ENSG00000184371 ENSG00000184371 1435 2432 protein-coding gene gene with protein product 120420 NA 1540160 Standard NM_000757 NM_172210 NA Approved M-CSF, MCSF, MGC31930 uc001dyw.4 P09603 OTTHUMG00000011646 ENST00000329608.6:c.-267A>G chr1.hg19:g.110453379A>G NA A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8 hg19 CCDS816.1 0.02 7.579386 TGTxTGT COVERED NOVEL CSF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032208.1 26 13.797847 KEEP 0 3 112 85 2448 AA 1 1 0 + 8 60 266 1 0 15.965273 186 60 4947 424 ENST00000329608.6 0.041237 1 SLC16A4 9122 __UNKNOWN__ __UNKNOWN__ 1 110906229 110906229 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:110906229A>C ENST00000472422.2 - 0 1672 SLC16A4_ENST00000369781.4_3'UTR|SLC16A4_ENST00000369779.4_3'UTR NM_001201546.1 NP_001188475.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 NA NA monocarboxylic acid transport (GO:0015718) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293) breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) gcctgggcgaaagagcgagac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U59185 CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1 1p13.3 2013-07-18 2013-07-18 ENSG00000168679 ENSG00000168679 9122 Solute carriers 10925 protein-coding gene gene with protein product 603878 solute carrier family 16 (monocarboxylic acid transporters), member 4, solute carrier family 16, member 4 (monocarboxylic acid transporter 5) NA 9425115 Standard NM_004696 NM_004696 NA Approved MCT4, MCT5 uc001dzo.2 O15374 OTTHUMG00000011285 ENST00000472422.2:c.*159T>G chr1.hg19:g.110906229A>C NA A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09 hg19 CCDS55623.1 0.02 1.635729 CGAxAGA COVERED NOVEL SLC16A4-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000031955.3 7 11.429352 KEEP 5 0 0 38 1197 AA 1 0.999768 0 - 4 60 139 2 0 9.209305 64 60 1846 142 ENST00000472422.2 0.058824 0.999768 ST7L 54879 __UNKNOWN__ __UNKNOWN__ 1 113121734 113121734 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:113121734T>C ENST00000343210.7 - 10 1145 ST7L_ENST00000544629.1_Intron|ST7L_ENST00000369668.2_Intron|ST7L_ENST00000369669.1_Intron|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000369666.1_Intron|ST7L_ENST00000360743.4_Intron|ST7L_ENST00000358039.4_Intron|ST7L_ENST00000463235.1_Intron|ST7L_ENST00000538187.1_Intron|ST7L_ENST00000490067.1_Intron NM_138729.3 NP_620057.1 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7 like NA NA negative regulation of cell growth (GO:0030308) integral component of membrane (GO:0016021) endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) Tggacgggcgtggtggctcat 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB081317 CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1 1p13.1 2008-06-06 ENSG00000007341 ENSG00000007341 54879 18441 protein-coding gene gene with protein product NA 12012006 Standard NM_138729 NA Approved FLJ20284, STLR, ST7R, FAM4B uc001ecd.3 Q8TDW4 OTTHUMG00000011753 ENST00000343210.7:c.1070-695A>G chr1.hg19:g.113121734T>C NA A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3 hg19 CCDS852.1 0.02 -0.105172 GCGxGGT UNCOVERED NOVEL ST7L-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032507.1 2 3.004142 KEEP 0 0 0 10 278 TT 0.992708 0.138812 0 - 3 60 92 0 0 7.833858 8 60 224 29 ENST00000343210.7 0.272727 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 113433636 113433636 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:113433636A>G NA NA RP3-522D1.1 (13143 upstream) : SLC16A1 (20832 downstream) NA NA NA tttttgagacagagtcttgct 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.113433636A>G NA hg19 0.02 -0.394622 GACxGAG COVERED NOVEL 0 7 2.407083 KEEP 1 0 0 8 247 AA 0.99257 0.919755 0 3 60 97 1 0 6.767963 30 60 851 70 0.090909 0.92664 LRIG2 9860 __UNKNOWN__ __UNKNOWN__ 1 113667537 113667537 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:113667537T>C ENST00000361127.5 + 0 4210 LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 NA NA innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) aatcccagcattttgagaggc 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018349 CCDS30808.1 1p13.1 2013-01-11 ENSG00000198799 ENSG00000198799 9860 Immunoglobulin superfamily / I-set domain containing 20889 protein-coding gene gene with protein product 608869 NA Standard NM_014813 XM_005271369 NA Approved KIAA0806 uc001edf.1 O94898 OTTHUMG00000012133 ENST00000361127.5:c.*814T>C chr1.hg19:g.113667537T>C NA Q9NSN2 hg19 CCDS30808.1 0.02 1.599501 GCAxTTT COVERED NOVEL LRIG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033549.2 15 5.315637 KEEP 0 3 101 53 1573 TT 1 0.999835 0 + 5 60 154 0 0 9.541621 80 60 2229 161 ENST00000361127.5 0.058824 0.999835 LRIG2 9860 __UNKNOWN__ __UNKNOWN__ 1 113667542 113667542 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:113667542A>G ENST00000361127.5 + 0 4215 LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 NA NA innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) cagcattttgagaggctaagg 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018349 CCDS30808.1 1p13.1 2013-01-11 ENSG00000198799 ENSG00000198799 9860 Immunoglobulin superfamily / I-set domain containing 20889 protein-coding gene gene with protein product 608869 NA Standard NM_014813 XM_005271369 NA Approved KIAA0806 uc001edf.1 O94898 OTTHUMG00000012133 ENST00000361127.5:c.*819A>G chr1.hg19:g.113667542A>G NA Q9NSN2 hg19 CCDS30808.1 0.02 1.473801 TTGxGAG COVERED NOVEL LRIG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033549.2 15 10.400371 KEEP 0 2 67 58 1848 AA 1 0.999895 0 + 5 60 163 0 0 10.357534 83 60 2432 168 ENST00000361127.5 0.056818 0.999895 MAGI3 260425 __UNKNOWN__ __UNKNOWN__ 1 114128242 114128242 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:114128242C>G ENST00000307546.9 + 4 838 MAGI3_ENST00000369615.1_Intron|MAGI3_ENST00000369617.4_Intron|MAGI3_ENST00000369611.4_Intron NM_001142782.1 NP_001136254.1 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 NA NA apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032) membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923) ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGAACAACTTCTAACTGATCT 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 52 53 NA NA NA 1 NA NA 114128242 2203 4300 6503 SO:0001627 intron_variant AF213259 CCDS860.1, CCDS44196.1 1p12-p11.2 2008-02-05 ENSG00000081026 ENSG00000081026 260425 29647 protein-coding gene gene with protein product 615943 NA 10997877, 10748157 Standard NM_152900 NM_152900 NA Approved MAGI-3 uc001edk.3 Q5TCQ9 OTTHUMG00000011737 ENST00000307546.9:c.763+24C>G chr1.hg19:g.114128242C>G NA Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8 hg19 CCDS44196.1 0.02 -0.3158 CTTxTAA COVERED NOVEL MAGI3-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000032429.1 2 6.621413 KEEP 0 0 0 22 782 CC 0.999879 0.818365 0 + 19 60 631 0 0 61.350843 17 60 573 69 ENST00000307546.9 0.527778 0.818465 PHTF1 10745 __UNKNOWN__ __UNKNOWN__ 1 114268551 114268551 __UNKNOWN__ Intron SNP T T C rs542482862 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:114268551T>C ENST00000369604.1 - 6 972 PHTF1_ENST00000369600.1_Intron|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000357783.2_Intron|PHTF1_ENST00000369596.2_Intron|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000393357.2_Intron Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 NA NA transcription, DNA-templated (GO:0006351) cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) gattgcgccattgcactccag 0.453 NA T||| 1 0.000199681 0 0 5008 , , NA 14203 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ011863 CCDS861.1 1p13-p11 2008-07-18 ENSG00000116793 ENSG00000116793 10745 8939 protein-coding gene gene with protein product 604950 PHTF NA 10395808 Standard NM_006608 NM_006608 NA Approved uc009wgp.1 Q9UMS5 OTTHUMG00000011800 ENST00000369604.1:c.488+488A>G chr1.hg19:g.114268551T>C NA Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8 hg19 CCDS861.1 0.02 1.426765 CCAxTGC COVERED NOVEL PHTF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032666.1 15 9.020441 KEEP 0 0 0 30 912 TT 0.999997 0.999723 0 - 5 60 160 0 0 10.085934 82 60 2350 166 ENST00000369604.1 0.057471 0.999726 RSBN1 54665 __UNKNOWN__ __UNKNOWN__ 1 114346488 114346488 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:114346488A>G ENST00000261441.5 - 2 767 NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 NA NA nucleus (GO:0005634) breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) actttgggagactgaggcagg 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK002082 CCDS862.1 1p13.1 2008-02-05 ENSG00000081019 ENSG00000081019 54665 25642 protein-coding gene gene with protein product 615858 NA 12477932 Standard NM_018364 NM_018364 NA Approved FLJ11220, ROSBIN uc001edq.3 Q5VWQ0 OTTHUMG00000011938 ENST00000261441.5:c.704-5830T>C chr1.hg19:g.114346488A>G NA A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6 hg19 CCDS862.1 0.02 -0.228002 GAGxCTG COVERED NOVEL RSBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033022.2 3 2.407647 KEEP 0 0 0 8 265 AA 0.99257 0.607857 0 - 3 60 99 0 0 7.465924 20 60 596 45 ENST00000261441.5 0.130435 0.612407 PTGFRN 5738 __UNKNOWN__ __UNKNOWN__ 1 117487601 117487601 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:117487601C>A ENST00000393203.2 + 3 866 c.719C>A c.(718-720)gCc>gAc p.A240D NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 240 Ig-like C2-type 2. NA lipid particle organization (GO:0034389) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GCTCTGTCTGCCGACCAGGGC 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 36 36 36 NA NA NA 1 NA NA 117487601 2203 4300 6503 SO:0001583 missense AB014734 CCDS890.1 1p13.1 2013-01-29 2013-01-25 ENSG00000134247 ENSG00000134247 5738 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9601 protein-coding gene gene with protein product 601204 prostaglandin F2 receptor negative regulator NA 8655148 Standard NM_020440 NM_020440 NA Approved FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315 uc001egv.1 Q9P2B2 OTTHUMG00000012028 ENST00000393203.2:c.719C>A chr1.hg19:g.117487601C>A ENSP00000376899:p.Ala240Asp NA Q5VVU9|Q8N2K6 hg19 CCDS890.1 0.02 11.302548 CTGxCGA COVERED . . . . . . . . . . C 14.00 2.404096 0.42613 . . ENSG00000134247 ENST00000393203;ENST00000544471 T 0.02606 4.23 5.23 1.89 0.25635 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.376195 0.30210 N 0.010157 T 0.00967 0.0032 L 0.34521 1.04 0.09310 N 1 P 0.49307 0.922 B 0.43575 0.424 T 0.52771 -0.8531 10 0.42905 T 0.14 -16.8927 4.2667 0.10766 0.1623:0.5839:0.1579:0.0959 . 240 Q9P2B2 FPRP_HUMAN D 240;99 ENSP00000376899:A240D ENSP00000376899:A240D A + 2 0 PTGFRN 117289124 0.003000 0.15002 0.019000 0.16419 0.993000 0.82548 0.547000 0.23299 1.190000 0.43042 0.561000 0.74099 GCC NOVEL PTGFRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033271.1 2 60.184108 KEEP 0 0 0 200 7003 CC 1 1 0 + 133 60 3864 0 0 347.659074 223 60 7598 782 ENST00000393203.2 0.373596 1 NOTCH2 4853 __UNKNOWN__ __UNKNOWN__ 1 120565910 120565910 __UNKNOWN__ Intron SNP A A C rs200665684 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:120565910A>C ENST00000256646.2 - 2 375 NOTCH2_ENST00000602566.1_Intron NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 NA NA apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) aatacaaaaaattagccgggc 0.562 NA N, F, Mis marginal zone lymphoma, DLBCL Alagille Syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1p13-p11 4853 Notch homolog 2 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database ALGS1, ALGS2.Alagille-Watson syndrome AF315356 CCDS908.1 1p13-p11 2013-01-10 2010-06-24 ENSG00000134250 ENSG00000134250 4853 Ankyrin repeat domain containing 7882 protein-coding gene gene with protein product 600275 Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila) NA 7698746 Standard NM_024408 NM_001200001 NA Approved uc001eik.3 Q04721 OTTHUMG00000012177 ENST00000256646.2:c.155+6618T>G chr1.hg19:g.120565910A>C NA Q5T3X7|Q99734|Q9H240 hg19 CCDS908.1 0.02 -0.219161 AAAxTTA COVERED NOVEL NOTCH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033679.1 11 3.008229 KEEP 11 0 0 10 295 AA 0.99257 0.54878 0 - 3 49 103 2 1 7.749466 22 60 587 50 ENST00000256646.2 0.12 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121355250 121355250 __UNKNOWN__ IGR SNP T T G rs202163559|rs545819298 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121355250T>G NA NA RP11-344P13.1 (32928 upstream) : None (None downstream) NA NA NA acttgcagattctacaaaaag 0.388 NA .||| 280 0.0559105 0.0507 0.0403 5008 , , NA 59878 0.0506 NA 0.0915 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121355250T>G NA hg19 0.02 -0.306992 GATxCTA COVERED NOVEL 0 58 9.766091 KEEP 64 1 36 45 1453 TT 0.999869 0.800141 0 5 60 164 0 0 14.470224 11 49 335 173 0.3125 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121359093 121359093 __UNKNOWN__ IGR SNP T T G rs151005018|rs552975747 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121359093T>G NA NA RP11-344P13.1 (36771 upstream) : None (None downstream) NA NA NA gtagcttttatgagaagatat 0.438 NA .||| 1837 0.366813 0.2163 0.4006 5008 , , NA 337092 0.4048 NA 0.4076 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121359093T>G NA hg19 0.02 -0.061395 TTAxGAG UNCOVERED NOVEL 0 5 2.708138 KEEP 15 0 0 9 280 TT 0 0 0 2 21 69 0 0 6.393069 3 48 87 36 0.4 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121484070 121484070 __UNKNOWN__ IGR SNP G G T rs7366039|rs9701119|rs149562434 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121484070G>T NA NA RP11-344P13.1 (161748 upstream) : None (None downstream) NA NA NA ctagacagaagaattctcagt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121484070G>T NA hg19 0.02 11.162349 GAAxAAT COVERED NOVEL 0 282 18.939199 KEEP 111 11 339 182 6421 GG 1 1 0 21 60 591 0 0 34.689476 329 60 10979 1005 0.06 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121484151 121484151 __UNKNOWN__ IGR SNP C C T rs9729839 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121484151C>T NA NA RP11-344P13.1 (161829 upstream) : None (None downstream) NA NA NA acttgaaacactctttttctg 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121484151C>T NA hg19 0.02 10.659003 ACAxTCT COVERED NOVEL 0 245 21.164854 KEEP 126 9 287 171 5956 CC 1 1 0 12 52 349 1 1 19.032735 276 60 9054 875 0.041667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121484486 121484486 __UNKNOWN__ IGR SNP A A T rs9793960 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121484486A>T NA NA RP11-344P13.1 (162164 upstream) : None (None downstream) NA NA NA agcagatttgaaacactgttt 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121484486A>T NA hg19 0.02 16.34912 TTGxAAC COVERED NOVEL 0 106 48.150255 KEEP 36 13 398 300 9421 AA 1 1 0 20 60 557 1 1 32.350706 318 60 9259 1328 0.059172 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121484858 121484858 __UNKNOWN__ IGR SNP A A T rs28861668|rs67263138|rs74189320 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121484858A>T NA NA RP11-344P13.1 (162536 upstream) : None (None downstream) NA NA NA gcaagtgtagatttcaagcgc 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121484858A>T NA hg19 0.02 18.341736 TAGxTTT COVERED NOVEL 0 82 39.663791 KEEP 6 16 469 297 9256 AA 1 1 0 16 60 466 2 0 25.793099 348 60 9961 1340 0.043956 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485106 121485106 __UNKNOWN__ IGR SNP C C T rs4103092 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121485106C>T NA NA RP11-344P13.1 (162784 upstream) : None (None downstream) NA NA NA cagtaacttccttgtgttgtg 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121485106C>T NA hg19 0.02 22.184406 TTCxTTG COVERED NOVEL 0 198 156.95791 KEEP 78 27 829 813 28310 CC 1 1 0 27 60 693 0 0 34.042796 610 60 19960 1995 0.042386 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485140 121485140 __UNKNOWN__ IGR SNP C C T rs36174284|rs74222711|rs67228163 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121485140C>T NA NA RP11-344P13.1 (162818 upstream) : None (None downstream) NA NA NA cagagttgaacgatcctttac 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121485140C>T NA hg19 0.02 24.839976 GAAxGAT COVERED NOVEL 0 214 93.050738 KEEP 40 46 1408 804 27117 CC 1 1 0 32 60 875 0 0 48.265301 597 60 18971 1992 0.050874 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485323 121485323 __UNKNOWN__ IGR SNP T T A rs28971170 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121485323T>A NA NA RP11-344P13.1 (163001 upstream) : None (None downstream) NA NA NA tttcttttcatagagcagtta 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121485323T>A NA hg19 0.02 19.568147 TCAxAGA COVERED NOVEL 0 239 187.205133 KEEP 63 17 537 811 24700 TT 1 1 0 19 60 531 2 0 26.471279 527 60 14510 1994 0.034799 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485413 121485413 __UNKNOWN__ IGR SNP A A G rs28971075 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:121485413A>G NA NA RP11-344P13.1 (163091 upstream) : None (None downstream) NA NA NA atttcttcatattctgctaga 0.244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121485413A>G NA hg19 0.02 21.762175 CATxTTC COVERED NOVEL 0 208 27.164612 KEEP 43 17 601 300 8995 AA 1 1 0 18 60 581 2 0 36.368021 313 60 8555 1055 0.054381 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142535976 142535976 __UNKNOWN__ IGR SNP G G T rs113899450 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142535976G>T NA NA None (None upstream) : RP11-417J8.1 (17316 downstream) NA NA NA atggaatggagtggaatggaa 0.438 NA .||| 1060 0.211661 0.4017 0.1081 5008 , , NA 199746 0.1746 NA 0.0875 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142535976G>T NA hg19 0.02 -0.175447 GGAxTGG COVERED NOVEL 0 17 5.116711 KEEP 12 0 0 17 610 AG 0.994391 0.608972 0 2 60 59 0 0 6.852933 0 0 0 62 1 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142538187 142538187 __UNKNOWN__ IGR SNP G G A rs71525297 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142538187G>A NA NA None (None upstream) : RP11-417J8.1 (15105 downstream) NA NA NA agagtggactggagtggaatg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142538187G>A NA hg19 0.02 -0.184209 ACTxGAG COVERED NOVEL 0 11 3.009802 KEEP 6 0 0 10 352 GG 0.99257 0.420331 0 3 60 83 0 0 7.923652 3 60 102 38 0.5 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142567791 142567791 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142567791A>C NA NA RP11-417J8.1 (8621 upstream) : RP11-417J8.2 (1474 downstream) NA NA NA cccagctactagggaggctga 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142567791A>C NA hg19 0.02 -0.254323 ACTxGGG COVERED NOVEL 0 22 3.008954 KEEP 36 0 0 10 308 AA 0.99257 0.688515 0 3 40 91 0 0 6.495965 23 43 669 92 0.115385 0.693668 RP11-417J8.2 0 __UNKNOWN__ __UNKNOWN__ 1 142582219 142582219 __UNKNOWN__ lincRNA SNP C C A rs199748645 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142582219C>A ENST00000415979.2 - 0 167 NA NA NA gcgggtggatcacgaggtcag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000415979.2: chr1.hg19:g.142582219C>A NA hg19 0.02 -0.429768 GATxACG COVERED NOVEL RP11-417J8.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037256.2 17 3.310737 KEEP 25 0 0 11 389 CC 0.99254 0.947371 0 - 9 46 242 0 1 19.019707 33 60 1103 126 ENST00000415979.2 0.214286 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142598145 142598145 __UNKNOWN__ IGR SNP C C T rs200739558 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142598145C>T NA NA RP11-417J8.2 (9912 upstream) : RP11-417J8.3 (20977 downstream) NA NA NA tctgggaggccgaggtgggca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142598145C>T NA hg19 0.02 1.25183 GGCxGAG COVERED NOVEL 0 13 2.744416 KEEP 30 1 34 21 733 CC 0.99649 0.994395 0 5 27 140 0 0 8.748614 60 51 2031 179 0.076923 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142598157 142598157 __UNKNOWN__ IGR SNP A A T rs78625490 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142598157A>T NA NA RP11-417J8.2 (9924 upstream) : RP11-417J8.3 (20965 downstream) NA NA NA aggtgggcagatcacaaggtc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142598157A>T NA hg19 0.02 1.216875 CAGxTCA COVERED NOVEL 0 16 2.943806 KEEP 30 1 35 22 686 AA 0.999366 0.99836 0 5 36 149 0 0 9.471744 65 51 1933 194 0.071429 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142601317 142601317 __UNKNOWN__ IGR SNP G G T rs558407022 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142601317G>T NA NA RP11-417J8.2 (13084 upstream) : RP11-417J8.3 (17805 downstream) NA NA NA tgctcaggctggtctcatgat 0.413 NA .||| 3 0.000599042 0.0023 0 5008 , , NA 33605 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142601317G>T NA hg19 0.02 -0.263166 GCTxGTC UNCOVERED NOVEL 0 15 3.009839 KEEP 30 0 0 10 353 GG 0 0 0 3 29 87 0 0 6.692136 14 47 468 100 0.176471 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142601335 142601335 __UNKNOWN__ IGR SNP C C A rs77775835 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142601335C>A NA NA RP11-417J8.2 (13102 upstream) : RP11-417J8.3 (17787 downstream) NA NA NA gatactcctgccttggcctcc 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142601335C>A NA hg19 0.02 -0.20176 CTGxCTT UNCOVERED NOVEL 0 21 2.407983 KEEP 60 0 0 8 293 CT 0 0 0 6 47 183 1 0 16.016257 13 60 444 147 0.315789 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142602972 142602972 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142602972C>A NA NA RP11-417J8.2 (14739 upstream) : RP11-417J8.3 (16150 downstream) NA NA NA taattccagccctttgggagg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142602972C>A NA hg19 0.02 1.397257 AGCxCTT COVERED NOVEL 0 23 5.417534 KEEP 10 0 0 18 623 CC 0.999366 0.998477 0 4 49 121 0 0 7.725205 53 52 1765 146 0.070175 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142603080 142603080 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142603080G>A NA NA RP11-417J8.2 (14847 upstream) : RP11-417J8.3 (16042 downstream) NA NA NA ctagctaggtgtggtagcaag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142603080G>A NA hg19 0.02 -0.359638 GGTxTGG COVERED NOVEL 0 20 3.607144 KEEP 6 0 0 12 406 GG 0.993072 0.882717 0 4 48 106 0 0 7.738435 21 60 702 71 0.16 0.888875 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142646880 142646880 __UNKNOWN__ lincRNA SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142646880T>A ENST00000610091.1 - 0 3560 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA gccaagatagtgccactgcac 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142646880T>A NA hg19 0.02 1.464872 TAGxGCC COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 15 3.904804 KEEP 13 0 0 13 383 TT 0.993072 0.981099 0 - 4 41 125 0 0 8.632701 39 60 1170 119 ENST00000610091.1 0.093023 0.987943 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142646935 142646935 __UNKNOWN__ lincRNA SNP A A T rs112724672 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142646935A>T ENST00000610091.1 - 0 3560 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA aaaaaataaaaaTTGTctggg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142646935A>T NA hg19 0.02 -0.438311 AAAxATT COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 8 3.611023 KEEP 6 0 0 12 378 AA 0.993634 0.953748 0 - 6 60 164 0 0 12.846613 23 60 624 84 ENST00000610091.1 0.206897 0.959859 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142649340 142649340 __UNKNOWN__ lincRNA SNP G G T rs7546085 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142649340G>T ENST00000610091.1 - 0 3560 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA taatttttttgtgtgttttta 0.517 NA G||| 2287 0.456669 0.4092 0.4769 5008 , , NA 34649 0.4742 NA 0.4901 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142649340G>T NA hg19 0.02 -0.166647 TTTxTGT COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 4 2.407363 KEEP 2 0 0 8 265 GG 0.99257 0.351317 0 - 6 60 173 2 0 15.776921 9 60 296 35 ENST00000610091.1 0.4 0.353947 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142659874 142659874 __UNKNOWN__ lincRNA SNP G G C rs79409360 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142659874G>C ENST00000610091.1 - 0 3560 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA CTGGGTTTCAGTTGAGCACAA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142659874G>C NA hg19 0.02 -0.254408 TCAxTTG COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 2 5.116946 KEEP 7 0 0 17 626 GG 0.993634 0.664267 0 - 3 42 98 0 0 7.092257 25 60 855 73 ENST00000610091.1 0.107143 0.668523 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142659960 142659960 __UNKNOWN__ lincRNA SNP G G A rs201809612 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142659960G>A ENST00000610091.1 - 0 3560 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA GAAAGTACCCGTGAACTGGAA 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142659960G>A NA hg19 0.02 -0.166652 CCCxTGA UNCOVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 0 2.708676 KEEP 2 0 0 9 305 GG 0 0 0 - 3 29 87 0 0 6.692197 14 40 449 28 ENST00000610091.1 0.176471 0.353947 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142659961 142659961 __UNKNOWN__ lincRNA SNP T T C rs200093603 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142659961T>C ENST00000610091.1 - 0 3560 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA AAAGTACCCGTGAACTGGAAA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142659961T>C NA hg19 0.02 -0.157845 CCGxGAA UNCOVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 0 2.406678 KEEP 2 0 0 8 241 TT 0 0 0 - 3 29 94 0 0 7.479407 13 40 371 26 ENST00000610091.1 0.1875 0.322807 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142697198 142697198 __UNKNOWN__ lincRNA SNP G G C rs4615857 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142697198G>C ENST00000610091.1 - 0 3506 NA NA NA ggaggtggaggttgcagtgag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142697198G>C NA hg19 0.02 1.93251 GAGxTTG COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 33 4.213817 KEEP 61 0 0 14 498 GG 0.99257 0.963607 0 - 5 37 162 0 0 11.671773 42 54 1362 171 ENST00000610091.1 0.106383 0.97082 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142697253 142697253 __UNKNOWN__ lincRNA SNP C C T rs377191600 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142697253C>T ENST00000610091.1 - 0 3506 NA NA NA cagagtgagacactgcctcaa 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142697253C>T NA hg19 0.02 1.107649 AGAxACT COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 34 4.815942 KEEP 44 0 0 16 585 CC 0.993072 0.98819 0 - 5 37 133 0 0 8.303891 53 54 1747 171 ENST00000610091.1 0.086207 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142800984 142800984 __UNKNOWN__ IGR SNP G G A rs367984239 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142800984G>A NA NA RP11-417J8.6 (71017 upstream) : RP11-423O2.5 (2239 downstream) NA NA NA cagctaccatgcccagctaat 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142800984G>A NA hg19 0.02 -0.210527 CATxCCC UNCOVERED NOVEL 0 10 2.408009 KEEP 4 0 0 8 297 GG 0 0 0 3 44 90 0 0 6.565479 20 49 657 43 0.130435 0.522161 RP11-423O2.5 0 __UNKNOWN__ __UNKNOWN__ 1 142803312 142803312 __UNKNOWN__ lincRNA SNP G G C rs2039402 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142803312G>C ENST00000423385.1 - 0 1653 NA NA NA caaACAGGATGTAAAGCATAC 0.378 NA .||| 2408 0.480831 0.4947 0.4914 5008 , , NA 83426 0.4762 NA 0.4652 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423385.1: chr1.hg19:g.142803312G>C NA hg19 0.02 -0.403499 GATxTAA COVERED NOVEL RP11-423O2.5-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000193203.1 5 2.407636 KEEP 0 0 0 8 276 GG 0.99257 0.927549 0 - 9 60 317 0 0 26.518229 33 60 1115 82 ENST00000423385.1 0.214286 0.934492 RP11-423O2.5 0 __UNKNOWN__ __UNKNOWN__ 1 142807289 142807289 __UNKNOWN__ lincRNA SNP A A T rs71223751 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142807289A>T ENST00000423385.1 - 0 88 NA NA NA ctgtaatcccagcacttttgg 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423385.1: chr1.hg19:g.142807289A>T NA hg19 0.02 2.952621 CCCxGCA COVERED NOVEL RP11-423O2.5-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000193203.1 37 5.351348 KEEP 32 1 32 29 936 AA 0.999909 0.999909 0 - 14 60 435 2 0 31.635019 102 60 3096 292 ENST00000423385.1 0.12069 1 RP11-423O2.5 0 __UNKNOWN__ __UNKNOWN__ 1 142810437 142810437 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142810437A>G ENST00000423385.1 - 0 88 NA NA NA tgggagcccaaggtgggcggg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423385.1: chr1.hg19:g.142810437A>G NA hg19 0.02 1.786609 CCAxGGT COVERED NOVEL RP11-423O2.5-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000193203.1 32 6.319846 KEEP 17 0 0 21 686 AA 0.999859 0.999078 0 - 8 60 272 2 0 20.72654 53 58 1577 168 ENST00000423385.1 0.131148 0.999218 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142817623 142817623 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142817623C>T NA NA RP11-423O2.5 (1619 upstream) : RP11-423O2.7 (133361 downstream) NA NA NA GGGTAgggcacggtggctcat 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142817623C>T NA hg19 0.02 1.201689 GCAxGGT COVERED NOVEL 0 30 2.743768 KEEP 26 1 31 20 703 CC 0.997832 0.997667 0 6 25 175 1 0 11.153601 73 60 2337 170 0.075949 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142817778 142817778 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142817778T>C NA NA RP11-423O2.5 (1774 upstream) : RP11-423O2.7 (133206 downstream) NA NA NA acctgtaatctcagctactca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142817778T>C NA hg19 0.02 -0.263136 ATCxCAG COVERED NOVEL 0 12 3.611193 KEEP 2 0 0 12 382 TT 0.993634 0.689252 0 3 24 98 1 0 7.427144 19 60 579 53 0.136364 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142832001 142832001 __UNKNOWN__ IGR SNP C C T rs140090962 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142832001C>T NA NA RP11-423O2.5 (15997 upstream) : RP11-423O2.7 (118983 downstream) NA NA NA cacctgtagtcgcagctactt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142832001C>T NA hg19 0.02 1.517429 AGTxGCA COVERED NOVEL 0 18 3.912298 KEEP 8 0 0 13 444 CC 0.992708 0.966863 0 6 60 176 0 0 13.053747 35 60 1135 94 0.146341 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142839335 142839335 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142839335A>G NA NA RP11-423O2.5 (23331 upstream) : RP11-423O2.7 (111649 downstream) NA NA NA cctggcctcaagtgatctttc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142839335A>G NA hg19 0.02 1.569987 TCAxGTG UNCOVERED NOVEL 0 36 3.610987 KEEP 37 0 0 12 389 AA 0 0 0 5 54 153 0 0 9.657499 74 54 2206 188 0.063291 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142839392 142839392 __UNKNOWN__ IGR SNP G G A rs144321327 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142839392G>A NA NA RP11-423O2.5 (23388 upstream) : RP11-423O2.7 (111592 downstream) NA NA NA gagccaccatgccTAATATAG 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142839392G>A NA hg19 0.02 -0.403462 CATxCCT UNCOVERED NOVEL 0 19 2.708699 KEEP 21 0 0 9 313 GG 0 0 0 5 40 131 0 0 8.782964 38 48 1214 79 0.116279 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142843497 142843497 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142843497G>A NA NA RP11-423O2.5 (27493 upstream) : RP11-423O2.7 (107487 downstream) NA NA NA tgggtgacagggcaagactcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142843497G>A NA hg19 0.02 -0.28072 CAGxGCA UNCOVERED NOVEL 0 25 2.70879 KEEP 30 0 0 9 316 GG 0 0 0 5 51 152 0 1 11.797453 24 54 834 95 0.172414 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142862024 142862024 __UNKNOWN__ IGR SNP C C G rs61816133 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142862024C>G NA NA RP11-423O2.5 (46020 upstream) : RP11-423O2.7 (88960 downstream) NA NA NA cccaggttcacaccattctcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142862024C>G NA hg19 0.02 -0.236864 TCAxACC COVERED NOVEL 0 15 3.912798 KEEP 17 0 0 13 463 CC 0.99254 0.607839 0 6 49 208 0 0 18.206604 15 50 510 66 0.285714 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142894422 142894422 __UNKNOWN__ IGR SNP C C T rs145777743 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142894422C>T NA NA RP11-423O2.5 (78418 upstream) : RP11-423O2.7 (56562 downstream) NA NA NA aggaaaatcacttgaacctgg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142894422C>T NA hg19 0.02 1.61937 TCAxTTG COVERED NOVEL 0 30 4.449537 KEEP 46 1 32 26 919 CC 0.999863 0.993566 0 6 27 181 1 0 13.29227 39 51 1325 168 0.133333 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142894435 142894435 __UNKNOWN__ IGR SNP G G A rs138919229 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142894435G>A NA NA RP11-423O2.5 (78431 upstream) : RP11-423O2.7 (56549 downstream) NA NA NA gaacctgggaggcagaggttg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142894435G>A NA hg19 0.02 1.289409 GGAxGCA COVERED NOVEL 0 30 4.851617 KEEP 40 1 34 28 999 GG 0.999879 0.999097 0 6 49 180 0 0 12.490752 52 60 1745 182 0.103448 0.999218 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142895698 142895698 __UNKNOWN__ IGR SNP C C A rs145678025 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142895698C>A NA NA RP11-423O2.5 (79694 upstream) : RP11-423O2.7 (55286 downstream) NA NA NA tagtacagagcaattataaac 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142895698C>A NA hg19 0.02 1.616636 GAGxAAT COVERED NOVEL 0 8 3.009836 KEEP 3 0 0 10 359 CC 0.99254 0.9667 0 8 49 251 0 0 19.298217 43 60 1447 91 0.156863 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142911182 142911182 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142911182G>A NA NA RP11-423O2.5 (95178 upstream) : RP11-423O2.7 (39802 downstream) NA NA NA tagtagagacggggtttctcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142911182G>A NA hg19 0.02 1.546453 GACxGGG COVERED NOVEL 0 22 3.243269 KEEP 41 1 29 21 668 GG 0.995343 0.986349 0 5 49 144 0 0 9.476206 51 50 1645 152 0.089286 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142917430 142917430 __UNKNOWN__ IGR SNP C C T rs148454296 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142917430C>T NA NA RP11-423O2.5 (101426 upstream) : RP11-423O2.7 (33554 downstream) NA NA NA tgatgaagtccggcagagtca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142917430C>T NA hg19 0.02 -0.412222 GTCxGGC COVERED NOVEL 0 3 7.52323 KEEP 44 0 0 25 854 CC 0.995343 0.937356 0 4 40 113 0 0 7.613404 35 45 1112 119 0.102564 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142917512 142917512 __UNKNOWN__ IGR SNP A A T rs140057021 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142917512A>T NA NA RP11-423O2.5 (101508 upstream) : RP11-423O2.7 (33472 downstream) NA NA NA gagtctgcaaagtccccaagc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142917512A>T NA hg19 0.02 0.862184 CAAxGTC COVERED NOVEL 0 15 4.383126 KEEP 289 5 146 66 2140 AA 0.999998 0.999917 0 6 25 154 0 0 9.319408 66 40 1922 594 0.083333 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142917549 142917549 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142917549G>C NA NA RP11-423O2.5 (101545 upstream) : RP11-423O2.7 (33435 downstream) NA NA NA atttgttggtgctcaaacaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142917549G>C NA hg19 0.02 3.231692 GGTxCTC COVERED NOVEL 0 23 14.721132 KEEP 310 2 75 75 2680 GG 1 1 0 8 33 260 2 0 17.379548 102 50 3407 703 0.072727 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142942337 142942337 __UNKNOWN__ IGR SNP C C T rs139924829 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142942337C>T NA NA RP11-423O2.5 (126333 upstream) : RP11-423O2.7 (8647 downstream) NA NA NA cctcagcctaccaaagtgctg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142942337C>T NA hg19 0.02 -0.105265 CTAxCAA UNCOVERED NOVEL 0 11 2.708897 KEEP 15 0 0 9 325 CC 0 0 0 3 47 91 0 0 7.732223 8 49 264 43 0.272727 0.139832 RP11-423O2.7 0 __UNKNOWN__ __UNKNOWN__ 1 142953634 142953634 __UNKNOWN__ lincRNA SNP C C A rs201763510 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:142953634C>A ENST00000424640.2 - 0 203 NA NA NA AAAACAGAATCAggccaagca 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424640.2: chr1.hg19:g.142953634C>A NA hg19 0.02 -0.342091 AATxAGG COVERED NOVEL RP11-423O2.7-001 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000193207.2 19 3.310443 KEEP 5 0 0 11 374 CC 0.992708 0.859432 0 - 4 60 118 0 0 8.258336 32 60 1034 64 ENST00000424640.2 0.111111 0.865745 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143119078 143119078 __UNKNOWN__ lincRNA SNP T T C rs201036514 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143119078T>C ENST00000412204.2 - 0 5409 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA TCCAGTGTCCTCTGGGTGTTT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143119078T>C NA hg19 0.02 13.419736 TCCxCTG COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 43 18.417177 KEEP 267 8 292 163 5260 TT 1 1 0 - 43 46 1457 1 0 108.549937 326 48 10034 1211 ENST00000412204.2 0.116531 1 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143139406 143139406 __UNKNOWN__ lincRNA SNP C C A rs368377379 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143139406C>A ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA ctcacttgagccccctgagta 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143139406C>A NA hg19 0.02 -0.298217 GAGxCCC COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 21 3.911714 KEEP 25 0 0 13 447 CC 0.99254 0.775233 0 - 6 60 166 0 0 12.945531 24 60 791 90 ENST00000412204.2 0.2 0.78106 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143143420 143143420 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143143420A>G ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA tcagcctcccaagtagctggg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143143420A>G NA hg19 0.02 -0.315639 CCCxAGT UNCOVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 15 2.407162 KEEP 14 0 0 8 245 AA 0 0 0 - 3 40 97 0 0 6.727601 31 60 880 78 ENST00000412204.2 0.088235 0.818465 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143149220 143149220 __UNKNOWN__ lincRNA SNP G G C rs74816132 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143149220G>C ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA tagcactttgggaggccgagg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143149220G>C NA hg19 0.02 -0.157914 TTGxGAG UNCOVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 14 2.407768 KEEP 26 0 0 8 278 GG 0 0 0 - 5 60 171 0 0 15.522741 9 60 318 69 ENST00000412204.2 0.357143 0.322807 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143149284 143149284 __UNKNOWN__ lincRNA SNP A A G rs77691393 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143149284A>G ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA aacgtggagaaaccccatctc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143149284A>G NA hg19 0.02 -0.175361 AGAxACC COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 9 2.406331 KEEP 7 0 0 8 234 AA 0.99257 0.384528 0 - 5 60 165 0 0 14.414633 12 60 318 43 ENST00000412204.2 0.294118 0.387407 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143185378 143185378 __UNKNOWN__ lincRNA SNP A A G rs1631266 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143185378A>G ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA GATCCACTTCACCATAGATGC 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143185378A>G NA hg19 0.02 -0.175397 TTCxCCA UNCOVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 0 2.707778 KEEP 9 0 0 9 276 AA 0 0 0 - 3 40 96 0 0 7.361178 17 40 495 33 ENST00000412204.2 0.15 0.387407 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143185394 143185394 __UNKNOWN__ lincRNA SNP A A T rs202026799 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143185394A>T ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA GATGCCTTCCACACTGTCAGT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143185394A>T NA hg19 0.02 -0.210503 TCCxCAC UNCOVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 0 2.407333 KEEP 12 0 0 8 251 AA 0 0 0 - 3 40 88 0 0 6.306763 21 40 643 49 ENST00000412204.2 0.125 0.522161 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143185486 143185486 __UNKNOWN__ lincRNA SNP A A G rs374199073 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143185486A>G ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA CCAGGCCAACATTCTGGACAT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143185486A>G NA hg19 0.02 -0.236717 AACxTTC UNCOVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 0 3.006467 KEEP 19 0 0 10 293 AA 0 0 0 - 4 40 122 0 0 9.192676 23 40 609 62 ENST00000412204.2 0.148148 0.612407 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143188398 143188398 __UNKNOWN__ lincRNA SNP G G C rs61784869 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143188398G>C ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA CCGATCTAAAGACACAACACA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143188398G>C NA hg19 0.02 -0.140361 AAAxACA COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 0 2.708617 KEEP 0 0 0 9 310 GG 0.99254 0.259018 0 - 4 46 134 0 0 11.401246 12 49 406 26 ENST00000412204.2 0.25 0.260965 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143188600 143188600 __UNKNOWN__ lincRNA SNP G G T rs61784871 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143188600G>T ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA CTCCACCTCTgcttctaaaaa 0.478 NA .||| 142 0.0283546 0.0514 0.0187 5008 , , NA 26371 0.0099 NA 0.0109 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143188600G>T NA hg19 0.02 -0.122772 TCTxCTT COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 1 3.009539 KEEP 8 0 0 10 336 GG 0.99254 0.194847 0 - 6 46 161 0 0 14.806983 8 45 266 34 ENST00000412204.2 0.428571 0.196312 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143189088 143189088 __UNKNOWN__ lincRNA SNP C C A rs557828104 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143189088C>A ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.3_ENST00000425124.1_lincRNA NA NA NA CTTCGATGACCTTTACTAACC 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143189088C>A NA hg19 0.02 -0.34208 GACxTTT COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 3 6.300234 KEEP 14 0 0 21 708 CC 0.999869 0.865632 0 - 8 23 222 1 0 17.425266 31 46 1045 103 ENST00000412204.2 0.205128 0.865745 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143193454 143193454 __UNKNOWN__ lincRNA SNP G G A rs372035963 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143193454G>A ENST00000412204.2 - 0 2449 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA GGCATGggccgggtgcggtgg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143193454G>A NA hg19 0.02 1.350856 GCCxGGT COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 18 2.641178 KEEP 34 1 29 19 610 GG 0.995343 0.993251 0 - 7 47 209 1 0 14.505065 60 48 1849 157 ENST00000412204.2 0.104478 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143237000 143237000 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143237000A>G NA NA RP11-782C8.1 (3583 upstream) : RP11-435B5.3 (110969 downstream) NA NA NA TTCATAGCACACAGACACTAA 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143237000A>G NA hg19 0.02 5.355569 CACxCAG COVERED NOVEL 0 3 6.190988 KEEP 9 2 73 46 1476 AA 1 1 0 9 46 299 0 0 19.392427 142 47 4256 349 0.059603 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143264753 143264753 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143264753T>G NA NA RP11-782C8.1 (31336 upstream) : RP11-435B5.3 (83216 downstream) NA NA NA gaggatcacgtgagcccagaa 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143264753T>G NA hg19 0.02 3.763209 ACGxGAG COVERED NOVEL 0 45 7.219645 KEEP 48 0 0 24 721 TT 0.999863 0.999862 0 7 32 229 0 0 14.794728 108 50 3178 281 0.06087 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143264827 143264827 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143264827C>G NA NA RP11-782C8.1 (31410 upstream) : RP11-435B5.3 (83142 downstream) NA NA NA agaacatagccagatatgctg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143264827C>G NA hg19 0.02 3.449805 AGCxAGA COVERED NOVEL 0 50 9.028862 KEEP 90 0 0 30 1053 CC 0.999863 0.99985 0 7 25 222 0 0 14.66286 89 48 2998 293 0.072917 0.999987 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143280430 143280430 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143280430T>A NA NA RP11-782C8.1 (47013 upstream) : RP11-435B5.3 (67539 downstream) NA NA NA gatccctgggttcctggaact 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143280430T>A NA hg19 0.02 1.458838 GGGxTCC COVERED NOVEL 0 18 6.748453 KEEP 47 1 33 34 1054 TT 0.999863 0.997416 0 9 44 258 0 0 18.881764 54 45 1602 204 0.142857 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143281828 143281828 __UNKNOWN__ IGR SNP G G A rs555881894 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143281828G>A NA NA RP11-782C8.1 (48411 upstream) : RP11-435B5.3 (66141 downstream) NA NA NA cctaggtgatgggttgacagg 0.483 NA .||| 1 0.000199681 0 0 5008 , , NA 56280 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143281828G>A NA hg19 0.02 5.490965 GATxGGT COVERED NOVEL 0 99 17.891193 KEEP 276 1 30 70 2447 GG 1 1 0 9 46 264 0 0 14.416736 211 50 6961 781 0.040909 1 RP11-435B5.5 0 __UNKNOWN__ __UNKNOWN__ 1 143392677 143392677 __UNKNOWN__ lincRNA SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143392677A>C ENST00000428624.1 + 0 2279 RP11-435B5.4_ENST00000423249.1_lincRNA NA NA NA ACATACACTCATAGAAAATGA 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000428624.1: chr1.hg19:g.143392677A>C NA hg19 0.02 -0.368232 CTCxTAG COVERED NOVEL RP11-435B5.5-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037971.1 0 2.943698 KEEP 31 1 38 23 683 AA 0.999859 0.899187 0 + 4 22 136 0 0 9.864177 36 40 970 111 ENST00000428624.1 0.1 0.899314 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143426583 143426583 __UNKNOWN__ lincRNA SNP C C A rs10465921 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143426583C>A ENST00000423249.1 - 0 59 NA NA NA ctcctagccccccaccctgac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143426583C>A NA hg19 0.02 -0.271921 CCCxCCA COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 6 3.009746 KEEP 4 0 0 10 347 CC 0.99257 0.711986 0 - 9 48 272 0 0 24.209764 17 50 574 63 ENST00000423249.1 0.346154 0.717315 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143426596 143426596 __UNKNOWN__ lincRNA SNP G G A rs6676746 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143426596G>A ENST00000423249.1 - 0 59 NA NA NA accctgacaggccctggtgtg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143426596G>A NA hg19 0.02 -0.35963 CAGxCCC COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 6 3.611919 KEEP 4 0 0 12 439 GG 0.992708 0.882393 0 - 4 50 118 0 0 8.258603 32 51 1072 83 ENST00000423249.1 0.111111 0.888875 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143441902 143441902 __UNKNOWN__ lincRNA SNP G G A rs7412315 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143441902G>A ENST00000423249.1 - 0 59 NA NA NA gtttctccacgttggtcagac 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143441902G>A NA hg19 0.02 -0.385937 CACxTTG COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 16 4.213181 KEEP 10 0 0 14 465 GG 0.993072 0.91181 0 - 8 52 246 0 0 19.726153 32 60 997 77 ENST00000423249.1 0.2 0.918171 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143445636 143445636 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143445636A>G ENST00000423249.1 - 0 59 NA NA NA ttacaggtgtaagccactgca 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143445636A>G NA hg19 0.02 -0.228028 TGTxAGC UNCOVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 17 3.91062 KEEP 52 0 0 13 388 AA 0 0 0 - 4 60 136 0 0 10.979652 18 50 510 123 ENST00000423249.1 0.181818 0.58293 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143447984 143447984 __UNKNOWN__ lincRNA SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143447984T>G ENST00000423249.1 - 0 59 NA NA NA ggcgggcagatcacctgaggt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143447984T>G NA hg19 0.02 1.743283 AGAxCAC COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 18 4.513645 KEEP 13 0 0 15 474 TT 0.995343 0.994967 0 - 5 49 169 1 0 12.01274 50 60 1436 169 ENST00000423249.1 0.090909 0.999622 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143451412 143451412 __UNKNOWN__ lincRNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143451412C>T ENST00000423249.1 - 0 59 NA NA NA atccacctcccttggcctccc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143451412C>T NA hg19 0.02 1.470333 TCCxTTG COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 25 6.019223 KEEP 32 0 0 20 729 CC 0.99986 0.999267 0 - 8 60 247 0 0 17.322087 70 60 2416 201 ENST00000423249.1 0.102564 0.999407 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143451450 143451450 __UNKNOWN__ lincRNA SNP A A T rs112189225 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143451450A>T ENST00000423249.1 - 0 59 NA NA NA agcataagccaccatgcccag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143451450A>T NA hg19 0.02 1.39755 GCCxCCA COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 20 5.708781 KEEP 11 0 0 19 536 AA 0.999366 0.998477 0 - 9 60 277 1 0 20.050038 66 60 1847 148 ENST00000423249.1 0.12 0.99911 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143460255 143460255 __UNKNOWN__ lincRNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143460255C>T ENST00000423249.1 - 0 59 NA NA NA ggctggagtgcaatggtgtga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143460255C>T NA hg19 0.02 -0.201757 GTGxAAT COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 15 3.611958 KEEP 20 0 0 12 440 CC 0.99257 0.4869 0 - 5 57 143 0 0 11.929977 14 60 485 68 ENST00000423249.1 0.263158 0.490544 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143460331 143460331 __UNKNOWN__ lincRNA SNP G G C rs370501777 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143460331G>C ENST00000423249.1 - 0 59 NA NA NA ctcccaagtagctgggattac 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143460331G>C NA hg19 0.02 -0.359661 GTAxCTG UNCOVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 9 2.708347 KEEP 12 0 0 9 313 GG 0 0 0 - 5 60 161 0 0 12.063948 33 60 1129 78 ENST00000423249.1 0.131579 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143468224 143468224 __UNKNOWN__ IGR SNP C C A rs201020905 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143468224C>A NA NA RP11-435B5.4 (2786 upstream) : RP11-435B5.6 (30119 downstream) NA NA NA cctcctaggcctcccaaagtg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143468224C>A NA hg19 0.02 1.265997 GGCxTCC COVERED NOVEL 0 23 7.223404 KEEP 31 0 0 24 852 CC 0.99986 0.999767 0 5 47 154 0 0 9.617049 77 51 2616 212 0.060976 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143468317 143468317 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143468317G>A NA NA RP11-435B5.4 (2879 upstream) : RP11-435B5.6 (30026 downstream) NA NA NA AAAAAATCATGTCTCTATTTT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143468317G>A NA hg19 0.02 -0.438587 CATxTCT COVERED NOVEL 0 18 3.310664 KEEP 11 0 0 11 378 GG 0.992708 0.952859 0 4 47 108 0 0 6.817038 42 49 1398 85 0.086957 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143484801 143484801 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143484801A>T NA NA RP11-435B5.4 (19363 upstream) : RP11-435B5.6 (13542 downstream) NA NA NA cacctggctaattttttgtat 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143484801A>T NA hg19 0.02 -0.245486 CTAxTTT COVERED NOVEL 0 14 5.716479 KEEP 34 0 0 19 602 AA 0.99254 0.636563 0 3 27 92 0 0 6.827591 19 50 559 95 0.136364 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143486335 143486335 __UNKNOWN__ IGR SNP T T G rs375824700 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143486335T>G NA NA RP11-435B5.4 (20897 upstream) : RP11-435B5.6 (12008 downstream) NA NA NA aagtgtgcactagaggtcagg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143486335T>G NA hg19 0.02 -0.324436 CACxAGA COVERED NOVEL 0 11 3.610666 KEEP 8 0 0 12 367 TT 0.99254 0.829482 0 4 49 138 0 0 10.417422 29 50 818 73 0.121212 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143486361 143486361 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143486361G>C NA NA RP11-435B5.4 (20923 upstream) : RP11-435B5.6 (11982 downstream) NA NA NA tggctcatgcgtgtaatccca 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143486361G>C NA hg19 0.02 2.114312 TGCxTGT COVERED NOVEL 0 20 2.243404 KEEP 14 1 36 20 690 GG 0.999859 0.979388 0 4 47 142 0 0 10.057298 46 51 1469 122 0.08 0.979526 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143486695 143486695 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143486695G>C NA NA RP11-435B5.4 (21257 upstream) : RP11-435B5.6 (11648 downstream) NA NA NA aatcccagcagtttgggaggc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143486695G>C NA hg19 0.02 -0.386008 GCAxTTT COVERED NOVEL 0 16 3.912877 KEEP 6 0 0 13 467 GG 0.994391 0.91302 0 5 60 166 0 0 12.561191 33 60 1168 93 0.131579 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143486738 143486738 __UNKNOWN__ IGR SNP T T A rs71214217|rs201410927 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143486738T>A NA NA RP11-435B5.4 (21300 upstream) : RP11-435B5.6 (11605 downstream) NA NA NA atcaggagtttgagaccagcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143486738T>A NA hg19 0.02 -0.342043 GTTxGAG COVERED NOVEL 0 7 2.406968 KEEP 4 0 0 8 245 TT 0.99257 0.882271 0 7 60 207 0 1 16.741165 25 50 740 76 0.21875 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143486743 143486743 __UNKNOWN__ IGR SNP C C G rs202146246|rs71214217 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143486743C>G NA NA RP11-435B5.4 (21305 upstream) : RP11-435B5.6 (11600 downstream) NA NA NA gagtttgagaccagcctggcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143486743C>G NA hg19 0.02 -0.333356 AGAxCAG COVERED NOVEL 0 7 2.407816 KEEP 4 0 0 8 280 CC 0.99257 0.871187 0 6 60 207 0 0 17.043793 24 50 815 73 0.2 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143487739 143487739 __UNKNOWN__ IGR SNP G G A rs1712200 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143487739G>A NA NA RP11-435B5.4 (22301 upstream) : RP11-435B5.6 (10604 downstream) NA NA NA ttgagatggagtttcactctt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143487739G>A NA hg19 0.02 1.214558 GGAxTTT COVERED NOVEL 0 26 5.115616 KEEP 14 0 0 17 602 GG 0.994391 0.989502 0 8 60 234 0 0 16.928762 53 60 1815 125 0.131148 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143494143 143494143 __UNKNOWN__ IGR SNP C C A rs9440749 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143494143C>A NA NA RP11-435B5.4 (28705 upstream) : RP11-435B5.6 (4200 downstream) NA NA NA ggtgctcaaacaaacaggtgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143494143C>A NA hg19 0.02 2.923398 AAAxAAA COVERED NOVEL 0 15 2.78092 KEEP 10 2 68 33 1206 CC 0.999999 0.999998 0 10 55 292 0 1 18.92796 113 60 3865 254 0.081301 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143536632 143536632 __UNKNOWN__ IGR SNP T T A rs6604336 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143536632T>A NA NA RP11-435B5.7 (3360 upstream) : RNVU1-1 (110381 downstream) NA NA NA CTACAGATATTGATTGGTGGT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143536632T>A NA hg19 0.02 -0.192782 TATxGAT UNCOVERED NOVEL 0 6 2.405808 KEEP 5 0 0 8 227 TT 0 0 0 5 60 137 0 0 11.6148 12 60 301 37 0.294118 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143536757 143536757 __UNKNOWN__ IGR SNP A A G rs6669756 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143536757A>G NA NA RP11-435B5.7 (3485 upstream) : RNVU1-1 (110256 downstream) NA NA NA caggcaaatcacaaggtcaac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143536757A>G NA hg19 0.02 1.92702 ATCxCAA COVERED NOVEL 0 24 7.221021 KEEP 16 0 0 24 736 AA 0.999869 0.992796 0 4 60 134 0 0 9.370459 43 60 1236 135 0.085106 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143536942 143536942 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143536942T>C NA NA RP11-435B5.7 (3670 upstream) : RNVU1-1 (110071 downstream) NA NA NA tgtgccactgtactccagcct 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143536942T>C NA hg19 0.02 3.751859 CTGxACT COVERED NOVEL 0 40 5.415976 KEEP 2 0 0 18 547 TT 0.999366 0.999364 0 6 60 196 0 0 12.840614 86 60 2360 181 0.065217 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143744508 143744508 __UNKNOWN__ IGR SNP G G T rs61823126 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143744508G>T NA NA RP6-206I17.1 (98 upstream) : PPIAL4G (22635 downstream) NA NA NA TTCCAGATGTGACCGCCCAGC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143744508G>T NA hg19 0.02 -0.271877 TGTxACC COVERED NOVEL 0 1 4.5148 KEEP 2 0 0 15 540 GG 0.99649 0.714798 0 4 60 100 0 0 6.801416 26 60 852 69 0.133333 0.717315 SRGAP2B 647135 __UNKNOWN__ __UNKNOWN__ 1 143950282 143950282 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:143950282A>G ENST00000467933.1 + 0 915 P0DMP2 SRG2B_HUMAN SLIT-ROBO Rho GTPase activating protein 2B NA NA nervous system development (GO:0007399) NA ggatcacgagatcaggagttc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA CCDS72854.1 1q21.1 2014-07-10 2013-02-13 2012-05-08 ENSG00000196369 ENSG00000196369 647135 35237 protein-coding gene gene with protein product 614703 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2, SLIT-ROBO Rho GTPase activating protein 2B (pseudogene) SRGAP2P2 NA 22559943, 22559944 Standard NM_001271870 NM_001271870 NA Approved uc010oxm.1 P0DMP2 OTTHUMG00000041442 ENST00000467933.1: chr1.hg19:g.143950282A>G NA hg19 0.02 -0.342014 GAGxTCA COVERED NOVEL SRGAP2B-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352915.1 10 4.211564 KEEP 9 0 0 14 416 AA 0.993634 0.883216 0 + 4 47 127 1 0 9.107773 33 52 951 90 ENST00000467933.1 0.108108 0.888875 SRGAP2B 647135 __UNKNOWN__ __UNKNOWN__ 1 144037778 144037778 __UNKNOWN__ RNA SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144037778A>T ENST00000467933.1 + 0 1108 P0DMP2 SRG2B_HUMAN SLIT-ROBO Rho GTPase activating protein 2B NA NA nervous system development (GO:0007399) NA accaacatggagaaaccctgt 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA CCDS72854.1 1q21.1 2014-07-10 2013-02-13 2012-05-08 ENSG00000196369 ENSG00000196369 647135 35237 protein-coding gene gene with protein product 614703 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2, SLIT-ROBO Rho GTPase activating protein 2B (pseudogene) SRGAP2P2 NA 22559943, 22559944 Standard NM_001271870 NM_001271870 NA Approved uc010oxm.1 P0DMP2 OTTHUMG00000041442 ENST00000467933.1: chr1.hg19:g.144037778A>T NA hg19 0.02 -0.315693 TGGxGAA COVERED NOVEL SRGAP2B-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352915.1 9 2.407313 KEEP 2 0 0 8 250 AA 0.99257 0.812384 0 + 4 40 107 0 0 7.322115 29 60 844 51 ENST00000467933.1 0.121212 0.818465 SRGAP2B 647135 __UNKNOWN__ __UNKNOWN__ 1 144052606 144052606 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144052606T>C ENST00000467933.1 + 0 1108 P0DMP2 SRG2B_HUMAN SLIT-ROBO Rho GTPase activating protein 2B NA NA nervous system development (GO:0007399) NA tgtgccactgtactccagcct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA CCDS72854.1 1q21.1 2014-07-10 2013-02-13 2012-05-08 ENSG00000196369 ENSG00000196369 647135 35237 protein-coding gene gene with protein product 614703 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2, SLIT-ROBO Rho GTPase activating protein 2B (pseudogene) SRGAP2P2 NA 22559943, 22559944 Standard NM_001271870 NM_001271870 NA Approved uc010oxm.1 P0DMP2 OTTHUMG00000041442 ENST00000467933.1: chr1.hg19:g.144052606T>C NA hg19 0.02 3.614312 CTGxACT COVERED NOVEL SRGAP2B-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352915.1 8 10.829568 KEEP 2 0 0 36 1039 TT 0.999999 0.999999 0 + 8 60 257 0 0 16.648444 116 60 3179 199 ENST00000467933.1 0.064516 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144527903 144527903 __UNKNOWN__ IGR SNP A A C rs578993 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144527903A>C NA NA RP11-640M9.1 (5933 upstream) : RNU1-59P (6134 downstream) NA NA NA ggagtttgagaccagcctggc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144527903A>C NA hg19 0.02 1.932766 GAGxCCA COVERED NOVEL 0 13 3.911242 KEEP 8 0 0 13 391 AA 0.994391 0.961999 0 8 60 273 0 0 21.808693 39 60 1069 98 0.170213 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144532497 144532497 __UNKNOWN__ IGR SNP G G A rs545272 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144532497G>A NA NA RP11-640M9.1 (10527 upstream) : RNU1-59P (1540 downstream) NA NA NA tccctgtcccgaagcaaaccc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144532497G>A NA hg19 0.02 1.394678 CCCxAAG COVERED NOVEL 0 9 3.009158 KEEP 1 0 0 10 326 GG 0.992708 0.988426 0 11 60 330 0 0 25.751416 50 60 1596 111 0.180328 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144535938 144535938 __UNKNOWN__ IGR SNP C C G rs6698370 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144535938C>G NA NA RNU1-59P (1739 upstream) : RP11-640M9.2 (58106 downstream) NA NA NA AAAGTCAGggccgggcatggt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144535938C>G NA hg19 0.02 1.823032 GGGxCGG COVERED NOVEL 0 16 3.009058 KEEP 0 0 0 10 352 CC 0.992708 0.991413 0 8 60 272 0 0 20.278774 61 60 1983 117 0.115942 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144548318 144548318 __UNKNOWN__ IGR SNP C C T rs201096860 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144548318C>T NA NA RNU1-59P (14119 upstream) : RP11-640M9.2 (45726 downstream) NA NA NA tttggaaggccgaggcgggca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144548318C>T NA hg19 0.02 2.811855 GGCxGAG COVERED NOVEL 0 32 2.340195 KEEP 2 1 26 17 554 CC 0.999859 0.999853 0 7 51 206 1 0 13.067652 89 60 2851 188 0.072917 0.999994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144549155 144549155 __UNKNOWN__ IGR SNP C C T rs61801201 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144549155C>T NA NA RNU1-59P (14956 upstream) : RP11-640M9.2 (44889 downstream) NA NA NA atcgtgaggccaagagattgt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144549155C>T NA hg19 0.02 1.269507 GGCxAAG UNCOVERED NOVEL 0 11 2.40783 KEEP 5 0 0 8 284 CC 0 0 0 9 60 262 1 0 18.959799 59 60 1987 122 0.132353 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144583488 144583488 __UNKNOWN__ IGR SNP G G A rs61805033|rs2938034 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144583488G>A NA NA RNU1-59P (49289 upstream) : RP11-640M9.2 (10556 downstream) NA NA NA AACTGAGAGCGTTCCTACTGA 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144583488G>A NA hg19 0.02 -0.30682 AGCxTTC UNCOVERED NOVEL 0 0 2.708095 KEEP 5 0 0 9 284 GG 0 0 0 13 44 366 0 0 32.764227 22 48 668 53 0.371429 0.800245 RP11-640M9.2 0 __UNKNOWN__ __UNKNOWN__ 1 144598320 144598320 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144598320T>C ENST00000419820.1 + 0 439 NA NA NA gatggggtcttactatgttgc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000419820.1: chr1.hg19:g.144598320T>C NA hg19 0.02 -0.175383 TCTxACT UNCOVERED NOVEL RP11-640M9.2-011 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000038365.1 8 2.708247 KEEP 20 0 0 9 281 TT 0 0 0 + 3 23 99 0 0 7.810554 15 60 418 64 ENST00000419820.1 0.166667 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144686315 144686315 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144686315T>C NA NA RP11-640M9.2 (80424 upstream) : NBPF9 (125428 downstream) NA NA NA gcctgtaatctcagcactttg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144686315T>C NA hg19 0.02 -0.394648 ATCxCAG COVERED NOVEL 0 8 3.611362 KEEP 1 0 0 12 391 TT 0.993634 0.920741 0 3 39 102 1 0 7.006423 37 60 1098 87 0.075 0.92664 NBPF9 400818 __UNKNOWN__ __UNKNOWN__ 1 144828845 144828845 __UNKNOWN__ 3'UTR SNP A A T rs61807990 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144828845A>T ENST00000468645.1 + 0 2188 NBPF9_ENST00000281815.8_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_3'UTR Q3BBW0 NBPF9_HUMAN neuroblastoma breakpoint family, member 9 NA NA cytoplasm (GO:0005737) NS(2)|prostate(1) 3 GCACGTGAAGATTTGAATGAA 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS72895.1, CCDS72896.1 1q21.1 2013-01-17 ENSG00000168614 ENSG00000269713 400818 neuroblastoma breakpoint family 31991 protein-coding gene gene with protein product 613999 NA 16079250 Standard NM_001037675 NM_001037675 NA Approved AE01 Q3BBW0 OTTHUMG00000013845 ENST00000468645.1:c.*2185A>T chr1.hg19:g.144828845A>T NA hg19 0.02 3.493604 AAGxTTT COVERED NOVEL NBPF9-002 KNOWN not_best_in_genome_evidence|basic processed_transcript NA protein_coding OTTHUMT00000038846.1 13 12.336776 KEEP 11 0 0 41 1278 AA 1 0.999968 0 + 12 60 369 0 0 27.044356 82 60 2412 222 ENST00000468645.1 0.12766 0.999968 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144899905 144899905 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144899905T>G ENST00000530740.1 - 24 3265 PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Intron|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000529945.1_3'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACCCAGACACTGAATTAGGAG 0.353 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.3226+3171A>C chr1.hg19:g.144899905T>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 3.414658 CACxGAA COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 9 11.842011 KEEP 7 6 190 106 3374 TT 1 1 0 - 11 48 334 0 0 21.861223 131 60 3966 380 ENST00000530740.1 0.077465 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144900033 144900033 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144900033A>G ENST00000530740.1 - 24 3265 PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Intron|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000529945.1_3'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AATTCTTATGATGAGGAACTC 0.289 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.3226+3043T>C chr1.hg19:g.144900033A>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 3.642751 ATGxTGA COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 8 3.359352 KEEP 8 6 185 76 2372 AA 1 0.999998 0 - 15 60 467 0 0 34.530319 100 60 2967 281 ENST00000530740.1 0.130435 0.999998 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144923473 144923473 __UNKNOWN__ Intron SNP C C T rs77385040 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144923473C>T ENST00000530740.1 - 9 1218 PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000529945.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000479408.2_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TAATTACACACCTGAAAAGCA 0.443 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.1179+216G>A chr1.hg19:g.144923473C>T NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.131583 ACAxCTG COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 3 2.407878 KEEP 0 0 0 8 281 CC 0.99257 0.22747 0 - 4 60 120 0 0 10.423355 9 60 311 31 ENST00000530740.1 0.307692 0.229173 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144949516 144949516 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144949516A>G ENST00000530740.1 - 7 968 PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ccaaagtgctaggattacagg 0.463 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.929+2684T>C chr1.hg19:g.144949516A>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.403308 GCTxGGA COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 8 3.008414 KEEP 3 0 0 10 301 AA 0.99257 0.927549 0 - 7 60 225 0 0 17.705947 34 60 939 76 ENST00000530740.1 0.170732 0.934492 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144961548 144961548 __UNKNOWN__ Intron SNP G G C rs2762719 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144961548G>C ENST00000530740.1 - 5 591 PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369347.4_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) aataaaaaatgtactccagct 0.517 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.553-6256C>G chr1.hg19:g.144961548G>C NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.245605 AATxTAC COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 14 2.708441 KEEP 14 0 0 9 296 GG 0.99257 0.636582 0 - 6 60 194 0 0 16.052416 21 60 687 56 ENST00000530740.1 0.222222 0.641347 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144997093 144997093 __UNKNOWN__ Intron SNP G G A rs3845317 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:144997093G>A ENST00000530740.1 - 4 480 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) cttgagatccgcccgccttgg 0.537 NA T PDGFRB MPD G||| 179 0.0357428 0.0159 0.0231 5008 , , NA 35232 0.0605 NA 0.0467 False NA ,,, NA NA NA 2504 0.0348 NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.442-2392C>T chr1.hg19:g.144997093G>A NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 1.239609 TCCxCCC COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 25 3.009674 KEEP 3 0 0 10 347 GG 0.992708 0.992436 0 - 9 60 268 0 0 18.799645 73 60 2287 145 ENST00000530740.1 0.109756 0.999726 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145004892 145004892 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145004892A>G ENST00000530740.1 - 4 480 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) caacactttgagaggccaagg 0.493 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.442-10191T>C chr1.hg19:g.145004892A>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 1.92692 TTGxGAG COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 14 3.611167 KEEP 0 0 0 12 384 AA 0.993634 0.986604 0 - 4 60 140 0 0 9.5899 54 60 1648 100 ENST00000530740.1 0.068966 0.992926 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145014053 145014053 __UNKNOWN__ 3'UTR SNP T T C rs548602 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145014053T>C ENST00000493130.2 - 0 650 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACACCCCTCATTTCTATATTT 0.438 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000493130.2:c.*15A>G chr1.hg19:g.145014053T>C NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 1.930271 TCAxTTC COVERED NOVEL PDE4DIP-027 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000099618.2 5 6.353539 KEEP 0 1 34 33 1024 TT 0.999998 0.998463 0 - 14 60 472 0 0 38.296509 60 60 1718 129 ENST00000493130.2 0.189189 0.998465 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145017906 145017906 __UNKNOWN__ Intron SNP G G A rs12024305 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145017906G>A ENST00000530740.1 - 3 328 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000478649.2_Intron|PDE4DIP_ENST00000493130.2_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGCCAACTTGCCAGAAGGAG 0.468 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.290-1895C>T chr1.hg19:g.145017906G>A NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 8.094867 CTTxCCA COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 56 13.652096 KEEP 0 6 181 109 3938 GG 1 1 0 - 31 60 865 0 0 56.36775 308 60 10537 704 ENST00000530740.1 0.091445 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145019239 145019239 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145019239G>A ENST00000530740.1 - 2 328 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000478649.2_Intron|PDE4DIP_ENST00000493130.2_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) cctgggaggcggaggttgcag 0.478 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.289+1872C>T chr1.hg19:g.145019239G>A NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 1.499871 GGCxGAG COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 20 3.310702 KEEP 2 0 0 11 381 GG 0.993072 0.972741 0 - 4 60 122 0 0 7.921307 50 60 1648 99 ENST00000530740.1 0.074074 0.979526 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145023006 145023006 __UNKNOWN__ Intron SNP C C T rs1663915 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145023006C>T ENST00000530740.1 - 2 272 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000478649.2_Intron|PDE4DIP_ENST00000493130.2_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) tcaggtgatccgcccgcctcg 0.547 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.234-1839G>A chr1.hg19:g.145023006C>T NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 1.270011 ATCxGCC COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 4 5.114404 KEEP 0 0 0 17 548 CC 0.999366 0.996921 0 - 10 60 283 0 0 21.037373 54 60 1700 145 ENST00000530740.1 0.15625 0.997553 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145040075 145040075 __UNKNOWN__ Intron SNP C C T rs3856012 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145040075C>T ENST00000530740.1 - 2 272 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GAACCACCCTCGCGTCTCCCC 0.667 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.234-18908G>A chr1.hg19:g.145040075C>T NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 3.099183 CCTxGCG COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 0 3.846071 KEEP 0 1 32 24 769 CC 0.999931 0.999926 0 - 25 60 713 0 0 57.520842 86 60 2642 173 ENST00000530740.1 0.225225 0.999995 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145056851 145056851 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145056851A>G ENST00000530740.1 - 1 272 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) gctcacgcctataatcccagc 0.438 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.233+18778T>C chr1.hg19:g.145056851A>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 3.873959 CCTxTAA COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 20 6.018315 KEEP 1 0 0 20 626 AA 0.999863 0.999844 0 - 9 60 294 0 0 20.68982 88 60 2501 186 ENST00000530740.1 0.092784 0.999981 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145056875 145056875 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145056875A>G ENST00000530740.1 - 1 272 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ttgggaggccaaggcgggggg 0.463 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.233+18754T>C chr1.hg19:g.145056875A>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 1.599295 GCCxAGG COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 16 4.815106 KEEP 1 0 0 16 520 AA 0.997832 0.997667 0 - 4 60 136 0 1 8.550712 79 60 2307 167 ENST00000530740.1 0.048193 0.999835 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145064251 145064251 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145064251T>C ENST00000530740.1 - 1 272 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) accatcctggttaacacggtg 0.547 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.233+11378A>G chr1.hg19:g.145064251T>C NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.271889 TGGxTAA UNCOVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 9 3.009578 KEEP 3 0 0 10 333 TT 0 0 0 - 3 60 103 0 0 7.543965 26 60 771 61 ENST00000530740.1 0.103448 0.717315 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145070411 145070411 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145070411T>G ENST00000530740.1 - 1 272 PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) gcaacagagttagactccatc 0.438 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.233+5218A>C chr1.hg19:g.145070411T>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.350754 AGTxAGA COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 23 2.407185 KEEP 0 0 0 8 246 TT 0.99257 0.919755 0 - 4 60 126 0 0 9.218796 29 60 805 71 ENST00000530740.1 0.121212 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145080374 145080374 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145080374T>A NA NA PDE4DIP (4188 upstream) : SEC22B (15845 downstream) NA NA NA cacgcctgtattcccagcact 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.145080374T>A NA hg19 0.02 1.482466 GTAxTCC COVERED NOVEL 0 17 2.407215 KEEP 3 0 0 8 255 TT 0.99257 0.978827 0 4 60 124 0 0 8.259902 46 60 1332 95 0.08 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145092287 145092287 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145092287T>C NA NA PDE4DIP (16101 upstream) : SEC22B (3932 downstream) NA NA NA cgtgagccactgcgcccggcc 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.145092287T>C NA hg19 0.02 1.511389 CACxGCG COVERED NOVEL 0 15 7.523226 KEEP 0 0 0 25 793 TT 0.999957 0.994379 0 5 60 160 0 0 10.915957 55 60 1642 126 0.083333 0.994422 SEC22B 9554 __UNKNOWN__ __UNKNOWN__ 1 145112221 145112221 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145112221T>C ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NA tggtctcgatttcctgacctc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF047442 1q21.1 2012-04-20 2010-03-12 2006-04-25 ENSG00000223380 9554 10700 protein-coding gene gene with protein product 604029 SEC22, vesicle trafficking protein (S. cerevisiae)-like 1, SEC22 vesicle trafficking protein-like 1 (S. cerevisiae), SEC22 vesicle trafficking protein homolog B (S. cerevisiae) SEC22L1 NA 9094723, 16354670 Standard NM_004892 NM_004892 NA Approved sec22b, ERS-24 uc031poa.1 O75396 OTTHUMG00000013745 ENST00000453618.1: chr1.hg19:g.145112221T>C NA A8K1G0 hg19 0.02 1.149372 GATxTCC COVERED NOVEL SEC22B-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000038523.5 24 3.14293 KEEP 2 1 39 24 714 TT 0.999931 0.999861 0 + 5 60 143 0 0 8.368609 83 60 2304 174 ENST00000453618.1 0.056818 0.99993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145137736 145137736 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145137736T>C NA NA SEC22B (20814 upstream) : RNU6-1071P (12003 downstream) NA NA NA gattgtgccattgcactccag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.145137736T>C NA hg19 0.02 1.558331 CCAxTGC COVERED NOVEL 0 14 13.270612 KEEP 40 1 37 57 1647 TT 1 0.997553 0 5 60 162 0 0 10.935926 60 48 1600 178 0.076923 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145145427 145145427 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145145427T>C NA NA SEC22B (28505 upstream) : RNU6-1071P (4312 downstream) NA NA NA gaggtcgaggtaggtggatca 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.145145427T>C NA hg19 0.02 -0.201497 AGGxAGG COVERED NOVEL 0 8 2.407174 KEEP 0 0 0 8 245 TT 0.99257 0.4869 0 3 60 87 0 0 6.536399 16 60 414 43 0.157895 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145160197 145160197 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145160197T>C NA NA RNU6-1071P (10357 upstream) : RP11-458D21.6 (40140 downstream) NA NA NA tgcagtgagctgagattgcac 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.145160197T>C NA hg19 0.02 -0.385872 AGCxGAG COVERED NOVEL 0 16 2.708232 KEEP 4 0 0 9 283 TT 0.99257 0.911349 0 4 60 121 0 0 8.510166 33 60 966 76 0.108108 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145194244 145194244 __UNKNOWN__ IGR SNP A A G rs200041835 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145194244A>G NA NA RNU6-1071P (44404 upstream) : RP11-458D21.6 (6093 downstream) NA NA NA cgcctctattaaaaatacaaa 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.145194244A>G NA hg19 0.02 -0.263047 ATTxAAA COVERED NOVEL 0 10 2.707284 KEEP 2 0 0 9 262 AA 0.99254 0.688494 0 5 49 177 0 0 14.381838 23 50 614 54 0.178571 0.693668 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145209869 145209869 __UNKNOWN__ Intron SNP A A C rs80228373 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145209869A>C ENST00000468030.1 + 1 292 NOTCH2NL_ENST00000362074.6_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA TGAGCGAAGGAATGCCAGATT 0.692 NA A||| 1548 0.309105 0.3903 0.2997 5008 , , NA 31592 0.2014 NA 0.332 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.-45+433A>C chr1.hg19:g.145209869A>C NA hg19 0.02 22.754462 AGGxATG COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 7 24.840021 KEEP 82 20 703 328 9635 AA 1 1 0 + 21 49 648 0 0 33.460355 721 51 19927 1382 ENST00000468030.1 0.028302 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145209870 145209870 __UNKNOWN__ Intron SNP A A G rs76440671 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145209870A>G ENST00000468030.1 + 1 292 NOTCH2NL_ENST00000362074.6_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA GAGCGAAGGAATGCCAGATTC 0.697 NA A||| 1548 0.309105 0.3903 0.2997 5008 , , NA 30891 0.2014 NA 0.332 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.-45+434A>G chr1.hg19:g.145209870A>G NA hg19 0.02 21.618131 GGAxTGC COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 7 27.294362 KEEP 77 20 675 327 9730 AA 1 1 0 + 22 49 633 0 0 31.278962 714 51 20064 1370 ENST00000468030.1 0.029891 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145267022 145267022 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145267022T>A ENST00000468030.1 + 3 374 NOTCH2NL_ENST00000362074.6_Intron|NOTCH2NL_ENST00000369340.3_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA ctgagattactggtgtgagcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.39-6163T>A chr1.hg19:g.145267022T>A NA hg19 0.02 3.099052 TACxGGT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 24 3.445647 KEEP 3 1 33 23 740 TT 0.999909 0.999904 0 + 8 49 234 0 0 15.058841 94 60 2841 208 ENST00000468030.1 0.078431 0.999995 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145271117 145271117 __UNKNOWN__ Intron SNP G G A rs78264605 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145271117G>A ENST00000468030.1 + 3 374 NOTCH2NL_ENST00000362074.6_Intron|NOTCH2NL_ENST00000369340.3_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA ccaggctggagtgtagtggca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.39-2068G>A chr1.hg19:g.145271117G>A NA hg19 0.02 -0.324585 GGAxTGT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 14 2.407996 KEEP 2 0 0 8 297 GG 0.99257 0.829507 0 + 7 60 213 0 0 17.449163 24 50 840 64 ENST00000468030.1 0.225806 0.835716 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145273780 145273780 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145273780A>C ENST00000468030.1 + 3 634 NOTCH2NL_ENST00000362074.6_Intron|NOTCH2NL_ENST00000369340.3_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA ccagcctgggaaacatagcaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.298+336A>C chr1.hg19:g.145273780A>C NA hg19 0.02 1.599319 GGGxAAC COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 24 5.114932 KEEP 1 0 0 17 528 AA 0.999366 0.999202 0 + 5 27 171 0 0 11.482706 71 60 2042 146 ENST00000468030.1 0.065789 0.999835 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290401 145290401 __UNKNOWN__ Intron SNP T T G rs77093221 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145290401T>G ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000344859.3_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA GCTTTGAGTATAAATTAAGTT 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 214 221 219 NA NA NA 1 NA NA 145290401 876 1991 2867 SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.635-2713T>G chr1.hg19:g.145290401T>G NA hg19 0.02 1.704892 GTAxAAA COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 7 21.71908 KEEP 0 2 74 98 2746 TT 1 0.998993 0 + 8 40 266 0 0 19.415201 66 60 1729 182 ENST00000468030.1 0.108108 0.998993 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290409 145290409 __UNKNOWN__ Intron SNP G G A rs77693292 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145290409G>A ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000344859.3_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA TATAAATTAAGTTTACCTCTT 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 253 258 256 NA NA NA 1 NA NA 145290409 876 1991 2867 SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.635-2705G>A chr1.hg19:g.145290409G>A NA hg19 0.02 2.980104 TAAxTTT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 6 26.609225 KEEP 0 4 130 134 4555 GG 1 0.999978 0 + 11 49 303 0 0 20.571381 88 60 2898 246 ENST00000468030.1 0.111111 0.999978 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290498 145290498 __UNKNOWN__ Intron SNP T T G rs76101707 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145290498T>G ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000479995.2_3'UTR|NOTCH2NL_ENST00000344859.3_3'UTR|NBPF10_ENST00000369339.3_5'UTR NA NA NA GAATTCAAACTTCAGCAGTCA 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 256 261 260 NA NA NA 1 NA NA 145290498 876 1991 2867 SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.635-2616T>G chr1.hg19:g.145290498T>G NA hg19 0.02 21.533732 AACxTCA COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 36 51.687375 KEEP 4 42 1383 656 20709 TT 1 1 0 + 27 60 887 0 0 55.268414 504 60 15348 1849 ENST00000468030.1 0.050847 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290535 145290535 __UNKNOWN__ Intron SNP C C T rs76602996 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145290535C>T ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000479995.2_Intron|NOTCH2NL_ENST00000344859.3_Intron|NBPF10_ENST00000369339.3_Intron NA NA NA TCTTATAAACCTATTCTAGCC 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 123 129 127 NA NA NA 1 NA NA 145290535 876 1991 2867 SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.635-2579C>T chr1.hg19:g.145290535C>T NA hg19 0.02 22.487267 AACxTAT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 33 69.279226 KEEP 5 44 1406 723 25759 CC 1 1 0 + 22 60 634 0 0 32.581383 614 60 20763 1987 ENST00000468030.1 0.034591 1 NBPF10 100132406 __UNKNOWN__ __UNKNOWN__ 1 145323668 145323668 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145323668G>C ENST00000369339.3 + 10 1293 NBPF10_ENST00000342960.5_Missense_Mutation_p.E1169Q|NBPF10_ENST00000369338.1_Intron Q6P3W6 NBPFA_HUMAN neuroblastoma breakpoint family, member 10 NA NA cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAAAGGACGAAGAAGAGGA 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC021111 1q21.1 2013-01-17 ENSG00000163386 ENSG00000271425 100132406 neuroblastoma breakpoint family 31992 protein-coding gene gene with protein product 614000 NA 16079250 Standard NM_001039703 NM_001039703 NA Approved AG1 Q6P3W6 OTTHUMG00000013757 ENST00000369339.3:c.1040+12514G>C chr1.hg19:g.145323668G>C NA Q5RHC0|Q9NWN6 hg19 0.02 7.724316 GACxAAG COVERED . . . . . . . . . . . 0 -2.650168 0.00109 . . ENSG00000163386 ENST00000342960 T 0.03386 3.95 . . . . . . . . T 0.00144 0.0004 N 0.00060 -2.34 0.09310 N 1 . . . . . . T 0.41431 -0.9509 5 0.02654 T 1 . . . . . . . . Q 1169 ENSP00000345684:E1169Q ENSP00000345684:E1169Q E + 1 0 NBPF10 144035025 0.003000 0.15002 0.002000 0.10522 0.081000 0.17604 0.046000 0.14035 -1.251000 0.02494 -1.858000 0.00562 GAA NOVEL NBPF10-001 KNOWN not_best_in_genome_evidence|basic protein_coding NA protein_coding OTTHUMT00000038550.3 10 10.467159 KEEP 19 1 35 47 1531 GG 1 1 0 + 9 60 303 0 0 18.396974 205 60 6503 428 ENST00000369339.3 0.042056 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145425659 145425659 __UNKNOWN__ IGR SNP C C T rs587642214 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145425659C>T NA NA HFE2 (8114 upstream) : TXNIP (12809 downstream) NA NA NA cctgggaggccgaggtgggag 0.542 NA T||| 1 0.000199681 0 0 5008 , , NA 15316 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.145425659C>T NA hg19 0.02 -0.271931 GGCxGAG COVERED NOVEL 0 9 3.009656 KEEP 0 0 0 10 339 CC 0.992708 0.712085 0 3 60 92 0 0 6.493056 25 60 821 57 0.107143 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145426720 145426720 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145426720A>G NA NA HFE2 (9175 upstream) : TXNIP (11748 downstream) NA NA NA ggtggctcacacctgtaatcc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.145426720A>G NA hg19 0.02 -0.280594 CACxCCT COVERED NOVEL 0 3 2.707679 KEEP 2 0 0 9 272 AA 0.99254 0.734154 0 3 60 104 0 0 7.552774 28 60 794 66 0.096774 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 145429078 145429078 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145429078T>C NA NA HFE2 (11533 upstream) : TXNIP (9390 downstream) NA NA NA cctcggcctctcaaagtgctg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.145429078T>C NA hg19 0.02 -0.306994 CTCxCAA COVERED NOVEL 0 5 2.708509 KEEP 4 0 0 9 293 TT 0.99257 0.7943 0 3 60 98 0 0 6.952887 28 60 858 82 0.096774 0.800245 RP11-315I20.1 0 __UNKNOWN__ __UNKNOWN__ 1 145502663 145502663 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145502663C>T ENST00000598354.1 - 0 559 RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA NA NA NA atctggtctccctttcttttc 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000598354.1: chr1.hg19:g.145502663C>T NA hg19 0.02 -0.271938 CTCxCTT COVERED NOVEL RP11-315I20.1-009 KNOWN basic antisense NA antisense OTTHUMT00000461239.1 9 2.708746 KEEP 0 0 0 9 308 CC 0.99254 0.711964 0 - 3 60 92 0 0 6.398399 27 60 892 53 ENST00000598354.1 0.1 0.717315 CD160 11126 __UNKNOWN__ __UNKNOWN__ 1 145698057 145698057 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145698057T>C ENST00000369288.2 - 5 756 CD160_ENST00000401557.3_Intron|CD160_ENST00000235933.6_Intron|CD160_ENST00000369290.1_3'UTR NM_007053.2 NP_008984.1 O95971 BY55_HUMAN CD160 molecule NA NA cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776) anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886) MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102) endometrium(3)|large_intestine(2)|lung(2) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) ctgcctgccttggcctcccaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(182;1122 1999 4065 44014 53024) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF060981 CCDS72861.1 1q21.2 2011-01-25 2006-03-28 ENSG00000117281 ENSG00000117281 11126 CD molecules 17013 protein-coding gene gene with protein product 604463 CD160 antigen NA 9743336, 9973372 Standard NM_007053 NM_007053 NA Approved BY55, NK1, NK28 uc001eol.1 O95971 OTTHUMG00000013749 ENST00000369288.2:c.538+895A>G chr1.hg19:g.145698057T>C NA hg19 CCDS923.1 0.02 3.69251 CCTxGGC COVERED NOVEL CD160-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000038532.2 12 6.904239 KEEP 0 0 0 23 634 TT 0.999892 0.99986 0 - 6 60 195 0 0 12.828172 83 60 2263 155 ENST00000369288.2 0.067416 0.999968 CD160 11126 __UNKNOWN__ __UNKNOWN__ 1 145706515 145706515 __UNKNOWN__ Intron SNP C C T rs587648322 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:145706515C>T ENST00000369288.2 - 3 291 CD160_ENST00000401557.3_Intron|CD160_ENST00000235933.6_Intron|CD160_ENST00000369290.1_Intron NM_007053.2 NP_008984.1 O95971 BY55_HUMAN CD160 molecule NA NA cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776) anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886) MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102) endometrium(3)|large_intestine(2)|lung(2) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) tgcagtgagccgagatcgcgc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(182;1122 1999 4065 44014 53024) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF060981 CCDS72861.1 1q21.2 2011-01-25 2006-03-28 ENSG00000117281 ENSG00000117281 11126 CD molecules 17013 protein-coding gene gene with protein product 604463 CD160 antigen NA 9743336, 9973372 Standard NM_007053 NM_007053 NA Approved BY55, NK1, NK28 uc001eol.1 O95971 OTTHUMG00000013749 ENST00000369288.2:c.73+170G>A chr1.hg19:g.145706515C>T NA hg19 CCDS923.1 0.02 1.232163 AGCxGAG COVERED NOVEL CD160-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000038532.2 1 4.815274 KEEP 1 0 0 16 532 CC 0.997832 0.991548 0 - 5 60 136 0 0 8.602054 53 60 1720 90 ENST00000369288.2 0.086207 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 146025300 146025300 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:146025300G>T NA NA RNVU1-7 (55867 upstream) : NBPF11 (7346 downstream) NA NA NA ATAAATAGTTGTTCTTTCACT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.146025300G>T NA hg19 0.02 -0.271867 GTTxTTC COVERED NOVEL 0 3 3.00897 KEEP 4 0 0 10 326 GG 0.992708 0.734278 0 8 59 218 0 0 18.342019 20 60 636 51 0.285714 0.739671 ACP6 51205 __UNKNOWN__ __UNKNOWN__ 1 147124926 147124926 __UNKNOWN__ Intron SNP G G A rs112251895 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:147124926G>A ENST00000369238.6 - 7 1228 ACP6_ENST00000392988.2_Intron NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic NA NA dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644) cytoplasm (GO:0005737)|mitochondrion (GO:0005739) acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642) breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) gagccaccgcgcctggccTGT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC009965 CCDS928.1 1q21 2008-02-05 ENSG00000162836 ENSG00000162836 51205 29609 protein-coding gene gene with protein product 611471 NA 12010880, 10506173 Standard NM_016361 NM_016361 NA Approved LPAP, ACPL1 uc001epr.2 Q9NPH0 OTTHUMG00000014019 ENST00000369238.6:c.781-574C>T chr1.hg19:g.147124926G>A NA Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6 hg19 CCDS928.1 0.02 1.298193 CGCxCCT COVERED NOVEL ACP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039420.2 11 2.407454 KEEP 1 0 0 8 261 GG 0.99257 0.991687 0 - 18 49 513 1 0 42.821872 50 60 1603 126 ENST00000369238.6 0.264706 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148528700 148528700 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148528700T>C NA NA NBPF20 (181649 upstream) : NBPF15 (27278 downstream) NA NA NA cctgtaatcctagcactttgg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148528700T>C NA hg19 0.02 1.552887 TCCxAGC COVERED NOVEL 0 17 4.513829 KEEP 15 0 0 15 475 TT 0.995343 0.994904 0 4 40 137 0 0 8.673186 78 51 2271 167 0.04878 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148536189 148536189 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148536189T>G NA NA NBPF20 (189138 upstream) : NBPF15 (19789 downstream) NA NA NA gagccaccactcccagccTCT 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148536189T>G NA hg19 0.02 -0.385368 CACxCCC COVERED NOVEL 0 11 2.708344 KEEP 0 0 0 9 288 AT 0.992708 0.927678 0 3 41 99 0 1 6.675419 38 60 1141 86 0.073171 0.934492 NBPF15 284565 __UNKNOWN__ __UNKNOWN__ 1 148559655 148559655 __UNKNOWN__ Intron SNP T T C rs201269730 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148559655T>C ENST00000464336.2 + 4 531 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 NA NA cytoplasm (GO:0005737) NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) tcaagcagtctgcccacctca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC023087 CCDS72852.1 1q21.1 2014-01-16 ENSG00000243452 ENSG00000266338 284565 neuroblastoma breakpoint family 28791 protein-coding gene gene with protein product 610414, 614005 neuroblastoma breakpoint family, member 16 NBPF16 NA 16079250 Standard NM_173638 NM_173638 NA Approved MGC8902 uc001esc.2 Q8N660 OTTHUMG00000013634 ENST00000464336.2:c.532-1192T>C chr1.hg19:g.148559655T>C NA Q3BBV9|Q8IX77 hg19 0.02 -0.131538 GTCxGCC COVERED NOVEL NBPF15-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000037996.8 9 2.999295 KEEP 7 0 0 10 286 TT 0.99254 0.227464 0 + 4 31 121 0 0 10.231518 11 50 319 44 ENST00000464336.2 0.266667 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148639069 148639069 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148639069C>G NA NA RNVU1-15 (33997 upstream) : NBPF16 (100373 downstream) NA NA NA GAGAGAGAAACTGTAATTTCA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148639069C>G NA hg19 0.02 1.844753 AAAxTGT COVERED NOVEL 0 31 3.59157 KEEP 6 0 0 12 410 CC 0.993072 0.984099 0 5 42 166 0 0 11.8397 47 60 1608 93 0.096154 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148859650 148859650 __UNKNOWN__ IGR SNP C C G rs58066557 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148859650C>G NA NA RP11-763B22.6 (5933 upstream) : RNA5SP59 (53622 downstream) NA NA NA cactatattgcccaggctggt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148859650C>G NA hg19 0.02 1.935605 TTGxCCA COVERED NOVEL 0 41 3.045742 KEEP 52 1 34 22 795 CC 0.999859 0.992786 0 4 47 134 0 0 8.959903 55 48 1856 192 0.067797 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148870759 148870759 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148870759C>T NA NA RP11-763B22.6 (17042 upstream) : RNA5SP59 (42513 downstream) NA NA NA ATTggcccagcgcagtggttc 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148870759C>T NA hg19 0.02 -0.24559 CAGxGCA COVERED NOVEL 0 8 3.009772 KEEP 6 0 0 10 357 CC 0.99257 0.636582 0 3 60 94 0 0 6.90587 21 52 706 56 0.125 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148878111 148878111 __UNKNOWN__ IGR SNP C C T rs2494564 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148878111C>T NA NA RP11-763B22.6 (24394 upstream) : RNA5SP59 (35161 downstream) NA NA NA ccttggcctcccaaagtgttg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148878111C>T NA hg19 0.02 1.555144 CTCxCAA UNCOVERED NOVEL 0 17 2.407809 KEEP 6 0 0 8 277 CC 0 0 0 8 49 245 0 0 18.552975 45 60 1506 103 0.150943 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148893869 148893869 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148893869A>G NA NA RP11-763B22.6 (40152 upstream) : RNA5SP59 (19403 downstream) NA NA NA ttgggaggccaaggcgggtgg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148893869A>G NA hg19 0.02 1.464761 GCCxAGG COVERED NOVEL 0 25 3.609302 KEEP 8 0 0 12 354 AA 0.992708 0.992627 0 4 60 129 0 1 7.814875 81 60 2301 171 0.047059 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148900294 148900294 __UNKNOWN__ IGR SNP C C T rs7552224 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148900294C>T NA NA RP11-763B22.6 (46577 upstream) : RNA5SP59 (12978 downstream) NA NA NA tcactgcaagctctgcctccc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148900294C>T NA hg19 0.02 1.427258 AAGxTCT COVERED NOVEL 0 13 3.009902 KEEP 2 0 0 10 360 CC 0.99254 0.963578 0 5 60 138 0 0 9.232081 43 60 1515 86 0.104167 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148902002 148902002 __UNKNOWN__ IGR SNP T T C rs61518863 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:148902002T>C NA NA RP11-763B22.6 (48285 upstream) : RNA5SP59 (11270 downstream) NA NA NA CGGCTTGCTCTCTTCTCTCGC 0.741 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148902002T>C NA hg19 0.02 10.876674 CTCxCTT COVERED NOVEL 0 1 6.171693 KEEP 23 2 67 44 1343 TT 1 1 0 24 60 788 0 0 53.058948 302 60 8630 589 0.07362 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 149029037 149029037 __UNKNOWN__ IGR SNP A A G rs145033474 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:149029037A>G NA NA RP11-14N7.2 (77442 upstream) : AL732363.1 (7274 downstream) NA NA NA gaaagaaagaaagaaagaaag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.149029037A>G NA hg19 0.02 -0.210452 AGAxAGA UNCOVERED NOVEL 0 19 3.309649 KEEP 16 0 0 11 342 AA 0 0 0 3 60 100 2 2 7.910501 15 60 420 52 0.166667 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 149211622 149211622 __UNKNOWN__ IGR SNP G G A rs61787858 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:149211622G>A NA NA RNVU1-17 (17353 upstream) : RNU1-92P (3543 downstream) NA NA NA TGGAGCAGGCggctgggcacg 0.547 NA g||| 838 0.167332 0.0091 0.2233 5008 , , NA 13800 0.4157 NA 0.1004 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.149211622G>A NA hg19 0.02 -0.342074 GGCxGCT COVERED NOVEL 0 5 3.310565 KEEP 1 0 0 11 375 GG 0.993072 0.859748 0 14 60 423 1 0 48.973672 0 0 0 80 1 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 149584989 149584989 __UNKNOWN__ IGR SNP A A G rs2492731 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:149584989A>G NA NA RP11-353N4.6 (2385 upstream) : RP11-277L2.5 (2512 downstream) NA NA NA ggcacacaccaccacggccag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.149584989A>G NA hg19 0.02 -0.315657 ACCxCCA COVERED NOVEL 0 9 3.008188 KEEP 2 0 0 10 290 AA 0.992708 0.812496 0 4 49 129 0 0 9.463217 30 60 828 62 0.117647 0.818465 PLEKHO1 51177 __UNKNOWN__ __UNKNOWN__ 1 150130871 150130871 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150130871A>G ENST00000369124.4 + 6 803 PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000479194.1_Intron|PLEKHO1_ENST00000369126.1_Intron NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) gtgacagagcaagactctgtc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF073836 CCDS945.1 1q21.2 2013-01-10 ENSG00000023902 ENSG00000023902 51177 Pleckstrin homology (PH) domain containing 24310 protein-coding gene gene with protein product 608335 NA 10799509 Standard NM_016274 NM_016274 NA Approved CKIP-1, OC120 uc001ett.3 Q53GL0 OTTHUMG00000012510 ENST00000369124.4:c.526-143A>G chr1.hg19:g.150130871A>G NA Q336K5|Q8IZ51|Q9NRV3|Q9UL48 hg19 CCDS945.1 0.02 3.397219 AGCxAGA COVERED NOVEL PLEKHO1-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034962.1 13 22.181709 KEEP 0 1 35 86 2629 AA 1 1 0 + 6 60 187 0 0 11.041821 124 60 3651 284 ENST00000369124.4 0.046154 1 ANP32E 81611 __UNKNOWN__ __UNKNOWN__ 1 150195759 150195759 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150195759T>C ENST00000533654.1 - 5 684 ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000369119.3_Intron|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000314136.8_Intron Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member E NA NA histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086) cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812) histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212) breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1) 15 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) gtaatcccagtactttgggag 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092672 CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1 1q22 2008-02-05 ENSG00000143401 ENSG00000143401 81611 ANP32 acidic nuclear phosphoproteins 16673 protein-coding gene gene with protein product 609611 NA 12438741 Standard NM_030920 NM_030920 NA Approved LANPL, MGC5350, LANP-L uc001etw.3 Q9BTT0 OTTHUMG00000012547 ENST00000533654.1:c.496-2696A>G chr1.hg19:g.150195759T>C NA B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9 hg19 0.02 1.997769 CAGxACT COVERED NOVEL ANP32E-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000387927.1 7 4.212584 KEEP 1 0 0 14 429 TT 0.995343 0.974965 0 - 4 60 144 0 0 10.333949 44 60 1191 87 ENST00000533654.1 0.083333 0.979526 ANP32E 81611 __UNKNOWN__ __UNKNOWN__ 1 150201631 150201631 __UNKNOWN__ Intron SNP C C T rs374089746|rs368884324|rs373945324 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150201631C>T ENST00000533654.1 - 3 496 ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000369119.3_Intron|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000314136.8_Intron Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member E NA NA histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086) cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812) histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212) breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1) 15 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TTTCttttttctttttttttt 0.358 NA C||| 2383 0.475839 0.4697 0.4798 5008 , , NA 15852 0.4802 NA 0.4751 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092672 CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1 1q22 2008-02-05 ENSG00000143401 ENSG00000143401 81611 ANP32 acidic nuclear phosphoproteins 16673 protein-coding gene gene with protein product 609611 NA 12438741 Standard NM_030920 NM_030920 NA Approved LANPL, MGC5350, LANP-L uc001etw.3 Q9BTT0 OTTHUMG00000012547 ENST00000533654.1:c.327+1274G>A chr1.hg19:g.150201631C>T NA B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9 hg19 0.02 -0.078898 TTTxTTT UNCOVERED NOVEL ANP32E-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000387927.1 2 2.698424 KEEP 1 0 0 9 259 CC 0.99254 0.076759 0 - 3 60 78 1 0 7.153939 4 60 114 21 ENST00000533654.1 0.428571 0.077336 RPRD2 23248 __UNKNOWN__ __UNKNOWN__ 1 150406568 150406568 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150406568T>C ENST00000369068.4 + 3 339 RPRD2_ENST00000492220.1_Intron|RPRD2_ENST00000369067.3_Intron|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000401000.4_Intron NM_015203.3 NP_056018.2 Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 NA NA DNA-directed RNA polymerase II, holoenzyme (GO:0016591) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 tggtggctcatgcctgtaatc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX641025 CCDS44216.1, CCDS72907.1 1q21.2 2012-02-09 2008-08-15 2008-07-28 ENSG00000163125 ENSG00000163125 23248 29039 protein-coding gene gene with protein product 614695 KIAA0460 KIAA0460 NA 22231121 Standard NM_015203 XM_005245033 NA Approved FLJ32145, HSPC099 uc009wlr.3 Q5VT52 OTTHUMG00000012808 ENST00000369068.4:c.336-6831T>C chr1.hg19:g.150406568T>C NA A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7 hg19 CCDS44216.1 0.02 -0.394637 TCAxGCC COVERED NOVEL RPRD2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000035844.1 10 2.407095 KEEP 1 0 0 8 244 TT 0.99257 0.919755 0 + 3 60 95 0 0 6.307329 37 60 1073 74 ENST00000369068.4 0.075 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 150456562 150456562 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150456562T>C NA NA RPRD2 (7520 upstream) : TARS2 (3324 downstream) NA NA NA gcctgtaatctcagcactttg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.150456562T>C NA hg19 0.02 -0.333283 ATCxCAG COVERED NOVEL 0 11 3.310031 KEEP 0 0 0 11 347 TT 0.993072 0.846082 0 3 60 100 1 0 6.987343 32 60 962 70 0.085714 0.851984 ENSA 2029 __UNKNOWN__ __UNKNOWN__ 1 150573336 150573336 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150573336G>A ENST00000369016.4 - 0 913 O43768 ENSA_HUMAN endosulfine alpha NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(1)|lung(1) 4 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171) tccgggaggcggaggttgcat 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(188;763 2078 3002 3411 26027) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X99906 CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1 1q21.3 2010-03-11 ENSG00000143420 ENSG00000143420 2029 3360 protein-coding gene gene with protein product 603061 NA 9653196 Standard NM_207042 NM_004436 NA Approved MGC4319, MGC8394, MGC78563, ARPP-19e uc001eve.3 O43768 OTTHUMG00000035004 ENST00000369016.4:c.*254C>T chr1.hg19:g.150573336G>A NA A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0 hg19 0.02 2.509412 GGCxGAG COVERED NOVEL ENSA-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000087245.1 5 14.142695 KEEP 0 0 0 47 1517 GG 1 0.999999 0 - 7 60 190 0 0 11.199241 98 60 2860 181 ENST00000369016.4 0.066667 0.999999 ENSA 2029 __UNKNOWN__ __UNKNOWN__ 1 150573494 150573494 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150573494T>C ENST00000369016.4 - 0 755 O43768 ENSA_HUMAN endosulfine alpha NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(1)|lung(1) 4 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171) cagtggctcatgcctgtaatc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(188;763 2078 3002 3411 26027) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X99906 CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1 1q21.3 2010-03-11 ENSG00000143420 ENSG00000143420 2029 3360 protein-coding gene gene with protein product 603061 NA 9653196 Standard NM_207042 NM_004436 NA Approved MGC4319, MGC8394, MGC78563, ARPP-19e uc001eve.3 O43768 OTTHUMG00000035004 ENST00000369016.4:c.*96A>G chr1.hg19:g.150573494T>C NA A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0 hg19 0.02 15.124335 TCAxGCC COVERED NOVEL ENSA-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000087245.1 133 31.896188 KEEP 2 7 217 182 5704 TT 1 1 0 - 18 60 601 1 1 37.017731 373 60 11040 932 ENST00000369016.4 0.046036 1 GOLPH3L 55204 __UNKNOWN__ __UNKNOWN__ 1 150619767 150619767 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150619767A>G ENST00000271732.3 - 0 1932 NM_018178.5 NP_060648.2 Q9H4A5 GLP3L_HUMAN golgi phosphoprotein 3-like NA NA Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714) Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588) phosphatidylinositol-4-phosphate binding (GO:0070273) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) gagcccaggaattcaagacca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ296153 CCDS966.1 1q21 2008-02-05 ENSG00000143457 ENSG00000143457 55204 24882 protein-coding gene gene with protein product 612208 NA Standard NM_018178 NM_018178 NA Approved GPP34R uc001evj.2 Q9H4A5 OTTHUMG00000035009 ENST00000271732.3:c.*1030T>C chr1.hg19:g.150619767A>G NA B1AN09|B7Z6N3|Q9NVK0 hg19 CCDS966.1 0.02 5.209974 GGAxTTC COVERED NOVEL GOLPH3L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084734.1 30 9.698673 KEEP 4 2 71 57 1792 AA 1 1 0 - 7 60 224 0 0 13.070933 164 60 4836 347 ENST00000271732.3 0.040936 1 CTSS 1520 __UNKNOWN__ __UNKNOWN__ 1 150705376 150705376 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150705376T>C ENST00000368985.3 - 0 1402 CTSS_ENST00000448301.2_3'UTR NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S NA NA adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224) endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020) collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) tgagccaccgtgcccggccTC 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M90696 CCDS968.1, CCDS55634.1 1q21 2008-02-05 ENSG00000163131 ENSG00000163131 1520 3.4.22.27 Cathepsins 2545 protein-coding gene gene with protein product 116845 NA 1373132 Standard NM_004079 NM_001199739 NA Approved uc001evn.3 P25774 OTTHUMG00000035010 ENST00000368985.3:c.*146A>G chr1.hg19:g.150705376T>C NA B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3 hg19 CCDS968.1 0.02 5.558 CCGxGCC COVERED NOVEL CTSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084737.1 20 19.850324 KEEP 1 0 0 66 1995 TT 1 1 0 - 7 60 235 1 0 14.424639 150 70 4389 340 ENST00000368985.3 0.044586 1 ARNT 405 __UNKNOWN__ __UNKNOWN__ 1 150790035 150790035 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:150790035A>G ENST00000354396.2 - 16 1517 ARNT_ENST00000515192.1_Intron|ARNT_ENST00000358595.5_Intron|ARNT_ENST00000505755.1_Intron P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator NA NA cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) tgtaatcccaacactttggga 0.423 NA T ETV6 AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q21 405 aryl hydrocarbon receptor nuclear translocator L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF001307 CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1 1q21 2013-05-21 ENSG00000143437 ENSG00000143437 405 Basic helix-loop-helix proteins 700 protein-coding gene gene with protein product 126110 NA Standard NM_001668 NA Approved HIF-1beta, bHLHe2 uc001evr.2 P27540 OTTHUMG00000035011 ENST00000354396.2:c.1506-126T>C chr1.hg19:g.150790035A>G NA B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7 hg19 0.02 -0.289398 CCAxCAC COVERED NOVEL ARNT-010 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000360630.1 2 2.406555 KEEP 1 0 0 8 243 AA 0.99257 0.755234 0 - 3 60 98 0 0 6.998843 27 60 790 67 ENST00000354396.2 0.1 0.760887 PRUNE 58497 __UNKNOWN__ __UNKNOWN__ 1 151006088 151006088 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151006088A>G ENST00000271620.3 + 8 1089 PRUNE_ENST00000368936.1_Intron|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000368934.1_Intron|PRUNE_ENST00000271619.8_Intron NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase NA NA cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634) inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872) NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ggatggtctcaatctcctgac 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U67085 CCDS977.1 1q21.2 2013-04-29 2013-04-29 ENSG00000143363 ENSG00000143363 58497 3.6.1.11 13420 protein-coding gene gene with protein product prune homolog (Drosophila) NA 10602478, 11687967, 18700747 Standard NM_021222 NM_021222 NA Approved DRES-17, HTCD37 uc001ewh.1 Q86TP1 OTTHUMG00000035062 ENST00000271620.3:c.934-194A>G chr1.hg19:g.151006088A>G NA B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0 hg19 CCDS977.1 0.02 -0.201442 CTCxATC COVERED NOVEL PRUNE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084885.1 4 2.407612 KEEP 4 0 0 8 263 AA 0.99257 0.4869 0 + 4 60 108 0 0 8.099088 19 60 541 41 ENST00000271620.3 0.173913 0.490544 BNIPL 149428 __UNKNOWN__ __UNKNOWN__ 1 151019496 151019496 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151019496T>C ENST00000368931.3 + 0 1563 BNIPL_ENST00000295294.7_3'UTR NM_138278.3 NP_612122.2 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like NA NA apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009) cytosol (GO:0005829)|nucleus (GO:0005634) identical protein binding (GO:0042802) autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) agtgcagtggtgcgatctcgg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF193056 CCDS978.2, CCDS53362.1 1q21.2 2008-02-05 ENSG00000163141 ENSG00000163141 149428 16976 protein-coding gene gene with protein product 611275 NA 12681488, 11741952 Standard NM_138279 NM_138278 NA Approved BNIPl-1, BNIPL-2, PP753 uc001ewl.2 Q7Z465 OTTHUMG00000035157 ENST00000368931.3:c.*333T>C chr1.hg19:g.151019496T>C NA Q6DK43|Q8TCY7|Q8WYG2 hg19 CCDS978.2 0.02 3.645843 TGGxGCG COVERED NOVEL BNIPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085092.1 9 18.355022 KEEP 0 0 0 61 1908 TT 1 1 0 + 6 60 194 1 0 12.234016 101 70 2949 239 ENST00000368931.3 0.056075 1 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151091364 151091364 __UNKNOWN__ 3'UTR SNP C C T rs587598477 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151091364C>T ENST00000368918.3 + 0 2310 GABPB2_ENST00000368917.1_3'UTR NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) ctgcaacctccgcctccaggg 0.463 NA C||| 2 0.000399361 0 0 5008 , , NA 16340 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*632C>T chr1.hg19:g.151091364C>T NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 2.341547 CTCxGCC COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 23 12.264177 KEEP 0 0 0 41 1331 CC 1 1 0 + 6 60 179 0 1 10.179401 126 60 4120 250 ENST00000368918.3 0.045455 1 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151091538 151091538 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151091538A>G ENST00000368918.3 + 0 2484 GABPB2_ENST00000368917.1_3'UTR NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) tgtaatcccaacactttggga 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*806A>G chr1.hg19:g.151091538A>G NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 7.769767 CCAxCAC COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 38 12.140504 KEEP 1 3 111 79 2454 AA 1 1 0 + 11 60 371 0 0 23.185332 219 60 6480 463 ENST00000368918.3 0.047826 1 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151091836 151091836 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151091836A>G ENST00000368918.3 + 0 2782 GABPB2_ENST00000368917.1_3'UTR NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) tgtaatcccaacactttggga 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*1104A>G chr1.hg19:g.151091836A>G NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 3.584894 CCAxCAC COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 13 4.446881 KEEP 0 1 38 28 841 AA 0.999997 0.999997 0 + 6 60 203 0 0 12.718087 119 60 3364 235 ENST00000368918.3 0.048 1 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151092507 151092507 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151092507A>T ENST00000368918.3 + 0 3453 NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) accaacatggagaaaccctgt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*1775A>T chr1.hg19:g.151092507A>T NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 4.109437 TGGxGAA COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 30 9.763548 KEEP 0 1 33 44 1372 AA 1 1 0 + 7 60 205 0 0 10.954339 177 60 5160 323 ENST00000368918.3 0.038043 1 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151094189 151094189 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151094189T>C ENST00000368918.3 + 0 5135 NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) gctgggattataggcgtgagc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*3457T>C chr1.hg19:g.151094189T>C NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 1.731501 TTAxAGG COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 15 3.007851 KEEP 0 0 0 10 293 AT 0.993072 0.991548 0 + 7 60 241 0 0 17.903224 56 60 1524 105 ENST00000368918.3 0.111111 0.998465 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151094979 151094979 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151094979T>A ENST00000368918.3 + 0 5925 NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) TTTAGATATCTTTTATTTATG 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*4247T>A chr1.hg19:g.151094979T>A NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 -0.324437 ATCxTTT COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 0 4.212629 KEEP 0 0 0 14 437 TT 0.995343 0.831824 0 + 23 60 637 0 0 64.43643 13 60 387 58 ENST00000368918.3 0.638889 0.835716 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151095745 151095745 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151095745G>A ENST00000368918.3 + 0 6691 NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) cagcctggccgacatggcaaa 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*5013G>A chr1.hg19:g.151095745G>A NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 -0.157783 GCCxACA COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 4 3.009528 KEEP 2 0 0 10 332 GG 0.992708 0.320453 0 + 4 60 92 0 0 7.08221 13 60 414 36 ENST00000368918.3 0.235294 0.322807 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151095910 151095910 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151095910A>G ENST00000368918.3 + 0 6856 NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) cagcctgggcaatagagcgag 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*5178A>G chr1.hg19:g.151095910A>G NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 5.447628 GGCxATA COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 15 7.793913 KEEP 4 2 72 51 1605 AA 1 1 0 + 7 60 218 2 2 12.814851 146 60 4331 299 ENST00000368918.3 0.045752 1 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151095912 151095912 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151095912T>C ENST00000368918.3 + 0 6858 NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) gcctgggcaatagagcgagac 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*5180T>C chr1.hg19:g.151095912T>C NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 5.526021 CAAxAGA COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 16 6.316084 KEEP 4 3 88 52 1534 TT 1 1 0 + 18 60 584 2 2 43.438444 126 60 3451 323 ENST00000368918.3 0.125 1 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151096075 151096075 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151096075C>T ENST00000368918.3 + 0 7021 NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) acgcctgtaacctcagcactt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*5343C>T chr1.hg19:g.151096075C>T NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 9.693113 TAAxCTC COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 65 4.110299 KEEP 0 12 389 150 5216 CC 1 1 0 + 12 60 352 2 1 19.315077 276 60 9203 635 ENST00000368918.3 0.041667 1 SCNM1 79005 __UNKNOWN__ __UNKNOWN__ 1 151140066 151140066 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151140066T>G ENST00000368905.4 + 5 509 SCNM1_ENST00000461862.1_3'UTR NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634) enzyme binding (GO:0019899)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ccagcacttttggaggctgag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000264 CCDS987.1, CCDS55636.1 1q21.3 2012-03-13 ENSG00000163156 ENSG00000163156 79005 23136 protein-coding gene gene with protein product 608095 NA 12920299 Standard NM_024041 NM_024041 NA Approved MGC3180 uc001ewz.3 Q9BWG6 OTTHUMG00000012258 ENST00000368905.4:c.398+176T>G chr1.hg19:g.151140066T>G NA B4DWR1|Q5JR74 hg19 CCDS987.1 0.02 -0.263098 TTTxGGA COVERED NOVEL SCNM1-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034064.2 9 2.404882 KEEP 3 0 0 8 227 TT 0.99257 0.688515 0 + 3 60 96 0 0 6.99629 23 60 673 55 ENST00000368905.4 0.115385 0.693668 SCNM1 79005 __UNKNOWN__ __UNKNOWN__ 1 151140078 151140078 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151140078T>C ENST00000368905.4 + 5 509 SCNM1_ENST00000461862.1_3'UTR NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634) enzyme binding (GO:0019899)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) gaggctgaggtgggtggatca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000264 CCDS987.1, CCDS55636.1 1q21.3 2012-03-13 ENSG00000163156 ENSG00000163156 79005 23136 protein-coding gene gene with protein product 608095 NA 12920299 Standard NM_024041 NM_024041 NA Approved MGC3180 uc001ewz.3 Q9BWG6 OTTHUMG00000012258 ENST00000368905.4:c.398+188T>C chr1.hg19:g.151140078T>C NA B4DWR1|Q5JR74 hg19 CCDS987.1 0.02 -0.219258 AGGxGGG COVERED NOVEL SCNM1-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034064.2 6 2.407046 KEEP 2 0 0 8 244 TT 0.99257 0.54878 0 + 3 60 98 0 0 7.427281 19 60 561 46 ENST00000368905.4 0.136364 0.552887 SCNM1 79005 __UNKNOWN__ __UNKNOWN__ 1 151141802 151141802 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151141802G>C ENST00000368905.4 + 0 1045 NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634) enzyme binding (GO:0019899)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ctcactgcaagctctgcctcc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC000264 CCDS987.1, CCDS55636.1 1q21.3 2012-03-13 ENSG00000163156 ENSG00000163156 79005 23136 protein-coding gene gene with protein product 608095 NA 12920299 Standard NM_024041 NM_024041 NA Approved MGC3180 uc001ewz.3 Q9BWG6 OTTHUMG00000012258 ENST00000368905.4:c.*241G>C chr1.hg19:g.151141802G>C NA B4DWR1|Q5JR74 hg19 CCDS987.1 0.02 1.675721 CAAxCTC COVERED NOVEL SCNM1-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034064.2 8 9.295292 KEEP 0 0 0 31 1045 GG 0.999997 0.99716 0 + 7 60 212 0 0 14.856204 59 70 1916 111 ENST00000368905.4 0.106061 0.997163 SCNM1 79005 __UNKNOWN__ __UNKNOWN__ 1 151141806 151141806 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151141806T>C ENST00000368905.4 + 0 1049 NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634) enzyme binding (GO:0019899)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ctgcaagctctgcctcccagg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC000264 CCDS987.1, CCDS55636.1 1q21.3 2012-03-13 ENSG00000163156 ENSG00000163156 79005 23136 protein-coding gene gene with protein product 608095 NA 12920299 Standard NM_024041 NM_024041 NA Approved MGC3180 uc001ewz.3 Q9BWG6 OTTHUMG00000012258 ENST00000368905.4:c.*245T>C chr1.hg19:g.151141806T>C NA B4DWR1|Q5JR74 hg19 CCDS987.1 0.02 1.447391 CTCxGCC COVERED NOVEL SCNM1-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034064.2 7 5.750414 KEEP 0 1 31 30 921 TT 0.999997 0.990961 0 + 5 55 142 0 0 9.197817 53 70 1551 100 ENST00000368905.4 0.086207 0.990964 PI4KB 5298 __UNKNOWN__ __UNKNOWN__ 1 151274269 151274269 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151274269G>A ENST00000368874.4 - 7 2177 PI4KB_ENST00000271657.5_Intron|PI4KB_ENST00000368873.1_Intron|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368875.2_Intron|PI4KB_ENST00000368872.1_Intron NM_001198774.1 NP_001185703.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886) 1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524) breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) cggcctcccagagtgctggga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(154;765 1838 9854 28443 37492) NA 0 24 27 26 NA NA NA 1 NA NA 151274269 2203 4300 6503 SO:0001627 intron_variant AB005910 CCDS993.1, CCDS55637.1, CCDS55638.1 1q21 2008-02-05 2007-08-14 2007-08-02 ENSG00000143393 ENSG00000143393 5298 8984 protein-coding gene gene with protein product 602758 PIK4CB NA 9020160, 9405938 Standard NM_002651 NM_002651 NA Approved PI4K-BETA, pi4K92 uc001exu.3 Q9UBF8 OTTHUMG00000012348 ENST00000368874.4:c.1704+50C>T chr1.hg19:g.151274269G>A NA B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6 hg19 CCDS55638.1 0.02 1.491098 CCAxAGT COVERED NOVEL PI4KB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034401.4 7 5.109012 KEEP 0 0 0 17 572 GG 0.999366 0.981333 0 - 5 60 152 0 0 10.314167 50 60 1650 84 ENST00000368874.4 0.090909 0.981955 SNX27 81609 __UNKNOWN__ __UNKNOWN__ 1 151668998 151668998 __UNKNOWN__ 3'UTR SNP G G T rs45558435|rs138314639 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151668998G>T ENST00000368843.3 + 0 4628 SNX27_ENST00000458013.2_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 NA NA endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) tcgttctttcgttctttcttt 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(46;291 966 40145 41237 41888) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007957 CCDS1001.1 1q21.3 2008-03-11 ENSG00000143376 ENSG00000143376 81609 Sorting nexins 20073 protein-coding gene gene with protein product 611541 NA 12461558 Standard NM_030918 XM_005245509 NA Approved MY014, KIAA0488, MGC20471 uc001eyn.1 Q96L92 OTTHUMG00000013052 ENST00000368843.3:c.*2921G>T chr1.hg19:g.151668998G>T NA Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8 hg19 CCDS1001.1 0.02 4.972732 TTCxTTC COVERED NOVEL SNX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104568.1 40 27.036368 KEEP 0 0 0 90 2737 GG 1 1 0 + 10 60 271 1 1 15.353376 162 60 4759 289 ENST00000368843.3 0.05814 1 MRPL9 65005 __UNKNOWN__ __UNKNOWN__ 1 151732789 151732789 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151732789T>C ENST00000368830.3 - 7 757 MRPL9_ENST00000368829.3_Intron|MRPL9_ENST00000467306.1_Intron NM_031420.2 NP_113608.1 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) cacagtggcttatgcctgtaa 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026363 CCDS1003.1, CCDS72916.1 1q21 2012-09-13 ENSG00000143436 ENSG00000143436 65005 Mitochondrial ribosomal proteins / large subunits 14277 protein-coding gene gene with protein product 611824 NA Standard NM_031420 XM_005245455 NA Approved uc001eyv.3 Q9BYD2 OTTHUMG00000013063 ENST00000368830.3:c.673-132A>G chr1.hg19:g.151732789T>C NA B2RD99|Q5SZR2|Q9BSW8 hg19 CCDS1003.1 0.02 -0.37706 GCTxATG COVERED NOVEL MRPL9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000036653.2 6 2.708323 KEEP 1 0 0 9 283 TT 0.99254 0.902287 0 - 3 60 99 0 0 6.641044 39 60 1099 58 ENST00000368830.3 0.071429 0.909069 AL450992.2 0 __UNKNOWN__ __UNKNOWN__ 1 151818378 151818378 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:151818378G>A ENST00000434182.1 + 0 353 NA NA NA aattttttgtgtttttagtag 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000434182.1: chr1.hg19:g.151818378G>A NA hg19 0.02 0.925296 TGTxTTT COVERED NOVEL AL450992.2-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000036680.1 11 3.611704 KEEP 0 0 0 12 418 GG 0.993634 0.993596 0 + 7 60 172 0 0 9.649814 91 60 3033 144 ENST00000434182.1 0.071429 0.999962 FLG 2312 __UNKNOWN__ __UNKNOWN__ 1 152274952 152274952 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:152274952C>A ENST00000368799.1 - 0 12445 FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin NA NA establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAAGTTAGCTCTCCATGATAT 0.289 NA Ichthyosis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312 EF-hand domain containing 3748 protein-coding gene gene with protein product 135940 NA 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 NA Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.*224G>T chr1.hg19:g.152274952C>A NA Q01720|Q5T583|Q9UC71 hg19 CCDS30860.1 0.02 1.284833 GCTxTCC COVERED NOVEL FLG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033742.1 1 11.437377 KEEP 0 0 0 38 1347 CC 1 0.984161 0 - 28 60 793 0 0 75.492847 29 60 979 136 ENST00000368799.1 0.491228 0.984161 FLG 2312 __UNKNOWN__ __UNKNOWN__ 1 152285137 152285137 __UNKNOWN__ Missense_Mutation SNP G G T rs3120654 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:152285137G>T ENST00000368799.1 - 3 2260 c.2225C>A c.(2224-2226)tCc>tAc p.S742Y FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 742 Ser-rich. NA S -> Y (in dbSNP:rs3120654). establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTACCACTGGACCCTCGGTG 0.587 NA Ichthyosis -||| 606 0.121006 0.4009 0.0317 5008 , , NA 20663 0.0496 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G TYR/SER 1475,2931 245,985,973 359 372 367 NA 2225 3.2 0 1 dbSNP_103 367 19,8581 0,19,4281 no missense FLG NM_002016.1 144 245,1004,5254 TT,TG,GG NA 0.2209,33.4771,11.487 benign 742/4062 152285137 1494,11512 2203 4300 6503 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312 EF-hand domain containing 3748 protein-coding gene gene with protein product 135940 NA 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 NA Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.2225C>A chr1.hg19:g.152285137G>T ENSP00000357789:p.Ser742Tyr NA Q01720|Q5T583|Q9UC71 hg19 CCDS30860.1 0.02 2.282522 CTGxACC COVERED 197 0.0902014652014652 156 0.3170731707317073 17 0.04696132596685083 23 0.04020979020979021 1 0.0013192612137203166 - 6.498 0.460047 0.12342 0.334771 0.002209 ENSG00000143631 ENST00000368799 T 0.09073 3.02 4.17 3.25 0.37280 . . . . . T 0.04815 0.0130 L 0.39397 1.21 0.80722 P 0.0 D 0.71674 0.998 D 0.64144 0.922 T 0.04991 -1.0913 8 0.02654 T 1 -2.0E-4 7.4925 0.27471 0.1191:0.0:0.8809:0.0 . 742 P20930 FILA_HUMAN Y 742 ENSP00000357789:S742Y ENSP00000357789:S742Y S - 2 0 FLG 150551761 0.004000 0.15560 0.003000 0.11579 0.002000 0.02628 1.429000 0.34903 0.971000 0.38288 0.485000 0.47835 TCC NOVEL FLG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033742.1 5 14.445346 KEEP 5 1 31 59 1943 GG 1 1 0 - 7 22 202 0 0 11.32558 141 60 4558 285 ENST00000368799.1 0.047297 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 153529478 153529478 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:153529478T>C NA NA S100A4 (6866 upstream) : S100A2 (4105 downstream) NA NA NA tgtctgtaattccagcacttt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.153529478T>C NA hg19 0.02 -0.4034 AATxCCA COVERED NOVEL 0 8 2.708193 KEEP 0 0 0 9 281 TT 0.99254 0.927521 0 3 60 102 0 0 6.847328 42 60 1216 81 0.066667 0.934492 ILF2 3608 __UNKNOWN__ __UNKNOWN__ 1 153639932 153639932 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:153639932C>G ENST00000361891.4 - 6 520 ILF2_ENST00000368681.1_3'UTR NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 NA NA immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740) cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) tccagcctggccaacggaggg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U10323 CCDS1050.1, CCDS72919.1 1q21.3 2012-12-04 2012-12-04 ENSG00000143621 ENSG00000143621 3608 6037 protein-coding gene gene with protein product 603181 interleukin enhancer binding factor 2, 45kD, interleukin enhancer binding factor 2, 45kDa NA 7519613 Standard NM_004515 NM_004515 NA Approved NF45 uc001fcr.4 Q12905 OTTHUMG00000037087 ENST00000361891.4:c.394+98G>C chr1.hg19:g.153639932C>G NA A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0 hg19 CCDS1050.1 0.02 7.412179 TGGxCAA COVERED NOVEL ILF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090040.1 26 28.290502 KEEP 0 0 0 94 3326 CC 1 1 0 - 8 60 244 1 0 13.916346 207 60 7047 465 ENST00000361891.4 0.037209 1 ILF2 3608 __UNKNOWN__ __UNKNOWN__ 1 153642187 153642187 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:153642187A>G ENST00000361891.4 - 3 234 ILF2_ENST00000368681.1_Intron NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 NA NA immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740) cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) caaagtgctgagattacaggc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U10323 CCDS1050.1, CCDS72919.1 1q21.3 2012-12-04 2012-12-04 ENSG00000143621 ENSG00000143621 3608 6037 protein-coding gene gene with protein product 603181 interleukin enhancer binding factor 2, 45kD, interleukin enhancer binding factor 2, 45kDa NA 7519613 Standard NM_004515 NM_004515 NA Approved NF45 uc001fcr.4 Q12905 OTTHUMG00000037087 ENST00000361891.4:c.108+124T>C chr1.hg19:g.153642187A>G NA A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0 hg19 CCDS1050.1 0.02 3.696194 CTGxGAT COVERED NOVEL ILF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090040.1 14 7.293668 KEEP 2 2 71 49 1573 AA 1 0.999995 0 - 6 60 199 0 0 12.8109 98 60 2906 218 ENST00000361891.4 0.057692 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 153646852 153646852 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:153646852T>C NA NA ILF2 (3328 upstream) : NPR1 (4260 downstream) NA NA NA cttggcctcctaaagtgctgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.153646852T>C NA hg19 0.02 -0.429748 TCCxAAA COVERED NOVEL 0 8 2.406637 KEEP 2 0 0 8 234 TT 0.99257 0.952727 0 3 60 102 0 0 6.908429 40 60 1171 94 0.069767 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 153695668 153695668 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:153695668T>C NA NA RN7SL372P (18809 upstream) : Y_RNA (3059 downstream) NA NA NA aggctggtcttgaactcctga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.153695668T>C NA hg19 0.02 -0.41213 TCTxGAA COVERED NOVEL 0 10 3.006836 KEEP 2 0 0 10 284 TT 0.992708 0.941486 0 3 26 95 0 0 6.308006 37 60 1027 74 0.075 0.948402 DENND4B 9909 __UNKNOWN__ __UNKNOWN__ 1 153909386 153909386 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:153909386T>C ENST00000361217.4 - 16 2651 NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B NA NA positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483) Golgi apparatus (GO:0005794)|nucleus (GO:0005634) Rab guanyl-nucleotide exchange factor activity (GO:0017112) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ctcaagcgattctcccacctc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007945 CCDS44228.1 1q21.3 2012-10-03 2006-01-27 2006-01-27 ENSG00000198837 ENSG00000198837 9909 DENN/MADD domain containing 29044 protein-coding gene gene with protein product KIAA0476 KIAA0476 NA 9455484, 12906859 Standard XM_375806 NM_014856 NA Approved uc001fdd.1 O75064 OTTHUMG00000037157 ENST00000361217.4:c.2233-162A>G chr1.hg19:g.153909386T>C NA Q5T4K0 hg19 CCDS44228.1 0.02 -0.350327 GATxCTC COVERED NOVEL DENND4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090278.2 0 5.114541 KEEP 0 0 0 17 518 TT 0.999366 0.877152 0 - 5 60 156 0 0 11.447426 35 60 991 61 ENST00000361217.4 0.125 0.877708 RAB13 5872 __UNKNOWN__ __UNKNOWN__ 1 153955595 153955595 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:153955595T>C ENST00000368575.3 - 4 440 RAB13_ENST00000462680.1_5'UTR NM_002870.2 NP_002861.1 P51153 RAB13_HUMAN RAB13, member RAS oncogene family NA NA cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1) 11 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gagcaaaacttcatctcaaaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(138;395 2427 24306 43415) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X75593 CCDS1058.1, CCDS72921.1 1q21.2 2008-02-05 ENSG00000143545 ENSG00000143545 5872 RAB, member RAS oncogene 9762 protein-coding gene gene with protein product 602672 NA 8294494 Standard NM_002870 NM_002870 NA Approved uc001fdt.2 P51153 OTTHUMG00000036589 ENST00000368575.3:c.324+99A>G chr1.hg19:g.153955595T>C NA A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4 hg19 CCDS1058.1 0.02 9.140104 ACTxCAT COVERED NOVEL RAB13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088992.1 40 12.135278 KEEP 1 3 108 78 2297 TT 1 1 0 - 8 60 273 2 0 16.128253 217 60 6009 501 ENST00000368575.3 0.035556 1 NUP210L 91181 __UNKNOWN__ __UNKNOWN__ 1 153968507 153968507 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:153968507A>G ENST00000368559.3 - 38 5458 NUP210L_ENST00000271854.3_Intron|NUP210L_ENST00000368553.1_Intron NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like NA NA Sertoli cell development (GO:0060009)|spermatid development (GO:0007286) integral component of membrane (GO:0016021) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ggtggctcacacctgtaatcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125924 CCDS41399.1, CCDS53370.1 1q21.3 2008-02-05 ENSG00000143552 ENSG00000143552 91181 29915 protein-coding gene gene with protein product NA Standard NM_207308 NM_207308 NA Approved uc001fdw.3 Q5VU65 OTTHUMG00000035852 ENST00000368559.3:c.5387-851T>C chr1.hg19:g.153968507A>G NA E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31 hg19 CCDS41399.1 0.02 -0.157869 CACxCCT COVERED NOVEL NUP210L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087270.3 7 2.406696 KEEP 1 0 0 8 234 AA 0.99257 0.320408 0 - 3 40 86 0 0 6.679431 13 60 387 41 ENST00000368559.3 0.1875 0.322807 NUP210L 91181 __UNKNOWN__ __UNKNOWN__ 1 154072666 154072666 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:154072666T>C ENST00000368559.3 - 14 1891 NUP210L_ENST00000271854.3_Intron NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like NA NA Sertoli cell development (GO:0060009)|spermatid development (GO:0007286) integral component of membrane (GO:0016021) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) tggctcaggcttgtaatccca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 50 48 48 NA NA NA 1 NA NA 154072666 1891 4112 6003 SO:0001627 intron_variant AK125924 CCDS41399.1, CCDS53370.1 1q21.3 2008-02-05 ENSG00000143552 ENSG00000143552 91181 29915 protein-coding gene gene with protein product NA Standard NM_207308 NM_207308 NA Approved uc001fdw.3 Q5VU65 OTTHUMG00000035852 ENST00000368559.3:c.1820-47A>G chr1.hg19:g.154072666T>C NA E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31 hg19 CCDS41399.1 0.02 1.7778 GGCxTGT COVERED NOVEL NUP210L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087270.3 7 8.125105 KEEP 0 0 0 27 881 TT 0.999988 0.999305 0 - 4 60 139 0 0 9.178779 65 60 1967 119 ENST00000368559.3 0.057971 0.999317 C1orf189 388701 __UNKNOWN__ __UNKNOWN__ 1 154178208 154178208 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:154178208T>C ENST00000368525.3 - 2 59 NM_001010979.1 NP_001010979.1 Q5VU69 CA189_HUMAN chromosome 1 open reading frame 189 NA NA kidney(1)|large_intestine(3)|lung(1)|skin(2) 7 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) gagacagagttttgctcttgt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS30876.1 1q21.3 2012-07-27 ENSG00000163263 ENSG00000163263 388701 32305 protein-coding gene gene with protein product NA Standard NM_001010979 NM_001010979 NA Approved uc001fee.2 Q5VU69 OTTHUMG00000035982 ENST00000368525.3:c.34-94A>G chr1.hg19:g.154178208T>C NA A1L4E3 hg19 CCDS30876.1 0.02 1.564185 AGTxTTG COVERED NOVEL C1orf189-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087672.1 10 9.026266 KEEP 0 0 0 30 958 TT 0.999997 0.999904 0 - 4 60 137 0 0 8.672133 78 70 2313 159 ENST00000368525.3 0.04878 0.999907 HAX1 10456 __UNKNOWN__ __UNKNOWN__ 1 154246522 154246522 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:154246522G>A ENST00000328703.7 + 3 717 HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Intron|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 NA NA cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214) actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667) interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485) cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ggtggctcacgcctgtaatcc 0.542 NA Kostmann syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis U68566 CCDS1064.1, CCDS44230.1 1q21.3 2014-09-17 ENSG00000143575 ENSG00000143575 10456 16915 protein-coding gene gene with protein product HCLS1 (and PKD2) associated protein 605998 NA 9058808, 10760273 Standard NM_006118 NM_006118 NA Approved HS1BP1, HCLSBP1 uc001fes.3 O00165 OTTHUMG00000035978 ENST00000328703.7:c.504+85G>A chr1.hg19:g.154246522G>A NA A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80 hg19 CCDS1064.1 0.02 0.906591 CACxCCT COVERED NOVEL HAX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087650.1 7 18.05542 KEEP 0 0 0 60 2034 GG 1 0.999218 0 + 5 60 139 0 0 8.548913 63 60 1966 156 ENST00000328703.7 0.073529 0.999218 IL6R 3570 __UNKNOWN__ __UNKNOWN__ 1 154409996 154409996 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:154409996C>T ENST00000368485.3 + 6 1386 IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_Intron NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor NA NA acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097) apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886) ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803) IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) Tocilizumab(DB06273) ttcaagcaatcctcccgcctc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X12830 CCDS1067.1, CCDS1068.1, CCDS72927.1 1q21 2013-01-11 ENSG00000160712 ENSG00000160712 3570 Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6019 protein-coding gene gene with protein product 147880 NA Standard NM_000565 NM_000565 NA Approved CD126 uc001fez.2 P08887 OTTHUMG00000036073 ENST00000368485.3:c.949+1410C>T chr1.hg19:g.154409996C>T NA A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23 hg19 CCDS1067.1 0.02 4.794517 AATxCTC COVERED NOVEL IL6R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087911.1 16 10.569593 KEEP 0 1 34 47 1638 CC 1 1 0 + 8 60 228 0 0 13.207993 137 60 4441 249 ENST00000368485.3 0.055172 1 IL6R 3570 __UNKNOWN__ __UNKNOWN__ 1 154410001 154410001 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:154410001C>T ENST00000368485.3 + 6 1386 IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_Intron NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor NA NA acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097) apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886) ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803) IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) Tocilizumab(DB06273) gcaatcctcccgcctcagcct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X12830 CCDS1067.1, CCDS1068.1, CCDS72927.1 1q21 2013-01-11 ENSG00000160712 ENSG00000160712 3570 Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6019 protein-coding gene gene with protein product 147880 NA Standard NM_000565 NM_000565 NA Approved CD126 uc001fez.2 P08887 OTTHUMG00000036073 ENST00000368485.3:c.949+1415C>T chr1.hg19:g.154410001C>T NA A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23 hg19 CCDS1067.1 0.02 2.78327 TCCxGCC COVERED NOVEL IL6R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087911.1 15 6.990134 KEEP 0 2 62 45 1471 CC 1 1 0 + 8 60 231 0 0 13.6799 130 60 4041 236 ENST00000368485.3 0.057971 1 SHE 126669 __UNKNOWN__ __UNKNOWN__ 1 154456435 154456435 __UNKNOWN__ 3'UTR SNP T T C rs183030366 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:154456435T>C ENST00000304760.2 - 0 1764 NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E NA NA breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) gattgcgccattgcactccag 0.498 NA T||| 1 0.000199681 0 0 5008 , , NA 20468 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074067 CCDS30877.1 1q21.3 2013-02-14 ENSG00000169291 ENSG00000169291 126669 SH2 domain containing 27004 protein-coding gene gene with protein product 610482 NA 9315092 Standard NM_001010846 NM_001010846 NA Approved uc001ffb.3 Q5VZ18 OTTHUMG00000036072 ENST00000304760.2:c.*190A>G chr1.hg19:g.154456435T>C NA Q8TEQ5 hg19 CCDS30877.1 0.02 3.889195 CCAxTGC COVERED NOVEL SHE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087910.2 14 5.115697 KEEP 1 0 0 17 539 TT 0.999366 0.999366 0 - 7 60 242 0 0 16.091733 108 60 3081 177 ENST00000304760.2 0.06087 0.999999 ADAM15 8751 __UNKNOWN__ __UNKNOWN__ 1 155032217 155032217 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155032217C>T ENST00000356955.2 + 17 2096 ADAM15_ENST00000449910.2_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000472434.1_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000359280.4_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000360674.4_Intron NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 NA NA angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246) cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) ttagtttgatCTAATTTGCTC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U46005 CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1 1q21.3 2008-02-05 2007-06-04 ENSG00000143537 ENSG00000143537 8751 ADAM metallopeptidase domain containing 193 protein-coding gene gene with protein product metargidin 605548 a disintegrin and metalloproteinase domain 15 (metargidin) NA 9516430 Standard NM_003815 NM_003815 NA Approved MDC15 uc001fgr.2 Q13444 OTTHUMG00000013898 ENST00000356955.2:c.1996-161C>T chr1.hg19:g.155032217C>T NA B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5 hg19 CCDS1087.1 0.02 -0.403493 GATxTAA COVERED NOVEL ADAM15-019 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000387168.1 3 5.718287 KEEP 0 0 0 19 641 CC 0.99986 0.934361 0 + 4 60 108 0 0 6.815939 42 60 1363 83 ENST00000356955.2 0.086957 0.934492 TRIM46 80128 __UNKNOWN__ __UNKNOWN__ 1 155155055 155155055 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155155055G>A ENST00000334634.4 + 9 1886 TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000368382.1_Intron|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_Intron|TRIM46_ENST00000368383.3_3'UTR|TRIM46_ENST00000392451.2_Intron NM_001256601.1|NM_001282378.1 NP_001243530.1|NP_001269307.1 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 NA NA intracellular (GO:0005622) zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ggtggctcacgcctgtaatcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1 1q22 2013-01-09 2011-01-25 ENSG00000163462 ENSG00000163462 80128 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 19019 protein-coding gene gene with protein product 600986 tripartite motif-containing 46 NA Standard NM_025058 NM_025058 NA Approved FLJ23229, TRIFIC uc001fhs.2 Q7Z4K8 OTTHUMG00000035680 ENST00000334634.4:c.1886+430G>A chr1.hg19:g.155155055G>A NA A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2 hg19 CCDS1097.1 0.02 4.065729 CACxCCT COVERED NOVEL TRIM46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086728.1 20 8.727713 KEEP 0 0 0 29 1023 GG 0.999997 0.999997 0 + 7 60 203 0 0 10.820127 173 60 5664 308 ENST00000334634.4 0.038889 1 TRIM46 80128 __UNKNOWN__ __UNKNOWN__ 1 155155082 155155082 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155155082T>C ENST00000334634.4 + 9 1886 TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000368382.1_Intron|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_Intron|TRIM46_ENST00000368383.3_3'UTR|TRIM46_ENST00000392451.2_Intron NM_001256601.1|NM_001282378.1 NP_001243530.1|NP_001269307.1 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 NA NA intracellular (GO:0005622) zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) tttgggaggctgaggcaggca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1 1q22 2013-01-09 2011-01-25 ENSG00000163462 ENSG00000163462 80128 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 19019 protein-coding gene gene with protein product 600986 tripartite motif-containing 46 NA Standard NM_025058 NM_025058 NA Approved FLJ23229, TRIFIC uc001fhs.2 Q7Z4K8 OTTHUMG00000035680 ENST00000334634.4:c.1886+457T>C chr1.hg19:g.155155082T>C NA A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2 hg19 CCDS1097.1 0.02 3.681036 GGCxGAG COVERED NOVEL TRIM46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086728.1 4 5.115532 KEEP 0 0 0 17 542 TT 0.999366 0.999366 0 + 9 60 277 0 0 18.264306 107 60 3165 169 ENST00000334634.4 0.077586 1 CLK2 1196 __UNKNOWN__ __UNKNOWN__ 1 155244557 155244557 __UNKNOWN__ Intron SNP A A G rs560859406 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155244557A>G ENST00000536801.1 - 1 173 P49760 CLK2_HUMAN CDC-like kinase 2 NA NA negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526) nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ttgggaggccaaggcgggcgg 0.547 NA Other conserved DNA damage response genes C||| 109 0.0217652 0.0794 0.0058 5008 , , NA 13804 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L29218 CCDS1107.1, CCDS72939.1 1q21 2008-05-02 ENSG00000176444 ENSG00000176444 1196 CDC-like kinases 2069 protein-coding gene gene with protein product 602989 NA 7990150, 9856501 Standard NM_003993 XM_005244876 NA Approved clk2 uc001fjw.3 P49760 OTTHUMG00000035873 ENST00000536801.1:c.0+2771T>C chr1.hg19:g.155244557A>G NA B1AVS9|B5MBX6|Q96CQ0 hg19 0.02 -0.227631 GCCxAGG COVERED NOVEL CLK2-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000087391.1 6 2.70814 KEEP 15 0 0 9 281 AA 0.99257 0.578599 0 - 3 60 92 0 0 6.598619 23 60 611 72 ENST00000536801.1 0.115385 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 155271888 155271888 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155271888G>A NA NA PKLR (663 upstream) : FDPS (6650 downstream) NA NA NA tcactctgtcgcccaggctgg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.155271888G>A NA hg19 0.02 -0.324563 GTCxCCC COVERED NOVEL 0 7 2.407968 KEEP 0 0 0 8 294 GG 0.99257 0.859313 0 3 60 91 1 0 6.443298 24 60 804 69 0.111111 0.865745 FDPS 2224 __UNKNOWN__ __UNKNOWN__ 1 155280381 155280381 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155280381T>C ENST00000356657.6 + 3 501 FDPS_ENST00000447866.1_Intron|FDPS_ENST00000368356.4_Intron|FDPS_ENST00000487002.1_Intron NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase NA NA cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634) dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) ggattacaggtgtgagccacc 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J05262 CCDS1110.1, CCDS44241.1, CCDS72940.1 1q22 2012-07-13 2010-06-24 ENSG00000160752 ENSG00000160752 2224 2.5.1.1, 2.5.1.10 3631 protein-coding gene gene with protein product farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase 134629 NA 1968462 Standard NM_002004 NM_002004 NA Approved uc001fkc.2 P14324 OTTHUMG00000013909 ENST00000356657.6:c.339+385T>C chr1.hg19:g.155280381T>C NA D3DV91|E9PCI9|Q96G29 hg19 CCDS1110.1 0.02 -0.385873 AGGxGTG COVERED NOVEL FDPS-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039053.1 8 4.210613 KEEP 2 0 0 14 410 TT 0.995343 0.913895 0 + 5 60 161 0 0 11.886248 36 60 1050 89 ENST00000356657.6 0.121951 0.918171 ASH1L 55870 __UNKNOWN__ __UNKNOWN__ 1 155315844 155315844 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155315844C>T ENST00000392403.3 - 21 8369 ASH1L_ENST00000368346.3_Intron NM_018489.2 NP_060959.2 Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) NA NA cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) aggctggtctcgaactcctga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037841 CCDS1113.2 1q22 2013-01-28 ENSG00000116539 ENSG00000116539 55870 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 19088 protein-coding gene gene with protein product 607999 NA 10860993, 16545939 Standard NM_018489 NM_018489 NA Approved huASH1, ASH1, ASH1L1, KMT2H uc001fkt.3 Q9NR48 OTTHUMG00000014011 ENST00000392403.3:c.7890+329G>A chr1.hg19:g.155315844C>T NA Q59GP1|Q5T714|Q5T715|Q9P2C7 hg19 CCDS1113.2 0.02 1.383486 TCTxGAA COVERED NOVEL ASH1L-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000039401.2 4 6.621497 KEEP 0 0 0 22 768 CC 0.999879 0.986034 0 - 5 60 135 0 0 8.668946 49 60 1560 93 ENST00000392403.3 0.092593 0.986153 ASH1L 55870 __UNKNOWN__ __UNKNOWN__ 1 155351083 155351083 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155351083T>C ENST00000392403.3 - 8 6582 ASH1L_ENST00000368346.3_Intron NM_018489.2 NP_060959.2 Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) NA NA cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) cagtggctcatgcctgtaatc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037841 CCDS1113.2 1q22 2013-01-28 ENSG00000116539 ENSG00000116539 55870 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 19088 protein-coding gene gene with protein product 607999 NA 10860993, 16545939 Standard NM_018489 NM_018489 NA Approved huASH1, ASH1, ASH1L1, KMT2H uc001fkt.3 Q9NR48 OTTHUMG00000014011 ENST00000392403.3:c.6104-1176A>G chr1.hg19:g.155351083T>C NA Q59GP1|Q5T714|Q5T715|Q9P2C7 hg19 CCDS1113.2 0.02 -0.280658 TCAxGCC COVERED NOVEL ASH1L-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000039401.2 8 2.407366 KEEP 0 0 0 8 251 TT 0.99257 0.734176 0 - 3 60 99 0 0 7.097931 27 60 802 63 ENST00000392403.3 0.1 0.739671 ASH1L 55870 __UNKNOWN__ __UNKNOWN__ 1 155416652 155416652 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155416652T>C ENST00000392403.3 - 5 5565 ASH1L_ENST00000368346.3_Intron NM_018489.2 NP_060959.2 Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) NA NA cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) cttcggcctctcaaagtgctg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037841 CCDS1113.2 1q22 2013-01-28 ENSG00000116539 ENSG00000116539 55870 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 19088 protein-coding gene gene with protein product 607999 NA 10860993, 16545939 Standard NM_018489 NM_018489 NA Approved huASH1, ASH1, ASH1L1, KMT2H uc001fkt.3 Q9NR48 OTTHUMG00000014011 ENST00000392403.3:c.5087-7793A>G chr1.hg19:g.155416652T>C NA Q59GP1|Q5T714|Q5T715|Q9P2C7 hg19 CCDS1113.2 0.02 -0.280669 CTCxCAA COVERED NOVEL ASH1L-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000039401.2 3 2.407089 KEEP 1 0 0 8 252 TT 0.99257 0.734176 0 - 3 60 103 0 0 7.54391 26 60 779 62 ENST00000392403.3 0.103448 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 155556582 155556582 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155556582T>A NA NA ASH1L-AS1 (22847 upstream) : RP11-29H23.4 (22984 downstream) NA NA NA tctgtcaccctggctggagcg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.155556582T>A NA hg19 0.02 2.740678 CCCxGGC COVERED NOVEL 0 4 8.952476 KEEP 0 1 32 41 1239 TT 1 0.999998 0 7 60 199 1 0 12.122456 97 60 2896 178 0.067308 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 155572263 155572263 __UNKNOWN__ IGR SNP A A G rs200767776 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155572263A>G NA NA ASH1L-AS1 (38528 upstream) : RP11-29H23.4 (7303 downstream) NA NA NA gcgaaactccatctcaaaaca 0.512 NA A||| 3 0.000599042 0 0 5008 , , NA 19084 0.003 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.155572263A>G NA hg19 0.02 1.815433 TCCxTCT COVERED NOVEL 0 7 4.212931 KEEP 1 0 0 14 444 AA 0.995343 0.96943 0 5 60 166 1 0 12.171245 40 60 1165 92 0.111111 0.973965 MSTO1 55154 __UNKNOWN__ __UNKNOWN__ 1 155619224 155619224 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155619224G>A ENST00000452804.2 + 6 621 MSTO1_ENST00000538143.1_Intron Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator NA NA mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005) cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741) breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) ttgtatttttggtagagacag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537684 CCDS1114.1 1q22 2013-08-21 2013-08-21 ENSG00000125459 ENSG00000125459 55154 29678 protein-coding gene gene with protein product misato homolog 1 (Drosophila) NA 16545939, 17349998 Standard NM_018116 NM_018116 NA Approved FLJ10504, LST005, MST, misato uc001fky.4 Q9BUK6 OTTHUMG00000014014 ENST00000452804.2:c.560+37606G>A chr1.hg19:g.155619224G>A NA Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4 hg19 0.02 -0.210442 TTTxGTA COVERED NOVEL MSTO1-201 KNOWN basic protein_coding NA protein_coding 2 2.40758 KEEP 0 0 0 8 273 GG 0.99257 0.518282 0 + 4 60 90 0 0 6.301375 19 60 627 34 ENST00000452804.2 0.173913 0.522161 DAP3 7818 __UNKNOWN__ __UNKNOWN__ 1 155701036 155701036 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155701036C>T ENST00000368336.5 + 10 967 MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Intron|DAP3_ENST00000471642.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Intron|DAP3_ENST00000343043.3_Intron NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 NA NA apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190) mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935) poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) ccagcctgggcgacagagcga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X83544 CCDS1120.1, CCDS55646.1, CCDS55647.1 1q22 2012-11-14 ENSG00000132676 ENSG00000132676 7818 Mitochondrial ribosomal proteins / small subunits 2673 protein-coding gene gene with protein product mitochondrial 28S ribosomal protein S29 602074 NA 7499268, 9284927 Standard NM_004632 NM_004632 NA Approved MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159 uc001flr.3 P51398 OTTHUMG00000035439 ENST00000368336.5:c.844-111C>T chr1.hg19:g.155701036C>T NA B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20 hg19 CCDS1120.1 0.02 3.741732 GGGxGAC COVERED NOVEL DAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086042.1 20 14.377339 KEEP 0 1 13 53 1758 CC 1 1 0 + 7 60 191 2 1 10.390697 134 60 4380 329 ENST00000368336.5 0.049645 1 GON4L 54856 __UNKNOWN__ __UNKNOWN__ 1 155733245 155733245 __UNKNOWN__ Silent SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155733245C>T ENST00000437809.1 - 22 4706 c.4584G>A c.(4582-4584)gaG>gaA p.E1528E GON4L_ENST00000368331.1_Silent_p.E1528E|GON4L_ENST00000271883.5_Silent_p.E1528E NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1528 Glu-rich. NA regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) p.E1528E(2) NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) cttcttcttcctcctcttctt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - coding silent(2) endometrium(2) 35 35 35 NA NA NA 1 NA NA 155733245 1944 4157 6101 SO:0001819 synonymous_variant AB046826 CCDS1121.1, CCDS44242.1, CCDS60296.1 1q22 2013-10-31 2006-11-08 2006-02-16 ENSG00000116580 ENSG00000116580 54856 25973 protein-coding gene gene with protein product 610393 gon-4 homolog (C.elegans) GON4 NA 16545939, 21454521 Standard NM_032292 XM_005245283 NA Approved FLJ20203, GON-4 uc001fly.1 Q3T8J9 OTTHUMG00000014106 ENST00000437809.1:c.4584G>A chr1.hg19:g.155733245C>T NA B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6 hg19 CCDS44242.1 0.02 2.857815 TTCxTCC COVERED NOVEL GON4L-019 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340937.1 2 7.694016 KEEP 1 2 64 48 1665 CC 1 0.999998 0 - 20 53 538 1 0 40.137364 97 60 3138 205 ENST00000437809.1 0.17094 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 155867023 155867023 __UNKNOWN__ IGR SNP T T C rs531525108 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155867023T>C NA NA RNU4-19P (2846 upstream) : RIT1 (575 downstream) NA NA NA tttgggaggctgaggcgggtg 0.458 NA T||| 1 0.000199681 0 0 5008 , , NA 16818 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.155867023T>C NA hg19 0.02 -0.315737 GGCxGAG COVERED NOVEL 0 5 2.708376 KEEP 0 0 0 9 289 TT 0.99254 0.812359 0 4 60 131 0 0 9.662737 30 60 905 71 0.117647 0.818465 RIT1 6016 __UNKNOWN__ __UNKNOWN__ 1 155871736 155871736 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155871736A>G ENST00000368323.3 - 6 634 RIT1_ENST00000368322.3_Intron|RIT1_ENST00000539040.1_Intron NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 NA NA GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) plasma membrane (GO:0005886) calmodulin binding (GO:0005516)|GTP binding (GO:0005525) breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) gtgaaaccccatctctactaa 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF084462 CCDS1123.1, CCDS58037.1, CCDS58036.1 1q21.2 2014-05-09 2002-09-11 2002-09-13 ENSG00000143622 ENSG00000143622 6016 10023 protein-coding gene gene with protein product Ric-like, expressed in many tissues, GTP-binding protein Roc1 609591 Ric (Drosophila)-like, expressed in many tissues RIT NA 8824319, 8918462 Standard NM_006912 NM_006912 NA Approved RIBB, ROC1, MGC125864, MGC125865 uc031pqc.1 Q92963 OTTHUMG00000014104 ENST00000368323.3:c.430-1327T>C chr1.hg19:g.155871736A>G NA B4DQE8|O00646|O00720|Q5VY89|Q5VY90 hg19 CCDS1123.1 0.02 5.914854 CCCxTCT COVERED NOVEL RIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039593.1 21 8.497076 KEEP 0 2 74 54 1701 AA 1 1 0 - 8 60 269 0 0 17.5654 126 60 3709 270 ENST00000368323.3 0.059701 1 KIAA0907 22889 __UNKNOWN__ __UNKNOWN__ 1 155885545 155885545 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155885545A>G ENST00000368321.3 - 13 1669 KIAA0907_ENST00000368320.3_3'UTR NM_014949.2 NP_055764.2 Q7Z7F0 K0907_HUMAN KIAA0907 NA NA RNA binding (GO:0003723) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) tgatctgcccacctcggcctc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC062637 CCDS30885.1 1q22 2012-11-30 ENSG00000132680 ENSG00000132680 22889 29145 protein-coding gene gene with protein product NA 10048485 Standard NM_014949 NM_014949 NA Approved BLOM7 uc001fmi.1 Q7Z7F0 OTTHUMG00000014103 ENST00000368321.3:c.1645+118T>C chr1.hg19:g.155885545A>G NA O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0 hg19 CCDS30885.1 0.02 9.386151 CCCxCCT COVERED NOVEL KIAA0907-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039583.1 23 32.354548 KEEP 2 3 88 139 4270 AA 1 1 0 - 10 60 321 1 0 18.811597 232 60 6846 525 ENST00000368321.3 0.041322 1 KIAA0907 22889 __UNKNOWN__ __UNKNOWN__ 1 155885578 155885578 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:155885578G>A ENST00000368321.3 - 13 1669 KIAA0907_ENST00000368320.3_3'UTR NM_014949.2 NP_055764.2 Q7Z7F0 K0907_HUMAN KIAA0907 NA NA RNA binding (GO:0003723) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gattacaggcgtgagccactg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC062637 CCDS30885.1 1q22 2012-11-30 ENSG00000132680 ENSG00000132680 22889 29145 protein-coding gene gene with protein product NA 10048485 Standard NM_014949 NM_014949 NA Approved BLOM7 uc001fmi.1 Q7Z7F0 OTTHUMG00000014103 ENST00000368321.3:c.1645+85C>T chr1.hg19:g.155885578G>A NA O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0 hg19 CCDS30885.1 0.02 10.19388 GGCxTGA COVERED NOVEL KIAA0907-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039583.1 64 44.917871 KEEP 1 3 95 183 6123 GG 1 1 0 - 14 60 420 1 0 23.025175 346 60 11323 847 ENST00000368321.3 0.038889 1 SEMA4A 64218 __UNKNOWN__ __UNKNOWN__ 1 156136822 156136822 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:156136822A>G ENST00000368285.3 + 10 1401 SEMA4A_ENST00000368282.1_Intron|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000355014.2_Intron|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000487358.1_Intron NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872) breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) ctcctgagtaactagaactac 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022416 CCDS1132.1, CCDS53378.1 1q22 2014-01-28 ENSG00000196189 ENSG00000196189 64218 Semaphorins 10729 protein-coding gene gene with protein product 607292 SEMAB NA 7748561 Standard NM_022367 NM_022367 NA Approved SemB, FLJ12287, CORD10 uc009wrq.3 Q9H3S1 OTTHUMG00000014042 ENST00000368285.3:c.1134+3937A>G chr1.hg19:g.156136822A>G NA B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9 hg19 CCDS1132.1 0.02 -0.201726 GTAxCTA UNCOVERED NOVEL SEMA4A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039484.2 6 2.407358 KEEP 2 0 0 8 256 AA 0 0 0 + 3 60 102 0 0 7.764841 20 60 597 44 ENST00000368285.3 0.130435 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 156151299 156151299 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:156151299T>G NA NA SEMA4A (3756 upstream) : SNORA26 (10554 downstream) NA NA NA tgtgtagaaataagtaggcat 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.156151299T>G NA hg19 0.02 -0.315722 AAAxAAG COVERED NOVEL 0 0 2.407271 KEEP 0 0 0 8 248 TT 0.99257 0.812384 0 3 60 101 0 0 7.126679 31 60 897 62 0.088235 0.818465 CCT3 7203 __UNKNOWN__ __UNKNOWN__ 1 156294691 156294691 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:156294691G>T ENST00000295688.3 - 6 703 CCT3_ENST00000472765.2_Intron|CCT3_ENST00000368259.2_Intron|CCT3_ENST00000368261.3_Intron NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) NA NA 'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457) cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082) endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) gtgctgggatgacagccatga 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008019 CCDS1140.2, CCDS30888.1 1q23 2011-09-02 ENSG00000163468 ENSG00000163468 7203 Heat Shock Proteins / Chaperonins 1616 protein-coding gene gene with protein product 600114 TRIC5 NA 8110840 Standard NM_005998 NM_005998 NA Approved Cctg uc001fol.2 P49368 OTTHUMG00000024061 ENST00000295688.3:c.422+71C>A chr1.hg19:g.156294691G>T NA A6NE14|Q5SZY1|Q9BR64 hg19 CCDS1140.2 0.02 1.129029 GATxACA COVERED NOVEL CCT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060602.3 8 9.931569 KEEP 0 0 0 33 1161 GG 0.999998 0.999724 0 - 5 60 134 0 0 7.73812 73 60 2466 160 ENST00000295688.3 0.064103 0.999726 IQGAP3 128239 __UNKNOWN__ __UNKNOWN__ 1 156502960 156502960 __UNKNOWN__ Intron SNP T T C rs549394572 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:156502960T>C ENST00000361170.2 - 32 3987 NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 NA NA activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328) Ras GTPase activator activity (GO:0005099) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) cacacacacatacacacacac 0.547 NA T||| 2 0.000399361 0.0015 0 5008 , , NA 24971 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY253300 CCDS1144.1 1q21.3 2008-02-05 ENSG00000183856 ENSG00000183856 128239 20669 protein-coding gene gene with protein product NA Standard NM_178229 NM_178229 NA Approved uc001fpf.3 Q86VI3 OTTHUMG00000033114 ENST00000361170.2:c.3977-62A>G chr1.hg19:g.156502960T>C NA Q5T3H8 hg19 CCDS1144.1 0.02 1.704964 ACAxACA COVERED NOVEL IQGAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080657.1 6 5.150183 KEEP 0 1 37 30 905 TT 0.999997 0.999107 0 - 5 60 175 0 1 11.912283 70 60 1902 117 ENST00000361170.2 0.066667 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 156579772 156579772 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:156579772T>C NA NA GPATCH4 (8497 upstream) : RP11-284F21.11 (4761 downstream) NA NA NA ctttgggaggtcgaggtgggc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.156579772T>C NA hg19 0.02 -0.298153 AGGxCGA COVERED NOVEL 0 8 2.708611 KEEP 0 0 0 9 299 TT 0.99254 0.775233 0 3 60 99 0 0 7.098571 27 60 782 73 0.1 0.78106 ISG20L2 81875 __UNKNOWN__ __UNKNOWN__ 1 156692478 156692478 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:156692478T>C ENST00000313146.6 - 0 2507 ISG20L2_ENST00000368219.1_3'UTR|ISG20L2_ENST00000472824.2_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 NA NA ribosome biogenesis (GO:0042254) nucleus (GO:0005634) exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ctcactgcaatctccgcctcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095697 CCDS1153.1 1q23.1 2013-10-11 ENSG00000143319 ENSG00000143319 81875 25745 protein-coding gene gene with protein product 611930 NA 18065403 Standard NM_030980 NM_030980 NA Approved FLJ12671 uc001fps.1 Q9H9L3 OTTHUMG00000041301 ENST00000313146.6:c.*663A>G chr1.hg19:g.156692478T>C NA D3DVC6|Q64KA2 hg19 CCDS1153.1 0.02 5.784142 CAAxCTC COVERED NOVEL ISG20L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098969.1 18 9.628693 KEEP 0 0 0 32 989 TT 0.999997 0.999997 0 - 8 60 251 0 2 15.022806 158 60 4426 279 ENST00000313146.6 0.048193 1 PRCC 5546 __UNKNOWN__ __UNKNOWN__ 1 156744492 156744492 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:156744492A>T ENST00000271526.4 + 1 740 PRCC_ENST00000491853.1_Intron|PRCC_ENST00000353233.3_Intron NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) NA NA mitotic cell cycle checkpoint (GO:0007093) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) acgcctgtaaaccccgcactt 0.493 NA T TFE3 papillary renal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q21.1 5546 papillary renal cell carcinoma (translocation-associated) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99720 CCDS1157.1 1q21.1 2008-02-05 ENSG00000143294 ENSG00000143294 5546 9343 protein-coding gene gene with protein product 179755 NA 8872474 Standard NM_005973 NM_005973 NA Approved RCCP1 uc001fqa.3 Q92733 OTTHUMG00000041294 ENST00000271526.4:c.468+6461A>T chr1.hg19:g.156744492A>T NA A8K1F7|O00665|O00724|Q5SZ06 hg19 CCDS1157.1 0.02 -0.298087 TAAxCCC COVERED NOVEL PRCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098941.2 9 2.707989 KEEP 0 0 0 9 283 AA 0.99254 0.775233 0 + 4 60 113 0 0 8.16099 25 60 728 56 ENST00000271526.4 0.137931 0.78106 PRCC 5546 __UNKNOWN__ __UNKNOWN__ 1 156744496 156744496 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:156744496C>A ENST00000271526.4 + 1 740 PRCC_ENST00000491853.1_Intron|PRCC_ENST00000353233.3_Intron NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) NA NA mitotic cell cycle checkpoint (GO:0007093) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ctgtaaaccccgcactttggg 0.478 NA T TFE3 papillary renal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q21.1 5546 papillary renal cell carcinoma (translocation-associated) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99720 CCDS1157.1 1q21.1 2008-02-05 ENSG00000143294 ENSG00000143294 5546 9343 protein-coding gene gene with protein product 179755 NA 8872474 Standard NM_005973 NM_005973 NA Approved RCCP1 uc001fqa.3 Q92733 OTTHUMG00000041294 ENST00000271526.4:c.468+6465C>A chr1.hg19:g.156744496C>A NA A8K1F7|O00665|O00724|Q5SZ06 hg19 CCDS1157.1 0.02 -0.298243 CCCxGCA COVERED NOVEL PRCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098941.2 9 2.708404 KEEP 0 0 0 9 302 CC 0.99254 0.775233 0 + 4 60 119 0 0 8.758872 25 60 828 56 ENST00000271526.4 0.137931 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 156774922 156774922 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:156774922A>G NA NA PRCC (4315 upstream) : SH2D2A (1112 downstream) NA NA NA ggtggctcacacctgtaatcc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.156774922A>G NA hg19 0.02 -0.377094 CACxCCT COVERED NOVEL 0 6 3.609453 KEEP 0 0 0 12 341 AA 0.993634 0.903281 0 3 60 105 0 0 7.411427 34 60 977 76 0.081081 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 157028443 157028443 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:157028443A>G NA NA ARHGEF11 (13281 upstream) : ETV3L (33392 downstream) NA NA NA gtgaaaccccatctctactaa 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.157028443A>G NA hg19 0.02 -0.166624 CCCxTCT COVERED NOVEL 0 6 2.707715 KEEP 0 0 0 9 269 AA 0.99254 0.351306 0 3 60 94 1 0 7.673165 11 60 318 32 0.214286 0.353947 KIRREL 55243 __UNKNOWN__ __UNKNOWN__ 1 157993848 157993848 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:157993848T>C ENST00000360089.4 + 1 460 KIRREL_ENST00000368173.3_Intron|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000359209.6_Intron Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) NA NA excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) myosin binding (GO:0017022) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) agtgattctcttgccttagcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001707 CCDS1172.2, CCDS72952.1 1q21-q25 2013-01-29 ENSG00000183853 ENSG00000183853 55243 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 15734 protein-coding gene gene with protein product nephrin-like protein 1 607428 NA 12424224 Standard NM_018240 NM_001286349 NA Approved NEPH1 uc001frn.4 Q96J84 OTTHUMG00000022438 ENST00000360089.4:c.-132+30326T>C chr1.hg19:g.157993848T>C NA Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5 hg19 0.02 -0.105258 CTCxTGC UNCOVERED NOVEL KIRREL-002 PUTATIVE non_canonical_TEC|basic protein_coding NA protein_coding OTTHUMT00000058343.2 5 2.707918 KEEP 0 0 0 9 289 TT 0.99254 0.138789 0 + 4 60 133 0 0 12.077331 7 60 212 25 ENST00000360089.4 0.363636 0.139832 DCAF8 50717 __UNKNOWN__ __UNKNOWN__ 1 160233163 160233163 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:160233163T>C ENST00000556710.1 - 6 687 DCAF8_ENST00000608310.1_Intron Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 NA NA protein ubiquitination (GO:0016567) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634) cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 cctgtaatcctagcactttgg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093176 CCDS1200.1 1q22-q23 2013-01-09 2009-07-17 2009-07-17 ENSG00000132716 ENSG00000132716 50717 WD repeat domain containing, DDB1 and CUL4 associated factors 24891 protein-coding gene gene with protein product 615820 WD repeat domain 42A WDR42A NA 11401431 Standard NM_015726 NM_015726 NA Approved H326, FLJ35857 uc010pjb.1 Q5TAQ9 OTTHUMG00000031604 ENST00000556710.1:c.436+14757A>G chr1.hg19:g.160233163T>C NA D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00 hg19 0.02 3.604726 TCCxAGC COVERED . . . . . . . . . . T 3.368 -0.129008 0.06753 . . ENSG00000258465 ENST00000485079 T 0.01051 5.4 0.51 -1.02 0.10135 . . . . . T 0.00241 0.0007 . . . 0.09310 N 0.999994 . . . . . . T 0.40776 -0.9545 4 . . . . . . . . . . . G 193 ENSP00000450870:R193G . R - 1 2 RP11-574F21.3 158499787 . . 0.001000 0.08648 0.004000 0.04260 . . -1.760000 0.01312 -1.917000 0.00517 AGG NOVEL DCAF8-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000415203.1 12 12.726403 KEEP 2 1 36 55 1646 TT 1 0.999994 0 - 5 60 165 1 0 10.432919 88 60 2492 192 ENST00000556710.1 0.053763 0.999994 COPA 1314 __UNKNOWN__ __UNKNOWN__ 1 160259661 160259661 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:160259661A>G ENST00000241704.7 - 0 4190 COPA_ENST00000368069.3_3'UTR NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha NA NA COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) gattacaggtatgagccactc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U24105 CCDS1202.1, CCDS41424.1 1q23.2 2014-01-30 ENSG00000122218 ENSG00000122218 1314 WD repeat domain containing, Endogenous ligands 2230 protein-coding gene gene with protein product proxenin, xenin 601924 NA 8647451 Standard NM_004371 NM_004371 NA Approved HEP-COP uc001fvv.4 P53621 OTTHUMG00000033111 ENST00000241704.7:c.*286T>C chr1.hg19:g.160259661A>G NA Q5T201|Q8IXZ9 hg19 CCDS1202.1 0.02 1.82744 GGTxTGA COVERED NOVEL COPA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080638.1 11 3.609635 KEEP 0 0 0 12 351 AA 0.993634 0.986604 0 - 4 60 135 0 0 9.030263 56 60 1552 104 ENST00000241704.7 0.066667 0.992926 COPA 1314 __UNKNOWN__ __UNKNOWN__ 1 160281520 160281520 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:160281520A>G ENST00000241704.7 - 11 1306 COPA_ENST00000368069.3_Intron NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha NA NA COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ctgggcgacaaagcgagactc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U24105 CCDS1202.1, CCDS41424.1 1q23.2 2014-01-30 ENSG00000122218 ENSG00000122218 1314 WD repeat domain containing, Endogenous ligands 2230 protein-coding gene gene with protein product proxenin, xenin 601924 NA 8647451 Standard NM_004371 NM_004371 NA Approved HEP-COP uc001fvv.4 P53621 OTTHUMG00000033111 ENST00000241704.7:c.1076+137T>C chr1.hg19:g.160281520A>G NA Q5T201|Q8IXZ9 hg19 CCDS1202.1 0.02 -0.419352 ACAxAGC COVERED NOVEL COPA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080638.1 2 3.310413 KEEP 0 0 0 11 360 AA 0.993072 0.947879 0 - 3 45 109 1 0 7.818103 34 60 940 74 ENST00000241704.7 0.081081 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 160870589 160870589 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:160870589A>G NA NA ITLN1 (15629 upstream) : RP11-312J18.6 (30939 downstream) NA NA NA gcaaagacatagaattaacct 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.160870589A>G NA hg19 0.02 -0.342021 CATxGAA COVERED NOVEL 0 6 3.009188 KEEP 1 0 0 10 314 AA 0.992708 0.859432 0 3 47 102 0 0 7.075497 35 60 1024 76 0.078947 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 160937507 160937507 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:160937507G>A NA NA ITLN2 (12918 upstream) : F11R (27493 downstream) NA NA NA cactgcgcccggcccatatac 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.160937507G>A NA hg19 0.02 1.295725 CCCxGCC COVERED NOVEL 0 19 4.213052 KEEP 0 0 0 14 472 GT 0.997832 0.993528 0 5 60 150 0 1 9.843607 57 60 1872 113 0.080645 0.995687 ARHGAP30 257106 __UNKNOWN__ __UNKNOWN__ 1 161022209 161022209 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161022209C>A ENST00000368013.3 - 8 1261 ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Intron NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231) GTPase activator activity (GO:0005096) breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGCAGAGCTCCCCCCATCTCC 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 204 202 203 NA NA NA 1 NA NA 161022209 2203 4300 6503 SO:0001627 intron_variant AL832852 CCDS1215.1, CCDS30918.1, CCDS72958.1 1q23.3 2011-06-29 ENSG00000186517 ENSG00000186517 257106 Rho GTPase activating proteins 27414 protein-coding gene gene with protein product 614264 NA Standard NM_181720 NM_001287602 NA Approved FLJ00267 uc001fxl.3 Q7Z6I6 OTTHUMG00000031477 ENST00000368013.3:c.940+20G>T chr1.hg19:g.161022209C>A NA Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7 hg19 CCDS30918.1 0.02 4.59343 CTCxCCC COVERED NOVEL ARHGAP30-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077090.2 2 33.337672 KEEP 0 1 30 122 4096 CC 1 1 0 - 99 60 2815 0 0 275.555146 79 60 2598 416 ENST00000368013.3 0.55618 1 DEDD 9191 __UNKNOWN__ __UNKNOWN__ 1 161094490 161094490 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161094490A>G ENST00000368006.3 - 3 151 NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000490843.2_Intron|DEDD_ENST00000545495.1_Intron|DEDD_ENST00000368005.1_Intron|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000392188.1_Intron|DEDD_ENST00000458050.2_Intron NM_032998.2 NP_127491.1 O75618 DEDD_HUMAN death effector domain containing NA NA decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730) DNA binding (GO:0003677) cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) aggggctcacacctgtaatcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF043733 CCDS1219.1 1q23.1 2008-02-05 2002-01-14 ENSG00000158796 ENSG00000158796 9191 2755 protein-coding gene gene with protein product 606841 death effector domain-containing NA 9774341, 9832420 Standard NM_004216 XM_005245597 NA Approved DEFT, FLDED1, CASP8IP1, KE05, DEDD1 uc001fxz.3 O75618 OTTHUMG00000033104 ENST00000368006.3:c.64-174T>C chr1.hg19:g.161094490A>G NA D3DVF5|O60737 hg19 CCDS1219.1 0.02 1.707337 CACxCCT COVERED NOVEL DEDD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080582.1 4 4.212221 KEEP 0 0 0 14 424 AA 0.995343 0.974965 0 - 4 60 129 0 1 8.871646 43 60 1216 90 ENST00000368006.3 0.085106 0.979526 DEDD 9191 __UNKNOWN__ __UNKNOWN__ 1 161094506 161094506 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161094506T>C ENST00000368006.3 - 3 151 NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000490843.2_Intron|DEDD_ENST00000545495.1_Intron|DEDD_ENST00000368005.1_Intron|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000392188.1_Intron|DEDD_ENST00000458050.2_Intron NM_032998.2 NP_127491.1 O75618 DEDD_HUMAN death effector domain containing NA NA decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730) DNA binding (GO:0003677) cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) aatcccagcattttgggaggc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF043733 CCDS1219.1 1q23.1 2008-02-05 2002-01-14 ENSG00000158796 ENSG00000158796 9191 2755 protein-coding gene gene with protein product 606841 death effector domain-containing NA 9774341, 9832420 Standard NM_004216 XM_005245597 NA Approved DEFT, FLDED1, CASP8IP1, KE05, DEDD1 uc001fxz.3 O75618 OTTHUMG00000033104 ENST00000368006.3:c.64-190A>G chr1.hg19:g.161094506T>C NA D3DVF5|O60737 hg19 CCDS1219.1 0.02 2.140671 GCAxTTT COVERED NOVEL DEDD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080582.1 7 3.91169 KEEP 0 0 0 13 411 TT 0.994391 0.965375 0 - 4 60 125 0 0 8.677626 38 60 1138 83 ENST00000368006.3 0.095238 0.97082 UFC1 51506 __UNKNOWN__ __UNKNOWN__ 1 161126608 161126608 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161126608T>G ENST00000368003.5 + 2 369 RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_Intron NM_016406.3 NP_057490.2 Q9Y3C8 UFC1_HUMAN ubiquitin-fold modifier conjugating enzyme 1 NA NA protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976) extracellular vesicular exosome (GO:0070062) UFM1 conjugating enzyme activity (GO:0071568) endometrium(1)|lung(9) 10 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ctccagcctgtgcgacgggag 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161504 CCDS1220.1 1q23.3 2008-02-05 ENSG00000143222 ENSG00000143222 51506 26941 protein-coding gene gene with protein product 610554 NA 15071506, 11042152 Standard NM_016406 NM_016406 NA Approved HSPC155 uc001fyd.4 Q9Y3C8 OTTHUMG00000033155 ENST00000368003.5:c.124-132T>G chr1.hg19:g.161126608T>G NA A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009 hg19 CCDS1220.1 0.02 -0.368241 CTGxGCG COVERED NOVEL UFC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080810.1 2 6.91733 KEEP 0 0 0 23 648 TT 0.999892 0.899217 0 + 3 60 104 0 0 7.240453 36 60 981 69 ENST00000368003.5 0.076923 0.899314 FCER1G 2207 __UNKNOWN__ __UNKNOWN__ 1 161190425 161190425 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161190425T>C ENST00000367992.3 + 0 487 AL590714.1_ENST00000594609.1_Intron P30273 FCERG_HUMAN Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554) cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) IgE receptor activity (GO:0019767) endometrium(1)|lung(5) 6 all_cancers(52;1.35e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Benzylpenicilloyl Polylysine(DB00895) ggattacaggtgtgagccacc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1225.1 1q23 2008-02-05 ENSG00000158869 ENSG00000158869 2207 3611 protein-coding gene gene with protein product 147139 NA 2138619 Standard NM_004106 NM_004106 NA Approved uc001fyz.1 P30273 OTTHUMG00000034343 ENST00000367992.3:c.*105T>C chr1.hg19:g.161190425T>C NA Q5VTW4 hg19 0.02 5.523132 AGGxGTG COVERED NOVEL FCER1G-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000083013.1 32 5.850344 KEEP 0 1 21 27 846 TT 0.999997 0.999997 0 + 6 60 206 0 0 12.294519 158 60 4641 315 ENST00000367992.3 0.036585 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 161381614 161381614 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161381614T>C NA NA RNU6-481P (10429 upstream) : FCGR2A (93605 downstream) NA NA NA gtggctcatgtctgtaatccc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.161381614T>C NA hg19 0.02 -0.429744 ATGxCTG COVERED NOVEL 0 9 2.407342 KEEP 0 0 0 8 251 TT 0.99257 0.9474 0 5 60 160 0 0 11.62378 39 60 1149 79 0.113636 0.954491 FCGR2A 2212 __UNKNOWN__ __UNKNOWN__ 1 161483750 161483750 __UNKNOWN__ Intron SNP C C T rs395463 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161483750C>T ENST00000271450.6 + 6 818 RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Intron NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTCCTTTTCCTCCTGCCTTG 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 286 265 272 NA NA NA 1 NA NA 161483750 2203 4300 6503 SO:0001627 intron_variant J03619 CCDS30922.1, CCDS44264.1 1q23 2013-01-11 2005-02-02 ENSG00000143226 ENSG00000143226 2212 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3616 protein-coding gene gene with protein product Immunoglobulin G Fc receptor II 146790 Fc fragment of IgG, low affinity IIa, receptor for (CD32) FCG2, FCGR2A1, FCGR2 NA 2139735 Standard NM_021642 NM_021642 NA Approved CD32, CD32A, IGFR2, CDw32 uc001gan.3 P12318 OTTHUMG00000034469 ENST00000271450.6:c.780+28C>T chr1.hg19:g.161483750C>T NA Q8WUN1|Q8WW64 hg19 CCDS44264.1 0.02 5.672739 TTCxTCC COVERED NOVEL FCGR2A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000083318.3 13 14.99361 KEEP 9 12 365 178 6411 CC 1 1 0 + 31 47 884 1 0 63.299477 206 60 7105 628 ENST00000271450.6 0.130802 1 FCGR2A 2212 __UNKNOWN__ __UNKNOWN__ 1 161488439 161488439 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161488439T>C ENST00000271450.6 + 0 1493 RP11-25K21.6_ENST00000537821.2_RNA NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ctcaatctgttacccaggctg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J03619 CCDS30922.1, CCDS44264.1 1q23 2013-01-11 2005-02-02 ENSG00000143226 ENSG00000143226 2212 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3616 protein-coding gene gene with protein product Immunoglobulin G Fc receptor II 146790 Fc fragment of IgG, low affinity IIa, receptor for (CD32) FCG2, FCGR2A1, FCGR2 NA 2139735 Standard NM_021642 NM_021642 NA Approved CD32, CD32A, IGFR2, CDw32 uc001gan.3 P12318 OTTHUMG00000034469 ENST00000271450.6:c.*501T>C chr1.hg19:g.161488439T>C NA Q8WUN1|Q8WW64 hg19 CCDS44264.1 0.02 5.618038 TGTxACC COVERED NOVEL FCGR2A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000083318.3 37 11.743549 KEEP 6 5 180 102 2901 TT 1 1 0 + 7 60 228 2 0 13.562228 159 60 4297 402 ENST00000271450.6 0.042169 1 FCGR3A 2214 __UNKNOWN__ __UNKNOWN__ 1 161519476 161519476 __UNKNOWN__ Intron SNP C C T rs200491255 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161519476C>T ENST00000436743.1 - 2 195 FCGR3A_ENST00000443193.1_Intron|FCGR3A_ENST00000476031.1_Intron|FCGR3A_ENST00000367969.3_Intron|FCGR3A_ENST00000540048.1_Intron|RP11-25K21.6_ENST00000537821.2_RNA NM_001127593.1|NM_001127595.1|NM_001127596.1 NP_001121065.1|NP_001121067.1|NP_001121068.1 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACCAGGGAGACCCTGACTTAC 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 94 90 91 NA NA NA 1 NA NA 161519476 2203 4300 6503 SO:0001627 intron_variant BC036723 CCDS1232.1, CCDS44266.1 1q23 2014-09-17 2005-02-02 ENSG00000203747 ENSG00000203747 2214 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3619 protein-coding gene gene with protein product 146740 Fc fragment of IgG, low affinity IIIa, receptor for (CD16) FCGR3, FCG3 NA 2139735 Standard NM_000569 NM_001127592 NA Approved CD16, CD16a uc001gar.3 P08637 OTTHUMG00000034466 ENST00000436743.1:c.40+10G>A chr1.hg19:g.161519476C>T NA A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0 hg19 CCDS44266.1 0.02 -0.359618 AGAxCCT COVERED NOVEL FCGR3A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000102169.2 2 7.157425 KEEP 0 1 32 35 1179 CC 0.999999 0.888874 0 - 7 46 197 0 0 14.905833 34 60 1097 80 ENST00000436743.1 0.170732 0.888875 FCGR3B 2215 __UNKNOWN__ __UNKNOWN__ 1 161596014 161596014 __UNKNOWN__ Silent SNP A A G rs71632957 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161596014A>G ENST00000367964.2 - 5 619 c.498T>C c.(496-498)gaT>gaC p.D166D FCGR3B_ENST00000294800.3_Silent_p.D166D|FCGR3B_ENST00000531221.1_Silent_p.D202D|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron NM_000570.4|NM_001271036.1 NP_000561.3|NP_001257965.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 166 Ig-like C2-type 2. NA immune response (GO:0006955) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGGAGCCGCTATCTTTGAGTG 0.448 NA G||| 110 0.0219649 0.0734 0.0043 5008 , , NA 23346 0 NA 0.006 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 113 122 119 NA NA NA 1 NA NA 161596014 2190 4297 6487 SO:0001819 synonymous_variant J04162 CCDS41433.1, CCDS58040.1, CCDS72960.1, CCDS72961.1 1q23 2013-01-11 2005-02-02 ENSG00000162747 ENSG00000162747 2215 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3620 protein-coding gene gene with protein product 610665 Fc fragment of IgG, low affinity IIIb, receptor for (CD16) FCGR3, FCG3 NA 2139735 Standard NM_000570 NM_000570 NA Approved CD16, CD16b uc009wul.3 O75015 OTTHUMG00000074099 ENST00000367964.2:c.498T>C chr1.hg19:g.161596014A>G NA hg19 CCDS41433.1 0.02 1.85693 GCTxTCT COVERED 38 0.0173992673992674 19 0.03861788617886179 2 0.0055248618784530384 1 0.0017482517482517483 16 0.021108179419525065 - 2.717 -0.267405 0.05754 . . ENSG00000162747 ENST00000421702 . . . 2.47 1.52 0.23074 . . . . . . . . . . . 0.09310 N 0.999996 . . . . . . . . . . . . . . 4.3579 0.11187 0.3515:0.0:0.6485:0.0 . . . . Q 187 . . X - 1 0 FCGR3B 159862638 0.746000 0.28272 0.173000 0.22940 0.020000 0.10135 2.061000 0.41403 0.378000 0.24764 -0.534000 0.04291 TAG NOVEL FCGR3B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383000.1 5 11.433068 KEEP 5 0 0 38 1155 AA 1 0.997553 0 - 5 33 163 0 0 10.807197 67 60 1862 151 ENST00000367964.2 0.069444 0.997553 DUSP12 11266 __UNKNOWN__ __UNKNOWN__ 1 161722753 161722753 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:161722753A>C ENST00000367943.4 + 5 706 NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 NA NA cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) gcactctagcatgggcgacag 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF119226 CCDS1234.1 1q21-q22 2011-06-09 ENSG00000081721 ENSG00000081721 11266 Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases 3067 protein-coding gene gene with protein product serine/threonine specific protein phosphatase, YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog 604835 NA 10446167 Standard NM_007240 XM_005244862 NA Approved YVH1, DUSP1 uc001gbo.3 Q9UNI6 OTTHUMG00000034540 ENST00000367943.4:c.675-112A>C chr1.hg19:g.161722753A>C NA Q5VXA8 hg19 CCDS1234.1 0.02 -0.245574 AGCxTGG COVERED NOVEL DUSP12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083588.1 5 5.41589 KEEP 0 0 0 18 552 AA 0.999859 0.668429 0 + 3 60 98 1 0 7.30576 21 60 626 56 ENST00000367943.4 0.125 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 162407003 162407003 __UNKNOWN__ IGR SNP G G C rs164145 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:162407003G>C NA NA SH2D1B (25075 upstream) : UHMK1 (60037 downstream) NA NA NA tcagcactttgggaggccgag 0.433 NA G||| 743 0.148363 0.034 0.2104 5008 , , NA 16607 0.1577 NA 0.2028 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.162407003G>C NA hg19 0.02 -0.219315 TTTxGGA COVERED NOVEL 0 10 2.408028 KEEP 4 0 0 8 304 GG 0.99257 0.578599 0 4 60 138 0 0 11.268275 17 60 579 60 0.190476 0.58293 MGST3 4259 __UNKNOWN__ __UNKNOWN__ 1 165630678 165630678 __UNKNOWN__ Missense_Mutation SNP G G T rs113358049 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:165630678G>T ENST00000367888.4 + 6 423 c.335G>T c.(334-336)cGt>cTt p.R112L O14880 MGST3_HUMAN microsomal glutathione S-transferase 3 112 NA glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635) glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601) endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 6 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Glutathione(DB00143) gtgtccaatcgtttggcttcc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF026977 CCDS1249.1 1q23 2012-06-21 ENSG00000143198 ENSG00000143198 4259 2.5.1.18 Glutathione S-transferases / Microsomal 7064 protein-coding gene gene with protein product microsomal glutathione S-transferase III, microsomal GST-3, microsomal GST-III 604564 NA 9278457 Standard NM_004528 NM_004528 NA Approved GST-III uc001gdf.3 O14880 OTTHUMG00000034627 ENST00000367888.4:c.335G>T chr1.hg19:g.165630678G>T ENSP00000356863:p.Arg112Leu NA B2R592|Q6ICN4 hg19 0.02 1.149066 ATCxTTT COVERED . . . . . . . . . . G 8.231 0.804607 0.16467 . . ENSG00000143198 ENST00000367888 D 0.81579 -1.51 0.566 -1.13 0.09775 . . . . . T 0.55178 0.1904 . . . 0.51012 D 0.999903 . . . . . . T 0.51694 -0.8673 4 0.87932 D 0 . . . . . . . . L 112 ENSP00000356863:R112L ENSP00000356863:R112L R + 2 0 MGST3 163897302 . . 0.001000 0.08648 0.149000 0.21700 . . -1.971000 0.01002 -2.150000 0.00334 CGT NOVEL MGST3-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000083877.1 10 9.923826 KEEP 0 0 0 33 1063 GG 0.999998 0.999938 0 + 5 60 149 0 0 9.011521 81 60 2588 166 ENST00000367888.4 0.05814 0.99994 TMCO1 54499 __UNKNOWN__ __UNKNOWN__ 1 165778033 165778033 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:165778033T>C ENST00000580248.1 - 2 286 Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 NA NA endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) gagtttgagatcagcctgggc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020980 CCDS1251.1, CCDS1251.2 1q22-q25 2008-02-05 2005-07-13 2005-07-13 ENSG00000143183 ENSG00000143183 54499 18188 protein-coding gene gene with protein product 614123 transmembrane and coiled-coil domains 4 TMCC4 NA 8619474, 9110174 Standard NM_019026 NM_019026 NA Approved HP10122 uc001gdj.5 Q9UM00 OTTHUMG00000034672 ENST00000580248.1:c.417-8761A>G chr1.hg19:g.165778033T>C NA B2REA0|O75545|Q9BZS3|Q9BZU8 hg19 0.02 -0.140315 AGAxCAG COVERED NOVEL TMCO1-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000444422.1 10 4.212986 KEEP 1 0 0 14 448 TT 0.994391 0.290363 0 - 4 60 131 0 0 11.692095 8 60 221 39 ENST00000580248.1 0.333333 0.292001 DCAF6 55827 __UNKNOWN__ __UNKNOWN__ 1 168025536 168025536 __UNKNOWN__ Intron SNP C C A rs182162223 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:168025536C>A ENST00000367840.3 + 17 2394 DCAF6_ENST00000432587.2_Intron|DCAF6_ENST00000312263.6_Intron|DCAF6_ENST00000367843.3_Intron NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 GGGTCCAGTGCGTAGCGTACG 0.637 NA -||| 106 0.0211661 8e-04 0.0014 5008 , , NA 16992 0.0992 NA 0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136738 CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1 1q23.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000143164 ENSG00000143164 55827 WD repeat domain containing, DDB1 and CUL4 associated factors 30002 protein-coding gene gene with protein product 610494 IQ motif and WD repeats 1 IQWD1 NA 12032826 Standard NM_018442 NM_018442 NA Approved PC326 uc001gex.3 Q58WW2 OTTHUMG00000034572 ENST00000367840.3:c.2300+5365C>A chr1.hg19:g.168025536C>A NA A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19 hg19 CCDS55657.1 0.02 -0.175391 GTGxGTA COVERED NOVEL DCAF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000083659.3 0 2.407912 KEEP 0 0 0 8 292 CC 0.99257 0.384528 0 + 3 60 92 0 0 7.033988 16 60 497 40 ENST00000367840.3 0.157895 0.387407 TIPRL 261726 __UNKNOWN__ __UNKNOWN__ 1 168161479 168161479 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:168161479G>A ENST00000367833.2 + 4 661 TIPRL_ENST00000367830.3_3'UTR NM_152902.3 NP_690866.1 O75663 TIPRL_HUMAN TOR signaling pathway regulator NA NA DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231) breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1) 6 all_hematologic(923;0.215) ccagctactcgggaggctgag 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 58 53 55 NA NA NA 1 NA NA 168161479 1629 2851 4480 SO:0001627 intron_variant AB097034 CCDS1270.1, CCDS30935.1 1q23.2 2014-03-07 2014-03-07 ENSG00000143155 ENSG00000143155 261726 30231 protein-coding gene gene with protein product 611807 TIP41, TOR signaling pathway regulator-like (S. cerevisiae) NA 12761501 Standard NM_152902 NM_001031800 NA Approved MGC3794, dJ69E11.3, TIP41 uc001gfg.3 O75663 OTTHUMG00000034646 ENST00000367833.2:c.516+741G>A chr1.hg19:g.168161479G>A NA B2R8V3|Q5HYB2|Q8IZ86 hg19 CCDS1270.1 0.02 4.528787 CTCxGGA COVERED NOVEL TIPRL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083822.1 16 43.201922 KEEP 0 2 58 164 5576 GG 1 1 0 + 10 60 296 1 0 18.009344 155 60 5143 430 ENST00000367833.2 0.060606 1 RP5-968D22.1 0 __UNKNOWN__ __UNKNOWN__ 1 168383965 168383965 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:168383965A>G ENST00000441851.1 - 0 142 NR_037851.1 NA NA NA gagccaccgcacccggcccag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000441851.1: chr1.hg19:g.168383965A>G NA hg19 0.02 -0.227994 CGCxCCC COVERED NOVEL RP5-968D22.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000083820.1 5 2.406683 KEEP 0 0 0 8 243 AA 0.99257 0.578599 0 - 3 60 99 0 0 7.406 21 60 597 50 ENST00000441851.1 0.125 0.58293 LINC00970 101978719 __UNKNOWN__ __UNKNOWN__ 1 168993282 168993282 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:168993282T>C ENST00000366408.3 - 0 209 NR_104091.1 long intergenic non-protein coding RNA 970 NA NA NA gtaatcccagtactttgggag 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC041008 1q24.2 2013-06-07 ENSG00000203601 ENSG00000203601 101978719 Long non-coding RNAs 48730 non-coding RNA RNA, long non-coding NA 23741487 Standard NR_104091 NA Approved OTTHUMG00000034588 ENST00000366408.3: chr1.hg19:g.168993282T>C NA hg19 0.02 -0.157854 CAGxACT COVERED NOVEL LINC00970-001 KNOWN basic antisense NA antisense OTTHUMT00000083693.1 6 3.008365 KEEP 1 0 0 10 293 TT 0.99254 0.320398 0 - 3 60 104 0 0 8.572347 12 60 341 36 ENST00000366408.3 0.2 0.322807 PRRX1 5396 __UNKNOWN__ __UNKNOWN__ 1 170698105 170698105 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:170698105T>G ENST00000239461.6 + 3 912 PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000497230.2_3'UTR|PRRX1_ENST00000367760.3_Intron NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 NA NA artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880) nucleolus (GO:0005730)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTATGTCAAGTTAGTTATCTC 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M95929 CCDS1290.1, CCDS1291.1 1q24.3 2011-06-20 2003-11-12 2003-11-14 ENSG00000116132 ENSG00000116132 5396 Homeoboxes / PRD class 9142 protein-coding gene gene with protein product 167420 paired mesoderm homeo box 1 PMX1 NA 1509260 Standard NM_006902 NM_006902 NA Approved PHOX1 uc001ghf.3 P54821 OTTHUMG00000035231 ENST00000239461.6:c.599+2563T>G chr1.hg19:g.170698105T>G NA B5BUM7|O60807 hg19 CCDS1290.1 0.02 -0.43856 AAGxTAG COVERED NOVEL PRRX1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085236.3 1 14.74491 KEEP 0 0 0 49 1580 TT 1 0.959859 0 + 26 60 852 0 0 82.893413 23 60 695 124 ENST00000239461.6 0.530612 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 171452938 171452938 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:171452938T>C NA NA snoU13 (1790 upstream) : PRRC2C (1712 downstream) NA NA NA ctcctgaccttgtgatccgcc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.171452938T>C NA hg19 0.02 -0.254192 CCTxGTG COVERED NOVEL 0 5 2.708203 KEEP 7 0 0 9 279 TT 0.99257 0.663556 0 4 60 120 0 0 8.925572 24 60 630 77 0.142857 0.668523 PRRC2C 23215 __UNKNOWN__ __UNKNOWN__ 1 171530359 171530359 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:171530359G>A ENST00000338920.4 + 20 6348 PRRC2C_ENST00000392078.3_Intron|PRRC2C_ENST00000426496.2_Intron|PRRC2C_ENST00000367742.3_Intron NM_015172.3 NP_055987.2 Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C NA NA hematopoietic progenitor cell differentiation (GO:0002244) membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022) NA acttgagtccgggagtttgag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL096857 CCDS1296.2 1q24.3 2012-07-18 2010-12-09 2010-12-09 ENSG00000117523 ENSG00000117523 23215 24903 protein-coding gene gene with protein product BAT2 domain containing 1, HLA-B associated transcript 2-like 2 BAT2D1, BAT2L2 NA 10470851, 12443540 Standard NM_015172 NM_015172 NA Approved KIAA1096, XTP2 uc010pmg.2 Q9Y520 OTTHUMG00000034665 ENST00000338920.4:c.6111+117G>A chr1.hg19:g.171530359G>A NA Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6 hg19 CCDS1296.2 0.02 -0.307004 TCCxGGA COVERED NOVEL PRRC2C-010 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000314826.4 7 7.223281 KEEP 0 0 0 24 840 GG 0.999909 0.818391 0 + 4 60 110 1 0 7.622562 29 60 968 69 ENST00000338920.4 0.121212 0.818465 ANKRD45 339416 __UNKNOWN__ __UNKNOWN__ 1 173636733 173636733 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:173636733C>T ENST00000333279.2 - 1 46 NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 NA NA NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 tagtcccagccactcaggagg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1309.1 1q25.1 2013-01-10 ENSG00000183831 ENSG00000183831 339416 Ankyrin repeat domain containing 24786 protein-coding gene gene with protein product cancer/testis antigen 117 NA Standard NM_198493 NM_198493 NA Approved FLJ45235, CT117 uc001gja.1 Q5TZF3 OTTHUMG00000040546 ENST00000333279.2:c.14+2222G>A chr1.hg19:g.173636733C>T NA A1A4G2|Q6ZST1 hg19 CCDS1309.1 0.02 -0.271894 AGCxACT COVERED NOVEL ANKRD45-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097580.2 5 2.240575 KEEP 0 1 30 18 589 CC 0.99986 0.717215 0 - 4 60 101 1 0 6.901245 26 60 857 59 ENST00000333279.2 0.133333 0.717315 ZBTB37 84614 __UNKNOWN__ __UNKNOWN__ 1 173849067 173849067 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:173849067C>T ENST00000367701.5 + 4 1214 ZBTB37_ENST00000427304.1_Intron|ZBTB37_ENST00000367704.1_Intron Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 ccagcctgggcgacaaagcga 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057310 CCDS1312.1, CCDS44278.1 1q24.2 2013-01-08 ENSG00000185278 ENSG00000185278 84614 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 28365 protein-coding gene gene with protein product NA 12477932 Standard NM_032522 NM_032522 NA Approved MGC2629, ZNF908 uc009wwp.1 Q5TC79 OTTHUMG00000037274 ENST00000367701.5:c.1024-5707C>T chr1.hg19:g.173849067C>T NA Q5TC80|Q96M87|Q9BQ88 hg19 CCDS44278.1 0.02 -0.429785 GGGxGAC COVERED NOVEL ZBTB37-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090729.2 5 3.444909 KEEP 0 1 27 21 744 CC 0.999879 0.954375 0 + 4 60 111 1 0 7.194614 40 60 1282 79 ENST00000367701.5 0.090909 0.954491 RABGAP1L 9910 __UNKNOWN__ __UNKNOWN__ 1 174634638 174634638 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:174634638T>G ENST00000251507.4 + 15 1998 NM_014857.4 NP_055672.3 B7ZAP0 RBG10_HUMAN RAB GTPase activating protein 1-like NA NA NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 ctgttgcccatgctggagtgc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF279778 CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1 1q24 2011-11-21 ENSG00000152061 ENSG00000152061 9910 24663 protein-coding gene gene with protein product 609238 NA 10585558 Standard NM_001243765 NM_014857 NA Approved HHL, TBC1D18, KIAA0471, FLJ38519 uc001gjx.3 B7ZAP0 OTTHUMG00000034899 ENST00000251507.4:c.1825-18022T>G chr1.hg19:g.174634638T>G NA B7ZAA4 hg19 CCDS1314.1 0.02 -0.298177 CCAxGCT COVERED NOVEL RABGAP1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084497.1 4 3.61062 KEEP 0 0 0 12 371 TT 0.993634 0.776087 0 + 4 60 142 0 0 10.816889 29 60 849 63 ENST00000251507.4 0.121212 0.78106 FAM20B 9917 __UNKNOWN__ __UNKNOWN__ 1 179044070 179044070 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:179044070C>A ENST00000263733.4 + 0 4357 NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 tcatgcctgtcatcccagcat 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007944 CCDS1328.1 1q25.2 2013-04-29 ENSG00000116199 ENSG00000116199 9917 23017 protein-coding gene gene with protein product glycosaminoglycan xylosylkinase 611063 NA 9455484, 19473117 Standard NM_014864 NM_014864 NA Approved KIAA0475, GXK1 uc001gmc.3 O75063 OTTHUMG00000035073 ENST00000263733.4:c.*2791C>A chr1.hg19:g.179044070C>A NA Q5W0C3|Q5W0C4 hg19 CCDS1328.1 0.02 2.271712 TGTxATC COVERED NOVEL FAM20B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084922.1 7 14.616201 KEEP 0 2 61 70 2457 CC 1 1 0 + 11 70 286 0 0 17.120247 130 60 4244 285 ENST00000263733.4 0.078014 1 FAM20B 9917 __UNKNOWN__ __UNKNOWN__ 1 179044113 179044113 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:179044113C>T ENST00000263733.4 + 0 4400 NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 tcacctgaggccaggagttcg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007944 CCDS1328.1 1q25.2 2013-04-29 ENSG00000116199 ENSG00000116199 9917 23017 protein-coding gene gene with protein product glycosaminoglycan xylosylkinase 611063 NA 9455484, 19473117 Standard NM_014864 NM_014864 NA Approved KIAA0475, GXK1 uc001gmc.3 O75063 OTTHUMG00000035073 ENST00000263733.4:c.*2834C>T chr1.hg19:g.179044113C>T NA Q5W0C3|Q5W0C4 hg19 CCDS1328.1 0.02 7.390903 AGGxCAG COVERED NOVEL FAM20B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084922.1 42 27.589275 KEEP 0 3 80 120 4206 CC 1 1 0 + 13 60 365 1 0 20.41161 245 60 8372 586 ENST00000263733.4 0.050388 1 ABL2 27 __UNKNOWN__ __UNKNOWN__ 1 179162923 179162923 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:179162923A>G ENST00000502732.1 - 1 361 ABL2_ENST00000511413.1_Intron|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000367623.4_Intron NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN ABL proto-oncogene 2, non-receptor tyrosine kinase NA NA actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829) actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713) breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) ctggagtgcaatggcgcgatc 0.542 NA T ETV6 AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q24-q25 27 v-abl Abelson murine leukemia viral oncogene homolog 2 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M14904 CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1 1q25.2 2014-06-26 2014-06-26 ENSG00000143322 ENSG00000143322 27 SH2 domain containing 77 protein-coding gene gene with protein product Abelson-related gene 164690 v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene), v-abl Abelson murine leukemia viral oncogene homolog 2, c-abl oncogene 2, non-receptor tyrosine kinase ABLL NA 3787260 Standard NM_005158 NM_001136001 NA Approved ARG uc001gmi.4 P42684 OTTHUMG00000035199 ENST00000502732.1:c.157+35452T>C chr1.hg19:g.179162923A>G NA A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301 hg19 CCDS30947.1 0.02 -0.201675 GCAxTGG COVERED NOVEL ABL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085174.3 5 2.70779 KEEP 1 0 0 9 271 AA 0.99254 0.486885 0 - 3 60 106 0 0 8.433641 16 60 441 42 ENST00000502732.1 0.157895 0.490544 SOAT1 6646 __UNKNOWN__ __UNKNOWN__ 1 179325748 179325748 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:179325748T>C ENST00000367619.3 + 0 4768 NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 NA NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) cctcagcctctcaaagtgctg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L21934 CCDS1330.1, CCDS58047.1, CCDS58048.1 1q25 2008-08-26 2008-08-26 ENSG00000057252 ENSG00000057252 6646 2.3.1.26 11177 protein-coding gene gene with protein product acyl-Coenzyme A: cholesterol acyltransferase 102642 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 SOAT, STAT NA 8407899 Standard NM_003101 NM_003101 NA Approved ACAT uc001gml.3 P35610 OTTHUMG00000035253 ENST00000367619.3:c.*2972T>C chr1.hg19:g.179325748T>C NA A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4 hg19 CCDS1330.1 0.02 7.42878 CTCxCAA COVERED NOVEL SOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085286.2 53 10.808497 KEEP 0 5 181 99 3122 TT 1 1 0 + 10 60 327 0 0 19.924371 205 60 6164 492 ENST00000367619.3 0.046512 1 RP11-12M5.1 0 __UNKNOWN__ __UNKNOWN__ 1 179706709 179706709 __UNKNOWN__ lincRNA SNP A A G rs568738337 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:179706709A>G ENST00000423879.1 + 0 201 NA NA NA ggtggctcacacctgtaatcc 0.498 NA A||| 1 0.000199681 0 0 5008 , , NA 18065 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423879.1: chr1.hg19:g.179706709A>G NA hg19 0.02 -0.201736 CACxCCT COVERED NOVEL RP11-12M5.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000085298.1 4 2.707354 KEEP 1 0 0 9 272 AA 0.99254 0.486885 0 + 3 60 101 0 0 7.72685 19 60 575 53 ENST00000423879.1 0.136364 0.490544 ACBD6 84320 __UNKNOWN__ __UNKNOWN__ 1 180387455 180387455 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:180387455A>G ENST00000367595.3 - 5 1155 NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 NA NA cytoplasm (GO:0005737) fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289) ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 gctcacacctataatcccagc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC006505 CCDS1339.1 1q25.1 2013-10-11 2010-04-30 ENSG00000135847 84320 Ankyrin repeat domain containing 23339 protein-coding gene gene with protein product acyl-Coenzyme A binding domain containing 6 NA 18268358 Standard NM_032360 NM_032360 NA Approved MGC2404 uc001gog.3 Q9BR61 OTTHUMG00000035117 ENST00000367595.3:c.468-4849T>C chr1.hg19:g.180387455A>G NA hg19 CCDS1339.1 0.02 -0.166596 CCTxTAA COVERED NOVEL ACBD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084998.1 3 2.705986 KEEP 0 0 0 9 269 AA 0.99254 0.351306 0 - 3 60 97 0 0 7.692455 14 60 389 39 ENST00000367595.3 0.176471 0.353947 XPR1 9213 __UNKNOWN__ __UNKNOWN__ 1 180796406 180796406 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:180796406A>G ENST00000367590.4 + 9 1332 XPR1_ENST00000367589.3_Intron NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618) breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 gattacaggcatgagccactg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF099082 CCDS1340.1, CCDS44284.1 1q25.1 2013-07-18 2010-04-23 ENSG00000143324 ENSG00000143324 9213 12827 protein-coding gene gene with protein product 605237 xenotropic and polytropic retrovirus receptor NA 9990033 Standard NM_004736 NM_004736 NA Approved SYG1, X3 uc001goi.3 Q9UBH6 OTTHUMG00000035116 ENST00000367590.4:c.1134+1926A>G chr1.hg19:g.180796406A>G NA O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9 hg19 CCDS1340.1 0.02 -0.394571 GGCxTGA COVERED NOVEL XPR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084996.2 5 2.707839 KEEP 1 0 0 9 271 AA 0.99257 0.919755 0 + 3 60 104 0 0 7.108481 40 60 1125 77 ENST00000367590.4 0.069767 0.92664 XPR1 9213 __UNKNOWN__ __UNKNOWN__ 1 180856049 180856049 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:180856049T>C ENST00000367590.4 + 0 5136 NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618) breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 gtggctcacgtctgtaatccc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF099082 CCDS1340.1, CCDS44284.1 1q25.1 2013-07-18 2010-04-23 ENSG00000143324 ENSG00000143324 9213 12827 protein-coding gene gene with protein product 605237 xenotropic and polytropic retrovirus receptor NA 9990033 Standard NM_004736 NM_004736 NA Approved SYG1, X3 uc001goi.3 Q9UBH6 OTTHUMG00000035116 ENST00000367590.4:c.*2847T>C chr1.hg19:g.180856049T>C NA O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9 hg19 CCDS1340.1 0.02 1.897443 ACGxCTG COVERED NOVEL XPR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084996.2 2 7.8225 KEEP 0 0 0 26 809 TT 0.999957 0.979484 0 + 5 60 170 0 0 12.329253 45 60 1333 98 ENST00000367590.4 0.1 0.979526 MR1 3140 __UNKNOWN__ __UNKNOWN__ 1 181008221 181008221 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:181008221A>G ENST00000367580.5 + 1 72 MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000367579.3_Intron NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612) MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 Antithymocyte globulin(DB00098) gattacaggcatgagccacca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(174;1412 1962 45296 46549 47110) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF010446 CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1 1q25.3 2013-01-11 2003-03-05 2003-03-07 ENSG00000153029 ENSG00000153029 3140 Immunoglobulin superfamily / C1-set domain containing 4975 protein-coding gene gene with protein product 600764 major histocompatibility complex, class I-like sequence HLALS NA 7624800, 9784382 Standard NM_001531 NM_001194999 NA Approved uc001goq.2 Q95460 OTTHUMG00000035175 ENST00000367580.5:c.67+5011A>G chr1.hg19:g.181008221A>G NA A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3 hg19 CCDS1342.1 0.02 -0.19291 GGCxTGA COVERED NOVEL MR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085134.2 3 2.708076 KEEP 0 0 0 9 277 AA 0.99254 0.454342 0 + 3 60 103 0 0 7.992407 18 60 508 49 ENST00000367580.5 0.142857 0.457757 MR1 3140 __UNKNOWN__ __UNKNOWN__ 1 181026005 181026005 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:181026005T>C ENST00000367580.5 + 0 2635 NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612) MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 Antithymocyte globulin(DB00098) cctgtaatcctagcactttgg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(174;1412 1962 45296 46549 47110) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF010446 CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1 1q25.3 2013-01-11 2003-03-05 2003-03-07 ENSG00000153029 ENSG00000153029 3140 Immunoglobulin superfamily / C1-set domain containing 4975 protein-coding gene gene with protein product 600764 major histocompatibility complex, class I-like sequence HLALS NA 7624800, 9784382 Standard NM_001531 NM_001194999 NA Approved uc001goq.2 Q95460 OTTHUMG00000035175 ENST00000367580.5:c.*1604T>C chr1.hg19:g.181026005T>C NA A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3 hg19 CCDS1342.1 0.02 -0.420877 TCCxAGC COVERED NOVEL MR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085134.2 5 5.414652 KEEP 0 0 0 18 525 TT 0.999859 0.948269 0 + 5 60 171 0 0 12.620701 41 60 1152 79 ENST00000367580.5 0.108696 0.948402 MR1 3140 __UNKNOWN__ __UNKNOWN__ 1 181028734 181028734 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:181028734G>A ENST00000367580.5 + 0 5364 NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612) MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 Antithymocyte globulin(DB00098) aactctccatgtaatctctct 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(174;1412 1962 45296 46549 47110) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF010446 CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1 1q25.3 2013-01-11 2003-03-05 2003-03-07 ENSG00000153029 ENSG00000153029 3140 Immunoglobulin superfamily / C1-set domain containing 4975 protein-coding gene gene with protein product 600764 major histocompatibility complex, class I-like sequence HLALS NA 7624800, 9784382 Standard NM_001531 NM_001194999 NA Approved uc001goq.2 Q95460 OTTHUMG00000035175 ENST00000367580.5:c.*4333G>A chr1.hg19:g.181028734G>A NA A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3 hg19 CCDS1342.1 0.02 1.172883 CATxTAA COVERED NOVEL MR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085134.2 1 16.252087 KEEP 0 0 0 54 1862 GG 1 0.999407 0 + 5 60 149 0 0 9.145049 76 60 2512 190 ENST00000367580.5 0.061728 0.999407 TEDDM1 127670 __UNKNOWN__ __UNKNOWN__ 1 182368554 182368554 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:182368554T>C ENST00000367565.1 - 0 1197 NM_172000.3 NP_741997.3 Q5T9Z0 TEDM1_HUMAN transmembrane epididymal protein 1 NA NA integral component of membrane (GO:0016021) haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2) 7 tcgcttgaactcgggaggcgg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515384 CCDS30953.1 1q25.3 2009-09-17 2005-08-09 ENSG00000203730 ENSG00000203730 127670 30233 protein-coding gene gene with protein product putative membrane protein HE9, transmembrane protein 45C, epididymal protein 9 NA Standard NM_172000 NM_172000 NA Approved HE9, Epdd1, TMEM45C, EDDM9 uc001gpe.3 Q5T9Z0 OTTHUMG00000037398 ENST00000367565.1:c.*245A>G chr1.hg19:g.182368554T>C NA Q8IVJ0 hg19 CCDS30953.1 0.02 1.69283 AACxCGG COVERED NOVEL TEDDM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091029.1 5 5.050459 KEEP 1 1 38 30 937 TT 0.999997 0.995684 0 - 5 60 147 0 0 9.622743 55 60 1588 106 ENST00000367565.1 0.083333 0.995687 TEDDM1 127670 __UNKNOWN__ __UNKNOWN__ 1 182368646 182368646 __UNKNOWN__ 3'UTR SNP G G A rs200272184 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:182368646G>A ENST00000367565.1 - 0 1105 NM_172000.3 NP_741997.3 Q5T9Z0 TEDM1_HUMAN transmembrane epididymal protein 1 NA NA integral component of membrane (GO:0016021) haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2) 7 aaaaaaaaaagaaaagagaag 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515384 CCDS30953.1 1q25.3 2009-09-17 2005-08-09 ENSG00000203730 ENSG00000203730 127670 30233 protein-coding gene gene with protein product putative membrane protein HE9, transmembrane protein 45C, epididymal protein 9 NA Standard NM_172000 NM_172000 NA Approved HE9, Epdd1, TMEM45C, EDDM9 uc001gpe.3 Q5T9Z0 OTTHUMG00000037398 ENST00000367565.1:c.*153C>T chr1.hg19:g.182368646G>A NA Q8IVJ0 hg19 CCDS30953.1 0.02 4.447029 AAAxAAA COVERED NOVEL TEDDM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091029.1 100 5.446324 KEEP 0 15 259 112 3421 GG 1 1 0 - 15 60 375 0 1 21.082599 207 70 6390 557 ENST00000367565.1 0.067568 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 184305349 184305349 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:184305349T>C NA NA RN7SL654P (268 upstream) : RP11-382D12.2 (49537 downstream) NA NA NA aagctgggcatggtggctcac 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.184305349T>C NA hg19 0.02 -0.175408 GCAxGGT COVERED NOVEL 0 6 2.407004 KEEP 0 0 0 8 240 TT 0.99257 0.384528 0 3 60 101 0 0 8.010178 15 60 436 39 0.166667 0.387407 FAM129A 116496 __UNKNOWN__ __UNKNOWN__ 1 184761135 184761135 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:184761135A>G ENST00000367511.3 - 0 5956 NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 ttgttgcccaagctggagtgc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288391 CCDS1364.1 1q25 2008-10-08 2006-11-23 2006-11-23 ENSG00000135842 ENSG00000135842 116496 16784 protein-coding gene gene with protein product cell growth inhibiting protein 39 chromosome 1 open reading frame 24 C1orf24 NA 15085203, 16444351 Standard NM_052966 NA Approved NIBAN, GIG39 uc001gra.4 Q9BZQ8 OTTHUMG00000035388 ENST00000367511.3:c.*2976T>C chr1.hg19:g.184761135A>G NA Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9 hg19 CCDS1364.1 0.02 1.704827 CCAxGCT COVERED NOVEL FAM129A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085786.1 14 6.533116 KEEP 1 1 26 31 961 AA 0.999997 0.99899 0 - 5 60 152 0 0 9.679222 68 70 1967 141 ENST00000367511.3 0.068493 0.998993 FAM129A 116496 __UNKNOWN__ __UNKNOWN__ 1 184762515 184762515 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:184762515A>C ENST00000367511.3 - 0 4576 NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 catggtgaaaacccatctcta 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288391 CCDS1364.1 1q25 2008-10-08 2006-11-23 2006-11-23 ENSG00000135842 ENSG00000135842 116496 16784 protein-coding gene gene with protein product cell growth inhibiting protein 39 chromosome 1 open reading frame 24 C1orf24 NA 15085203, 16444351 Standard NM_052966 NA Approved NIBAN, GIG39 uc001gra.4 Q9BZQ8 OTTHUMG00000035388 ENST00000367511.3:c.*1596T>G chr1.hg19:g.184762515A>C NA Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9 hg19 CCDS1364.1 0.02 1.62882 AAAxCCC COVERED NOVEL FAM129A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085786.1 14 13.240575 KEEP 0 0 0 44 1404 AA 1 0.999962 0 - 5 60 146 0 0 8.595898 86 60 2548 202 ENST00000367511.3 0.054945 0.999962 FAM129A 116496 __UNKNOWN__ __UNKNOWN__ 1 184811640 184811640 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:184811640T>C ENST00000367511.3 - 6 795 FAM129A_ENST00000487074.1_Intron NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 gtaatcccagtactttgggag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF288391 CCDS1364.1 1q25 2008-10-08 2006-11-23 2006-11-23 ENSG00000135842 ENSG00000135842 116496 16784 protein-coding gene gene with protein product cell growth inhibiting protein 39 chromosome 1 open reading frame 24 C1orf24 NA 15085203, 16444351 Standard NM_052966 NA Approved NIBAN, GIG39 uc001gra.4 Q9BZQ8 OTTHUMG00000035388 ENST00000367511.3:c.602-10544A>G chr1.hg19:g.184811640T>C NA Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9 hg19 CCDS1364.1 0.02 -0.14909 CAGxACT COVERED NOVEL FAM129A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085786.1 1 2.708265 KEEP 0 0 0 9 281 TT 0.99254 0.289823 0 - 3 60 104 0 0 8.572383 12 60 340 39 ENST00000367511.3 0.2 0.292001 TPR 7175 __UNKNOWN__ __UNKNOWN__ 1 186342492 186342492 __UNKNOWN__ Splice_Site SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:186342492G>C ENST00000367478.4 - 2 551 c.255C>G c.(253-255)ctC>ctG p.L85L TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 85 Necessary for interaction with HSF1. NA carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AATACTTACTGAGTTTCTCTA 0.363 NA T NTRK1 papillary thyroid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q25 7175 translocated promoter region E 0 77 73 74 NA NA NA 1 NA NA 186342492 1824 4079 5903 SO:0001630 splice_region_variant U69668 CCDS41446.1 1q25 2012-03-13 2012-03-13 ENSG00000047410 ENSG00000047410 7175 12017 protein-coding gene gene with protein product 189940 translocated promoter region (to activated MET oncogene) NA 1611909, 15229283 Standard NM_003292 NM_003292 NA Approved uc001grv.3 P12270 OTTHUMG00000035580 ENST00000367478.4:c.256+1C>G chr1.hg19:g.186342492G>C NA Q15655|Q5SWY0|Q99968 hg19 CCDS41446.1 0.02 1.674976 ACTxAGT COVERED NOVEL TPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086353.2 0 14.439782 KEEP 0 0 0 48 1717 GG 1 0.996724 0 Silent - 4 60 131 0 0 8.356838 66 60 2202 169 ENST00000367478.4 0.057143 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 192583047 192583047 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:192583047C>A NA NA RGS1 (33886 upstream) : RGS13 (22227 downstream) NA NA NA aaaaaatagtcatggcgggcc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.192583047C>A NA hg19 0.02 -0.166616 AGTxATG COVERED NOVEL 0 5 2.407656 KEEP 0 0 0 8 274 CC 0.99257 0.351317 0 4 60 99 0 0 7.901374 12 60 385 33 0.25 0.353947 B3GALT2 8707 __UNKNOWN__ __UNKNOWN__ 1 193149437 193149437 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:193149437C>T ENST00000367434.4 - 2 2011 c.1256G>A c.(1255-1257)cGt>cAt p.R419H CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 419 NA oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 ATGTAGTTTACGGTGGCGATA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 101 98 99 NA NA NA 1 NA NA 193149437 2203 4298 6501 SO:0001583 missense Y15060 CCDS1383.1 1q31 2013-02-19 ENSG00000162630 ENSG00000162630 8707 Beta 3-glycosyltransferases 917 protein-coding gene gene with protein product 603018 NA 9582303, 9417100 Standard NM_003783 NM_003783 NA Approved beta3Gal-T2 uc001gtc.4 O43825 OTTHUMG00000035687 ENST00000367434.4:c.1256G>A chr1.hg19:g.193149437C>T ENSP00000356404:p.Arg419His NA B2RAB1|Q9BZQ9 hg19 CCDS1383.1 0.02 1.20804 TTAxGGT COVERED . . . . . . . . . . C 22.8 4.342525 0.81911 . . ENSG00000162630 ENST00000367434 T 0.46451 0.87 5.42 5.42 0.78866 . 0.000000 0.85682 D 0.000000 T 0.50205 0.1602 L 0.36672 1.1 0.80722 D 1 D 0.71674 0.998 P 0.54346 0.749 T 0.52801 -0.8527 10 0.87932 D 0 . 19.2332 0.93847 0.0:1.0:0.0:0.0 . 419 O43825 B3GT2_HUMAN H 419 ENSP00000356404:R419H ENSP00000356404:R419H R - 2 0 B3GALT2 191416060 1.000000 0.71417 0.998000 0.56505 0.995000 0.86356 5.866000 0.69590 2.547000 0.85894 0.555000 0.69702 CGT NOVEL B3GALT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086759.1 1 31.30025 KEEP 0 0 0 104 3605 CC 1 0.998993 0 - 29 60 833 0 0 74.980201 48 60 1569 250 ENST00000367434.4 0.376623 0.998993 CFH 3075 __UNKNOWN__ __UNKNOWN__ 1 196635665 196635665 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:196635665T>C ENST00000359637.2 + 2 120 CFH_ENST00000496761.1_Intron|CFH_ENST00000367429.4_Intron|CFH_ENST00000439155.2_Intron P08603 CFAH_HUMAN complement factor H NA NA complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 gcctgtaatctcagcactttg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y00716 CCDS1385.1 1q32 2014-09-17 2004-08-09 2004-08-12 ENSG00000000971 ENSG00000000971 3075 Complement system 4883 protein-coding gene gene with protein product beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1 134370 H factor 1 (complement) HF, HF1, HF2 NA 2889480, 2963625 Standard NM_000186 NM_000186 NA Approved HUS, FHL1, ARMS1, ARMD4 uc001gtj.4 P08603 OTTHUMG00000035607 ENST00000359637.2:c.59-6443T>C chr1.hg19:g.196635665T>C NA A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86 hg19 0.02 -0.122782 ATCxCAG COVERED NOVEL CFH-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000087502.1 3 2.407343 KEEP 0 0 0 8 254 TT 0.99257 0.194853 0 + 4 60 133 0 0 11.892048 8 60 233 31 ENST00000359637.2 0.333333 0.196312 KIF14 9928 __UNKNOWN__ __UNKNOWN__ 1 200559885 200559885 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:200559885A>G ENST00000367350.4 - 17 3252 NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 NA NA ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165) NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 gggcacagtgactcacgcctg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D26361 CCDS30963.1 1q32.1 2008-03-03 ENSG00000118193 ENSG00000118193 9928 Kinesins 19181 protein-coding gene gene with protein product 611279 NA 7584044 Standard NM_014875 NM_014875 NA Approved KIAA0042 uc010ppk.1 Q15058 OTTHUMG00000035723 ENST00000367350.4:c.2814-485T>C chr1.hg19:g.200559885A>G NA Q14CI8|Q4G0A5|Q5T1W3 hg19 CCDS30963.1 0.02 1.771606 GTGxCTC COVERED NOVEL KIF14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086878.1 13 5.115295 KEEP 0 0 0 17 533 AA 0.999366 0.985529 0 - 4 60 133 0 0 8.954092 52 60 1521 114 ENST00000367350.4 0.071429 0.986153 NAV1 89796 __UNKNOWN__ __UNKNOWN__ 1 201786508 201786508 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:201786508A>G ENST00000367302.1 + 29 5631 NAV1_ENST00000367296.4_Intron|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367295.1_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Intron|NAV1_ENST00000295624.6_Intron|IPO9-AS1_ENST00000421449.1_RNA Q8NEY1 NAV1_HUMAN neuron navigator 1 NA NA microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764) cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 cagcactttgagaggctgagg 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF086348 CCDS1414.1, CCDS1414.2, CCDS53456.1 1q32.3 2008-07-18 ENSG00000134369 ENSG00000134369 89796 15989 protein-coding gene gene with protein product neuron navigator-1, pore membrane and/or filament interacting like protein 3 611628 NA 12079279, 12062803 Standard NM_020443 NM_020443 NA Approved FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314 uc001gwu.3 Q8NEY1 OTTHUMG00000035766 ENST00000367302.1:c.5397+95A>G chr1.hg19:g.201786508A>G NA A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9 hg19 0.02 -0.263115 TTGxGAG COVERED NOVEL NAV1-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000087018.1 6 5.11474 KEEP 1 0 0 17 521 AA 0.999366 0.693229 0 + 3 60 97 1 0 7.042809 24 60 701 54 ENST00000367302.1 0.111111 0.693668 IPO9 55705 __UNKNOWN__ __UNKNOWN__ 1 201848888 201848888 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:201848888T>C ENST00000361565.4 + 0 6901 NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 NA NA protein import into nucleus (GO:0006606) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) histone binding (GO:0042393)|protein transporter activity (GO:0008565) cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 gtttaatggctgggtgtggtg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF410465 CCDS1415.1 1q31.3 2008-02-05 ENSG00000198700 ENSG00000198700 55705 Importins 19425 protein-coding gene gene with protein product NA 11823430, 10574461 Standard NM_018085 NM_018085 NA Approved Imp9, FLJ10402 uc001gwz.3 Q96P70 OTTHUMG00000035805 ENST00000361565.4:c.*3706T>C chr1.hg19:g.201848888T>C NA B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8 hg19 CCDS1415.1 0.02 1.353501 GGCxGGG COVERED NOVEL IPO9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087088.1 9 12.338288 KEEP 0 0 0 41 1324 TT 1 0.999559 0 + 4 60 130 0 0 8.085148 73 60 2213 165 ENST00000361565.4 0.051948 0.999559 TIMM17A 10440 __UNKNOWN__ __UNKNOWN__ 1 201930147 201930147 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:201930147A>G ENST00000367287.4 + 4 226 NM_006335.2 NP_006326.1 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 homolog A (yeast) NA NA cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626) integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744) P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450) kidney(1)|lung(3)|stomach(1) 5 caaagtgctgagattacaggc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF106622 CCDS1417.1 1q32.1 2008-05-23 ENSG00000134375 ENSG00000134375 10440 17315 protein-coding gene gene with protein product 605057 NA 8893850, 10339406 Standard NM_006335 NM_006335 NA Approved TIM17, TIM17A uc001gxc.3 Q99595 OTTHUMG00000035806 ENST00000367287.4:c.191-2597A>G chr1.hg19:g.201930147A>G NA B2RDM5|Q9BWF5 hg19 CCDS1417.1 0.02 -0.218936 CTGxGAT COVERED NOVEL TIMM17A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087092.1 5 3.007966 KEEP 0 0 0 10 310 AA 0.992708 0.548856 0 + 5 60 167 0 0 13.861293 18 60 514 46 ENST00000367287.4 0.217391 0.552887 ELF3 1999 __UNKNOWN__ __UNKNOWN__ 1 201978196 201978196 __UNKNOWN__ 5'UTR SNP C C T rs576497799 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:201978196C>T ENST00000359651.3 + 0 1124 RP11-465N4.4_ENST00000419190.1_RNA E74-like factor 3 (ets domain transcription factor, epithelial-specific ) NA NA breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 ccaacctgggcgacagagcga 0.448 NA C||| 3 0.000599042 0 0 5008 , , NA 17962 0.002 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF016295 CCDS1419.1 1q32.2 2008-02-05 ENSG00000163435 ENSG00000163435 1999 3318 protein-coding gene gene with protein product 602191 ESX NA 9395241, 9129154 Standard NM_004433 NM_001114309 NA Approved EPR-1, ESE-1, ERT uc001gxh.4 P78545 OTTHUMG00000035867 ENST00000359651.3:c.-2069C>T chr1.hg19:g.201978196C>T NA hg19 CCDS1419.1 0.02 1.165253 GGGxGAC COVERED NOVEL ELF3-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087360.1 16 2.241051 KEEP 0 1 21 15 540 CC 0.997832 0.99732 0 + 6 60 170 0 1 10.800021 69 60 2214 136 ENST00000359651.3 0.08 0.999487 SYT2 127833 __UNKNOWN__ __UNKNOWN__ 1 202565428 202565428 __UNKNOWN__ 3'UTR SNP C C T rs149900121 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:202565428C>T ENST00000367267.1 - 0 1909 SYT2_ENST00000367268.4_3'UTR NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II NA NA neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) cacacacacacacacacatac 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090672 CCDS1427.1 1q32.1 2013-01-21 ENSG00000143858 ENSG00000143858 127833 Synaptotagmins 11510 protein-coding gene gene with protein product 600104 NA 7749232 Standard NM_177402 NM_177402 NA Approved uc010pqb.2 Q8N9I0 OTTHUMG00000041388 ENST00000367267.1:c.*457G>A chr1.hg19:g.202565428C>T NA Q496K5|Q8NBE5 hg19 CCDS1427.1 0.02 1.07614 ACAxACA COVERED NOVEL SYT2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099157.1 14 10.467054 KEEP 1 1 26 44 1500 CC 1 0.999487 0 - 6 60 147 0 1 9.456994 48 60 1536 150 ENST00000367267.1 0.111111 0.999487 KDM5B 10765 __UNKNOWN__ __UNKNOWN__ 1 202735542 202735542 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:202735542A>G ENST00000367265.3 - 5 1876 KDM5B_ENST00000367264.2_Missense_Mutation_p.S268P NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B NA NA histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 gctgaggcagaagaattgctg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ243706 CCDS30974.1 1q32.1 2014-06-12 2009-04-06 2009-04-06 ENSG00000117139 ENSG00000117139 10765 Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type 18039 protein-coding gene gene with protein product cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98 605393 Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B JARID1B NA 11483573, 11478881 Standard NM_006618 NM_006618 NA Approved RBBP2H1A, PLU-1, CT31, PPP1R98 uc001gyf.3 Q9UGL1 OTTHUMG00000041401 ENST00000367265.3:c.711+511T>C chr1.hg19:g.202735542A>G NA O95811|Q15752|Q9Y3Q5 hg19 CCDS30974.1 0.02 -0.324462 CAGxAGA COVERED . . . . . . . . . . G 0.093 -1.164414 0.01673 . . ENSG00000117139 ENST00000367264 T 0.09163 3.01 0.694 -1.39 0.08997 . . . . . T 0.05777 0.0151 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.38972 -0.9636 7 0.35671 T 0.21 . . . . . 268 Q9UGL1-2 . P 268 ENSP00000356233:S268P ENSP00000356233:S268P S - 1 0 KDM5B 201002165 0.018000 0.18449 0.000000 0.03702 0.000000 0.00434 -0.403000 0.07214 -2.649000 0.00425 -2.645000 0.00150 TCT NOVEL KDM5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099184.2 3 3.611144 KEEP 0 0 0 12 384 AA 0.993634 0.830395 0 - 3 60 94 0 0 6.428571 31 60 896 56 ENST00000367265.3 0.088235 0.835716 TMEM183A 92703 __UNKNOWN__ __UNKNOWN__ 1 202991849 202991849 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:202991849T>G ENST00000367242.3 + 8 1025 NM_001079809.1|NM_138391.4 NP_001073277.1|NP_612400.3 Q8IXX5 T183A_HUMAN transmembrane protein 183A NA NA integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2)|lung(1)|skin(3) 7 BRCA - Breast invasive adenocarcinoma(75;0.18) aaaaaaaaGGTGTTTGTTTTA 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC013073 CCDS1432.1 1q31.1 2008-09-09 2006-12-18 2006-12-18 ENSG00000163444 ENSG00000163444 92703 20173 protein-coding gene gene with protein product chromosome 1 open reading frame 37 C1orf37 NA Standard NM_138391 NM_138391 NA Approved uc001gyu.1 Q8IXX5 OTTHUMG00000042051 ENST00000367242.3:c.946-134T>G chr1.hg19:g.202991849T>G NA A8K5W1|Q6NW15|Q96E06 hg19 CCDS1432.1 0.02 -0.194047 AGGxGTT COVERED NOVEL TMEM183A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100129.1 1 2.803745 KEEP 0 2 12 14 313 TT 0.997832 0.489481 0 + 9 60 89 0 0 6.567492 12 60 297 48 ENST00000367242.3 0.428571 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 203530998 203530998 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:203530998A>G NA NA OPTC (53006 upstream) : ATP2B4 (64690 downstream) NA NA NA gattacaggcatgagccacca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.203530998A>G NA hg19 0.02 -0.289396 GGCxTGA COVERED NOVEL 0 5 2.407129 KEEP 0 0 0 8 246 AA 0.99257 0.755234 0 3 60 98 0 0 7.092874 25 60 720 60 0.107143 0.760887 LAX1 54900 __UNKNOWN__ __UNKNOWN__ 1 203744265 203744265 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:203744265T>C ENST00000442561.2 + 0 2043 LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 NA NA antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) cagtggctcatgcctgtaatc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000347 CCDS1441.2, CCDS44297.1 1q32.1 2008-02-05 ENSG00000122188 ENSG00000122188 54900 26005 protein-coding gene gene with protein product LAT-like membrane associated protein, linker for activation of x cells NA 12359715 Standard NM_017773 NM_017773 NA Approved LAX, FLJ20340 uc001haa.3 Q8IWV1 OTTHUMG00000035908 ENST00000442561.2:c.*456T>C chr1.hg19:g.203744265T>C NA B7Z744|J3KP69|Q6NSZ6|Q9NXB4 hg19 CCDS1441.2 0.02 1.683947 TCAxGCC COVERED NOVEL LAX1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000087468.3 14 6.007464 KEEP 0 0 0 20 576 TT 0.999863 0.996096 0 + 5 60 161 0 0 10.873458 59 60 1682 118 ENST00000442561.2 0.078125 0.996233 LAX1 54900 __UNKNOWN__ __UNKNOWN__ 1 203744282 203744282 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:203744282T>C ENST00000442561.2 + 0 2060 LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 NA NA antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) aatcccagcattttggtaggc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000347 CCDS1441.2, CCDS44297.1 1q32.1 2008-02-05 ENSG00000122188 ENSG00000122188 54900 26005 protein-coding gene gene with protein product LAT-like membrane associated protein, linker for activation of x cells NA 12359715 Standard NM_017773 NM_017773 NA Approved LAX, FLJ20340 uc001haa.3 Q8IWV1 OTTHUMG00000035908 ENST00000442561.2:c.*473T>C chr1.hg19:g.203744282T>C NA B7Z744|J3KP69|Q6NSZ6|Q9NXB4 hg19 CCDS1441.2 0.02 1.730812 GCAxTTT COVERED NOVEL LAX1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000087468.3 15 6.318039 KEEP 0 0 0 21 638 TT 0.999869 0.998565 0 + 5 60 168 0 0 11.432461 63 60 1859 132 ENST00000442561.2 0.073529 0.998696 LAX1 54900 __UNKNOWN__ __UNKNOWN__ 1 203744425 203744425 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:203744425A>G ENST00000442561.2 + 0 2203 LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 NA NA antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) aggaggctgaagcaggagaat 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000347 CCDS1441.2, CCDS44297.1 1q32.1 2008-02-05 ENSG00000122188 ENSG00000122188 54900 26005 protein-coding gene gene with protein product LAT-like membrane associated protein, linker for activation of x cells NA 12359715 Standard NM_017773 NM_017773 NA Approved LAX, FLJ20340 uc001haa.3 Q8IWV1 OTTHUMG00000035908 ENST00000442561.2:c.*616A>G chr1.hg19:g.203744425A>G NA B7Z744|J3KP69|Q6NSZ6|Q9NXB4 hg19 CCDS1441.2 0.02 -0.19295 TGAxGCA COVERED NOVEL LAX1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000087468.3 1 3.307608 KEEP 0 0 0 11 339 AA 0.993072 0.454585 0 + 4 60 119 0 0 9.369248 17 60 502 40 ENST00000442561.2 0.190476 0.457757 LAX1 54900 __UNKNOWN__ __UNKNOWN__ 1 203744516 203744516 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:203744516C>A ENST00000442561.2 + 0 2294 LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 NA NA antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) gcgagactccctctcaaaaaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000347 CCDS1441.2, CCDS44297.1 1q32.1 2008-02-05 ENSG00000122188 ENSG00000122188 54900 26005 protein-coding gene gene with protein product LAT-like membrane associated protein, linker for activation of x cells NA 12359715 Standard NM_017773 NM_017773 NA Approved LAX, FLJ20340 uc001haa.3 Q8IWV1 OTTHUMG00000035908 ENST00000442561.2:c.*707C>A chr1.hg19:g.203744516C>A NA B7Z744|J3KP69|Q6NSZ6|Q9NXB4 hg19 CCDS1441.2 0.02 1.561273 TCCxTCT COVERED NOVEL LAX1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000087468.3 10 3.31072 KEEP 0 0 0 11 390 CC 0.993072 0.970098 0 + 7 60 211 1 1 15.995748 38 70 1285 80 ENST00000442561.2 0.155556 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 203853589 203853589 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:203853589A>G NA NA SNRPE (13911 upstream) : AC096645.1 (114783 downstream) NA NA NA gtgaaaccccatctctactaa 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.203853589A>G NA hg19 0.02 -0.201699 CCCxTCT COVERED NOVEL 0 8 3.008519 KEEP 7 0 0 10 301 AA 0.99257 0.4869 0 3 60 92 0 0 6.827836 19 60 552 47 0.136364 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 203919133 203919133 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:203919133A>G NA NA SNRPE (79455 upstream) : AC096645.1 (49239 downstream) NA NA NA ggaggccgagacgggtggatc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.203919133A>G NA hg19 0.02 -0.087706 GAGxCGG UNCOVERED NOVEL 0 6 2.407267 KEEP 1 0 0 8 249 AA 0.99257 0.138793 0 3 60 105 0 0 9.444013 6 60 176 28 0.333333 0.139832 PIK3C2B 5287 __UNKNOWN__ __UNKNOWN__ 1 204405395 204405395 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:204405395T>C ENST00000367187.3 - 25 4073 PIK3C2B_ENST00000424712.2_Intron NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) tggtggctcatgcctgtaatc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y11312 CCDS1446.1 1q32 2012-07-13 2012-07-13 ENSG00000133056 ENSG00000133056 5287 2.7.1.154 8972 protein-coding gene gene with protein product 602838 phosphoinositide-3-kinase, class 2, beta polypeptide NA 9144573, 9830063 Standard NM_002646 NM_002646 NA Approved C2-PI3K, PI3K-C2beta uc001haw.3 O00750 OTTHUMG00000036101 ENST00000367187.3:c.3517-1659A>G chr1.hg19:g.204405395T>C NA O95666|Q5SW99 hg19 CCDS1446.1 0.02 -0.122779 TCAxGCC COVERED NOVEL PIK3C2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087965.1 4 2.708111 KEEP 1 0 0 9 277 TT 0.99254 0.194847 0 - 3 60 100 0 0 8.382247 10 60 286 34 ENST00000367187.3 0.230769 0.196312 MDM4 4194 __UNKNOWN__ __UNKNOWN__ 1 204489141 204489141 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:204489141T>C ENST00000367182.3 + 1 127 MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000463049.1_Intron|MDM4_ENST00000367183.3_Intron NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN MDM4, p53 regulator NA NA cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821) nucleus (GO:0005634) enzyme binding (GO:0019899)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) cgcggtggcttatgcctgtaa 0.463 NA A GBM, bladder, retinoblastoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q32 4194 Mdm4 p53 binding protein homolog M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF007111 CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1 1q32 2014-03-03 2014-03-03 ENSG00000198625 ENSG00000198625 4194 6974 protein-coding gene gene with protein product 602704 mouse double minute 4, human homolog of; p53-binding protein, Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse), Mdm4 p53 binding protein homolog (mouse) NA 9226370, 14660608 Standard NM_002393 NM_002393 NA Approved MDMX, HDMX uc001hba.3 O15151 OTTHUMG00000035877 ENST00000367182.3:c.-36+3504T>C chr1.hg19:g.204489141T>C NA Q2M2Y2|Q32SL2|Q6GS18|Q8IV83 hg19 CCDS1447.1 0.02 -0.210436 GCTxATG COVERED NOVEL MDM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087415.2 9 3.008068 KEEP 4 0 0 10 289 TT 0.992708 0.518353 0 + 3 60 92 0 0 6.893201 18 60 489 56 ENST00000367182.3 0.142857 0.522161 MDM4 4194 __UNKNOWN__ __UNKNOWN__ 1 204519513 204519513 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:204519513G>A ENST00000367182.3 + 0 2338 MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN MDM4, p53 regulator NA NA cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821) nucleus (GO:0005634) enzyme binding (GO:0019899)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) ggctggtctcgaactcctggg 0.483 NA A GBM, bladder, retinoblastoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q32 4194 Mdm4 p53 binding protein homolog M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF007111 CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1 1q32 2014-03-03 2014-03-03 ENSG00000198625 ENSG00000198625 4194 6974 protein-coding gene gene with protein product 602704 mouse double minute 4, human homolog of; p53-binding protein, Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse), Mdm4 p53 binding protein homolog (mouse) NA 9226370, 14660608 Standard NM_002393 NM_002393 NA Approved MDMX, HDMX uc001hba.3 O15151 OTTHUMG00000035877 ENST00000367182.3:c.*703G>A chr1.hg19:g.204519513G>A NA Q2M2Y2|Q32SL2|Q6GS18|Q8IV83 hg19 CCDS1447.1 0.02 1.430281 CTCxAAC COVERED NOVEL MDM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087415.2 7 3.846086 KEEP 0 1 29 23 770 GG 0.999909 0.994332 0 + 5 60 137 0 0 8.663216 54 60 1638 107 ENST00000367182.3 0.084746 0.994422 MDM4 4194 __UNKNOWN__ __UNKNOWN__ 1 204521368 204521368 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:204521368C>T ENST00000367182.3 + 0 4193 MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN MDM4, p53 regulator NA NA cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821) nucleus (GO:0005634) enzyme binding (GO:0019899)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) gccattgcaccccagcctggg 0.448 NA A GBM, bladder, retinoblastoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q32 4194 Mdm4 p53 binding protein homolog M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF007111 CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1 1q32 2014-03-03 2014-03-03 ENSG00000198625 ENSG00000198625 4194 6974 protein-coding gene gene with protein product 602704 mouse double minute 4, human homolog of; p53-binding protein, Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse), Mdm4 p53 binding protein homolog (mouse) NA 9226370, 14660608 Standard NM_002393 NM_002393 NA Approved MDMX, HDMX uc001hba.3 O15151 OTTHUMG00000035877 ENST00000367182.3:c.*2558C>T chr1.hg19:g.204521368C>T NA Q2M2Y2|Q32SL2|Q6GS18|Q8IV83 hg19 CCDS1447.1 0.02 7.207144 CACxCCA COVERED NOVEL MDM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087415.2 46 19.398064 KEEP 2 1 33 76 2738 CC 1 1 0 + 12 60 362 0 0 21.351701 224 60 7700 549 ENST00000367182.3 0.050847 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 205047651 205047651 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:205047651T>C NA NA CNTN2 (24 upstream) : TMEM81 (4606 downstream) NA NA NA gagacagagtttcgctcttgt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.205047651T>C NA hg19 0.02 -0.359555 AGTxTCG COVERED NOVEL 0 4 4.208106 KEEP 0 0 0 14 428 TT 0.995343 0.884736 0 3 60 103 0 0 7.248777 33 60 961 66 0.083333 0.888875 DSTYK 25778 __UNKNOWN__ __UNKNOWN__ 1 205112448 205112448 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:205112448C>G ENST00000367162.3 - 0 7058 DSTYK_ENST00000367160.4_3'UTR|DSTYK_ENST00000367161.3_3'UTR NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase NA NA cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 ctaattttttctatttttaat 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF068286 CCDS1451.1, CCDS1452.1 1q32 2008-12-18 2008-12-18 2008-12-18 ENSG00000133059 ENSG00000133059 25778 29043 protein-coding gene gene with protein product 612666 receptor interacting protein kinase 5 RIPK5 NA 15178406 Standard NM_015375 NM_015375 NA Approved KIAA0472, DustyPK, RIP5 uc001hbw.3 Q6XUX3 OTTHUMG00000037102 ENST00000367162.3:c.*4238G>C chr1.hg19:g.205112448C>G NA B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5 hg19 CCDS1451.1 0.02 -0.166659 TTTxTAT COVERED NOVEL DSTYK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090345.1 1 2.407738 KEEP 0 0 0 8 272 CC 0.99257 0.384528 0 - 3 60 102 1 0 8.191626 14 60 443 29 ENST00000367162.3 0.176471 0.387407 DSTYK 25778 __UNKNOWN__ __UNKNOWN__ 1 205151267 205151267 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:205151267C>G ENST00000367162.3 - 2 685 DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Intron NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase NA NA cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 ggtggctcatccctgtaatcc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF068286 CCDS1451.1, CCDS1452.1 1q32 2008-12-18 2008-12-18 2008-12-18 ENSG00000133059 ENSG00000133059 25778 29043 protein-coding gene gene with protein product 612666 receptor interacting protein kinase 5 RIPK5 NA 15178406 Standard NM_015375 NM_015375 NA Approved KIAA0472, DustyPK, RIP5 uc001hbw.3 Q6XUX3 OTTHUMG00000037102 ENST00000367162.3:c.654+5278G>C chr1.hg19:g.205151267C>G NA B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5 hg19 CCDS1451.1 0.02 -0.219313 CATxCCT COVERED NOVEL DSTYK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090345.1 5 2.407912 KEEP 0 0 0 8 288 CC 0.99257 0.578599 0 - 4 60 136 0 0 10.813017 20 60 673 50 ENST00000367162.3 0.166667 0.58293 LEMD1 93273 __UNKNOWN__ __UNKNOWN__ 1 205380100 205380100 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:205380100G>A ENST00000367153.4 - 4 373 LEMD1_ENST00000391936.2_Intron|LEMD1_ENST00000367152.1_Intron|LEMD1_ENST00000367151.2_Intron|LEMD1_ENST00000476884.1_Intron|LEMD1_ENST00000367154.1_Intron|LEMD1_ENST00000367149.3_Intron NM_001199050.1 NP_001185979.1 Q68G75 LEMD1_HUMAN LEM domain containing 1 NA NA integral component of membrane (GO:0016021) breast(1)|lung(2) 3 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) aaagaaagaaggaaagaaagg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1 1q32.1 2009-03-25 ENSG00000186007 ENSG00000186007 93273 18725 protein-coding gene gene with protein product cancer/testis antigen 50 610480 NA 15254688 Standard NM_001001552 NM_001199050 NA Approved LEMP-1, CT50 uc001hcj.2 Q68G75 OTTHUMG00000037201 ENST00000367153.4:c.270+5259C>T chr1.hg19:g.205380100G>A NA Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4 hg19 CCDS55679.1 0.02 -0.140359 GAAxGAA COVERED NOVEL LEMD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090401.1 4 2.407592 KEEP 0 0 0 8 291 GG 0.99257 0.259026 0 - 3 60 96 0 0 7.772027 12 60 405 32 ENST00000367153.4 0.2 0.260965 ELK4 2005 __UNKNOWN__ __UNKNOWN__ 1 205591782 205591782 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:205591782C>G ENST00000357992.4 - 2 547 ELK4_ENST00000468523.1_Intron|ELK4_ENST00000289703.4_Intron NM_001973.3 NP_001964.2 P28324 ELK4_HUMAN ELK4, ETS-domain protein (SRF accessory protein 1) NA NA cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) aaagtgctggcattacaggca 0.443 NA T SLC45A3 prostate NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q32 2005 ELK4, ETS-domain protein (SRF accessory protein 1) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M85165 CCDS1456.1, CCDS1457.1 1q32 2008-02-05 ENSG00000158711 ENSG00000158711 2005 3326 protein-coding gene gene with protein product 600246 NA 7851904, 8575773 Standard NM_021795 NM_001973 NA Approved SAP1 P28324 OTTHUMG00000037221 ENST00000357992.4:c.207+1021G>C chr1.hg19:g.205591782C>G NA P28323|Q6GSJ2 hg19 CCDS1456.1 0.02 -0.18289 TGGxATT COVERED NOVEL ELK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090615.1 6 3.009634 KEEP 0 0 0 10 339 CC 0.992708 0.454419 0 - 3 60 91 0 0 6.804124 18 60 527 41 ENST00000357992.4 0.142857 0.457757 SLC41A1 254428 __UNKNOWN__ __UNKNOWN__ 1 205777067 205777067 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:205777067A>G ENST00000367137.3 - 2 1387 NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation transmembrane transporter activity (GO:0008324) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) ttacaggcataagccaccatg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ514402 CCDS30988.1 1q32.1 2013-07-17 2013-07-17 ENSG00000133065 ENSG00000133065 254428 Solute carriers 19429 protein-coding gene gene with protein product 610801 NA 12810078, 18367447 Standard NM_173854 NA Approved MgtE uc001hdh.1 Q8IVJ1 OTTHUMG00000036000 ENST00000367137.3:c.372+2130T>C chr1.hg19:g.205777067A>G NA Q63HJ4|Q658Z5|Q659A4|Q6MZK2 hg19 CCDS30988.1 0.02 -0.350729 CATxAGC COVERED NOVEL SLC41A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087731.1 18 2.707492 KEEP 1 0 0 9 266 AA 0.99254 0.87116 0 - 3 60 100 0 0 7.198008 27 60 741 63 ENST00000367137.3 0.1 0.877708 EIF2D 1939 __UNKNOWN__ __UNKNOWN__ 1 206783840 206783840 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:206783840T>C ENST00000271764.2 - 2 456 EIF2D_ENST00000367114.3_Intron NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D NA NA formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790) cytoplasm (GO:0005737)|nucleus (GO:0005634) receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743) autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 ccactgcacttcagcctgggt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC001585 CCDS1465.1, CCDS55680.1 1q32.1 2014-05-06 2011-01-19 2011-01-19 ENSG00000143486 ENSG00000143486 1939 6583 protein-coding gene gene with protein product 613709 NA 20566627 Standard NM_006893 NM_001201478 NA Approved LGTN uc001heh.2 P41214 OTTHUMG00000184619 ENST00000271764.2:c.247+696A>G chr1.hg19:g.206783840T>C NA Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21 hg19 CCDS1465.1 0.02 -0.236434 ACTxCAG COVERED NOVEL EIF2D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088475.1 10 2.708331 KEEP 0 0 0 9 287 TT 0.99254 0.607839 0 - 3 60 91 0 0 6.608924 21 60 580 44 ENST00000271764.2 0.125 0.612407 IL24 11009 __UNKNOWN__ __UNKNOWN__ 1 207071223 207071223 __UNKNOWN__ Splice_Site SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:207071223T>C ENST00000391929.3 + 2 319 c.e2+2 IL24_ENST00000491169.1_Intron|IL24_ENST00000294984.2_Splice_Site|IL24_ENST00000367093.3_Splice_Site Q13007 IL24_HUMAN interleukin 24 NA NA apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615) endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) TTTAgccaggtgcggtggctc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 90 90 90 NA NA NA 1 NA NA 207071223 2203 4300 6503 SO:0001630 splice_region_variant U16261 CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1 1q32 2011-07-15 2001-06-29 ENSG00000162892 ENSG00000162892 11009 Interleukins and interleukin receptors 11346 protein-coding gene gene with protein product melanoma differentiation association protein 7, suppression of tumorigenicity 16 (melanoma differentiation), IL-4-induced secreted protein 604136 ST16 NA 8545104, 8799171 Standard NM_006850 NM_001185156 NA Approved mda-7, IL10B, Mob-5, C49A, FISP, IL-24 uc001heu.2 Q13007 OTTHUMG00000036459 ENST00000391929.3:c.44+2T>C chr1.hg19:g.207071223T>C NA Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4 hg19 CCDS53465.1 0.02 1.529043 AGGxGCG COVERED NOVEL IL24-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000088681.2 9 16.835081 KEEP 0 0 0 56 1743 TT 1 0.999956 0 Intron + 4 60 142 0 0 9.005476 86 60 2593 196 ENST00000391929.3 0.044444 0.999956 FAIM3 9214 __UNKNOWN__ __UNKNOWN__ 1 207091229 207091229 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:207091229T>C ENST00000367091.3 - 2 181 FAIM3_ENST00000420007.2_Intron|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 NA NA cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066) extracellular region (GO:0005576)|integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) tcccaaagtgttgggattaca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF057557 CCDS1473.1, CCDS44304.1 1q32.1 2013-01-11 ENSG00000162894 ENSG00000162894 9214 Immunoglobulin superfamily / Immunoglobulin-like domain containing 14315 protein-coding gene gene with protein product 606015 NA 9586636, 1563211 Standard NM_005449 NM_005449 NA Approved TOSO uc001hey.3 O60667 OTTHUMG00000036457 ENST00000367091.3:c.38-3790A>G chr1.hg19:g.207091229T>C NA A8K7J2|B7Z6Z0|D9MWM3 hg19 CCDS1473.1 0.02 -0.280613 GTGxTGG COVERED NOVEL FAIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088677.1 7 2.407386 KEEP 1 0 0 8 254 TT 0.99257 0.755234 0 - 3 60 106 0 0 7.942563 24 60 673 52 ENST00000367091.3 0.111111 0.760887 C4BPB 725 __UNKNOWN__ __UNKNOWN__ 1 207268761 207268761 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:207268761C>T ENST00000243611.5 + 4 703 C4BPB_ENST00000391923.1_Intron|C4BPB_ENST00000367078.3_Intron|C4BPB_ENST00000451804.2_Missense_Mutation_p.H169Y|C4BPB_ENST00000367076.3_Intron NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta NA NA blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027) extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886) breast(2)|lung(1)|ovary(1) 4 ctgcaacctccacctcccagg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L11245 CCDS1476.1, CCDS31005.1 1q32 2008-07-18 2001-11-28 ENSG00000123843 ENSG00000123843 725 1328 protein-coding gene gene with protein product complement component 4 binding protein, beta chain, C4b binding protein, beta chain 120831 complement component 4-binding protein, beta C4BP NA 2300577, 8325877 Standard NM_000716 XM_005273255 NA Approved uc001hfj.3 P20851 OTTHUMG00000036035 ENST00000243611.5:c.410-1106C>T chr1.hg19:g.207268761C>T NA A5JYP8|D3DT81|Q5VVR0|Q9BS25 hg19 CCDS1476.1 0.02 3.169516 CTCxACC COVERED . . . . . . . . . . C 0.010 -1.755560 0.00663 . . ENSG00000123843 ENST00000451804 T 0.14266 2.52 0.225 0.225 0.15325 . . . . . T 0.04272 0.0118 . . . 0.09310 N 1 B;B 0.22983 0.078;0.078 B;B 0.13407 0.009;0.009 T 0.42155 -0.9468 7 0.02654 T 1 . . . . . 169;169 E7EQT9;B4DDY0 .;. Y 169 ENSP00000405649:H169Y ENSP00000405649:H169Y H + 1 0 C4BPB 205335384 0.003000 0.15002 0.022000 0.16811 0.023000 0.10783 0.305000 0.19254 0.300000 0.22699 0.305000 0.20034 CAC NOVEL C4BPB-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000087847.2 3 21.657588 KEEP 0 0 0 72 2327 CC 1 0.999981 0 + 6 60 174 0 0 10.764517 82 60 2654 180 ENST00000243611.5 0.068182 0.999981 CR1 1378 __UNKNOWN__ __UNKNOWN__ 1 207813486 207813486 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:207813486T>C ENST00000367051.1 + 0 6963 CR1_ENST00000367052.1_3'UTR|CR1_ENST00000367053.1_3'UTR|CR1_ENST00000400960.2_3'UTR P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) NA NA complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ttttttgagatggagtctggc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y00816 CCDS44308.1, CCDS44309.1 1q32 2014-07-19 2006-01-12 ENSG00000203710 ENSG00000203710 1378 CD molecules, Blood group antigens, Complement system 2334 protein-coding gene gene with protein product 120620 complement component (3b/4b) receptor 1, including Knops blood group system NA 1708809 Standard NM_000573 XM_005273064 NA Approved CD35, KN uc001hfx.3 P17927 OTTHUMG00000036311 ENST00000367051.1:c.*732T>C chr1.hg19:g.207813486T>C NA Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2 hg19 0.02 3.487978 AGAxGGA COVERED NOVEL CR1-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000088499.1 39 18.452443 KEEP 1 3 111 100 3085 TT 1 1 0 + 7 60 241 2 1 15.680759 120 60 3573 348 ENST00000367051.1 0.055118 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 207912501 207912501 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:207912501T>G NA NA CR1L (15453 upstream) : CD46 (12900 downstream) NA NA NA ttgagacggattcttgctctg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.207912501T>G NA hg19 0.02 1.800952 GGAxTCT COVERED NOVEL 0 6 21.967171 KEEP 0 0 0 73 2359 TT 1 0.995687 0 4 60 140 1 0 9.529079 56 60 1675 174 0.066667 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 211768233 211768233 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:211768233T>C NA NA RP11-359E8.5 (11166 upstream) : RP11-354K1.2 (41014 downstream) NA NA NA cagtggctcatgcctgtaatc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.211768233T>C NA hg19 0.02 -0.263122 TCAxGCC COVERED NOVEL 0 5 2.407196 KEEP 0 0 0 8 249 TT 0.99257 0.688515 0 3 28 97 0 0 7.094924 23 60 679 56 0.115385 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 211831912 211831912 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:211831912T>G NA NA RP11-354K1.1 (4394 upstream) : NEK2 (4201 downstream) NA NA NA cttgagcccatgagttcaaga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.211831912T>G NA hg19 0.02 1.892067 CCAxGAG COVERED NOVEL 0 10 4.512962 KEEP 0 0 0 15 452 TT 0.99649 0.992736 0 4 60 141 0 0 9.542004 59 60 1654 117 0.063492 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 211836088 211836088 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:211836088A>G NA NA RP11-354K1.1 (8570 upstream) : NEK2 (25 downstream) NA NA NA ATCAACTAAGAGACCAACAAA 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.211836088A>G NA hg19 0.02 1.757061 AAGxGAC COVERED NOVEL 0 4 24.074112 KEEP 0 0 0 80 2589 AA 1 0.997553 0 27 60 905 0 0 83.543863 41 60 1248 207 0.397059 0.997553 NEK2 4751 __UNKNOWN__ __UNKNOWN__ 1 211839898 211839898 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:211839898A>T ENST00000366999.4 - 7 1250 NEK2_ENST00000366998.3_3'UTR|NEK2_ENST00000540251.1_Intron|NEK2_ENST00000462283.1_Intron NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 NA NA blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307) centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674) breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) atcccagcacattgggaggcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U11050 CCDS1500.1, CCDS55682.1, CCDS73024.1 1q32.3 2014-06-12 2012-11-15 ENSG00000117650 ENSG00000117650 4751 7745 protein-coding gene gene with protein product HsPK 21, protein phosphatase 1, regulatory subunit 111 604043 NIMA (never in mitosis gene a)-related kinase 2 NA 8274451, 24043777 Standard NM_002497 NM_002497 NA Approved NLK1, NEK2A, RP67, PPP1R111 uc001hir.2 P51955 OTTHUMG00000037121 ENST00000366999.4:c.1111+549T>A chr1.hg19:g.211839898A>T NA Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9 hg19 CCDS1500.1 0.02 1.473813 CACxTTG COVERED NOVEL NEK2-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090154.1 3 8.123018 KEEP 1 0 0 27 799 AA 0.999988 0.986141 0 - 4 60 126 0 0 8.321286 50 60 1381 106 ENST00000366999.4 0.074074 0.986153 NEK2 4751 __UNKNOWN__ __UNKNOWN__ 1 211846750 211846750 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:211846750T>C ENST00000366999.4 - 3 694 NEK2_ENST00000366998.3_Intron|NEK2_ENST00000540251.1_Intron NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 NA NA blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307) centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674) breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) agcgagactctgtctcaaaaa 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U11050 CCDS1500.1, CCDS55682.1, CCDS73024.1 1q32.3 2014-06-12 2012-11-15 ENSG00000117650 ENSG00000117650 4751 7745 protein-coding gene gene with protein product HsPK 21, protein phosphatase 1, regulatory subunit 111 604043 NIMA (never in mitosis gene a)-related kinase 2 NA 8274451, 24043777 Standard NM_002497 NM_002497 NA Approved NLK1, NEK2A, RP67, PPP1R111 uc001hir.2 P51955 OTTHUMG00000037121 ENST00000366999.4:c.555+74A>G chr1.hg19:g.211846750T>C NA Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9 hg19 CCDS1500.1 0.02 1.683899 CTCxGTC COVERED NOVEL NEK2-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090154.1 8 6.319315 KEEP 1 0 0 21 674 TT 0.999869 0.996102 0 - 4 60 132 0 0 8.643431 59 60 1745 129 ENST00000366999.4 0.063492 0.996233 RP11-552D8.1 0 __UNKNOWN__ __UNKNOWN__ 1 212009445 212009445 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:212009445G>A ENST00000457272.1 + 0 241 RP11-552D8.1_ENST00000429499.1_RNA|RP11-552D8.1_ENST00000430623.1_RNA|RP11-552D8.1_ENST00000446560.1_RNA NA NA NA gattacaggcgtgagccaccg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000457272.1: chr1.hg19:g.212009445G>A NA hg19 0.02 -0.219185 GGCxTGA COVERED NOVEL RP11-552D8.1-001 KNOWN basic antisense NA antisense OTTHUMT00000090157.1 9 3.000288 KEEP 3 0 0 10 335 GG 0.992708 0.548856 0 + 3 60 92 0 0 6.766068 20 60 633 52 ENST00000457272.1 0.130435 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 212338077 212338077 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:212338077C>T NA NA DTL (59729 upstream) : RP11-15I11.2 (3471 downstream) NA NA NA gcactccagcctgggcaacag 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.212338077C>T NA hg19 0.02 -0.140355 AGCxTGG COVERED NOVEL 0 7 2.709005 KEEP 0 0 0 9 336 CC 0.99254 0.259018 0 3 60 89 0 0 7.072267 12 60 417 34 0.2 0.260965 FLVCR1 28982 __UNKNOWN__ __UNKNOWN__ 1 213070404 213070404 __UNKNOWN__ 3'UTR SNP A A G rs71147045|rs139039905 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:213070404A>G ENST00000366971.4 + 0 3638 NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 NA NA blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) heme transporter activity (GO:0015232)|transporter activity (GO:0005215) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) ccagctactcaggaggctgag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(199;2235 2952 19233 26256) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF118637 CCDS1510.1 1q32.3 2014-05-30 ENSG00000162769 ENSG00000162769 28982 Solute carriers 24682 protein-coding gene gene with protein product 609144 ataxia, posterior column 1, with retinitis pigmentosa AXPC1 NA 10400745, 10648427, 21070897 Standard NM_014053 NM_014053 NA Approved FLVCR, MFSD7B, PCA uc001hjt.3 Q9Y5Y0 OTTHUMG00000036924 ENST00000366971.4:c.*1772A>G chr1.hg19:g.213070404A>G NA Q1HE16|Q86XY9|Q9NVR9 hg19 CCDS1510.1 0.02 -0.377158 CTCxGGA COVERED NOVEL FLVCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089678.2 8 3.009414 KEEP 0 0 0 10 323 AA 0.992708 0.90244 0 + 4 60 125 0 0 8.811982 35 60 1065 84 ENST00000366971.4 0.102564 0.909069 RPS6KC1 26750 __UNKNOWN__ __UNKNOWN__ 1 213291115 213291115 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:213291115T>A ENST00000366959.3 + 4 586 RPS6KC1_ENST00000490299.1_Intron|RPS6KC1_ENST00000366960.3_Intron|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_Intron NM_001136138.1 NP_001129610.1 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) ctgtaatccctgcactttggg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF037447 CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1 1q41 2011-04-05 2002-08-29 ENSG00000136643 ENSG00000136643 26750 10439 protein-coding gene gene with protein product ribosomal protein S6 kinase, 52kD, polypeptide 1 NA 10552933 Standard NM_012424 XM_005273095 NA Approved humS6PKh1 uc010ptr.2 Q96S38 OTTHUMG00000036926 ENST00000366959.3:c.436+363T>A chr1.hg19:g.213291115T>A NA B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66 hg19 CCDS44317.1 0.02 -0.140322 CCCxGCA COVERED NOVEL RPS6KC1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089691.1 4 2.407426 KEEP 0 0 0 8 256 TT 0.99257 0.289832 0 + 3 60 83 0 0 6.682168 10 60 306 38 ENST00000366959.3 0.230769 0.292001 PTPN14 5784 __UNKNOWN__ __UNKNOWN__ 1 214656690 214656690 __UNKNOWN__ Intron SNP G G A rs61742725 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:214656690G>A ENST00000366956.5 - 2 41 NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 NA NA lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGAGAGCCGCGGCTTCCCGTG 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(92;557 1424 24372 34121 40073) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X82676 CCDS1514.1 1q32.2 2011-06-09 ENSG00000152104 ENSG00000152104 5784 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9647 protein-coding gene gene with protein product 603155 NA 7733990 Standard NM_005401 NM_005401 NA Approved PEZ uc001hkk.2 Q15678 OTTHUMG00000037039 ENST00000366956.5:c.154-18390C>T chr1.hg19:g.214656690G>A NA Q5VSI0 hg19 CCDS1514.1 0.02 1.295704 CGCxGCT COVERED NOVEL PTPN14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089918.2 13 6.387165 KEEP 0 2 62 43 1473 GG 1 0.995687 0 - 11 60 329 0 0 25.159876 56 60 1850 159 ENST00000366956.5 0.164179 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 215729646 215729646 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:215729646T>C NA NA KCNK2 (319210 upstream) : KCTD3 (11088 downstream) NA NA NA gctgggattataggcgtgagc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.215729646T>C NA hg19 0.02 -0.219239 TTAxAGG COVERED NOVEL 0 3 2.70809 KEEP 0 0 0 9 277 TT 0.99254 0.548763 0 3 60 102 0 0 7.764991 20 60 569 53 0.130435 0.552887 KCTD3 51133 __UNKNOWN__ __UNKNOWN__ 1 215742732 215742732 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:215742732A>G ENST00000259154.4 + 1 377 NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 NA NA protein homooligomerization (GO:0051260) breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) aaagtgctggaattacaggcg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024547 CCDS1515.1 1q41 2013-06-20 2013-06-20 ENSG00000136636 ENSG00000136636 51133 21305 protein-coding gene gene with protein product 613272 potassium channel tetramerisation domain containing 3 NA 10508479 Standard NM_016121 NM_016121 NA Approved NY-REN-45 uc001hks.3 Q9Y597 OTTHUMG00000037019 ENST00000259154.4:c.83+1621A>G chr1.hg19:g.215742732A>G NA A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16 hg19 CCDS1515.1 0.02 -0.184186 TGGxATT COVERED NOVEL KCTD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089871.2 4 2.707801 KEEP 1 0 0 9 275 AA 0.99254 0.420319 0 + 5 60 169 0 0 14.530871 14 60 409 48 ENST00000259154.4 0.263158 0.423478 KCTD3 51133 __UNKNOWN__ __UNKNOWN__ 1 215753120 215753120 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:215753120T>C ENST00000259154.4 + 8 829 NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 NA NA protein homooligomerization (GO:0051260) breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) ggattacaggtgtgagccact 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024547 CCDS1515.1 1q41 2013-06-20 2013-06-20 ENSG00000136636 ENSG00000136636 51133 21305 protein-coding gene gene with protein product 613272 potassium channel tetramerisation domain containing 3 NA 10508479 Standard NM_016121 NM_016121 NA Approved NY-REN-45 uc001hks.3 Q9Y597 OTTHUMG00000037019 ENST00000259154.4:c.536-132T>C chr1.hg19:g.215753120T>C NA A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16 hg19 CCDS1515.1 0.02 3.283163 AGGxGTG COVERED NOVEL KCTD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089871.2 17 9.461337 KEEP 0 1 39 45 1333 TT 1 1 0 + 8 60 267 0 0 18.173187 99 60 2768 231 ENST00000259154.4 0.074766 1 SPATA17 128153 __UNKNOWN__ __UNKNOWN__ 1 217806277 217806277 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:217806277T>C ENST00000366933.4 + 1 123 NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 NA NA cytoplasm (GO:0005737) endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) cagtggctcatgcctgtaatc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098591 CCDS1519.1 1q41 2008-02-05 ENSG00000162814 ENSG00000162814 128153 25184 protein-coding gene gene with protein product IQ motif containing H 611032 NA 16395525 Standard NM_138796 NM_138796 NA Approved IQCH uc001hlh.1 Q96L03 OTTHUMG00000037875 ENST00000366933.4:c.68+1489T>C chr1.hg19:g.217806277T>C NA A5D6N2 hg19 CCDS1519.1 0.02 -0.078909 TCAxGCC UNCOVERED NOVEL SPATA17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092433.2 5 2.708336 KEEP 0 0 0 9 287 TT 0.99254 0.076759 0 + 3 60 94 0 0 8.533353 5 60 135 23 ENST00000366933.4 0.375 0.077336 SPATA17 128153 __UNKNOWN__ __UNKNOWN__ 1 217806305 217806305 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:217806305A>C ENST00000366933.4 + 1 123 NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 NA NA cytoplasm (GO:0005737) endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) tttgggaggcagaggcagatg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098591 CCDS1519.1 1q41 2008-02-05 ENSG00000162814 ENSG00000162814 128153 25184 protein-coding gene gene with protein product IQ motif containing H 611032 NA 16395525 Standard NM_138796 NM_138796 NA Approved IQCH uc001hlh.1 Q96L03 OTTHUMG00000037875 ENST00000366933.4:c.68+1517A>C chr1.hg19:g.217806305A>C NA A5D6N2 hg19 CCDS1519.1 0.02 -0.043851 GGCxGAG UNCOVERED NOVEL SPATA17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092433.2 2 2.407579 KEEP 0 0 0 8 262 AA 0.99257 0.023895 0 + 2 60 72 0 0 6.693266 3 60 85 22 ENST00000366933.4 0.4 0.024074 RRP15 51018 __UNKNOWN__ __UNKNOWN__ 1 218507109 218507109 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:218507109T>G ENST00000366932.3 + 0 3555 NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) NA NA mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) ccaaagtgcttggattacagg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1520.2 1q41 2008-02-05 ENSG00000067533 ENSG00000067533 51018 24255 protein-coding gene gene with protein product 611193 KIAA0507 KIAA0507 NA 15769876 Standard NM_016052 NM_016052 NA Approved CGI-115 uc001hlj.3 Q9Y3B9 OTTHUMG00000039494 ENST00000366932.3:c.*2676T>G chr1.hg19:g.218507109T>G NA hg19 CCDS1520.2 0.02 1.970812 GCTxGGA COVERED NOVEL RRP15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095284.1 11 6.919334 KEEP 0 0 0 23 697 TT 0.999892 0.986047 0 + 7 60 228 0 0 17.221814 45 60 1313 108 ENST00000366932.3 0.134615 0.986153 C1orf143 440714 __UNKNOWN__ __UNKNOWN__ 1 218696775 218696775 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:218696775A>G ENST00000443836.1 + 2 173 c.173A>G c.(172-174)cAa>cGa p.Q58R chromosome 1 open reading frame 143 NA NA NA tcagcctcccaagtagctggg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 1q41 2013-03-14 ENSG00000228208 ENSG00000228208 440714 32045 other unknown NA Standard NA Approved OTTHUMG00000039569 ENST00000443836.1:c.173A>G chr1.hg19:g.218696775A>G ENSP00000415902:p.Gln58Arg NA hg19 0.02 3.373515 CCCxAGT COVERED . . . . . . . . . . A 3.449 -0.112342 0.06881 . . ENSG00000228208 ENST00000443836 T 0.14766 2.48 0.294 0.294 0.15747 . . . . . T 0.04861 0.0131 . . . . . . . . . . . . T 0.43393 -0.9394 4 0.06099 T 0.92 . . . . . . . . R 58 ENSP00000415902:Q58R ENSP00000415902:Q58R Q + 2 0 C1orf143 216763398 0.045000 0.20229 0.639000 0.29394 0.797000 0.45037 -0.176000 0.09811 0.349000 0.23975 0.338000 0.21704 CAA NOVEL C1orf143-001 PUTATIVE mRNA_start_NF|cds_start_NF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000095456.2 15 7.792967 KEEP 2 2 72 51 1578 AA 1 1 0 + 7 60 216 0 0 13.722889 100 60 2952 248 ENST00000443836.1 0.065421 1 BPNT1 10380 __UNKNOWN__ __UNKNOWN__ 1 220231258 220231258 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:220231258A>G ENST00000469520.2 - 0 2304 BPNT1_ENST00000354807.3_Splice_Site_p.V291A|BPNT1_ENST00000322067.7_3'UTR O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 NA NA 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287) breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) ggtggctcacacctgtaatcc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF125042 CCDS41469.1, CCDS65787.1, CCDS65788.1 1q42 2008-02-05 ENSG00000162813 ENSG00000162813 10380 3.1.3.7 1096 protein-coding gene gene with protein product 604053 NA 10224133 Standard NM_006085 XM_005272998 NA Approved uc001hma.3 O95861 OTTHUMG00000037435 ENST00000469520.2:c.*928T>C chr1.hg19:g.220231258A>G NA A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3 hg19 CCDS41469.1 0.02 5.502262 CACxCCT COVERED . . . . . . . . . . A 6.966 0.548251 0.13312 . . ENSG00000162813 ENST00000354807 T 0.75154 -0.91 0.149 -0.298 0.12814 . . . . . T 0.80347 0.4606 . . . 0.09310 N 1 D 0.89917 1.0 D 0.69824 0.966 T 0.68454 -0.5404 7 0.87932 D 0 . . . . . 291 A6NF51 . A 291 ENSP00000346862:V291A ENSP00000346862:V291A V - 2 0 BPNT1 218297881 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -2.033000 0.01425 -1.221000 0.02591 -1.232000 0.01568 GTG NOVEL BPNT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091137.2 31 16.239655 KEEP 1 3 103 90 2683 AA 1 1 0 - 8 60 254 0 0 15.642041 145 60 4252 381 ENST00000469520.2 0.052288 1 BPNT1 10380 __UNKNOWN__ __UNKNOWN__ 1 220231283 220231283 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:220231283T>G ENST00000469520.2 - 0 2279 BPNT1_ENST00000354807.3_Intron|BPNT1_ENST00000322067.7_3'UTR O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 NA NA 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287) breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) actttgggagtccgaggcaga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 2 1 1 NA NA NA 1 NA NA 220231283 271 482 753 SO:0001624 3_prime_UTR_variant AF125042 CCDS41469.1, CCDS65787.1, CCDS65788.1 1q42 2008-02-05 ENSG00000162813 ENSG00000162813 10380 3.1.3.7 1096 protein-coding gene gene with protein product 604053 NA 10224133 Standard NM_006085 XM_005272998 NA Approved uc001hma.3 O95861 OTTHUMG00000037435 ENST00000469520.2:c.*903A>C chr1.hg19:g.220231283T>G NA A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3 hg19 CCDS41469.1 0.02 3.86823 GAGxCCG COVERED NOVEL BPNT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091137.2 13 8.102701 KEEP 1 3 100 62 1964 TT 1 0.999997 0 - 7 60 216 0 0 13.81511 97 60 2915 234 ENST00000469520.2 0.067308 0.999997 BPNT1 10380 __UNKNOWN__ __UNKNOWN__ 1 220232151 220232151 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:220232151A>G ENST00000469520.2 - 0 1411 BPNT1_ENST00000414869.2_3'UTR|BPNT1_ENST00000544404.1_3'UTR|BPNT1_ENST00000354807.3_Intron|BPNT1_ENST00000322067.7_3'UTR O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 NA NA 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287) breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) gattacaggcatgagccaccg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 54 53 53 NA NA NA 1 NA NA 220232151 1858 4097 5955 SO:0001624 3_prime_UTR_variant AF125042 CCDS41469.1, CCDS65787.1, CCDS65788.1 1q42 2008-02-05 ENSG00000162813 ENSG00000162813 10380 3.1.3.7 1096 protein-coding gene gene with protein product 604053 NA 10224133 Standard NM_006085 XM_005272998 NA Approved uc001hma.3 O95861 OTTHUMG00000037435 ENST00000469520.2:c.*35T>C chr1.hg19:g.220232151A>G NA A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3 hg19 CCDS41469.1 0.02 5.335606 GGCxTGA COVERED NOVEL BPNT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091137.2 23 21.819698 KEEP 3 2 67 96 2994 AA 1 1 0 - 6 60 201 0 0 11.654351 167 60 4918 389 ENST00000469520.2 0.034682 1 BPNT1 10380 __UNKNOWN__ __UNKNOWN__ 1 220232160 220232160 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:220232160C>T ENST00000469520.2 - 0 1402 BPNT1_ENST00000414869.2_3'UTR|BPNT1_ENST00000544404.1_3'UTR|BPNT1_ENST00000354807.3_Intron|BPNT1_ENST00000322067.7_3'UTR O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 NA NA 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287) breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) catgagccaccgcgcccggcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 64 62 63 NA NA NA 1 NA NA 220232160 1863 4101 5964 SO:0001624 3_prime_UTR_variant AF125042 CCDS41469.1, CCDS65787.1, CCDS65788.1 1q42 2008-02-05 ENSG00000162813 ENSG00000162813 10380 3.1.3.7 1096 protein-coding gene gene with protein product 604053 NA 10224133 Standard NM_006085 XM_005272998 NA Approved uc001hma.3 O95861 OTTHUMG00000037435 ENST00000469520.2:c.*26G>A chr1.hg19:g.220232160C>T NA A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3 hg19 CCDS41469.1 0.02 4.225385 CACxGCG COVERED NOVEL BPNT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091137.2 23 26.573335 KEEP 2 1 30 99 3345 CC 1 1 0 - 7 60 212 0 0 11.76252 170 60 5514 396 ENST00000469520.2 0.039548 1 IARS2 55699 __UNKNOWN__ __UNKNOWN__ 1 220277946 220277946 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:220277946T>C ENST00000366922.1 + 8 1181 IARS2_ENST00000302637.5_Intron Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial NA NA gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822) NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) aggctggtcttgaactcctgg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022665 CCDS1523.1 1q41 2011-07-01 2007-02-26 ENSG00000067704 ENSG00000067704 55699 6.1.1.5 Aminoacyl tRNA synthetases / Class I 29685 protein-coding gene gene with protein product isoleucine tRNA ligase 2, mitochondrial 612801 NA Standard NM_018060 NM_018060 NA Approved FLJ10326 uc001hmc.3 Q9NSE4 OTTHUMG00000037287 ENST00000366922.1:c.850+1042T>C chr1.hg19:g.220277946T>C NA B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42 hg19 0.02 -0.219264 TCTxGAA COVERED NOVEL IARS2-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000090761.1 5 3.610281 KEEP 0 0 0 12 355 TT 0.993634 0.549368 0 + 3 60 103 0 0 7.926854 19 60 555 52 ENST00000366922.1 0.136364 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 222785342 222785342 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:222785342A>G NA NA RP11-378J18.3 (18968 upstream) : MIA3 (6085 downstream) NA NA NA ccaaagtgctaggattacagg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.222785342A>G NA hg19 0.02 -0.219279 GCTxGGA COVERED NOVEL 0 8 2.406106 KEEP 0 0 0 8 243 AT 0.99254 0.548763 0 4 60 136 0 0 10.894335 19 60 567 45 0.173913 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 223203056 223203056 __UNKNOWN__ IGR SNP G G A rs151207632 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:223203056G>A NA NA DISP1 (23719 upstream) : TLR5 (79691 downstream) NA NA NA atgcgcgtccgtgtgaagaga 0.562 NA G||| 4859 0.970248 0.8911 0.9942 5008 , , NA 17946 1 NA 0.999 False NA ,,, NA NA NA 2504 1 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.223203056G>A NA hg19 0.02 -0.184198 TCCxTGT COVERED NOVEL 0 1 2.407633 KEEP 0 0 0 8 275 GG 0.99257 0.420331 0 3 49 91 0 0 6.933603 16 60 527 45 0.157895 0.423478 TP53BP2 7159 __UNKNOWN__ __UNKNOWN__ 1 224028692 224028692 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:224028692T>C ENST00000343537.7 - 1 319 TP53BP2_ENST00000391878.2_Intron NM_001031685.2 NP_001026855.2 Q13625 ASPP2_HUMAN tumor protein p53 binding protein 2 NA NA cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleus (GO:0005634) identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070) NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) cggtggctcatgcctgtaatc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U09582 CCDS1538.1, CCDS44319.1 1q41 2014-06-24 2014-06-24 ENSG00000143514 ENSG00000143514 7159 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing 12000 protein-coding gene gene with protein product 602143 tumor protein p53-binding protein, 2 NA 8668206, 8016121 Standard NM_001031685, NM_005426 NM_005426 NA Approved PPP1R13A, ASPP2, 53BP2 uc010pvb.2 Q13625 OTTHUMG00000037379 ENST00000343537.7:c.27+4663A>G chr1.hg19:g.224028692T>C NA B4DG66|Q12892|Q86X75|Q96KQ3 hg19 CCDS44319.1 0.02 -0.131537 TCAxGCC COVERED NOVEL TP53BP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090985.3 6 2.407509 KEEP 0 0 0 8 259 TT 0.99257 0.22747 0 - 3 60 94 0 0 7.673331 11 60 309 29 ENST00000343537.7 0.214286 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 224385848 224385848 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:224385848A>G NA NA DEGS1 (4705 upstream) : RP11-365O16.3 (10600 downstream) NA NA NA gggattacagatgtgagccac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.224385848A>G NA hg19 0.02 -0.201535 CAGxTGT COVERED NOVEL 0 6 2.407293 KEEP 0 0 0 8 255 AA 0.99257 0.4869 0 3 49 100 0 0 7.835071 16 60 464 44 0.157895 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 226187203 226187203 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:226187203G>T NA NA SDE2 (171 upstream) : RP11-396C23.4 (61209 downstream) NA NA NA GAACAGGAAAGGCCTGGCGGA 0.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.226187203G>T NA hg19 0.02 1.625422 AAAxGCC COVERED NOVEL 0 2 16.250861 KEEP 0 0 0 54 1829 GG 1 0.97082 0 22 60 646 0 0 59.47218 31 60 974 114 0.415094 0.97082 ZNF678 339500 __UNKNOWN__ __UNKNOWN__ 1 227842419 227842419 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:227842419C>A ENST00000343776.5 + 4 813 c.468C>A c.(466-468)gaC>gaA p.D156E ZNF678_ENST00000397097.3_Missense_Mutation_p.D211E|ZNF678_ENST00000608949.1_Intron NM_178549.3 NP_848644.2 Q5SXM1 ZN678_HUMAN zinc finger protein 678 156 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) p.D156D(1)|p.D211D(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) ACAAATGTGACGAATGTGGCA 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - coding silent(2) endometrium(2) 62 73 69 NA NA NA 1 NA NA 227842419 2201 4298 6499 SO:0001583 missense BC042500 1q42.13 2013-01-08 ENSG00000181450 ENSG00000181450 339500 Zinc fingers, C2H2-type, - 28652 protein-coding gene gene with protein product hypothetical protein MGC42493 NA 12477932 Standard NM_178549 NM_178549 NA Approved MGC42493 uc021pjy.1 Q5SXM1 OTTHUMG00000037700 ENST00000343776.5:c.468C>A chr1.hg19:g.227842419C>A ENSP00000344828:p.Asp156Glu NA Q8IVQ9 hg19 0.02 2.856969 TGAxGAA COVERED . . . . . . . . . . C 0 -2.825361 0.00071 . . ENSG00000181450 ENST00000343776;ENST00000397097;ENST00000440339 T;T;T 0.18502 3.21;3.21;2.21 1.34 -2.68 0.06041 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.05227 0.0139 N 0.05330 -0.07 0.09310 N 1 B 0.14438 0.01 B 0.15052 0.012 T 0.36456 -0.9747 9 0.02654 T 1 . 2.6983 0.05141 0.3946:0.2044:0.0:0.401 . 156 Q5SXM1 ZN678_HUMAN E 156;211;211 ENSP00000344828:D156E;ENSP00000440403:D211E;ENSP00000394651:D211E ENSP00000344828:D156E D + 3 2 ZNF678 225909042 0.000000 0.05858 0.002000 0.10522 0.002000 0.02628 -5.429000 0.00123 -1.360000 0.02172 -1.465000 0.01017 GAC NOVEL ZNF678-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000091976.2 9 20.164625 KEEP 0 0 0 67 2307 CC 1 0.999998 0 + 6 60 177 0 0 10.395276 107 60 3492 261 ENST00000343776.5 0.053097 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 227908818 227908818 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:227908818A>G NA NA ZNF678 (43674 upstream) : SNAP47 (7421 downstream) NA NA NA ggcagagcagatagcaggtaa 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.227908818A>G NA hg19 0.02 -0.438461 CAGxTAG COVERED NOVEL 0 5 5.116001 KEEP 0 0 0 17 556 AA 0.999366 0.959251 0 3 40 107 0 0 7.288184 44 60 1272 91 0.06383 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 228168100 228168100 __UNKNOWN__ IGR SNP T T C rs138957100 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:228168100T>C NA NA WNT9A (32501 upstream) : WNT3A (26651 downstream) NA NA NA tggtggctcatgcctgtaatc 0.468 NA T||| 87 0.0173722 0.0628 0.0058 5008 , , NA 19174 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.228168100T>C NA hg19 0.02 3.602187 TCAxGCC COVERED NOVEL 0 27 2.438571 KEEP 16 4 143 58 1791 TT 1 1 0 7 46 240 0 0 15.837407 110 60 3284 297 0.059829 1 IBA57 200205 __UNKNOWN__ __UNKNOWN__ 1 228366028 228366028 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:228366028G>A ENST00000366711.3 + 0 3887 IBA57_ENST00000484749.1_3'UTR NM_001010867.2 NP_001010867.1 Q5T440 CAF17_HUMAN IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) NA NA glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783) mitochondrion (GO:0005739) aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 tcatgcctgtgatcccagcac 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022796 CCDS31046.1 1q42.13 2011-03-11 2011-03-11 2011-03-11 ENSG00000181873 ENSG00000181873 200205 27302 protein-coding gene gene with protein product iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa 615316 chromosome 1 open reading frame 69 C1orf69 NA Standard NM_001010867 NM_001010867 NA Approved FLJ12734 uc001hsl.4 Q5T440 OTTHUMG00000039769 ENST00000366711.3:c.*2814G>A chr1.hg19:g.228366028G>A NA hg19 CCDS31046.1 0.02 -0.31577 TGTxATC COVERED NOVEL IBA57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095980.1 4 2.442198 KEEP 2 1 28 18 655 GG 0.99986 0.81835 0 + 5 60 139 0 0 10.265902 27 60 867 71 ENST00000366711.3 0.15625 0.818465 IBA57 200205 __UNKNOWN__ __UNKNOWN__ 1 228367957 228367957 __UNKNOWN__ 3'UTR SNP G G A rs553829568 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:228367957G>A ENST00000366711.3 + 0 5816 IBA57_ENST00000484749.1_3'UTR NM_001010867.2 NP_001010867.1 Q5T440 CAF17_HUMAN IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) NA NA glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783) mitochondrion (GO:0005739) aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 agcctagagcgtctaaggcat 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022796 CCDS31046.1 1q42.13 2011-03-11 2011-03-11 2011-03-11 ENSG00000181873 ENSG00000181873 200205 27302 protein-coding gene gene with protein product iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa 615316 chromosome 1 open reading frame 69 C1orf69 NA Standard NM_001010867 NM_001010867 NA Approved FLJ12734 uc001hsl.4 Q5T440 OTTHUMG00000039769 ENST00000366711.3:c.*4743G>A chr1.hg19:g.228367957G>A NA hg19 CCDS31046.1 0.02 2.394453 AGCxTCT COVERED NOVEL IBA57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095980.1 11 12.640297 KEEP 0 0 0 42 1438 GG 1 1 0 + 6 60 171 1 0 9.308629 130 60 4249 231 ENST00000366711.3 0.044118 1 TMEM78 677790 __UNKNOWN__ __UNKNOWN__ 1 229386021 229386021 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:229386021C>G ENST00000323223.2 + 0 639 Q5T7P6 TMM78_HUMAN transmembrane protein 78 NA NA integral component of membrane (GO:0016021) NA tgggattacacgtgtgagcca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097487 1q42.13 2008-08-27 ENSG00000177800 ENSG00000177800 677790 32307 protein-coding gene gene with protein product NA Standard NA Approved FLJ40168 Q5T7P6 OTTHUMG00000037629 ENST00000323223.2:c.*169C>G chr1.hg19:g.229386021C>G NA Q8N802 hg19 0.02 1.797824 ACAxGTG COVERED NOVEL TMEM78-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000091730.2 7 3.310649 KEEP 0 0 0 11 378 AC 0.993634 0.975704 0 + 4 60 132 0 0 9.094768 45 60 1439 87 ENST00000323223.2 0.081633 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 229548287 229548287 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:229548287G>C NA NA RN7SKP276 (1773 upstream) : ACTA1 (18704 downstream) NA NA NA cttgccttaagtgatgacatt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.229548287G>C NA hg19 0.02 1.87744 TAAxTGA COVERED NOVEL 0 7 6.320516 KEEP 5 0 0 21 763 GG 0.999869 0.999187 0 6 60 197 1 0 13.383588 72 60 2452 149 0.076923 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 229548305 229548305 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:229548305A>G NA NA RN7SKP276 (1791 upstream) : ACTA1 (18686 downstream) NA NA NA attaccttgtaaaagtccttt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.229548305A>G NA hg19 0.02 1.59058 TGTxAAA COVERED NOVEL 0 7 6.318605 KEEP 6 0 0 21 642 AA 0.999879 0.999741 0 8 60 266 0 0 18.907148 77 60 2179 189 0.094118 0.999862 TTC13 79573 __UNKNOWN__ __UNKNOWN__ 1 231044215 231044215 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:231044215T>C ENST00000366661.4 - 22 2476 TTC13_ENST00000414259.1_Intron|TTC13_ENST00000366662.4_Intron NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 NA NA central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) ggattacaggtatgagctact 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1588.1, CCDS44332.1, CCDS44332.2 1q42.2 2013-01-10 ENSG00000143643 ENSG00000143643 79573 Tetratricopeptide (TTC) repeat domain containing 26204 protein-coding gene gene with protein product NA Standard NM_024525 NM_024525 NA Approved FLJ22584 uc001huf.4 Q8NBP0 OTTHUMG00000037788 ENST00000366661.4:c.2468+242A>G chr1.hg19:g.231044215T>C NA B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20 hg19 CCDS1588.1 0.02 1.91512 AGGxATG COVERED NOVEL TTC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092229.2 15 5.147409 KEEP 0 1 37 30 870 TT 0.999997 0.973963 0 - 4 60 124 1 0 8.334936 44 60 1227 112 ENST00000366661.4 0.083333 0.973965 TTC13 79573 __UNKNOWN__ __UNKNOWN__ 1 231084507 231084507 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:231084507G>A ENST00000366661.4 - 5 521 TTC13_ENST00000414259.1_Intron|TTC13_ENST00000366662.4_Intron NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 NA NA central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) aagtgctggggttacaggcgt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1588.1, CCDS44332.1, CCDS44332.2 1q42.2 2013-01-10 ENSG00000143643 ENSG00000143643 79573 Tetratricopeptide (TTC) repeat domain containing 26204 protein-coding gene gene with protein product NA Standard NM_024525 NM_024525 NA Approved FLJ22584 uc001huf.4 Q8NBP0 OTTHUMG00000037788 ENST00000366661.4:c.514-3307C>T chr1.hg19:g.231084507G>A NA B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20 hg19 CCDS1588.1 0.02 -0.210519 GGGxTTA COVERED NOVEL TTC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092229.2 6 2.708904 KEEP 0 0 0 9 321 GG 0.99254 0.518266 0 - 4 60 109 1 0 8.280784 18 60 618 48 ENST00000366661.4 0.181818 0.522161 TSNAX 7257 __UNKNOWN__ __UNKNOWN__ 1 231672869 231672869 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:231672869A>G ENST00000366639.4 + 3 279 TSNAX_ENST00000602825.1_Intron|TSNAX-DISC1_ENST00000602962.1_Intron NM_005999.2 NP_005990.1 Q99598 TSNAX_HUMAN translin-associated factor X NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283) Golgi apparatus (GO:0005794)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565) endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116) gagccaccgcacccagcATAT 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X95073 CCDS1596.1 1q42.2 2008-02-05 ENSG00000116918 ENSG00000116918 7257 12380 protein-coding gene gene with protein product 602964 NA 9013868 Standard NM_005999 NM_005999 NA Approved TRAX uc001huw.3 Q99598 OTTHUMG00000039486 ENST00000366639.4:c.122-90A>G chr1.hg19:g.231672869A>G NA B1APC6 hg19 CCDS1596.1 0.02 -0.315509 CGCxCCC COVERED NOVEL TSNAX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095267.2 5 3.911081 KEEP 0 0 0 13 392 AA 0.994391 0.813874 0 + 3 60 105 0 0 7.527375 31 60 875 67 ENST00000366639.4 0.088235 0.818465 PCNXL2 80003 __UNKNOWN__ __UNKNOWN__ 1 233167934 233167934 __UNKNOWN__ Intron SNP C C T rs569992522 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:233167934C>T ENST00000258229.9 - 26 4586 PCNXL2_ENST00000344698.2_Intron NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ccacaacctccgcctcccggg 0.483 NA C||| 1 0.000199681 0 0 5008 , , NA 15837 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055374 CCDS44335.1 1q42.2 2008-02-05 2001-11-28 ENSG00000135749 ENSG00000135749 80003 8736 protein-coding gene gene with protein product pecanex (Drosophila)-like 2 NA 12477932 Standard NM_014801 NM_014801 NA Approved KIAA0435, FLJ11383 uc001hvl.2 A6NKB5 OTTHUMG00000037824 ENST00000258229.9:c.4352-6789G>A chr1.hg19:g.233167934C>T NA O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8 hg19 CCDS44335.1 0.02 -0.263119 CTCxGCC COVERED NOVEL PCNXL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092480.3 5 4.212049 KEEP 0 0 0 14 442 CC 0.995343 0.690438 0 - 3 56 91 0 0 6.495526 23 60 699 49 ENST00000258229.9 0.115385 0.693668 PCNXL2 80003 __UNKNOWN__ __UNKNOWN__ 1 233193373 233193373 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:233193373A>T ENST00000258229.9 - 24 4311 PCNXL2_ENST00000344698.2_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) cccaacacttagggaggctga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055374 CCDS44335.1 1q42.2 2008-02-05 2001-11-28 ENSG00000135749 ENSG00000135749 80003 8736 protein-coding gene gene with protein product pecanex (Drosophila)-like 2 NA 12477932 Standard NM_014801 NM_014801 NA Approved KIAA0435, FLJ11383 uc001hvl.2 A6NKB5 OTTHUMG00000037824 ENST00000258229.9:c.4077-337T>A chr1.hg19:g.233193373A>T NA O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8 hg19 CCDS44335.1 0.02 4.701026 CTTxGGG COVERED NOVEL PCNXL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092480.3 33 17.186227 KEEP 0 4 125 101 3104 AA 1 1 0 - 8 60 213 1 2 11.354277 155 60 4536 392 ENST00000258229.9 0.04908 1 MLK4 0 __UNKNOWN__ __UNKNOWN__ 1 233518494 233518494 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:233518494G>A ENST00000366624.3 + 0 3409 MLK4_ENST00000366622.1_3'UTR NM_032435.2 NP_115811.2 NA NA NA ATTTTTTTAAGGTGAACAAAT 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 27 26 26 NA NA NA 1 NA NA 233518494 2203 4300 6503 SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000366624.3:c.*37G>A chr1.hg19:g.233518494G>A NA hg19 CCDS1598.1 0.02 1.219164 TAAxGTG COVERED NOVEL MLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092495.1 4 15.048755 KEEP 0 0 0 50 1782 GG 1 0.999768 0 + 12 60 353 0 0 25.875738 75 60 2551 192 ENST00000366624.3 0.137931 0.999768 SLC35F3 148641 __UNKNOWN__ __UNKNOWN__ 1 234162957 234162957 __UNKNOWN__ Intron SNP C C T rs12144065 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:234162957C>T ENST00000366618.3 + 2 428 NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 NA NA thiamine transport (GO:0015888) integral component of membrane (GO:0016021) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CACCACCACACGCTTGATGGC 0.552 NA C||| 1126 0.22484 0.0862 0.2378 5008 , , NA 21281 0.0863 NA 0.4404 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1600.1, CCDS73050.1 1q42.3 2013-05-22 ENSG00000183780 ENSG00000183780 148641 Solute carriers 23616 protein-coding gene gene with protein product NA Standard NM_173508 XM_005273070 NA Approved FLJ37712 uc001hvy.1 Q8IY50 OTTHUMG00000037929 ENST00000366618.3:c.283+121453C>T chr1.hg19:g.234162957C>T NA Q5TDD6|Q8N9C9 hg19 CCDS1600.1 0.02 -0.306963 ACAxGCT COVERED NOVEL SLC35F3-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000092579.2 0 3.009602 KEEP 0 0 0 10 348 CC 0.992708 0.79441 0 + 5 60 128 0 0 8.962792 30 60 989 61 ENST00000366618.3 0.142857 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 235246219 235246219 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:235246219T>G NA NA RP11-443B7.3 (129668 upstream) : RP4-597N16.4 (21275 downstream) NA NA NA cagcctgggttacagagtgag 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.235246219T>G NA hg19 0.02 -0.227937 GGTxACA COVERED NOVEL 0 3 2.70698 KEEP 1 0 0 9 257 TT 0.99254 0.578582 0 3 60 100 0 1 7.39554 23 60 617 47 0.115385 0.58293 RBM34 23029 __UNKNOWN__ __UNKNOWN__ 1 235294560 235294560 __UNKNOWN__ 3'UTR SNP G G A rs555383786 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:235294560G>A ENST00000408888.3 - 0 1991 RBM34_ENST00000366606.3_3'UTR P42696 RBM34_HUMAN RNA binding motif protein 34 NA NA nucleolus (GO:0005730)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) agtgactcacgcctgtaatcc 0.512 NA G||| 1 0.000199681 0 0 5008 , , NA 20231 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS41477.1, CCDS41477.2 1q42.3 2013-02-12 ENSG00000188739 ENSG00000188739 23029 RNA binding motif (RRM) containing 28965 protein-coding gene gene with protein product NA 7788527, 15134903 Standard NM_015014 NM_015014 NA Approved KIAA0117 uc001hwn.3 P42696 OTTHUMG00000039620 ENST00000408888.3:c.*468C>T chr1.hg19:g.235294560G>A NA A8K8J7|Q8N2Z8|Q9H5A1 hg19 CCDS41477.2 0.02 7.325704 CACxCCT COVERED NOVEL RBM34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100146.1 64 28.360209 KEEP 3 6 190 161 5620 GG 1 1 0 - 12 60 357 1 0 20.700774 231 60 7656 624 ENST00000408888.3 0.049383 1 RBM34 23029 __UNKNOWN__ __UNKNOWN__ 1 235294619 235294619 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:235294619C>T ENST00000408888.3 - 0 1932 RBM34_ENST00000366606.3_3'UTR P42696 RBM34_HUMAN RNA binding motif protein 34 NA NA nucleolus (GO:0005730)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) gtcaggagttcgagaccagcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS41477.1, CCDS41477.2 1q42.3 2013-02-12 ENSG00000188739 ENSG00000188739 23029 RNA binding motif (RRM) containing 28965 protein-coding gene gene with protein product NA 7788527, 15134903 Standard NM_015014 NM_015014 NA Approved KIAA0117 uc001hwn.3 P42696 OTTHUMG00000039620 ENST00000408888.3:c.*409G>A chr1.hg19:g.235294619C>T NA A8K8J7|Q8N2Z8|Q9H5A1 hg19 CCDS41477.2 0.02 2.506509 GTTxGAG COVERED NOVEL RBM34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100146.1 19 13.943064 KEEP 11 3 90 78 2465 CC 1 0.999995 0 - 7 60 173 1 0 9.612911 95 60 2898 217 ENST00000408888.3 0.068627 0.999995 ARID4B 51742 __UNKNOWN__ __UNKNOWN__ 1 235362150 235362150 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:235362150A>C ENST00000264183.3 - 18 2339 ARID4B_ENST00000366603.2_Intron|ARID4B_ENST00000349213.3_Intron NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) NA NA histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) cgcagtggctaacgcctgtaa 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF214114 CCDS31060.1, CCDS31061.1 1q42.1-q43 2013-02-07 2006-11-08 2004-01-30 ENSG00000054267 ENSG00000054267 51742 - 15550 protein-coding gene gene with protein product 609696 retinoblastoma binding protein 1-like 1, AT rich interactive domain 4B (RBP1- like) RBP1L1 NA 11481388 Standard NM_016374 NM_016374 NA Approved BCAA, BRCAA1, SAP180 uc001hwq.3 Q4LE39 OTTHUMG00000039621 ENST00000264183.3:c.1842-2720T>G chr1.hg19:g.235362150A>C NA A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1 hg19 CCDS31061.1 0.02 -0.08769 GCTxACG UNCOVERED NOVEL ARID4B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095566.3 3 2.406905 KEEP 0 0 0 8 238 AA 0.99257 0.09898 0 - 3 60 100 0 0 8.779212 7 60 190 28 ENST00000264183.3 0.3 0.099721 ARID4B 51742 __UNKNOWN__ __UNKNOWN__ 1 235390105 235390105 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:235390105C>T ENST00000264183.3 - 12 1395 ARID4B_ENST00000366603.2_Intron|ARID4B_ENST00000349213.3_Intron NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) NA NA histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) tcccaaagtgctgggattaca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF214114 CCDS31060.1, CCDS31061.1 1q42.1-q43 2013-02-07 2006-11-08 2004-01-30 ENSG00000054267 ENSG00000054267 51742 - 15550 protein-coding gene gene with protein product 609696 retinoblastoma binding protein 1-like 1, AT rich interactive domain 4B (RBP1- like) RBP1L1 NA 11481388 Standard NM_016374 NM_016374 NA Approved BCAA, BRCAA1, SAP180 uc001hwq.3 Q4LE39 OTTHUMG00000039621 ENST00000264183.3:c.898-2015G>A chr1.hg19:g.235390105C>T NA A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1 hg19 CCDS31061.1 0.02 -0.333351 GTGxTGG COVERED NOVEL ARID4B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095566.3 20 2.709047 KEEP 7 0 0 9 341 CC 0.99257 0.845654 0 - 3 52 92 0 0 6.398427 27 60 913 73 ENST00000264183.3 0.1 0.851984 LYST 1130 __UNKNOWN__ __UNKNOWN__ 1 235945196 235945196 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:235945196A>G ENST00000389794.3 - 15 5198 LYST_ENST00000389793.2_Intron|LYST_ENST00000536965.1_Intron Q99698 LYST_HUMAN lysosomal trafficking regulator NA NA blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456) cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) gcccaggctgaagtgcagtgg 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U70064 CCDS31062.1 1q42.1-q42.2 2014-09-17 2004-12-09 2004-12-10 ENSG00000143669 ENSG00000143669 1130 WD repeat domain containing 1968 protein-coding gene gene with protein product 606897 Chediak-Higashi syndrome 1 CHS1 NA 8717042, 8896560 Standard NM_000081 NA Approved CHS uc001hxj.3 Q99698 OTTHUMG00000040527 ENST00000389794.3:c.5023+30T>C chr1.hg19:g.235945196A>G NA O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133 hg19 CCDS31062.1 0.02 1.932519 CTGxAGT COVERED NOVEL LYST-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097533.5 5 5.115927 KEEP 0 0 0 17 548 AA 0.999366 0.970205 0 - 4 60 134 0 0 9.331948 44 60 1304 82 ENST00000389794.3 0.083333 0.97082 NID1 4811 __UNKNOWN__ __UNKNOWN__ 1 236154840 236154840 __UNKNOWN__ Intron SNP C C T rs139260925 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:236154840C>T ENST00000264187.6 - 14 2838 NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 NA NA basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811) basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Urokinase(DB00013) accatgttggccaggctggtc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC045606 CCDS1608.1 1q43 2011-05-08 2005-06-02 2005-06-02 ENSG00000116962 ENSG00000116962 4811 7821 protein-coding gene gene with protein product 131390 nidogen (enactin) NID NA 2471408, 7557988 Standard NM_002508 NM_002508 NA Approved entactin uc001hxo.3 P14543 OTTHUMG00000040071 ENST00000264187.6:c.2756-482G>A chr1.hg19:g.236154840C>T NA Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7 hg19 CCDS1608.1 0.02 -0.131518 TGGxCAG COVERED NOVEL NID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096647.2 2 2.708968 KEEP 0 0 0 9 333 CC 0.99254 0.227464 0 - 3 60 84 0 0 6.782716 10 60 313 30 ENST00000264187.6 0.230769 0.229173 HEATR1 55127 __UNKNOWN__ __UNKNOWN__ 1 236749203 236749203 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:236749203G>C ENST00000366582.3 - 16 2080 c.1966C>G c.(1966-1968)Cta>Gta p.L656V HEATR1_ENST00000366581.2_Missense_Mutation_p.L656V NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 656 NA rRNA processing (GO:0006364) membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ACACCGATTAGTTTTCCTGGC 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 106 97 100 NA NA NA 1 NA NA 236749203 2203 4300 6503 SO:0001583 missense BC065205 CCDS31066.1 1q43 2011-08-12 ENSG00000119285 ENSG00000119285 55127 25517 protein-coding gene gene with protein product UTP10, small subunit (SSU) processome component, homolog (yeast) NA 17699751 Standard XM_375853 NM_018072 NA Approved FLJ10359, BAP28, UTP10 uc001hyd.2 Q9H583 OTTHUMG00000040061 ENST00000366582.3:c.1966C>G chr1.hg19:g.236749203G>C ENSP00000355541:p.Leu656Val NA Q5T3Q8|Q6P197|Q9NW23 hg19 CCDS31066.1 0.02 1.751405 TTAxTTT COVERED . . . . . . . . . . G 11.90 1.777672 0.31502 . . ENSG00000119285 ENST00000366582;ENST00000366581 T;T 0.53857 0.6;0.6 5.76 -2.22 0.06952 Armadillo-type fold (1); 0.294010 0.33290 N 0.005071 T 0.36413 0.0966 L 0.53249 1.67 0.18873 N 0.999983 B 0.14438 0.01 B 0.12156 0.007 T 0.19224 -1.0312 10 0.49607 T 0.09 . 1.3243 0.02122 0.3204:0.1083:0.3437:0.2275 . 656 Q9H583 HEAT1_HUMAN V 656 ENSP00000355541:L656V;ENSP00000355540:L656V ENSP00000355540:L656V L - 1 2 HEATR1 234815826 0.001000 0.12720 0.073000 0.20177 0.059000 0.15707 -0.183000 0.09712 -0.217000 0.10033 -0.293000 0.09583 CTA NOVEL HEATR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096635.1 2 16.553863 KEEP 0 0 0 55 1989 GG 1 0.999559 0 - 16 60 528 0 0 42.860279 66 60 2214 191 ENST00000366582.3 0.195122 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 239286150 239286150 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:239286150A>C NA NA RP11-177F15.1 (584545 upstream) : RP11-544D21.2 (124957 downstream) NA NA NA cctgtaatccaagcactttgg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.239286150A>C NA hg19 0.02 -0.061398 TCCxAGC UNCOVERED NOVEL 0 1 2.406541 KEEP 0 0 0 8 243 AA 0.99257 0.043461 0 3 60 96 0 0 9.225042 3 60 89 22 0.5 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 244450421 244450421 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:244450421C>T NA NA RP11-278H7.3 (178108 upstream) : C1orf100 (65515 downstream) NA NA NA ggattacaggcgtgagccact 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.244450421C>T NA hg19 0.02 -0.210524 AGGxGTG UNCOVERED NOVEL 0 7 2.407362 KEEP 5 0 0 8 260 CC 0 0 0 3 60 90 0 0 6.761191 17 60 560 48 0.15 0.522161 COX20 116228 __UNKNOWN__ __UNKNOWN__ 1 245007798 245007798 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:245007798A>G ENST00000411948.2 + 0 2070 COX20_ENST00000498262.1_3'UTR NM_198076.4 NP_932342.1 Q5RI15 COX20_HUMAN COX20 cytochrome C oxidase assembly factor NA NA integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) NA ggtggctcatacctgtaatcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC062419 CCDS31080.1 1q44 2013-05-24 2013-05-23 2012-02-24 ENSG00000203667 ENSG00000203667 116228 Mitochondrial respiratory chain complex assembly factors 26970 protein-coding gene gene with protein product 614698 family with sequence similarity 36, member A, COX20 Cox2 chaperone homolog (S. cerevisiae) FAM36A NA 22356826, 23125284 Standard NM_198076 NM_198076 NA Approved FLJ43269 uc001iar.3 Q5RI15 OTTHUMG00000040401 ENST00000411948.2:c.*1320A>G chr1.hg19:g.245007798A>G NA Q8WV86 hg19 CCDS31080.1 0.02 1.880261 CATxCCT COVERED NOVEL COX20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097174.1 5 6.316839 KEEP 0 0 0 21 602 AA 0.999869 0.984032 0 + 5 60 171 0 0 12.213609 50 60 1337 96 ENST00000411948.2 0.090909 0.984161 HNRNPU 3192 __UNKNOWN__ __UNKNOWN__ 1 245017533 245017533 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:245017533C>T ENST00000283179.9 - 0 2860 HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU_ENST00000444376.2_3'UTR Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) NA NA CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) ATTCTCTTATCGTGCACAATG 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(33;911 1010 3329 23631 49995) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X65488 CCDS31081.1, CCDS41479.1 1q44 2011-10-24 2007-08-16 ENSG00000153187 ENSG00000153187 3192 5048 protein-coding gene gene with protein product 602869 HNRPU NA 7509195, 8068679 Standard NM_031844 NM_031844 NA Approved SAF-A, hnRNPU uc001iaz.1 Q00839 OTTHUMG00000040396 ENST00000283179.9:c.*219G>A chr1.hg19:g.245017533C>T NA O75507|Q8N174|Q96HY9|Q9BQ09 hg19 CCDS41479.1 0.02 5.262968 TATxGTG COVERED NOVEL HNRNPU-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000097163.3 11 43.191152 KEEP 2 5 146 195 6377 CC 1 1 0 - 14 42 368 0 0 21.489846 187 60 5792 582 ENST00000283179.9 0.069652 1 HNRNPU 3192 __UNKNOWN__ __UNKNOWN__ 1 245020833 245020833 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:245020833A>G ENST00000283179.9 - 8 1778 HNRNPU_ENST00000444376.2_Intron Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) NA NA CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) acaggcgtgaaccaccatgcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(33;911 1010 3329 23631 49995) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X65488 CCDS31081.1, CCDS41479.1 1q44 2011-10-24 2007-08-16 ENSG00000153187 ENSG00000153187 3192 5048 protein-coding gene gene with protein product 602869 HNRPU NA 7509195, 8068679 Standard NM_031844 NM_031844 NA Approved SAF-A, hnRNPU uc001iaz.1 Q00839 OTTHUMG00000040396 ENST00000283179.9:c.1614+66T>C chr1.hg19:g.245020833A>G NA O75507|Q8N174|Q96HY9|Q9BQ09 hg19 CCDS41479.1 0.02 3.550425 TGAxCCA COVERED NOVEL HNRNPU-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000097163.3 19 19.181696 KEEP 0 1 38 77 2412 AA 1 1 0 - 6 60 174 0 1 10.105613 124 60 3645 306 ENST00000283179.9 0.046154 1 HNRNPU 3192 __UNKNOWN__ __UNKNOWN__ 1 245023532 245023532 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:245023532C>G ENST00000283179.9 - 4 1181 HNRNPU_ENST00000444376.2_Intron Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) NA NA CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) gaacccaggacgcggaggttg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(33;911 1010 3329 23631 49995) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X65488 CCDS31081.1, CCDS41479.1 1q44 2011-10-24 2007-08-16 ENSG00000153187 ENSG00000153187 3192 5048 protein-coding gene gene with protein product 602869 HNRPU NA 7509195, 8068679 Standard NM_031844 NM_031844 NA Approved SAF-A, hnRNPU uc001iaz.1 Q00839 OTTHUMG00000040396 ENST00000283179.9:c.1017+104G>C chr1.hg19:g.245023532C>G NA O75507|Q8N174|Q96HY9|Q9BQ09 hg19 CCDS41479.1 0.02 1.546469 GGAxGCG COVERED NOVEL HNRNPU-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000097163.3 8 5.32535 KEEP 0 3 107 55 1905 CC 1 0.99993 0 - 5 60 163 0 0 10.385737 82 60 2703 184 ENST00000283179.9 0.057471 0.99993 TFB2M 64216 __UNKNOWN__ __UNKNOWN__ 1 246726648 246726648 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:246726648G>A ENST00000366514.4 - 2 588 TFB2M_ENST00000544618.1_Intron NM_022366.2 NP_071761.1 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial NA NA gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645) poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712) breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) gctcacgcctgtaatcccagc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026835 CCDS1627.1 1q44 2008-02-05 ENSG00000162851 ENSG00000162851 64216 18559 protein-coding gene gene with protein product 607055 NA Standard NM_022366 NM_022366 NA Approved FLJ23182, FLJ22661, Hkp1 uc001ibn.3 Q9H5Q4 OTTHUMG00000040091 ENST00000366514.4:c.402+999C>T chr1.hg19:g.246726648G>A NA Q9H626 hg19 CCDS1627.1 0.02 -0.096491 CCTxTAA UNCOVERED NOVEL TFB2M-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096673.1 7 3.009902 KEEP 7 0 0 10 359 GG 0.99254 0.119538 0 - 3 23 88 0 0 7.932432 5 60 165 41 ENST00000366514.4 0.375 0.120436 NLRP3 114548 __UNKNOWN__ __UNKNOWN__ 1 247581884 247581884 __UNKNOWN__ 5'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:247581884G>A ENST00000336119.3 + 0 534 NLRP3_ENST00000366497.2_5'UTR|NLRP3_ENST00000391828.3_Intron|NLRP3_ENST00000348069.2_5'UTR|NLRP3_ENST00000366496.2_5'UTR NM_001127462.2|NM_001243133.1|NM_004895.4 NP_001120934.1|NP_001230062.1|NP_004886.3 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559) ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) gattacaggcgtgagccactg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF054176 CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1 1q44 2014-09-17 2006-12-08 2006-12-08 ENSG00000162711 ENSG00000162711 114548 Nucleotide-binding domain and leucine rich repeat containing 16400 protein-coding gene gene with protein product Cryopyrin, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 606416 cold autoinflammatory syndrome 1 C1orf7, CIAS1 NA 10741953 Standard NM_004895 NM_183395 NA Approved AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1 uc001icr.3 Q96P20 OTTHUMG00000040647 ENST00000336119.3:c.-213G>A chr1.hg19:g.247581884G>A NA B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9 hg19 CCDS1632.1 0.02 -0.236818 GGCxTGA COVERED NOVEL NLRP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097740.1 5 3.310388 KEEP 0 0 0 11 364 GG 0.993072 0.608164 0 + 3 60 88 0 0 6.30772 21 60 667 47 ENST00000336119.3 0.125 0.612407 OR2B11 127623 __UNKNOWN__ __UNKNOWN__ 1 247614657 247614657 __UNKNOWN__ Missense_Mutation SNP A A G rs73140586 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:247614657A>G ENST00000318749.6 - 1 651 c.628T>C c.(628-630)Ttc>Ctc p.F210L NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 210 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ACCAACACGAAGAAGGCCACC 0.567 NA A||| 423 0.0844649 0.3056 0.0231 5008 , , NA 18999 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 A LEU/PHE 1050,3356 382.1+/-324.3 136,778,1289 65 68 67 NA 628 5.1 1 1 dbSNP_130 67 15,8585 9.1+/-34.3 0,15,4285 yes missense OR2B11 NM_001004492.1 22 136,793,5574 GG,GA,AA NA 0.1744,23.8311,8.1885 possibly-damaging 210/318 247614657 1065,11941 2203 4300 6503 SO:0001583 missense CCDS31090.1 1q44 2012-08-09 ENSG00000177535 ENSG00000177535 127623 GPCR / Class A : Olfactory receptors 31249 protein-coding gene gene with protein product NA Standard NM_001004492 NM_001004492 NA Approved uc010pyx.2 Q5JQS5 OTTHUMG00000040572 ENST00000318749.6:c.628T>C chr1.hg19:g.247614657A>G ENSP00000325682:p.Phe210Leu NA B2RP03 hg19 CCDS31090.1 0.02 3.189455 CGAxGAA COVERED 159 0.07280219780219781 150 0.3048780487804878 8 0.022099447513812154 0 0.0 1 0.0013192612137203166 A 12.92 2.083759 0.36758 0.238311 0.001744 ENSG00000177535 ENST00000318749 T 0.00021 9.02 5.09 5.09 0.68999 GPCR, rhodopsin-like superfamily (1); 0.718749 0.12583 N 0.456222 T 0.00012 0.0000 N 0.11284 0.12 0.37305 P 0.09112900000000002 B 0.06786 0.001 B 0.10450 0.005 T 0.10870 -1.0611 9 0.36615 T 0.2 . 13.1575 0.59527 1.0:0.0:0.0:0.0 . 210 Q5JQS5 OR2BB_HUMAN L 210 ENSP00000325682:F210L ENSP00000325682:F210L F - 1 0 OR2B11 245681280 0.000000 0.05858 0.995000 0.50966 0.486000 0.33341 0.077000 0.14738 2.273000 0.75805 0.523000 0.50628 TTC NOVEL OR2B11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097620.1 4 26.782203 KEEP 0 0 0 89 2866 AA 1 0.999995 0 - 13 60 410 0 0 29.748443 99 60 2939 249 ENST00000318749.6 0.116071 0.999995 TRIM58 25893 __UNKNOWN__ __UNKNOWN__ 1 248040280 248040280 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr1:248040280A>T ENST00000366481.3 + 0 1998 OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 NA NA intracellular (GO:0005622) zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) tctccctgtcactctctctct 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF327057 CCDS1636.1 1q44 2013-01-09 2011-01-25 ENSG00000162722 ENSG00000162722 25893 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 24150 protein-coding gene gene with protein product tripartite motif-containing 58 NA Standard NM_015431 NM_015431 NA Approved BIA2 uc001ido.3 Q8NG06 OTTHUMG00000040203 ENST00000366481.3:c.*489A>T chr1.hg19:g.248040280A>T NA Q6B0H9 hg19 CCDS1636.1 0.02 1.348758 GTCxCTC COVERED NOVEL TRIM58-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096860.1 5 4.812765 KEEP 0 0 0 16 465 AA 0.999366 0.990336 0 + 5 60 141 0 0 8.949509 57 60 1596 107 ENST00000366481.3 0.080645 0.990964 TMEM18 129787 __UNKNOWN__ __UNKNOWN__ 2 668029 668029 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:668029G>A ENST00000281017.3 - 0 2067 NM_152834.2 NP_690047.2 Q96B42 TMM18_HUMAN transmembrane protein 18 NA NA cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) DNA binding (GO:0003677) endometrium(1)|large_intestine(1)|lung(7)|ovary(1) 10 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) gggaggcctcgggaaacttac 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL137269 CCDS33141.1 2p25.3 2008-02-05 ENSG00000151353 ENSG00000151353 129787 25257 protein-coding gene gene with protein product 613220 NA 12477932 Standard NM_152834 NM_152834 NA Approved DKFZp434C1714 uc002qwl.3 Q96B42 OTTHUMG00000151381 ENST00000281017.3:c.*1551C>T chr2.hg19:g.668029G>A NA D6W4X9|Q8N5H2|Q9NTH3 hg19 CCDS33141.1 0.02 -0.271895 CTCxGGA COVERED NOVEL TMEM18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322427.1 7 4.513228 KEEP 0 0 0 15 461 GG 0.99649 0.714798 0 - 4 60 121 0 0 8.895171 26 60 813 59 ENST00000281017.3 0.133333 0.717315 MYT1L 23040 __UNKNOWN__ __UNKNOWN__ 2 2223432 2223432 __UNKNOWN__ Intron SNP C C T rs113009634|rs5828866 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:2223432C>T ENST00000428368.2 - 3 250 MYT1L_ENST00000399161.2_Intron Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) tcctccttcccttgttctcct 0.438 NA T||| 509 0.101637 0.1225 0.0965 5008 , , NA 19587 0.0942 NA 0.1302 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040 Zinc fingers, C2HC-type containing 7623 protein-coding gene gene with protein product neural zinc finger transcription factor 1 613084 NA 9373037 Standard NM_015025 XM_006711862 NA Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.421-46672G>A chr2.hg19:g.2223432C>T NA A7E2C7|B2RP54|Q6IQ17|Q9UPP6 hg19 CCDS46222.1 0.02 -0.157892 TCCxTTG COVERED NOVEL MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000377210.1 1 2.40775 KEEP 0 0 0 8 276 CC 0.99257 0.320408 0 - 3 60 85 0 0 6.410763 15 60 497 34 ENST00000428368.2 0.166667 0.322807 COLEC11 78989 __UNKNOWN__ __UNKNOWN__ 2 3651177 3651177 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:3651177A>G ENST00000349077.4 + 2 77 COLEC11_ENST00000418971.2_5'UTR|COLEC11_ENST00000487365.1_Intron|AC010907.2_ENST00000456450.1_RNA|COLEC11_ENST00000236693.7_Intron|COLEC11_ENST00000382062.2_Intron NM_024027.4 NP_076932.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 NA NA developmental process (GO:0032502)|multicellular organismal development (GO:0007275) collagen trimer (GO:0005581)|extracellular region (GO:0005576) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) aaagtgctggaattacaggtg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000078 CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1 2p25.3 2014-09-17 ENSG00000118004 ENSG00000118004 78989 Collectins 17213 protein-coding gene gene with protein product Collectin K1 612502 NA Standard NM_024027 NM_024027 NA Approved MGC3279, CL-K1 uc031rnn.1 Q9BWP8 OTTHUMG00000090304 ENST00000349077.4:c.-26-728A>G chr2.hg19:g.3651177A>G NA A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1 hg19 CCDS1649.1 0.02 3.786158 TGGxATT COVERED NOVEL COLEC11-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206666.1 26 9.201552 KEEP 0 5 176 92 2914 AA 1 0.999996 0 + 8 60 272 1 0 19.139565 86 60 2581 284 ENST00000349077.4 0.085106 0.999996 KIDINS220 57498 __UNKNOWN__ __UNKNOWN__ 2 8898285 8898285 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:8898285G>A ENST00000256707.3 - 23 3193 KIDINS220_ENST00000427284.1_Intron|KIDINS220_ENST00000473731.1_Intron|KIDINS220_ENST00000319688.5_Intron|KIDINS220_ENST00000418530.1_Intron NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa NA NA activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234) PDZ domain binding (GO:0030165) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) gagccactgcgcccagccCTG 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025528 CCDS42650.1 2p24 2013-01-10 ENSG00000134313 ENSG00000134313 57498 Ankyrin repeat domain containing 29508 protein-coding gene gene with protein product ankyrin repeat-rich membrane-spanning protein 615759 NA 10998417, 10574462 Standard NM_020738 NM_020738 NA Approved ARMS uc002qzc.2 Q9ULH0 OTTHUMG00000151658 ENST00000256707.3:c.3012-6511C>T chr2.hg19:g.8898285G>A NA A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42 hg19 CCDS42650.1 0.02 -0.14912 TGCxCCC COVERED NOVEL KIDINS220-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323408.2 7 2.407875 KEEP 0 0 0 8 286 GG 0.99257 0.289832 0 - 3 60 86 0 0 6.679255 13 60 432 35 ENST00000256707.3 0.1875 0.292001 MBOAT2 129642 __UNKNOWN__ __UNKNOWN__ 2 8996471 8996471 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:8996471G>A ENST00000305997.3 - 0 4099 NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) acacacacacGAACAAAACCC 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(194;1699 3813 22401) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC016005 CCDS1660.1 2p25 2008-02-05 2006-06-29 2006-06-29 ENSG00000143797 ENSG00000143797 129642 25193 protein-coding gene gene with protein product 611949 O-acyltransferase (membrane bound) domain containing 2 OACT2 NA Standard NM_138799 NM_138799 NA Approved FLJ14415, FLJ90298 uc002qzg.1 Q6ZWT7 OTTHUMG00000090363 ENST00000305997.3:c.*2338C>T chr2.hg19:g.8996471G>A NA A9EDR2|Q8NCE7|Q96KY4 hg19 CCDS1660.1 0.02 1.027313 CACxAAC COVERED NOVEL MBOAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206735.1 20 17.233441 KEEP 0 1 14 63 1955 GG 1 0.999962 0 - 5 60 146 0 1 8.456007 92 60 2723 232 ENST00000305997.3 0.051546 0.999962 MBOAT2 129642 __UNKNOWN__ __UNKNOWN__ 2 9069750 9069750 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:9069750A>G ENST00000305997.3 - 3 498 MBOAT2_ENST00000486484.1_Intron NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) tcaaagtgttaggattacagg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(194;1699 3813 22401) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016005 CCDS1660.1 2p25 2008-02-05 2006-06-29 2006-06-29 ENSG00000143797 ENSG00000143797 129642 25193 protein-coding gene gene with protein product 611949 O-acyltransferase (membrane bound) domain containing 2 OACT2 NA Standard NM_138799 NM_138799 NA Approved FLJ14415, FLJ90298 uc002qzg.1 Q6ZWT7 OTTHUMG00000090363 ENST00000305997.3:c.299+13565T>C chr2.hg19:g.9069750A>G NA A9EDR2|Q8NCE7|Q96KY4 hg19 CCDS1660.1 0.02 -0.157865 GTTxGGA COVERED NOVEL MBOAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206735.1 1 2.407161 KEEP 0 0 0 8 246 AA 0.99257 0.320408 0 - 3 60 101 0 0 8.091789 14 60 407 33 ENST00000305997.3 0.176471 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 10685349 10685349 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:10685349T>C NA NA AC007249.3 (89671 upstream) : NOL10 (25542 downstream) NA NA NA ggtgaaaccctgtctctacta 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.10685349T>C NA hg19 0.02 -0.263097 CCCxGTC COVERED NOVEL 0 9 2.406559 KEEP 0 0 0 8 242 TT 0.99257 0.688515 0 4 60 129 0 0 9.823517 24 60 707 52 0.142857 0.693668 C2orf50 130813 __UNKNOWN__ __UNKNOWN__ 2 11285186 11285186 __UNKNOWN__ 3'UTR SNP C C T rs187720214 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:11285186C>T ENST00000381585.3 + 0 1720 C2orf50_ENST00000405022.3_Intron Q96LR7 CB050_HUMAN chromosome 2 open reading frame 50 NA NA breast(1)|large_intestine(1)|upper_aerodigestive_tract(1) 3 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134) cttggctcaccgcaacctccg 0.493 NA C||| 2 0.000399361 0 0 5008 , , NA 18487 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057872 CCDS1678.1 2p25.1 2012-08-02 ENSG00000150873 ENSG00000150873 130813 26324 protein-coding gene gene with protein product NA 12477932 Standard NM_182500 NM_182500 NA Approved FLJ25143 uc010yjj.1 Q96LR7 OTTHUMG00000119057 ENST00000381585.3:c.*949C>T chr2.hg19:g.11285186C>T NA A8K9W3|D6W503 hg19 CCDS1678.1 0.02 1.526228 CACxGCA COVERED NOVEL C2orf50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239268.1 8 3.584674 KEEP 0 0 0 12 367 CC 0.993634 0.96464 0 + 6 60 177 0 0 12.831725 40 60 1301 86 ENST00000381585.3 0.130435 0.97082 PQLC3 130814 __UNKNOWN__ __UNKNOWN__ 2 11311964 11311964 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:11311964A>G ENST00000295083.3 + 5 529 PQLC3_ENST00000476787.1_Intron|PQLC3_ENST00000441908.2_Intron|PQLC3_ENST00000402361.1_Intron NM_152391.3 NP_689604.1 Q8N755 PQLC3_HUMAN PQ loop repeat containing 3 NA NA integral component of membrane (GO:0016021) kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132) aaagtgctggaattacaggtg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC027625 CCDS1679.1, CCDS62856.1, CCDS62857.1 2p25.1 2004-02-05 2005-07-19 2005-07-19 ENSG00000162976 ENSG00000162976 130814 28503 protein-coding gene gene with protein product chromosome 2 open reading frame 22 C2orf22 NA 12477932 Standard NM_152391 NM_001282711 NA Approved MGC33602 uc002rbc.3 Q8N755 OTTHUMG00000119055 ENST00000295083.3:c.355-87A>G chr2.hg19:g.11311964A>G NA B2R8K1|B4DWA4 hg19 CCDS1679.1 0.02 1.601956 TGGxATT COVERED NOVEL PQLC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239266.4 10 10.229817 KEEP 2 0 0 34 1085 AA 0.999998 0.995082 0 + 4 60 124 0 0 7.904829 57 60 1674 122 ENST00000295083.3 0.065574 0.995084 NBAS 51594 __UNKNOWN__ __UNKNOWN__ 2 15358815 15358815 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:15358815A>G ENST00000281513.5 - 48 6458 NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence NA NA negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956) cytoplasm (GO:0005737)|membrane (GO:0016020) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 gcctcccacaatgctgggatt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC051792 CCDS1685.1 2p24.3 2009-02-23 ENSG00000151779 ENSG00000151779 51594 15625 protein-coding gene gene with protein product 608025 NA 9926938, 12706883 Standard NM_015909 NM_015909 NA Approved NAG uc002rcc.2 A2RRP1 OTTHUMG00000121153 ENST00000281513.5:c.6432+81T>C chr2.hg19:g.15358815A>G NA O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5 hg19 CCDS1685.1 0.02 -0.438512 ACAxTGC COVERED NOVEL NBAS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241638.1 7 5.114986 KEEP 0 0 0 17 531 AA 0.999366 0.959251 0 - 3 60 102 0 0 6.847632 42 60 1240 77 ENST00000281513.5 0.066667 0.959859 RAD51AP2 729475 __UNKNOWN__ __UNKNOWN__ 2 17696016 17696016 __UNKNOWN__ Intron SNP C C G rs559230567 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:17696016C>G ENST00000399080.2 - 1 3271 NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 NA NA endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) cagcctgggccacagagctcg 0.512 NA C||| 4 0.000798722 0.003 0 5008 , , NA 16882 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK310498 CCDS42656.1 2p24.2 2009-01-13 ENSG00000214842 ENSG00000214842 729475 34417 protein-coding gene gene with protein product NA 16990250 Standard NM_001099218 NM_001099218 NA Approved FLJ17540 uc002rcl.1 Q09MP3 OTTHUMG00000151761 ENST00000399080.2:c.3247+419G>C chr2.hg19:g.17696016C>G NA hg19 CCDS42656.1 0.02 1.702684 GGCxACA COVERED NOVEL RAD51AP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323801.3 6 5.718736 KEEP 0 0 0 19 679 CC 0.99986 0.998325 0 - 6 60 193 2 1 14.263614 43 60 1371 115 ENST00000399080.2 0.122449 0.998465 SMC6 79677 __UNKNOWN__ __UNKNOWN__ 2 17898447 17898447 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:17898447A>T ENST00000448223.2 - 13 1362 SMC6_ENST00000381272.4_Intron|SMC6_ENST00000351948.4_Intron|SMC6_ENST00000402989.1_Intron NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 NA NA cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722) chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915) ATP binding (GO:0005524) NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATAAAACCTAACCAAAAAAAT 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 71 69 70 NA NA NA 2 NA NA 17898447 2199 4293 6492 SO:0001627 intron_variant AJ310551 CCDS1690.1 2p24.3 2008-02-05 2006-07-06 2006-07-06 ENSG00000163029 ENSG00000163029 79677 Structural maintenance of chromosomes proteins 20466 protein-coding gene gene with protein product 609387 SMC6 structural maintenance of chromosomes 6-like 1 (yeast) SMC6L1 NA 11230166 Standard NM_024624 NM_024624 NA Approved FLJ22116 uc002rcn.3 Q96SB8 OTTHUMG00000090675 ENST00000448223.2:c.1093-4T>A chr2.hg19:g.17898447A>T NA A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0 hg19 CCDS1690.1 0.02 -0.341226 CTAxCCA COVERED NOVEL SMC6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207359.1 0 3.006784 KEEP 0 0 0 10 285 AA 0.992708 0.859432 0 - 22 60 614 0 0 60.221741 17 60 470 61 ENST00000448223.2 0.564103 0.865745 SMC6 79677 __UNKNOWN__ __UNKNOWN__ 2 17920127 17920127 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:17920127G>C ENST00000448223.2 - 5 508 SMC6_ENST00000381272.4_Intron|SMC6_ENST00000351948.4_Intron|SMC6_ENST00000402989.1_Intron NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 NA NA cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722) chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915) ATP binding (GO:0005524) NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) gttgcccagggtggtctcaaa 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ310551 CCDS1690.1 2p24.3 2008-02-05 2006-07-06 2006-07-06 ENSG00000163029 ENSG00000163029 79677 Structural maintenance of chromosomes proteins 20466 protein-coding gene gene with protein product 609387 SMC6 structural maintenance of chromosomes 6-like 1 (yeast) SMC6L1 NA 11230166 Standard NM_024624 NM_024624 NA Approved FLJ22116 uc002rcn.3 Q96SB8 OTTHUMG00000090675 ENST00000448223.2:c.239-534C>G chr2.hg19:g.17920127G>C NA A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0 hg19 CCDS1690.1 0.02 1.774521 AGGxTGG COVERED NOVEL SMC6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207359.1 10 4.515043 KEEP 0 0 0 15 562 GG 0.99649 0.993663 0 - 4 60 144 0 0 9.840555 59 60 1988 117 ENST00000448223.2 0.063492 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 18653141 18653141 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:18653141T>C NA NA KCNS3 (110259 upstream) : RP11-111J6.2 (75510 downstream) NA NA NA tggtggctcatgcctgtaatc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.18653141T>C NA hg19 0.02 -0.271857 TCAxGCC COVERED NOVEL 0 6 2.40713 KEEP 2 0 0 8 245 TT 0.99257 0.711986 0 4 60 131 0 0 9.894504 26 60 747 56 0.133333 0.717315 RP11-507M3.1 0 __UNKNOWN__ __UNKNOWN__ 2 24357760 24357760 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:24357760T>C ENST00000584973.1 + 2 95 FAM228B_ENST00000420135.2_Intron|FAM228B_ENST00000407625.1_Intron NA NA NA gtggaggttgtagtgagccga 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000584973.1:c.7-229T>C chr2.hg19:g.24357760T>C NA hg19 0.02 -0.026307 TTGxAGT UNCOVERED NOVEL RP11-507M3.1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000443615.1 1 3.309245 KEEP 1 0 0 11 328 TT 0.993072 0 0 + 2 60 68 0 0 6.925775 1 60 24 18 ENST00000584973.1 0.666667 0 EFR3B 22979 __UNKNOWN__ __UNKNOWN__ 2 25368218 25368218 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:25368218C>T ENST00000403714.3 + 19 2325 EFR3B_ENST00000405108.1_Intron|EFR3B_ENST00000402191.1_Intron|EFR3B_ENST00000401432.3_3'UTR NM_014971.1 NP_055786.1 Q9Y2G0 EFR3B_HUMAN EFR3 homolog B (S. cerevisiae) NA NA endometrium(1) 1 ggcaggaggactgcttgagcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023170 CCDS46231.1 2p24.1 2008-02-05 2007-11-14 2007-11-14 ENSG00000084710 ENSG00000084710 22979 29155 protein-coding gene gene with protein product KIAA0953 KIAA0953 NA 10231032 Standard NM_014971 NM_014971 NA Approved FLJ37871 uc010eyh.3 Q9Y2G0 OTTHUMG00000151988 ENST00000403714.3:c.2142+298C>T chr2.hg19:g.25368218C>T NA B7WPL8|Q86XU6 hg19 CCDS46231.1 0.02 -0.350892 GGAxTGC COVERED NOVEL EFR3B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324808.1 8 4.815708 KEEP 1 0 0 16 579 CC 0.997832 0.875805 0 + 4 60 118 0 0 8.258235 32 60 1080 76 ENST00000403714.3 0.111111 0.877708 HADHA 3030 __UNKNOWN__ __UNKNOWN__ 2 26467551 26467551 __UNKNOWN__ 5'UTR SNP C C G rs536037279 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:26467551C>G ENST00000380649.3 - 0 43 NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit NA NA cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281) mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) 3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287) autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCAGCCAGGCGCCTGGAGCA 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D16480 CCDS1721.1 2p23 2014-09-17 2010-04-30 ENSG00000084754 ENSG00000084754 3030 1.1.1.211, 4.2.1.17 4801 protein-coding gene gene with protein product gastrin-binding protein, long-chain-3-hydroxyacyl-CoA dehydrogenase, long-chain 2-enoyl-CoA hydratase, mitochondrial trifunctional protein, alpha subunit 600890 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit NA 9605857, 7918661 Standard NM_000182 NM_000182 NA Approved GBP, LCEH, LCHAD, MTPA uc002rgy.3 P40939 OTTHUMG00000096979 ENST00000380649.3:c.-87G>C chr2.hg19:g.26467551C>G NA B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5 hg19 CCDS1721.1 0.02 5.878351 AGGxGCC COVERED NOVEL HADHA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214051.1 0 46.642702 KEEP 0 0 0 155 5207 CC 1 1 0 - 139 60 4610 0 0 484.57108 42 60 1415 478 ENST00000380649.3 0.767956 1 DRC1 92749 __UNKNOWN__ __UNKNOWN__ 2 26671306 26671306 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:26671306G>A ENST00000288710.2 + 11 1470 NM_145038.2 NP_659475.2 Q96MC2 DRC1_HUMAN dynein regulatory complex subunit 1 NA NA axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285) axoneme (GO:0005930)|cytoskeleton (GO:0005856) NA GACGCAATTTGGAAAAGTAGG 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833892 CCDS1723.1 2p23.3 2014-07-18 2014-07-18 2013-03-14 ENSG00000157856 ENSG00000157856 92749 24245 protein-coding gene gene with protein product 615288 chromosome 2 open reading frame 39, coiled-coil domain containing 164, dynein regulatory complex subunit 1 homolog (Chlamydomonas) C2orf39, CCDC164 NA 23354437 Standard NM_145038 NM_145038 NA Approved MGC16372, FLJ32660, CILD21 uc002rhg.2 Q96MC2 OTTHUMG00000125531 ENST00000288710.2:c.1397-253G>A chr2.hg19:g.26671306G>A NA A8K1N8|Q53R91|Q53TA3|Q8NDI5 hg19 CCDS1723.1 0.02 1.284733 TTTxGAA COVERED NOVEL DRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246862.1 4 18.661059 KEEP 0 0 0 62 2210 GG 1 0.984161 0 + 5 60 144 1 0 9.516172 50 60 1709 168 ENST00000288710.2 0.090909 0.984161 CIB4 130106 __UNKNOWN__ __UNKNOWN__ 2 26846321 26846321 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:26846321T>C ENST00000288861.4 - 3 240 CIB4_ENST00000405346.3_5'UTR NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 NA NA calcium ion binding (GO:0005509) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCAGGACTTTTCATCGCTT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33160.1 2p23.3 2013-01-10 ENSG00000157884 ENSG00000157884 130106 EF-hand domain containing 33703 protein-coding gene gene with protein product 610646 NA 15574431 Standard NM_001029881 NA Approved uc002rhm.3 A0PJX0 OTTHUMG00000151993 ENST00000288861.4:c.186+5956A>G chr2.hg19:g.26846321T>C NA B2RU18 hg19 CCDS33160.1 0.02 1.746094 ACTxTTC COVERED NOVEL CIB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324709.1 4 17.144924 KEEP 0 0 0 57 1699 TT 1 0.99993 0 - 48 60 1598 0 0 153.809724 48 60 1335 214 ENST00000288861.4 0.5 0.99993 DPYSL5 56896 __UNKNOWN__ __UNKNOWN__ 2 27172879 27172879 __UNKNOWN__ 3'UTR SNP C C T rs180823018 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27172879C>T ENST00000288699.6 + 0 4869 NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 NA NA axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165) cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812) breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) tgtgcgtgtgcgtgcgtgtgt 0.478 NA C||| 1 0.000199681 0 0.0014 5008 , , NA 19127 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF264015 CCDS1730.1 2p23.3 2008-02-05 ENSG00000157851 ENSG00000157851 56896 20637 protein-coding gene gene with protein product 608383 NA 10851247, 11034345 Standard NM_020134 NM_020134 NA Approved CRMP5, Ulip6, CRMP-5, CRAM uc002rhu.4 Q9BPU6 OTTHUMG00000097071 ENST00000288699.6:c.*3016C>T chr2.hg19:g.27172879C>T NA Q8TCL6|Q9NQC4|Q9NRY9 hg19 CCDS1730.1 0.02 4.063064 GTGxGTG COVERED NOVEL DPYSL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214187.2 16 17.1523 KEEP 0 3 97 91 3047 CC 1 1 0 + 8 60 239 1 0 13.627944 167 60 5389 364 ENST00000288699.6 0.045714 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 27272241 27272241 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27272241T>C NA NA TMEM214 (7678 upstream) : AGBL5-AS1 (309 downstream) NA NA NA ggattacaggtgtgagccacc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.27272241T>C NA hg19 0.02 -0.271894 AGGxGTG COVERED NOVEL 0 4 2.406378 KEEP 0 0 0 8 237 TT 0.99257 0.711986 0 4 60 137 0 0 10.622701 24 60 720 52 0.142857 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 27376458 27376458 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27376458C>T NA NA TCF23 (80 upstream) : SLC5A6 (45996 downstream) NA NA NA cccaggctggcctcgaacccc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.27376458C>T NA hg19 0.02 -0.254392 TGGxCTC COVERED NOVEL 0 6 3.912329 KEEP 0 0 0 13 446 CC 0.994391 0.664773 0 3 60 92 0 0 6.493046 25 60 837 59 0.107143 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 27376466 27376466 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27376466C>T NA NA TCF23 (88 upstream) : SLC5A6 (45988 downstream) NA NA NA ggcctcgaacccctggcctca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.27376466C>T NA hg19 0.02 -0.245613 AACxCCT COVERED NOVEL 0 9 3.611572 KEEP 0 0 0 12 412 CC 0.993634 0.637264 0 3 60 90 0 0 6.395477 23 60 758 54 0.115385 0.641347 CAD 790 __UNKNOWN__ __UNKNOWN__ 2 27460172 27460172 __UNKNOWN__ Intron SNP G G A rs148702850 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27460172G>A ENST00000403525.1 + 27 4351 CAD_ENST00000264705.4_Intron O76075 DFFB_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase NA NA apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921) cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) gattacaggcgtgagccacca 0.512 NA G||| 4 0.000798722 0 0.0014 5008 , , NA 18908 0.003 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D78586 CCDS1742.1 2p22-p21 2012-10-02 ENSG00000084774 ENSG00000084774 790 2.1.3.2, 3.5.2.- 1424 protein-coding gene gene with protein product 114010 NA 8619816, 2565865 Standard NM_004341 NA Approved uc002rji.3 P27708 OTTHUMG00000097070 ENST00000403525.1:c.4208-75G>A chr2.hg19:g.27460172G>A NA O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6 hg19 0.02 1.642946 GGCxTGA COVERED NOVEL CAD-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000324970.1 9 2.540406 KEEP 1 1 33 20 630 GG 0.999869 0.963648 0 + 6 60 178 0 0 12.756611 43 60 1326 91 ENST00000403525.1 0.122449 0.963774 CAD 790 __UNKNOWN__ __UNKNOWN__ 2 27463072 27463072 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27463072A>G ENST00000403525.1 + 34 5451 CAD_ENST00000264705.4_Intron O76075 DFFB_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase NA NA apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921) cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) gagcgacagaacgagactccg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D78586 CCDS1742.1 2p22-p21 2012-10-02 ENSG00000084774 ENSG00000084774 790 2.1.3.2, 3.5.2.- 1424 protein-coding gene gene with protein product 114010 NA 8619816, 2565865 Standard NM_004341 NA Approved uc002rji.3 P27708 OTTHUMG00000097070 ENST00000403525.1:c.5308-61A>G chr2.hg19:g.27463072A>G NA O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6 hg19 0.02 3.824526 AGAxCGA COVERED NOVEL CAD-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000324970.1 10 2.479149 KEEP 0 5 186 73 2290 AA 1 0.999999 0 + 5 60 178 1 0 11.481207 99 60 2968 249 ENST00000403525.1 0.048077 0.999999 TRIM54 57159 __UNKNOWN__ __UNKNOWN__ 2 27522596 27522596 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27522596T>C ENST00000380075.2 + 3 853 TRIM54_ENST00000296098.4_Intron NM_187841.2 NP_912730.2 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 NA NA cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875) signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270) cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAttttgagatggagtctcgc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ291714 CCDS1745.2, CCDS1746.2 2p23.3 2013-01-09 2011-01-25 2004-11-17 ENSG00000138100 ENSG00000138100 57159 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 16008 protein-coding gene gene with protein product 606474 ring finger protein 30, tripartite motif-containing 54 RNF30 NA 11243782 Standard NM_187841 NM_032546 NA Approved MURF, MURF-3 uc002rjn.3 Q9BYV2 OTTHUMG00000097078 ENST00000380075.2:c.513+312T>C chr2.hg19:g.27522596T>C NA A5D8T7|Q53SY4|Q9BYV3 hg19 CCDS1746.2 0.02 -0.420929 AGAxGGA COVERED NOVEL TRIM54-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214199.2 8 3.309833 KEEP 0 0 0 11 347 TT 0.993072 0.941832 0 + 3 60 100 0 0 6.806781 37 60 1071 71 ENST00000380075.2 0.075 0.948402 MPV17 4358 __UNKNOWN__ __UNKNOWN__ 2 27538634 27538634 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27538634A>G ENST00000405983.1 - 3 87 MPV17_ENST00000403262.2_Intron|MPV17_ENST00000402722.1_Intron|MPV17_ENST00000380044.1_Intron|MPV17_ENST00000399052.4_3'UTR|MPV17_ENST00000402310.1_Intron|MPV17_ENST00000405076.1_Intron|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000233545.2_Intron P39210 MPV17_HUMAN MpV17 mitochondrial inner membrane protein NA NA cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777) lung(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) tcaccatgttagccaggctgg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1748.1 2p23.3 2008-02-05 2006-05-12 ENSG00000115204 ENSG00000115204 4358 7224 protein-coding gene gene with protein product glomerulosclerosis 137960 MpV17 transgene, murine homolog, glomerulosclerosis NA 8281143, 16582910 Standard NM_002437 XM_005264326 NA Approved SYM1 uc002rjs.3 P39210 OTTHUMG00000097074 ENST00000405983.1:c.71-2613T>C chr2.hg19:g.27538634A>G NA D6W555|Q53SY2|Q96B08 hg19 0.02 1.70798 GTTxGCC COVERED NOVEL MPV17-010 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000325039.1 4 11.132844 KEEP 0 0 0 37 1131 AA 1 0.999835 0 - 7 60 224 0 0 15.323235 76 60 2087 133 ENST00000405983.1 0.084337 0.999835 SNX17 9784 __UNKNOWN__ __UNKNOWN__ 2 27596481 27596481 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27596481T>C ENST00000233575.2 + 5 543 SNX17_ENST00000537606.1_Intron|SNX17_ENST00000542478.1_Intron|SNX17_ENST00000543024.1_Intron NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 NA NA cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234) low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ccacccgccttggcctcccaa 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D31764 CCDS1750.1, CCDS58704.1 2p23-p22 2008-05-21 ENSG00000115234 ENSG00000115234 9784 Sorting nexins 14979 protein-coding gene gene with protein product 605963 NA 12169628, 15769472 Standard NM_014748 NM_014748 NA Approved KIAA0064 uc002rkg.2 Q15036 OTTHUMG00000097781 ENST00000233575.2:c.322-247T>C chr2.hg19:g.27596481T>C NA B4DQM7|Q53HN7|Q6IAS3 hg19 CCDS1750.1 0.02 -0.219169 CCTxGGC UNCOVERED NOVEL SNX17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215024.1 6 2.406431 KEEP 3 0 0 8 238 TT 0 0 0 + 3 60 95 0 0 7.127645 19 60 523 52 ENST00000233575.2 0.136364 0.552887 PPM1G 5496 __UNKNOWN__ __UNKNOWN__ 2 27613151 27613151 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27613151C>T ENST00000344034.4 - 2 385 PPM1G_ENST00000350803.4_Intron NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G NA NA cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) cctcccaaaacgctgggatta 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y13936 CCDS1752.1 2p23.3 2012-04-17 2010-03-05 ENSG00000115241 ENSG00000115241 5496 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 9278 protein-coding gene gene with protein product PP2C, gamma, protein phosphatase 2C, gamma isoform 605119 protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform NA 9276438 Standard NM_002707 NM_177983 NA Approved PP2CG, PP2Cgamma uc002rkl.4 O15355 OTTHUMG00000097788 ENST00000344034.4:c.121-3126G>A chr2.hg19:g.27613151C>T NA hg19 CCDS1752.1 0.02 -0.061396 AAAxGCT UNCOVERED NOVEL PPM1G-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215032.1 2 2.407225 KEEP 0 0 0 8 258 CC 0.99257 0.043461 0 - 3 60 90 0 0 8.35487 4 60 125 21 ENST00000344034.4 0.428571 0.043787 NRBP1 29959 __UNKNOWN__ __UNKNOWN__ 2 27655934 27655934 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27655934T>C ENST00000233557.3 + 3 807 NRBP1_ENST00000379863.3_Intron|NRBP1_ENST00000379852.3_Intron Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) ttagtagagatggggtttcac 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF113249 CCDS1753.1 2p23 2008-02-05 2005-12-22 2005-12-22 ENSG00000115216 ENSG00000115216 29959 7993 protein-coding gene gene with protein product 606010 nuclear receptor binding protein NRBP NA 10843813, 11956649 Standard NM_013392 NM_013392 NA Approved BCON3, MUDPNP, MADM uc002rkp.3 Q9UHY1 OTTHUMG00000097789 ENST00000233557.3:c.-25-182T>C chr2.hg19:g.27655934T>C NA B3KV40|D6W558|Q53FZ5|Q96SU3 hg19 CCDS1753.1 0.02 -0.298132 AGAxGGG COVERED NOVEL NRBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215033.1 5 7.192042 KEEP 3 0 0 24 682 TT 0.999909 0.780989 0 + 4 60 129 0 0 9.633865 27 60 744 69 ENST00000233557.3 0.129032 0.78106 NRBP1 29959 __UNKNOWN__ __UNKNOWN__ 2 27656026 27656026 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27656026A>G ENST00000233557.3 + 3 807 NRBP1_ENST00000379863.3_Intron|NRBP1_ENST00000379852.3_Intron Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) gattacaggcatgagccacca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF113249 CCDS1753.1 2p23 2008-02-05 2005-12-22 2005-12-22 ENSG00000115216 ENSG00000115216 29959 7993 protein-coding gene gene with protein product 606010 nuclear receptor binding protein NRBP NA 10843813, 11956649 Standard NM_013392 NM_013392 NA Approved BCON3, MUDPNP, MADM uc002rkp.3 Q9UHY1 OTTHUMG00000097789 ENST00000233557.3:c.-25-90A>G chr2.hg19:g.27656026A>G NA B3KV40|D6W558|Q53FZ5|Q96SU3 hg19 CCDS1753.1 0.02 5.42866 GGCxTGA COVERED NOVEL NRBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215033.1 36 25.700531 KEEP 5 4 139 134 4145 AA 1 1 0 + 8 60 259 0 0 16.237205 139 60 4190 389 ENST00000233557.3 0.054422 1 FNDC4 64838 __UNKNOWN__ __UNKNOWN__ 2 27716159 27716159 __UNKNOWN__ Intron SNP G G A rs373970363 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27716159G>A ENST00000264703.3 - 5 936 NM_022823.2 NP_073734.1 Q9H6D8 FNDC4_HUMAN fibronectin type III domain containing 4 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) gattacaggcgtgagccactg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026015 CCDS1756.1 2p23.3 2013-02-11 ENSG00000115226 ENSG00000115226 64838 Fibronectin type III domain containing 20239 protein-coding gene gene with protein product 611905 NA 12384288 Standard NM_022823 NM_022823 NA Approved FLJ22362, FRCP1 uc002rkx.3 Q9H6D8 OTTHUMG00000097787 ENST00000264703.3:c.544+96C>T chr2.hg19:g.27716159G>A NA D6W560 hg19 CCDS1756.1 0.02 2.693326 GGCxTGA COVERED NOVEL FNDC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215031.1 20 12.937705 KEEP 2 0 0 43 1401 GG 1 1 0 - 7 60 188 2 0 10.174344 135 60 4258 264 ENST00000264703.3 0.049296 1 GCKR 2646 __UNKNOWN__ __UNKNOWN__ 2 27732483 27732483 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:27732483G>A ENST00000264717.2 + 16 1485 GCKR_ENST00000424318.2_Intron NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator NA NA carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654) carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) tgctgagattgcaggcgtgag 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z48475 CCDS1757.1 2p23 2008-05-21 2004-05-20 ENSG00000084734 ENSG00000084734 2646 4196 protein-coding gene gene with protein product 600842 glucokinase (hexokinase 4) regulatory protein NA 9570959, 8662230 Standard NM_001486 NM_001486 NA Approved uc002rky.3 Q14397 OTTHUMG00000128426 ENST00000264717.2:c.1422+1365G>A chr2.hg19:g.27732483G>A NA A1L4C2|B4DPQ2|Q53RY6|Q99522 hg19 CCDS1757.1 0.02 -0.403492 ATTxCAG COVERED NOVEL GCKR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250214.1 9 3.245052 KEEP 0 1 29 21 762 GG 0.999879 0.934379 0 + 4 60 104 0 0 6.672139 36 60 1234 93 ENST00000264717.2 0.1 0.934492 BRE 9577 __UNKNOWN__ __UNKNOWN__ 2 28310797 28310797 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:28310797A>G ENST00000342045.2 + 8 711 BRE_ENST00000361704.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000344773.2_Intron|BRE_ENST00000379624.1_Intron NM_199194.2 NP_954664.1 brain and reproductive organ-expressed (TNFRSF1A modulator) NA NA NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) gattacaggcatgagccacca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF015767 CCDS1763.1, CCDS1764.1, CCDS1765.1 2p23 2008-02-05 ENSG00000158019 ENSG00000158019 9577 1106 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 4 610497 NA 9737713, 7826398 Standard NM_004899 NA Approved BRCC45, BRCC4 uc002rls.3 Q9NXR7 OTTHUMG00000097831 ENST00000342045.2:c.571-41341A>G chr2.hg19:g.28310797A>G NA hg19 CCDS1763.1 0.02 -0.184186 GGCxTGA COVERED NOVEL BRE-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215114.1 7 3.310323 KEEP 1 0 0 11 355 AA 0.992708 0.42039 0 + 3 60 101 0 0 7.933292 16 60 473 50 ENST00000342045.2 0.157895 0.423478 AC097724.3 0 __UNKNOWN__ __UNKNOWN__ 2 28953560 28953560 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:28953560A>G ENST00000452212.1 - 0 179 AC097724.3_ENST00000444501.1_RNA|AC097724.3_ENST00000428036.1_RNA NA NA NA gctgaggtggaaggatcgctg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000452212.1: chr2.hg19:g.28953560A>G NA hg19 0.02 -0.289418 TGGxAGG COVERED NOVEL AC097724.3-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000324850.1 9 2.407572 KEEP 0 0 0 8 261 AA 0.99257 0.755234 0 - 3 60 104 0 0 7.597425 27 60 801 65 ENST00000452212.1 0.1 0.760887 WDR43 23160 __UNKNOWN__ __UNKNOWN__ 2 29129242 29129242 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:29129242T>C ENST00000407426.3 + 3 419 NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 NA NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) aatcccagcatcttgggagag 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87716 CCDS46251.1 2p23.3 2013-01-09 ENSG00000163811 ENSG00000163811 23160 WD repeat domain containing 28945 protein-coding gene gene with protein product UTP5, small subunit (SSU) processome component, homolog (yeast) NA 7584026, 7584028, 17699751 Standard XM_087089 NM_015131 NA Approved KIAA0007, NET12, UTP5 uc002rmo.2 Q15061 OTTHUMG00000152015 ENST00000407426.3:c.364-84T>C chr2.hg19:g.29129242T>C NA Q15395|Q92577 hg19 CCDS46251.1 0.02 1.610949 GCAxCTT COVERED NOVEL WDR43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324865.1 8 11.730365 KEEP 0 0 0 39 1141 TT 1 0.995687 0 + 4 60 133 0 0 8.772046 58 60 1578 114 ENST00000407426.3 0.064516 0.995687 LCLAT1 253558 __UNKNOWN__ __UNKNOWN__ 2 30819087 30819087 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:30819087C>A ENST00000379509.3 + 5 780 LCLAT1_ENST00000359433.1_Intron|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000540623.1_Intron|LCLAT1_ENST00000319406.4_Intron|LCLAT1_ENST00000309052.4_Intron NM_001002257.1 NP_001002257.1 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 NA NA cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 cgccacactgccttccacagt 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095284 CCDS1772.1, CCDS42670.1 2p23.1 2008-12-15 2008-12-15 2008-12-15 ENSG00000172954 ENSG00000172954 253558 26756 protein-coding gene gene with protein product 614241 lysocardiolipin acyltransferase LYCAT NA 18931347, 15152008, 16620771, 17675553 Standard NM_182551 NM_001002257 NA Approved FLJ37965, ALCAT1, AGPAT8 uc002rnl.3 Q6UWP7 OTTHUMG00000099349 ENST00000379509.3:c.628+28045C>A chr2.hg19:g.30819087C>A NA A6H8Z7|Q8N1Q7 hg19 CCDS42670.1 0.02 2.91627 CTGxCTT COVERED NOVEL LCLAT1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353432.1 14 4.048592 KEEP 1 1 33 25 886 CC 0.999957 0.99995 0 + 7 60 192 0 0 11.6557 90 60 3030 191 ENST00000379509.3 0.072165 0.999993 LCLAT1 253558 __UNKNOWN__ __UNKNOWN__ 2 30864769 30864769 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:30864769T>C ENST00000379509.3 + 0 2567 LCLAT1_ENST00000309052.4_3'UTR NM_001002257.1 NP_001002257.1 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 NA NA cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 tttctttttttttttcttttt 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095284 CCDS1772.1, CCDS42670.1 2p23.1 2008-12-15 2008-12-15 2008-12-15 ENSG00000172954 ENSG00000172954 253558 26756 protein-coding gene gene with protein product 614241 lysocardiolipin acyltransferase LYCAT NA 18931347, 15152008, 16620771, 17675553 Standard NM_182551 NM_001002257 NA Approved FLJ37965, ALCAT1, AGPAT8 uc002rnl.3 Q6UWP7 OTTHUMG00000099349 ENST00000379509.3:c.*1284T>C chr2.hg19:g.30864769T>C NA A6H8Z7|Q8N1Q7 hg19 CCDS42670.1 0.02 -0.157852 TTTxTTT COVERED NOVEL LCLAT1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353432.1 1 2.692244 KEEP 0 0 0 9 259 TT 0.99254 0.320398 0 + 3 60 100 0 2 8.17248 12 60 345 37 ENST00000379509.3 0.2 0.322807 YIPF4 84272 __UNKNOWN__ __UNKNOWN__ 2 32533723 32533723 __UNKNOWN__ 3'UTR SNP G G A rs537978330 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:32533723G>A ENST00000238831.4 + 0 4009 NM_032312.3 NP_115688.1 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 NA NA endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886) kidney(2)|lung(3)|prostate(3)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) cagaggttgcggtgagctgag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098486 CCDS1781.1 2p22.3 2008-02-05 ENSG00000119820 ENSG00000119820 84272 Yip1 domain family 28145 protein-coding gene gene with protein product NA 12477932 Standard NM_032312 NM_032312 NA Approved MGC11061, FinGER4 uc002rok.3 Q9BSR8 OTTHUMG00000128452 ENST00000238831.4:c.*3028G>A chr2.hg19:g.32533723G>A NA hg19 CCDS1781.1 0.02 4.5434 TGCxGTG COVERED NOVEL YIPF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250250.3 18 15.211545 KEEP 1 2 58 71 2302 GG 1 1 0 + 13 60 388 0 0 24.722452 168 60 5187 327 ENST00000238831.4 0.071823 1 YIPF4 84272 __UNKNOWN__ __UNKNOWN__ 2 32533730 32533730 __UNKNOWN__ 3'UTR SNP T T C rs537978330 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:32533730T>C ENST00000238831.4 + 0 4016 NM_032312.3 NP_115688.1 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 NA NA endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886) kidney(2)|lung(3)|prostate(3)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) tgcggtgagctgagatcgcgc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098486 CCDS1781.1 2p22.3 2008-02-05 ENSG00000119820 ENSG00000119820 84272 Yip1 domain family 28145 protein-coding gene gene with protein product NA 12477932 Standard NM_032312 NM_032312 NA Approved MGC11061, FinGER4 uc002rok.3 Q9BSR8 OTTHUMG00000128452 ENST00000238831.4:c.*3035T>C chr2.hg19:g.32533730T>C NA hg19 CCDS1781.1 0.02 6.957735 AGCxGAG COVERED NOVEL YIPF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250250.3 27 22.867707 KEEP 1 0 0 76 2353 TT 1 1 0 + 8 60 255 2 0 14.648282 198 60 5743 385 ENST00000238831.4 0.038835 1 BIRC6 57448 __UNKNOWN__ __UNKNOWN__ 2 32842285 32842285 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:32842285A>G ENST00000421745.2 + 74 14528 NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 NA NA apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712) endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802) acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) tggccaacatagtgaaacccc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(94;175 1509 16028 18060 45422) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF265555 CCDS33175.2 2p22.3 2011-01-25 2011-01-25 ENSG00000115760 ENSG00000115760 57448 Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2 13516 protein-coding gene gene with protein product apollon 605638 baculoviral IAP repeat-containing 6 NA 10544019 Standard NM_016252 NM_016252 NA Approved BRUCE uc010ezu.3 Q9NR09 OTTHUMG00000150528 ENST00000421745.2:c.14395-507A>G chr2.hg19:g.32842285A>G NA Q9ULD1 hg19 CCDS33175.2 0.02 -0.157852 CATxGTG COVERED NOVEL BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318769.3 3 2.406394 KEEP 0 0 0 8 236 AA 0.99257 0.320408 0 + 3 60 85 0 0 6.49295 14 60 406 33 ENST00000421745.2 0.176471 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 35907395 35907395 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:35907395A>G NA NA RNU6-1117P (210621 upstream) : RP11-490M8.1 (674496 downstream) NA NA NA gctcacgcctataatcccagc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.35907395A>G NA hg19 0.02 -0.210398 CCTxTAA COVERED NOVEL 0 7 2.40727 KEEP 2 0 0 8 247 AA 0.99257 0.518282 0 3 60 97 0 0 7.461344 17 60 489 50 0.15 0.522161 AC007401.2 0 __UNKNOWN__ __UNKNOWN__ 2 36777211 36777211 __UNKNOWN__ Intron SNP C C T rs529018725 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:36777211C>T ENST00000406220.1 - 1 213 CRIM1_ENST00000280527.2_3'UTR NA NA NA tgtgtgtgtgCGCGCGCACGC 0.413 NA -||| 79 0.0157748 0.0363 0.0043 5008 , , NA 13733 0.0159 NA 0.004 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000406220.1:c.64+1987G>A chr2.hg19:g.36777211C>T NA hg19 0.02 2.684278 GTGxGCG COVERED NOVEL AC007401.2-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000325456.1 17 13.844168 KEEP 0 0 0 46 1601 CC 1 0.999978 0 - 6 60 171 0 0 10.126104 94 60 3090 216 ENST00000406220.1 0.06 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 37195652 37195652 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:37195652A>G NA NA STRN (2037 upstream) : HEATR5B (12387 downstream) NA NA NA cgaggcgggtagatcactgga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.37195652A>G NA hg19 0.02 3.515934 GGTxGAT COVERED . . . . . . . . . . A 1.847 -0.465875 0.04476 . . ENSG00000008869 ENST00000425467 . . . 0.235 0.235 0.15431 . . . . . T 0.39600 0.1084 . . . 0.09310 N 0.999999 . . . . . . T 0.38542 -0.9656 4 0.72032 D 0.01 . . . . . . . . H 103 . ENSP00000408222:Y103H Y - 1 0 HEATR5B 37049156 0.083000 0.21467 0.030000 0.17652 0.032000 0.12392 0.349000 0.20055 0.263000 0.21812 0.260000 0.18958 TAC NOVEL 0 11 23.459368 KEEP 0 0 0 78 2293 AA 1 1 0 6 60 179 0 0 10.215235 125 60 3405 287 0.045802 1 NDUFAF7 55471 __UNKNOWN__ __UNKNOWN__ 2 37475998 37475998 __UNKNOWN__ 3'UTR SNP G G A rs564771869 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:37475998G>A ENST00000002125.4 + 0 1871 NDUFAF7_ENST00000336237.6_3'UTR NM_144736.4 NP_653337.1 Q7L592 NDUF7_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 NA NA methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981) extracellular space (GO:0005615)|mitochondrion (GO:0005739) enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168) NA tggaggttgcggtgagctgag 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1788.1, CCDS42673.1 2p22.2 2012-10-12 2012-10-12 2012-10-12 ENSG00000003509 ENSG00000003509 55471 Mitochondrial respiratory chain complex assembly factors 28816 protein-coding gene gene with protein product mitochondrial dysfunction protein A homolog 615898 chromosome 2 open reading frame 56 C2orf56 NA Standard NM_144736 NM_144736 NA Approved PRO1853, MidA uc002rqa.4 Q7L592 OTTHUMG00000128468 ENST00000002125.4:c.*505G>A chr2.hg19:g.37475998G>A NA Q7Z399|Q9P1G3 hg19 CCDS1788.1 0.02 1.42735 TGCxGTG COVERED NOVEL NDUFAF7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250267.1 2 3.00923 KEEP 0 0 0 10 325 CG 0.993072 0.964095 0 + 5 60 142 0 0 9.724552 41 60 1286 78 ENST00000002125.4 0.108696 0.97082 ATL2 64225 __UNKNOWN__ __UNKNOWN__ 2 38558314 38558314 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:38558314T>C ENST00000378954.4 - 2 365 ATL2_ENST00000539122.1_Intron|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000332337.4_Intron|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000419554.2_Intron|ATL2_ENST00000452935.2_Intron|ATL2_ENST00000406122.1_Intron NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 NA NA endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 tggtggctcatgcctgtaatc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1795.1, CCDS46260.1 2p22.3 2008-09-17 2008-09-17 2008-09-17 ENSG00000119787 ENSG00000119787 64225 24047 protein-coding gene gene with protein product 609368 ADP-ribosylation factor-like 6 interacting protein 2 ARL6IP2 NA 10508919, 18270207 Standard NM_022374 NM_022374 NA Approved uc002rqq.3 Q8NHH9 OTTHUMG00000102074 ENST00000378954.4:c.363+12095A>G chr2.hg19:g.38558314T>C NA B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7 hg19 CCDS46260.1 0.02 -0.350773 TCAxGCC COVERED NOVEL ATL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219886.2 10 2.7081 KEEP 1 0 0 9 281 TT 0.99257 0.882271 0 - 3 60 101 2 0 6.975748 35 60 1017 64 ENST00000378954.4 0.078947 0.888875 AC016995.3 0 __UNKNOWN__ __UNKNOWN__ 2 38693596 38693596 __UNKNOWN__ lincRNA SNP G G A rs376610310 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:38693596G>A ENST00000417039.1 - 0 894 NA NA NA ctcgtgatccgcccacctcgg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000417039.1: chr2.hg19:g.38693596G>A NA hg19 0.02 -0.210511 TCCxCCC COVERED NOVEL AC016995.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000331173.1 4 2.708873 KEEP 0 0 0 9 324 GG 0.99254 0.518266 0 - 3 60 88 0 0 6.36615 20 60 639 45 ENST00000417039.1 0.130435 0.522161 HNRNPLL 92906 __UNKNOWN__ __UNKNOWN__ 2 38825033 38825033 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:38825033C>G ENST00000449105.3 - 1 529 HNRNPLL_ENST00000409636.1_Intron|HNRNPLL_ENST00000608859.1_Intron|HNRNPLL_ENST00000409328.1_Intron|HNRNPLL_ENST00000410076.1_Intron|HNRNPLL_ENST00000498516.1_Intron|HNRNPLL_ENST00000358367.4_Intron|HNRNPLL_ENST00000378915.3_Intron Q8WVV9 HNRLL_HUMAN heterogeneous nuclear ribonucleoprotein L-like NA NA mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120) membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) NA gtttcaccatcttggccaggc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008217 CCDS46261.1, CCDS1796.2 2p22 2014-02-10 2013-06-12 ENSG00000143889 ENSG00000143889 92906 RNA binding motif (RRM) containing 25127 protein-coding gene gene with protein product 611208 HNRPLL NA 18669861 Standard NM_138394 NM_138394 NA Approved uc021vgc.1 Q8WVV9 OTTHUMG00000102075 ENST00000449105.3:c.189+4546G>C chr2.hg19:g.38825033C>G NA Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5 hg19 0.02 -0.149125 CATxTTG COVERED NOVEL HNRNPLL-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000219887.2 2 3.009843 KEEP 1 0 0 10 361 CC 0.992708 0.289872 0 - 3 60 89 0 0 6.979222 13 60 443 38 ENST00000449105.3 0.1875 0.292001 HNRNPLL 92906 __UNKNOWN__ __UNKNOWN__ 2 38825092 38825092 __UNKNOWN__ Intron SNP T T G rs185134145 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:38825092T>G ENST00000449105.3 - 1 529 HNRNPLL_ENST00000409636.1_Intron|HNRNPLL_ENST00000608859.1_Intron|HNRNPLL_ENST00000409328.1_Intron|HNRNPLL_ENST00000410076.1_Intron|HNRNPLL_ENST00000498516.1_Intron|HNRNPLL_ENST00000358367.4_Intron|HNRNPLL_ENST00000378915.3_Intron Q8WVV9 HNRLL_HUMAN heterogeneous nuclear ribonucleoprotein L-like NA NA mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120) membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) NA gcctcccaaattgctgggatt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008217 CCDS46261.1, CCDS1796.2 2p22 2014-02-10 2013-06-12 ENSG00000143889 ENSG00000143889 92906 RNA binding motif (RRM) containing 25127 protein-coding gene gene with protein product 611208 HNRPLL NA 18669861 Standard NM_138394 NM_138394 NA Approved uc021vgc.1 Q8WVV9 OTTHUMG00000102075 ENST00000449105.3:c.189+4487A>C chr2.hg19:g.38825092T>G NA Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5 hg19 0.02 -0.166626 AAAxTGC COVERED NOVEL HNRNPLL-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000219887.2 4 2.707223 KEEP 1 0 0 9 278 TT 0.99254 0.384517 0 - 3 40 88 0 0 6.71185 15 60 439 40 ENST00000449105.3 0.166667 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 38889363 38889363 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:38889363A>G NA NA HNRNPLL (58635 upstream) : GALM (3688 downstream) NA NA NA gattacaggcatgagccactg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.38889363A>G NA hg19 0.02 -0.359508 GGCxTGA UNCOVERED NOVEL 0 19 3.309645 KEEP 11 0 0 11 336 AA 0 0 0 3 40 103 0 0 7.211772 34 60 957 76 0.081081 0.888875 GALM 130589 __UNKNOWN__ __UNKNOWN__ 2 38902972 38902972 __UNKNOWN__ Intron SNP T T A rs536654534 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:38902972T>A ENST00000272252.5 + 2 442 GALM_ENST00000410063.1_Intron NM_138801.2 NP_620156.1 Q96C23 GALM_HUMAN galactose mutarotase (aldose 1-epimerase) NA NA galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(82;0.248) cggcctcccatagtgctggga 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1797.1 2p22.3 2008-02-05 ENSG00000143891 ENSG00000143891 130589 24063 protein-coding gene gene with protein product aldose 1 epimerase 608883 NA 12753898 Standard NM_138801 NM_138801 NA Approved uc002rqy.3 Q96C23 OTTHUMG00000102077 ENST00000272252.5:c.191-82T>A chr2.hg19:g.38902972T>A NA Q53RY1|Q8NIA2|V9HWA8 hg19 CCDS1797.1 0.02 -0.368278 CCAxAGT COVERED NOVEL GALM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219891.2 2 5.415515 KEEP 2 0 0 18 537 TT 0.999859 0.899187 0 + 5 60 134 0 0 9.42886 32 60 890 82 ENST00000272252.5 0.135135 0.899314 DHX57 90957 __UNKNOWN__ __UNKNOWN__ 2 39040704 39040704 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:39040704T>C ENST00000295373.6 - 21 3808 NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 NA NA ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) ttagtagagatggggtttcac 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(191;1090 2095 4375 23729 47341) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF070590 CCDS1800.1 2p22.3 2008-02-05 ENSG00000163214 ENSG00000163214 90957 DEAH-boxes 20086 protein-coding gene gene with protein product NA Standard NM_145646 NM_198963 NA Approved DDX57 uc002rrf.3 Q6P158 OTTHUMG00000102103 ENST00000295373.6:c.3681+258A>G chr2.hg19:g.39040704T>C NA A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33 hg19 CCDS1800.1 0.02 -0.210186 AGAxGGG UNCOVERED NOVEL DHX57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219940.2 3 2.705965 KEEP 6 0 0 9 248 TT 0 0 0 - 4 30 125 0 0 9.798074 19 60 495 42 ENST00000295373.6 0.173913 0.522161 DHX57 90957 __UNKNOWN__ __UNKNOWN__ 2 39066097 39066097 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:39066097A>G ENST00000295373.6 - 13 2552 NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 NA NA ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) tttttgagacagagtcttgct 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(191;1090 2095 4375 23729 47341) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF070590 CCDS1800.1 2p22.3 2008-02-05 ENSG00000163214 ENSG00000163214 90957 DEAH-boxes 20086 protein-coding gene gene with protein product NA Standard NM_145646 NM_198963 NA Approved DDX57 uc002rrf.3 Q6P158 OTTHUMG00000102103 ENST00000295373.6:c.2426-1008T>C chr2.hg19:g.39066097A>G NA A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33 hg19 CCDS1800.1 0.02 -0.306953 GACxGAG COVERED NOVEL DHX57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219940.2 3 4.212174 KEEP 1 0 0 14 422 AA 0.995343 0.796519 0 - 3 60 97 0 0 6.898124 27 60 785 56 ENST00000295373.6 0.1 0.800245 SLC8A1 6546 __UNKNOWN__ __UNKNOWN__ 2 40560321 40560321 __UNKNOWN__ Intron SNP A A G rs189318941 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:40560321A>G ENST00000403092.1 - 2 1842 SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000405901.3_Intron|SLC8A1_ENST00000332839.4_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000542756.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000402441.1_Intron P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 NA NA blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829) basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) gctcacgcctataatcccagc 0.463 NA A||| 4 0.000798722 0 0.0014 5008 , , NA 16640 0.001 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1 2p22.1 2013-07-15 ENSG00000183023 ENSG00000183023 6546 Solute carriers 11068 protein-coding gene gene with protein product Na+/Ca++ exchanger 182305 NCX1 NA 1559714 Standard NM_021097 NM_021097 NA Approved uc002rrx.3 P32418 OTTHUMG00000102183 ENST00000403092.1:c.1808+95291T>C chr2.hg19:g.40560321A>G NA A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6 hg19 CCDS1806.1 0.02 -0.18415 CCTxTAA COVERED NOVEL SLC8A1-010 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326065.1 8 3.610942 KEEP 0 0 0 12 372 AA 0.993634 0.420782 0 - 3 60 91 0 0 6.934215 16 60 451 47 ENST00000403092.1 0.157895 0.423478 EML4 27436 __UNKNOWN__ __UNKNOWN__ 2 42402204 42402204 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:42402204A>G ENST00000318522.5 + 1 287 EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Intron|EML4_ENST00000482660.1_Intron NM_019063.3 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 NA NA microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026) cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 tgatccacccaccttggcctc 0.512 NA T ALK NSCLC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 2 2p21 27436 echinoderm microtubule associated protein like 4 E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF177377 CCDS1807.1, CCDS46266.1 2p21 2013-01-10 2002-02-15 ENSG00000143924 ENSG00000143924 27436 WD repeat domain containing 1316 protein-coding gene gene with protein product 607442 C2orf2 NA Standard NM_019063 NM_019063 NA Approved ROPP120, ELP120 uc002rsi.3 Q9HC35 OTTHUMG00000128603 ENST00000318522.5:c.25+5428A>G chr2.hg19:g.42402204A>G NA A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40 hg19 CCDS1807.1 0.02 -0.359496 CCCxCCT COVERED NOVEL EML4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250463.3 3 2.407296 KEEP 0 0 0 8 253 AA 0.99257 0.882271 0 + 3 60 108 0 0 7.786953 32 60 922 71 ENST00000318522.5 0.085714 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 43117750 43117750 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:43117750G>A NA NA HAAO (98018 upstream) : AC016735.1 (110744 downstream) NA NA NA ccctccctaagctgctcctaa 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.43117750G>A NA hg19 0.02 -0.263151 TAAxCTG COVERED NOVEL 0 2 2.708979 KEEP 0 0 0 9 334 GG 0.99254 0.688494 0 4 60 107 0 0 7.497568 26 60 896 55 0.133333 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 43194474 43194474 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:43194474T>C NA NA HAAO (174742 upstream) : AC016735.1 (34020 downstream) NA NA NA tgagaccagcttgggcaacat 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.43194474T>C NA hg19 0.02 -0.228014 AGCxTGG COVERED NOVEL 0 5 3.310098 KEEP 0 0 0 11 345 TT 0.993072 0.578892 0 3 60 103 0 0 7.992218 18 60 523 52 0.142857 0.58293 THADA 63892 __UNKNOWN__ __UNKNOWN__ 2 43489044 43489044 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:43489044A>G ENST00000405006.4 - 36 5648 THADA_ENST00000405975.2_Intron|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Intron NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated NA NA breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ccaaagtgctaggattacagg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY149629 CCDS46268.1, CCDS62901.1, CCDS62902.1 2p21 2008-02-05 ENSG00000115970 ENSG00000115970 63892 19217 protein-coding gene gene with protein product 611800 NA 12063398, 11214970 Standard NM_022065 NM_022065 NA Approved FLJ21877, KIAA1767, GITA uc002rsx.4 Q6YHU6 OTTHUMG00000152398 ENST00000405006.4:c.5296+17859T>C chr2.hg19:g.43489044A>G NA A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7 hg19 CCDS46268.1 0.02 -0.219237 GCTxGGA COVERED NOVEL THADA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326070.3 4 3.309441 KEEP 0 0 0 11 332 AA 0.993072 0.549057 0 - 3 60 108 0 0 8.426893 19 60 551 51 ENST00000405006.4 0.136364 0.552887 THADA 63892 __UNKNOWN__ __UNKNOWN__ 2 43570212 43570212 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:43570212T>G ENST00000405006.4 - 30 4695 THADA_ENST00000405975.2_Intron|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Intron NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated NA NA breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) tgtcacccagtctggagtgca 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY149629 CCDS46268.1, CCDS62901.1, CCDS62902.1 2p21 2008-02-05 ENSG00000115970 ENSG00000115970 63892 19217 protein-coding gene gene with protein product 611800 NA 12063398, 11214970 Standard NM_022065 NM_022065 NA Approved FLJ21877, KIAA1767, GITA uc002rsx.4 Q6YHU6 OTTHUMG00000152398 ENST00000405006.4:c.4343+1048A>C chr2.hg19:g.43570212T>G NA A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7 hg19 CCDS46268.1 0.02 -0.087705 CAGxCTG UNCOVERED NOVEL THADA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326070.3 5 2.707957 KEEP 0 0 0 9 275 TT 0.99254 0.098977 0 - 3 60 98 0 0 8.743896 6 60 171 23 ENST00000405006.4 0.333333 0.099721 THADA 63892 __UNKNOWN__ __UNKNOWN__ 2 43660865 43660865 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:43660865T>C ENST00000405006.4 - 27 4188 THADA_ENST00000405975.2_Intron|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Intron|THADA_ENST00000485353.1_Intron NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated NA NA breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) cttgctctgttgcccaggctg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY149629 CCDS46268.1, CCDS62901.1, CCDS62902.1 2p21 2008-02-05 ENSG00000115970 ENSG00000115970 63892 19217 protein-coding gene gene with protein product 611800 NA 12063398, 11214970 Standard NM_022065 NM_022065 NA Approved FLJ21877, KIAA1767, GITA uc002rsx.4 Q6YHU6 OTTHUMG00000152398 ENST00000405006.4:c.3837-3424A>G chr2.hg19:g.43660865T>C NA A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7 hg19 CCDS46268.1 0.02 -0.377139 TGTxGCC COVERED NOVEL THADA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326070.3 7 7.221422 KEEP 1 0 0 24 754 TT 0.999909 0.908987 0 - 3 60 97 0 0 6.612383 34 60 1014 78 ENST00000405006.4 0.081081 0.909069 PLEKHH2 130271 __UNKNOWN__ __UNKNOWN__ 2 43913374 43913374 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:43913374C>T ENST00000282406.4 + 4 296 NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 NA NA negative regulation of actin filament depolymerization (GO:0030835) cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) actin binding (GO:0003779) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) cttgctctgtcgcccaggctg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB095948 CCDS1812.1 2p22 2013-01-10 ENSG00000152527 ENSG00000152527 130271 Pleckstrin homology (PH) domain containing 30506 protein-coding gene gene with protein product 612723 NA Standard NM_172069 NM_172069 NA Approved KIAA2028, PLEKHH1L uc010yny.2 Q8IVE3 OTTHUMG00000128657 ENST00000282406.4:c.187-6279C>T chr2.hg19:g.43913374C>T NA Q5JPJ6|Q6P4Q1|Q8N3Q3 hg19 CCDS1812.1 0.02 -0.20963 TGTxGCC COVERED NOVEL PLEKHH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250537.1 4 2.975177 KEEP 0 0 0 10 321 CC 0.992708 0.518353 0 + 3 60 89 0 0 6.600025 18 60 521 45 ENST00000282406.4 0.142857 0.522161 PLEKHH2 130271 __UNKNOWN__ __UNKNOWN__ 2 43994011 43994011 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:43994011G>A ENST00000282406.4 + 0 5866 NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 NA NA negative regulation of actin filament depolymerization (GO:0030835) cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) actin binding (GO:0003779) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) tgctgggattgcaggcatgag 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB095948 CCDS1812.1 2p22 2013-01-10 ENSG00000152527 ENSG00000152527 130271 Pleckstrin homology (PH) domain containing 30506 protein-coding gene gene with protein product 612723 NA Standard NM_172069 NM_172069 NA Approved KIAA2028, PLEKHH1L uc010yny.2 Q8IVE3 OTTHUMG00000128657 ENST00000282406.4:c.*1274G>A chr2.hg19:g.43994011G>A NA Q5JPJ6|Q6P4Q1|Q8N3Q3 hg19 CCDS1812.1 0.02 -0.315748 ATTxCAG COVERED NOVEL PLEKHH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250537.1 11 2.578248 KEEP 0 2 64 31 1098 GG 0.999998 0.818463 0 + 4 60 104 0 0 7.080488 28 60 960 89 ENST00000282406.4 0.125 0.818465 PLEKHH2 130271 __UNKNOWN__ __UNKNOWN__ 2 43994017 43994017 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:43994017A>G ENST00000282406.4 + 0 5872 NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 NA NA negative regulation of actin filament depolymerization (GO:0030835) cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) actin binding (GO:0003779) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) gattgcaggcatgagccaccg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB095948 CCDS1812.1 2p22 2013-01-10 ENSG00000152527 ENSG00000152527 130271 Pleckstrin homology (PH) domain containing 30506 protein-coding gene gene with protein product 612723 NA Standard NM_172069 NM_172069 NA Approved KIAA2028, PLEKHH1L uc010yny.2 Q8IVE3 OTTHUMG00000128657 ENST00000282406.4:c.*1280A>G chr2.hg19:g.43994017A>G NA Q5JPJ6|Q6P4Q1|Q8N3Q3 hg19 CCDS1812.1 0.02 -0.324502 GGCxTGA COVERED NOVEL PLEKHH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250537.1 12 6.251937 KEEP 0 1 38 34 1019 AA 0.999999 0.835715 0 + 3 60 101 0 0 7.126614 31 60 915 91 ENST00000282406.4 0.088235 0.835716 DYNC2LI1 51626 __UNKNOWN__ __UNKNOWN__ 2 44020424 44020424 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:44020424G>C ENST00000398823.2 + 0 1005 DYNC2LI1_ENST00000260605.8_Intron|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000406852.3_Intron|DYNC2LI1_ENST00000605786.1_Intron|DYNC2LI1_ENST00000489222.2_Intron Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368) apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372) motor activity (GO:0003774) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) accagcctgggcaacatggtg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1813.1, CCDS46270.1, CCDS62903.1 2p25.1-p24.1 2008-02-05 ENSG00000138036 ENSG00000138036 51626 Cytoplasmic dyneins 24595 protein-coding gene gene with protein product NA 10810093, 11907264 Standard NM_016008 NM_016008 NA Approved D2LIC, LIC3, CGI-60, DKFZP564A033 uc002rtl.3 Q8TCX1 OTTHUMG00000128656 ENST00000398823.2:c.*495G>C chr2.hg19:g.44020424G>C NA A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9 hg19 0.02 -0.219298 TGGxCAA COVERED NOVEL DYNC2LI1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000326194.1 5 8.972762 KEEP 1 0 0 30 963 GG 0.999997 0.552886 0 + 3 60 92 0 0 6.892377 18 60 606 60 ENST00000398823.2 0.142857 0.552887 LRPPRC 10128 __UNKNOWN__ __UNKNOWN__ 2 44117581 44117581 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:44117581A>G ENST00000260665.7 - 37 4043 NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing NA NA mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529) beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ggccgggcgcagtggctcacg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M92439 CCDS33189.1 2p21 2012-02-24 2012-02-24 ENSG00000138095 ENSG00000138095 10128 15714 protein-coding gene gene with protein product 607544 Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency) LSFC NA 8012652, 8619474, 22045337 Standard NM_133259 NM_133259 NA Approved GP130, LRP130 uc002rtr.2 P42704 OTTHUMG00000152782 ENST00000260665.7:c.3986-566T>C chr2.hg19:g.44117581A>G NA A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84 hg19 CCDS33189.1 0.02 -0.324499 CGCxGTG COVERED NOVEL LRPPRC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327823.1 6 3.309429 KEEP 0 0 0 11 337 AA 0.993072 0.829926 0 - 3 60 95 0 0 6.52741 31 60 929 57 ENST00000260665.7 0.088235 0.835716 PPM1B 5495 __UNKNOWN__ __UNKNOWN__ 2 44461651 44461651 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:44461651C>T ENST00000378551.2 + 0 3743 PPM1B_ENST00000378540.4_Intron NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B NA NA cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470) cytosol (GO:0005829)|membrane (GO:0016020) magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722) kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) agcgagactccgtctcaaaaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ005801 CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1 2p22.1 2012-04-17 2010-03-05 ENSG00000138032 ENSG00000138032 5495 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 9276 protein-coding gene gene with protein product protein phosphatase 2C, beta isoform 603770 protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform NA 9684878 Standard NM_002706 NM_002706 NA Approved PPC2BETAX, PP2CB, PP2CBETA uc002rtt.3 O75688 OTTHUMG00000128757 ENST00000378551.2:c.*2167C>T chr2.hg19:g.44461651C>T NA Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8 hg19 CCDS1816.1 0.02 1.321978 CTCxGTC COVERED NOVEL PPM1B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250673.2 5 5.340242 KEEP 3 1 32 29 1007 CC 0.999997 0.9937 0 + 4 60 123 1 1 8.020898 50 60 1685 109 ENST00000378551.2 0.074074 0.993703 SLC3A1 6519 __UNKNOWN__ __UNKNOWN__ 2 44542265 44542265 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:44542265G>A ENST00000409387.1 + 9 1689 SLC3A1_ENST00000409229.3_3'UTR|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409380.1_Intron|SLC3A1_ENST00000409740.3_Intron Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 NA NA amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774) amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) tatttttagtggagacggggt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1819.1 2p16.3 2013-07-19 2013-07-19 ENSG00000138079 ENSG00000138079 6519 Solute carriers 11025 protein-coding gene gene with protein product 104614 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 NA 8486766, 9186880 Standard NM_000341 NM_000341 NA Approved CSNU1, D2H, RBAT, ATR1, NBAT uc002ruc.4 Q07837 OTTHUMG00000128759 ENST00000409387.1:c.1617+1175G>A chr2.hg19:g.44542265G>A NA A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94 hg19 0.02 -0.350845 AGTxGAG COVERED NOVEL SLC3A1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000327835.1 6 3.912087 KEEP 2 0 0 13 433 GG 0.994391 0.872784 0 + 5 60 128 0 0 8.768727 33 60 1105 59 ENST00000409387.1 0.131579 0.877708 SLC3A1 6519 __UNKNOWN__ __UNKNOWN__ 2 44542348 44542348 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:44542348T>C ENST00000409387.1 + 9 1689 SLC3A1_ENST00000409229.3_3'UTR|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409380.1_Intron|SLC3A1_ENST00000409740.3_Intron Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 NA NA amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774) amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) tcccaaagtgttgggattaca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1819.1 2p16.3 2013-07-19 2013-07-19 ENSG00000138079 ENSG00000138079 6519 Solute carriers 11025 protein-coding gene gene with protein product 104614 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 NA 8486766, 9186880 Standard NM_000341 NM_000341 NA Approved CSNU1, D2H, RBAT, ATR1, NBAT uc002ruc.4 Q07837 OTTHUMG00000128759 ENST00000409387.1:c.1617+1258T>C chr2.hg19:g.44542348T>C NA A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94 hg19 0.02 3.540618 GTGxTGG COVERED NOVEL SLC3A1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000327835.1 24 4.842777 KEEP 2 1 37 29 902 TT 0.999997 0.999997 0 + 7 60 244 0 0 15.860353 125 60 3677 265 ENST00000409387.1 0.05303 1 CAMKMT 79823 __UNKNOWN__ __UNKNOWN__ 2 44695830 44695830 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:44695830A>G ENST00000378494.3 + 3 420 CAMKMT_ENST00000402247.1_Intron|CAMKMT_ENST00000407131.1_Intron NM_024766.4 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase NA NA Golgi apparatus (GO:0005794)|nucleus (GO:0005634) calmodulin-lysine N-methyltransferase activity (GO:0018025) breast(2)|large_intestine(3)|lung(5) 10 ggctgaggagagaggattgtt 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1820.1 2p21 2011-06-22 2011-03-10 2011-03-10 ENSG00000143919 ENSG00000143919 79823 2.1.1.60 26276 protein-coding gene gene with protein product CaM KMT 609559 chromosome 2 open reading frame 34 C2orf34 NA 20975703 Standard NM_024766 NM_024766 NA Approved CLNMT uc002rum.3 Q7Z624 OTTHUMG00000128761 ENST00000378494.3:c.376+78386A>G chr2.hg19:g.44695830A>G NA Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8 hg19 CCDS1820.1 0.02 -0.306984 GAGxGAG COVERED NOVEL CAMKMT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250678.2 13 2.40745 KEEP 0 0 0 8 255 AA 0.99257 0.7943 0 + 3 60 93 0 0 6.411776 29 60 884 60 ENST00000378494.3 0.09375 0.800245 PRKCE 5581 __UNKNOWN__ __UNKNOWN__ 2 46228414 46228414 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:46228414C>T ENST00000394874.1 + 2 101 PRKCE_ENST00000306156.3_Intron Q02156 KPCE_HUMAN protein kinase C, epsilon NA NA activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669) cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871) MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) Tamoxifen(DB00675) atatatatttctgtattttcc 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1824.1 2p21 2009-07-10 ENSG00000171132 ENSG00000171132 5581 2.7.11.1 9401 protein-coding gene gene with protein product 176975 NA 1382605, 7877991 Standard NM_005400 NA Approved uc002rut.3 Q02156 OTTHUMG00000128817 ENST00000394874.1:c.-8-129C>T chr2.hg19:g.46228414C>T NA B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81 hg19 0.02 -0.306549 TTTxTGT COVERED NOVEL PRKCE-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000258149.1 0 11.133768 KEEP 0 0 0 37 1167 CC 1 0.800245 0 + 4 60 101 0 0 6.618069 31 60 944 76 ENST00000394874.1 0.114286 0.800245 RP11-761B3.1 0 __UNKNOWN__ __UNKNOWN__ 2 47344607 47344607 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:47344607T>C ENST00000422269.1 - 7 681 C2orf61_ENST00000445927.2_Intron NA NA NA ctcggcctcctaaagtgctgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000422269.1:c.128+3544A>G chr2.hg19:g.47344607T>C NA hg19 0.02 -0.18418 TCCxAAA COVERED NOVEL RP11-761B3.1-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000471753.1 10 3.009258 KEEP 0 0 0 10 319 TT 0.992708 0.42039 0 - 3 60 104 0 0 8.092082 18 60 524 42 ENST00000422269.1 0.142857 0.423478 AC073283.4 0 __UNKNOWN__ __UNKNOWN__ 2 47542849 47542849 __UNKNOWN__ lincRNA SNP G G A rs546048122 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:47542849G>A ENST00000419035.1 - 0 66 NA NA p.0?(2)|p.?(1) NA ctgtaatcccggcactttggg 0.438 NA A||| 2 0.000399361 0.0015 0 5008 , , NA 17249 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 3 Whole gene deletion(2)|Unknown(1) haematopoietic_and_lymphoid_tissue(3) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000419035.1: chr2.hg19:g.47542849G>A NA hg19 0.02 -0.078942 CCCxGCA UNCOVERED NOVEL AC073283.4-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000323519.1 1 2.401878 KEEP 0 0 0 8 255 GG 0.99257 0.076761 0 - 3 60 87 0 0 7.832151 5 60 166 30 ENST00000419035.1 0.375 0.077336 MSH6 2956 __UNKNOWN__ __UNKNOWN__ 2 48022990 48022990 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:48022990T>A ENST00000234420.5 + 3 609 FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 NA NA ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983) p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ggcgtgagcctctgcacccgg 0.443 NA Mis, N, F, S colorectal colorectal, endometrial, ovarian Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes Hereditary non-polyposis colorectal cancer 2 2p16 2956 mutS homolog 6 (E. coli) E 2 Whole gene deletion(2) haematopoietic_and_lymphoid_tissue(2) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III U54777 CCDS1836.1, CCDS62906.1, CCDS62907.1 2p16 2014-09-17 2013-09-12 ENSG00000116062 ENSG00000116062 2956 7329 protein-coding gene gene with protein product 600678 mutS (E. coli) homolog 6, mutS homolog 6 (E. coli) GTBP NA 7604266 Standard NM_000179 NM_000179 NA Approved uc002rwd.4 P52701 OTTHUMG00000129129 ENST00000234420.5:c.458-43T>A chr2.hg19:g.48022990T>A NA B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5 hg19 CCDS1836.1 0.02 1.216882 GCCxCTG COVERED NOVEL MSH6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251180.4 7 4.645649 KEEP 0 1 27 25 772 TT 0.999957 0.998824 0 + 6 60 178 0 0 11.781354 64 60 1892 137 ENST00000234420.5 0.085714 0.998867 PPP1R21 129285 __UNKNOWN__ __UNKNOWN__ 2 48742385 48742385 __UNKNOWN__ 3'UTR SNP C C T rs375892360 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:48742385C>T ENST00000294952.8 + 0 3002 PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000281394.4_3'UTR NM_001135629.2 NP_001129101.1 Q6ZMI0 PPR21_HUMAN protein phosphatase 1, regulatory subunit 21 NA NA membrane (GO:0016020) phosphatase binding (GO:0019902) endometrium(2)|kidney(4)|lung(9) 15 ctctctctctcttctttctct 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY134855 CCDS1839.1, CCDS46278.1, CCDS54358.1 2p16.3 2012-04-17 2011-10-11 2011-10-11 ENSG00000162869 ENSG00000162869 129285 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 30595 protein-coding gene gene with protein product coiled-coil domain containing 128, KLRAQ motif containing 1 CCDC128, KLRAQ1 NA 12477932 Standard NM_152994 NM_001135629 NA Approved FLJ16566 uc002rwm.3 Q6ZMI0 OTTHUMG00000129167 ENST00000294952.8:c.*502C>T chr2.hg19:g.48742385C>T NA B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8 hg19 CCDS46278.1 0.02 -0.37667 TCTxTTC COVERED NOVEL PPP1R21-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251238.4 9 5.936647 KEEP 1 1 11 24 778 CC 0.999931 0.909006 0 + 20 60 577 1 2 54.632611 22 70 671 107 ENST00000294952.8 0.47619 0.909069 STON1-GTF2A1L 286749 __UNKNOWN__ __UNKNOWN__ 2 48869741 48869741 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:48869741T>C ENST00000394754.1 + 6 2529 STON1-GTF2A1L_ENST00000405008.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000309827.2_Intron|GTF2A1L_ENST00000403751.3_Intron|GTF2A1L_ENST00000468326.1_Intron|GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Intron|LHCGR_ENST00000420913.3_Intron NM_172311.2 NP_758515.1 STON1-GTF2A1L readthrough NA NA NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) cgcctgtaattccagcacttt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF026169 CCDS1840.1, CCDS56118.1, CCDS56119.1 2p16.3 2009-09-17 ENSG00000068781 ENSG00000068781 286749 30651 other readthrough stoned B/TFIIA alpha/beta like factor NA 10364255, 11159353 Standard NM_172311 NA Approved SALF uc010yol.2 OTTHUMG00000152037 ENST00000394754.1:c.2415+145T>C chr2.hg19:g.48869741T>C NA hg19 CCDS1840.1 0.02 -0.263124 AATxCCA COVERED NOVEL STON1-GTF2A1L-002 KNOWN alternative_5_UTR|basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000251241.1 4 3.310586 KEEP 0 0 0 11 369 TT 0.993072 0.688863 0 + 3 60 92 0 0 6.543498 24 60 723 54 ENST00000394754.1 0.111111 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 53506268 53506268 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:53506268A>G NA NA AC010967.2 (369110 upstream) : SCARNA16 (191316 downstream) NA NA NA ggtggctcacacctgtaatcc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.53506268A>G NA hg19 0.02 -0.149112 CACxCCT COVERED NOVEL 0 5 2.708172 KEEP 0 0 0 9 281 AA 0.99254 0.289823 0 4 60 131 0 0 11.231224 11 60 330 33 0.266667 0.292001 GPR75-ASB3 100302652 __UNKNOWN__ __UNKNOWN__ 2 53898851 53898851 __UNKNOWN__ Intron SNP A A G rs386646206|rs558984794 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:53898851A>G ENST00000263634.3 - 10 1504 ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000482829.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000406687.1_Intron NM_016115.4 NP_057199.1 GPR75-ASB3 readthrough NA NA NA agccgagatcatgccactgca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54361.1 2p16 2013-01-23 ENSG00000115239 ENSG00000115239 100302652 40043 other readthrough NA Standard NM_001164165 NA Approved OTTHUMG00000129279 ENST00000263634.3:c.1370-1024T>C chr2.hg19:g.53898851A>G NA hg19 CCDS1846.1 0.02 -0.280618 ATCxTGC COVERED NOVEL GPR75-ASB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251402.3 12 2.707107 KEEP 0 0 0 9 264 AA 0.99254 0.734154 0 - 3 57 101 0 0 7.392601 25 60 712 57 ENST00000263634.3 0.107143 0.739671 GPR75-ASB3 100302652 __UNKNOWN__ __UNKNOWN__ 2 53909061 53909061 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:53909061G>C ENST00000263634.3 - 10 1504 ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000482829.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000406687.1_Intron NM_016115.4 NP_057199.1 GPR75-ASB3 readthrough NA NA NA ctttgggagggtgaggtgggt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54361.1 2p16 2013-01-23 ENSG00000115239 ENSG00000115239 100302652 40043 other readthrough NA Standard NM_001164165 NA Approved OTTHUMG00000129279 ENST00000263634.3:c.1370-11234C>G chr2.hg19:g.53909061G>C NA hg19 CCDS1846.1 0.02 -0.192985 AGGxTGA COVERED NOVEL GPR75-ASB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251402.3 5 2.708379 KEEP 0 0 0 9 310 GG 0.99254 0.454342 0 - 5 60 159 0 0 13.530078 14 60 476 41 ENST00000263634.3 0.263158 0.457757 ACYP2 98 __UNKNOWN__ __UNKNOWN__ 2 54369617 54369617 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:54369617C>T ENST00000394666.3 + 3 380 ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000406041.1_3'UTR NM_138448.3 NP_612457.1 P14621 ACYP2_HUMAN acylphosphatase 2, muscle type NA NA phosphate-containing compound metabolic process (GO:0006796) mitochondrion (GO:0005739) acylphosphatase activity (GO:0003998) lung(1) 1 cccagcacttcgggaggctga 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X84195 CCDS1850.1 2p16.2 2008-02-05 ENSG00000170634 ENSG00000170634 98 3.6.1.7 180 protein-coding gene gene with protein product 102595 NA 8268218 Standard NM_138448 NA Approved uc002rxq.4 P14621 OTTHUMG00000129287 ENST00000394666.3:c.185+3732C>T chr2.hg19:g.54369617C>T NA hg19 CCDS1850.1 0.02 5.854742 CTTxGGG COVERED NOVEL ACYP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251415.3 26 11.702809 KEEP 4 2 54 58 1923 CC 1 1 0 + 17 60 444 1 0 27.560958 177 60 5614 382 ENST00000394666.3 0.087629 1 ACYP2 98 __UNKNOWN__ __UNKNOWN__ 2 54369767 54369767 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:54369767A>G ENST00000394666.3 + 3 380 ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000406041.1_3'UTR NM_138448.3 NP_612457.1 P14621 ACYP2_HUMAN acylphosphatase 2, muscle type NA NA phosphate-containing compound metabolic process (GO:0006796) mitochondrion (GO:0005739) acylphosphatase activity (GO:0003998) lung(1) 1 ggctgaggcaagagaatcgct 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X84195 CCDS1850.1 2p16.2 2008-02-05 ENSG00000170634 ENSG00000170634 98 3.6.1.7 180 protein-coding gene gene with protein product 102595 NA 8268218 Standard NM_138448 NA Approved uc002rxq.4 P14621 OTTHUMG00000129287 ENST00000394666.3:c.185+3882A>G chr2.hg19:g.54369767A>G NA hg19 CCDS1850.1 0.02 4.003328 GCAxGAG COVERED NOVEL ACYP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251415.3 9 5.951888 KEEP 0 1 32 31 962 AA 0.999997 0.999992 0 + 8 60 268 0 0 18.275679 99 60 2818 166 ENST00000394666.3 0.074766 0.999995 SPTBN1 6711 __UNKNOWN__ __UNKNOWN__ 2 54775020 54775020 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:54775020A>G ENST00000356805.4 + 2 429 NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 NA NA actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661) axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) ggtggctcacacctgtaatcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33198.1, CCDS33199.1 2p21 2013-01-10 ENSG00000115306 ENSG00000115306 6711 Pleckstrin homology (PH) domain containing 11275 protein-coding gene gene with protein product 182790 NA Standard NM_003128 NA Approved uc002rxu.3 Q01082 OTTHUMG00000133746 ENST00000356805.4:c.148+21317A>G chr2.hg19:g.54775020A>G NA B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99 hg19 CCDS33198.1 0.02 -0.306948 CACxCCT COVERED NOVEL SPTBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258115.3 7 2.407266 KEEP 2 0 0 8 247 AA 0.99257 0.7943 0 + 3 60 104 0 0 7.509069 29 60 853 66 ENST00000356805.4 0.09375 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 54933602 54933602 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:54933602T>C NA NA SPTBN1 (36790 upstream) : EML6 (18076 downstream) NA NA NA ggattataggtgtgagccacc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.54933602T>C NA hg19 0.02 -0.280661 AGGxGTG COVERED NOVEL 0 11 2.70838 KEEP 0 0 0 9 286 TT 0.99254 0.734154 0 4 60 136 0 0 10.457239 25 60 748 61 0.137931 0.739671 RTN4 57142 __UNKNOWN__ __UNKNOWN__ 2 55201703 55201703 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:55201703T>C ENST00000394609.2 - 4 780 RTN4_ENST00000394611.2_Intron|RTN4_ENST00000357376.3_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000486085.1_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000337526.6_Intron|RTN4_ENST00000405240.1_Intron|RTN4_ENST00000317610.7_Intron NM_007008.2 NP_008939.1 Q9NQC3 RTN4_HUMAN reticulon 4 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822) NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 aggcatgagctaccgcgcccg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF087901 CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1 2p14-p13 2008-05-23 ENSG00000115310 ENSG00000115310 57142 14085 protein-coding gene gene with protein product 604475 NA 10667797, 10773680 Standard NM_020532 NA Approved NSP-CL, KIAA0886, NOGO, ASY uc002rye.3 Q9NQC3 OTTHUMG00000129337 ENST00000394609.2:c.451+127A>G chr2.hg19:g.55201703T>C NA O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6 hg19 CCDS42685.1 0.02 5.491499 AGCxACC COVERED NOVEL RTN4-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326317.1 22 10.268631 KEEP 0 4 140 83 2535 TT 1 1 0 - 6 60 211 0 0 12.637705 168 60 4682 377 ENST00000394609.2 0.034483 1 RTN4 57142 __UNKNOWN__ __UNKNOWN__ 2 55238422 55238422 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:55238422T>C ENST00000337526.6 - 3 3257 RTN4_ENST00000394611.2_Intron|RTN4_ENST00000357376.3_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000405240.1_Intron|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822) NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 ctcagcctcctaaagtgcggg 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF087901 CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1 2p14-p13 2008-05-23 ENSG00000115310 ENSG00000115310 57142 14085 protein-coding gene gene with protein product 604475 NA 10667797, 10773680 Standard NM_020532 NA Approved NSP-CL, KIAA0886, NOGO, ASY uc002rye.3 Q9NQC3 OTTHUMG00000129337 ENST00000337526.6:c.3013+13799A>G chr2.hg19:g.55238422T>C NA O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6 hg19 CCDS42684.1 0.02 -0.306965 TCCxAAA COVERED NOVEL RTN4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000251484.1 8 2.407188 KEEP 0 0 0 8 248 TT 0.99257 0.7943 0 - 3 60 97 0 0 6.853899 28 60 824 66 ENST00000337526.6 0.096774 0.800245 RTN4 57142 __UNKNOWN__ __UNKNOWN__ 2 55271133 55271133 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:55271133C>A ENST00000337526.6 - 1 800 RTN4_ENST00000394611.2_Intron|RTN4_ENST00000357376.3_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000405240.1_Intron|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822) NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 ggaatttgagcccagcctggg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF087901 CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1 2p14-p13 2008-05-23 ENSG00000115310 ENSG00000115310 57142 14085 protein-coding gene gene with protein product 604475 NA 10667797, 10773680 Standard NM_020532 NA Approved NSP-CL, KIAA0886, NOGO, ASY uc002rye.3 Q9NQC3 OTTHUMG00000129337 ENST00000337526.6:c.556+5747G>T chr2.hg19:g.55271133C>A NA O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6 hg19 CCDS42684.1 0.02 -0.18421 GAGxCCA COVERED NOVEL RTN4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000251484.1 8 2.408012 KEEP 0 0 0 8 298 CC 0.99257 0.420331 0 - 3 60 88 0 0 6.791999 14 60 475 38 ENST00000337526.6 0.176471 0.423478 CLHC1 130162 __UNKNOWN__ __UNKNOWN__ 2 55418561 55418561 __UNKNOWN__ Intron SNP G G A rs545022442 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:55418561G>A ENST00000401408.1 - 10 1352 CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Intron|CLHC1_ENST00000406076.1_Intron NM_152385.2 NP_689598.2 Q8NHS4 CLHC1_HUMAN clathrin heavy chain linker domain containing 1 NA NA NA tagtagagacggggtttcacc 0.517 NA G||| 1 0.000199681 8e-04 0 5008 , , NA 17132 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33201.1, CCDS46287.1 2p16.1 2012-08-03 2012-08-03 2012-08-03 ENSG00000162994 ENSG00000162994 130162 26453 protein-coding gene gene with protein product chromosome 2 open reading frame 63 C2orf63 NA Standard NM_152385 NM_152385 NA Approved FLJ31438 uc002ryi.2 Q8NHS4 OTTHUMG00000151918 ENST00000401408.1:c.1007-9681C>T chr2.hg19:g.55418561G>A NA B2RDV1|Q53R93|Q8N403 hg19 CCDS33201.1 0.02 -0.166618 GACxGGG COVERED NOVEL CLHC1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324412.4 4 2.4075 KEEP 1 0 0 8 266 GG 0.99257 0.351317 0 - 3 42 89 0 0 7.282282 10 60 291 32 ENST00000401408.1 0.230769 0.353947 CCDC104 0 __UNKNOWN__ __UNKNOWN__ 2 55772957 55772957 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:55772957T>C ENST00000349456.4 + 0 1990 Q96G28 CFA36_HUMAN NA NA breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) gagtttgagatcagcctgggc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000349456.4:c.*813T>C chr2.hg19:g.55772957T>C NA Q53SF0|Q53ST9|Q6UY34 hg19 CCDS1854.2 0.02 1.379842 AGAxCAG COVERED NOVEL CCDC104-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319610.2 7 11.368168 KEEP 0 1 29 48 1537 TT 1 0.999317 0 + 4 60 128 0 0 7.818144 76 60 2264 142 ENST00000349456.4 0.05 0.999317 SMEK2 57223 __UNKNOWN__ __UNKNOWN__ 2 55774873 55774873 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:55774873G>C ENST00000272313.5 - 0 4796 NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) NA NA positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289) kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) gcctggccaagatggtgaaac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037808 CCDS1855.1, CCDS46289.1, CCDS62913.1 2p16.1 2008-09-15 ENSG00000138041 57223 29267 protein-coding gene gene with protein product 610352 NA 16085932, 18614045 Standard NM_020463 NM_001122964 NA Approved PSY2, FLFL2, KIAA1387, FLJ31474 uc002rzc.3 Q5MIZ7 OTTHUMG00000129336 ENST00000272313.5:c.*2174C>G chr2.hg19:g.55774873G>C NA Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0 hg19 CCDS1855.1 0.02 1.490841 CAAxATG COVERED NOVEL SMEK2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000251482.1 7 2.939597 KEEP 1 4 126 54 1738 GG 1 0.999862 0 - 7 60 216 0 1 14.720257 71 60 2233 159 ENST00000272313.5 0.089744 0.999862 PNPT1 87178 __UNKNOWN__ __UNKNOWN__ 2 55862139 55862139 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:55862139T>C ENST00000447944.2 - 0 3671 NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 NA NA cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928) cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739) 3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654) cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) accttcccacttcagccttcc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC053660 CCDS1856.1 2p15 2013-01-08 ENSG00000138035 ENSG00000138035 87178 23166 protein-coding gene gene with protein product polynucleotide phosphorylase, 3'-5' RNA exonuclease 610316 deafness, autosomal recessive 70 DFNB70 NA 12419256 Standard NM_033109 NM_033109 NA Approved PNPase, OLD35, old-35 uc002rzf.3 Q8TCS8 OTTHUMG00000129335 ENST00000447944.2:c.*1233A>G chr2.hg19:g.55862139T>C NA Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0 hg19 CCDS1856.1 0.02 -0.263088 CACxTCA COVERED NOVEL PNPT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251481.2 2 3.008904 KEEP 0 0 0 10 311 TT 0.992708 0.68861 0 - 3 60 91 1 0 6.445261 24 60 701 51 ENST00000447944.2 0.111111 0.693668 EFEMP1 2202 __UNKNOWN__ __UNKNOWN__ 2 56098044 56098044 __UNKNOWN__ Missense_Mutation SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:56098044A>C ENST00000394555.2 - 10 1566 c.1131T>G c.(1129-1131)tgT>tgG p.C377W EFEMP1_ENST00000394554.1_Missense_Mutation_p.C377W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.C377W|EFEMP1_ENST00000424836.2_Missense_Mutation_p.C239W NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 377 EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3. NA epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006) NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTGGGCAAACACATCGGCTGC 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(92;934 1319 7714 28760 40110) NA 0 81 82 82 NA NA NA 2 NA NA 56098044 2203 4300 6503 SO:0001583 missense U03877 CCDS1857.1 2p16 2013-01-08 2011-01-25 ENSG00000115380 ENSG00000115380 2202 Fibulins 3218 protein-coding gene gene with protein product fibulin 3 601548 fibrillin-like, EGF-containing fibulin-like extracellular matrix protein 1 DHRD, FBNL NA 8812496, 7799918 Standard NM_001039348 NA Approved S1-5, FBLN3, MTLV uc002rzi.3 Q12805 OTTHUMG00000129343 ENST00000394555.2:c.1131T>G chr2.hg19:g.56098044A>C ENSP00000378058:p.Cys377Trp NA A8K3I4|B4DW75|D6W5D2|Q541U7 hg19 CCDS1857.1 0.02 3.838951 AACxCAT COVERED . . . . . . . . . . A 17.29 3.351690 0.61183 . . ENSG00000115380 ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426 D;D;D;D 0.86627 -2.15;-2.15;-1.71;-2.15 5.65 1.93 0.25924 . 0.000000 0.64402 D 0.000001 D 0.93533 0.7936 M 0.91038 3.17 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 D 0.91931 0.5555 10 0.54805 T 0.06 . 9.9416 0.41583 0.738:0.0:0.262:0.0 . 239;377 B4DW75;Q12805 .;FBLN3_HUMAN W 377;377;233;239;377 ENSP00000378058:C377W;ENSP00000378057:C377W;ENSP00000399145:C239W;ENSP00000347596:C377W ENSP00000347596:C377W C - 3 2 EFEMP1 55951548 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 2.164000 0.42387 0.148000 0.19059 0.533000 0.62120 TGT NOVEL EFEMP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251491.2 2 23.161612 KEEP 0 0 0 77 2355 AA 1 0.999989 0 - 6 60 199 0 0 12.783115 99 60 2895 266 ENST00000394555.2 0.057143 0.999989 BCL11A 53335 __UNKNOWN__ __UNKNOWN__ 2 60780670 60780670 __UNKNOWN__ 5'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:60780670T>G ENST00000359629.5 - 0 32 NM_138559.1 NP_612569.1 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) NA NA B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217) cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634) metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) agaagagagatagagggagag 0.438 NA T IGH@ B-CLL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 2 2p13 53335 B-cell CLL/lymphoma 11A L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ404611 CCDS1861.1, CCDS1862.1, CCDS46295.1 2p16.1 2013-01-08 2002-05-08 ENSG00000119866 ENSG00000119866 53335 Zinc fingers, C2H2-type 13221 protein-coding gene gene with protein product 606557 ecotropic viral integration site 9 EVI9 NA 11719382, 18245381 Standard NM_022893 NM_018014 NA Approved BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856 uc002sae.1 Q9H165 OTTHUMG00000129420 ENST00000359629.5:c.-265A>C chr2.hg19:g.60780670T>G NA D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7 hg19 CCDS46295.1 0.02 5.976557 AGAxAGA COVERED NOVEL BCL11A-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000325349.2 24 7.79385 KEEP 1 0 0 26 687 TT 0.999988 0.999988 0 - 13 60 410 1 0 28.010314 138 70 3356 250 ENST00000359629.5 0.086093 1 REL 5966 __UNKNOWN__ __UNKNOWN__ 2 61131826 61131826 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:61131826T>C ENST00000394479.3 + 4 579 REL_ENST00000295025.8_Intron Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog NA NA cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) gagtttgagatcagcctgggc 0.478 NA A Hodgkin Lymphoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 2 2p13-p12 5966 v-rel reticuloendotheliosis viral oncogene homolog (avian) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M11595 CCDS1864.1, CCDS74515.1 2p13-p12 2013-07-09 2013-07-09 ENSG00000162924 ENSG00000162924 5966 9954 protein-coding gene gene with protein product 164910 NA 1577270 Standard NM_002908 XM_005264470 NA Approved I-Rel, c-Rel uc002sam.1 Q04864 OTTHUMG00000129418 ENST00000394479.3:c.394+3608T>C chr2.hg19:g.61131826T>C NA Q17RU2|Q2PNZ7|Q6LDY0 hg19 0.02 -0.298222 AGAxCAG COVERED NOVEL REL-002 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000325344.1 11 2.708446 KEEP 0 0 0 9 293 TT 0.99254 0.775233 0 + 3 60 103 0 0 7.408981 29 60 896 65 ENST00000394479.3 0.09375 0.78106 REL 5966 __UNKNOWN__ __UNKNOWN__ 2 61149909 61149909 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:61149909G>T ENST00000394479.3 + 0 2188 REL_ENST00000295025.8_3'UTR Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog NA NA cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) ccaggcgcaggggctcacacc 0.478 NA A Hodgkin Lymphoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 2 2p13-p12 5966 v-rel reticuloendotheliosis viral oncogene homolog (avian) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M11595 CCDS1864.1, CCDS74515.1 2p13-p12 2013-07-09 2013-07-09 ENSG00000162924 ENSG00000162924 5966 9954 protein-coding gene gene with protein product 164910 NA 1577270 Standard NM_002908 XM_005264470 NA Approved I-Rel, c-Rel uc002sam.1 Q04864 OTTHUMG00000129418 ENST00000394479.3:c.*239G>T chr2.hg19:g.61149909G>T NA Q17RU2|Q2PNZ7|Q6LDY0 hg19 0.02 2.736566 CAGxGGC COVERED NOVEL REL-002 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000325344.1 15 14.129508 KEEP 0 0 0 47 1592 GG 1 1 0 + 6 60 179 0 0 10.200818 125 60 4171 262 ENST00000394479.3 0.045802 1 PUS10 150962 __UNKNOWN__ __UNKNOWN__ 2 61240942 61240942 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:61240942T>C ENST00000316752.6 - 2 247 PUS10_ENST00000398658.2_Intron|PUS10_ENST00000407787.1_Intron NM_144709.2 NP_653310.2 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 NA NA pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2) 22 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) ggcagatcacttgaggtcagg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056874 CCDS1865.1 2p16.1 2008-02-05 2008-01-09 2008-01-09 ENSG00000162927 ENSG00000162927 150962 26505 protein-coding gene gene with protein product 612787 coiled-coil domain containing 139 CCDC139 NA 17900615 Standard NM_144709 NM_144709 NA Approved FLJ32312 uc002sao.3 Q3MIT2 OTTHUMG00000129423 ENST00000316752.6:c.15-1902A>G chr2.hg19:g.61240942T>C NA Q5JPJ5|Q96MI8 hg19 CCDS1865.1 0.02 -0.228016 CACxTGA COVERED NOVEL PUS10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251582.2 13 3.009355 KEEP 2 0 0 10 323 TT 0.992708 0.578679 0 - 3 60 98 0 0 7.306224 21 60 611 45 ENST00000316752.6 0.125 0.58293 C2orf74 339804 __UNKNOWN__ __UNKNOWN__ 2 61386474 61386474 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:61386474T>C ENST00000426997.1 + 2 89 RP11-493E12.1_ENST00000605902.1_lincRNA NM_001143960.1 NP_001137432.1 A8MZ97 CB074_HUMAN chromosome 2 open reading frame 74 NA NA integral component of membrane (GO:0016021) endometrium(1) 1 ctctgttgcctaggctggagt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 2p15 2012-08-06 ENSG00000237651 ENSG00000237651 339804 34439 protein-coding gene gene with protein product NA Standard NM_001143959 NM_001143959 NA Approved LOC339804 uc010ypm.1 A8MZ97 ENST00000426997.1:c.-121-3503T>C chr2.hg19:g.61386474T>C NA C9JP62 hg19 0.02 -0.35078 GCCxAGG COVERED NOVEL C2orf74-201 KNOWN basic protein_coding NA protein_coding 11 3.008789 KEEP 0 0 0 10 308 TT 0.992708 0.871307 0 + 4 60 145 2 0 10.809364 35 60 996 75 ENST00000426997.1 0.102564 0.877708 USP34 9736 __UNKNOWN__ __UNKNOWN__ 2 61585108 61585108 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:61585108A>C ENST00000398571.2 - 11 1328 NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 NA NA positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055) cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ggtggatcacatgaggtcata 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011142 CCDS42686.1 2p16.1-p15 2005-08-08 2005-08-08 ENSG00000115464 ENSG00000115464 9736 Ubiquitin-specific peptidases 20066 protein-coding gene gene with protein product 615295 ubiquitin specific protease 34 NA 12838346 Standard NM_014709 NA Approved KIAA0570, KIAA0729 uc002sbe.3 Q70CQ2 OTTHUMG00000152265 ENST00000398571.2:c.1252-7280T>G chr2.hg19:g.61585108A>C NA A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1 hg19 CCDS42686.1 0.02 -0.175412 CACxTGA COVERED NOVEL USP34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325650.4 7 2.407373 KEEP 0 0 0 8 252 AA 0.99257 0.420331 0 - 3 60 102 0 0 8.110155 15 60 446 39 ENST00000398571.2 0.166667 0.423478 XPO1 7514 __UNKNOWN__ __UNKNOWN__ 2 61708475 61708475 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:61708475T>C ENST00000401558.2 - 24 3700 RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000406957.1_Intron|XPO1_ENST00000404992.2_Intron NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 NA NA gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032) annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) gacagagtattgctctgtcac 0.443 NA Mis CLL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -' Dom yes 2 2p15 7514 exportin 1 (CRM1 homolog, yeast) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y08614 CCDS33205.1 2p15 2014-02-19 2014-02-19 ENSG00000082898 ENSG00000082898 7514 Exportins 12825 protein-coding gene gene with protein product chromosome region maintenance 1 homolog (yeast) 602559 exportin 1 (CRM1, yeast, homolog), exportin 1 (CRM1 homolog, yeast) NA 9205132, 9368044 Standard NM_003400 XM_005264544 NA Approved CRM1, emb uc002sbj.3 O14980 OTTHUMG00000152316 ENST00000401558.2:c.2973-59A>G chr2.hg19:g.61708475T>C NA A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433 hg19 CCDS33205.1 0.02 -0.359557 TATxGCT COVERED NOVEL XPO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325872.3 5 3.005809 KEEP 0 0 0 10 295 TT 0.992708 0.882393 0 - 3 69 97 0 0 6.473915 38 60 1123 60 ENST00000401558.2 0.073171 0.888875 XPO1 7514 __UNKNOWN__ __UNKNOWN__ 2 61709459 61709459 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:61709459T>C ENST00000401558.2 - 23 3700 RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000406957.1_Intron|XPO1_ENST00000404992.2_Intron NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 NA NA gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032) annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) ggattacaggtgtgagccact 0.468 NA Mis CLL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -' Dom yes 2 2p15 7514 exportin 1 (CRM1 homolog, yeast) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y08614 CCDS33205.1 2p15 2014-02-19 2014-02-19 ENSG00000082898 ENSG00000082898 7514 Exportins 12825 protein-coding gene gene with protein product chromosome region maintenance 1 homolog (yeast) 602559 exportin 1 (CRM1, yeast, homolog), exportin 1 (CRM1 homolog, yeast) NA 9205132, 9368044 Standard NM_003400 XM_005264544 NA Approved CRM1, emb uc002sbj.3 O14980 OTTHUMG00000152316 ENST00000401558.2:c.2972+55A>G chr2.hg19:g.61709459T>C NA A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433 hg19 CCDS33205.1 0.02 1.587641 AGGxGTG COVERED NOVEL XPO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325872.3 13 2.242223 KEEP 0 1 36 20 624 TT 0.999869 0.999187 0 - 4 60 135 0 0 8.655412 70 60 1968 144 ENST00000401558.2 0.054054 0.999317 FAM161A 84140 __UNKNOWN__ __UNKNOWN__ 2 62053035 62053035 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:62053035A>G ENST00000404929.1 - 0 2717 FAM161A_ENST00000405894.3_3'UTR NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A NA NA cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391) breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 gcctcccaaaatgctgggatt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS42687.2, CCDS56120.1 2p15 2011-03-15 ENSG00000170264 ENSG00000170264 84140 25808 protein-coding gene gene with protein product 613596 retinitis pigmentosa 28 (autosomal recessive) RP28 NA 10507729, 20705278, 20705279 Standard NM_032180 NM_032180 NA Approved FLJ13305 uc002sbm.4 Q3B820 OTTHUMG00000152165 ENST00000404929.1:c.*555T>C chr2.hg19:g.62053035A>G NA B4DJV7|Q9H8R2 hg19 CCDS56120.1 0.02 -0.411891 AAAxTGC COVERED NOVEL FAM161A-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000325541.2 9 2.407609 KEEP 1 0 0 8 264 AA 0.99257 0.934744 0 - 6 60 172 1 0 12.50093 38 60 1120 75 ENST00000404929.1 0.136364 0.941741 COMMD1 150684 __UNKNOWN__ __UNKNOWN__ 2 62142910 62142910 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:62142910T>C ENST00000311832.5 + 1 212 COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Intron NM_152516.2 NP_689729.1 Q8N668 COMD1_HUMAN copper metabolism (Murr1) domain containing 1 NA NA copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434) Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803) large_intestine(1)|liver(2)|lung(5)|ovary(1) 9 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) ggattacaggtatgagccacc 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022046 CCDS1869.1 2p15 2004-03-02 2004-02-13 2004-02-18 ENSG00000173163 ENSG00000173163 150684 23024 protein-coding gene gene with protein product copper metabolism gene MURR1 607238 chromosome 2 open reading frame 5 (MURR1) C2orf5 NA 9001233, 11809725 Standard NM_152516 NM_152516 NA Approved MURR1, MGC27155 uc002sbp.3 Q8N668 OTTHUMG00000129445 ENST00000311832.5:c.180+9917T>C chr2.hg19:g.62142910T>C NA B4DFQ4|Q96GS0 hg19 CCDS1869.1 0.02 1.842644 AGGxATG COVERED NOVEL COMMD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251607.2 4 4.045341 KEEP 0 1 36 26 768 TT 0.999988 0.99961 0 + 5 60 176 0 0 11.839224 76 60 2133 128 ENST00000311832.5 0.061728 0.999622 COMMD1 150684 __UNKNOWN__ __UNKNOWN__ 2 62289642 62289642 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:62289642T>C ENST00000311832.5 + 2 494 COMMD1_ENST00000472729.1_Intron NM_152516.2 NP_689729.1 Q8N668 COMD1_HUMAN copper metabolism (Murr1) domain containing 1 NA NA copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434) Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803) large_intestine(1)|liver(2)|lung(5)|ovary(1) 9 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) ggattacaggtgtgagccacc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022046 CCDS1869.1 2p15 2004-03-02 2004-02-13 2004-02-18 ENSG00000173163 ENSG00000173163 150684 23024 protein-coding gene gene with protein product copper metabolism gene MURR1 607238 chromosome 2 open reading frame 5 (MURR1) C2orf5 NA 9001233, 11809725 Standard NM_152516 NM_152516 NA Approved MURR1, MGC27155 uc002sbp.3 Q8N668 OTTHUMG00000129445 ENST00000311832.5:c.462+61525T>C chr2.hg19:g.62289642T>C NA B4DFQ4|Q96GS0 hg19 CCDS1869.1 0.02 -0.420961 AGGxGTG COVERED NOVEL COMMD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251607.2 8 3.007838 KEEP 0 0 0 10 293 TT 0.992708 0.947531 0 + 3 60 102 0 0 6.847189 42 60 1224 79 ENST00000311832.5 0.066667 0.954491 WDPCP 51057 __UNKNOWN__ __UNKNOWN__ 2 63456981 63456981 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:63456981G>A ENST00000272321.7 - 14 2443 WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000398544.3_Intron|WDPCP_ENST00000409562.3_Silent_p.Y613Y|WDPCP_ENST00000409120.1_Intron NM_015910.5 NP_056994.3 O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector NA NA auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224) axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 gccttgtagtgtagtttgaag 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42688.1, CCDS46301.1 2p15 2014-04-24 2011-02-01 2011-02-01 ENSG00000143951 ENSG00000143951 51057 28027 protein-coding gene gene with protein product 613580 chromosome 2 open reading frame 86 C2orf86 NA 15654087, 20671153 Standard NM_015910 NM_015910 NA Approved hFrtz, fritz, BBS15 uc002sch.3 O95876 OTTHUMG00000152566 ENST00000272321.7:c.1915+29460C>T chr2.hg19:g.63456981G>A NA Q53RW4|Q7Z2Z3 hg19 CCDS42688.1 0.02 1.298294 AGTxTAG COVERED NOVEL WDPCP-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326820.1 19 4.809779 KEEP 1 0 0 16 556 GG 0.997832 0.996943 0 - 10 60 274 1 0 19.459803 64 60 2141 164 ENST00000272321.7 0.135135 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 64013394 64013394 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:64013394G>C NA NA AC096664.3 (90725 upstream) : UGP2 (54679 downstream) NA NA NA aatcctcctggctcagcctcc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.64013394G>C NA hg19 0.02 -0.307022 CTGxCTC COVERED NOVEL 0 9 2.408014 KEEP 1 0 0 8 299 GG 0.99257 0.7943 0 3 60 94 1 0 6.600171 27 60 915 66 0.1 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 64535926 64535926 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:64535926T>C NA NA AC074289.1 (55933 upstream) : AC114752.1 (21693 downstream) NA NA NA catgagccactgcgcctggcc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.64535926T>C NA hg19 0.02 -0.254363 CACxGCG COVERED NOVEL 0 4 3.009342 KEEP 1 0 0 10 321 TT 0.992708 0.663648 0 3 60 101 0 0 7.548796 22 60 667 59 0.12 0.668523 RAB1A 5861 __UNKNOWN__ __UNKNOWN__ 2 65334231 65334231 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:65334231G>A ENST00000409784.3 - 2 214 RAB1A_ENST00000409892.1_Intron|RAB1A_ENST00000356214.7_Intron|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000409751.1_Intron NM_004161.4 NP_004152.1 P62820 RAB1A_HUMAN RAB1A, member RAS oncogene family NA NA autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068) endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470) GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(1)|kidney(1)|lung(3)|prostate(1) 6 caagagtctcgctctgttgcc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M28209 CCDS46305.1, CCDS46306.1 2p14 2008-02-05 2002-03-17 ENSG00000138069 ENSG00000138069 5861 RAB, member RAS oncogene 9758 protein-coding gene gene with protein product Rab GTPase YPT1 homolog (yeast) 179508 RAB1 NA 2501306 Standard NM_004161 NM_004161 NA Approved YPT1 uc002sdm.3 P62820 OTTHUMG00000152725 ENST00000409784.3:c.24-2291C>T chr2.hg19:g.65334231G>A NA P11476|Q6FIE7|Q96N61|Q9Y3T2 hg19 CCDS46306.1 0.02 -0.298242 CTCxCTC COVERED NOVEL RAB1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327572.1 8 2.70877 KEEP 0 0 0 9 316 GG 0.99254 0.794276 0 - 3 60 92 0 0 6.353564 28 60 930 64 ENST00000409784.3 0.096774 0.800245 SPRED2 200734 __UNKNOWN__ __UNKNOWN__ 2 65590056 65590056 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:65590056A>T ENST00000443619.2 - 1 61 SPRED2_ENST00000356388.4_Intron|SPRED2_ENST00000474228.1_Intron NM_001128210.1 NP_001121682.1 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 NA NA inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 atgcctgtaaacccagcactt 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052178 CCDS33211.1, CCDS46308.1 2p14 2003-06-02 ENSG00000198369 ENSG00000198369 200734 17722 protein-coding gene gene with protein product 609292 NA Standard NM_181784 NA Approved Spred-2, FLJ21897, FLJ31917 uc002sdr.4 Q7Z698 OTTHUMG00000152737 ENST00000443619.2:c.17+3667T>A chr2.hg19:g.65590056A>T NA A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6 hg19 CCDS46308.1 0.02 -0.333229 TAAxCCC COVERED NOVEL SPRED2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376661.1 10 2.707779 KEEP 0 0 0 9 274 AA 0.99254 0.845628 0 - 4 60 117 0 0 8.159267 32 60 906 66 ENST00000443619.2 0.111111 0.851984 C1D 10438 __UNKNOWN__ __UNKNOWN__ 2 68287751 68287751 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:68287751A>G ENST00000407324.1 - 1 38 C1D_ENST00000470189.2_Intron|C1D_ENST00000355848.3_Intron|C1D_ENST00000409302.1_Intron|C1D_ENST00000410067.3_Intron Q13901 C1D_HUMAN C1D nuclear receptor corepressor NA NA apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714) lung(2)|urinary_tract(1) 3 ctccagcctgagcaacagagt 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1883.1 2p13-p12 2010-06-10 2010-06-10 ENSG00000197223 ENSG00000197223 10438 29911 protein-coding gene gene with protein product small unique nuclear receptor co-repressor 606997 C1D nuclear receptor co-repressor NA 9469821, 17599775, 17412707, 11801738, 9405624 Standard NM_006333 NM_006333 NA Approved SUNCOR, SUN-CoR, LRP1 uc002seb.3 Q13901 OTTHUMG00000129564 ENST00000407324.1:c.117+2325T>C chr2.hg19:g.68287751A>G NA A8K336|D6W5F8|Q05D64 hg19 0.02 -0.236815 CTGxGCA COVERED NOVEL C1D-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000326399.2 4 3.309333 KEEP 1 0 0 11 340 AA 0.993072 0.608164 0 - 3 60 100 1 0 7.505573 21 60 626 47 ENST00000407324.1 0.125 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 68498355 68498355 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:68498355C>T NA NA RP11-474G23.1 (9993 upstream) : AC017083.3 (1880 downstream) NA NA NA ggattacaggcgtgagccacc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.68498355C>T NA hg19 0.02 -0.210524 AGGxGTG COVERED NOVEL 0 6 2.708738 KEEP 2 0 0 9 313 CC 0.99254 0.518266 0 3 58 90 1 0 6.761214 17 60 556 47 0.15 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 69621612 69621612 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:69621612T>C NA NA GFPT1 (7230 upstream) : NFU1 (1269 downstream) NA NA NA gtcacccaggttggagtgcaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.69621612T>C NA hg19 0.02 1.625539 AGGxTGG COVERED NOVEL 0 13 5.717966 KEEP 0 0 0 19 620 TT 0.99986 0.999586 0 4 60 138 0 0 8.815398 76 60 2272 157 0.05 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 69621651 69621651 __UNKNOWN__ IGR SNP C C T rs550222945 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:69621651C>T NA NA GFPT1 (7269 upstream) : NFU1 (1230 downstream) NA NA NA ctgcaacctccgcctcccagg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.69621651C>T NA hg19 0.02 1.340376 CTCxGCC COVERED NOVEL 0 6 4.814685 KEEP 0 0 0 16 526 CC 0.997832 0.989943 0 5 60 144 0 0 9.39732 53 60 1639 99 0.086207 0.992094 NFU1 27247 __UNKNOWN__ __UNKNOWN__ 2 69642546 69642546 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:69642546T>C ENST00000410022.2 - 5 575 NFU1_ENST00000303698.3_Intron|NFU1_ENST00000462320.1_Intron|NFU1_ENST00000394305.1_Intron|NFU1_ENST00000471185.1_Intron NM_001002755.2 NP_001002755.1 Q9UMS0 NFU1_HUMAN NFU1 iron-sulfur cluster scaffold NA NA iron-sulfur cluster assembly (GO:0016226) cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 7 ctcactctgttgcccaggctg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ132584 CCDS33217.1, CCDS42694.1, CCDS46315.1 2p15-p13 2014-07-03 2014-07-03 2006-10-24 ENSG00000169599 ENSG00000169599 27247 16287 protein-coding gene gene with protein product 608100 HIRA interacting protein 5, NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) HIRIP5 NA 11342215, 12886008 Standard NM_015700 NR_045631 NA Approved CGI-33, NifU, NIFUC uc002sfk.3 Q9UMS0 OTTHUMG00000152668 ENST00000410022.2:c.370-115A>G chr2.hg19:g.69642546T>C NA B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322 hg19 CCDS33217.1 0.02 1.935727 TGTxGCC COVERED NOVEL NFU1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000327279.3 1 4.381737 KEEP 1 2 58 35 1097 TT 1 0.992925 0 - 6 60 174 1 0 12.302399 44 60 1284 128 ENST00000410022.2 0.12 0.992926 ANXA4 307 __UNKNOWN__ __UNKNOWN__ 2 69954139 69954139 __UNKNOWN__ Intron SNP C C T rs542264635 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:69954139C>T ENST00000418066.2 + 3 864 P09525 ANXA4_HUMAN annexin A4 NA NA epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 ctcagcctcccgagtagctgg 0.577 NA C||| 2 0.000399361 8e-04 0.0014 5008 , , NA 17446 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M82809 CCDS1894.1 2p13.3 2008-02-05 ENSG00000196975 ENSG00000196975 307 Annexins 542 protein-coding gene gene with protein product 106491 ANX4 NA 1346776 Standard NM_001153 NM_001153 NA Approved uc002sfr.4 P09525 OTTHUMG00000129649 ENST00000418066.2:c.864+6136C>T chr2.hg19:g.69954139C>T NA B4DDF9|Q96F33|Q9BWK1 hg19 0.02 -0.18421 TCCxGAG COVERED NOVEL ANXA4-013 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000470748.1 3 2.40693 KEEP 0 0 0 8 264 CC 0.99257 0.420331 0 + 3 60 92 0 0 7.191801 14 60 456 41 ENST00000418066.2 0.176471 0.423478 AC016700.3 0 __UNKNOWN__ __UNKNOWN__ 2 70323848 70323848 __UNKNOWN__ RNA SNP C C T rs185867219 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:70323848C>T ENST00000442326.1 - 0 165 NA NA NA tttgggaggccaaggcgagat 0.423 NA C||| 7 0.00139776 0.0053 0 5008 , , NA 17473 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000442326.1: chr2.hg19:g.70323848C>T NA hg19 0.02 -0.20167 GGCxAAG COVERED NOVEL AC016700.3-003 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000329687.1 4 2.70882 KEEP 0 0 0 9 319 CC 0.99254 0.486885 0 - 3 60 92 0 0 6.827936 19 60 625 46 ENST00000442326.1 0.136364 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 70333108 70333108 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:70333108T>C NA NA AC016700.3 (2756 upstream) : AC016700.5 (18059 downstream) NA NA NA gtttttgagatggagtttcgc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.70333108T>C NA hg19 0.02 -0.236715 AGAxGGA COVERED NOVEL 0 6 3.008702 KEEP 2 0 0 10 300 TT 0.992708 0.607941 0 3 60 99 1 0 7.406249 21 60 602 53 0.125 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 70480138 70480138 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:70480138A>G NA NA MIR1285-2 (1 upstream) : PCYOX1 (4703 downstream) NA NA NA gcctcccaaaatgctggaatt 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.70480138A>G NA hg19 0.02 1.596988 AAAxTGC COVERED NOVEL 0 7 8.412307 KEEP 0 0 0 28 856 AA 0.999997 0.999107 0 4 60 136 0 0 8.805728 68 60 1949 150 0.055556 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 70480145 70480145 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:70480145A>G NA NA MIR1285-2 (8 upstream) : PCYOX1 (4696 downstream) NA NA NA aaaatgctggaattacaggtg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.70480145A>G NA hg19 0.02 1.587443 TGGxATT COVERED NOVEL 0 7 8.12398 KEEP 0 0 0 27 848 AA 0.999988 0.999206 0 4 60 134 0 0 8.579426 69 60 2002 150 0.054795 0.999218 NAGK 55577 __UNKNOWN__ __UNKNOWN__ 2 71306649 71306649 __UNKNOWN__ 3'UTR SNP C C T rs370903038 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:71306649C>T ENST00000418807.3 + 0 2057 Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase NA NA carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262) extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127) breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) cggtggctcacgcctgtaatc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ242910 CCDS33220.1, CCDS33220.2 2p24.3-p24.1 2008-02-05 ENSG00000124357 ENSG00000124357 55577 2.7.1.59 17174 protein-coding gene gene with protein product 606828 NA 10824116 Standard NM_017567 NA Approved GNK uc002shp.4 Q9UJ70 OTTHUMG00000153239 ENST00000418807.3:c.*1011C>T chr2.hg19:g.71306649C>T NA B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37 hg19 0.02 4.601654 TCAxGCC COVERED NOVEL NAGK-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000330337.6 21 18.488702 KEEP 2 1 30 72 2450 CC 1 1 0 + 7 60 211 0 0 11.808422 162 60 5190 351 ENST00000418807.3 0.04142 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 71495308 71495308 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:71495308T>C NA NA PAIP2B (41095 upstream) : ZNF638 (8414 downstream) NA NA NA tgcctgtaattccagcacttt 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.71495308T>C NA hg19 0.02 -0.157869 AATxCCA COVERED NOVEL 0 5 2.708069 KEEP 1 0 0 9 277 TT 0.99257 0.320408 0 5 60 165 0 0 14.413802 12 60 347 36 0.294118 0.322807 SFXN5 94097 __UNKNOWN__ __UNKNOWN__ 2 73280243 73280243 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:73280243C>T ENST00000272433.2 - 2 302 SFXN5_ENST00000474528.1_Intron|SFXN5_ENST00000410065.1_Intron NM_144579.2 NP_653180.1 Q8TD22 SFXN5_HUMAN sideroflexin 5 NA NA iron ion homeostasis (GO:0055072) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 gaggcagaggctgcagtgagc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY044437 CCDS1922.1 2p13 2008-05-21 ENSG00000144040 ENSG00000144040 94097 Sideroflexins 16073 protein-coding gene gene with protein product 615572 NA 12039050, 12150972 Standard NM_144579 XM_005264648 NA Approved BBG-TCC uc002siq.3 Q8TD22 OTTHUMG00000129775 ENST00000272433.2:c.171+5413G>A chr2.hg19:g.73280243C>T NA A8K116|Q494Y3|Q53T29 hg19 CCDS1922.1 0.02 1.293584 AGGxTGC COVERED NOVEL SFXN5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251991.1 6 9.027921 KEEP 0 0 0 30 1031 CC 0.999997 0.984158 0 - 6 60 154 0 0 10.097327 48 70 1564 102 ENST00000272433.2 0.111111 0.984161 NOTO 344022 __UNKNOWN__ __UNKNOWN__ 2 73438872 73438872 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:73438872T>G ENST00000398468.3 + 0 1980 NM_001134462.1 NP_001127934.1 A8MTQ0 NOTO_HUMAN notochord homeobox NA NA cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|notochord development (GO:0030903)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(2) 2 tgggattacatgtgtgagcca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46335.1 2p13.2 2011-06-20 2007-02-15 ENSG00000214513 ENSG00000214513 344022 Homeoboxes / ANTP class : NKL subclass 31839 protein-coding gene gene with protein product notochord homolog (Xenopus laevis) NA 15231714 Standard XM_292889 NM_001134462 NA Approved uc010yrd.2 A8MTQ0 OTTHUMG00000164128 ENST00000398468.3:c.*815T>G chr2.hg19:g.73438872T>G NA B4DJ59|B7ZAU5 hg19 CCDS46335.1 0.02 1.769127 ACAxGTG COVERED NOVEL NOTO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377385.2 7 5.379664 KEEP 0 2 40 32 991 TT 0.999998 0.999405 0 + 7 60 242 0 0 17.483565 67 60 1917 174 ENST00000398468.3 0.094595 0.999407 NOTO 344022 __UNKNOWN__ __UNKNOWN__ 2 73439318 73439318 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:73439318A>G ENST00000398468.3 + 0 2426 NM_001134462.1 NP_001127934.1 A8MTQ0 NOTO_HUMAN notochord homeobox NA NA cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|notochord development (GO:0030903)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(2) 2 tgtcacccagactggagtgca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46335.1 2p13.2 2011-06-20 2007-02-15 ENSG00000214513 ENSG00000214513 344022 Homeoboxes / ANTP class : NKL subclass 31839 protein-coding gene gene with protein product notochord homolog (Xenopus laevis) NA 15231714 Standard XM_292889 NM_001134462 NA Approved uc010yrd.2 A8MTQ0 OTTHUMG00000164128 ENST00000398468.3:c.*1261A>G chr2.hg19:g.73439318A>G NA B4DJ59|B7ZAU5 hg19 CCDS46335.1 0.02 -0.419293 CAGxCTG COVERED NOVEL NOTO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377385.2 3 4.210389 KEEP 0 0 0 14 419 AA 0.995343 0.943985 0 + 3 60 103 0 0 7.107213 37 60 1061 74 ENST00000398468.3 0.075 0.948402 ALMS1 7840 __UNKNOWN__ __UNKNOWN__ 2 73818073 73818073 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:73818073A>G ENST00000264448.6 + 17 11655 ALMS1_ENST00000409009.1_Intron NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 NA NA endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 aaagtgctggaattacaggcg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002326 CCDS42697.1 2p13.1 2014-09-17 ENSG00000116127 ENSG00000116127 7840 428 protein-coding gene gene with protein product 606844 NA 9063741 Standard NM_015120 NM_015120 NA Approved KIAA0328 uc002sje.1 Q8TCU4 OTTHUMG00000152812 ENST00000264448.6:c.11545-8455A>G chr2.hg19:g.73818073A>G NA Q53S05|Q580Q8|Q86VP9|Q9Y4G4 hg19 CCDS42697.1 0.02 -0.201711 TGGxATT COVERED NOVEL ALMS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000327776.1 4 2.707791 KEEP 0 0 0 9 273 AA 0.99254 0.486885 0 + 3 60 96 0 0 7.227535 19 60 559 43 ENST00000264448.6 0.136364 0.490544 STAMBP 10617 __UNKNOWN__ __UNKNOWN__ 2 74089243 74089243 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:74089243A>G ENST00000394070.2 + 10 1721 STAMBP_ENST00000486458.1_Intron|STAMBP_ENST00000409707.1_Intron|STAMBP_ENST00000394073.1_Intron|STAMBP_ENST00000339566.3_Intron NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein NA NA JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579) cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 cagcctgggcaacagagcaag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007682 CCDS1929.1 2p24.3-p24.1 2008-02-05 ENSG00000124356 ENSG00000124356 10617 16950 protein-coding gene gene with protein product 606247 NA 10383417 Standard NM_006463 NM_006463 NA Approved AMSH uc002sjs.3 O95630 OTTHUMG00000129817 ENST00000394070.2:c.1219-87A>G chr2.hg19:g.74089243A>G NA B5M0B6|D6W5H7|Q3MJE7 hg19 CCDS1929.1 0.02 -0.429717 GGCxACA COVERED NOVEL STAMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252048.2 7 8.725815 KEEP 0 0 0 29 907 AA 0.999997 0.959856 0 + 4 60 132 1 0 9.290365 40 70 1149 91 ENST00000394070.2 0.090909 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 74230314 74230314 __UNKNOWN__ IGR SNP C C T rs57360501|rs142058377 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:74230314C>T NA NA RP11-711M9.1 (9447 upstream) : TET3 (43135 downstream) NA NA NA tgtgtgcgtgcgtgtgtgtgc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.74230314C>T NA hg19 0.02 5.870817 GTGxGTG COVERED NOVEL 0 10 14.03085 KEEP 0 3 95 80 2673 CC 1 1 0 10 60 289 1 1 16.488867 189 60 6092 413 0.050251 1 TTC31 64427 __UNKNOWN__ __UNKNOWN__ 2 74710901 74710901 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:74710901A>T ENST00000233623.5 + 2 136 TTC31_ENST00000463189.1_Intron|TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_Intron NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 NA NA breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 cccaggagttagagaccagcc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026819 CCDS42701.1 2p13.1 2013-01-11 ENSG00000115282 ENSG00000115282 64427 Tetratricopeptide (TTC) repeat domain containing 25759 protein-coding gene gene with protein product NA 12477932 Standard NM_022492 NM_022492 NA Approved FLJ12788 uc002slt.2 Q49AM3 OTTHUMG00000152887 ENST00000233623.5:c.129+364A>T chr2.hg19:g.74710901A>T NA Q4KN40|Q53FD4|Q9H9F7 hg19 CCDS42701.1 0.02 -0.28061 GTTxGAG COVERED NOVEL TTC31-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328422.1 3 3.310152 KEEP 0 0 0 11 346 AA 0.993072 0.755616 0 + 3 60 94 0 0 6.510365 29 60 832 68 ENST00000233623.5 0.09375 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 78899963 78899963 __UNKNOWN__ IGR SNP A A C rs555214311 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:78899963A>C NA NA AC092660.1 (73431 upstream) : RNU6-827P (209609 downstream) NA NA NA gggccgggcgaggtggctcac 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.78899963A>C NA hg19 0.02 -0.411657 GCGxGGT COVERED NOVEL 0 8 4.21275 KEEP 0 0 0 14 437 AT 0.997832 0.939699 0 3 60 105 1 0 7.178984 41 60 1185 79 0.068182 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 83937357 83937357 __UNKNOWN__ IGR SNP T T A rs202125882 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:83937357T>A NA NA RNU6-1312P (52391 upstream) : SNORD112 (148589 downstream) NA NA NA cagcctcccatagtgctggga 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.83937357T>A NA hg19 0.02 -0.227452 CCAxAGT COVERED NOVEL 0 7 2.405091 KEEP 0 0 0 8 235 TT 0.99257 0.578599 0 3 60 89 0 0 6.354159 22 60 601 56 0.12 0.58293 TCF7L1 83439 __UNKNOWN__ __UNKNOWN__ 2 85511402 85511402 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:85511402A>G ENST00000282111.3 + 4 800 NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) NA NA anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 caaagtgctgagattacaggc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X62870 CCDS1971.1 2p11.2 2008-02-05 ENSG00000152284 ENSG00000152284 83439 11640 protein-coding gene gene with protein product 604652 TCF3 NA 1741298, 11085512 Standard NM_031283 NM_031283 NA Approved uc002soy.3 Q9HCS4 OTTHUMG00000130026 ENST00000282111.3:c.525+701A>G chr2.hg19:g.85511402A>G NA Q53R97|Q6PD70|Q9NP00 hg19 CCDS1971.1 0.02 -0.175431 CTGxGAT COVERED NOVEL TCF7L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252301.2 5 2.407552 KEEP 0 0 0 8 261 AA 0.99257 0.384528 0 + 3 60 97 0 0 7.460821 17 60 527 46 ENST00000282111.3 0.15 0.387407 TCF7L1 83439 __UNKNOWN__ __UNKNOWN__ 2 85513660 85513660 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:85513660T>C ENST00000282111.3 + 4 800 NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) NA NA anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 ctcttgttgctcaggctggag 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X62870 CCDS1971.1 2p11.2 2008-02-05 ENSG00000152284 ENSG00000152284 83439 11640 protein-coding gene gene with protein product 604652 TCF3 NA 1741298, 11085512 Standard NM_031283 NM_031283 NA Approved uc002soy.3 Q9HCS4 OTTHUMG00000130026 ENST00000282111.3:c.525+2959T>C chr2.hg19:g.85513660T>C NA Q53R97|Q6PD70|Q9NP00 hg19 CCDS1971.1 0.02 -0.228052 TGCxCAG COVERED NOVEL TCF7L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252301.2 7 2.708651 KEEP 1 0 0 9 301 TT 0.99254 0.578582 0 + 3 60 102 0 0 7.764694 20 60 603 50 ENST00000282111.3 0.130435 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 85750202 85750202 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:85750202G>C NA NA Y_RNA (62827 upstream) : RN7SL830P (9264 downstream) NA NA NA ggagccctgagcttattttct 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.85750202G>C NA hg19 0.02 -0.245481 TGAxCTT COVERED NOVEL 0 2 3.31093 KEEP 0 0 0 11 401 GG 0.993072 0.663892 0 13 60 419 0 0 39.690446 15 60 520 53 0.464286 0.668523 VAMP8 8673 __UNKNOWN__ __UNKNOWN__ 2 85798465 85798465 __UNKNOWN__ Intron SNP A A C rs541120859 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:85798465A>C ENST00000432071.1 + 2 83 Q9BV40 VAMP8_HUMAN vesicle-associated membrane protein 8 NA NA autophagic vacuole fusion (GO:0000046)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718) cell surface (GO:0009986)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201) breast(1)|endometrium(2)|large_intestine(1)|stomach(2) 6 gcctgtaatcacagcactttg 0.502 NA A||| 1 0.000199681 0 0 5008 , , NA 17126 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF053233 CCDS1979.1 2p12-p11.2 2013-02-13 2012-10-17 ENSG00000118640 ENSG00000118640 8673 Vesicle-associated membrane proteins 12647 protein-coding gene gene with protein product endobrevin 603177 NA 9878266, 9614193 Standard NM_003761 NM_003761 NA Approved EDB uc002spt.4 Q9BV40 OTTHUMG00000130180 ENST00000432071.1:c.-75-7667A>C chr2.hg19:g.85798465A>C NA O60625|Q53SP9|Q6IB09 hg19 0.02 -0.192959 ATCxCAG COVERED NOVEL VAMP8-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000329448.2 4 2.405677 KEEP 0 0 0 8 232 AA 0.99257 0.454356 0 + 4 60 134 0 0 11.281124 13 60 385 40 ENST00000432071.1 0.235294 0.457757 SFTPB 6439 __UNKNOWN__ __UNKNOWN__ 2 85890824 85890824 __UNKNOWN__ Silent SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:85890824G>T ENST00000519937.2 - 7 838 c.819C>A c.(817-819)ctC>ctA p.L273L SFTPB_ENST00000342375.3_Silent_p.L273L|SFTPB_ENST00000393822.3_Silent_p.L285L|SFTPB_ENST00000409383.1_Silent_p.L285L P07988 PSPB_HUMAN surfactant protein B 273 Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}. NA organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665) extracellular region (GO:0005576)|lysosome (GO:0005764) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 ACCGGAGGACGAGGCGGCAGA 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 25 28 27 NA NA NA 2 NA NA 85890824 2200 4299 6499 SO:0001819 synonymous_variant J02761 CCDS1983.1, CCDS1983.2 2p12-p11.2 2008-08-26 2008-08-26 ENSG00000168878 ENSG00000168878 6439 10801 protein-coding gene gene with protein product 178640 surfactant, pulmonary-associated protein B SFTP3 NA 2924687, 1346779 Standard NM_198843 NM_198843 NA Approved SP-B uc002sqh.3 P07988 OTTHUMG00000130181 ENST00000519937.2:c.819C>A chr2.hg19:g.85890824G>T NA Q96R04 hg19 0.02 5.773564 GACxAGG COVERED . . . . . . . . . . G 10.28 1.306054 0.23736 . . ENSG00000168878 ENST00000428225 . . . 5.24 -1.32 0.09201 . . . . . T 0.49983 0.1589 . . . 0.80722 D 1 . . . . . . T 0.38286 -0.9668 4 . . . -12.6603 5.3001 0.15773 0.4669:0.1433:0.3898:0.0 . . . . S 270 . . R - 1 0 SFTPB 85744335 0.000000 0.05858 0.982000 0.44146 0.981000 0.71138 -1.801000 0.01743 -0.303000 0.08856 0.561000 0.74099 CGT NOVEL SFTPB-001 KNOWN alternative_3_UTR|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000252499.3 3 20.465253 KEEP 0 0 0 68 2360 GG 1 1 0 - 84 60 2377 0 0 215.051156 132 60 4268 426 ENST00000519937.2 0.388889 1 PTCD3 55037 __UNKNOWN__ __UNKNOWN__ 2 86361585 86361585 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:86361585G>T ENST00000254630.7 + 20 1695 NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 NA NA mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417) mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843) NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 CTGCCATTTTGGAGAGTTCTG 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33235.1 2p11.2 2014-02-12 2012-02-24 ENSG00000132300 ENSG00000132300 55037 24717 protein-coding gene gene with protein product 614918 NA 8889548 Standard NM_017952 NM_017952 NA Approved FLJ20758, DKFZp666K071 uc002sqw.2 Q96EY7 OTTHUMG00000153168 ENST00000254630.7:c.1629+85G>T chr2.hg19:g.86361585G>T NA A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0 hg19 CCDS33235.1 0.02 1.467466 TTTxGAG COVERED NOVEL PTCD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329854.1 1 10.232978 KEEP 0 0 0 34 1194 GG 0.999998 0.997161 0 + 29 60 880 0 0 81.443553 40 60 1364 159 ENST00000254630.7 0.42029 0.997163 MRPL35 51318 __UNKNOWN__ __UNKNOWN__ 2 86433479 86433479 __UNKNOWN__ Intron SNP G G A rs138551687 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:86433479G>A ENST00000337109.4 + 2 267 MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000409180.1_Intron|MRPL35_ENST00000254644.8_Intron NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761) structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 tttttgagacggagtctcact 0.463 NA G||| 23 0.00459265 0.0151 0.0029 5008 , , NA 17572 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF208849 CCDS1987.1, CCDS1988.1 2p11.2 2012-09-13 ENSG00000132313 ENSG00000132313 51318 Mitochondrial ribosomal proteins / large subunits 14489 protein-coding gene gene with protein product 611841 NA 11042152, 11551941 Standard NM_016622 NM_016622 NA Approved uc002srg.4 Q9NZE8 OTTHUMG00000037385 ENST00000337109.4:c.233+61G>A chr2.hg19:g.86433479G>A NA A6NKV6|B2RB93|Q658U7|Q8WWA2 hg19 CCDS1988.1 0.02 1.236769 GACxGAG COVERED NOVEL MRPL35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091002.2 5 10.080545 KEEP 0 2 61 55 1822 GG 1 0.999678 0 + 5 60 154 1 0 9.937932 66 60 2093 179 ENST00000337109.4 0.070423 0.999678 MRPL35 51318 __UNKNOWN__ __UNKNOWN__ 2 86433487 86433487 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:86433487A>G ENST00000337109.4 + 2 267 MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000409180.1_Intron|MRPL35_ENST00000254644.8_Intron NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761) structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 acggagtctcactctgttgcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF208849 CCDS1987.1, CCDS1988.1 2p11.2 2012-09-13 ENSG00000132313 ENSG00000132313 51318 Mitochondrial ribosomal proteins / large subunits 14489 protein-coding gene gene with protein product 611841 NA 11042152, 11551941 Standard NM_016622 NM_016622 NA Approved uc002srg.4 Q9NZE8 OTTHUMG00000037385 ENST00000337109.4:c.233+69A>G chr2.hg19:g.86433487A>G NA A6NKV6|B2RB93|Q658U7|Q8WWA2 hg19 CCDS1988.1 0.02 1.470681 CTCxCTC COVERED NOVEL MRPL35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091002.2 3 11.350651 KEEP 0 1 38 51 1375 AA 1 0.999487 0 + 4 60 128 0 0 8.135166 63 60 1698 158 ENST00000337109.4 0.059701 0.999487 MRPL35 51318 __UNKNOWN__ __UNKNOWN__ 2 86434516 86434516 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:86434516A>G ENST00000337109.4 + 3 412 MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000409180.1_Intron|MRPL35_ENST00000254644.8_Intron NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761) structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 gctcacgcctataatcccagc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF208849 CCDS1987.1, CCDS1988.1 2p11.2 2012-09-13 ENSG00000132313 ENSG00000132313 51318 Mitochondrial ribosomal proteins / large subunits 14489 protein-coding gene gene with protein product 611841 NA 11042152, 11551941 Standard NM_016622 NM_016622 NA Approved uc002srg.4 Q9NZE8 OTTHUMG00000037385 ENST00000337109.4:c.378+66A>G chr2.hg19:g.86434516A>G NA A6NKV6|B2RB93|Q658U7|Q8WWA2 hg19 CCDS1988.1 0.02 -0.420829 CCTxTAA COVERED NOVEL MRPL35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091002.2 8 5.113463 KEEP 0 0 0 17 498 AA 0.999366 0.947801 0 + 5 60 158 0 0 11.374432 40 60 1084 79 ENST00000337109.4 0.111111 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 87578441 87578441 __UNKNOWN__ IGR SNP C C T rs374594281 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:87578441C>T NA NA IGKV3OR2-268 (12283 upstream) : LINC00152 (176445 downstream) NA NA NA ctgctgggtcctagagcctgt 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.87578441C>T NA hg19 0.02 -0.403521 GTCxTAG COVERED NOVEL 0 2 2.708822 KEEP 18 0 0 9 329 CC 0.99257 0.927549 0 5 24 149 0 0 10.422338 41 47 1438 114 0.108696 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 87586115 87586115 __UNKNOWN__ IGR SNP C C T rs12151649 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:87586115C>T NA NA IGKV3OR2-268 (19957 upstream) : LINC00152 (168771 downstream) NA NA NA catttgagtccaggagttgac 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.87586115C>T NA hg19 0.02 -0.18421 GTCxAGG UNCOVERED NOVEL 0 9 3.009867 KEEP 22 0 0 10 356 CC 0 0 0 3 49 87 0 0 6.692103 14 60 463 62 0.176471 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 87623822 87623822 __UNKNOWN__ IGR SNP C C A rs111207305 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:87623822C>A NA NA IGKV3OR2-268 (57664 upstream) : LINC00152 (131064 downstream) NA NA NA agccacccagccagccaagcc 0.697 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.87623822C>A NA hg19 0.02 1.526216 CAGxCAG COVERED NOVEL 0 12 2.963722 KEEP 3 0 0 10 316 CC 0.992708 0.963741 0 4 36 118 0 0 8.259135 32 60 1062 103 0.111111 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 87627328 87627328 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:87627328T>C NA NA IGKV3OR2-268 (61170 upstream) : LINC00152 (127558 downstream) NA NA NA gagccaagattgcaccactgc 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.87627328T>C NA hg19 0.02 -0.324455 GATxGCA COVERED NOVEL 0 7 2.992468 KEEP 3 0 0 10 273 TT 0.99257 0.829507 0 3 47 94 0 0 6.510426 29 60 821 61 0.09375 0.835716 IGKV1-5 28299 __UNKNOWN__ __UNKNOWN__ 2 89247232 89247232 __UNKNOWN__ RNA SNP T T A rs558374781 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:89247232T>A ENST00000496168.1 - 0 236 P01602 KV110_HUMAN immunoglobulin kappa variable 1-5 NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) antigen binding (GO:0003823) NA AGTGTTCTCCTTCCTTACCTG 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 148 142 144 NA NA NA 2 NA NA 89247232 1200 2509 3709 Z00001 2p11.2 2012-02-08 ENSG00000243466 ENSG00000243466 28299 Immunoglobulins / IGK locus 5741 other immunoglobulin gene NA Standard NG_000834 NG_000834 NA Approved P01602 OTTHUMG00000151560 ENST00000496168.1: chr2.hg19:g.89247232T>A NA hg19 0.02 1.436088 TCCxTCC COVERED NOVEL IGKV1-5-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000323135.1 0 7.450638 KEEP 4 1 17 31 984 TT 0.999997 0.967423 0 - 4 34 120 0 0 7.824939 47 60 1435 126 ENST00000496168.1 0.078431 0.967425 IGKV2D-26 28884 __UNKNOWN__ __UNKNOWN__ 2 90025227 90025227 __UNKNOWN__ RNA SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90025227C>G ENST00000390268.2 + 0 105 immunoglobulin kappa variable 2D-26 NA NA NA TTGTGATGACCCAGACTCCAC 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA X12689 2p11.2 2012-02-08 ENSG00000211623 ENSG00000211623 28884 Immunoglobulins / IGK locus 5798 other immunoglobulin gene NA Standard NG_000833 NG_000833 NA Approved OTTHUMG00000151606 ENST00000390268.2: chr2.hg19:g.90025227C>G NA hg19 0.02 1.620774 GACxCAG COVERED NOVEL IGKV2D-26-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000323278.2 5 23.17374 KEEP 13 0 0 77 2665 CC 1 0.999962 0 + 15 50 502 0 0 39.226661 82 51 2705 281 ENST00000390268.2 0.154639 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90450071 90450071 __UNKNOWN__ IGR SNP C C T rs371814870 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90450071C>T NA NA IGKV3D-7 (175836 upstream) : CH17-132F21.1 (8129 downstream) NA NA NA CGGCTTTTTGCCCCCTGCCGC 0.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90450071C>T NA hg19 0.02 -0.19293 TTGxCCC UNCOVERED NOVEL 0 11 2.40527 KEEP 5 0 0 8 264 CC 0 0 0 3 27 86 0 0 6.772867 12 60 379 48 0.2 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90468263 90468263 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90468263G>A NA NA CH17-132F21.1 (9592 upstream) : RP11-685N3.1 (69575 downstream) NA NA NA gggcgtggtggctcacccctg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90468263G>A NA hg19 0.02 1.25994 GTGxCTC COVERED NOVEL 0 19 3.610781 KEEP 14 0 0 12 412 GG 0.99254 0.982161 0 5 59 132 0 0 8.594676 44 60 1436 117 0.102041 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90468280 90468280 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90468280T>C NA NA CH17-132F21.1 (9609 upstream) : RP11-685N3.1 (69558 downstream) NA NA NA cctgtaatcctagcactttgg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90468280T>C NA hg19 0.02 1.710345 TCCxAGC COVERED NOVEL 0 21 5.113444 KEEP 16 0 0 17 490 TT 0.994391 0.988844 0 5 58 168 0 0 11.792539 53 60 1454 132 0.086207 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90473598 90473598 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90473598A>G NA NA CH17-132F21.1 (14927 upstream) : RP11-685N3.1 (64240 downstream) NA NA NA tgttgcccagactggtcttga 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90473598A>G NA hg19 0.02 1.625541 CAGxCTG COVERED NOVEL 0 29 3.603848 KEEP 22 0 0 12 350 AA 0.99257 0.992298 0 9 33 307 0 0 22.676422 73 55 2196 156 0.109756 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90479130 90479130 __UNKNOWN__ IGR SNP G G A rs375562085 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90479130G>A NA NA CH17-132F21.1 (20459 upstream) : RP11-685N3.1 (58708 downstream) NA NA NA gtttcaccatgttggccaggc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90479130G>A NA hg19 0.02 1.233659 CATxTTG COVERED NOVEL 0 30 2.994067 KEEP 4 0 0 10 326 GG 0.993072 0.987533 0 15 60 400 0 0 33.1851 40 60 1263 101 0.272727 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90479517 90479517 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90479517T>C NA NA CH17-132F21.1 (20846 upstream) : RP11-685N3.1 (58321 downstream) NA NA NA accatgttggtcaggctggtc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90479517T>C NA hg19 0.02 3.242743 TGGxCAG COVERED NOVEL 0 17 5.716134 KEEP 7 0 0 19 569 TT 0.99986 0.999849 0 7 60 216 0 0 13.844451 96 60 2639 185 0.067961 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90479603 90479603 __UNKNOWN__ IGR SNP C C T rs60263454 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90479603C>T NA NA CH17-132F21.1 (20932 upstream) : RP11-685N3.1 (58235 downstream) NA NA NA ccaccacgcccggccctattt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90479603C>T NA hg19 0.02 4.706949 GCCxGGC COVERED NOVEL 0 41 3.534253 KEEP 8 1 32 23 776 CC 0.999909 0.999909 0 7 40 212 0 0 12.193448 147 60 4713 286 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90479629 90479629 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90479629A>T NA NA CH17-132F21.1 (20958 upstream) : RP11-685N3.1 (58209 downstream) NA NA NA gtatatttagaagagacgggg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90479629A>T NA hg19 0.02 2.701486 TAGxAGA COVERED NOVEL 0 32 6.017024 KEEP 4 0 0 20 600 AA 0.999863 0.999831 0 6 49 177 1 0 11.001799 84 60 2352 181 0.066667 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90480097 90480097 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:90480097C>A NA NA CH17-132F21.1 (21426 upstream) : RP11-685N3.1 (57741 downstream) NA NA NA tgtgccaccacgcccagctaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90480097C>A NA hg19 0.02 1.582615 CCAxGCC COVERED NOVEL 0 22 2.7085 KEEP 2 0 0 9 308 CC 0.99254 0.97682 0 4 60 124 1 0 8.228666 47 60 1437 86 0.078431 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91670411 91670411 __UNKNOWN__ IGR SNP C C T rs372571940 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91670411C>T NA NA None (None upstream) : RP11-575H3.1 (97981 downstream) NA NA NA TTTTACCCCACGCCGCCGCAG 0.701 NA c||| 466 0.0930511 0.1301 0.0692 5008 , , NA 3712 0.0526 NA 0.0994 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91670411C>T NA hg19 0.02 1.269451 CCAxGCC COVERED NOVEL 0 1 3.611054 KEEP 0 0 0 12 400 CC 0.993634 0.990815 0 6 60 154 0 0 9.474884 62 60 2011 132 0.088235 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91691078 91691078 __UNKNOWN__ IGR SNP A A G rs79004210|rs2558063 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91691078A>G NA NA None (None upstream) : RP11-575H3.1 (77314 downstream) NA NA NA aaaaaaaaGCATCATTATCAT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91691078A>G NA hg19 0.02 -0.41995 AGCxTCA COVERED NOVEL 0 17 4.508923 KEEP 0 0 0 15 427 AA 0.99649 0.945073 0 4 39 130 0 0 9.137529 39 60 1094 83 0.093023 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91705766 91705766 __UNKNOWN__ IGR SNP C C G rs374486710 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91705766C>G NA NA None (None upstream) : RP11-575H3.1 (62626 downstream) NA NA NA ccaggctggtctAttttattt 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91705766C>G NA hg19 0.02 -0.236701 GGTxTAT UNCOVERED NOVEL 0 8 2.708818 KEEP 17 0 0 9 315 CC 0 0 0 3 48 102 0 0 7.765607 20 50 647 70 0.130435 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91705793 91705793 __UNKNOWN__ IGR SNP G G C rs113279276 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91705793G>C NA NA None (None upstream) : RP11-575H3.1 (62599 downstream) NA NA NA ttctgagatggagtctcgccc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91705793G>C NA hg19 0.02 -0.236864 ATGxAGT UNCOVERED NOVEL 0 11 2.708881 KEEP 21 0 0 9 321 AG 0 0 0 3 27 104 0 0 7.905054 21 50 719 80 0.125 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91719933 91719933 __UNKNOWN__ IGR SNP T T G rs370007209 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91719933T>G NA NA None (None upstream) : RP11-575H3.1 (48459 downstream) NA NA NA gcctgtcatctcagcactttg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91719933T>G NA hg19 0.02 1.695658 ATCxCAG COVERED NOVEL 0 13 2.643599 KEEP 13 1 35 21 674 TT 0.999859 0.999177 0 7 48 233 0 0 16.541433 68 50 2094 178 0.093333 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91720002 91720002 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91720002C>T NA NA None (None upstream) : RP11-575H3.1 (48390 downstream) NA NA NA atggtgaaaccctgtctcaac 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91720002C>T NA hg19 0.02 1.265965 AACxCTG COVERED NOVEL 0 14 2.643511 KEEP 37 1 32 20 705 CC 0.995343 0.959286 0 5 46 139 0 1 9.478527 40 48 1277 113 0.111111 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91760163 91760163 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91760163T>C NA NA None (None upstream) : RP11-575H3.1 (8229 downstream) NA NA NA ctctgcctcctgggttcaagc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91760163T>C NA hg19 0.02 -0.289401 TCCxGGG COVERED NOVEL 0 9 3.00907 KEEP 0 0 0 10 316 TT 0.992708 0.755338 0 3 60 97 0 0 6.992935 25 60 740 62 0.107143 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91760361 91760361 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91760361C>T NA NA None (None upstream) : RP11-575H3.1 (8031 downstream) NA NA NA ggattacaggcgtgagccacc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91760361C>T NA hg19 0.02 1.157807 AGGxGTG COVERED NOVEL 0 18 2.708276 KEEP 2 0 0 9 297 CC 0.99254 0.99246 0 5 60 138 0 0 8.140245 73 60 2365 156 0.064103 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91760372 91760372 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91760372A>G NA NA None (None upstream) : RP11-575H3.1 (8020 downstream) NA NA NA gtgagccaccacacctggccC 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91760372A>G NA hg19 0.02 1.5174 ACCxCAC COVERED NOVEL 0 16 2.702787 KEEP 2 0 0 9 250 AA 0.99254 0.992346 0 5 60 168 0 0 11.242834 69 60 1931 145 0.067568 0.999804 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91767384 91767384 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91767384C>T NA NA None (None upstream) : RP11-575H3.1 (1008 downstream) NA NA NA TTCTGCCTCCCTACAGATCAC 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91767384C>T NA hg19 0.02 7.395339 TCCxTAC COVERED NOVEL 0 7 4.479914 KEEP 27 5 166 73 2633 CC 1 1 0 30 60 894 0 0 61.816589 261 60 8863 602 0.103093 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91771631 91771631 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91771631A>C NA NA RP11-575H3.1 (2711 upstream) : AC027612.6 (33554 downstream) NA NA NA ctctgtcaccaaggctggagt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91771631A>C NA hg19 0.02 1.848031 ACCxAGG COVERED NOVEL 0 21 3.911986 KEEP 1 0 0 13 414 AA 0.994391 0.992601 0 4 60 136 1 0 9.071059 58 60 1706 123 0.064516 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91771677 91771677 __UNKNOWN__ IGR SNP C C T rs2936283 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91771677C>T NA NA RP11-575H3.1 (2757 upstream) : AC027612.6 (33508 downstream) NA NA NA aaacctggacctcccaggctc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91771677C>T NA hg19 0.02 1.435286 GACxTCC COVERED NOVEL 0 37 6.019813 KEEP 3 0 0 20 730 CC 0.999863 0.99954 0 8 60 238 0 0 16.667039 65 60 2164 145 0.109589 0.999678 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91771882 91771882 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91771882T>C NA NA RP11-575H3.1 (2962 upstream) : AC027612.6 (33303 downstream) NA NA NA tcctgagtagttgggattaca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91771882T>C NA hg19 0.02 2.014662 TAGxTGG COVERED NOVEL 0 9 2.708121 KEEP 1 0 0 9 277 TT 0.99254 0.9667 0 4 60 142 0 0 10.09395 45 60 1319 84 0.081633 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91775391 91775391 __UNKNOWN__ IGR SNP T T A rs2558084 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91775391T>A NA NA RP11-575H3.1 (6471 upstream) : AC027612.6 (29794 downstream) NA NA NA ggtaggaggatggcttgagcc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91775391T>A NA hg19 0.02 1.51144 GGAxGGC COVERED NOVEL 0 22 4.208886 KEEP 7 0 0 14 414 TT 0.994391 0.988844 0 17 60 506 1 0 44.104141 37 60 1069 119 0.314815 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91775393 91775393 __UNKNOWN__ IGR SNP G G C rs2647774 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91775393G>C NA NA RP11-575H3.1 (6473 upstream) : AC027612.6 (29792 downstream) NA NA NA taggaggatggcttgagccca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91775393G>C NA hg19 0.02 1.88296 ATGxCTT COVERED NOVEL 0 24 4.213614 KEEP 6 0 0 14 491 GG 0.994391 0.991133 0 7 60 232 1 0 17.323117 50 60 1693 123 0.122807 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91780692 91780692 __UNKNOWN__ IGR SNP A A G rs72929507 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91780692A>G NA NA RP11-575H3.1 (11772 upstream) : AC027612.6 (24493 downstream) NA NA NA attttttagtagagacagtgt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91780692A>G NA hg19 0.02 -0.368284 AGTxGAG COVERED NOVEL 0 10 2.406791 KEEP 1 0 0 8 236 AA 0.99257 0.892632 0 5 60 173 0 0 13.521707 29 60 826 64 0.147059 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91782744 91782744 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91782744C>T NA NA RP11-575H3.1 (13824 upstream) : AC027612.6 (22441 downstream) NA NA NA accccgtctccactaaaaata 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91782744C>T NA hg19 0.02 -0.289411 CTCxACT UNCOVERED NOVEL 0 9 2.407968 KEEP 5 0 0 8 293 CC 0 0 0 4 60 104 0 0 7.262299 25 60 825 54 0.137931 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91788480 91788480 __UNKNOWN__ IGR SNP C C A rs4459139 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91788480C>A NA NA RP11-575H3.1 (19560 upstream) : AC027612.6 (16705 downstream) NA NA NA gctgggattacatatgtgagc 0.473 NA C||| 17 0.00339457 8e-04 0.0058 5008 , , NA 79789 0.004 NA 0.002 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91788480C>A NA hg19 0.02 1.284748 TTAxATA COVERED NOVEL 0 9 5.116375 KEEP 1 0 0 17 598 CC 0.999366 0.983538 0 4 60 117 0 0 7.597724 45 60 1536 116 0.081633 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91793340 91793340 __UNKNOWN__ IGR SNP C C T rs2531516 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91793340C>T NA NA RP11-575H3.1 (24420 upstream) : AC027612.6 (11845 downstream) NA NA NA cgtgaggcaccgcgcctggcc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91793340C>T NA hg19 0.02 1.130045 CACxGCG COVERED NOVEL 0 19 4.213138 KEEP 0 0 0 14 462 CC 0.995343 0.99507 0 12 60 334 0 0 24.622982 66 60 2092 129 0.153846 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91796987 91796987 __UNKNOWN__ IGR SNP G G T rs61577352 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91796987G>T NA NA RP11-575H3.1 (28067 upstream) : AC027612.6 (8198 downstream) NA NA NA tggccaggctggtctccaact 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91796987G>T NA hg19 0.02 1.175378 GCTxGTC COVERED NOVEL 0 20 3.00949 KEEP 1 0 0 10 338 GG 0.992708 0.992603 0 11 60 305 0 0 21.544518 74 60 2484 139 0.129412 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91797461 91797461 __UNKNOWN__ IGR SNP G G A rs2262075 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91797461G>A NA NA RP11-575H3.1 (28541 upstream) : AC027612.6 (7724 downstream) NA NA NA ggcaacaaagggagaccccag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91797461G>A NA hg19 0.02 3.251983 AAGxGAG COVERED NOVEL 0 30 4.814251 KEEP 0 0 0 16 520 GG 0.997832 0.997821 0 12 60 359 0 0 26.539811 74 60 2400 182 0.139535 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91797996 91797996 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91797996C>T NA NA RP11-575H3.1 (29076 upstream) : AC027612.6 (7189 downstream) NA NA NA gctgggattacaggcatgagc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91797996C>T NA hg19 0.02 1.076361 TTAxAGG COVERED NOVEL 0 21 5.417781 KEEP 0 0 0 18 645 CC 0.999859 0.999754 0 9 60 251 0 0 17.290347 69 60 2367 161 0.115385 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91800191 91800191 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91800191C>A NA NA RP11-575H3.1 (31271 upstream) : AC027612.6 (4994 downstream) NA NA NA GCACCACCATCTCCCACGGGA 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91800191C>A NA hg19 0.02 3.87212 CATxTCC COVERED NOVEL 0 5 3.750409 KEEP 0 4 121 55 1969 CC 1 1 0 10 60 287 0 0 17.007151 159 60 5385 337 0.059172 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91801532 91801532 __UNKNOWN__ IGR SNP C C T rs9326642 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91801532C>T NA NA RP11-575H3.1 (32612 upstream) : AC027612.6 (3653 downstream) NA NA NA gagggtcacgccccattgccc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91801532C>T NA hg19 0.02 -0.429238 ACGxCCC COVERED NOVEL 0 18 3.009538 KEEP 0 0 0 10 345 CC 0.992708 0.947531 0 8 60 231 0 0 18.233881 32 60 1047 82 0.2 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91802013 91802013 __UNKNOWN__ IGR SNP G G A rs11240845 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91802013G>A NA NA RP11-575H3.1 (33093 upstream) : AC027612.6 (3172 downstream) NA NA NA tcactgtgctgcccaggcttg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91802013G>A NA hg19 0.02 0.871827 GCTxCCC COVERED NOVEL 0 42 4.815028 KEEP 1 0 0 16 559 GG 0.997832 0.997739 0 5 60 141 0 0 8.584573 68 60 2277 135 0.068493 0.999907 AC027612.6 0 __UNKNOWN__ __UNKNOWN__ 2 91805319 91805319 __UNKNOWN__ RNA SNP C C T rs232173|rs386648319 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91805319C>T ENST00000609777.1 - 0 1060 NA NA NA aggttattctcatctggcaaa 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000609777.1: chr2.hg19:g.91805319C>T NA hg19 0.02 1.383478 TCTxATC COVERED NOVEL AC027612.6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000471986.1 1 3.611518 KEEP 0 0 0 12 409 CC 0.993634 0.977896 0 - 11 60 310 1 0 24.204237 45 60 1438 95 ENST00000609777.1 0.196429 0.984161 AC027612.6 0 __UNKNOWN__ __UNKNOWN__ 2 91805444 91805444 __UNKNOWN__ RNA SNP G G A rs12612073 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91805444G>A ENST00000609777.1 - 0 935 NA NA NA aagtgaatttgtggagtatta 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000609777.1: chr2.hg19:g.91805444G>A NA hg19 0.02 0.869246 TTTxTGG COVERED NOVEL AC027612.6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000471986.1 1 3.310991 KEEP 12 0 0 11 409 GG 0.992708 0.992199 0 - 5 42 136 0 0 7.79806 78 60 2654 153 ENST00000609777.1 0.060241 0.999487 AC027612.6 0 __UNKNOWN__ __UNKNOWN__ 2 91834475 91834475 __UNKNOWN__ RNA SNP C C T rs537377929 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91834475C>T ENST00000609777.1 - 0 199 NA NA NA gaggctgaggcgggtggatca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000609777.1: chr2.hg19:g.91834475C>T NA hg19 0.02 1.643011 AGGxGGG COVERED NOVEL AC027612.6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000471986.1 11 3.610007 KEEP 7 0 0 12 408 CC 0.993634 0.957638 0 - 4 33 127 1 0 8.710257 42 60 1374 109 ENST00000609777.1 0.086957 0.963774 AC027612.6 0 __UNKNOWN__ __UNKNOWN__ 2 91840628 91840628 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91840628A>G ENST00000609777.1 - 0 199 NA NA NA ggtggctcacacctgtaatcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000609777.1: chr2.hg19:g.91840628A>G NA hg19 0.02 -0.350746 CACxCCT UNCOVERED NOVEL AC027612.6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000471986.1 13 2.407095 KEEP 17 0 0 8 245 AA 0 0 0 - 3 49 99 0 0 6.776372 35 51 1016 94 ENST00000609777.1 0.078947 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91905171 91905171 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91905171A>G NA NA AC027612.3 (5035 upstream) : AC027612.2 (46779 downstream) NA NA NA cacccaggctagagtgcagtg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91905171A>G NA hg19 0.02 -0.131556 GCTxGAG COVERED NOVEL 0 1 2.370674 KEEP 1 0 0 8 206 AA 0.99257 0.22747 0 3 40 100 0 0 8.382143 10 60 288 36 0.230769 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91917407 91917407 __UNKNOWN__ IGR SNP A A G rs112291559 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91917407A>G NA NA AC027612.3 (17271 upstream) : AC027612.2 (34543 downstream) NA NA NA cctgggcaacagaatgagacc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91917407A>G NA hg19 0.02 1.757108 AACxGAA COVERED NOVEL 0 29 4.213013 KEEP 3 0 0 14 448 AA 0.993634 0.991202 0 6 49 201 0 0 15.169907 41 60 1212 121 0.12766 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91977656 91977656 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:91977656T>C NA NA AC027612.2 (25612 upstream) : SLC9B1P2 (102841 downstream) NA NA NA tctcagctacttgggaggctg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91977656T>C NA hg19 0.02 -0.149111 TACxTGG UNCOVERED NOVEL 0 16 4.512536 KEEP 38 0 0 15 463 TT 0 0 0 3 20 105 0 1 9.001228 9 40 267 78 0.25 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92186799 92186799 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92186799G>A NA NA SLC9B1P2 (84561 upstream) : None (None downstream) NA NA NA AGGTCATGAAGGGGGCTGATG 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92186799G>A NA hg19 0.02 1.350819 GAAxGGG COVERED NOVEL 0 2 6.320901 KEEP 9 0 0 21 774 GG 0.999859 0.997757 0 11 40 334 0 0 25.215115 62 60 2116 139 0.150685 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92186801 92186801 __UNKNOWN__ IGR SNP G G T rs74328916 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92186801G>T NA NA SLC9B1P2 (84563 upstream) : None (None downstream) NA NA NA GTCATGAAGGGGGCTGATGAC 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92186801G>T NA hg19 0.02 1.4237 AGGxGGC COVERED NOVEL 0 2 3.741302 KEEP 9 1 24 21 710 GG 0.99986 0.998555 0 11 40 309 0 0 22.512993 65 60 2168 145 0.144737 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92241652 92241652 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92241652C>T NA NA SLC9B1P2 (139414 upstream) : None (None downstream) NA NA NA ccctcccttcctttctccctc 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92241652C>T NA hg19 0.02 -0.227962 TTCxTTT UNCOVERED NOVEL 0 24 3.009914 KEEP 35 0 0 10 366 CC 0 0 0 3 33 89 0 0 6.893201 14 51 434 92 0.176471 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92307391 92307391 __UNKNOWN__ IGR SNP T T G rs4120029 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92307391T>G NA NA SLC9B1P2 (205153 upstream) : None (None downstream) NA NA NA tgaaacactctttttgtggaa 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92307391T>G NA hg19 0.02 3.408806 CTCxTTT COVERED NOVEL 0 79 34.964318 KEEP 424 5 180 179 5710 TT 1 0.999999 0 6 22 199 2 0 13.318195 80 40 2397 887 0.069767 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92312939 92312939 __UNKNOWN__ IGR SNP G G C rs147349519 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92312939G>C NA NA SLC9B1P2 (210701 upstream) : None (None downstream) NA NA NA tgtgatgtgcgccctcaacta 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92312939G>C NA hg19 0.02 1.581519 TGCxCCC COVERED NOVEL 0 16 11.133788 KEEP 18 0 0 37 1214 GG 0.999998 0.984159 0 4 37 121 0 0 8.035441 44 49 1417 144 0.083333 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92318660 92318660 __UNKNOWN__ IGR SNP C C A rs77652061 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92318660C>A NA NA SLC9B1P2 (216422 upstream) : None (None downstream) NA NA NA aacgggattacatataaaaag 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92318660C>A NA hg19 0.02 -0.385977 TTAxATA COVERED NOVEL 0 7 2.242602 KEEP 22 1 33 19 676 CC 0.995343 0.922325 0 4 59 123 1 0 9.033546 27 60 927 130 0.129032 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92318661 92318661 __UNKNOWN__ IGR SNP A A T rs4097608 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92318661A>T NA NA SLC9B1P2 (216423 upstream) : None (None downstream) NA NA NA acgggattacatataaaaagc 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92318661A>T NA hg19 0.02 -0.377142 TACxTAT COVERED NOVEL 0 7 5.415245 KEEP 22 0 0 18 554 AG 0.995343 0.922325 0 5 60 144 1 0 10.76582 27 60 823 130 0.15625 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92321103 92321103 __UNKNOWN__ IGR SNP C C G rs139515149 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92321103C>G NA NA SLC9B1P2 (218865 upstream) : None (None downstream) NA NA NA attcaagtcacagagttgaac 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92321103C>G NA hg19 0.02 -0.333015 TCAxAGA COVERED NOVEL 0 10 3.611574 KEEP 9 0 0 12 413 CT 0.993634 0.84656 0 3 46 97 0 0 6.94439 26 49 845 75 0.103448 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92325152 92325152 __UNKNOWN__ IGR SNP T T G rs4113044 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92325152T>G NA NA SLC9B1P2 (222914 upstream) : None (None downstream) NA NA NA tctcagaagcttcattgggat 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92325152T>G NA hg19 0.02 3.795185 AGCxTCA COVERED NOVEL 0 16 23.835457 KEEP 185 2 68 103 3292 TT 1 0.999995 0 6 21 196 0 0 12.927675 83 40 2426 450 0.067416 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92325239 92325239 __UNKNOWN__ IGR SNP A A T rs11491325 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:92325239A>T NA NA SLC9B1P2 (223001 upstream) : None (None downstream) NA NA NA agtatctggaagtggacattt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92325239A>T NA hg19 0.02 1.401355 GGAxGTG COVERED NOVEL 0 13 19.382098 KEEP 176 1 33 76 2419 AA 0.999999 0.979525 0 4 20 119 0 0 8.214055 35 40 973 390 0.102564 0.979526 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 95733717 95733717 __UNKNOWN__ IGR SNP C C T rs6723333 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:95733717C>T NA NA MAL (13980 upstream) : MRPS5 (19234 downstream) NA NA NA cctcagcctcccaaagtgctg 0.488 NA C||| 3955 0.789736 0.8759 0.8674 5008 , , NA 16086 0.6905 NA 0.7644 False NA ,,, NA NA NA 2504 0.7464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.95733717C>T NA hg19 0.02 -0.149121 CTCxCAA UNCOVERED NOVEL 0 31 2.407989 KEEP 33 0 0 8 294 CC 0 0 0 8 60 246 0 0 24.65331 5 60 170 71 0.615385 0.292001 MRPS5 64969 __UNKNOWN__ __UNKNOWN__ 2 95806167 95806167 __UNKNOWN__ Intron SNP C C G rs3105102 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:95806167C>G ENST00000475040.1 - 1 550 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 NA NA translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 gagtttgagaccagcctggcc 0.517 NA C||| 3939 0.786542 0.8759 0.8631 5008 , , NA 13043 0.6766 NA 0.7644 False NA ,,, NA NA NA 2504 0.7474 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB049940 CCDS2010.1 2p11.2-q11.2 2012-09-13 ENSG00000144029 ENSG00000144029 64969 Mitochondrial ribosomal proteins / small subunits 14498 protein-coding gene gene with protein product mitochondrial 28S ribosomal protein S5 611972 NA Standard NM_031902 NM_031902 NA Approved MRP-S5, S5mt uc002sub.3 P82675 OTTHUMG00000130394 ENST00000475040.1:c.163+8462G>C chr2.hg19:g.95806167C>G NA Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4 hg19 0.02 -0.08717 AGAxCAG UNCOVERED NOVEL MRPS5-005 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000338606.1 10 2.407889 KEEP 5 0 0 8 284 CC 0 0 0 - 3 60 106 0 0 9.748921 5 60 139 28 ENST00000475040.1 0.375 0.120436 TRIM43 129868 __UNKNOWN__ __UNKNOWN__ 2 96259647 96259647 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:96259647T>G ENST00000272395.2 + 2 132 NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 NA NA intracellular (GO:0005622) zinc ion binding (GO:0008270) breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 TCATTGCAGATTAAAGCCTAT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BK000505 CCDS2015.1 2q11 2014-02-17 2011-01-25 ENSG00000144015 ENSG00000144015 129868 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 19015 protein-coding gene gene with protein product tripartite motif-containing 43 NA Standard NM_138800 NM_138800 NA Approved TRIM43A uc002suv.3 Q96BQ3 OTTHUMG00000130401 ENST00000272395.2:c.-4-121T>G chr2.hg19:g.96259647T>G NA Q53TJ7 hg19 CCDS2015.1 0.02 -0.306945 AGAxTAA COVERED NOVEL TRIM43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252784.1 3 6.917509 KEEP 0 0 0 23 656 TT 0.999892 0.800159 0 + 8 60 264 0 0 22.048247 27 60 765 69 ENST00000272395.2 0.228571 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 96687684 96687684 __UNKNOWN__ IGR SNP A A G rs2918924 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:96687684A>G NA NA FAHD2CP (102 upstream) : GPAT2 (9 downstream) NA NA NA ACACACATACACCAAAAAGAT 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.96687684A>G NA hg19 0.02 3.719368 TACxCCA COVERED NOVEL 0 7 38.232838 KEEP 0 1 31 138 4078 AA 1 1 0 7 33 246 0 0 16.132117 122 60 3567 360 0.054264 1 SNRNP200 23020 __UNKNOWN__ __UNKNOWN__ 2 96942359 96942359 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:96942359T>C ENST00000323853.5 - 43 6252 SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) NA NA ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 ggggtttcactatgttggcca 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL831994 CCDS2020.1 2q11.2 2013-05-13 2008-10-29 2008-10-29 ENSG00000144028 ENSG00000144028 23020 30859 protein-coding gene gene with protein product U5 snRNP specific protein, 200 KD 601664 activating signal cointegrator 1 complex subunit 3-like 1, retinitis pigmentosa 33 (autosomal dominant) ASCC3L1, RP33 NA 9872452, 8670905, 9774689, 9539711, 16612614, 19878916 Standard NM_014014 NM_014014 NA Approved U5-200KD, HELIC2, KIAA0788, BRR2 uc002svu.3 O75643 OTTHUMG00000130455 ENST00000323853.5:c.6174+282A>G chr2.hg19:g.96942359T>C NA O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0 hg19 CCDS2020.1 0.02 1.421124 CACxATG COVERED NOVEL SNRNP200-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252846.2 1 11.731561 KEEP 2 0 0 39 1145 TT 1 0.993703 0 - 4 40 125 0 0 8.002426 57 60 1622 109 ENST00000323853.5 0.065574 0.993703 SNRNP200 23020 __UNKNOWN__ __UNKNOWN__ 2 96942437 96942437 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:96942437C>T ENST00000323853.5 - 43 6252 SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) NA NA ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 ggattacaggcgtgagccact 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL831994 CCDS2020.1 2q11.2 2013-05-13 2008-10-29 2008-10-29 ENSG00000144028 ENSG00000144028 23020 30859 protein-coding gene gene with protein product U5 snRNP specific protein, 200 KD 601664 activating signal cointegrator 1 complex subunit 3-like 1, retinitis pigmentosa 33 (autosomal dominant) ASCC3L1, RP33 NA 9872452, 8670905, 9774689, 9539711, 16612614, 19878916 Standard NM_014014 NM_014014 NA Approved U5-200KD, HELIC2, KIAA0788, BRR2 uc002svu.3 O75643 OTTHUMG00000130455 ENST00000323853.5:c.6174+204G>A chr2.hg19:g.96942437C>T NA O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0 hg19 CCDS2020.1 0.02 5.865555 AGGxGTG COVERED NOVEL SNRNP200-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252846.2 21 30.064854 KEEP 4 2 51 118 4197 CC 1 1 0 - 8 60 237 1 0 12.837514 199 60 6677 489 ENST00000323853.5 0.038647 1 SNRNP200 23020 __UNKNOWN__ __UNKNOWN__ 2 96942447 96942447 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:96942447T>C ENST00000323853.5 - 43 6252 SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) NA NA ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 cgtgagccactgcgcccggcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL831994 CCDS2020.1 2q11.2 2013-05-13 2008-10-29 2008-10-29 ENSG00000144028 ENSG00000144028 23020 30859 protein-coding gene gene with protein product U5 snRNP specific protein, 200 KD 601664 activating signal cointegrator 1 complex subunit 3-like 1, retinitis pigmentosa 33 (autosomal dominant) ASCC3L1, RP33 NA 9872452, 8670905, 9774689, 9539711, 16612614, 19878916 Standard NM_014014 NM_014014 NA Approved U5-200KD, HELIC2, KIAA0788, BRR2 uc002svu.3 O75643 OTTHUMG00000130455 ENST00000323853.5:c.6174+194A>G chr2.hg19:g.96942447T>C NA O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0 hg19 CCDS2020.1 0.02 7.196041 CACxGCG COVERED NOVEL SNRNP200-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252846.2 26 39.977153 KEEP 4 0 0 133 4051 TT 1 1 0 - 14 60 421 0 0 26.625048 202 70 6026 523 ENST00000323853.5 0.064815 1 ARID5A 10865 __UNKNOWN__ __UNKNOWN__ 2 97206660 97206660 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:97206660G>T ENST00000454558.2 + 1 977 ARID5A_ENST00000357485.3_Intron Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) NA NA chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|DNA binding (GO:0003677) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 ttttgtatttgtagtggagat 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M62324 CCDS33251.1 2p11.1 2013-02-07 ENSG00000196843 ENSG00000196843 10865 - 17361 protein-coding gene gene with protein product modulator recognition factor 1 611583 NA 8649988 Standard NM_212481 NM_212481 NA Approved MRF-1, RP11-363D14 uc002swe.3 Q03989 OTTHUMG00000155229 ENST00000454558.2:c.-201+2602G>T chr2.hg19:g.97206660G>T NA Q6NX37 hg19 0.02 -0.096457 TTTxTAG UNCOVERED NOVEL ARID5A-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000338891.3 7 2.407831 KEEP 0 0 0 8 283 GG 0.99257 0.119541 0 + 4 60 104 0 0 9.62133 5 60 160 21 ENST00000454558.2 0.444444 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 97311925 97311925 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:97311925T>C NA NA KANSL3 (7810 upstream) : FER1L5 (24029 downstream) NA NA NA ttagtagagatggggtttcac 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.97311925T>C NA hg19 0.02 -0.289326 AGAxGGG COVERED NOVEL 0 4 4.51124 KEEP 2 0 0 15 422 TT 0.995343 0.757343 0 5 60 154 0 0 11.918256 25 60 688 57 0.166667 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 97317524 97317524 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:97317524A>G NA NA KANSL3 (13409 upstream) : FER1L5 (18430 downstream) NA NA NA gattacaggcatgagccactc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.97317524A>G NA hg19 0.02 1.578622 GGCxTGA COVERED NOVEL 0 10 4.381242 KEEP 1 2 70 39 1205 AA 1 0.999317 0 6 60 191 0 0 12.749228 73 60 2184 160 0.075949 0.999317 CNNM4 26504 __UNKNOWN__ __UNKNOWN__ 2 97463948 97463948 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:97463948C>A ENST00000377075.2 + 3 1779 CNNM4_ENST00000496186.1_Intron|CNNM4_ENST00000540067.1_Intron NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin and CBS domain divalent metal cation transport mediator 4 NA NA biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554) breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 cagcctgggccacagaacaag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046812 CCDS2024.2 2q11.2 2014-08-08 2014-08-07 ENSG00000158158 ENSG00000158158 26504 105 protein-coding gene gene with protein product 607805 cyclin M4 ACDP4 NA 21393841, 24194943 Standard NM_020184 XM_005263914 NA Approved KIAA1592 uc002swx.3 Q6P4Q7 OTTHUMG00000130532 ENST00000377075.2:c.1681+564C>A chr2.hg19:g.97463948C>A NA B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1 hg19 CCDS2024.2 0.02 1.228114 GGCxACA COVERED NOVEL CNNM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252954.1 8 7.959664 KEEP 0 1 30 37 1274 CC 1 0.999804 0 + 5 60 151 0 0 9.317861 77 60 2565 173 ENST00000377075.2 0.060976 0.999804 ANKRD39 51239 __UNKNOWN__ __UNKNOWN__ 2 97514312 97514312 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:97514312T>C ENST00000393537.4 - 4 516 NM_016466.5 NP_057550.3 Q53RE8 ANR39_HUMAN ankyrin repeat domain 39 NA NA NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 6 gcctgtaatctcagcactttg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031303 CCDS2028.1 2q11.2 2013-01-10 ENSG00000213337 ENSG00000213337 51239 Ankyrin repeat domain containing 28640 protein-coding gene gene with protein product NA 11042152 Standard NM_016466 NM_016466 NA Approved MGC41816 uc002sxd.4 Q53RE8 OTTHUMG00000130530 ENST00000393537.4:c.409-131A>G chr2.hg19:g.97514312T>C NA Q59FU2|Q8N5X5|Q9P0S5 hg19 CCDS2028.1 0.02 1.809856 ATCxCAG COVERED NOVEL ANKRD39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252951.2 2 3.931013 KEEP 0 1 34 25 786 TT 0.999957 0.994379 0 - 4 60 128 0 1 8.361534 55 60 1653 110 ENST00000393537.4 0.067797 0.994422 FAHD2B 151313 __UNKNOWN__ __UNKNOWN__ 2 97749407 97749407 __UNKNOWN__ 3'UTR SNP C C T rs79549240 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:97749407C>T ENST00000414820.1 - 0 1300 FAHD2B_ENST00000272610.3_3'UTR|FAHD2B_ENST00000440566.2_3'UTR Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B NA NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 CTGGCACCTGCCCACACCTGC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2030.1 2q11.2 2012-06-29 ENSG00000144199 ENSG00000144199 151313 25318 protein-coding gene gene with protein product NA Standard NM_199336 NM_199336 NA Approved DKFZp434N062 uc002sxm.3 Q6P2I3 OTTHUMG00000130533 ENST00000414820.1:c.*85G>A chr2.hg19:g.97749407C>T NA D3DXH7|Q8NDK1 hg19 CCDS2030.1 0.02 3.752501 CTGxCCA COVERED NOVEL FAHD2B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339482.1 1 11.402197 KEEP 1 12 355 163 5541 CC 1 1 0 - 19 52 530 0 0 34.965741 178 60 5997 482 ENST00000414820.1 0.096447 1 FAHD2B 151313 __UNKNOWN__ __UNKNOWN__ 2 97749417 97749417 __UNKNOWN__ 3'UTR SNP C C T rs140620633 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:97749417C>T ENST00000414820.1 - 0 1290 FAHD2B_ENST00000272610.3_3'UTR|FAHD2B_ENST00000440566.2_3'UTR Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B NA NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 CCCACACCTGCCACTGGGCCT 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2030.1 2q11.2 2012-06-29 ENSG00000144199 ENSG00000144199 151313 25318 protein-coding gene gene with protein product NA Standard NM_199336 NM_199336 NA Approved DKFZp434N062 uc002sxm.3 Q6P2I3 OTTHUMG00000130533 ENST00000414820.1:c.*75G>A chr2.hg19:g.97749417C>T NA D3DXH7|Q8NDK1 hg19 CCDS2030.1 0.02 4.271528 CTGxCAC COVERED NOVEL FAHD2B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339482.1 1 12.507559 KEEP 0 11 334 159 5476 CC 1 1 0 - 21 60 604 0 0 41.561724 173 60 5856 468 ENST00000414820.1 0.108247 1 ANKRD36 375248 __UNKNOWN__ __UNKNOWN__ 2 97827830 97827830 __UNKNOWN__ Intron SNP T T A rs201574565 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:97827830T>A ENST00000461153.2 + 18 1633 ANKRD36_ENST00000420699.2_Intron A6QL64 AN36A_HUMAN ankyrin repeat domain 36 NA NA endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TTTTTTTTTTTAATAGGAAGG 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 14 10 11 NA NA NA 2 NA NA 97827830 691 1550 2241 SO:0001627 intron_variant BC046186 CCDS54379.1 2q11.2 2013-09-24 ENSG00000135976 ENSG00000135976 375248 Ankyrin repeat domain containing 24079 protein-coding gene gene with protein product NA 12975309 Standard NM_001164315 NA Approved UNQ2430 uc010yva.2 A6QL64 OTTHUMG00000155256 ENST00000461153.2:c.1390-6T>A chr2.hg19:g.97827830T>A NA B4E3I8|Q6UX02|Q86X62|Q9HCD1 hg19 CCDS54379.1 0.02 -0.377075 TTTxAAT COVERED NOVEL ANKRD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339154.5 3 3.911826 KEEP 3 0 0 13 406 TT 0.994391 0.90397 0 + 6 58 167 0 0 12.602925 29 60 816 93 ENST00000461153.2 0.171429 0.909069 TXNDC9 10190 __UNKNOWN__ __UNKNOWN__ 2 99951446 99951446 __UNKNOWN__ Intron SNP A A G rs373342823 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:99951446A>G ENST00000264255.3 - 1 224 TXNDC9_ENST00000434323.1_Intron|TXNDC9_ENST00000409434.1_Intron NM_005783.3 NP_005774.2 O14530 TXND9_HUMAN thioredoxin domain containing 9 NA NA cell redox homeostasis (GO:0045454) centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634) lung(1) 1 caaagtgctgagattacaggc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC005968 CCDS2044.1 2q11.2 2008-02-05 ENSG00000115514 ENSG00000115514 10190 24110 protein-coding gene gene with protein product 612564 NA 12477932 Standard NM_005783 NM_005783 NA Approved APACD uc002szz.3 O14530 OTTHUMG00000130641 ENST00000264255.3:c.31+1255T>C chr2.hg19:g.99951446A>G NA B2R9G8|D3DVI4|Q53HG4|Q53RV8|Q6NSF5|Q8TB70|Q9BRU6 hg19 CCDS2044.1 0.02 -0.201743 CTGxGAT COVERED NOVEL TXNDC9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253129.1 1 2.407658 KEEP 0 0 0 8 265 AA 0.99257 0.4869 0 - 3 40 97 0 0 7.460858 17 60 518 46 ENST00000264255.3 0.15 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 101153325 101153325 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:101153325C>T NA NA NMS (53583 upstream) : RN7SL611P (19186 downstream) NA NA NA ctcacgcctgcaatcccagca 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.101153325C>T NA hg19 0.02 -0.192994 CTGxAAT COVERED NOVEL 0 9 2.40789 KEEP 0 0 0 8 288 CC 0.99257 0.454356 0 3 60 88 0 0 6.71041 15 60 513 44 0.166667 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 101214530 101214530 __UNKNOWN__ IGR SNP T T C rs574345858 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:101214530T>C NA NA snoU13 (20511 upstream) : RN7SL360P (2797 downstream) NA NA NA tcccaaagtgttggaattaca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.101214530T>C NA hg19 0.02 -0.157876 GTGxTGG COVERED NOVEL 0 2 2.70794 KEEP 0 0 0 9 281 TT 0.99254 0.320398 0 3 60 102 0 0 8.278849 13 60 388 44 0.1875 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 101953184 101953184 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:101953184T>G NA NA MIR5696 (27188 upstream) : CREG2 (8828 downstream) NA NA NA ctcccaaagttctgggattac 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.101953184T>G NA hg19 0.02 -0.254 AGTxCTG COVERED NOVEL 0 5 2.708175 KEEP 1 0 0 9 285 TT 0.99254 0.663536 0 6 60 186 0 0 15.25776 21 60 603 57 0.222222 0.668523 MAP4K4 9448 __UNKNOWN__ __UNKNOWN__ 2 102318586 102318586 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:102318586A>G ENST00000413150.2 + 2 178 MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000324219.4_Intron|MAP4K4_ENST00000456652.1_Intron NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 NA NA intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328) cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 gcctcccaaaatgctgggatt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF096300 CCDS56130.1, CCDS74546.1 2q11.2-q12 2011-06-09 ENSG00000071054 ENSG00000071054 9448 Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases 6866 protein-coding gene gene with protein product HPK/GCK-like kinase, hepatocyte progenitor kinase-like/germinal center kinase-like kinase 604666 NA 9890973, 9734811, 9135144 Standard NM_004834 NM_004834 NA Approved HGK, NIK, FLH21957 uc002tbf.3 O95819 OTTHUMG00000155394 ENST00000413150.2:c.123+3586A>G chr2.hg19:g.102318586A>G NA O75172|Q9NST7 hg19 0.02 -0.105257 AAAxTGC UNCOVERED NOVEL MAP4K4-003 NOVEL basic protein_coding NA protein_coding OTTHUMT00000339992.2 4 2.708567 KEEP 1 0 0 9 304 AA 0.99254 0.138789 0 + 3 60 99 0 0 8.401148 9 60 275 33 ENST00000413150.2 0.25 0.139832 IL1R1 3554 __UNKNOWN__ __UNKNOWN__ 2 102793468 102793468 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:102793468A>G ENST00000410023.1 + 0 2277 IL1R1_ENST00000409589.1_Intron|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_3'UTR P14778 IL1R1_HUMAN interleukin 1 receptor, type I NA NA cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555) cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) gctcacgcctataatcccagc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M27492 CCDS2055.1, CCDS74547.1 2q12 2013-01-29 ENSG00000115594 ENSG00000115594 3554 Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5993 protein-coding gene gene with protein product 147810 IL1R, IL1RA NA 1833184, 10191101 Standard XM_005263929 NA Approved D2S1473, CD121A uc002tbr.3 P14778 OTTHUMG00000130783 ENST00000410023.1:c.*249A>G chr2.hg19:g.102793468A>G NA Q587I7 hg19 CCDS2055.1 0.02 5.581512 CCTxTAA COVERED NOVEL IL1R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253299.1 27 15.90767 KEEP 0 2 72 78 2270 AA 1 1 0 + 6 60 200 0 0 12.041811 138 60 3769 323 ENST00000410023.1 0.041667 1 C2orf49 79074 __UNKNOWN__ __UNKNOWN__ 2 105962157 105962157 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:105962157C>T ENST00000258457.2 + 0 1257 Q9BVC5 ASHWN_HUMAN chromosome 2 open reading frame 49 NA NA embryonic morphogenesis (GO:0048598) tRNA-splicing ligase complex (GO:0072669) endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 cagtggctcacgcctataatc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001310 CCDS2068.1, CCDS74550.1 2q12.2 2009-04-22 ENSG00000135974 ENSG00000135974 79074 28772 protein-coding gene gene with protein product ashwin NA 12477932 Standard NM_024093 NM_001286537 NA Approved MGC5509, asw uc002tcs.1 Q9BVC5 OTTHUMG00000130808 ENST00000258457.2:c.*329C>T chr2.hg19:g.105962157C>T NA B3KXN3|B4E2G9 hg19 CCDS2068.1 0.02 -0.297211 TCAxGCC COVERED NOVEL C2orf49-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253353.2 3 9.628022 KEEP 1 0 0 32 997 CC 0.999997 0.818463 0 + 3 60 94 1 0 6.558695 28 60 821 75 ENST00000258457.2 0.096774 0.818465 FHL2 2274 __UNKNOWN__ __UNKNOWN__ 2 105976674 105976674 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:105976674G>A ENST00000409177.1 - 0 2375 Q14192 FHL2_HUMAN four and a half LIM domains 2 NA NA androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015) actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018) androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 caggagaatcgcttgaacgcg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2070.1 2q12.2 2014-09-17 ENSG00000115641 ENSG00000115641 2274 3703 protein-coding gene gene with protein product 602633 NA 8753811 Standard NM_201557 NA Approved SLIM3, DRAL uc002tcy.3 Q14192 OTTHUMG00000153120 ENST00000409177.1:c.*1066C>T chr2.hg19:g.105976674G>A NA Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294 hg19 0.02 1.447932 ATCxCTT COVERED NOVEL FHL2-006 PUTATIVE alternative_5_UTR|downstream_ATG|basic protein_coding NA protein_coding OTTHUMT00000329659.2 6 7.221926 KEEP 0 0 0 24 765 GG 0.999931 0.990896 0 - 5 60 132 1 0 8.592557 44 60 1295 93 ENST00000409177.1 0.102041 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 106150429 106150429 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:106150429A>G NA NA FHL2 (95459 upstream) : NCK2 (210924 downstream) NA NA NA caaagtgctgagattacaggc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.106150429A>G NA hg19 0.02 -0.183987 CTGxGAT UNCOVERED NOVEL 0 10 2.407657 KEEP 13 0 0 8 268 AA 0 0 0 3 60 105 0 0 8.262315 17 60 491 60 0.15 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 106962172 106962172 __UNKNOWN__ IGR SNP C C T rs544201279 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:106962172C>T NA NA UXS1 (151377 upstream) : PLGLA (40596 downstream) NA NA NA tgagccactgcgccctgccCC 0.547 NA c||| 5 0.000998403 0 0 5008 , , NA 16965 0.005 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.106962172C>T NA hg19 0.02 2.929611 CTGxGCC COVERED NOVEL 0 17 5.572324 KEEP 1 1 32 30 982 CC 0.999997 0.999996 0 6 60 184 1 0 11.113256 106 60 3561 229 0.053571 0.999999 AC108868.1 0 __UNKNOWN__ __UNKNOWN__ 2 107099855 107099855 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:107099855A>G ENST00000596204.1 - 2 23 NA NA NA gcaatggcgcaatcttggctc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000596204.1:c.24-106T>C chr2.hg19:g.107099855A>G NA hg19 0.02 1.643359 CGCxATC COVERED NOVEL AC108868.1-201 NOVEL basic|appris_principal protein_coding NA protein_coding 11 4.512423 KEEP 7 0 0 15 436 AA 0.995343 0.959286 0 - 5 21 154 0 0 10.874987 42 60 1074 79 ENST00000596204.1 0.106383 0.963774 ST6GAL2 84620 __UNKNOWN__ __UNKNOWN__ 2 107421267 107421267 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:107421267T>C ENST00000409382.3 - 0 4067 ST6GAL2_ENST00000361686.4_3'UTR NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 NA NA growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 cactgcactctagcctgggcg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB059555 CCDS2073.1, CCDS46380.1 2q11-q12 2008-02-05 2005-02-07 2005-02-07 ENSG00000144057 ENSG00000144057 84620 2.4.99.2 10861 protein-coding gene gene with protein product 608472 sialyltransferase 2 (monosialoganglioside sialyltransferase) SIAT2 NA Standard NM_032528 NM_032528 NA Approved KIAA1877, St6gal2, St6GalII uc002tdr.3 Q96JF0 OTTHUMG00000130923 ENST00000409382.3:c.*1867A>G chr2.hg19:g.107421267T>C NA D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4 hg19 CCDS2073.1 0.02 -0.263116 CTCxAGC COVERED NOVEL ST6GAL2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330065.1 4 2.406466 KEEP 0 0 0 8 238 TT 0.99257 0.688515 0 - 4 60 133 0 0 10.51358 20 60 584 45 ENST00000409382.3 0.166667 0.693668 ST6GAL2 84620 __UNKNOWN__ __UNKNOWN__ 2 107429591 107429591 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:107429591T>C ENST00000409382.3 - 6 1929 ST6GAL2_ENST00000409087.3_3'UTR|ST6GAL2_ENST00000361686.4_Intron NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 NA NA growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 ttttttgagatggagtctcac 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 32 28 29 NA NA NA 2 NA NA 107429591 692 1591 2283 SO:0001627 intron_variant AB059555 CCDS2073.1, CCDS46380.1 2q11-q12 2008-02-05 2005-02-07 2005-02-07 ENSG00000144057 ENSG00000144057 84620 2.4.99.2 10861 protein-coding gene gene with protein product 608472 sialyltransferase 2 (monosialoganglioside sialyltransferase) SIAT2 NA Standard NM_032528 NM_032528 NA Approved KIAA1877, St6gal2, St6GalII uc002tdr.3 Q96JF0 OTTHUMG00000130923 ENST00000409382.3:c.1319-6186A>G chr2.hg19:g.107429591T>C NA D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4 hg19 CCDS2073.1 0.02 1.962159 AGAxGGA COVERED NOVEL ST6GAL2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330065.1 11 5.548103 KEEP 1 1 24 27 818 TT 0.999997 0.98794 0 - 5 60 152 2 0 10.843926 39 60 1139 105 ENST00000409382.3 0.113636 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 108512935 108512935 __UNKNOWN__ IGR SNP A A T rs202206584 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:108512935A>T NA NA RGPD4 (5638 upstream) : SLC5A7 (90043 downstream) NA NA NA tgacctcgtgatctgcccacc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.108512935A>T NA hg19 0.02 -0.368373 GTGxTCT UNCOVERED NOVEL 0 15 2.707132 KEEP 11 0 0 9 274 AA 0 0 0 5 40 151 0 1 10.944068 35 60 1062 91 0.125 0.899314 LIMS1 3987 __UNKNOWN__ __UNKNOWN__ 2 109277148 109277148 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:109277148A>G ENST00000393310.1 + 2 323 LIMS1_ENST00000393314.2_Intron|LIMS1_ENST00000410093.1_Intron|LIMS1_ENST00000544547.1_Intron|LIMS1_ENST00000542845.1_Intron|LIMS1_ENST00000338045.3_Intron|LIMS1_ENST00000409441.1_Intron|LIMS1_ENST00000332345.6_Intron NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 NA NA cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337) cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234) zinc ion binding (GO:0008270) breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 ccaaagtgctaggattacagg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1 2q12.3 2008-05-23 ENSG00000169756 ENSG00000169756 3987 6616 protein-coding gene gene with protein product 602567 NA 7517666, 10022929 Standard NM_004987 NM_001193482 NA Approved PINCH, PINCH1 uc002tek.4 P48059 OTTHUMG00000130983 ENST00000393310.1:c.156+928A>G chr2.hg19:g.109277148A>G NA B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44 hg19 CCDS2078.1 0.02 5.498887 GCTxGGA COVERED NOVEL LIMS1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000253596.1 34 8.630433 KEEP 6 3 110 67 2073 AA 1 1 0 + 7 60 233 1 0 14.365047 143 60 4239 329 ENST00000393310.1 0.046667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 109307573 109307573 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:109307573C>T NA NA LIMS1 (3871 upstream) : RANBP2 (28363 downstream) NA NA NA ggattacaggcgtgagccacc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.109307573C>T NA hg19 0.02 -0.184206 AGGxGTG COVERED NOVEL 0 10 3.00907 KEEP 1 0 0 10 327 AC 0.993072 0.420544 0 3 53 94 0 0 7.160947 17 60 546 44 0.15 0.423478 SEPT10 151011 __UNKNOWN__ __UNKNOWN__ 2 110310873 110310873 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:110310873A>G ENST00000356688.4 - 9 1344 SEPT10_ENST00000397712.2_Intron|SEPT10_ENST00000334001.6_Intron|SEPT10_ENST00000415095.1_Intron|SEPT10_ENST00000437928.1_Intron|SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000468616.1_Intron Q9P0V9 SEP10_HUMAN septin 10 NA NA cell cycle (GO:0007049)|cell division (GO:0051301) septin complex (GO:0031105) GTP binding (GO:0005525) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 tgtaatcccaacactttggga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF146760 CCDS42726.1, CCDS46383.1 2q13 2013-01-21 ENSG00000186522 ENSG00000186522 151011 Septins 14349 protein-coding gene gene with protein product sept1-like 611737 NA 12711328 Standard NM_144710 NM_144710 NA Approved FLJ11619 uc002tew.4 Q9P0V9 OTTHUMG00000154957 ENST00000356688.4:c.1029-77T>C chr2.hg19:g.110310873A>G NA B3KRQ9|Q86VP5|Q9HAH6 hg19 0.02 -0.280567 CCAxCAC COVERED NOVEL SEPT10-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337805.1 5 3.007337 KEEP 0 0 0 10 281 AA 0.992708 0.734278 0 - 3 60 107 0 0 7.992545 25 60 677 57 ENST00000356688.4 0.107143 0.739671 ACOXL 55289 __UNKNOWN__ __UNKNOWN__ 2 111645305 111645305 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:111645305A>G ENST00000389811.4 + 11 1012 ACOXL_ENST00000340561.4_3'UTR|ACOXL_ENST00000439055.1_Intron Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like NA NA fatty acid beta-oxidation (GO:0006635) peroxisome (GO:0005777) acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997) kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 ccaaagtgctaggattatagg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46389.1 2q13 2010-06-30 2010-04-30 ENSG00000153093 ENSG00000153093 55289 25621 protein-coding gene gene with protein product acyl-Coenzyme A oxidase-like NA Standard NM_018308 NM_001142807 NA Approved FLJ11042 uc010yxk.1 Q9NUZ1 OTTHUMG00000131257 ENST00000389811.4:c.789-21061A>G chr2.hg19:g.111645305A>G NA A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7 hg19 0.02 1.783579 GCTxGGA COVERED NOVEL ACOXL-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000254024.2 11 4.211548 KEEP 0 0 0 14 422 AA 0.995343 0.991593 0 + 4 60 127 0 0 8.173655 58 60 1636 100 ENST00000389811.4 0.064516 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 111999498 111999498 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:111999498A>G NA NA MIR4435-1HG (2874 upstream) : AC068491.2 (23361 downstream) NA NA NA ctcccaaagtactgggattac 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.111999498A>G NA hg19 0.02 -0.09648 AGTxCTG UNCOVERED NOVEL 0 4 2.40704 KEEP 0 0 0 8 241 AA 0.99257 0.119541 0 4 60 134 0 0 12.385887 6 60 173 24 0.4 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 112379583 112379583 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:112379583T>C NA NA AC017002.4 (9488 upstream) : ANAPC1 (145633 downstream) NA NA NA tggtggctcatgcctgtaatc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.112379583T>C NA hg19 0.02 -0.22802 TCAxGCC COVERED NOVEL 0 7 3.310299 KEEP 1 0 0 11 353 TT 0.993072 0.578892 0 3 55 92 0 0 6.828335 19 60 547 51 0.136364 0.58293 ANAPC1 64682 __UNKNOWN__ __UNKNOWN__ 2 112615888 112615888 __UNKNOWN__ Missense_Mutation SNP C C G rs79100806 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:112615888C>G ENST00000341068.3 - 11 2125 c.1353G>C c.(1351-1353)caG>caC p.Q451H NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 451 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CCTACCGTAACTGGAGCTGGG 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 81 74 77 NA NA NA 2 NA NA 112615888 2203 4300 6503 SO:0001583 missense AJ278357 CCDS2093.1 2q12.1 2011-06-15 ENSG00000153107 ENSG00000153107 64682 Anaphase promoting complex subunits 19988 protein-coding gene gene with protein product 608473 NA 11179667 Standard NM_022662 NM_022662 NA Approved MCPR, TSG24, APC1 uc002ssh.3 Q9H1A4 OTTHUMG00000131277 ENST00000341068.3:c.1353G>C chr2.hg19:g.112615888C>G ENSP00000339109:p.Gln451His NA Q2M3H8|Q9BSE6|Q9H8D0 hg19 CCDS2093.1 0.02 6.014268 TAAxTGG COVERED . . . . . . . . . . C 11.07 1.530402 0.27387 . . ENSG00000153107 ENST00000341068 . . . 4.99 3.2 0.36748 . 0.242522 0.18250 N 0.146999 T 0.45756 0.1358 L 0.45051 1.395 0.42471 D 0.992821 B 0.12630 0.006 B 0.10450 0.005 T 0.31998 -0.9923 9 0.38643 T 0.18 -5.7924 7.2716 0.26260 0.0:0.712:0.1398:0.1482 . 451 Q9H1A4 APC1_HUMAN H 451 . ENSP00000339109:Q451H Q - 3 2 ANAPC1 112332359 1.000000 0.71417 1.000000 0.80357 0.603000 0.37013 1.353000 0.34045 0.627000 0.30340 -0.979000 0.02580 CAG NOVEL ANAPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254045.2 6 4.36071 KEEP 1 7 239 98 3512 CC 1 1 0 - 18 54 572 0 0 42.413444 123 70 4219 366 ENST00000341068.3 0.12766 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 112810611 112810611 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:112810611G>A NA NA MERTK (23473 upstream) : TMEM87B (2188 downstream) NA NA NA ggccgggcgcggtggctcacg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.112810611G>A NA hg19 0.02 -0.359594 CGCxGTG COVERED NOVEL 0 2 4.209925 KEEP 5 0 0 14 441 GG 0.994391 0.883889 0 4 60 120 0 0 8.265406 36 60 1153 83 0.1 0.888875 ZC3H6 376940 __UNKNOWN__ __UNKNOWN__ 2 113082847 113082847 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:113082847A>G ENST00000409871.1 + 11 2487 ZC3H6_ENST00000343936.4_Intron NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 NA NA metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 gaggcaggtgaatcacctgag 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK123404 CCDS46393.1 2q13 2012-07-05 2005-06-02 2005-06-02 ENSG00000188177 ENSG00000188177 376940 Zinc fingers, CCCH-type domain containing 24762 protein-coding gene gene with protein product zinc finger CCCH-type domain containing 6 ZC3HDC6 NA Standard NM_198581 NM_198581 NA Approved FLJ41410, FLJ45877, KIAA2035 uc002thq.1 P61129 OTTHUMG00000153286 ENST00000409871.1:c.2086+73A>G chr2.hg19:g.113082847A>G NA A9JR71|Q6ZW96 hg19 CCDS46393.1 0.02 -0.227953 GTGxATC COVERED NOVEL ZC3H6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330551.1 1 6.919387 KEEP 0 0 0 23 673 AA 0.999892 0.582867 0 + 3 60 95 2 0 7.006587 21 60 571 53 ENST00000409871.1 0.125 0.58293 POLR1B 84172 __UNKNOWN__ __UNKNOWN__ 2 113314647 113314647 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:113314647C>G ENST00000417433.2 + 7 1020 POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000263331.5_Intron|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000498054.1_Intron|POLR1B_ENST00000541869.1_Intron NM_001137604.1 NP_001131076.1 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa NA NA gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549) breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 attgcttgagcccaggagttt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(16;256 576 9537 23969 41147) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001678 CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1 2q13 2013-01-21 ENSG00000125630 ENSG00000125630 84172 RNA polymerase subunits 20454 protein-coding gene gene with protein product 602000 NA Standard NM_019014 NM_001137604 NA Approved Rpo1-2, FLJ21921, FLJ10816, RPA2 uc002thw.2 Q9H9Y6 OTTHUMG00000131314 ENST00000417433.2:c.991-840C>G chr2.hg19:g.113314647C>G NA B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3 hg19 CCDS46395.1 0.02 -0.271944 GAGxCCA COVERED NOVEL POLR1B-005 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000330626.1 8 2.706024 KEEP 3 0 0 9 311 CC 0.99254 0.711964 0 + 3 60 98 0 0 6.997874 27 60 928 66 ENST00000417433.2 0.1 0.717315 CHCHD5 84269 __UNKNOWN__ __UNKNOWN__ 2 113345601 113345601 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:113345601A>T ENST00000324913.5 + 4 516 CHCHD5_ENST00000409719.1_3'UTR NM_032309.2 NP_115685.1 Q9BSY4 CHCH5_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 5 NA NA mitochondrion (GO:0005739) NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1) 7 gtgcggtggcacatgcctgta 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004498 CCDS2098.1 2q14.1 2012-10-15 2004-01-19 2004-01-21 ENSG00000125611 ENSG00000125611 84269 Coiled-coil-helix-coiled-coil-helix domain containing 17840 protein-coding gene gene with protein product mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae) chromosome 2 open reading frame 9 C2orf9 NA 22842048 Standard NM_032309 NM_032309 NA Approved MGC11104, MIC14 uc002thz.1 Q9BSY4 OTTHUMG00000131312 ENST00000324913.5:c.310-842A>T chr2.hg19:g.113345601A>T NA Q585T4|Q8N8C4 hg19 CCDS2098.1 0.02 1.228463 GGCxCAT COVERED NOVEL CHCHD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254081.2 7 8.721343 KEEP 1 0 0 29 845 AA 0.999997 0.999723 0 + 5 60 149 0 0 9.202486 74 60 2029 144 ENST00000324913.5 0.063291 0.999726 NT5DC4 284958 __UNKNOWN__ __UNKNOWN__ 2 113494542 113494542 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:113494542A>C ENST00000327581.4 + 17 1299 CKAP2L_ENST00000302450.6_3'UTR|CKAP2L_ENST00000541405.1_3'UTR Q86YG4 NT5D4_HUMAN 5'-nucleotidase domain containing 4 NA NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) NA cttgctctgtaacccaggctg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC041437 2q13 2012-04-20 ENSG00000144130 ENSG00000144130 284958 27678 protein-coding gene gene with protein product NA Standard XM_001716541 XM_001716359 NA Approved uc002tid.3 Q86YG4 OTTHUMG00000153308 ENST00000327581.4:c.1249-5447A>C chr2.hg19:g.113494542A>C NA hg19 0.02 1.547092 TGTxACC COVERED NOVEL NT5DC4-001 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000330647.1 12 3.340722 KEEP 0 1 25 20 586 AT 0.999892 0.999832 0 + 5 60 165 1 0 10.855602 72 60 1912 177 ENST00000327581.4 0.064935 0.99994 IL36RN 26525 __UNKNOWN__ __UNKNOWN__ 2 113822281 113822281 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:113822281G>C ENST00000393200.2 + 0 2656 IL36RN_ENST00000346807.3_3'UTR NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist NA NA antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715) extracellular space (GO:0005615) interleukin-1 receptor antagonist activity (GO:0005152) large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 ggtctaacttgttatgcagca 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF201830 CCDS2111.1 2q14 2014-09-17 2011-06-06 2011-06-06 ENSG00000136695 ENSG00000136695 26525 Interleukins and interleukin receptors 15561 protein-coding gene gene with protein product family of interleukin 1-delta, interleukin-1 receptor antagonist homolog 1, interleukin-1 HY1, IL-1 related protein 3 605507 interleukin 1 family, member 5 (delta) IL1F5 NA 10625660, 10512743, 11574262 Standard NM_173170 NM_012275 NA Approved FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840 uc002tit.3 Q9UBH0 OTTHUMG00000131337 ENST00000393200.2:c.*2027G>C chr2.hg19:g.113822281G>C NA A8K2I4|Q56AT9|Q7RTZ6 hg19 CCDS2111.1 0.02 1.956345 CTTxTTA COVERED NOVEL IL36RN-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330729.1 0 3.912884 KEEP 0 0 0 13 468 GG 0.994391 0.991957 0 + 7 60 249 0 0 18.31397 64 60 2175 121 ENST00000393200.2 0.098592 0.997553 PTPN4 5775 __UNKNOWN__ __UNKNOWN__ 2 120641722 120641722 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:120641722C>T ENST00000263708.2 + 8 1358 NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726) endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) gatccgcctgccttggcctcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2129.1 2q14.2 2011-06-09 ENSG00000088179 ENSG00000088179 5775 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9656 protein-coding gene gene with protein product 176878 NA 1648233 Standard NM_002830 NA Approved PTPMEG uc002tmf.2 P29074 OTTHUMG00000131436 ENST00000263708.2:c.587+1523C>T chr2.hg19:g.120641722C>T NA B2RBV8|Q9UDA7 hg19 CCDS2129.1 0.02 -0.192985 CTGxCTT COVERED NOVEL PTPN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254233.2 6 2.407976 KEEP 4 0 0 8 293 CC 0.99257 0.454356 0 + 3 60 88 1 0 6.427805 19 60 645 56 ENST00000263708.2 0.136364 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 123421515 123421515 __UNKNOWN__ IGR SNP T T C rs12474746|rs35183109|rs59110900 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:123421515T>C NA NA AC018737.3 (867237 upstream) : AC062020.2 (401381 downstream) NA NA NA gctgctgctgttgctgctgct 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.123421515T>C NA hg19 0.02 2.0705 CTGxTGC COVERED NOVEL 0 3 6.018222 KEEP 1 0 0 20 628 TT 0.99986 0.986015 0 7 60 239 0 0 18.022202 50 60 1491 122 0.122807 0.986153 CYP27C1 339761 __UNKNOWN__ __UNKNOWN__ 2 127942436 127942436 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:127942436A>G ENST00000335247.7 - 0 3660 NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 NA NA membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) ttgctctgtcacccaggctgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AC027142 CCDS33285.1 2q14.3 2008-05-14 2007-05-18 ENSG00000186684 ENSG00000186684 339761 Cytochrome P450s 33480 protein-coding gene gene with protein product NA Standard NM_001001665 NM_001001665 NA Approved FLJ16008 uc002tod.2 Q4G0S4 OTTHUMG00000153400 ENST00000335247.7:c.*2411T>C chr2.hg19:g.127942436A>G NA Q6ZNI7 hg19 CCDS33285.1 0.02 1.734356 GTCxCCC COVERED NOVEL CYP27C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331046.1 18 6.783316 KEEP 1 2 73 48 1406 AA 1 0.999678 0 - 5 60 165 0 2 10.799806 74 60 2049 170 ENST00000335247.7 0.063291 0.999678 CYP27C1 339761 __UNKNOWN__ __UNKNOWN__ 2 127944139 127944139 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:127944139G>A ENST00000335247.7 - 0 1957 CYP27C1_ENST00000409327.1_3'UTR NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 NA NA membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) caccacgcccggctaattttt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AC027142 CCDS33285.1 2q14.3 2008-05-14 2007-05-18 ENSG00000186684 ENSG00000186684 339761 Cytochrome P450s 33480 protein-coding gene gene with protein product NA Standard NM_001001665 NM_001001665 NA Approved FLJ16008 uc002tod.2 Q4G0S4 OTTHUMG00000153400 ENST00000335247.7:c.*708C>T chr2.hg19:g.127944139G>A NA Q6ZNI7 hg19 CCDS33285.1 0.02 -0.263148 CCCxGCT COVERED NOVEL CYP27C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331046.1 5 3.009538 KEEP 0 0 0 10 335 GG 0.992708 0.68861 0 - 3 60 92 0 0 6.493127 25 60 802 49 ENST00000335247.7 0.107143 0.693668 HS6ST1 9394 __UNKNOWN__ __UNKNOWN__ 2 129025413 129025413 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:129025413C>T ENST00000259241.6 - 0 1572 NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 NA NA angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887) heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) TCGTCTCTTGCGCAAACCTTC 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB006179 CCDS42748.1 2q21 2010-03-19 2002-08-23 ENSG00000136720 ENSG00000136720 9394 Sulfotransferases, membrane-bound 5201 protein-coding gene gene with protein product 604846 HS6ST NA 9535912 Standard NM_004807 NM_004807 NA Approved uc002tpt.4 O60243 OTTHUMG00000153542 ENST00000259241.6:c.*323G>A chr2.hg19:g.129025413C>T NA B4DEP2|B4DJ29|Q53SL2|Q9BVI1 hg19 CCDS42748.1 0.02 2.337589 TTGxGCA COVERED NOVEL HS6ST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331572.1 1 6.815971 KEEP 1 3 86 53 1781 CC 1 0.999992 0 - 6 60 163 0 0 9.103687 103 60 3272 220 ENST00000259241.6 0.055046 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 130751186 130751186 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:130751186C>G NA NA RAB6C (10875 upstream) : AC018865.8 (33231 downstream) NA NA NA AGCCGGCAGACCCTGGCCCAA 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.130751186C>G NA hg19 0.02 -0.377163 AGAxCCT COVERED NOVEL 0 3 5.35306 KEEP 0 1 35 30 1039 CC 0.999997 0.909066 0 6 45 198 0 0 15.11847 37 60 1187 83 0.139535 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 130751606 130751606 __UNKNOWN__ IGR SNP G G A rs12692104 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:130751606G>A NA NA RAB6C (11295 upstream) : AC018865.8 (32811 downstream) NA NA NA ATGACGATGAGTGTGTGATCC 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.130751606G>A NA hg19 0.02 -0.26316 TGAxTGT COVERED NOVEL 0 4 4.213657 KEEP 7 0 0 14 521 GG 0.993634 0.689252 0 4 60 122 0 0 9.336247 21 52 725 74 0.16 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 130962028 130962028 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:130962028T>C NA NA TUBA3E (5994 upstream) : AC018804.7 (26899 downstream) NA NA NA ctttgggaggtcgaggcgggt 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.130962028T>C NA hg19 0.02 -0.315729 AGGxCGA COVERED NOVEL 0 5 4.513774 KEEP 2 0 0 15 478 TT 0.995343 0.814653 0 3 49 103 0 0 7.367212 30 60 888 61 0.090909 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 130987180 130987180 __UNKNOWN__ IGR SNP G G C rs13407565 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:130987180G>C NA NA TUBA3E (31146 upstream) : AC018804.7 (1747 downstream) NA NA NA GGACAGAGACGCCGAGTTCTA 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.130987180G>C NA hg19 0.02 -0.219296 GACxCCG COVERED NOVEL 0 0 2.407739 KEEP 2 0 0 8 283 GG 0.99257 0.54878 0 7 40 230 0 0 19.90244 18 60 585 43 0.28 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 130987508 130987508 __UNKNOWN__ IGR SNP G G T rs75869381 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:130987508G>T NA NA TUBA3E (31474 upstream) : AC018804.7 (1419 downstream) NA NA NA GACCAGGAAAGTGCTGAGGCC 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.130987508G>T NA hg19 0.02 -0.385903 AAAxTGC COVERED NOVEL 0 1 6.986011 KEEP 1 2 65 46 1646 GG 1 0.918171 0 5 49 154 0 0 11.024114 39 60 1301 125 0.113636 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 130987679 130987679 __UNKNOWN__ IGR SNP T T C rs201174038 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:130987679T>C NA NA TUBA3E (31645 upstream) : AC018804.7 (1248 downstream) NA NA NA TCCAGCAGCCTGCTCTGGGGG 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.130987679T>C NA hg19 0.02 1.423679 GCCxGCT COVERED NOVEL 0 3 9.030602 KEEP 2 3 100 65 2030 TT 1 0.998696 0 5 50 159 0 0 10.314006 70 60 2095 203 0.066667 0.998696 PTPN18 26469 __UNKNOWN__ __UNKNOWN__ 2 131131882 131131882 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:131131882G>C ENST00000175756.5 + 0 2569 PTPN18_ENST00000347849.3_3'UTR NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|nucleus (GO:0005634) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) CACAcagcctgccgagtagct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X79568 CCDS2161.1, CCDS46410.1 2q21 2011-06-09 ENSG00000072135 ENSG00000072135 26469 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9649 protein-coding gene gene with protein product 606587 NA 8950995 Standard NM_014369 NA Approved BDP1 uc002trc.3 Q99952 OTTHUMG00000131630 ENST00000175756.5:c.*1085G>C chr2.hg19:g.131131882G>C NA B4E1E6|Q53P42 hg19 CCDS2161.1 0.02 1.490722 CCTxCCG COVERED NOVEL PTPN18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254523.2 15 21.80093 KEEP 0 4 148 124 4245 GG 1 0.999862 0 + 6 60 197 0 1 13.086299 81 60 2767 299 ENST00000175756.5 0.068966 0.999862 PLEKHB2 55041 __UNKNOWN__ __UNKNOWN__ 2 132021815 132021815 __UNKNOWN__ Intron SNP G G A rs369764537 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:132021815G>A ENST00000404460.1 + 7 477 POTEE_ENST00000356920.5_Silent_p.T929T|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 NA NA endosome (GO:0005768)|membrane (GO:0016020) large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) AGATGGCCACGGCGGCCTCCA 0.617 NA .||| 283 0.0565096 0.0893 0.0447 5008 , , NA 43636 0.0069 NA 0.0795 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 141 156 151 NA NA NA 2 NA NA 132021815 2201 4297 6498 SO:0001627 intron_variant CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1 2q22.1 2013-01-10 ENSG00000115762 ENSG00000115762 55041 Pleckstrin homology (PH) domain containing 19236 protein-coding gene gene with protein product NA 10200314 Standard NM_017958 NM_017958 NA Approved EVT2, FLJ20783 uc031rpd.1 Q96CS7 OTTHUMG00000131656 ENST00000404460.1:c.424-88778G>A chr2.hg19:g.132021815G>A NA B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1 hg19 0.02 3.18666 CACxGCG COVERED NOVEL PLEKHB2-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000318943.2 2 2.375608 KEEP 3 2 63 30 1015 GG 0.999997 0.999971 0 + 9 44 275 0 0 18.5841 93 50 3054 191 ENST00000404460.1 0.088235 0.999973 PLEKHB2 55041 __UNKNOWN__ __UNKNOWN__ 2 132021860 132021860 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:132021860T>C ENST00000404460.1 + 7 477 POTEE_ENST00000356920.5_Silent_p.D944D|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 NA NA endosome (GO:0005768)|membrane (GO:0016020) large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) AGCTGCCCGATGGCCAGGTCA 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 50 59 56 NA NA NA 2 NA NA 132021860 2063 4067 6130 SO:0001627 intron_variant CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1 2q22.1 2013-01-10 ENSG00000115762 ENSG00000115762 55041 Pleckstrin homology (PH) domain containing 19236 protein-coding gene gene with protein product NA 10200314 Standard NM_017958 NM_017958 NA Approved EVT2, FLJ20783 uc031rpd.1 Q96CS7 OTTHUMG00000131656 ENST00000404460.1:c.424-88733T>C chr2.hg19:g.132021860T>C NA B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1 hg19 0.02 1.631303 CGAxGGC COVERED NOVEL PLEKHB2-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000318943.2 3 4.347654 KEEP 19 1 36 27 817 TT 0.999892 0.998357 0 + 9 44 268 0 0 19.152314 66 50 1934 155 ENST00000404460.1 0.12 0.998465 AC093838.4 0 __UNKNOWN__ __UNKNOWN__ 2 132254701 132254701 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:132254701A>G ENST00000438378.2 + 0 328 NR_026922.1 NA NA NA gggcaacagaacgagaccctg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000438378.2: chr2.hg19:g.132254701A>G NA hg19 0.02 -0.420986 AGAxCGA COVERED NOVEL AC093838.4-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000331819.7 5 11.134588 KEEP 0 0 0 37 1206 AA 1 0.948402 0 + 3 60 108 0 0 7.507672 40 60 1175 104 ENST00000438378.2 0.069767 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 132769442 132769442 __UNKNOWN__ IGR SNP C C T rs138603580 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:132769442C>T NA NA RP1-156L9.1 (17708 upstream) : ANKRD30BL (135721 downstream) NA NA NA ggggtttcaccatgttgccct 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.132769442C>T NA hg19 0.02 -0.342128 CACxATG COVERED NOVEL 0 16 4.81529 KEEP 12 0 0 16 565 CC 0.995343 0.861714 0 4 47 120 0 0 8.794737 26 48 892 96 0.133333 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 132769488 132769488 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:132769488C>T NA NA RP1-156L9.1 (17754 upstream) : ANKRD30BL (135675 downstream) NA NA NA agagatctggccaccttggcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.132769488C>T NA hg19 0.02 -0.394765 TGGxCAC COVERED NOVEL 0 23 5.417465 KEEP 14 0 0 18 628 CC 0.997832 0.924631 0 4 27 119 0 1 8.259317 34 60 1171 107 0.105263 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 132844959 132844959 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:132844959T>C NA NA RP1-156L9.1 (93225 upstream) : ANKRD30BL (60204 downstream) NA NA NA GATGTGATGTTAGAGAACTAC 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.132844959T>C NA hg19 0.02 -0.298152 TGTxAGA COVERED NOVEL 0 2 7.823372 KEEP 0 0 0 26 800 TT 0.999957 0.781026 0 3 24 102 0 0 7.30937 29 60 814 82 0.09375 0.78106 ANKRD30BL 554226 __UNKNOWN__ __UNKNOWN__ 2 132919488 132919488 __UNKNOWN__ 5'UTR SNP C C G rs79351052 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:132919488C>G ENST00000409867.1 - 0 40 ANKRD30BL_ENST00000470729.1_Intron A7E2S9 A30BL_HUMAN ankyrin repeat domain 30B-like NA NA endometrium(1)|kidney(3) 4 CCGTTAGGCACCTGAGCAGAA 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant 2q21.2 2013-01-22 2010-06-14 2010-06-14 ENSG00000163046 ENSG00000163046 554226 Ankyrin repeat domain containing 35167 protein-coding gene gene with protein product non-protein coding RNA 164, ankyrin repeat domain 30B pseudogene 3 NCRNA00164, ANKRD30BP3 NA 17114284 Standard NR_027019 NR_027019 NA Approved uc002tti.3 A7E2S9 OTTHUMG00000153491 ENST00000409867.1:c.-210G>C chr2.hg19:g.132919488C>G NA B8ZZL7 hg19 0.02 1.93244 GCAxCTG COVERED NOVEL ANKRD30BL-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000331353.2 6 9.028079 KEEP 1 0 0 30 1004 CC 0.999997 0.970818 0 - 6 49 200 0 0 14.842524 45 60 1484 91 ENST00000409867.1 0.117647 0.97082 ANKRD30BL 554226 __UNKNOWN__ __UNKNOWN__ 2 132919501 132919501 __UNKNOWN__ 5'UTR SNP T T G rs78576926 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:132919501T>G ENST00000409867.1 - 0 27 ANKRD30BL_ENST00000470729.1_Intron A7E2S9 A30BL_HUMAN ankyrin repeat domain 30B-like NA NA endometrium(1)|kidney(3) 4 GAGCAGAACCTTTAGGCAGCT 0.597 NA t||| 1 0.000199681 0 0 5008 , , NA 18830 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant 2q21.2 2013-01-22 2010-06-14 2010-06-14 ENSG00000163046 ENSG00000163046 554226 Ankyrin repeat domain containing 35167 protein-coding gene gene with protein product non-protein coding RNA 164, ankyrin repeat domain 30B pseudogene 3 NCRNA00164, ANKRD30BP3 NA 17114284 Standard NR_027019 NR_027019 NA Approved uc002tti.3 A7E2S9 OTTHUMG00000153491 ENST00000409867.1:c.-223A>C chr2.hg19:g.132919501T>G NA B8ZZL7 hg19 0.02 -0.377137 ACCxTTA COVERED NOVEL ANKRD30BL-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000331353.2 6 7.823449 KEEP 1 0 0 26 829 TT 0.999957 0.90903 0 - 6 49 193 0 0 14.684813 36 60 1078 73 ENST00000409867.1 0.142857 0.909069 ANKRD30BL 554226 __UNKNOWN__ __UNKNOWN__ 2 133014579 133014579 __UNKNOWN__ Intron SNP A A G rs62165009 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133014579A>G ENST00000470729.1 - 1 441 MIR663B_ENST00000408361.1_RNA NR_027020.2 A7E2S9 A30BL_HUMAN ankyrin repeat domain 30B-like NA NA endometrium(1)|kidney(3) 4 AAACACGGCCACGGGATCCCA 0.721 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 38 33 NA NA NA 2 NA NA 133014579 1549 3575 5124 SO:0001627 intron_variant 2q21.2 2013-01-22 2010-06-14 2010-06-14 ENSG00000163046 ENSG00000163046 554226 Ankyrin repeat domain containing 35167 protein-coding gene gene with protein product non-protein coding RNA 164, ankyrin repeat domain 30B pseudogene 3 NCRNA00164, ANKRD30BP3 NA 17114284 Standard NR_027019 NR_027019 NA Approved uc002tti.3 A7E2S9 OTTHUMG00000153491 ENST00000470729.1:c.984+522T>C chr2.hg19:g.133014579A>G NA B8ZZL7 hg19 0.02 16.035364 GCCxCGG COVERED NOVEL ANKRD30BL-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000331354.1 11 8.030686 KEEP 14 5 169 86 2542 AA 1 1 0 - 30 50 987 0 0 71.679519 249 70 7143 844 ENST00000470729.1 0.107527 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019092 133019092 __UNKNOWN__ IGR SNP G G A rs4018090 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133019092G>A NA NA ANKRD30BL (3550 upstream) : AC097532.2 (24275 downstream) NA NA NA ACTGAGTTTGGTGATTGAGCT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133019092G>A NA hg19 0.02 7.773434 TTGxTGA COVERED NOVEL 0 4 5.928127 KEEP 16 6 186 85 2980 GG 1 1 0 8 60 237 0 0 19.462108 26 60 840 472 0.235294 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019452 133019452 __UNKNOWN__ IGR SNP C C A rs10153608 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133019452C>A NA NA ANKRD30BL (3910 upstream) : AC097532.2 (23915 downstream) NA NA NA ACAGATTCCCCAGTGTCTTCT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133019452C>A NA hg19 0.02 3.028671 CCCxAGT COVERED NOVEL 0 7 11.840867 KEEP 17 3 96 73 2507 CC 1 0.999999 0 7 60 214 0 0 18.02961 20 60 685 265 0.259259 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019489 133019489 __UNKNOWN__ IGR SNP T T C rs10153767 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133019489T>C NA NA ANKRD30BL (3947 upstream) : AC097532.2 (23878 downstream) NA NA NA TTTCACCTGATACTCTCCCAC 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133019489T>C NA hg19 0.02 3.351506 TGAxACT COVERED NOVEL 0 3 13.0035 KEEP 29 2 74 69 2039 TT 1 1 0 6 60 200 0 0 17.719186 13 60 342 264 0.315789 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019578 133019578 __UNKNOWN__ IGR SNP C C G rs112681737 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133019578C>G NA NA ANKRD30BL (4036 upstream) : AC097532.2 (23789 downstream) NA NA NA GGAGGACCAGCAGCTCTTAGT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133019578C>G NA hg19 0.02 27.07585 CAGxAGC COVERED NOVEL 0 32 94.079712 KEEP 15 6 219 389 14062 CC 1 1 0 17 60 529 0 0 49.615502 21 60 719 1557 0.447368 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020059 133020059 __UNKNOWN__ IGR SNP C C T rs113975411 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133020059C>T NA NA ANKRD30BL (4517 upstream) : AC097532.2 (23308 downstream) NA NA NA TTGGACTCTTCCATCATTTCA 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020059C>T NA hg19 0.02 15.827965 CTTxCAT COVERED NOVEL 0 11 11.617388 KEEP 20 8 258 129 4420 CC 1 1 0 17 60 507 0 0 46.275569 26 60 873 863 0.395349 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020137 133020137 __UNKNOWN__ IGR SNP G G A rs143018704 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133020137G>A NA NA ANKRD30BL (4595 upstream) : AC097532.2 (23230 downstream) NA NA NA GCAGCAGAAGGCTTGATGAGC 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020137G>A NA hg19 0.02 19.932392 AAGxCTT COVERED NOVEL 0 10 50.342876 KEEP 1 9 272 263 9121 GG 1 1 0 16 60 452 0 0 31.825692 114 60 3727 1371 0.123077 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020354 133020354 __UNKNOWN__ IGR SNP C C T rs113049242 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133020354C>T NA NA ANKRD30BL (4812 upstream) : AC097532.2 (23013 downstream) NA NA NA ATTATAGAGTCGAAGGCATGG 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020354C>T NA hg19 0.02 6.855688 AGTxGAA COVERED NOVEL 0 1 24.466567 KEEP 37 3 84 111 3662 CC 1 1 0 6 60 176 1 0 15.668078 11 60 359 630 0.352941 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020382 133020382 __UNKNOWN__ IGR SNP C C T rs113897499 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133020382C>T NA NA ANKRD30BL (4840 upstream) : AC097532.2 (22985 downstream) NA NA NA CTCTACAACACTTTGGCATCT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020382C>T NA hg19 0.02 8.447489 ACAxTTT COVERED NOVEL 0 1 11.577571 KEEP 40 7 206 111 3919 CC 1 1 0 10 60 288 0 0 28.565431 7 60 228 585 0.588235 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020470 133020470 __UNKNOWN__ IGR SNP C C T rs111661146 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133020470C>T NA NA ANKRD30BL (4928 upstream) : AC097532.2 (22897 downstream) NA NA NA GCCTGGTGTGCTGCAGGGAAC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020470C>T NA hg19 0.02 2.217518 GTGxTGC COVERED NOVEL 0 0 9.330861 KEEP 4 3 85 61 2178 CC 1 1 0 4 53 113 0 0 8.863214 16 60 551 231 0.2 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020501 133020501 __UNKNOWN__ IGR SNP C C T rs112422141 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133020501C>T NA NA ANKRD30BL (4959 upstream) : AC097532.2 (22866 downstream) NA NA NA GCAACAGGAACACGATATTGC 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020501C>T NA hg19 0.02 2.650784 GAAxACG COVERED NOVEL 0 0 9.296684 KEEP 2 2 63 53 1834 CC 1 0.999998 0 5 41 143 0 0 11.254447 20 60 666 193 0.2 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020761 133020761 __UNKNOWN__ IGR SNP G G C rs147602387 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133020761G>C NA NA ANKRD30BL (5219 upstream) : AC097532.2 (22606 downstream) NA NA NA TCATGAATTTGGTTACTAATA 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020761G>C NA hg19 0.02 5.525194 TTTxGTT COVERED NOVEL 0 18 14.377734 KEEP 2 2 72 73 2540 GG 1 1 0 6 60 204 0 0 14.080633 72 60 2404 330 0.076923 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020762 133020762 __UNKNOWN__ IGR SNP G G A rs140527914 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133020762G>A NA NA ANKRD30BL (5220 upstream) : AC097532.2 (22605 downstream) NA NA NA CATGAATTTGGTTACTAATAC 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020762G>A NA hg19 0.02 4.829526 TTGxTTA COVERED NOVEL 0 18 11.939188 KEEP 2 3 92 72 2553 GG 1 1 0 6 60 182 0 0 11.885629 72 60 2423 328 0.076923 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020763 133020763 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133020763T>C NA NA ANKRD30BL (5221 upstream) : AC097532.2 (22604 downstream) NA NA NA ATGAATTTGGTTACTAATACT 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020763T>C NA hg19 0.02 6.122803 TGGxTAC COVERED NOVEL 0 18 2.379947 KEEP 2 5 175 69 2272 TT 1 1 0 15 60 523 0 0 42.428803 68 60 2053 327 0.180723 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133031407 133031407 __UNKNOWN__ IGR SNP T T C rs28616723 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:133031407T>C NA NA ANKRD30BL (15865 upstream) : AC097532.2 (11960 downstream) NA NA NA aggtcgggagttagagaccag 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133031407T>C NA hg19 0.02 17.23932 GAGxTAG COVERED NOVEL 0 25 44.858875 KEEP 15 1 37 162 5237 TT 1 1 0 8 60 275 0 0 26.504139 8 60 217 976 0.5 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 137102634 137102634 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:137102634C>T NA NA CXCR4 (226899 upstream) : RN7SKP141 (45267 downstream) NA NA NA cttgggaggccgaggtggggg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.137102634C>T NA hg19 0.02 -0.209785 GGCxGAG COVERED NOVEL 0 8 3.009327 KEEP 0 0 0 10 334 CC 0.992708 0.518353 0 3 60 89 0 0 6.667707 17 60 525 41 0.15 0.522161 HNMT 3176 __UNKNOWN__ __UNKNOWN__ 2 138724792 138724792 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:138724792G>C ENST00000280097.3 + 1 319 HNMT_ENST00000485653.1_Intron|HNMT_ENST00000329366.4_Intron|HNMT_ENST00000280096.5_3'UTR|HNMT_ENST00000410115.1_Intron NM_006895.2 NP_008826.1 P50135 HNMT_HUMAN histamine N-methyltransferase NA NA brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634) histamine N-methyltransferase activity (GO:0046539) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) accagcctgggcaacatagca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2181.1, CCDS33296.1, CCDS33297.1 2q22.1 2008-02-05 ENSG00000150540 ENSG00000150540 3176 2.1.1.8 5028 protein-coding gene gene with protein product 605238 NA Standard NM_001024074 NA Approved uc002tvf.3 P50135 OTTHUMG00000131751 ENST00000280097.3:c.137+2594G>C chr2.hg19:g.138724792G>C NA B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6 hg19 CCDS2181.1 0.02 -0.39475 TGGxCAA COVERED NOVEL HNMT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254673.1 4 13.532514 KEEP 0 0 0 45 1506 GG 1 0.92664 0 + 3 60 95 0 1 6.307092 37 60 1233 107 ENST00000280097.3 0.075 0.92664 LRP1B 53353 __UNKNOWN__ __UNKNOWN__ 2 141130501 141130501 __UNKNOWN__ Intron SNP T T C rs77729177 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:141130501T>C ENST00000389484.3 - 69 11740 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B NA NA protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898) integral component of membrane (GO:0016021)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACTGTTTTCTGCATATTGCT 0.303 NA TSP Lung(27;0.18) T||| 268 0.0535144 0.0068 0.0764 5008 , , NA 17898 0.001 NA 0.1342 False NA ,,, NA NA NA 2504 0.0716 NA NA NA Colon(99;50 2074 2507 20106) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF176832 CCDS2182.1 2q21.2 2013-05-29 2010-01-26 ENSG00000168702 ENSG00000168702 53353 Low density lipoprotein receptors 6693 protein-coding gene gene with protein product LRP-deleted in tumors 608766 NA 10766186 Standard NM_018557 NM_018557 NA Approved LRP-DIT, LRPDIT uc002tvj.1 Q9NZR2 OTTHUMG00000131799 ENST00000389484.3:c.10768+75A>G chr2.hg19:g.141130501T>C NA Q8WY29|Q8WY30|Q8WY31 hg19 CCDS2182.1 0.02 -0.149099 TTCxGCA COVERED NOVEL LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254736.2 0 3.601185 KEEP 0 0 0 12 352 TT 0.993634 0.290142 0 - 3 60 94 0 0 7.392043 14 60 411 29 ENST00000389484.3 0.176471 0.292001 LRP1B 53353 __UNKNOWN__ __UNKNOWN__ 2 141259376 141259376 __UNKNOWN__ Silent SNP G G A rs35164907 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:141259376G>A ENST00000389484.3 - 55 9701 c.8730C>T c.(8728-8730)tgC>tgT p.C2910C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2910 LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898) integral component of membrane (GO:0016021)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTTATTGTCGCAAAGACCTC 0.383 NA TSP Lung(27;0.18) G||| 632 0.126198 0.0613 0.1167 5008 , , NA 13824 0.0198 NA 0.2465 False NA ,,, NA NA NA 2504 0.2065 NA NA NA Colon(99;50 2074 2507 20106) NA 0 G 381,4025 192.3+/-217.7 15,351,1837 80 78 79 NA 8730 3.4 1 2 dbSNP_126 79 2307,6293 386.9+/-342.0 309,1689,2302 no coding-synonymous LRP1B NM_018557.2 324,2040,4139 AA,AG,GG NA 26.8256,8.6473,20.6674 2910/4600 141259376 2688,10318 2203 4300 6503 SO:0001819 synonymous_variant AF176832 CCDS2182.1 2q21.2 2013-05-29 2010-01-26 ENSG00000168702 ENSG00000168702 53353 Low density lipoprotein receptors 6693 protein-coding gene gene with protein product LRP-deleted in tumors 608766 NA 10766186 Standard NM_018557 NM_018557 NA Approved LRP-DIT, LRPDIT uc002tvj.1 Q9NZR2 OTTHUMG00000131799 ENST00000389484.3:c.8730C>T chr2.hg19:g.141259376G>A NA Q8WY29|Q8WY30|Q8WY31 hg19 CCDS2182.1 0.02 1.555723 GTCxCAA COVERED NOVEL LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254736.2 1 15.950328 KEEP 0 0 0 53 1770 GG 1 0.989542 0 - 8 60 243 0 0 17.832243 53 60 1700 162 ENST00000389484.3 0.131148 0.989542 LRP1B 53353 __UNKNOWN__ __UNKNOWN__ 2 141771116 141771116 __UNKNOWN__ Intron SNP T T C rs76310658 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:141771116T>C ENST00000389484.3 - 14 3352 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B NA NA protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898) integral component of membrane (GO:0016021)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTAATTTGTTTTTTAATACCT 0.318 NA TSP Lung(27;0.18) T||| 79 0.0157748 0.0023 0.0043 5008 , , NA 16456 0 NA 0.0358 False NA ,,, NA NA NA 2504 0.0378 NA NA NA Colon(99;50 2074 2507 20106) NA 0 T 29,4377 30.8+/-60.4 1,27,2175 68 69 68 NA -2 0 2 dbSNP_132 68 255,8345 87.6+/-150.0 3,249,4048 no intron LRP1B NM_018557.2 4,276,6223 CC,CT,TT NA 2.9651,0.6582,2.1836 141771116 284,12722 2203 4300 6503 SO:0001627 intron_variant AF176832 CCDS2182.1 2q21.2 2013-05-29 2010-01-26 ENSG00000168702 ENSG00000168702 53353 Low density lipoprotein receptors 6693 protein-coding gene gene with protein product LRP-deleted in tumors 608766 NA 10766186 Standard NM_018557 NM_018557 NA Approved LRP-DIT, LRPDIT uc002tvj.1 Q9NZR2 OTTHUMG00000131799 ENST00000389484.3:c.2380+8A>G chr2.hg19:g.141771116T>C NA Q8WY29|Q8WY30|Q8WY31 hg19 CCDS2182.1 0.02 -0.184105 GTTxTTT COVERED NOVEL LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254736.2 1 4.812923 KEEP 0 0 0 16 479 TT 0.997832 0.422559 0 - 4 60 113 0 0 8.770529 17 60 460 44 ENST00000389484.3 0.190476 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 145121158 145121158 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:145121158A>C NA NA GTDC1 (31075 upstream) : ZEB2 (20489 downstream) NA NA NA gctgggattaaaggcgtgagc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.145121158A>C NA hg19 0.02 -0.377151 TTAxAGG COVERED . . . . . . . . . . A 2.961 -0.214627 0.06101 . . ENSG00000169554 ENST00000392860 . . . 0.263 -0.526 0.11913 . . . . . T 0.13713 0.0332 . . . . . . . . . . . . T 0.34551 -0.9824 3 0.09084 T 0.74 . . . . . . . . V 394 . ENSP00000376600:L394V L - 1 2 ZEB2 144837628 0.001000 0.12720 0.081000 0.20488 0.101000 0.19017 -0.809000 0.04510 -0.926000 0.03770 -1.018000 0.02450 TTA NOVEL 0 4 7.824127 KEEP 0 0 0 26 833 AA 0.999957 0.918131 0 4 60 139 0 0 10.356299 32 60 947 100 0.111111 0.918171 MBD5 55777 __UNKNOWN__ __UNKNOWN__ 2 148871806 148871806 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:148871806A>G ENST00000407073.1 + 3 73 MBD5_ENST00000478804.1_Intron NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 NA NA glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708) chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) chromatin binding (GO:0003682) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ttgggaggccaaggcaggcgg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040894 CCDS33302.1 2q23.2 2009-04-17 ENSG00000204406 ENSG00000204406 55777 20444 protein-coding gene gene with protein product 611472 NA 12529184 Standard NM_018328 NA Approved FLJ11113, KIAA1461 uc002twm.4 Q9P267 OTTHUMG00000150440 ENST00000407073.1:c.-924-64463A>G chr2.hg19:g.148871806A>G NA A5HMQ4|A7E2B1|Q53SR1|Q9NUV6 hg19 CCDS33302.1 0.02 -0.131524 GCCxAGG COVERED NOVEL MBD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318111.2 7 3.299478 KEEP 0 0 0 11 306 AA 0.993072 0.227586 0 + 3 60 97 0 0 7.973317 11 60 311 34 ENST00000407073.1 0.214286 0.229173 RBM43 375287 __UNKNOWN__ __UNKNOWN__ 2 152106132 152106132 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:152106132T>C ENST00000331426.5 - 0 2513 NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 NA NA nucleotide binding (GO:0000166)|RNA binding (GO:0003723) endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) ctcctgaccttgtgatccacc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK127552 CCDS2191.1 2q23.3 2007-01-30 2007-01-30 2007-01-30 ENSG00000184898 ENSG00000184898 375287 RNA binding motif (RRM) containing 24790 protein-coding gene gene with protein product chromosome 2 open reading frame 38 C2orf38 NA Standard NM_198557 NM_198557 NA Approved FLJ45645 uc002txh.3 Q6ZSC3 OTTHUMG00000131866 ENST00000331426.5:c.*1288A>G chr2.hg19:g.152106132T>C NA B2RMT5 hg19 CCDS2191.1 0.02 1.581733 CCTxGTG COVERED NOVEL RBM43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254816.2 8 6.318165 KEEP 0 0 0 21 628 TT 0.999869 0.984032 0 - 5 60 153 0 0 10.374788 51 60 1396 98 ENST00000331426.5 0.089286 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 156974838 156974838 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:156974838G>C NA NA AC093375.1 (93750 upstream) : NR4A2 (206105 downstream) NA NA NA ggatggtctcgatctcctgac 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.156974838G>C NA hg19 0.02 -0.228033 CTCxATC COVERED NOVEL 0 7 2.407454 KEEP 2 0 0 8 258 GG 0.99257 0.578599 0 3 25 103 1 0 7.748807 22 60 684 47 0.12 0.58293 CCDC148 130940 __UNKNOWN__ __UNKNOWN__ 2 159196908 159196908 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:159196908A>G ENST00000409187.1 - 6 512 CCDC148_ENST00000409889.1_Intron|CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000283233.5_Intron Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 NA NA endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTCTTGCTCTATGGTGAAACA 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 103 101 102 NA NA NA 2 NA NA 159196908 2203 4300 6503 SO:0001627 intron_variant CCDS33304.1 2q24.1 2007-12-07 ENSG00000153237 ENSG00000153237 130940 25191 protein-coding gene gene with protein product NA Standard NM_138803 NM_138803 NA Approved MGC125588 uc002tzq.3 Q8NFR7 OTTHUMG00000153973 ENST00000409187.1:c.362-3T>C chr2.hg19:g.159196908A>G NA F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2 hg19 0.02 -0.263098 TCTxTGG COVERED NOVEL CCDC148-007 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000333276.1 0 3.6109 KEEP 0 0 0 12 373 AA 0.993634 0.689252 0 - 11 60 366 0 0 33.490831 18 60 511 56 ENST00000409187.1 0.37931 0.693668 BAZ2B 29994 __UNKNOWN__ __UNKNOWN__ 2 160200814 160200814 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:160200814T>C ENST00000392783.2 - 31 5950 BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Intron NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 tttgggaggctgaggcgggtg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032255 CCDS2209.2, CCDS74594.1 2q24.2 2013-01-28 ENSG00000123636 ENSG00000123636 29994 Zinc fingers, PHD-type 963 protein-coding gene gene with protein product 605683 NA 10662543 Standard XM_005246488 NA Approved WALp4 uc002uao.3 Q9UIF8 OTTHUMG00000132027 ENST00000392783.2:c.5454+3182A>G chr2.hg19:g.160200814T>C NA D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8 hg19 CCDS2209.2 0.02 -0.297854 GGCxGAG COVERED NOVEL BAZ2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255037.2 6 3.310142 KEEP 2 0 0 11 349 TT 0.993072 0.775649 0 - 3 60 101 0 0 7.128282 31 60 889 68 ENST00000392783.2 0.088235 0.78106 BAZ2B 29994 __UNKNOWN__ __UNKNOWN__ 2 160450653 160450653 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:160450653T>G ENST00000392783.2 - 1 451 BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000483316.1_Intron|BAZ2B_ENST00000392782.1_Intron NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 ggtggctcactcctgtaatcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032255 CCDS2209.2, CCDS74594.1 2q24.2 2013-01-28 ENSG00000123636 ENSG00000123636 29994 Zinc fingers, PHD-type 963 protein-coding gene gene with protein product 605683 NA 10662543 Standard XM_005246488 NA Approved WALp4 uc002uao.3 Q9UIF8 OTTHUMG00000132027 ENST00000392783.2:c.44+22099A>C chr2.hg19:g.160450653T>G NA D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8 hg19 CCDS2209.2 0.02 -0.192954 CACxCCT COVERED NOVEL BAZ2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255037.2 4 2.407583 KEEP 0 0 0 8 261 TT 0.99257 0.518282 0 - 3 60 96 0 0 7.227397 19 60 562 44 ENST00000392783.2 0.136364 0.522161 RBMS1 5937 __UNKNOWN__ __UNKNOWN__ 2 161251864 161251864 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:161251864A>G ENST00000348849.3 - 2 506 RBMS1_ENST00000392753.3_Intron|RBMS1_ENST00000409075.1_Intron|RBMS1_ENST00000409972.1_Intron|RBMS1_ENST00000474820.1_Intron|RBMS1_ENST00000409289.2_Intron NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 NA NA DNA replication (GO:0006260)|RNA processing (GO:0006396) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) PLA2R1/RBMS1(2) NA ggccgggcgcagtggctcacg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D28482 CCDS2213.1 2q24.2 2013-02-12 ENSG00000153250 ENSG00000153250 5937 RNA binding motif (RRM) containing 9907 protein-coding gene gene with protein product suppressor of cdc 2 (cdc13) with RNA binding motif 2, c-myc gene single strand binding protein 2 602310 chromosome 2 open reading frame 12 C2orf12 NA 8041632, 8134115, 7838710 Standard NM_016836 NM_016836 NA Approved SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764 uc002ubo.3 P29558 OTTHUMG00000132031 ENST00000348849.3:c.76-27962T>C chr2.hg19:g.161251864A>G NA Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20 hg19 CCDS2213.1 0.02 -0.210506 CGCxGTG COVERED NOVEL RBMS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255043.4 2 2.406959 KEEP 0 0 0 8 248 AA 0.99257 0.518282 0 - 3 60 96 0 0 7.227514 19 60 575 50 ENST00000348849.3 0.136364 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 162137759 162137759 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:162137759G>C NA NA AC009299.2 (26580 upstream) : PSMD14 (26789 downstream) NA NA NA TCGCAGAGCGGAGCAGCGGCC 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.162137759G>C NA hg19 0.02 -0.421071 GCGxAGC COVERED NOVEL 0 2 3.308968 KEEP 0 0 0 11 369 GG 0.993072 0.941832 0 8 60 267 0 0 21.372686 37 60 1252 93 0.177778 0.948402 SCN1A 6323 __UNKNOWN__ __UNKNOWN__ 2 166856163 166856163 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:166856163A>T ENST00000409050.1 - 22 4254 AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Intron|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Intron|SCN1A_ENST00000375405.3_Intron P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit NA NA adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018) voltage-gated sodium channel activity (GO:0005248) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909) TTGGTCGTTTATGCTTTATTC 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 110 87 94 NA NA NA 2 NA NA 166856163 692 1582 2274 SO:0001627 intron_variant AB093548 CCDS33316.1, CCDS54413.1, CCDS54414.1 2q24.3 2014-09-17 2007-01-23 ENSG00000144285 ENSG00000144285 6323 Sodium channels, Voltage-gated ion channels / Sodium channels 10585 protein-coding gene gene with protein product 182389 febrile convulsions 3 SCN1, FEB3 NA 8062593, 16382098, 11823106 Standard NM_006920 NM_006920 NA Approved Nav1.1, GEFSP2, HBSCI, NAC1, SMEI uc021vsb.1 P35498 OTTHUMG00000044173 ENST00000409050.1:c.4254+69T>A chr2.hg19:g.166856163A>T NA E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008 hg19 CCDS54414.1 0.02 -0.210434 TTTxTGC COVERED NOVEL SCN1A-003 NOVEL non_canonical_U12|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000333750.1 0 6.619345 KEEP 0 0 0 22 669 AA 0.999879 0.522098 0 - 4 60 103 0 0 7.516444 20 60 557 57 ENST00000409050.1 0.166667 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 169200697 169200697 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:169200697C>G NA NA STK39 (96046 upstream) : RN7SL95P (96718 downstream) NA NA NA ttcgagaccaccctggccaac 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.169200697C>G NA hg19 0.02 -0.114034 CCAxCCT COVERED NOVEL 0 5 2.40726 KEEP 0 0 0 8 279 CC 0.99257 0.194853 0 3 60 99 0 0 8.281866 10 60 333 30 0.230769 0.196312 CERS6 253782 __UNKNOWN__ __UNKNOWN__ 2 169379328 169379328 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:169379328A>G ENST00000305747.6 + 2 757 CERS6_ENST00000392687.4_Intron NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 NA NA ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) NA caaagtgctgagattacaggt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX393696 CCDS2228.1, CCDS58734.1 2q31 2011-07-11 2011-07-08 2011-07-08 ENSG00000172292 ENSG00000172292 253782 Homeoboxes / CERS class 23826 protein-coding gene gene with protein product 615336 LAG1 longevity assurance homolog 6 (S. cerevisiae), LAG1 homolog, ceramide synthase 6 LASS6 NA Standard NM_203463 NM_203463 NA Approved uc002uec.2 Q6ZMG9 OTTHUMG00000132183 ENST00000305747.6:c.171-24778A>G chr2.hg19:g.169379328A>G NA Q32M63|Q8N617 hg19 CCDS2228.1 0.02 -0.184178 CTGxGAT COVERED NOVEL CERS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255235.2 8 3.912446 KEEP 0 0 0 13 431 AA 0.994391 0.421102 0 + 3 60 98 0 0 7.878807 13 60 396 47 ENST00000305747.6 0.1875 0.423478 CERS6 253782 __UNKNOWN__ __UNKNOWN__ 2 169379343 169379343 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:169379343A>G ENST00000305747.6 + 2 757 CERS6_ENST00000392687.4_Intron NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 NA NA ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) NA acaggtgtgaaccactgtgcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX393696 CCDS2228.1, CCDS58734.1 2q31 2011-07-11 2011-07-08 2011-07-08 ENSG00000172292 ENSG00000172292 253782 Homeoboxes / CERS class 23826 protein-coding gene gene with protein product 615336 LAG1 longevity assurance homolog 6 (S. cerevisiae), LAG1 homolog, ceramide synthase 6 LASS6 NA Standard NM_203463 NM_203463 NA Approved uc002uec.2 Q6ZMG9 OTTHUMG00000132183 ENST00000305747.6:c.171-24763A>G chr2.hg19:g.169379343A>G NA Q32M63|Q8N617 hg19 CCDS2228.1 0.02 -0.175418 TGAxCCA COVERED NOVEL CERS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255235.2 8 4.207322 KEEP 0 0 0 14 440 AA 0.995343 0.385603 0 + 3 60 104 0 0 8.478815 13 60 384 46 ENST00000305747.6 0.1875 0.387407 CERS6 253782 __UNKNOWN__ __UNKNOWN__ 2 169625234 169625234 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:169625234A>G ENST00000305747.6 + 10 1589 CERS6_ENST00000392687.4_Intron NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 NA NA ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) NA tggccaacatagtgaaaccct 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX393696 CCDS2228.1, CCDS58734.1 2q31 2011-07-11 2011-07-08 2011-07-08 ENSG00000172292 ENSG00000172292 253782 Homeoboxes / CERS class 23826 protein-coding gene gene with protein product 615336 LAG1 longevity assurance homolog 6 (S. cerevisiae), LAG1 homolog, ceramide synthase 6 LASS6 NA Standard NM_203463 NM_203463 NA Approved uc002uec.2 Q6ZMG9 OTTHUMG00000132183 ENST00000305747.6:c.1003-786A>G chr2.hg19:g.169625234A>G NA Q32M63|Q8N617 hg19 CCDS2228.1 0.02 -0.175393 CATxGTG UNCOVERED NOVEL CERS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255235.2 8 2.708048 KEEP 5 0 0 9 277 AA 0 0 0 + 3 60 93 0 1 7.133766 16 60 467 35 ENST00000305747.6 0.157895 0.387407 NOSTRIN 115677 __UNKNOWN__ __UNKNOWN__ 2 169713072 169713072 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:169713072A>G ENST00000458381.2 + 17 1893 NOSTRIN_ENST00000317647.7_Intron|NOSTRIN_ENST00000421711.2_Intron|NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000444448.2_Intron|NOSTRIN_ENST00000397206.2_Intron|NOSTRIN_ENST00000445023.2_Intron NM_001171631.1 NP_001165102.1 Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking NA NA endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677) kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 gtgacagagcaagactccgtc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ532842 CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1 2q31.1 2013-08-05 2013-08-05 ENSG00000163072 ENSG00000163072 115677 20203 protein-coding gene gene with protein product 607496 nitric oxide synthase trafficker NA 12446846 Standard NM_052946 NM_001171631 NA Approved MGC20702 uc002ueg.3 Q8IVI9 OTTHUMG00000153990 ENST00000458381.2:c.1136-128A>G chr2.hg19:g.169713072A>G NA A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9 hg19 CCDS54415.1 0.02 1.49127 AGCxAGA COVERED NOVEL NOSTRIN-002 NOVEL alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000333357.3 17 12.336623 KEEP 1 0 0 41 1283 AA 1 0.999894 0 + 6 60 163 0 1 9.908321 78 60 2313 186 ENST00000458381.2 0.071429 0.999895 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170082013 170082013 __UNKNOWN__ Intron SNP A A G rs2075246 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:170082013A>G ENST00000263816.3 - 33 5680 NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) CATGGCTCCTACAAAAGAACC 0.483 NA G||| 2862 0.571486 0.77 0.3905 5008 , , NA 18326 0.4812 NA 0.4354 False NA ,,, NA NA NA 2504 0.6646 NA NA NA NA 0 G 3156,1250 426.4+/-341.1 1145,866,192 52 52 52 NA -7.4 0 2 dbSNP_96 52 3606,4994 624.2+/-397.6 751,2104,1445 no intron LRP2 NM_004525.2 1896,2970,1637 GG,GA,AA NA 41.9302,28.3704,48.0086 170082013 6762,6244 2203 4300 6503 SO:0001627 intron_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000263816.3:c.5395-50T>C chr2.hg19:g.170082013A>G NA O00711|Q16215 hg19 CCDS2232.1 0.02 -0.359448 CCTxCAA COVERED NOVEL LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255231.2 2 3.007721 KEEP 0 0 0 10 283 AA 0.992708 0.882393 0 - 3 60 103 0 0 7.073056 38 60 1026 69 ENST00000263816.3 0.073171 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 170622941 170622941 __UNKNOWN__ IGR SNP G G C rs533493219 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:170622941G>C NA NA KLHL23 (14543 upstream) : SSB (32380 downstream) NA NA NA gagaccctgtgtcaaacaaaa 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.170622941G>C NA hg19 0.02 -0.157841 TGTxTCA COVERED NOVEL 0 6 3.002004 KEEP 0 0 0 10 321 GG 0.992708 0.320453 0 3 60 85 1 0 6.882747 10 60 317 35 0.230769 0.322807 METTL5 29081 __UNKNOWN__ __UNKNOWN__ 2 170668861 170668861 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:170668861T>C ENST00000409340.1 - 5 370 METTL5_ENST00000409965.1_Intron|METTL5_ENST00000409837.1_Intron|METTL5_ENST00000308099.3_Intron|METTL5_ENST00000410097.1_Missense_Mutation_p.R233G|METTL5_ENST00000260953.5_Intron|METTL5_ENST00000392640.2_Intron Q9NRN9 METL5_HUMAN methyltransferase like 5 NA NA methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676) breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1) 10 agcgattctcttgcctcagcc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF201938 CCDS33320.1 2q31.1 2011-01-28 ENSG00000138382 ENSG00000138382 29081 25006 protein-coding gene gene with protein product NA 11042152 Standard NM_014168 XM_005246478 NA Approved HSPC133 uc002ufn.3 Q9NRN9 OTTHUMG00000154117 ENST00000409340.1:c.294+105A>G chr2.hg19:g.170668861T>C NA D3DPC9|Q9NVX1 hg19 0.02 3.982722 CTCxTGC COVERED . . . . . . . . . . T 3.063 -0.192793 0.06259 . . ENSG00000138382 ENST00000410097 . . . 0.744 -0.657 0.11432 . . . . . T 0.27594 0.0678 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.22977 -1.0201 6 0.59425 D 0.04 . . . . . 233 B8ZZC8 . G 233 . ENSP00000387056:R233G R - 1 2 METTL5 170377107 0.000000 0.05858 0.006000 0.13384 0.020000 0.10135 -0.009000 0.12765 -0.288000 0.09051 -0.736000 0.03550 AGA NOVEL METTL5-006 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333962.1 9 4.317973 KEEP 1 3 108 52 1618 TT 1 0.999981 0 - 7 60 234 1 0 15.927698 87 60 2518 202 ENST00000409340.1 0.074468 0.999981 UBR3 130507 __UNKNOWN__ __UNKNOWN__ 2 170897593 170897593 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:170897593T>C ENST00000272793.5 + 32 4710 UBR3_ENST00000392631.1_Intron|UBR3_ENST00000418381.1_Intron Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) NA NA embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511) integral component of membrane (GO:0016021) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 tggctcatgcttgtaatcccc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834144 CCDS2238.2 2q31.1 2008-06-23 2008-06-23 2007-11-29 ENSG00000144357 ENSG00000144357 130507 Ubiquitin protein ligase E3 component n-recognins 30467 protein-coding gene gene with protein product 613831 zinc finger protein 650 ZNF650 NA 17462990 Standard NM_172070 NM_172070 NA Approved KIAA2024, DKFZp434P117, FLJ37422 uc010zdi.2 Q6ZT12 OTTHUMG00000132229 ENST00000272793.5:c.4660+98T>C chr2.hg19:g.170897593T>C NA B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96 hg19 0.02 -0.289427 TGCxTGT COVERED NOVEL UBR3-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000255290.2 9 7.523036 KEEP 0 0 0 25 802 TT 0.999931 0.760834 0 + 3 60 96 0 0 6.798446 27 60 802 67 ENST00000272793.5 0.1 0.760887 UBR3 130507 __UNKNOWN__ __UNKNOWN__ 2 170918009 170918009 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:170918009T>A ENST00000272793.5 + 35 5069 UBR3_ENST00000392631.1_Intron|UBR3_ENST00000418381.1_Intron Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) NA NA embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511) integral component of membrane (GO:0016021) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 atggagtctctctctgttgcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834144 CCDS2238.2 2q31.1 2008-06-23 2008-06-23 2007-11-29 ENSG00000144357 ENSG00000144357 130507 Ubiquitin protein ligase E3 component n-recognins 30467 protein-coding gene gene with protein product 613831 zinc finger protein 650 ZNF650 NA 17462990 Standard NM_172070 NM_172070 NA Approved KIAA2024, DKFZp434P117, FLJ37422 uc010zdi.2 Q6ZT12 OTTHUMG00000132229 ENST00000272793.5:c.5019+56T>A chr2.hg19:g.170918009T>A NA B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96 hg19 0.02 1.307032 CTCxCTC COVERED NOVEL UBR3-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000255290.2 9 20.762367 KEEP 0 0 0 69 2183 GT 1 0.999487 0 + 5 60 139 1 1 8.444673 66 60 1982 201 ENST00000272793.5 0.070423 0.999487 AC007277.3 0 __UNKNOWN__ __UNKNOWN__ 2 171513141 171513141 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:171513141A>G ENST00000428156.1 - 0 812 NA NA NA ggctggtctcaaactcctggc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000428156.1: chr2.hg19:g.171513141A>G NA hg19 0.02 -0.271869 CTCxAAC COVERED NOVEL AC007277.3-001 KNOWN basic antisense NA antisense OTTHUMT00000333674.1 6 2.407159 KEEP 0 0 0 8 250 AA 0.99257 0.711986 0 - 3 56 102 0 0 7.444161 26 60 767 61 ENST00000428156.1 0.103448 0.717315 AC007405.4 0 __UNKNOWN__ __UNKNOWN__ 2 171613761 171613761 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:171613761T>C ENST00000442456.1 - 0 65 NA NA NA ctgcccgccttggcctcccaa 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000442456.1: chr2.hg19:g.171613761T>C NA hg19 0.02 -0.324108 CCTxGGC COVERED NOVEL AC007405.4-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000333673.1 9 2.405454 KEEP 0 0 0 8 223 TT 0.99257 0.829507 0 - 4 60 121 1 0 8.837485 27 60 734 64 ENST00000442456.1 0.129032 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 174196927 174196927 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:174196927T>C NA NA MLK7-AS1 (50163 upstream) : AC092573.2 (6140 downstream) NA NA NA tgcttgagcctaggagttcca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.174196927T>C NA hg19 0.02 -0.280572 GCCxAGG COVERED NOVEL 0 11 3.00904 KEEP 3 0 0 10 310 TT 0.992708 0.734278 0 5 60 148 1 0 11.483531 23 60 650 71 0.178571 0.739671 GPR155 151556 __UNKNOWN__ __UNKNOWN__ 2 175299626 175299626 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:175299626A>G ENST00000392552.2 - 0 4069 GPR155_ENST00000392551.2_3'UTR NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 NA NA cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 caaagtgctgagattacaggc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY255528 CCDS2259.1, CCDS74605.1 2q31.1 2012-04-10 ENSG00000163328 ENSG00000163328 151556 22951 protein-coding gene gene with protein product NA 12679517 Standard NM_152529 NM_001033045 NA Approved DEPDC3, DEP.7, FLJ31819, PGR22 uc002uiu.4 Q7Z3F1 OTTHUMG00000132336 ENST00000392552.2:c.*1218T>C chr2.hg19:g.175299626A>G NA B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6 hg19 CCDS2259.1 0.02 -0.342046 CTGxGAT COVERED NOVEL GPR155-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255455.1 7 2.742517 KEEP 0 1 31 20 642 AA 0.999869 0.865632 0 - 3 60 99 1 0 6.926899 31 60 912 73 ENST00000392552.2 0.088235 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 177561328 177561328 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:177561328A>G NA NA RNU6ATAC14P (31834 upstream) : AC092162.1 (64636 downstream) NA NA NA tagtagagacagggtttctcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.177561328A>G NA hg19 0.02 -0.105241 GACxGGG UNCOVERED NOVEL 0 1 2.407095 KEEP 0 0 0 8 250 AA 0.99257 0.138793 0 3 60 83 0 0 7.078385 7 60 207 23 0.3 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 177602106 177602106 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:177602106T>C NA NA RNU6ATAC14P (72612 upstream) : AC092162.1 (23858 downstream) NA NA NA cggtggctcatgcctgtaatc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.177602106T>C NA hg19 0.02 -0.166635 TCAxGCC COVERED NOVEL 0 7 2.407298 KEEP 4 0 0 8 249 TT 0.99257 0.351317 0 3 60 105 0 0 9.001199 9 60 269 45 0.25 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 178483709 178483709 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:178483709C>G NA NA TTC30A (15 upstream) : PDE11A (4270 downstream) NA NA NA CAGGCGTGGCCGCACTGCATG 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.178483709C>G NA hg19 0.02 1.646606 GGCxGCA COVERED NOVEL 0 1 19.855411 KEEP 0 0 0 66 2067 CC 1 0.99993 0 12 60 390 0 0 29.026016 84 60 2517 184 0.125 0.99993 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179501172 179501172 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:179501172C>T ENST00000589042.1 - 225 41506 c.41282G>A c.(41281-41283)cGt>cAt p.R13761H TTN_ENST00000359218.5_Missense_Mutation_p.R4821H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4696H|TTN_ENST00000591111.1_Missense_Mutation_p.R12120H|TTN_ENST00000342175.6_Missense_Mutation_p.R4888H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11193H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12120 Ig-like 94. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTTCCCAAACGTAAAACACA 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 58 56 57 NA NA NA 2 NA NA 179501172 1829 4094 5923 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.41282G>A chr2.hg19:g.179501172C>T ENSP00000467141:p.Arg13761His NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 1.379791 AAAxGTA COVERED . . . . . . . . . . C 11.85 1.761986 0.31228 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.67523 -0.27;-0.27;-0.27;-0.27 5.76 3.95 0.45737 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.69459 0.3113 L 0.58583 1.82 0.09310 N 1 D;D;D;D 0.57571 0.98;0.98;0.98;0.98 P;P;P;P 0.52189 0.692;0.692;0.692;0.692 T 0.61013 -0.7148 9 0.87932 D 0 . 8.1895 0.31359 0.0:0.7109:0.0:0.2891 . 4696;4821;4888;12120 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN H 11193;4696;4888;4821;4696 ENSP00000343764:R11193H;ENSP00000434586:R4696H;ENSP00000340554:R4888H;ENSP00000352154:R4821H ENSP00000340554:R4888H R - 2 0 TTN 179209417 0.983000 0.35010 0.757000 0.31301 0.997000 0.91878 1.501000 0.35693 1.430000 0.47334 0.650000 0.86243 CGT NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 1 22.572506 KEEP 0 0 0 75 2585 CC 1 0.999317 0 - 29 60 872 0 0 78.677559 49 60 1599 223 ENST00000589042.1 0.371795 0.999317 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179549601 179549601 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:179549601C>A ENST00000589042.1 - 130 32779 TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin NA NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAAAAAAGACAGTCTTGAGA 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 40 35 37 NA NA NA 2 NA NA 179549601 1786 4054 5840 SO:0001627 intron_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.32554+31G>T chr2.hg19:g.179549601C>A NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 -0.254343 AGAxAGT COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 0 6.320141 KEEP 0 0 0 21 720 CC 0.999869 0.668436 0 - 15 60 429 0 0 41.329037 14 60 462 59 ENST00000589042.1 0.517241 0.668523 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179577940 179577940 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:179577940G>A ENST00000589042.1 - 93 27145 c.26921C>T c.(26920-26922)aCc>aTc p.T8974I TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T8657I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T7730I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8657 Ig-like 72. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTCAGGGTGGTCTGGTATTT 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 107 99 102 NA NA NA 2 NA NA 179577940 1958 4162 6120 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.26921C>T chr2.hg19:g.179577940G>A ENSP00000467141:p.Thr8974Ile NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 1.646701 GTGxTCT COVERED . . . . . . . . . . G 12.64 1.998462 0.35226 . . ENSG00000155657 ENST00000342992 T 0.63580 -0.05 5.96 5.08 0.68730 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.40570 0.1122 N 0.03000 -0.44 0.80722 D 1 B 0.02656 0.0 B 0.08055 0.003 T 0.34378 -0.9831 9 0.87932 D 0 . 14.9232 0.70856 0.0681:0.0:0.9319:0.0 . 8657 Q8WZ42 TITIN_HUMAN I 7730 ENSP00000343764:T7730I ENSP00000343764:T7730I T - 2 0 TTN 179286185 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.642000 0.54367 1.526000 0.49068 0.655000 0.94253 ACC NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 1 12.026886 KEEP 0 0 0 40 1400 GG 1 0.990964 0 - 21 60 634 0 0 56.204054 41 60 1372 154 ENST00000589042.1 0.33871 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 183736026 183736026 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:183736026A>C NA NA FRZB (4136 upstream) : RNU6-1122P (2542 downstream) NA NA NA gcctgtaatcacatcactttg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.183736026A>C NA hg19 0.02 -0.219264 ATCxCAT COVERED NOVEL 0 6 2.407442 KEEP 0 0 0 8 255 AA 0.99257 0.54878 0 3 60 103 0 0 7.805506 21 60 625 49 0.125 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 183736029 183736029 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:183736029T>G NA NA FRZB (4139 upstream) : RNU6-1122P (2539 downstream) NA NA NA tgtaatcacatcactttggga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.183736029T>G NA hg19 0.02 -0.201723 ACAxCAC COVERED NOVEL 0 6 2.407601 KEEP 0 0 0 8 263 TT 0.99257 0.518282 0 3 60 101 0 0 7.664891 20 60 589 47 0.130435 0.522161 ITGAV 3685 __UNKNOWN__ __UNKNOWN__ 2 187481286 187481286 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:187481286C>T ENST00000261023.3 + 3 590 ITGAV_ENST00000433736.2_Intron|ITGAV_ENST00000374907.3_Intron NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V NA NA angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718) alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) Antithymocyte globulin(DB00098) attacaggcgcgagccaccgc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(58;108 1995 6081) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2292.1, CCDS46470.1, CCDS46471.1 2q31-q32 2012-04-20 2012-04-20 ENSG00000138448 ENSG00000138448 3685 CD molecules, Integrins 6150 protein-coding gene gene with protein product 193210 antigen identified by monoclonal antibody L230, vitronectin receptor, integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) VNRA, MSK8, VTNR NA 2454952 Standard NM_002210 NM_001144999 NA Approved CD51 uc002upq.4 P06756 OTTHUMG00000132635 ENST00000261023.3:c.317-5780C>T chr2.hg19:g.187481286C>T NA A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15 hg19 CCDS2292.1 0.02 -0.122747 GCGxGAG COVERED NOVEL ITGAV-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255882.2 14 2.993596 KEEP 18 0 0 10 315 CC 0.99257 0.194853 0 + 3 60 90 0 0 7.382761 10 60 304 54 ENST00000261023.3 0.230769 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 189092412 189092412 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:189092412G>A NA NA AC068718.2 (485011 upstream) : AC068718.1 (134 downstream) NA NA NA ATGGGTTAAAGGTCATTGGAG 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.189092412G>A NA hg19 0.02 -0.210511 AAAxGTC COVERED NOVEL 0 1 4.213808 KEEP 0 0 0 14 502 GG 0.995343 0.519729 0 11 60 327 0 0 30.756771 13 60 441 50 0.458333 0.522161 GULP1 51454 __UNKNOWN__ __UNKNOWN__ 2 189454789 189454789 __UNKNOWN__ Intron SNP G G T rs556958861 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:189454789G>T ENST00000409580.1 + 12 1557 GULP1_ENST00000359135.3_Intron|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000409609.1_Intron|GULP1_ENST00000409830.1_Intron|GULP1_ENST00000409843.1_Intron Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 NA NA apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165) cytoplasm (GO:0005737) signal transducer activity (GO:0004871) endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) aacctccaccgcccgggctca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(178;563 2065 20199 42378 52815) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF191771 CCDS2295.1, CCDS58742.1, CCDS58743.1 2q32.3-q33 2008-02-05 ENSG00000144366 ENSG00000144366 51454 18649 protein-coding gene gene with protein product 608165 NA 11729193 Standard NM_016315 NM_001252668 NA Approved CED6, CED-6, GULP uc010fru.3 Q9UBP9 OTTHUMG00000132647 ENST00000409580.1:c.843+2113G>T chr2.hg19:g.189454789G>T NA B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3 hg19 CCDS2295.1 0.02 -0.385921 ACCxCCC COVERED NOVEL GULP1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335722.1 12 6.922635 KEEP 1 0 0 23 824 GG 0.999892 0.918072 0 + 4 60 110 0 0 7.097351 40 60 1314 83 ENST00000409580.1 0.090909 0.918171 ASNSD1 54529 __UNKNOWN__ __UNKNOWN__ 2 190528230 190528230 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:190528230T>C ENST00000260952.4 + 2 191 ASNSD1_ENST00000607829.1_Intron|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607535.1_Intron|ASNSD1_ENST00000607690.1_Intron NM_019048.2 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 NA NA asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541) asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) ccgcccgccttggcctcccga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY116969 CCDS2300.1 2q32.2 2012-09-20 ENSG00000138381 ENSG00000138381 54529 24910 protein-coding gene gene with protein product NA Standard NM_019048 NM_019048 NA Approved NS3TP1, FLJ20752, NBLA00058 uc002uqt.3 Q9NWL6 OTTHUMG00000132665 ENST00000260952.4:c.-222-397T>C chr2.hg19:g.190528230T>C NA D3DPH6|Q3LIC3|Q4ZG45 hg19 CCDS2300.1 0.02 -0.254191 CCTxGGC COVERED NOVEL ASNSD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255919.3 2 2.405602 KEEP 0 0 0 8 225 TT 0.99257 0.663556 0 + 4 60 128 0 0 9.658835 25 60 696 53 ENST00000260952.4 0.137931 0.668523 TMEFF2 23671 __UNKNOWN__ __UNKNOWN__ 2 192946795 192946795 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:192946795A>G ENST00000392314.1 - 5 831 TMEFF2_ENST00000272771.5_Intron Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 NA NA extracellular region (GO:0005576)|integral component of membrane (GO:0016021) breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) caaagtgctgagattacaggc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(50;1277 1381 28487 47072) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB017269 CCDS2314.1 2q32.3 2010-05-04 ENSG00000144339 ENSG00000144339 23671 11867 protein-coding gene gene with protein product transmembrane protein TENB2, tomoregulin, cancer/testis antigen family 120, member 2 605734 NA 10903839 Standard NM_016192 NM_016192 NA Approved TENB2, HPP1, TR, TPEF, CT120.2 uc002utc.3 Q9UIK5 OTTHUMG00000132723 ENST00000392314.1:c.440-24294T>C chr2.hg19:g.192946795A>G NA Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65 hg19 0.02 -0.210515 CTGxGAT COVERED NOVEL TMEFF2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000256066.1 7 3.009548 KEEP 0 0 0 10 329 AA 0.992708 0.518353 0 - 3 60 103 0 0 7.864666 20 60 612 50 ENST00000392314.1 0.130435 0.522161 STK17B 9262 __UNKNOWN__ __UNKNOWN__ 2 197024253 197024253 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:197024253T>C ENST00000263955.4 - 3 409 STK17B_ENST00000409228.1_Intron NM_004226.3 NP_004217.1 O94768 ST17B_HUMAN serine/threonine kinase 17b NA NA apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468) actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15 OV - Ovarian serous cystadenocarcinoma(117;0.141) ccaggctggtttcaaactcct 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011421 CCDS2315.1 2q33.1 2008-02-05 2007-02-12 ENSG00000081320 ENSG00000081320 9262 11396 protein-coding gene gene with protein product death-associated protein kinase-related 2 604727 serine/threonine kinase 17b (apoptosis-inducing) NA 9786912 Standard NM_004226 NA Approved DRAK2 uc002utk.3 O94768 OTTHUMG00000132735 ENST00000263955.4:c.123-2878A>G chr2.hg19:g.197024253T>C NA hg19 CCDS2315.1 0.02 -0.210497 GGTxTCA COVERED NOVEL STK17B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256092.2 8 2.407106 KEEP 0 0 0 8 247 TT 0.99257 0.518282 0 - 3 60 103 0 0 7.926838 19 60 562 42 ENST00000263955.4 0.136364 0.522161 PGAP1 80055 __UNKNOWN__ __UNKNOWN__ 2 197703751 197703751 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:197703751C>A ENST00000354764.4 - 0 5090 NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 NA NA anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578) breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 ctggtgacagcgtgagactcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2318.1 2q33.1 2014-03-03 ENSG00000197121 ENSG00000197121 80055 25712 protein-coding gene gene with protein product GPI inositol-deacylase 611655 NA 14734546, 17711852, 24482476 Standard NM_024989 XM_005246866 NA Approved FLJ12377, Bst1, SPG67 uc002utw.3 Q75T13 OTTHUMG00000132743 ENST00000354764.4:c.*2207G>T chr2.hg19:g.197703751C>A NA Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24 hg19 CCDS2318.1 0.02 1.341963 CAGxGTG COVERED NOVEL PGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256103.5 10 4.514995 KEEP 0 0 0 15 560 CC 0.99649 0.994697 0 - 6 60 181 1 2 12.237416 60 60 2007 116 ENST00000354764.4 0.090909 0.9982 ANKRD44 91526 __UNKNOWN__ __UNKNOWN__ 2 198037553 198037553 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:198037553C>G ENST00000328737.2 - 2 113 ANKRD44_ENST00000539527.1_Intron|ANKRD44_ENST00000409153.1_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000409919.1_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 NA NA NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) gcctcccaaactgttgggatt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097086 CCDS33355.1, CCDS33355.2, CCDS74619.1 2q33.1 2013-01-10 ENSG00000065413 ENSG00000065413 91526 Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing 25259 protein-coding gene gene with protein product protein phosphatase 6 ankyrin repeat subunit B NA Standard NM_153697 NM_153697 NA Approved PP6-ARS-B uc021vuj.1 Q8N8A2 OTTHUMG00000154411 ENST00000328737.2:c.36+14193G>C chr2.hg19:g.198037553C>G NA Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4 hg19 0.02 -0.219306 AAAxTGT COVERED NOVEL ANKRD44-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000335113.1 8 3.009856 KEEP 0 0 0 10 358 CC 0.992708 0.548856 0 - 3 60 95 0 0 7.065824 20 60 678 48 ENST00000328737.2 0.130435 0.552887 HSPD1 3329 __UNKNOWN__ __UNKNOWN__ 2 198352010 198352010 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:198352010A>G ENST00000388968.3 - 12 1837 HSPD1_ENST00000345042.2_Intron NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) NA NA 'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032) cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082) NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) ggtggctcacacctgtaatcc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M34664 CCDS33357.1 2q33.1 2011-09-02 2002-08-29 ENSG00000144381 ENSG00000144381 3329 Heat Shock Proteins / Chaperonins 5261 protein-coding gene gene with protein product 118190 heat shock 60kD protein 1 (chaperonin), spastic paraplegia 13 (autosomal dominant) SPG13 NA 1980192, 11898127 Standard NM_002156 NM_002156 NA Approved GROEL, HSP60 uc002uui.3 P10809 OTTHUMG00000154463 ENST00000388968.3:c.1570-88T>C chr2.hg19:g.198352010A>G NA B2R5M6|B7Z712|Q38L19|Q9UCR6 hg19 CCDS33357.1 0.02 -0.26208 CACxCCT COVERED NOVEL HSPD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335324.2 2 4.512023 KEEP 0 0 0 15 435 AA 0.99649 0.691234 0 - 4 60 106 0 0 7.620621 24 60 669 50 ENST00000388968.3 0.142857 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 200972199 200972199 __UNKNOWN__ IGR SNP G G A rs533385789 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:200972199G>A NA NA C2orf47 (143351 upstream) : SPATS2L (198416 downstream) NA NA NA gaaggaggaggaggaggagga 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.200972199G>A NA hg19 0.02 -0.192722 GAGxAGG COVERED NOVEL 0 6 2.407271 KEEP 1 0 0 8 258 GG 0.99257 0.454356 0 3 60 93 0 1 7.135787 16 60 488 38 0.157895 0.457757 ORC2 4999 __UNKNOWN__ __UNKNOWN__ 2 201799160 201799160 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:201799160T>C ENST00000234296.2 - 10 958 NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 NA NA DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886) DNA replication origin binding (GO:0003688) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 acctcagccttccaagtagct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2334.1 2q33 2010-10-12 2010-10-12 2010-10-12 ENSG00000115942 ENSG00000115942 4999 8488 protein-coding gene gene with protein product 601182 origin recognition complex, subunit 2 (yeast homolog)-like, origin recognition complex, subunit 2-like (yeast), origin recognition complex, subunit 2 homolog (yeast) ORC2L NA 8808289 Standard NM_006190 NM_006190 NA Approved uc002uwr.3 Q13416 OTTHUMG00000132783 ENST00000234296.2:c.709-463A>G chr2.hg19:g.201799160T>C NA Q13204|Q53TX5 hg19 CCDS2334.1 0.02 -0.254336 CCTxCCA COVERED NOVEL ORC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256191.2 12 2.406044 KEEP 0 0 0 8 243 TT 0.99257 0.663556 0 - 3 60 96 0 0 6.995113 23 60 672 49 ENST00000234296.2 0.115385 0.668523 AC005037.3 0 __UNKNOWN__ __UNKNOWN__ 2 201835491 201835491 __UNKNOWN__ RNA SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:201835491G>C ENST00000413848.1 + 0 368 AC005037.3_ENST00000332935.6_RNA NA NA NA gtcaggagatggagaccatcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000413848.1: chr2.hg19:g.201835491G>C NA hg19 0.02 -0.17544 GATxGAG COVERED NOVEL AC005037.3-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000336586.1 4 2.708757 KEEP 1 0 0 9 309 GG 0.99254 0.420319 0 + 3 60 93 0 0 7.061322 17 60 558 40 ENST00000413848.1 0.15 0.423478 FAM126B 285172 __UNKNOWN__ __UNKNOWN__ 2 201929018 201929018 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:201929018G>C ENST00000418596.3 - 1 60 NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B NA NA intracellular (GO:0005622) endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 TCCAACAAAGGGTTTTAATGT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC039295 CCDS2335.1 2q33.1 2008-10-02 ENSG00000155744 ENSG00000155744 285172 28593 protein-coding gene gene with protein product NA 12477932 Standard NM_173822 NM_173822 NA Approved MGC39518, HYCC2 uc002uws.4 Q8IXS8 OTTHUMG00000132823 ENST00000418596.3:c.127+7314C>G chr2.hg19:g.201929018G>C NA B2RCG7|Q4ZG87|Q53TX6 hg19 CCDS2335.1 0.02 3.391471 AAGxGTT COVERED NOVEL FAM126B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256285.3 10 14.821314 KEEP 11 1 36 62 2101 GG 1 0.999999 0 - 7 25 231 0 0 14.784557 116 60 3856 277 ENST00000418596.3 0.056911 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 201980139 201980139 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:201980139G>A NA NA RP11-13J8.1 (12280 upstream) : CFLAR (687 downstream) NA NA NA tcacgcctgtgatcccagcac 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.201980139G>A NA hg19 0.02 -0.166637 TGTxATC COVERED NOVEL 0 4 2.407931 KEEP 0 0 0 8 291 GG 0.99257 0.351317 0 4 60 105 0 0 8.268868 14 60 469 39 0.222222 0.353947 CFLAR 8837 __UNKNOWN__ __UNKNOWN__ 2 202028875 202028875 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:202028875T>C ENST00000309955.3 + 0 2137 CFLAR_ENST00000341582.6_3'UTR|CFLAR_ENST00000355558.4_3'UTR|CFLAR_ENST00000443227.1_3'UTR NM_001202515.1|NM_003879.5 NP_001189444.1|NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032) CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342) cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 gtattcccagttacttgggag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(16;548 657 22190 32864 42338) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF005774 CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1 2q33-q34 2014-01-30 ENSG00000003402 ENSG00000003402 8837 Endogenous ligands 1876 protein-coding gene gene with protein product 603599 CASP8AP1 NA 9208847, 9217161 Standard NM_003879 NM_003879 NA Approved CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP uc002uxb.4 O15519 OTTHUMG00000132819 ENST00000309955.3:c.*179T>C chr2.hg19:g.202028875T>C NA B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1 hg19 CCDS2337.1 0.02 5.888995 CAGxTAC COVERED NOVEL CFLAR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256276.3 27 5.920121 KEEP 1 3 98 54 1692 TT 1 1 0 + 6 60 205 0 0 12.523455 139 60 3922 286 ENST00000309955.3 0.041379 1 CFLAR 8837 __UNKNOWN__ __UNKNOWN__ 2 202040099 202040099 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:202040099G>C ENST00000309955.3 + 0 13361 NM_001202515.1|NM_003879.5 NP_001189444.1|NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032) CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342) cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 gtaatcccaggactttgggag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(16;548 657 22190 32864 42338) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF005774 CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1 2q33-q34 2014-01-30 ENSG00000003402 ENSG00000003402 8837 Endogenous ligands 1876 protein-coding gene gene with protein product 603599 CASP8AP1 NA 9208847, 9217161 Standard NM_003879 NM_003879 NA Approved CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP uc002uxb.4 O15519 OTTHUMG00000132819 ENST00000309955.3:c.*11403G>C chr2.hg19:g.202040099G>C NA B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1 hg19 CCDS2337.1 0.02 -0.131588 CAGxACT COVERED NOVEL CFLAR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256276.3 4 2.708455 KEEP 0 0 0 9 303 GG 0.99254 0.227464 0 + 3 60 101 0 0 8.600932 9 60 302 34 ENST00000309955.3 0.25 0.229173 CASP10 843 __UNKNOWN__ __UNKNOWN__ 2 202068310 202068310 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:202068310A>G ENST00000286186.6 + 6 1119 CASP10_ENST00000492363.1_Intron|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000360132.3_Intron NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981) CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342) cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 gattacaggcatgagccaccg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60519 CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1 2q33-q34 2014-09-17 2005-08-17 ENSG00000003400 ENSG00000003400 843 3.4.22.63 Caspases 1500 protein-coding gene gene with protein product 601762 caspase 10, apoptosis-related cysteine protease NA 8755496 Standard NM_032977 NM_032974 NA Approved MCH4 uc002uxj.1 Q92851 OTTHUMG00000132818 ENST00000286186.6:c.685-143A>G chr2.hg19:g.202068310A>G NA Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7 hg19 CCDS2340.1 0.02 1.780356 GGCxTGA COVERED NOVEL CASP10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256272.2 9 10.224923 KEEP 0 0 0 34 1027 AA 0.999998 0.986152 0 + 4 60 130 0 0 8.721001 50 60 1477 109 ENST00000286186.6 0.074074 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 202484866 202484866 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:202484866C>T NA NA ALS2CR11 (965 upstream) : TMEM237 (40 downstream) NA NA NA acccttgaacctaaaagttaa 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.202484866C>T NA hg19 0.02 -0.192979 AACxTAA COVERED NOVEL 0 2 2.407781 KEEP 0 0 0 8 276 CC 0.99257 0.454356 0 4 60 115 0 0 8.969283 17 60 570 37 0.190476 0.457757 MPP4 58538 __UNKNOWN__ __UNKNOWN__ 2 202512634 202512634 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:202512634T>A ENST00000409143.1 - 16 1647 MPP4_ENST00000315506.7_Intron|MPP4_ENST00000409474.3_Intron|MPP4_ENST00000396886.3_Intron|MPP4_ENST00000359962.5_Intron|MPP4_ENST00000447335.2_Intron|MPP4_ENST00000428900.2_Intron Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) NA NA protein localization to synapse (GO:0035418) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734) kidney(1)|lung(11) 12 gctggagtgctgtggtgcaat 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF316032 CCDS46491.1 2q33.2 2008-05-15 ENSG00000082126 ENSG00000082126 58538 13680 protein-coding gene gene with protein product 606575 DLG6 NA 11414766 Standard NM_033066 NA Approved uc002uyk.4 Q96JB8 OTTHUMG00000154525 ENST00000409143.1:c.1411-86A>T chr2.hg19:g.202512634T>A NA C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44 hg19 0.02 -0.184188 TGCxGTG COVERED NOVEL MPP4-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000335779.1 2 2.708289 KEEP 0 0 0 9 287 TT 0.99254 0.420319 0 - 4 60 122 0 0 9.763208 16 60 477 39 ENST00000409143.1 0.2 0.423478 ALS2 57679 __UNKNOWN__ __UNKNOWN__ 2 202625026 202625026 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:202625026C>T ENST00000264276.6 - 4 1486 ALS2_ENST00000467448.1_3'UTR NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) NA NA behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050) centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982) protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 agagcaagaccccatctcaaa 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB053305 CCDS42800.1, CCDS46492.1 2q33-q35 2014-09-17 2004-06-23 ENSG00000003393 ENSG00000003393 57679 Rho guanine nucleotide exchange factors 443 protein-coding gene gene with protein product alsin 606352 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6 ALS2CR6 NA 11586298 Standard NM_020919 NM_020919 NA Approved uc002uyo.3 Q96Q42 OTTHUMG00000154507 ENST00000264276.6:c.1113+577G>A chr2.hg19:g.202625026C>T NA Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9 hg19 CCDS42800.1 0.02 1.491154 GACxCCA COVERED NOVEL ALS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335562.3 13 2.341359 KEEP 0 1 32 19 648 CC 0.999863 0.981821 0 - 4 60 125 0 0 8.471258 43 60 1401 93 ENST00000264276.6 0.085106 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 202887404 202887404 __UNKNOWN__ IGR SNP G G A rs565637955 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:202887404G>A NA NA AC007358.1 (69345 upstream) : RP11-107N15.1 (10088 downstream) NA NA NA ccgacatggcgccactgcact 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.202887404G>A NA hg19 0.02 -0.166663 GGCxCCA COVERED NOVEL 0 6 2.708754 KEEP 0 0 0 9 310 GG 0.99254 0.351306 0 3 60 91 0 0 7.09184 14 60 463 41 0.176471 0.353947 AC079354.1 0 __UNKNOWN__ __UNKNOWN__ 2 202943263 202943263 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:202943263T>C ENST00000409515.3 + 2 708 AC079354.1_ENST00000541917.1_Intron|AC079354.1_ENST00000295844.3_Intron NA NA NA ccacccaccttggcctcccaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000409515.3:c.708+3365T>C chr2.hg19:g.202943263T>C NA hg19 0.02 -0.166628 CCTxGGC COVERED NOVEL AC079354.1-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000336161.2 2 2.40742 KEEP 0 0 0 8 257 TT 0.99257 0.351317 0 + 3 60 98 0 0 7.633593 16 60 464 40 ENST00000409515.3 0.157895 0.353947 AC079354.1 0 __UNKNOWN__ __UNKNOWN__ 2 202950688 202950688 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:202950688C>T ENST00000409515.3 + 3 708 AC079354.1_ENST00000541917.1_Intron|AC079354.1_ENST00000295844.3_Intron NA NA NA gtcaggagttcgagaccagcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000409515.3:c.709-4805C>T chr2.hg19:g.202950688C>T NA hg19 0.02 -0.1228 GTTxGAG UNCOVERED NOVEL AC079354.1-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000336161.2 8 2.708334 KEEP 13 0 0 9 290 CC 0 0 0 + 3 40 87 0 0 7.33223 8 60 254 48 ENST00000409515.3 0.272727 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 203044743 203044743 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:203044743T>C NA NA AC079354.5 (629 upstream) : SUMO1 (26159 downstream) NA NA NA gcctgtaatctcagcactttg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.203044743T>C NA hg19 0.02 -0.429785 ATCxCAG COVERED NOVEL 0 6 2.442517 KEEP 0 1 34 20 647 TT 0.999869 0.954366 0 3 60 105 1 0 7.272232 38 60 1148 94 0.073171 0.954491 SUMO1 7341 __UNKNOWN__ __UNKNOWN__ 2 203096321 203096321 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:203096321A>C ENST00000409498.2 - 2 240 SUMO1_ENST00000392246.2_Intron|SUMO1_ENST00000392244.3_Intron|SUMO1_ENST00000409368.1_Intron|SUMO1_ENST00000392245.1_Intron|SUMO1_ENST00000409181.1_Intron|SUMO1_ENST00000409712.1_Intron|SUMO1_ENST00000409205.1_Intron P63165 SUMO1_HUMAN small ubiquitin-like modifier 1 NA NA cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880) cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202) poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625) NA tgcactccagactgggtgaca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U38784 CCDS2352.1, CCDS46493.1 2q33 2013-06-05 2013-06-05 2004-05-19 ENSG00000116030 ENSG00000116030 7341 12502 protein-coding gene gene with protein product 601912 ubiquitin-like 1 (sentrin), SMT3 suppressor of mif two 3 homolog 1 (yeast), SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) UBL1 NA 8812453, 8906799 Standard NM_003352 NM_003352 NA Approved PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10 uc002uyz.1 P63165 OTTHUMG00000132839 ENST00000409498.2:c.104+1979T>G chr2.hg19:g.203096321A>C NA A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068 hg19 0.02 1.646309 CAGxCTG COVERED NOVEL SUMO1-003 PUTATIVE non_canonical_TEC|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000327872.3 13 10.467638 KEEP 1 1 35 47 1514 AA 1 0.99994 0 - 7 60 223 1 0 15.545081 68 60 2032 190 ENST00000409498.2 0.093333 0.99994 WDR12 55759 __UNKNOWN__ __UNKNOWN__ 2 203748559 203748559 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:203748559T>C ENST00000261015.4 - 11 1738 NM_018256.3 NP_060726.3 WD repeat domain 12 NA NA endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 ttttttgagatggagtcttgc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF242546 CCDS2356.1 2q33.1 2013-01-09 ENSG00000138442 ENSG00000138442 55759 WD repeat domain containing 14098 protein-coding gene gene with protein product NA 16043514, 17353269 Standard NM_018256 NM_018256 NA Approved YTM1, FLJ10881 uc002uzl.3 Q9GZL7 OTTHUMG00000132855 ENST00000261015.4:c.989-95A>G chr2.hg19:g.203748559T>C NA hg19 CCDS2356.1 0.02 1.806623 AGAxGGA COVERED NOVEL WDR12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256329.4 9 8.124184 KEEP 1 0 0 27 854 TT 0.999988 0.979514 0 - 4 60 124 0 0 8.18903 48 70 1448 101 ENST00000261015.4 0.076923 0.979526 NBEAL1 65065 __UNKNOWN__ __UNKNOWN__ 2 204084554 204084554 __UNKNOWN__ 3'UTR SNP T T C rs535501896 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:204084554T>C ENST00000449802.1 + 0 10895 NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 NA NA NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 gcactccagcttgggcaacag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY172970 CCDS46495.1 2q33 2013-01-10 ENSG00000144426 ENSG00000144426 65065 WD repeat domain containing 20681 protein-coding gene gene with protein product 609816 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16 ALS2CR17, ALS2CR16 NA 15193433 Standard NM_001114132 NA Approved MGC164581 uc002uzt.3 Q6ZS30 OTTHUMG00000154129 ENST00000449802.1:c.*2477T>C chr2.hg19:g.204084554T>C NA A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31 hg19 CCDS46495.1 0.02 1.742775 AGCxTGG COVERED NOVEL NBEAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333982.4 16 6.554988 KEEP 0 1 38 35 1128 TT 0.999999 0.999677 0 + 7 60 234 1 0 16.562193 70 70 2097 169 ENST00000449802.1 0.090909 0.999678 ABI2 10152 __UNKNOWN__ __UNKNOWN__ 2 204219968 204219968 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:204219968T>G ENST00000422511.2 + 2 148 ABI2_ENST00000261016.6_Intron|ABI2_ENST00000295851.5_Intron|ABI2_ENST00000261017.5_Intron|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000424558.1_Intron Q9NYB9 ABI2_HUMAN abl-interactor 2 NA NA actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209) cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625) breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15 ggtggctcattcctgtaatcc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF260261 CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1 2q33 2010-09-20 2009-07-23 ENSG00000138443 ENSG00000138443 10152 24011 protein-coding gene gene with protein product 606442 NA 7590236, 10964520 Standard NM_005759 XM_005246217 NA Approved ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2 uc002uzz.3 Q9NYB9 OTTHUMG00000132879 ENST00000422511.2:c.118-11632T>G chr2.hg19:g.204219968T>G NA B4DSN1|Q13147|Q13249|Q13801|Q9BV70 hg19 0.02 -0.377124 CATxCCT COVERED NOVEL ABI2-007 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000336179.2 3 6.75577 KEEP 0 1 36 35 1124 TT 1 0.918171 0 + 4 60 130 0 0 9.219132 37 60 1111 90 ENST00000422511.2 0.097561 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 205025332 205025332 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:205025332A>G NA NA AC009965.2 (50760 upstream) : AC009498.1 (67527 downstream) NA NA NA tgtaatctcaacactttggga 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.205025332A>G NA hg19 0.02 -0.228053 TCAxCAC COVERED NOVEL 0 11 2.406812 KEEP 0 0 0 8 248 AA 0.99257 0.578599 0 5 60 166 0 0 13.865663 17 60 531 53 0.227273 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 206738855 206738855 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:206738855G>A NA NA NRP2 (75998 upstream) : RN7SKP178 (26498 downstream) NA NA NA tcttggtctcgctgacttcaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.206738855G>A NA hg19 0.02 -0.236806 CTCxCTG COVERED NOVEL 0 6 4.514772 KEEP 1 0 0 15 541 GG 0.99649 0.639096 0 3 60 94 0 0 6.849459 22 60 711 61 0.12 0.641347 NDUFS1 4719 __UNKNOWN__ __UNKNOWN__ 2 206987289 206987289 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:206987289A>C ENST00000233190.6 - 0 4070 NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) NA NA apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747) 2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ggaggtggtgattgcagtgag 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1 2q33-q34 2011-07-04 2002-08-29 ENSG00000023228 ENSG00000023228 4719 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7707 protein-coding gene gene with protein product complex I 75kDa subunit, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial 157655 NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase) NA 1935949 Standard NM_005006 NM_005006 NA Approved CI-75k uc010ziq.2 P28331 OTTHUMG00000132892 ENST00000233190.6:c.*1620T>G chr2.hg19:g.206987289A>C NA B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9 hg19 CCDS2366.1 0.02 1.269767 GTGxTTG COVERED NOVEL NDUFS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256391.4 5 15.323324 KEEP 0 0 0 51 1549 AA 1 0.998465 0 - 5 60 147 0 0 9.273596 65 60 1892 138 ENST00000233190.6 0.071429 0.998465 NDUFS1 4719 __UNKNOWN__ __UNKNOWN__ 2 206987511 206987511 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:206987511A>G ENST00000233190.6 - 0 3848 NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) NA NA apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747) 2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ccaggctggaatgcagtggcg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1 2q33-q34 2011-07-04 2002-08-29 ENSG00000023228 ENSG00000023228 4719 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7707 protein-coding gene gene with protein product complex I 75kDa subunit, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial 157655 NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase) NA 1935949 Standard NM_005006 NM_005006 NA Approved CI-75k uc010ziq.2 P28331 OTTHUMG00000132892 ENST00000233190.6:c.*1398T>C chr2.hg19:g.206987511A>G NA B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9 hg19 CCDS2366.1 0.02 1.725388 GGAxTGC COVERED NOVEL NDUFS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256391.4 18 11.820437 KEEP 0 3 99 74 2172 AA 1 0.999726 0 - 4 60 132 0 0 8.195626 77 60 2134 196 ENST00000233190.6 0.049383 0.999726 NDUFS1 4719 __UNKNOWN__ __UNKNOWN__ 2 207012667 207012667 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:207012667T>A ENST00000233190.6 - 6 605 NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000457011.1_Intron|NDUFS1_ENST00000440274.1_Intron|NDUFS1_ENST00000449699.1_Intron|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000455934.2_Intron NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) NA NA apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747) 2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 tttgagatggtgtctcgctct 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1 2q33-q34 2011-07-04 2002-08-29 ENSG00000023228 ENSG00000023228 4719 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7707 protein-coding gene gene with protein product complex I 75kDa subunit, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial 157655 NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase) NA 1935949 Standard NM_005006 NM_005006 NA Approved CI-75k uc010ziq.2 P28331 OTTHUMG00000132892 ENST00000233190.6:c.339-109A>T chr2.hg19:g.207012667T>A NA B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9 hg19 CCDS2366.1 0.02 4.491587 TGGxGTC COVERED NOVEL NDUFS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256391.4 19 23.331873 KEEP 0 2 61 99 3077 TT 1 1 0 - 11 60 309 2 0 18.965121 145 60 4276 425 ENST00000233190.6 0.070513 1 KLF7 8609 __UNKNOWN__ __UNKNOWN__ 2 207939649 207939649 __UNKNOWN__ 3'UTR SNP G G A rs146154336 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:207939649G>A ENST00000309446.6 - 0 7573 NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) NA NA axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) acacacatacgcacacacaca 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB015132 CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1 2q32 2013-01-08 ENSG00000118263 ENSG00000118263 8609 Kruppel-like transcription factors, Zinc fingers, C2H2-type 6350 protein-coding gene gene with protein product 604865 NA 9774444 Standard NM_003709 NM_003709 NA Approved UKLF uc010zix.2 O75840 OTTHUMG00000132935 ENST00000309446.6:c.*6288C>T chr2.hg19:g.207939649G>A NA B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51 hg19 CCDS2373.1 0.02 1.059424 TACxCAC COVERED NOVEL KLF7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256466.2 16 12.443201 KEEP 0 3 72 67 2262 GG 1 0.999919 0 - 5 60 141 2 1 8.068756 87 60 2820 208 ENST00000309446.6 0.054348 0.999919 AC007879.5 0 __UNKNOWN__ __UNKNOWN__ 2 208372808 208372808 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:208372808C>T ENST00000418850.1 - 0 256 AC007879.5_ENST00000412387.1_RNA NA NA NA cccaaagtgccgggattacag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000418850.1: chr2.hg19:g.208372808C>T NA hg19 0.02 -0.254356 TGCxGGG COVERED NOVEL AC007879.5-004 KNOWN basic antisense NA antisense OTTHUMT00000337088.1 7 2.708798 KEEP 0 0 0 9 315 CC 0.99254 0.663536 0 - 4 60 122 0 0 9.123525 24 60 760 53 ENST00000418850.1 0.142857 0.668523 CCNYL1 151195 __UNKNOWN__ __UNKNOWN__ 2 208619679 208619679 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:208619679T>A ENST00000339882.5 + 0 2330 CCNYL1_ENST00000295414.3_3'UTR NM_001142300.1 NP_001135772.1 Q8N7R7 CCYL1_HUMAN cyclin Y-like 1 NA NA regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079) endometrium(1)|large_intestine(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14) aggctgaggctggaggattgc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095479 CCDS2377.1, CCDS46503.1 2q33.3 2008-02-05 ENSG00000163249 ENSG00000163249 151195 26868 protein-coding gene gene with protein product NA Standard NM_152523 NM_152523 NA Approved FLJ40432 uc002vci.3 Q8N7R7 OTTHUMG00000132946 ENST00000339882.5:c.*1257T>A chr2.hg19:g.208619679T>A NA Q6NX60 hg19 CCDS46503.1 0.02 1.210571 GGCxGGA COVERED NOVEL CCNYL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337061.1 18 15.343062 KEEP 2 0 0 51 1564 TT 1 0.999881 0 + 5 49 149 0 0 9.013154 81 60 2403 180 ENST00000339882.5 0.05814 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 208626276 208626276 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:208626276G>A NA NA CCNYL1 (5378 upstream) : FZD5 (1033 downstream) NA NA NA tggcctcccagagtgctagga 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.208626276G>A NA hg19 0.02 1.350744 CCAxAGT COVERED NOVEL 0 5 3.414556 KEEP 0 3 90 43 1515 GG 1 0.997898 0 5 60 147 0 0 9.582299 56 60 1879 146 0.081967 0.997898 MAP2 4133 __UNKNOWN__ __UNKNOWN__ 2 210594404 210594404 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:210594404A>G ENST00000360351.4 + 14 5661 MAP2_ENST00000447185.1_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MTAP2_HUMAN microtubule-associated protein 2 NA NA axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175) cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399) dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229) TCATATGAGGAAATGATATGG 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(27;423 979 28787 29963) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2384.1, CCDS2385.1, CCDS33369.1 2q34-q35 2008-05-27 ENSG00000078018 ENSG00000078018 4133 A-kinase anchor proteins 6839 protein-coding gene gene with protein product 157130 NA 3103857, 7479905 Standard NM_001039538 XM_005246554 NA Approved MAP2A, MAP2B, MAP2C uc002vde.1 P11137 OTTHUMG00000132962 ENST00000360351.4:c.5156-170A>G chr2.hg19:g.210594404A>G NA Q17S04|Q8IUX2|Q99975|Q99976 hg19 CCDS2384.1 0.02 -0.09648 AGGxAAT UNCOVERED NOVEL MAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256521.2 2 3.309862 KEEP 0 0 0 11 349 AA 0.993072 0.119602 0 + 3 60 94 0 0 8.032384 8 60 243 22 ENST00000360351.4 0.272727 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 211137400 211137400 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:211137400T>C NA NA Y_RNA (6602 upstream) : MYL1 (17473 downstream) NA NA NA ggattacaggtgtgagccacc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.211137400T>C NA hg19 0.02 -0.210478 AGGxGTG COVERED NOVEL 0 5 2.406992 KEEP 1 0 0 8 244 TT 0.99257 0.518282 0 4 60 117 0 0 8.995913 19 60 559 43 0.173913 0.522161 ERBB4 2066 __UNKNOWN__ __UNKNOWN__ 2 212245831 212245831 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:212245831T>C ENST00000342788.4 - 0 6746 ERBB4_ENST00000436443.1_3'UTR NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 NA NA cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) Afatinib(DB08916) CCTGAGCTATTAGATTGTGGC 0.413 NA TSP Lung(8;0.080) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L07868 CCDS2394.1, CCDS42811.1 2q33.3-q34 2013-10-11 2013-07-09 ENSG00000178568 ENSG00000178568 2066 3432 protein-coding gene gene with protein product 600543 v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4 NA 7700649, 17018285 Standard NM_001042599 NM_001042599 NA Approved ALS19 uc002veg.1 Q15303 OTTHUMG00000133012 ENST00000342788.4:c.*2509A>G chr2.hg19:g.212245831T>C NA B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4 hg19 CCDS2394.1 0.02 -0.429652 TATxAGA COVERED NOVEL ERBB4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256597.1 0 5.416032 KEEP 0 0 0 18 550 TT 0.999859 0.954357 0 - 4 60 140 1 0 9.894418 45 60 1241 104 ENST00000342788.4 0.081633 0.954491 SPAG16 79582 __UNKNOWN__ __UNKNOWN__ 2 214233675 214233675 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:214233675A>G ENST00000331683.5 + 8 927 SPAG16_ENST00000272898.7_Intron|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000447990.1_Intron NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 NA NA cilium assembly (GO:0042384)|spermatogenesis (GO:0007283) axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) atgctcatggataggaagaat 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF310672 CCDS2396.1, CCDS46508.1 2q34 2013-05-21 ENSG00000144451 ENSG00000144451 79582 WD repeat domain containing 23225 protein-coding gene gene with protein product 612173 NA 12391165, 11867345 Standard NM_024532 NM_024532 NA Approved PF20, FLJ22724, DKFZp666P1710, WDR29 uc002veq.4 Q8N0X2 OTTHUMG00000133015 ENST00000331683.5:c.832+4806A>G chr2.hg19:g.214233675A>G NA Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601 hg19 CCDS2396.1 0.02 -0.429744 TGGxTAG COVERED NOVEL SPAG16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256601.2 2 4.549292 KEEP 3 1 34 27 887 AA 0.999997 0.954488 0 + 4 60 134 0 0 9.574566 38 60 1131 109 ENST00000331683.5 0.095238 0.954491 ABCA12 26154 __UNKNOWN__ __UNKNOWN__ 2 215802211 215802211 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:215802211T>C ENST00000272895.7 - 51 7762 ABCA12_ENST00000389661.4_Intron|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 NA NA cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129) cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886) apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) cgtgagccactgcacccagcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(66;664 1488 5121 34295) NA 0 93 85 87 NA NA NA 2 NA NA 215802211 2203 4300 6503 SO:0001627 intron_variant AF418105 CCDS33372.1, CCDS33373.1 2q34 2012-03-14 ENSG00000144452 ENSG00000144452 26154 ATP binding cassette transporters / subfamily A 14637 protein-coding gene gene with protein product 607800 ichthyosis congenita II, lamellar ichthyosis B ICR2B NA 11435397, 12915478, 8845852, 10094194 Standard NM_173076 NM_015657 NA Approved DKFZP434G232, LI2 uc002vew.3 Q86UK0 OTTHUMG00000154801 ENST00000272895.7:c.7542+22A>G chr2.hg19:g.215802211T>C NA Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5 hg19 CCDS33372.1 0.02 1.479154 CACxGCA COVERED NOVEL ABCA12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337111.1 11 6.620484 KEEP 0 0 0 22 703 TT 0.999879 0.999286 0 - 5 60 168 0 0 11.182406 71 60 2132 149 ENST00000272895.7 0.065789 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 216808297 216808297 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:216808297A>G NA NA AC093382.1 (1855 upstream) : MREG (915 downstream) NA NA NA gggcgcggtgactcacgcctg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.216808297A>G NA hg19 0.02 1.806741 GTGxCTC COVERED NOVEL 0 4 2.740637 KEEP 0 1 34 21 608 AA 0.999879 0.976747 0 5 60 170 0 0 12.240184 47 60 1322 92 0.096154 0.976865 XRCC5 7520 __UNKNOWN__ __UNKNOWN__ 2 217021288 217021288 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:217021288T>A ENST00000392133.3 + 17 2131 XRCC5_ENST00000392132.2_Intron P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) NA NA brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) TGAGGTTAGCTTTCCCATGGT 0.453 NA Non-homologous end-joining NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039597 CCDS2402.1 2q35 2008-07-31 2008-07-31 ENSG00000079246 ENSG00000079246 7520 12833 protein-coding gene gene with protein product Ku autoantigen, 80kDa 194364 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD) NA 9636207, 9214634 Standard NM_021141 NM_021141 NA Approved KU80, KARP-1, Ku86, KUB2 uc002vfy.3 P13010 OTTHUMG00000133059 ENST00000392133.3:c.1671-3503T>A chr2.hg19:g.217021288T>A NA A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1 hg19 CCDS2402.1 0.02 1.379887 AGCxTTC COVERED NOVEL XRCC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256675.3 0 8.725417 KEEP 0 0 0 29 911 TT 0.999997 0.999314 0 + 9 60 258 0 0 17.837446 72 60 2162 167 ENST00000392133.3 0.111111 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 218831768 218831768 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:218831768T>C NA NA TNS1 (22917 upstream) : AC010136.2 (11661 downstream) NA NA NA ATAggccgggtgcggtggctc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.218831768T>C NA hg19 0.02 -0.263049 GGGxGCG COVERED NOVEL 0 10 2.407163 KEEP 4 0 0 8 246 TT 0.99257 0.688515 0 4 60 134 0 0 10.258031 25 60 696 55 0.137931 0.693668 CXCR2 3579 __UNKNOWN__ __UNKNOWN__ 2 219001133 219001133 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:219001133A>G ENST00000318507.2 + 0 2036 NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 NA NA cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886) C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 ctccagcctgagcgacagtga 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U11869 CCDS2408.1 2q35 2012-08-08 2009-11-25 2009-11-25 ENSG00000180871 ENSG00000180871 3579 CD molecules, GPCR / Class A : Chemokine receptors : C-X-C motif, Interleukins and interleukin receptors 6027 protein-coding gene gene with protein product 146928 interleukin 8 receptor, beta IL8RB NA 1427896 Standard NM_001557 NM_001557 NA Approved CMKAR2, CD182 uc002vha.2 P25025 OTTHUMG00000133107 ENST00000318507.2:c.*526A>G chr2.hg19:g.219001133A>G NA Q8IUZ1|Q9P2T6|Q9P2T7 hg19 CCDS2408.1 0.02 1.836098 CTGxGCG COVERED NOVEL CXCR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256772.2 6 6.319617 KEEP 0 0 0 21 682 AA 0.999869 0.991964 0 + 4 60 138 1 0 9.329447 56 60 1684 128 ENST00000318507.2 0.066667 0.992094 USP37 57695 __UNKNOWN__ __UNKNOWN__ 2 219324692 219324692 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:219324692A>G ENST00000415516.1 - 21 2674 USP37_ENST00000454775.1_Intron|USP37_ENST00000418019.1_Intron|USP37_ENST00000258399.3_Intron Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 NA NA G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843) NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) ggtggctcacacctgtaatcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046814 CCDS2418.1 2q35 2008-02-05 2005-08-08 ENSG00000135913 ENSG00000135913 57695 Ubiquitin-specific peptidases 20063 protein-coding gene gene with protein product ubiquitin specific protease 37 NA 12838346 Standard NM_020935 NM_020935 NA Approved KIAA1594 uc010fvs.1 Q86T82 OTTHUMG00000133113 ENST00000415516.1:c.2246-64T>C chr2.hg19:g.219324692A>G NA A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8 hg19 0.02 1.707421 CACxCCT COVERED NOVEL USP37-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000338136.2 8 2.268077 KEEP 0 2 73 33 925 AA 0.999999 0.981955 0 - 4 60 135 0 0 9.323073 47 60 1244 102 ENST00000415516.1 0.078431 0.981955 RQCD1 9125 __UNKNOWN__ __UNKNOWN__ 2 219452073 219452073 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:219452073C>T ENST00000295701.5 + 5 510 RQCD1_ENST00000509807.2_Missense_Mutation_p.P159L|RQCD1_ENST00000273064.6_Intron|RQCD1_ENST00000542068.1_Intron NM_001271635.1 NP_001258564.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) NA NA cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351) CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) cttgaactcccgacctcaagt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87957 CCDS33379.1, CCDS63123.1 2q35 2010-04-23 2001-11-28 ENSG00000144580 ENSG00000144580 9125 10445 protein-coding gene gene with protein product cancer/testis antigen 129 612054 rcd1 (required for cell differentiation, S.pombe) homolog 1 NA 9447985 Standard NM_005444 NM_001271634 NA Approved RCD1, RCD1+, CNOT9, CT129 uc010zki.3 Q92600 OTTHUMG00000154750 ENST00000295701.5:c.431-236C>T chr2.hg19:g.219452073C>T NA B2RPI0|B5MDQ4|B7Z1E5|Q96IX4 hg19 0.02 1.065477 TCCxGAC COVERED . . . . . . . . . . T 0.134 -1.110306 0.01813 . . ENSG00000144580 ENST00000509807 T 0.00457 7.29 0.158 0.158 0.14942 . . . . . T 0.00144 0.0004 . . . 0.09310 N 1 . . . . . . T 0.39881 -0.9592 5 0.02654 T 1 . . . . . 159 B7Z1E5 . L 159 ENSP00000441357:P159L ENSP00000441357:P159L P + 2 0 RQCD1 219160317 0.001000 0.12720 0.007000 0.13788 0.007000 0.05969 -0.724000 0.04947 -1.119000 0.02958 -1.140000 0.01884 CCG NOVEL RQCD1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336921.1 8 7.725294 KEEP 1 3 80 54 1828 CC 1 0.999487 0 + 6 60 167 0 0 10.324426 74 60 2414 156 ENST00000295701.5 0.075 0.999487 TTLL4 9654 __UNKNOWN__ __UNKNOWN__ 2 219616691 219616691 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:219616691T>C ENST00000392102.1 + 16 3316 TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Intron|TTLL4_ENST00000442769.1_Intron NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 NA NA protein polyglutamylation (GO:0018095) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) ligase activity (GO:0016874)|tubulin binding (GO:0015631) endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) agtgcaatggtgcgatctcag 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(172;1818 2053 15407 20943 49753) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2422.1 2p24.3-p24.1 2013-02-14 ENSG00000135912 ENSG00000135912 9654 Tubulin tyrosine ligase-like family 28976 protein-coding gene gene with protein product NA 11054573 Standard NM_014640 NM_014640 NA Approved KIAA0173 uc002viy.3 Q14679 OTTHUMG00000133081 ENST00000392102.1:c.2976+162T>C chr2.hg19:g.219616691T>C NA A8K6V5|Q8WW29 hg19 CCDS2422.1 0.02 -0.271863 TGGxGCG COVERED NOVEL TTLL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256726.1 8 3.009201 KEEP 5 0 0 10 317 TT 0.99257 0.711986 0 + 3 60 98 0 0 7.306137 21 60 611 61 ENST00000392102.1 0.125 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 219906425 219906425 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:219906425C>T NA NA CCDC108 (180 upstream) : IHH (12716 downstream) NA NA NA AATGTAGAGCCTCCTAGTTGT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.219906425C>T NA hg19 0.02 -0.149122 AGCxTCC COVERED NOVEL 0 0 3.611165 KEEP 0 0 0 12 418 CC 0.993634 0.290142 0 6 60 177 0 0 15.964751 10 60 344 31 0.375 0.292001 CNPPD1 27013 __UNKNOWN__ __UNKNOWN__ 2 220040202 220040202 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:220040202A>G ENST00000409789.1 - 4 688 CNPPD1_ENST00000360507.5_Intron Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 NA NA regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079) integral component of membrane (GO:0016021) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 ctgggtgacaaagtgagactg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF070638 CCDS2433.1 2q36 2011-03-23 2011-03-23 2011-03-23 ENSG00000115649 ENSG00000115649 27013 25220 protein-coding gene gene with protein product chromosome 2 open reading frame 24 C2orf24 NA 8619474, 9110174 Standard NM_015680 NM_015680 NA Approved CGI-57 uc002vju.4 Q9BV87 OTTHUMG00000133132 ENST00000409789.1:c.260+110T>C chr2.hg19:g.220040202A>G NA B2RC77|O75548|Q9H4N0|Q9UQN0 hg19 CCDS2433.1 0.02 3.839255 ACAxAGT COVERED NOVEL CNPPD1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336220.1 8 8.762516 KEEP 1 1 37 42 1362 AA 1 0.999992 0 - 6 60 199 1 1 13.052353 89 70 2574 211 ENST00000409789.1 0.063158 0.999992 ABCB6 10058 __UNKNOWN__ __UNKNOWN__ 2 220082352 220082352 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:220082352A>G ENST00000265316.3 - 2 1004 ABCB6_ENST00000439002.2_Intron NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) NA NA brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) gtgacagagcaagactccgtc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 33 37 36 NA NA NA 2 NA NA 220082352 2203 4300 6503 SO:0001627 intron_variant AF070598 CCDS2436.1 2q36 2014-08-27 2014-08-27 ENSG00000115657 ENSG00000115657 10058 ATP binding cassette transporters / subfamily B 47 protein-coding gene gene with protein product ATP-binding cassette half-transporter 605452 ATP-binding cassette, sub-family B (MDR/TAP), member 6 NA 8894702, 9110174 Standard NM_005689 NM_005689 NA Approved EST45597, umat, MTABC3 uc002vkc.2 Q9NP58 OTTHUMG00000133131 ENST00000265316.3:c.687+39T>C chr2.hg19:g.220082352A>G NA O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7 hg19 CCDS2436.1 0.02 1.470492 AGCxAGA COVERED NOVEL ABCB6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256820.2 4 7.821599 KEEP 2 0 0 26 807 AA 0.999931 0.999338 0 - 4 60 129 0 0 8.081086 69 60 1992 147 ENST00000265316.3 0.054795 0.999407 GLB1L 79411 __UNKNOWN__ __UNKNOWN__ 2 220101711 220101711 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:220101711G>C ENST00000295759.7 - 0 2361 GLB1L_ENST00000392089.2_3'UTR|GLB1L_ENST00000409640.1_3'UTR|GLB1L_ENST00000356283.3_3'UTR|GLB1L_ENST00000497855.1_5'UTR Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like NA NA carbohydrate metabolic process (GO:0005975) extracellular region (GO:0005576) beta-galactosidase activity (GO:0004565) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) tggtcttgaagtcctgacctc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2437.1, CCDS74657.1 2q36.1 2008-02-05 ENSG00000163521 ENSG00000163521 79411 28129 protein-coding gene gene with protein product NA 12975309 Standard NM_024506 XM_005246850 NA Approved MGC10771 uc002vkm.3 Q6UWU2 OTTHUMG00000133133 ENST00000295759.7:c.*83C>G chr2.hg19:g.220101711G>C NA Q96DR0 hg19 CCDS2437.1 0.02 3.58383 GAAxTCC COVERED NOVEL GLB1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256822.2 10 4.623382 KEEP 0 3 105 52 1876 GG 1 0.999981 0 - 6 60 178 0 0 10.885426 92 60 3128 192 ENST00000295759.7 0.061224 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 221891044 221891044 __UNKNOWN__ IGR SNP A A G rs187466687 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:221891044A>G NA NA AC093843.1 (228431 upstream) : EPHA4 (391702 downstream) NA NA NA caccgcgcccagccAAAATGT 0.443 NA -||| 7 0.00139776 0.0038 0 5008 , , NA 15060 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.221891044A>G NA hg19 0.02 -0.228013 CCCxGCC UNCOVERED NOVEL 0 5 2.407263 KEEP 16 0 0 8 249 AA 0 0 0 3 60 97 0 0 7.149346 22 60 636 61 0.12 0.58293 FARSB 10056 __UNKNOWN__ __UNKNOWN__ 2 223512377 223512377 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:223512377A>G ENST00000281828.6 - 2 378 FARSB_ENST00000536361.1_Intron NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit NA NA gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) ccagctactcaggaggctgag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF042346 CCDS2454.1 2q36.2 2011-07-01 2007-02-23 2007-02-23 ENSG00000116120 ENSG00000116120 10056 6.1.1.20 Aminoacyl tRNA synthetases / Class II 17800 protein-coding gene gene with protein product phenylalanine tRNA ligase 1, beta, cytoplasmic 609690 phenylalanyl-tRNA synthetase-like, beta subunit FARSLB NA 10049785 Standard NM_005687 NM_005687 NA Approved PheHB, FRSB uc002vne.1 Q9NSD9 OTTHUMG00000133155 ENST00000281828.6:c.114+1081T>C chr2.hg19:g.223512377A>G NA B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6 hg19 CCDS2454.1 0.02 3.443584 CTCxGGA COVERED NOVEL FARSB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256855.2 30 6.655007 KEEP 0 1 34 34 1090 AA 0.999999 0.999997 0 - 5 60 167 0 0 10.362043 100 60 3079 217 ENST00000281828.6 0.047619 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 224584978 224584978 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:224584978G>A NA NA SCG2 (117757 upstream) : AP1S3 (31424 downstream) NA NA NA gcagtttagtgggggtcagaa 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.224584978G>A NA hg19 0.02 -0.438594 AGTxGGG COVERED NOVEL 0 1 3.611837 KEEP 0 0 0 12 429 GG 0.993634 0.953748 0 19 60 569 0 0 52.652942 26 60 892 92 0.422222 0.959859 FAM124B 79843 __UNKNOWN__ __UNKNOWN__ 2 225265113 225265113 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:225265113A>C ENST00000409685.3 - 1 998 FAM124B_ENST00000389874.3_3'UTR|FAM124B_ENST00000243806.2_3'UTR NM_001122779.1 NP_001116251.1 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B NA NA endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) gtcccagctaatcaggaggct 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 2 NA NA 225265113 163 125 288 SO:0001627 intron_variant AK075126 CCDS2461.1, CCDS46527.1 2q36.2 2008-02-05 ENSG00000124019 ENSG00000124019 79843 26224 protein-coding gene gene with protein product NA 12477932 Standard NM_024785 NM_001122779 NA Approved FLJ22746 uc002vnx.3 Q9H5Z6 OTTHUMG00000133168 ENST00000409685.3:c.732+640T>G chr2.hg19:g.225265113A>C NA A6NNC7|Q8NBZ4|Q8TAV7 hg19 CCDS46527.1 0.02 1.556085 CTAxTCA COVERED NOVEL FAM124B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330873.1 13 14.76112 KEEP 0 1 37 62 1829 AA 1 0.999919 0 - 5 60 163 0 0 10.358458 83 60 2263 181 ENST00000409685.3 0.056818 0.999919 IRS1 3667 __UNKNOWN__ __UNKNOWN__ 2 227644846 227644846 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:227644846T>C ENST00000305123.5 - 1 4771 NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 NA NA cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165) caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) cggtggctcatgcctgtaatc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2463.1 2q36 2013-01-10 ENSG00000169047 ENSG00000169047 3667 Pleckstrin homology (PH) domain containing 6125 protein-coding gene gene with protein product 147545 NA 1648180 Standard NM_005544 NM_005544 NA Approved HIRS-1 uc002voh.4 P35568 OTTHUMG00000133179 ENST00000305123.5:c.3726+14858A>G chr2.hg19:g.227644846T>C NA hg19 CCDS2463.1 0.02 -0.25299 TCAxGCC COVERED NOVEL IRS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256886.3 5 2.708364 KEEP 0 0 0 9 286 TT 0.99254 0.663536 0 - 6 60 163 0 0 13.188188 19 60 560 55 ENST00000305123.5 0.24 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 228298795 228298795 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:228298795T>C NA NA TM4SF20 (54773 upstream) : MIR5703 (38052 downstream) NA NA NA ggattacaggtgtgagccacc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.228298795T>C NA hg19 0.02 -0.263048 AGGxGTG UNCOVERED NOVEL 0 13 2.407373 KEEP 4 0 0 8 251 TT 0 0 0 3 60 100 0 0 7.343108 24 60 690 59 0.111111 0.693668 AC010149.4 0 __UNKNOWN__ __UNKNOWN__ 2 231408626 231408626 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:231408626T>C ENST00000455357.1 - 0 491 AC010149.4_ENST00000414539.1_RNA NA NA NA tcaaactatattacagggctt 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000455357.1: chr2.hg19:g.231408626T>C NA hg19 0.02 5.874389 ATAxTAC COVERED NOVEL AC010149.4-002 KNOWN basic antisense NA antisense OTTHUMT00000332369.1 21 10.235254 KEEP 0 4 114 74 2241 TT 1 1 0 - 12 60 361 0 0 23.445351 145 60 4139 337 ENST00000455357.1 0.076433 1 AC010149.4 0 __UNKNOWN__ __UNKNOWN__ 2 231408631 231408631 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:231408631G>A ENST00000455357.1 - 0 491 AC010149.4_ENST00000414539.1_RNA NA NA NA ctatattacagggcttcagta 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000455357.1: chr2.hg19:g.231408631G>A NA hg19 0.02 4.234229 ACAxGGC COVERED NOVEL AC010149.4-002 KNOWN basic antisense NA antisense OTTHUMT00000332369.1 29 12.375043 KEEP 0 4 119 83 2971 GG 1 1 0 - 17 60 476 0 0 31.60346 156 60 5359 368 ENST00000455357.1 0.098266 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 232424492 232424492 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:232424492C>T NA NA NMUR1 (29286 upstream) : C2orf57 (33082 downstream) NA NA NA tcacctgaggccaggagtttg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.232424492C>T NA hg19 0.02 -0.289453 AGGxCAG COVERED NOVEL 0 3 2.407843 KEEP 0 0 0 8 281 CC 0.99257 0.755234 0 4 60 106 0 0 7.397893 26 60 852 54 0.133333 0.760887 DIS3L2 129563 __UNKNOWN__ __UNKNOWN__ 2 232996271 232996271 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:232996271T>C ENST00000409307.1 + 6 702 DIS3L2_ENST00000409401.3_3'UTR|DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Intron|DIS3L2_ENST00000360410.4_Intron DIS3 like 3'-5' exoribonuclease 2 NA NA breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) ggattacaggtgtgagccaac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC026166 CCDS42834.1, CCDS58752.1, CCDS58753.1 2q37.1 2014-09-17 2014-03-05 ENSG00000144535 ENSG00000144535 129563 28648 protein-coding gene gene with protein product 614184 family with sequence similarity 6, member A, DIS3 mitotic control homolog (S. cerevisiae)-like 2 FAM6A NA 22306653, 23503588 Standard NM_152383 NM_152383 NA Approved FLJ36974, MGC42174 uc010fxz.3 Q8IYB7 OTTHUMG00000153385 ENST00000409307.1:c.702+842T>C chr2.hg19:g.232996271T>C NA hg19 CCDS42834.1 0.02 1.687357 AGGxGTG COVERED NOVEL DIS3L2-015 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330988.1 7 2.771208 KEEP 0 2 68 33 945 TT 0.999999 0.999217 0 + 6 60 182 0 0 11.925696 71 60 1997 146 ENST00000409307.1 0.077922 0.999218 CHRND 1144 __UNKNOWN__ __UNKNOWN__ 2 233391987 233391987 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:233391987T>G ENST00000258385.3 + 3 230 CHRND_ENST00000543200.1_Intron|CHRND_ENST00000536614.1_Intron|CHRND_ENST00000457943.2_Intron NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) NA NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) Galantamine(DB00674) ctgcactccatcctgggcaat 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X55019 CCDS2494.1, CCDS58754.1 2q37.1 2012-02-11 2012-02-07 ENSG00000135902 ENSG00000135902 1144 Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic 1965 protein-coding gene gene with protein product acetylcholine receptor, nicotinic, delta (muscle) 100720 cholinergic receptor, nicotinic, delta ACHRD NA Standard NM_000751 NA Approved uc002vsw.4 Q07001 OTTHUMG00000133261 ENST00000258385.3:c.199-124T>G chr2.hg19:g.233391987T>G NA A8K661|B4DT92|Q52LH4 hg19 CCDS2494.1 0.02 1.862466 CCAxCCT COVERED NOVEL CHRND-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257038.2 11 4.511779 KEEP 0 0 0 15 449 TT 0.99649 0.984476 0 + 7 60 236 0 0 17.959959 46 60 1293 98 ENST00000258385.3 0.132075 0.987943 INPP5D 3635 __UNKNOWN__ __UNKNOWN__ 2 234095425 234095425 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:234095425G>A ENST00000359570.5 + 23 2322 INPP5D_ENST00000450745.1_Intron|INPP5D_ENST00000455936.2_Intron Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa NA NA apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852) cytosol (GO:0005829)|membrane (GO:0016020) inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594) central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) ctggagtgcagtggcatgatc 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(82;1215 1426 16163 20348 41018) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U57650 CCDS74672.1 2q37.1 2013-02-14 2002-08-29 ENSG00000168918 ENSG00000168918 3635 SH2 domain containing 6079 protein-coding gene gene with protein product 601582 inositol polyphosphate-5-phosphatase, 145kD NA 8643691, 8874179 Standard NM_001017915 NM_001017915 NA Approved SHIP, hp51CN uc010zmp.2 Q92835 OTTHUMG00000133688 ENST00000359570.5:c.2322+854G>A chr2.hg19:g.234095425G>A NA O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80 hg19 0.02 1.349357 GCAxTGG COVERED NOVEL INPP5D-201 KNOWN basic|appris_principal protein_coding NA protein_coding 111 2.441817 KEEP 74 1 28 18 622 GG 0.99254 0.984693 0 + 5 21 129 1 0 7.99347 51 60 1629 151 ENST00000359570.5 0.089286 0.992094 DGKD 8527 __UNKNOWN__ __UNKNOWN__ 2 234286797 234286797 __UNKNOWN__ Intron SNP C C T rs565247527 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:234286797C>T ENST00000264057.2 + 2 168 AC019221.4_ENST00000442524.1_RNA NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa NA NA blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) tggtggctcacgcctgtaatc 0.537 NA C||| 1 0.000199681 0 0.0014 5008 , , NA 9923 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D63479 CCDS2504.1, CCDS46546.1 2q37 2013-01-10 2002-08-29 ENSG00000077044 ENSG00000077044 8527 Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing 2851 protein-coding gene gene with protein product diglyceride kinase 601826 diacylglycerol kinase, delta (130kD) NA 8626538, 12810723 Standard NM_003648 NM_003648 NA Approved KIAA0145, DGKdelta uc002vui.1 Q16760 OTTHUMG00000133290 ENST00000264057.2:c.157-10106C>T chr2.hg19:g.234286797C>T NA Q14158|Q6PK55|Q8NG53 hg19 CCDS2504.1 0.02 -0.280679 TCAxGCC COVERED NOVEL DGKD-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257072.2 8 3.008409 KEEP 5 0 0 10 321 CC 0.99254 0.734154 0 + 3 60 93 0 0 6.749589 22 60 702 69 ENST00000264057.2 0.12 0.739671 USP40 55230 __UNKNOWN__ __UNKNOWN__ 2 234403251 234403251 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:234403251G>C ENST00000427112.2 - 24 2823 USP40_ENST00000450966.1_Intron|USP40_ENST00000251722.6_Intron|USP40_ENST00000409945.1_Intron Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 NA NA ubiquitin-dependent protein catabolic process (GO:0006511) cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459) breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) gtggctcacagctgtaatccc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001647 CCDS46547.1 2q37.1 2005-08-08 2005-08-08 ENSG00000085982 ENSG00000085982 55230 Ubiquitin-specific peptidases 20069 protein-coding gene gene with protein product 610570 ubiquitin specific protease 40 NA 12838346 Standard XM_114294 NM_018218 NA Approved FLJ10785 uc010zmr.2 Q9NVE5 OTTHUMG00000153199 ENST00000427112.2:c.2788-1054C>G chr2.hg19:g.234403251G>C NA Q6NX38|Q70EL0 hg19 CCDS46547.1 0.02 -0.219321 ACAxCTG COVERED NOVEL USP40-017 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000397235.1 8 2.708379 KEEP 0 0 0 9 316 GG 0.99254 0.548763 0 - 3 60 97 0 0 7.460646 17 60 589 47 ENST00000427112.2 0.15 0.552887 UGT1A4 54657 __UNKNOWN__ __UNKNOWN__ 2 234628241 234628241 __UNKNOWN__ Missense_Mutation SNP G G C rs200363835 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:234628241G>C ENST00000373409.3 + 1 818 c.775G>C c.(775-777)Ggg>Cgg p.G259R UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron NM_007120.2 NP_009051.1 P22310 UD14_HUMAN UDP glucuronosyltransferase 1 family, polypeptide A4 259 NA cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313) GCTGTTCCGAGGGGACTTTGT 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(99;1011 1962 13201 26492) NA 0 201 201 201 NA NA NA 2 NA NA 234628241 2203 4300 6503 SO:0001583 missense M84128 CCDS33405.1 2q37.1 2014-01-10 2005-07-20 ENSG00000244474 ENSG00000244474 54657 UDP glucuronosyltransferases 12536 other complex locus constituent 606429 UDP glycosyltransferase 1 family, polypeptide A4 NA 9295054, 1339448 Standard NM_007120 NM_007120 NA Approved HUG-BR2, UGT1D uc002vux.3 P22310 OTTHUMG00000059119 ENST00000373409.3:c.775G>C chr2.hg19:g.234628241G>C ENSP00000362508:p.Gly259Arg NA B2R937|B8K288|Q5DT00 hg19 CCDS33405.1 0.02 1.944367 CGAxGGG COVERED 7 0.003205128205128205 0 0.0 1 0.0027624309392265192 4 0.006993006993006993 2 0.002638522427440633 g 0.015 -1.547026 0.00926 . . ENSG00000244474 ENST00000373409 T 0.61510 0.1 4.49 -5.65 0.02459 . . . . . T 0.34395 0.0896 L 0.51914 1.62 0.09310 N 1 B;B 0.06786 0.0;0.001 B;B 0.17433 0.006;0.018 T 0.39461 -0.9613 9 0.49607 T 0.09 . 3.3767 0.07239 0.1848:0.0788:0.2436:0.4928 . 259;259 B8K288;P22310 .;UD14_HUMAN R 259 ENSP00000362508:G259R ENSP00000362508:G259R G + 1 0 UGT1A4 234292980 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -1.669000 0.01958 -0.911000 0.03843 -4.554000 0.00004 GGG NOVEL UGT1A4-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000130984.1 1 13.17822 KEEP 3 1 35 56 1956 GG 1 0.990964 0 + 4 48 133 0 0 8.771212 58 60 1951 158 ENST00000373409.3 0.064516 0.990964 UGT1A4 54657 __UNKNOWN__ __UNKNOWN__ 2 234628249 234628249 __UNKNOWN__ Silent SNP T T C rs138347224 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:234628249T>C ENST00000373409.3 + 1 826 c.783T>C c.(781-783)ttT>ttC p.F261F UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron NM_007120.2 NP_009051.1 P22310 UD14_HUMAN UDP glucuronosyltransferase 1 family, polypeptide A4 261 NA cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313) GAGGGGACTTTGTGATGGACT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(99;1011 1962 13201 26492) NA 0 196 196 196 NA NA NA 2 NA NA 234628249 2203 4300 6503 SO:0001819 synonymous_variant M84128 CCDS33405.1 2q37.1 2014-01-10 2005-07-20 ENSG00000244474 ENSG00000244474 54657 UDP glucuronosyltransferases 12536 other complex locus constituent 606429 UDP glycosyltransferase 1 family, polypeptide A4 NA 9295054, 1339448 Standard NM_007120 NM_007120 NA Approved HUG-BR2, UGT1D uc002vux.3 P22310 OTTHUMG00000059119 ENST00000373409.3:c.783T>C chr2.hg19:g.234628249T>C NA B2R937|B8K288|Q5DT00 hg19 CCDS33405.1 0.02 1.663321 CTTxGTG COVERED NOVEL UGT1A4-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000130984.1 2 8.577656 KEEP 2 2 70 53 1596 TT 1 0.989542 0 + 6 49 195 0 0 13.895939 54 60 1629 151 ENST00000373409.3 0.1 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 235079380 235079380 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:235079380T>C NA NA AC006037.2 (61255 upstream) : RP11-309M7.1 (52577 downstream) NA NA NA ccaccgtgcctggctaatttt 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.235079380T>C NA hg19 0.02 -0.184199 GCCxGGC COVERED NOVEL 0 17 2.708337 KEEP 5 0 0 9 284 TT 0.99257 0.420331 0 7 60 222 0 0 20.537611 10 60 307 44 0.411765 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 236211426 236211426 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:236211426G>A NA NA AC114814.3 (123877 upstream) : AC092576.1 (23575 downstream) NA NA NA ccagctactcgggaggctgag 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.236211426G>A NA hg19 0.02 -0.28067 CTCxGGA COVERED NOVEL 0 32 3.912729 KEEP 6 0 0 13 461 GG 0.994391 0.735522 0 4 48 120 1 0 9.136884 21 60 683 70 0.16 0.739671 LRRFIP1 9208 __UNKNOWN__ __UNKNOWN__ 2 238596046 238596046 __UNKNOWN__ Intron SNP G G A rs182678428 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:238596046G>A ENST00000308482.9 + 2 165 NM_001137550.1 NP_001131022.1 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 NA NA innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803) NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) tcaggagttcgagaccagcct 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ223075 CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1 2q37.3 2010-09-30 ENSG00000124831 ENSG00000124831 9208 6702 protein-coding gene gene with protein product GC-binding factor 2 603256 NA 9705290, 9525888, 16199883 Standard NM_004735 NM_004735 NA Approved FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1 uc002vxe.3 Q32MZ4 OTTHUMG00000133339 ENST00000308482.9:c.97-21141G>A chr2.hg19:g.238596046G>A NA E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607 hg19 CCDS46551.1 0.02 -0.131553 TTCxAGA COVERED NOVEL LRRFIP1-002 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257169.3 1 2.361942 KEEP 0 0 0 8 259 GG 0.99257 0.22747 0 + 3 60 83 0 0 6.472781 12 60 369 31 ENST00000308482.9 0.2 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 239126332 239126332 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:239126332A>G NA NA ILKAP (13962 upstream) : AC016757.3 (7421 downstream) NA NA NA tgtaatcccaacactttggga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.239126332A>G NA hg19 0.02 -0.262979 CCAxCAC COVERED NOVEL 0 8 2.708217 KEEP 0 0 0 9 291 AA 0.99254 0.688494 0 3 60 92 0 0 6.495367 25 60 740 60 0.107143 0.693668 C2orf54 79919 __UNKNOWN__ __UNKNOWN__ 2 241829431 241829431 __UNKNOWN__ Silent SNP G G T rs573078865 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:241829431G>T ENST00000388934.4 - 3 1043 c.885C>A c.(883-885)ggC>ggA p.G295G C2orf54_ENST00000402775.2_Silent_p.G127G|C2orf54_ENST00000307486.8_Silent_p.G146G NM_001085437.1 NP_001078906 Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 295 NA haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) CCTTCAGGTGGCCAAAGGTCA 0.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 40 48 45 NA NA NA 2 NA NA 241829431 2030 4173 6203 SO:0001819 synonymous_variant AK026324, AK056601 CCDS42839.1, CCDS42840.1, CCDS63187.1 2q37.3 2011-02-23 ENSG00000172478 ENSG00000172478 79919 26216 protein-coding gene gene with protein product NA Standard NM_024861, NM_001085437 NM_001282921 NA Approved FLJ22671 uc002wae.4 Q08AI8 OTTHUMG00000151906 ENST00000388934.4:c.885C>A chr2.hg19:g.241829431G>T NA B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622 hg19 CCDS42839.1 0.02 1.427749 GTGxCCA COVERED NOVEL C2orf54-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000324353.1 0 6.921618 KEEP 0 0 0 23 786 GG 0.999892 0.999618 0 - 23 60 657 0 0 54.873584 64 60 2111 158 ENST00000388934.4 0.264368 0.999726 FARP2 9855 __UNKNOWN__ __UNKNOWN__ 2 242357518 242357518 __UNKNOWN__ Silent SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:242357518G>A ENST00000264042.3 + 8 935 c.765G>A c.(763-765)gtG>gtA p.V255V FARP2_ENST00000545004.1_Silent_p.V255V|FARP2_ENST00000373287.4_Silent_p.V255V NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 255 FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}. NA actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898) Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GTGTACTCGTGTTCCAGGTAG 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 106 101 103 NA NA NA 2 NA NA 242357518 2203 4300 6503 SO:0001819 synonymous_variant AB018336 CCDS33424.1, CCDS63197.1 2q37.3 2013-01-10 ENSG00000006607 ENSG00000006607 9855 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 16460 protein-coding gene gene with protein product NA 9872452, 12351724 Standard NM_001282984 NA Approved KIAA0793, FIR, PLEKHC3, FRG uc002wbi.2 O94887 OTTHUMG00000151574 ENST00000264042.3:c.765G>A chr2.hg19:g.242357518G>A NA B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7 hg19 CCDS33424.1 0.02 -0.306954 CGTxTTC COVERED NOVEL FARP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323153.1 1 14.145731 KEEP 0 0 0 47 1636 GG 1 0.800245 0 + 27 60 769 0 0 81.597641 8 60 271 105 ENST00000264042.3 0.771429 0.800245 STK25 10494 __UNKNOWN__ __UNKNOWN__ 2 242433287 242433287 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:242433287T>C ENST00000316586.4 - 0 3420 FARP2_ENST00000264042.3_Intron NM_001271977.1|NM_001271978.1|NM_001282308.1 NP_001258906.1|NP_001258907.1|NP_001269237.1 O00506 STK25_HUMAN serine/threonine kinase 25 NA NA establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) gctgggattataggcatgagc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(99;1100 1566 7679 28647 48345) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D63780 CCDS2549.1, CCDS63199.1, CCDS63200.1 2q37.3 2010-06-25 2010-06-25 ENSG00000115694 ENSG00000115694 10494 11404 protein-coding gene gene with protein product 602255 serine/threonine kinase 25 (Ste20, yeast homolog) NA 8887545, 9160885, 15037601 Standard NM_006374 NM_001271977 NA Approved SOK1, YSK1 uc002wbp.4 O00506 OTTHUMG00000133408 ENST00000316586.4:c.*1790A>G chr2.hg19:g.242433287T>C NA A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1 hg19 CCDS2549.1 0.02 -0.254248 TTAxAGG COVERED NOVEL STK25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257265.4 7 3.14448 KEEP 3 1 36 23 702 TT 0.999892 0.668451 0 - 3 60 103 0 0 7.642954 24 60 653 74 ENST00000316586.4 0.111111 0.668523 AC093642.5 0 __UNKNOWN__ __UNKNOWN__ 2 243037022 243037022 __UNKNOWN__ RNA SNP A A T rs147597270 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr2:243037022A>T ENST00000456398.1 + 0 169 NA NA NA TTTAACATAAATTAACTTTTT 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000456398.1: chr2.hg19:g.243037022A>T NA hg19 0.02 1.543788 TAAxTTA COVERED NOVEL AC093642.5-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000322444.2 3 11.606414 KEEP 3 2 67 62 2023 AA 1 0.963774 0 + 9 39 279 0 0 21.960962 41 60 1241 161 ENST00000456398.1 0.18 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 1002688 1002688 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:1002688C>T NA NA AC090044.2 (102914 upstream) : AC087430.1 (47130 downstream) NA NA NA ttccttccttccttctttcct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.1002688C>T NA hg19 0.02 -0.184146 CTTxCTT UNCOVERED NOVEL 0 17 2.407781 KEEP 9 0 0 8 278 CC 0 0 0 5 60 125 1 0 11.12055 8 53 256 43 0.384615 0.423478 AC026188.1 0 __UNKNOWN__ __UNKNOWN__ 3 3426066 3426066 __UNKNOWN__ lincRNA SNP C C A rs13066550 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:3426066C>A ENST00000455703.1 - 0 59 NA NA NA tcacgcctgtcatcccagcac 0.552 NA A||| 570 0.113818 0.0416 0.0476 5008 , , NA 12924 0.3353 NA 0.0507 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000455703.1: chr3.hg19:g.3426066C>A NA hg19 0.02 -0.149048 TGTxATC UNCOVERED NOVEL AC026188.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000337894.1 14 5.718924 KEEP 92 0 0 19 696 CC 0 0 0 - 12 60 319 0 0 33.140603 5 60 173 201 ENST00000455703.1 0.705882 0.292001 SRGAP3 9901 __UNKNOWN__ __UNKNOWN__ 3 9032650 9032650 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:9032650T>A ENST00000383836.3 - 21 2986 SRGAP3_ENST00000360413.3_Intron NM_014850.3 NP_055665.1 O43295 SRGP3_HUMAN SLIT-ROBO Rho GTPase activating protein 3 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TAAAGCCTCATTCAGCCAGAC 0.517 NA T RAF1 pilocytic astrocytoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 3 3p25.3 9901 SLIT-ROBO Rho GTPase activating protein 3 M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007871 CCDS2572.1, CCDS33689.1 3p25.3 2011-07-04 2004-11-12 2004-11-12 ENSG00000196220 ENSG00000196220 9901 Rho GTPase activating proteins 19744 protein-coding gene gene with protein product 606525 SLIT-ROBO Rho GTPase activating protein 2 SRGAP2 NA 12195014 Standard NM_014850 NA Approved KIAA0411, MEGAP, WRP, ARHGAP14 uc003brf.2 O43295 OTTHUMG00000090589 ENST00000383836.3:c.2559-127A>T chr3.hg19:g.9032650T>A NA Q8IX13|Q8IZV8 hg19 CCDS2572.1 0.02 -0.403207 TCAxTCA COVERED NOVEL SRGAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207137.3 1 6.3195 KEEP 0 0 0 21 689 TT 0.999869 0.93437 0 - 15 60 392 0 0 33.73346 31 60 939 72 ENST00000383836.3 0.326087 0.934492 SRGAP3 9901 __UNKNOWN__ __UNKNOWN__ 3 9032652 9032652 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:9032652C>T ENST00000383836.3 - 21 2986 SRGAP3_ENST00000360413.3_Intron NM_014850.3 NP_055665.1 O43295 SRGP3_HUMAN SLIT-ROBO Rho GTPase activating protein 3 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AAGCCTCATTCAGCCAGACCC 0.522 NA T RAF1 pilocytic astrocytoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 3 3p25.3 9901 SLIT-ROBO Rho GTPase activating protein 3 M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007871 CCDS2572.1, CCDS33689.1 3p25.3 2011-07-04 2004-11-12 2004-11-12 ENSG00000196220 ENSG00000196220 9901 Rho GTPase activating proteins 19744 protein-coding gene gene with protein product 606525 SLIT-ROBO Rho GTPase activating protein 2 SRGAP2 NA 12195014 Standard NM_014850 NA Approved KIAA0411, MEGAP, WRP, ARHGAP14 uc003brf.2 O43295 OTTHUMG00000090589 ENST00000383836.3:c.2559-129G>A chr3.hg19:g.9032652C>T NA Q8IX13|Q8IZV8 hg19 CCDS2572.1 0.02 -0.368362 ATTxAGC COVERED NOVEL SRGAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207137.3 1 6.019216 KEEP 0 0 0 20 704 CC 0.999863 0.89919 0 - 14 60 380 0 0 33.065336 28 60 944 65 ENST00000383836.3 0.333333 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 9520655 9520655 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:9520655T>C NA NA SETD5 (817 upstream) : RP11-58B17.2 (19389 downstream) NA NA NA tgcctgtaattccagcacttt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.9520655T>C NA hg19 0.02 3.42939 AATxCCA COVERED NOVEL 0 31 9.845 KEEP 0 1 35 45 1419 TT 1 1 0 7 60 240 0 0 15.681703 116 60 3435 261 0.056911 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 9671139 9671139 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:9671139T>C NA NA LHFPL4 (75653 upstream) : MTMR14 (19977 downstream) NA NA NA aatcccagcattttgggagcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.9671139T>C NA hg19 0.02 -0.228005 GCAxTTT COVERED NOVEL 0 5 2.707855 KEEP 0 0 0 9 277 TT 0.99254 0.578582 0 5 60 169 0 0 14.057167 18 60 510 52 0.217391 0.58293 CPNE9 151835 __UNKNOWN__ __UNKNOWN__ 3 9750610 9750610 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:9750610A>G ENST00000383832.3 + 7 567 CPNE9_ENST00000383831.3_Intron NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX NA NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) gagccaccgcacccggcccaa 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2574.2 3p25.3 2008-10-30 ENSG00000144550 ENSG00000144550 151835 24336 protein-coding gene gene with protein product NA 9430674 Standard NM_001033755 XM_006712990 NA Approved KIAA4217 uc003bsd.3 Q8IYJ1 OTTHUMG00000128418 ENST00000383832.3:c.377+2863A>G chr3.hg19:g.9750610A>G NA A1L430|A6NDX6|A8MSP8 hg19 CCDS2574.2 0.02 -0.280609 CGCxCCC COVERED NOVEL CPNE9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250205.4 3 2.40647 KEEP 1 0 0 8 241 AA 0.99257 0.734176 0 + 3 60 99 0 0 7.098411 27 60 766 63 ENST00000383832.3 0.1 0.739671 CPNE9 151835 __UNKNOWN__ __UNKNOWN__ 3 9760422 9760422 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:9760422T>C ENST00000383832.3 + 17 1431 CPNE9_ENST00000383831.3_Intron NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX NA NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) tggtggctcatacctgtaatc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2574.2 3p25.3 2008-10-30 ENSG00000144550 ENSG00000144550 151835 24336 protein-coding gene gene with protein product NA 9430674 Standard NM_001033755 XM_006712990 NA Approved KIAA4217 uc003bsd.3 Q8IYJ1 OTTHUMG00000128418 ENST00000383832.3:c.1241+136T>C chr3.hg19:g.9760422T>C NA A1L430|A6NDX6|A8MSP8 hg19 CCDS2574.2 0.02 -0.245467 TCAxACC COVERED NOVEL CPNE9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250205.4 8 2.40735 KEEP 0 0 0 8 250 TT 0.99257 0.636582 0 + 3 60 103 0 0 7.749566 22 60 602 45 ENST00000383832.3 0.12 0.641347 TADA3 10474 __UNKNOWN__ __UNKNOWN__ 3 9825089 9825089 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:9825089C>T ENST00000301964.2 - 8 1665 TADA3_ENST00000343450.2_3'UTR|TADA3_ENST00000440161.1_Intron NM_006354.2 NP_006345.1 O75528 TADA3_HUMAN transcriptional adaptor 3 NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276) ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 ctgcaacctccgcctcccagg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF069733 CCDS2583.1, CCDS2584.1 3p25.3 2010-08-13 2009-10-02 2009-10-02 ENSG00000171148 ENSG00000171148 10474 19422 protein-coding gene gene with protein product 602945 transcriptional adaptor 3 (NGG1 homolog, yeast)-like TADA3L NA 9674425, 11707411 Standard NM_006354 NA Approved FLJ20221, FLJ21329, ADA3, hADA3, NGG1 uc010hcn.2 O75528 OTTHUMG00000128440 ENST00000301964.2:c.1106+622G>A chr3.hg19:g.9825089C>T NA Q6FI83|Q9UFS2 hg19 CCDS2583.1 0.02 2.720873 CTCxGCC COVERED NOVEL TADA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250236.1 16 14.14446 KEEP 1 0 0 47 1564 CC 1 0.999993 0 - 6 60 166 0 0 9.713304 91 60 2911 194 ENST00000301964.2 0.061856 0.999993 TADA3 10474 __UNKNOWN__ __UNKNOWN__ 3 9825105 9825105 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:9825105C>G ENST00000301964.2 - 8 1665 TADA3_ENST00000343450.2_3'UTR|TADA3_ENST00000440161.1_Intron NM_006354.2 NP_006345.1 O75528 TADA3_HUMAN transcriptional adaptor 3 NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276) ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 ccaggttcaactgattctcct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF069733 CCDS2583.1, CCDS2584.1 3p25.3 2010-08-13 2009-10-02 2009-10-02 ENSG00000171148 ENSG00000171148 10474 19422 protein-coding gene gene with protein product 602945 transcriptional adaptor 3 (NGG1 homolog, yeast)-like TADA3L NA 9674425, 11707411 Standard NM_006354 NA Approved FLJ20221, FLJ21329, ADA3, hADA3, NGG1 uc010hcn.2 O75528 OTTHUMG00000128440 ENST00000301964.2:c.1106+606G>C chr3.hg19:g.9825105C>G NA Q6FI83|Q9UFS2 hg19 CCDS2583.1 0.02 3.862415 CAAxTGA COVERED NOVEL TADA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250236.1 23 12.978479 KEEP 1 1 37 56 2013 CC 1 1 0 - 6 60 210 1 0 13.659088 108 60 3680 250 ENST00000301964.2 0.052632 1 TTLL3 26140 __UNKNOWN__ __UNKNOWN__ 3 9860334 9860334 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:9860334C>G ENST00000426895.4 + 6 878 TTLL3_ENST00000547186.1_Intron|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000383827.1_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Intron Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 NA NA axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094) axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630) protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) ttacaggcgtcagccaccgtg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43048.1, CCDS43048.2 3p25.3 2013-02-14 ENSG00000214021 ENSG00000214021 26140 Tubulin tyrosine ligase-like family 24483 protein-coding gene gene with protein product NA 11054573 Standard NM_001025930.2 NR_037162 NA Approved DKFZP434B103, HOTTL uc003btg.4 Q9Y4R7 OTTHUMG00000128439 ENST00000426895.4:c.860-172C>G chr3.hg19:g.9860334C>G NA Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99 hg19 CCDS43048.2 0.02 9.355624 CGTxAGC COVERED NOVEL TTLL3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258268.5 47 26.556264 KEEP 0 2 74 114 4028 CC 1 1 0 + 12 60 377 0 1 22.122978 263 60 8861 596 ENST00000426895.4 0.043636 1 EMC3 55831 __UNKNOWN__ __UNKNOWN__ 3 10023331 10023331 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:10023331T>C ENST00000245046.2 - 2 614 EMC3_ENST00000429759.1_Missense_Mutation_p.T86A NM_018447.2 NP_060917.1 Q9P0I2 EMC3_HUMAN ER membrane protein complex subunit 3 NA NA ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021) NA gctgccaaggttggtctcaaa 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF157321 CCDS2594.1 3p25.3 2012-05-23 2012-05-23 2012-05-23 ENSG00000125037 ENSG00000125037 55831 23999 protein-coding gene gene with protein product transmembrane protein 111 TMEM111 NA 19797678, 22119785 Standard NM_018447 NM_018447 NA Approved uc003bun.3 Q9P0I2 OTTHUMG00000128652 ENST00000245046.2:c.156-4201A>G chr3.hg19:g.10023331T>C NA B2R4Z9|Q53GH8|Q6ZMC2 hg19 CCDS2594.1 0.02 -0.298071 AGGxTGG COVERED . . . . . . . . . . T 0.004 -2.342273 0.00222 . . ENSG00000125037 ENST00000429759 . . . 0.75 -0.729 0.11158 . . . . . T 0.12050 0.0293 . . . 0.09310 N 1 . . . . . . T 0.31861 -0.9928 4 0.05833 T 0.94 . . . . . . . . A 86 . ENSP00000408803:T86A T - 1 0 TMEM111 9998331 0.000000 0.05858 0.001000 0.08648 0.194000 0.23727 -0.479000 0.06567 -0.278000 0.09180 0.172000 0.16884 ACC NOVEL EMC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250532.1 6 4.512405 KEEP 0 0 0 15 432 TT 0.99649 0.778319 0 - 3 60 95 0 0 6.612216 29 60 782 55 ENST00000245046.2 0.09375 0.78106 FANCD2 2177 __UNKNOWN__ __UNKNOWN__ 3 10081981 10081981 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:10081981G>A ENST00000419585.1 + 9 856 FANCD2_ENST00000438741.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000431693.1_3'UTR|FANCD2_ENST00000287647.3_Intron|FANCD2_ENST00000383807.1_Intron Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 NA NA DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129) condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA polymerase binding (GO:0070182) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) cggcctcccagagtgctggga 0.483 NA D, Mis, N, F AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia D2 3 3p26 2177 Fanconi anemia, complementation group D2 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) AF340183 CCDS2595.1, CCDS33696.1 3p25.3 2014-09-17 2001-10-05 ENSG00000144554 ENSG00000144554 2177 Fanconi anemia, complementation groups 3585 protein-coding gene gene with protein product 613984 FACD, FANCD NA 7581463, 11239453, 18475298 Standard XM_005264946 NA Approved FAD, FA-D2 uc003buw.3 Q9BXW9 OTTHUMG00000128670 ENST00000419585.1:c.695+452G>A chr3.hg19:g.10081981G>A NA Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9 hg19 CCDS33696.1 0.02 3.151505 CCAxAGT COVERED NOVEL FANCD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339873.1 17 8.033037 KEEP 1 3 101 62 2235 GG 1 0.999987 0 + 7 60 195 0 0 12.070965 86 60 2981 240 ENST00000419585.1 0.075269 0.999987 FANCD2 2177 __UNKNOWN__ __UNKNOWN__ 3 10091035 10091035 __UNKNOWN__ Intron SNP T T C rs10222446 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:10091035T>C ENST00000419585.1 + 17 1574 FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000287647.3_Intron|FANCD2_ENST00000383807.1_Intron Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 NA NA DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129) condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA polymerase binding (GO:0070182) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTTACACTGTTCTGTTGACTC 0.438 NA D, Mis, N, F AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia N||| 2202 0.439696 0.8585 0.3213 5008 , , NA 19976 0.244 NA 0.34 False NA ,,, NA NA NA 2504 0.2618 NA NA NA yes Rec Fanconi anaemia D2 3 3p26 2177 Fanconi anemia, complementation group D2 L 0 84 168 140 NA NA NA 3 NA NA 10091035 2183 4291 6474 SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) AF340183 CCDS2595.1, CCDS33696.1 3p25.3 2014-09-17 2001-10-05 ENSG00000144554 ENSG00000144554 2177 Fanconi anemia, complementation groups 3585 protein-coding gene gene with protein product 613984 FACD, FANCD NA 7581463, 11239453, 18475298 Standard XM_005264946 NA Approved FAD, FA-D2 uc003buw.3 Q9BXW9 OTTHUMG00000128670 ENST00000419585.1:c.1414-23T>C chr3.hg19:g.10091035T>C NA Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9 hg19 CCDS33696.1 0.02 -0.359444 TGTxCTG COVERED NOVEL FANCD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339873.1 0 2.442159 KEEP 3 1 37 21 648 TT 0.999869 0.899196 0 + 6 27 185 0 0 13.95426 35 60 962 90 ENST00000419585.1 0.146341 0.899314 VHL 7428 __UNKNOWN__ __UNKNOWN__ 3 10183026 10183026 __UNKNOWN__ 5'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:10183026A>G ENST00000256474.2 + 0 335 NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase NA NA cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) gatcacttgaacccaggagtt 0.483 1 D, Mis, N, F, S renal, hemangioma, pheochromocytoma renal, hemangioma, pheochromocytoma von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes von Hippel-Lindau syndrome 3 3p25 7428 von Hippel-Lindau syndrome gene E, M, O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant Familial Cancer Database VHL; ;Erythrocytosis, Familial type 2 L15409 CCDS2597.1, CCDS2598.1 3p25.3 2014-09-17 2012-02-23 ENSG00000134086 ENSG00000134086 7428 12687 protein-coding gene gene with protein product 608537 von Hippel-Lindau syndrome, von Hippel-Lindau tumor suppressor NA 9671762 Standard NM_000551 NM_000551 NA Approved VHL1 uc003bvc.3 P40337 OTTHUMG00000128668 ENST00000256474.2:c.-506A>G chr3.hg19:g.10183026A>G NA B2RE45|Q13599|Q6PDA9 hg19 CCDS2597.1 0.02 1.573027 TGAxCCC COVERED NOVEL VHL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250559.1 18 14.580629 KEEP 1 1 36 61 1967 AA 1 0.999895 0 + 5 60 166 0 0 10.788418 78 60 2299 206 ENST00000256474.2 0.060241 0.999895 VHL 7428 __UNKNOWN__ __UNKNOWN__ 3 10188141 10188141 __UNKNOWN__ Intron SNP G G A rs541565291 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:10188141G>A ENST00000256474.2 + 2 1180 VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_Intron NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase NA NA cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) tacaggtgtgggccaccgtgc 0.572 1 D, Mis, N, F, S renal, hemangioma, pheochromocytoma renal, hemangioma, pheochromocytoma von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia G||| 1 0.000199681 8e-04 0 5008 , , NA 16983 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA yes Rec yes von Hippel-Lindau syndrome 3 3p25 7428 von Hippel-Lindau syndrome gene E, M, O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database VHL; ;Erythrocytosis, Familial type 2 L15409 CCDS2597.1, CCDS2598.1 3p25.3 2014-09-17 2012-02-23 ENSG00000134086 ENSG00000134086 7428 12687 protein-coding gene gene with protein product 608537 von Hippel-Lindau syndrome, von Hippel-Lindau tumor suppressor NA 9671762 Standard NM_000551 NM_000551 NA Approved VHL1 uc003bvc.3 P40337 OTTHUMG00000128668 ENST00000256474.2:c.341-57G>A chr3.hg19:g.10188141G>A NA B2RE45|Q13599|Q6PDA9 hg19 CCDS2597.1 0.02 -0.385406 GTGxGCC COVERED NOVEL VHL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250559.1 2 9.83077 KEEP 0 1 32 44 1449 GG 1 0.918171 0 + 4 60 112 0 0 7.382365 38 60 1243 97 ENST00000256474.2 0.095238 0.918171 SEC13 6396 __UNKNOWN__ __UNKNOWN__ 3 10359628 10359628 __UNKNOWN__ Intron SNP T T A rs1642977 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:10359628T>A ENST00000397117.1 - 2 598 SEC13_ENST00000397109.3_Intron|SEC13_ENST00000350697.3_Intron|SEC13_ENST00000383801.2_Intron|SEC13_ENST00000337354.4_Intron P55735 SEC13_HUMAN SEC13 homolog (S. cerevisiae) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 CCACCCTGGATCCATGAATGA 0.512 NA T||| 784 0.15655 0.0658 0.0893 5008 , , NA 20657 0.3929 NA 0.1193 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2599.1, CCDS46751.1, CCDS63540.1 3p25-p24 2013-01-10 2006-11-07 2006-11-07 ENSG00000157020 ENSG00000157020 6396 WD repeat domain containing 10697 protein-coding gene gene with protein product 600152 SEC13 (S. cerevisiae)-like 1, SEC13-like 1 (S. cerevisiae) D3S1231E, SEC13L1 NA 7987303 Standard NM_183352 NA Approved SEC13R, npp-20 uc003bvn.3 P55735 OTTHUMG00000128671 ENST00000397117.1:c.6+105A>T chr3.hg19:g.10359628T>A NA A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7 hg19 0.02 -0.271851 GGAxCCA COVERED NOVEL SEC13-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000314429.1 1 5.715696 KEEP 0 0 0 19 578 TT 0.99986 0.717215 0 - 4 60 119 0 0 8.634747 27 60 785 67 ENST00000397117.1 0.129032 0.717315 COL6A4P1 344875 __UNKNOWN__ __UNKNOWN__ 3 15219711 15219711 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:15219711C>T ENST00000446690.2 - 0 249 NR_027927.1 collagen, type VI, alpha 4 pseudogene 1 NA NA NA AAGAGAGTCACTTTCAGATAA 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AB299979 3p25.1 2013-01-16 2010-05-24 2010-05-24 ENSG00000230524 ENSG00000230524 344875 Collagens 33484 pseudogene pseudogene von Willebrand factor A domain containing 6, collagen, type VI, alpha 4, collagen, type VI, alpha 4, pseudogene 612397 dual von Willebrand factor A domains DVWA NA 19507504, 19486942 Standard NR_027927 NR_027927 NA Approved VWA6, DIVA, COL6A4, COL6A4P uc011avo.1 OTTHUMG00000154983 ENST00000446690.2: chr3.hg19:g.15219711C>T NA hg19 0.02 -0.421071 TCAxTTT COVERED NOVEL COL6A4P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000337912.1 1 4.449074 KEEP 0 1 29 25 907 CC 0.999957 0.95445 0 - 9 60 279 0 0 22.136273 39 60 1340 110 ENST00000446690.2 0.1875 0.954491 COLQ 8292 __UNKNOWN__ __UNKNOWN__ 3 15563253 15563253 __UNKNOWN__ 5'UTR SNP C C T rs530131087|rs113510832|rs199925079 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:15563253C>T ENST00000383788.5 - 0 5 COLQ_ENST00000383785.2_5'UTR|COLQ_ENST00000383787.2_5'UTR|COLQ_ENST00000603808.1_5'UTR NM_005677.3 NP_005668.2 Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase NA NA acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105) basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202) endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 tgtgtgtgtgcgtgtgtgtgt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF057036 CCDS33709.1, CCDS43057.1, CCDS46768.1 3p 2008-07-18 ENSG00000206561 ENSG00000206561 8292 2226 protein-coding gene gene with protein product single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase, collagenic tail of endplate acetylcholinesterase, AChE Q subunit, acetylcholinesterase-associated collagen 603033 NA 9689136 Standard NM_005677 NM_005677 NA Approved EAD uc003bzx.3 Q9Y215 OTTHUMG00000156233 ENST00000383788.5:c.-121G>A chr3.hg19:g.15563253C>T NA B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88 hg19 CCDS33709.1 0.02 1.390166 GTGxGTG COVERED NOVEL COLQ-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000343575.1 3 4.665449 KEEP 0 3 89 47 1391 CC 1 0.996724 0 - 10 60 272 0 1 20.145377 52 60 1449 125 ENST00000383788.5 0.16129 0.996724 GALNT15 117248 __UNKNOWN__ __UNKNOWN__ 3 16270134 16270134 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:16270134T>C ENST00000437509.1 + 10 2216 GALNT15_ENST00000339732.5_3'UTR Q8N3T1 GLT15_HUMAN polypeptide N-acetylgalactosaminyltransferase 15 NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) NA ggtgacagagtgagactccat 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY358443 CCDS33711.1 3p25.1 2014-03-13 2014-03-13 2013-01-25 ENSG00000131386 ENSG00000131386 117248 2.4.1.41 Glycosyltransferase family 2 domain containing 21531 protein-coding gene gene with protein product polypeptide GalNAc transferase 15 615131 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GALNTL2 NA 12975309, 14702039, 15147861 Standard NM_054110 NM_054110 NA Approved GALNT7, pp-GalNAc-T15 uc003car.4 Q8N3T1 OTTHUMG00000156893 ENST00000437509.1:c.1774-3166T>C chr3.hg19:g.16270134T>C NA A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5 hg19 0.02 -0.315646 GAGxGAG COVERED NOVEL GALNT15-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000346609.1 4 2.702344 KEEP 0 0 0 9 231 TT 0.99254 0.812359 0 + 5 60 154 0 0 11.765628 27 60 743 55 ENST00000437509.1 0.15625 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 16283334 16283334 __UNKNOWN__ IGR SNP C C T rs182832938 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:16283334C>T NA NA GALNT15 (9835 upstream) : DPH3 (16150 downstream) NA NA NA ggattacagccgtgagccacc 0.532 NA C||| 2 0.000399361 0 0 5008 , , NA 18520 0.002 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.16283334C>T NA hg19 0.02 -0.130195 AGCxGTG COVERED NOVEL 0 1 2.40769 KEEP 2 0 0 8 273 CC 0.99257 0.259026 0 3 60 86 0 0 7.256863 8 60 215 43 0.272727 0.260965 RFTN1 23180 __UNKNOWN__ __UNKNOWN__ 3 16439496 16439496 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:16439496A>G ENST00000334133.4 - 4 714 RFTN1_ENST00000432519.1_Intron NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 NA NA B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138) cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234) double-stranded RNA binding (GO:0003725) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 gctcacgcctataatcccagc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D42043 CCDS33712.1 3p24.3 2010-04-09 ENSG00000131378 ENSG00000131378 23180 30278 protein-coding gene gene with protein product raft-linking protein NA 7788527, 12805216 Standard NM_015150 NM_015150 NA Approved MIG2, KIAA0084, FLJ23866, Raftlin uc003cay.3 Q14699 OTTHUMG00000156973 ENST00000334133.4:c.441+11385T>C chr3.hg19:g.16439496A>G NA Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2 hg19 CCDS33712.1 0.02 -0.227819 CCTxTAA COVERED NOVEL RFTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000346908.1 5 2.406838 KEEP 0 0 0 8 237 AA 0.99257 0.578599 0 - 3 60 103 0 0 7.807045 21 60 579 49 ENST00000334133.4 0.125 0.58293 EFHB 151651 __UNKNOWN__ __UNKNOWN__ 3 19925807 19925807 __UNKNOWN__ Intron SNP A A G rs9882578 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:19925807A>G ENST00000344838.4 - 13 1878 EFHB_ENST00000295824.9_Intron Q8N7U6 EFHB_HUMAN EF-hand domain family, member B NA NA calcium ion binding (GO:0005509) breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 GGGAAACTTAATCTAACGGAG 0.398 NA G||| 1986 0.396565 0.7436 0.3357 5008 , , NA 17696 0.0992 NA 0.3479 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK122616 CCDS33715.2 3p24.3 2014-07-18 ENSG00000163576 ENSG00000163576 151651 EF-hand domain containing 26330 protein-coding gene gene with protein product cilia and flagella associated protein 21 NA 12477932 Standard NM_144715 NM_144715 NA Approved FLJ25200, CFAP21 uc003cbl.4 Q8N7U6 OTTHUMG00000150505 ENST00000344838.4:c.1756+87T>C chr3.hg19:g.19925807A>G NA A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6 hg19 0.02 -0.05263 TTAxTCT UNCOVERED NOVEL EFHB-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000318674.2 1 2.708548 KEEP 0 0 0 9 297 AA 0.99254 0.036491 0 - 2 60 72 0 0 6.495856 4 60 120 16 ENST00000344838.4 0.333333 0.036766 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 22592496 22592496 __UNKNOWN__ IGR SNP G G A rs576328239 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:22592496G>A NA NA HMGB1P5 (168076 upstream) : UBE2E2-AS1 (644064 downstream) NA NA NA attgcactccggcctgggcaa 0.478 NA G||| 8 0.00159744 0.0061 0 5008 , , NA 16244 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.22592496G>A NA hg19 0.02 -0.297311 TCCxGCC COVERED NOVEL 0 8 3.310776 KEEP 0 0 0 11 386 GG 0.993072 0.775649 0 5 60 151 0 0 11.699736 24 60 789 64 0.172414 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 22739177 22739177 __UNKNOWN__ IGR SNP C C A rs13085224|rs72373545 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:22739177C>A NA NA HMGB1P5 (314757 upstream) : UBE2E2-AS1 (497383 downstream) NA NA NA aaaaaaaaaaccaaaaaaaaa 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.22739177C>A NA hg19 0.02 -0.139104 AAAxCAA UNCOVERED NOVEL 0 139 2.466052 KEEP 34 0 0 10 78 CC 0 0 0 3 39 82 0 0 9.6282 0 0 0 143 1 0.292001 THRB 7068 __UNKNOWN__ __UNKNOWN__ 3 24295582 24295582 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:24295582T>C ENST00000356447.4 - 3 243 THRB_ENST00000396671.2_Intron|THRB_ENST00000416420.1_Intron NM_000461.4|NM_001128177.1 NP_000452.2|NP_001121649.1 P10828 THB_HUMAN thyroid hormone receptor, beta NA NA female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509) extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583) cggccgggcgtggtggctcac 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(21;896 1043 15021 37958) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2641.1 3p24.2 2013-01-16 2011-05-19 ENSG00000151090 ENSG00000151090 7068 Nuclear hormone receptors 11799 protein-coding gene gene with protein product avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, oncogene ERBA2, generalized resistance to thyroid hormone, thyroid hormone receptor beta 1 190160 thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2), pituitary resistance to thyroid hormone, thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) ERBA2, PRTH NA 1973914, 8040303 Standard NM_000461 NM_000461 NA Approved THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH uc003ccy.4 P10828 OTTHUMG00000130478 ENST00000356447.4:c.42-25090A>G chr3.hg19:g.24295582T>C NA B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41 hg19 CCDS2641.1 0.02 -0.210205 GCGxGGT COVERED NOVEL THRB-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000252877.3 3 3.610438 KEEP 2 0 0 12 362 TT 0.993634 0.518837 0 - 3 60 103 0 0 7.92906 19 60 517 50 ENST00000356447.4 0.136364 0.522161 NGLY1 55768 __UNKNOWN__ __UNKNOWN__ 3 25802312 25802312 __UNKNOWN__ Intron SNP T T C rs372998895 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:25802312T>C ENST00000417874.2 - 3 540 NGLY1_ENST00000280700.5_Intron|NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000396649.3_Intron|NGLY1_ENST00000422724.2_Intron NM_001145294.1 NP_001138766.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 NA NA glycoprotein catabolic process (GO:0006516) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 gatcacgccattgcactccag 0.398 NA T||| 102 0.0203674 0.0658 0.0058 5008 , , NA 25721 0.001 NA 0 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF250924 CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1 3p23 2006-08-30 ENSG00000151092 ENSG00000151092 55768 17646 protein-coding gene gene with protein product 610661 NA Standard NM_018297 NA Approved FLJ11005, PNG1 uc003cdl.3 Q96IV0 OTTHUMG00000155600 ENST00000417874.2:c.366+3244A>G chr3.hg19:g.25802312T>C NA B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70 hg19 CCDS46777.1 0.02 1.327641 CCAxTGC COVERED NOVEL NGLY1-008 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000340839.2 127 4.81356 KEEP 50 0 0 16 474 TT 0.993072 0.9928 0 - 5 32 151 0 0 9.348828 76 60 2015 149 ENST00000417874.2 0.061728 0.999726 NEK10 152110 __UNKNOWN__ __UNKNOWN__ 3 27359566 27359566 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:27359566G>T ENST00000429845.2 - 8 810 NEK10_ENST00000341435.5_Intron Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 NA NA positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372) protein kinase complex (GO:1902911) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 agtgctgggagtacaggcgtg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK123061, AK057247 CCDS46781.1 3p24.1 2012-11-15 2012-11-15 ENSG00000163491 ENSG00000163491 152110 18592 protein-coding gene gene with protein product NIMA (never in mitosis gene a)- related kinase 10 NA 15289607 Standard NM_152534 NM_199347 NA Approved FLJ32685 uc003cdt.2 Q6ZWH5 OTTHUMG00000130571 ENST00000429845.2:c.448-3737C>A chr3.hg19:g.27359566G>T NA A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3 hg19 0.02 -0.131586 GGAxTAC COVERED NOVEL NEK10-016 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000438156.1 3 2.407892 KEEP 0 0 0 8 288 GG 0.99257 0.22747 0 - 3 60 89 0 0 7.072173 12 60 416 33 ENST00000429845.2 0.2 0.229173 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31871543 31871543 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:31871543C>T ENST00000396556.2 - 4 840 c.718G>A c.(718-720)Gaa>Aaa p.E240K OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 240 NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) p.E240K(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) TCTCTGACTTCGTGAAGCTGG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) large_intestine(2) 57 48 51 NA NA NA 3 NA NA 31871543 2203 4300 6503 SO:0001583 missense AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.718G>A chr3.hg19:g.31871543C>T ENSP00000379804:p.Glu240Lys NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 -0.228056 CTTxGTG COVERED . . . . . . . . . . C 29.8 5.036829 0.93630 . . ENSG00000144645 ENST00000396556;ENST00000428241 T;T 0.44881 0.91;0.91 5.81 4.93 0.64822 . 0.950904 0.08993 N 0.864142 T 0.57636 0.2067 L 0.61218 1.895 0.80722 D 1 D 0.57571 0.98 P 0.53518 0.728 T 0.49679 -0.8914 10 0.37606 T 0.19 -16.4671 16.8735 0.86045 0.0:0.8716:0.1284:0.0 . 240 Q9BXB5 OSB10_HUMAN K 240;19 ENSP00000379804:E240K;ENSP00000399200:E19K ENSP00000379804:E240K E - 1 0 OSBPL10 31846547 1.000000 0.71417 0.998000 0.56505 0.995000 0.86356 6.829000 0.75314 1.443000 0.47586 0.561000 0.74099 GAA NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 0 9.9309 KEEP 0 0 0 33 1097 CC 0.999998 0.582929 0 - 3 60 90 0 0 6.395552 23 60 733 73 ENST00000396556.2 0.115385 0.58293 CRTAP 10491 __UNKNOWN__ __UNKNOWN__ 3 33184407 33184407 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:33184407C>A ENST00000320954.6 + 0 1772 CRTAP_ENST00000449224.1_3'UTR NM_006371.4 NP_006362.1 O75718 CRTAP_HUMAN cartilage associated protein NA NA chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578) protein complex binding (GO:0032403) breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 tggcctcccacagtgctggga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ006470 CCDS2657.1 3p22 2014-09-17 ENSG00000170275 ENSG00000170275 10491 2379 protein-coding gene gene with protein product leprecan-like 3 605497 NA 9217321, 10429950 Standard NM_006371 NA Approved CASP, LEPREL3 uc003cfl.4 O75718 OTTHUMG00000130746 ENST00000320954.6:c.*467C>A chr3.hg19:g.33184407C>A NA B2RBL6 hg19 CCDS2657.1 0.02 -0.412261 CCAxAGT COVERED NOVEL CRTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253246.3 5 5.417414 KEEP 0 0 0 18 622 CC 0.999859 0.941609 0 + 6 60 171 0 0 12.486974 36 60 1185 76 ENST00000320954.6 0.142857 0.941741 AC093415.2 0 __UNKNOWN__ __UNKNOWN__ 3 37868813 37868813 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:37868813T>C ENST00000366441.2 - 0 154 AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000594579.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000430620.1_RNA NA NA NA cagtggctcatgcctgtaatc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000366441.2: chr3.hg19:g.37868813T>C NA hg19 0.02 -0.140249 TCAxGCC UNCOVERED NOVEL AC093415.2-003 KNOWN basic antisense NA processed_transcript OTTHUMT00000342352.1 5 2.407331 KEEP 2 0 0 8 250 TT 0 0 0 - 3 60 100 0 0 8.173281 12 60 322 31 ENST00000366441.2 0.2 0.260965 SCN11A 11280 __UNKNOWN__ __UNKNOWN__ 3 38945560 38945560 __UNKNOWN__ Silent SNP A A G rs4073113 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:38945560A>G ENST00000302328.3 - 12 1836 c.1638T>C c.(1636-1638)tgT>tgC p.C546C SCN11A_ENST00000444237.2_Silent_p.C546C|SCN11A_ENST00000456224.3_Silent_p.C546C|SCN11A_ENST00000450244.1_Silent_p.C546C NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 546 NA cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909) GGTTTTCTCCACAAGGGAGAC 0.507 NA G||| 3067 0.61242 0.4864 0.6888 5008 , , NA 19281 0.6369 NA 0.6471 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 G 2306,2100 575.0+/-383.9 590,1126,487 131 110 117 NA 1638 -0.8 1 3 dbSNP_108 117 5594,3006 463.5+/-366.0 1832,1930,538 no coding-synonymous SCN11A NM_014139.2 2422,3056,1025 GG,GA,AA NA 34.9535,47.6623,39.2588 546/1792 38945560 7900,5106 2203 4300 6503 SO:0001819 synonymous_variant AF126739 CCDS33737.1 3p22.2 2012-02-26 2007-01-23 ENSG00000168356 ENSG00000168356 11280 Sodium channels, Voltage-gated ion channels / Sodium channels 10583 protein-coding gene gene with protein product 604385 sodium channel, voltage-gated, type XI, alpha polypeptide, sodium channel, voltage-gated, type XII, alpha SCN12A NA 10444332, 16382098 Standard NM_014139 NM_014139 NA Approved Nav1.9, NaN, SNS-2 uc021wvy.1 Q9UI33 OTTHUMG00000048246 ENST00000302328.3:c.1638T>C chr3.hg19:g.38945560A>G NA A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0 hg19 CCDS33737.1 0.02 -0.263091 TCCxCAA COVERED NOVEL SCN11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109746.4 1 6.319407 KEEP 0 0 0 21 665 AA 0.999869 0.693577 0 - 3 60 100 0 0 7.197797 27 60 771 64 ENST00000302328.3 0.1 0.693668 GORASP1 64689 __UNKNOWN__ __UNKNOWN__ 3 39138395 39138395 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:39138395A>T ENST00000422110.2 - 0 2286 GORASP1_ENST00000319283.3_3'UTR NM_001278790.1 NP_001265719.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa NA NA Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031) Golgi membrane (GO:0000139) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) AGCTGGCCCCAGAACAGTCCT 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ409349 CCDS2681.1, CCDS63596.1, CCDS63597.1 3p22-p21.33 2008-04-23 2002-08-29 2002-05-24 ENSG00000114745 ENSG00000114745 64689 16769 protein-coding gene gene with protein product 606867 golgi phosphoprotein 5 GOLPH5 NA Standard NM_001278789 NA Approved GRASP65, P65, FLJ23443 uc003ciw.1 Q9BQQ3 OTTHUMG00000131292 ENST00000422110.2:c.*1332T>A chr3.hg19:g.39138395A>T NA B3KWC8|Q3SYG7|Q8N272|Q96H42 hg19 0.02 1.590365 CCCxGAA COVERED NOVEL GORASP1-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000342415.1 0 10.53271 KEEP 0 0 0 35 1122 AA 0.999999 0.981954 0 - 22 60 649 0 0 58.884828 35 60 1043 128 ENST00000422110.2 0.385965 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 39685498 39685498 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:39685498A>G NA NA MOBP (118397 upstream) : MYRIP (164906 downstream) NA NA NA actccagcctaggcaacagag 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.39685498A>G NA hg19 0.02 -0.429748 CCTxGGC COVERED NOVEL 0 2 4.212797 KEEP 0 0 0 14 439 AA 0.995343 0.950046 0 3 60 103 1 0 7.072517 38 60 1097 85 0.073171 0.954491 CYP8B1 1582 __UNKNOWN__ __UNKNOWN__ 3 42907431 42907431 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:42907431G>C ENST00000437102.1 - 1 1429 ACKR2_ENST00000273145.2_3'UTR|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_3'UTR|ACKR2_ENST00000422265.1_3'UTR Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 NA NA bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) tccctccctcgcttcttccct 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF090318 CCDS2707.1 3p22.1 2004-02-27 2003-01-14 ENSG00000180432 ENSG00000180432 1582 Cytochrome P450s 2653 protein-coding gene gene with protein product 602172 cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1 NA 10051404 Standard NM_004391 NM_004391 NA Approved CYP12 uc003cmh.3 Q9UNU6 OTTHUMG00000133047 ENST00000437102.1:c.1347+8530C>G chr3.hg19:g.42907431G>C NA B2RCY3|O75958|Q6NWT2|Q6NWT3 hg19 0.02 -0.368402 CTCxCTT COVERED NOVEL CYP8B1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344172.1 5 4.210745 KEEP 0 0 0 14 462 GG 0.995343 0.895126 0 - 4 60 118 0 1 7.979077 38 60 1222 63 ENST00000437102.1 0.095238 0.899314 ZNF445 353274 __UNKNOWN__ __UNKNOWN__ 3 44485368 44485368 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:44485368C>T ENST00000396077.2 - 0 6142 ZNF445_ENST00000425708.2_3'UTR NM_181489.5 NP_852466.1 P59923 ZN445_HUMAN zinc finger protein 445 NA NA transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) cagtggctcacgcctgtaatc 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY262260 CCDS2713.1 3p21.32 2013-01-09 2003-10-07 ENSG00000185219 ENSG00000185219 353274 Zinc fingers, C2H2-type, -, -, - 21018 protein-coding gene gene with protein product zinc finger protein 168 ZNF168 NA 7814019 Standard NM_181489 NM_181489 NA Approved ZKSCAN15, ZSCAN47 uc003cnf.2 P59923 OTTHUMG00000133042 ENST00000396077.2:c.*2699G>A chr3.hg19:g.44485368C>T NA Q3MJD1 hg19 CCDS2713.1 0.02 3.017682 TCAxGCC COVERED NOVEL ZNF445-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256647.2 27 14.102883 KEEP 3 2 66 70 2341 CC 1 0.999993 0 - 9 60 233 0 0 14.377395 96 60 3120 246 ENST00000396077.2 0.085714 0.999993 KIAA1143 57456 __UNKNOWN__ __UNKNOWN__ 3 44790618 44790618 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:44790618T>C ENST00000296121.4 - 0 4739 KIAA1143_ENST00000484437.1_Intron NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 NA NA NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) cggtggctcctgcctgtaatc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032969 CCDS2721.1 3p21.31 2005-08-15 ENSG00000163807 ENSG00000163807 57456 29198 protein-coding gene gene with protein product NA 10574461 Standard NM_020696 NM_020696 NA Approved uc011bac.2 Q96AT1 OTTHUMG00000133088 ENST00000296121.4:c.*4215A>G chr3.hg19:g.44790618T>C NA A8K0I4|Q96HJ8|Q9ULS7 hg19 CCDS2721.1 0.02 3.69216 TCCxGCC COVERED NOVEL KIAA1143-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256746.1 26 4.895764 KEEP 3 8 277 113 3600 TT 1 0.999984 0 - 7 50 240 1 0 16.732713 81 60 2467 297 ENST00000296121.4 0.079545 0.999984 CDCP1 64866 __UNKNOWN__ __UNKNOWN__ 3 45129294 45129294 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:45129294A>G ENST00000296129.1 - 8 2216 NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 NA NA extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) ggtggatcacaaggtcaagag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF468010 CCDS2727.1, CCDS46812.1 3p21.3 2006-03-28 ENSG00000163814 ENSG00000163814 64866 CD molecules 24357 protein-coding gene gene with protein product 611735 NA 11466621 Standard NM_022842 NM_022842 NA Approved CD318, SIMA135 uc003com.3 Q9H5V8 OTTHUMG00000133090 ENST00000296129.1:c.2081+1251T>C chr3.hg19:g.45129294A>G NA Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2 hg19 CCDS2727.1 0.02 -0.149063 CACxAGG COVERED NOVEL CDCP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256748.3 2 2.406607 KEEP 1 0 0 8 247 AA 0.99257 0.289832 0 - 3 40 97 0 0 7.692268 14 60 382 45 ENST00000296129.1 0.176471 0.292001 LIMD1 8994 __UNKNOWN__ __UNKNOWN__ 3 45715208 45715208 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:45715208A>C ENST00000440097.1 + 0 2591 LIMD1_ENST00000273317.4_Intron Q9UGP4 LIMD1_HUMAN LIM domains containing 1 NA NA cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442) transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) gagtttaagaacagcctgggc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ132408 CCDS2729.1 3p21.31 2008-02-01 ENSG00000144791 ENSG00000144791 8994 6612 protein-coding gene gene with protein product 604543 NA 10647888 Standard NM_014240 NM_014240 NA Approved uc003coq.3 Q9UGP4 OTTHUMG00000133453 ENST00000440097.1:c.*172A>C chr3.hg19:g.45715208A>C NA Q17RQ1|Q9BQQ9|Q9NQ47 hg19 0.02 -0.21923 AGAxCAG COVERED NOVEL LIMD1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000345079.1 3 8.123737 KEEP 0 0 0 27 825 AA 0.999988 0.552881 0 + 3 60 96 0 0 7.165488 20 70 561 63 ENST00000440097.1 0.130435 0.552887 ALS2CL 259173 __UNKNOWN__ __UNKNOWN__ 3 46730668 46730668 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:46730668A>G ENST00000318962.4 - 2 187 ALS2CL_ENST00000415953.1_Intron NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like NA NA endosome organization (GO:0007032)|protein localization (GO:0008104) cytoplasmic membrane-bounded vesicle (GO:0016023) GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) gcagtgagccaagatcgcacc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074118 CCDS2743.1, CCDS43080.1 3p21.31 2008-01-30 ENSG00000178038 ENSG00000178038 259173 20605 protein-coding gene gene with protein product 612402 NA 15388334, 8889548, 17239822 Standard NM_147129 NM_147129 NA Approved FLJ36525, RN49018, DKFZp686I0110 uc003cqb.2 Q60I27 OTTHUMG00000128673 ENST00000318962.4:c.103+159T>C chr3.hg19:g.46730668A>G NA Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7 hg19 CCDS2743.1 0.02 -0.2806 GCCxAGA COVERED NOVEL ALS2CL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250567.3 6 5.114885 KEEP 1 0 0 17 526 AA 0.999366 0.739203 0 - 3 60 95 0 0 6.698769 27 60 773 58 ENST00000318962.4 0.1 0.739671 DHX30 22907 __UNKNOWN__ __UNKNOWN__ 3 47849357 47849357 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:47849357C>T ENST00000348968.4 + 2 143 DHX30_ENST00000476446.1_Intron|DHX30_ENST00000446256.2_Intron|DHX30_ENST00000445061.1_Intron Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 NA NA cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) agtgctgggactacaggcatg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020697 CCDS2759.1 3p24.3-p22.1 2013-07-16 2013-07-16 2003-06-13 ENSG00000132153 ENSG00000132153 22907 DEAH-boxes 16716 protein-coding gene gene with protein product DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30, DEAH (Asp-Glu-Ala-His) box polypeptide 30 DDX30 NA 10048485, 18022663 Standard NM_138615 NM_138615 NA Approved KIAA0890, FLJ11214 uc003cru.3 Q7L2E3 OTTHUMG00000133522 ENST00000348968.4:c.-278+2447C>T chr3.hg19:g.47849357C>T NA A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0 hg19 0.02 -0.122667 GGAxTAC COVERED NOVEL DHX30-005 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000346137.1 2 2.708643 KEEP 0 0 0 9 321 CC 0.99254 0.194847 0 + 3 60 82 0 0 6.474906 11 60 341 26 ENST00000348968.4 0.214286 0.196312 MAP4 4134 __UNKNOWN__ __UNKNOWN__ 3 47896949 47896949 __UNKNOWN__ Intron SNP C C T rs561340297 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:47896949C>T ENST00000426837.2 - 19 6671 MAP4_ENST00000420772.2_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000264724.11_Intron|MAP4_ENST00000360240.6_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 NA NA cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) Docetaxel(DB01248)|Paclitaxel(DB01229) ATGAGACAGACGTGACCTGTT 0.493 NA C||| 2 0.000399361 0 0.0029 5008 , , NA 24194 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33750.1, CCDS46818.1, CCDS46821.1 3p21 2008-07-18 ENSG00000047849 ENSG00000047849 4134 6862 protein-coding gene gene with protein product 157132 NA 1905296 Standard NM_002375 NM_002375 NA Approved uc003csb.2 P27816 OTTHUMG00000156828 ENST00000426837.2:c.6584-99G>A chr3.hg19:g.47896949C>T NA Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9 hg19 0.02 -0.201674 AGAxGTG COVERED NOVEL MAP4-005 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000346089.2 2 3.610824 KEEP 0 0 0 12 392 CC 0.993634 0.487421 0 - 3 60 89 0 0 6.466173 20 60 610 43 ENST00000426837.2 0.130435 0.490544 MAP4 4134 __UNKNOWN__ __UNKNOWN__ 3 47971620 47971620 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:47971620C>T ENST00000426837.2 - 5 431 MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000360240.6_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 NA NA cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) Docetaxel(DB01248)|Paclitaxel(DB01229) gactgcgtctcaaaaaacaaa 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33750.1, CCDS46818.1, CCDS46821.1 3p21 2008-07-18 ENSG00000047849 ENSG00000047849 4134 6862 protein-coding gene gene with protein product 157132 NA 1905296 Standard NM_002375 NM_002375 NA Approved uc003csb.2 P27816 OTTHUMG00000156828 ENST00000426837.2:c.344-1780G>A chr3.hg19:g.47971620C>T NA Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9 hg19 0.02 -0.131541 TCTxAAA COVERED NOVEL MAP4-005 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000346089.2 6 3.009885 KEEP 0 0 0 10 364 CC 0.992708 0.227502 0 - 4 60 97 0 0 8.122364 9 60 291 35 ENST00000426837.2 0.307692 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 48166469 48166469 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:48166469C>T NA NA RN7SL664P (29874 upstream) : CDC25A (32166 downstream) NA NA NA catgagccaccgcaccgggcc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.48166469C>T NA hg19 0.02 -0.201754 CACxGCA COVERED NOVEL 0 8 3.310681 KEEP 0 0 0 11 382 CC 0.993072 0.487146 0 3 60 94 0 0 7.160883 17 60 554 50 0.15 0.490544 SHISA5 51246 __UNKNOWN__ __UNKNOWN__ 3 48533480 48533480 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:48533480C>T ENST00000443308.2 - 2 247 SHISA5_ENST00000442747.1_Intron|SHISA5_ENST00000296444.2_Intron|SHISA5_ENST00000444115.1_Intron Q8N114 SHSA5_HUMAN shisa family member 5 NA NA intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635) signal transducer activity (GO:0004871)|WW domain binding (GO:0050699) large_intestine(1)|lung(1) 2 aatcccagcactttgggaggc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF520698 CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1 3p21.31 2013-07-31 2013-07-31 ENSG00000164054 ENSG00000164054 51246 Shisa homologs 30376 protein-coding gene gene with protein product 607290 shisa homolog 5 (Xenopus laevis) NA 11042152, 12135983 Standard NM_016479 NM_016479 NA Approved SCOTIN, hShisa5 uc011bbk.1 Q8N114 OTTHUMG00000133529 ENST00000443308.2:c.212+5110G>A chr3.hg19:g.48533480C>T NA B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58 hg19 0.02 -0.315797 GCAxTTT UNCOVERED NOVEL SHISA5-009 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344713.2 36 2.708907 KEEP 30 0 0 9 326 CC 0 0 0 - 5 23 154 0 0 11.839314 26 50 887 76 ENST00000443308.2 0.16129 0.818465 ARIH2OS 646450 __UNKNOWN__ __UNKNOWN__ 3 48955519 48955519 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:48955519T>G ENST00000408959.2 - 0 1299 NM_001123040.1 NP_001116512.1 Q8N7S6 ARI2O_HUMAN ariadne homolog 2 opposite strand NA NA integral component of membrane (GO:0016021) NA gattacaggcttgagccaccg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant DA461567 CCDS43088.1 3p21.31 2012-10-08 2012-10-08 2012-10-08 ENSG00000221883 ENSG00000221883 646450 34425 protein-coding gene gene with protein product chromosome 3 open reading frame 71 C3orf71 NA Standard NM_001123040 NM_001123040 NA Approved uc010hkk.1 Q8N7S6 OTTHUMG00000156672 ENST00000408959.2:c.*191A>C chr3.hg19:g.48955519T>G NA hg19 CCDS43088.1 0.02 3.432201 GGCxTGA COVERED NOVEL ARIH2OS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345247.1 21 15.68597 KEEP 0 4 137 100 3166 TT 1 1 0 - 6 60 205 0 0 12.852228 122 60 3623 373 ENST00000408959.2 0.046875 1 LAMB2 3913 __UNKNOWN__ __UNKNOWN__ 3 49166705 49166705 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:49166705C>G ENST00000418109.1 - 13 1735 c.1571G>C c.(1570-1572)tGc>tCc p.C524S LAMB2_ENST00000305544.4_Missense_Mutation_p.C524S NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 524 Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}. NA astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202) structural molecule activity (GO:0005198) NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCCACGTCGCAGTCACAGGG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 41 46 45 NA NA NA 3 NA NA 49166705 2203 4300 6503 SO:0001583 missense CCDS2789.1 3p21.3-p21.2 2013-03-01 ENSG00000172037 ENSG00000172037 3913 Laminins 6487 protein-coding gene gene with protein product laminin S 150325 LAMS NA 2922051, 10393422 Standard NM_002292 NM_002292 NA Approved uc003cwe.3 P55268 OTTHUMG00000156807 ENST00000418109.1:c.1571G>C chr3.hg19:g.49166705C>G ENSP00000388325:p.Cys524Ser NA Q16321 hg19 CCDS2789.1 0.02 -0.342127 TCGxAGT COVERED . . . . . . . . . . C 27.6 4.849709 0.91277 . . ENSG00000172037 ENST00000418109;ENST00000305544 D;D 0.94280 -3.39;-3.39 5.16 5.16 0.70880 EGF-like, laminin (4); 0.054721 0.85682 D 0.000000 D 0.97914 0.9314 H 0.98754 4.32 0.80722 D 1 D 0.64830 0.994 P 0.57620 0.824 D 0.99771 1.1024 10 0.87932 D 0 . 18.659 0.91465 0.0:1.0:0.0:0.0 . 524 P55268 LAMB2_HUMAN S 524 ENSP00000388325:C524S;ENSP00000307156:C524S ENSP00000307156:C524S C - 2 0 LAMB2 49141709 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.481000 0.81124 2.392000 0.81423 0.655000 0.94253 TGC NOVEL LAMB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345939.1 1 10.233387 KEEP 0 0 0 34 1234 CC 0.999998 0.865744 0 - 23 60 767 0 0 76.204642 16 60 562 98 ENST00000418109.1 0.589744 0.865745 NICN1 84276 __UNKNOWN__ __UNKNOWN__ 3 49461321 49461321 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:49461321C>G ENST00000273598.3 - 0 1673 NICN1-AS1_ENST00000424915.1_RNA NM_032316.3 NP_115692.1 Q9BSH3 NICN1_HUMAN nicolin 1 NA NA microtubule (GO:0005874)|nucleus (GO:0005634) kidney(1)|large_intestine(3)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) tttcgctcttcttgcccaggc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ299740 CCDS2798.1 3p21.31 2008-07-18 ENSG00000145029 ENSG00000145029 84276 18317 protein-coding gene gene with protein product 611516 NA 12392556 Standard NM_032316 NM_032316 NA Approved MGC12936 uc003cwz.1 Q9BSH3 OTTHUMG00000156848 ENST00000273598.3:c.*945G>C chr3.hg19:g.49461321C>G NA Q8IZQ2 hg19 CCDS2798.1 0.02 1.736371 CTTxTTG COVERED NOVEL NICN1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346224.3 15 2.881934 KEEP 0 2 73 35 1244 CC 1 0.994422 0 - 5 60 170 1 0 12.153238 49 60 1641 137 ENST00000273598.3 0.092593 0.994422 BSN 8927 __UNKNOWN__ __UNKNOWN__ 3 49603524 49603524 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:49603524T>C ENST00000296452.4 + 1 338 NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein NA NA synaptic transmission (GO:0007268) axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788) metal ion binding (GO:0046872) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) tcccaaagtgttgggattaca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052224 CCDS2800.1 3p21 2013-01-07 2013-01-07 ENSG00000164061 ENSG00000164061 8927 1117 protein-coding gene gene with protein product zinc finger protein 231, neuronal double zinc finger protein 604020 bassoon (presynaptic cytomatrix protein) ZNF231 NA 9806829, 10329005 Standard NM_003458 NM_003458 NA Approved uc003cxe.4 Q9UPA5 OTTHUMG00000133750 ENST00000296452.4:c.224+11265T>C chr3.hg19:g.49603524T>C NA O43161|Q7LGH3 hg19 CCDS2800.1 0.02 -0.175414 GTGxTGG COVERED NOVEL BSN-001 KNOWN NMD_exception|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000258164.1 1 2.407505 KEEP 0 0 0 8 264 TT 0.99257 0.384528 0 + 3 60 106 0 0 8.360643 17 60 507 39 ENST00000296452.4 0.15 0.387407 CDHR4 389118 __UNKNOWN__ __UNKNOWN__ 3 49835998 49835998 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:49835998A>G ENST00000412678.2 - 4 504 CDHR4_ENST00000343366.4_3'UTR|CDHR4_ENST00000487256.1_3'UTR NM_001007540.2 NP_001007541.2 A6H8M9 CDHR4_HUMAN cadherin-related family member 4 NA NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 tccagcctggacgacagagca 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46829.1 3p21.31 2011-07-01 2010-01-25 2010-01-25 ENSG00000187492 ENSG00000187492 389118 Cadherins / Cadherin-related 34527 protein-coding gene gene with protein product cadherin-like 29 CDH29 NA Standard NM_001007540 NM_001007540 NA Approved VLLR9392 uc010hkz.3 A6H8M9 OTTHUMG00000158198 ENST00000412678.2:c.495+260T>C chr3.hg19:g.49835998A>G NA Q6UXT0 hg19 CCDS46829.1 0.02 3.598884 TGGxCGA COVERED NOVEL CDHR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350387.1 4 14.680047 KEEP 5 1 38 62 1986 AA 1 0.999999 0 - 6 46 180 2 1 10.994731 96 60 2865 211 ENST00000412678.2 0.058824 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 50384307 50384307 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:50384307T>C NA NA ZMYND10 (24 upstream) : NPRL2 (611 downstream) NA NA NA tcctgtcacctaggctggagt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.50384307T>C NA hg19 0.02 -0.2806 ACCxAGG COVERED NOVEL 0 6 4.047489 KEEP 0 1 36 26 812 TT 0.999988 0.739662 0 3 60 99 0 0 7.243039 24 60 695 76 0.111111 0.739671 DOCK3 1795 __UNKNOWN__ __UNKNOWN__ 3 51266861 51266861 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:51266861A>G ENST00000266037.9 + 19 1842 NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 NA NA small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) guanyl-nucleotide exchange factor activity (GO:0005085) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) cagcctgggcaacagagtgag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002297 CCDS46835.1 3p21 2008-02-01 ENSG00000088538 ENSG00000088538 1795 2989 protein-coding gene gene with protein product 603123 dedicator of cyto-kinesis 3 NA 9205841 Standard NM_004947 NM_004947 NA Approved KIAA0299, MOCA, PBP uc011bds.2 Q8IZD9 OTTHUMG00000156892 ENST00000266037.9:c.1820-82A>G chr3.hg19:g.51266861A>G NA O15017 hg19 CCDS46835.1 0.02 -0.341785 GGCxACA COVERED NOVEL DOCK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346478.5 4 4.509741 KEEP 1 0 0 15 433 AA 0.99649 0.862707 0 + 3 60 94 0 0 6.427799 31 60 903 71 ENST00000266037.9 0.088235 0.865745 VPRBP 9730 __UNKNOWN__ __UNKNOWN__ 3 51468965 51468965 __UNKNOWN__ Intron SNP C C T rs532710744 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:51468965C>T ENST00000335891.5 - 6 682 Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein NA NA B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) agcaagattccgtctcaaaaa 0.448 NA C||| 7 0.00139776 0 0 5008 , , NA 10837 0 NA 0.006 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018343 CCDS74943.1, CCDS74944.1 3p21.2 2011-06-17 ENSG00000145041 ENSG00000145041 9730 DDB1 and CUL4 associated factors 30911 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 1 NA 8195203, 11223251 Standard NM_014703 NM_014703 NA Approved KIAA0800, MGC102804, DCAF1 uc003dbe.2 Q9Y4B6 OTTHUMG00000156895 ENST00000335891.5:c.672+6789G>A chr3.hg19:g.51468965C>T NA Q2YD74|Q8TBD9|Q9HCA1|Q9UG37 hg19 0.02 -0.114024 TTCxGTC UNCOVERED NOVEL VPRBP-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 2.406975 KEEP 0 0 0 8 255 CC 0.99257 0.16126 0 - 3 60 91 2 0 7.878593 7 60 215 20 ENST00000335891.5 0.3 0.162467 VPRBP 9730 __UNKNOWN__ __UNKNOWN__ 3 51474921 51474921 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:51474921T>C ENST00000335891.5 - 6 682 Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein NA NA B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) gactccatcttaaatttaaaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018343 CCDS74943.1, CCDS74944.1 3p21.2 2011-06-17 ENSG00000145041 ENSG00000145041 9730 DDB1 and CUL4 associated factors 30911 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 1 NA 8195203, 11223251 Standard NM_014703 NM_014703 NA Approved KIAA0800, MGC102804, DCAF1 uc003dbe.2 Q9Y4B6 OTTHUMG00000156895 ENST00000335891.5:c.672+833A>G chr3.hg19:g.51474921T>C NA Q2YD74|Q8TBD9|Q9HCA1|Q9UG37 hg19 0.02 -0.288858 TCTxAAA COVERED NOVEL VPRBP-201 KNOWN basic|appris_principal protein_coding NA protein_coding 6 9.619717 KEEP 0 0 0 32 888 TT 0.999997 0.760885 0 - 3 60 96 1 0 6.848138 26 60 668 80 ENST00000335891.5 0.103448 0.760887 VPRBP 9730 __UNKNOWN__ __UNKNOWN__ 3 51501121 51501121 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:51501121G>A ENST00000335891.5 - 3 197 Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein NA NA B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) aggctgaggcgggcagatcac 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018343 CCDS74943.1, CCDS74944.1 3p21.2 2011-06-17 ENSG00000145041 ENSG00000145041 9730 DDB1 and CUL4 associated factors 30911 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 1 NA 8195203, 11223251 Standard NM_014703 NM_014703 NA Approved KIAA0800, MGC102804, DCAF1 uc003dbe.2 Q9Y4B6 OTTHUMG00000156895 ENST00000335891.5:c.188-229C>T chr3.hg19:g.51501121G>A NA Q2YD74|Q8TBD9|Q9HCA1|Q9UG37 hg19 0.02 -0.122812 GGCxGGC COVERED NOVEL VPRBP-201 KNOWN basic|appris_principal protein_coding NA protein_coding 10 2.706518 KEEP 1 0 0 9 297 GG 0.99254 0.194847 0 - 3 60 92 0 0 7.581805 10 60 336 31 ENST00000335891.5 0.230769 0.196312 STAB1 23166 __UNKNOWN__ __UNKNOWN__ 3 52545645 52545645 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:52545645G>A ENST00000321725.6 + 26 2863 NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 NA NA cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898) endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AGACAAGGCCGTCTGTTCCTA 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 66 43 51 NA NA NA 3 NA NA 52545645 2201 4299 6500 SO:0001627 intron_variant AJ275213 CCDS33768.1 3p21.31 2008-07-18 ENSG00000010327 ENSG00000010327 23166 18628 protein-coding gene gene with protein product MS-1 antigen, fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1, common lymphatic endothelial and vascular endothelial receptor-1 608560 NA 11829752, 12077138 Standard NM_015136 XM_005264973 NA Approved KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1 uc003dej.3 Q9NY15 OTTHUMG00000158574 ENST00000321725.6:c.2788-21G>A chr3.hg19:g.52545645G>A NA A7E297|Q8IUH0|Q8IUH1|Q93072 hg19 CCDS33768.1 0.02 2.749634 GCCxTCT COVERED NOVEL STAB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351380.2 0 37.914751 KEEP 0 0 0 126 4206 GG 1 0.999998 0 + 6 60 172 0 0 9.828336 110 60 3510 332 ENST00000321725.6 0.051724 0.999998 RFT1 91869 __UNKNOWN__ __UNKNOWN__ 3 53122603 53122603 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:53122603G>T ENST00000296292.3 - 0 5003 RP11-894J14.5_ENST00000607203.1_Intron NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) NA NA carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) integral component of membrane (GO:0016021) lipid transporter activity (GO:0005319) NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) GGCTGgtctggaatcccagca 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ318099 CCDS2869.1 3p21.1 2014-02-06 2005-01-26 ENSG00000163933 ENSG00000163933 91869 30220 protein-coding gene gene with protein product congenital disorder of glycosylation 1N 611908 RFT1, requiring fifty three 1 homolog (S. cerevisiae) NA 12477932 Standard NM_052859 NM_052859 NA Approved CDG1N uc003dgj.3 Q96AA3 OTTHUMG00000074035 ENST00000296292.3:c.*3316C>A chr3.hg19:g.53122603G>T NA Q96J03 hg19 CCDS2869.1 0.02 2.376762 CTGxAAT COVERED NOVEL RFT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157136.2 30 19.670002 KEEP 0 6 175 127 4459 GG 1 1 0 - 7 60 202 0 0 11.748582 122 60 4045 395 ENST00000296292.3 0.054264 1 RFT1 91869 __UNKNOWN__ __UNKNOWN__ 3 53122625 53122625 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:53122625T>C ENST00000296292.3 - 0 4981 RP11-894J14.5_ENST00000607203.1_Intron NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) NA NA carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) integral component of membrane (GO:0016021) lipid transporter activity (GO:0005319) NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) tttgggaggctgaggcaggag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ318099 CCDS2869.1 3p21.1 2014-02-06 2005-01-26 ENSG00000163933 ENSG00000163933 91869 30220 protein-coding gene gene with protein product congenital disorder of glycosylation 1N 611908 RFT1, requiring fifty three 1 homolog (S. cerevisiae) NA 12477932 Standard NM_052859 NM_052859 NA Approved CDG1N uc003dgj.3 Q96AA3 OTTHUMG00000074035 ENST00000296292.3:c.*3294A>G chr3.hg19:g.53122625T>C NA Q96J03 hg19 CCDS2869.1 0.02 3.250673 GGCxGAG COVERED NOVEL RFT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157136.2 27 26.743113 KEEP 1 2 69 113 3547 TT 1 1 0 - 7 60 213 0 0 12.965826 117 60 3539 348 ENST00000296292.3 0.056452 1 RFT1 91869 __UNKNOWN__ __UNKNOWN__ 3 53122890 53122890 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:53122890C>T ENST00000296292.3 - 0 4716 RP11-894J14.5_ENST00000607203.1_Intron NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) NA NA carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) integral component of membrane (GO:0016021) lipid transporter activity (GO:0005319) NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) cggtggctcacgcctgtaatc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ318099 CCDS2869.1 3p21.1 2014-02-06 2005-01-26 ENSG00000163933 ENSG00000163933 91869 30220 protein-coding gene gene with protein product congenital disorder of glycosylation 1N 611908 RFT1, requiring fifty three 1 homolog (S. cerevisiae) NA 12477932 Standard NM_052859 NM_052859 NA Approved CDG1N uc003dgj.3 Q96AA3 OTTHUMG00000074035 ENST00000296292.3:c.*3029G>A chr3.hg19:g.53122890C>T NA Q96J03 hg19 CCDS2869.1 0.02 -0.429722 TCAxGCC COVERED NOVEL RFT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157136.2 9 6.320023 KEEP 2 0 0 21 716 CC 0.999869 0.954366 0 - 4 60 112 1 0 7.216129 42 60 1300 105 ENST00000296292.3 0.086957 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 56734756 56734756 __UNKNOWN__ IGR SNP G G T rs75754260 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:56734756G>T NA NA FAM208A (17491 upstream) : ARHGEF3 (26689 downstream) NA NA NA ggtctcactcggtcacccagg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.56734756G>T NA hg19 0.02 -0.271925 CTCxGTC COVERED NOVEL 0 8 3.009684 KEEP 1 0 0 10 341 GG 0.99254 0.734154 0 3 60 92 0 0 6.543188 24 60 779 55 0.111111 0.739671 IL17RD 54756 __UNKNOWN__ __UNKNOWN__ 3 57141129 57141129 __UNKNOWN__ Intron SNP G G A rs145764174 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:57141129G>A ENST00000296318.7 - 6 639 IL17RD_ENST00000463523.1_Intron|IL17RD_ENST00000427856.2_Intron|IL17RD_ENST00000320057.5_Intron NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D NA NA signal transduction (GO:0007165) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TATGAGggccgggcgcggtgg 0.463 NA G||| 1 0.000199681 0 0 5008 , , NA 16421 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF494208 CCDS2880.2 3p21.1 2008-02-05 ENSG00000144730 ENSG00000144730 54756 Interleukins and interleukin receptors 17616 protein-coding gene gene with protein product 606807 NA 11802164, 12604616 Standard NM_017563 NM_017563 NA Approved SEF, IL17RLM, FLJ35755, IL-17RD uc003dil.3 Q8NFM7 OTTHUMG00000150171 ENST00000296318.7:c.551-947C>T chr3.hg19:g.57141129G>A NA Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0 hg19 CCDS2880.2 0.02 -0.228062 GCCxGGC COVERED NOVEL IL17RD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316680.1 10 2.708621 KEEP 1 0 0 9 312 GG 0.99254 0.578582 0 - 3 60 88 0 0 6.427895 19 60 621 49 ENST00000296318.7 0.136364 0.58293 FLNB 2317 __UNKNOWN__ __UNKNOWN__ 3 58053549 58053549 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:58053549A>G ENST00000490882.1 + 2 457 FLNB_ENST00000348383.5_Intron|FLNB_ENST00000429972.2_Intron|FLNB_ENST00000358537.3_Intron|FLNB_ENST00000357272.4_Intron|FLNB_ENST00000295956.4_Intron NM_001164317.1 NP_001157789.1 O75369 FLNB_HUMAN filamin B, beta NA NA actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) tgatccgcccacctccgcctc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF043045 CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1 3p14.3 2011-02-11 2009-07-23 ENSG00000136068 ENSG00000136068 2317 3755 protein-coding gene gene with protein product actin binding protein 278 603381 filamin B, beta (actin binding protein 278), Larsen syndrome 1 (autosomal dominant) FLN1L, LRS1 NA 8327473, 10449914, 14991055, 16801345 Standard NM_001457 NM_001457 NA Approved TAP, TABP, ABP-278, FH1 uc010hne.2 O75369 OTTHUMG00000159158 ENST00000490882.1:c.293-9224A>G chr3.hg19:g.58053549A>G NA B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9 hg19 CCDS54599.1 0.02 -0.254043 CCCxCCT UNCOVERED NOVEL FLNB-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000353570.1 6 2.344921 KEEP 1 0 0 8 218 AA 0 0 0 + 4 60 120 0 0 8.99632 23 60 658 60 ENST00000490882.1 0.148148 0.693668 FLNB 2317 __UNKNOWN__ __UNKNOWN__ 3 58053554 58053554 __UNKNOWN__ Intron SNP C C A rs371777091 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:58053554C>A ENST00000490882.1 + 2 457 FLNB_ENST00000348383.5_Intron|FLNB_ENST00000429972.2_Intron|FLNB_ENST00000358537.3_Intron|FLNB_ENST00000357272.4_Intron|FLNB_ENST00000295956.4_Intron NM_001164317.1 NP_001157789.1 O75369 FLNB_HUMAN filamin B, beta NA NA actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) cgcccacctccgcctcccaaa 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF043045 CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1 3p14.3 2011-02-11 2009-07-23 ENSG00000136068 ENSG00000136068 2317 3755 protein-coding gene gene with protein product actin binding protein 278 603381 filamin B, beta (actin binding protein 278), Larsen syndrome 1 (autosomal dominant) FLN1L, LRS1 NA 8327473, 10449914, 14991055, 16801345 Standard NM_001457 NM_001457 NA Approved TAP, TABP, ABP-278, FH1 uc010hne.2 O75369 OTTHUMG00000159158 ENST00000490882.1:c.293-9219C>A chr3.hg19:g.58053554C>A NA B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9 hg19 CCDS54599.1 0.02 -0.254375 CTCxGCC COVERED NOVEL FLNB-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000353570.1 6 2.708471 KEEP 1 0 0 9 311 CC 0.99257 0.688515 0 + 3 60 92 0 0 6.649536 22 60 748 60 ENST00000490882.1 0.12 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 61539537 61539537 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:61539537A>G NA NA FHIT (302404 upstream) : PTPRG (7705 downstream) NA NA NA ggaggccgagacgggcggatc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.61539537A>G NA hg19 0.02 -0.192962 GAGxCGG COVERED NOVEL 0 5 2.707485 KEEP 1 0 0 9 271 AA 0.99254 0.454342 0 3 60 102 0 0 7.826868 19 60 569 48 0.136364 0.457757 PTPRG 5793 __UNKNOWN__ __UNKNOWN__ 3 61906357 61906357 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:61906357T>C ENST00000474889.1 + 3 567 PTPRG_ENST00000295874.10_Intron NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G NA NA brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) cgtgagccactgcgcctggcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L09247 CCDS2895.1 3p21-p14 2013-02-11 ENSG00000144724 ENSG00000144724 5793 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9671 protein-coding gene gene with protein product 176886 PTPG NA 1711217 Standard NM_002841 NM_002841 NA Approved RPTPG uc003dlb.3 P23470 OTTHUMG00000158660 ENST00000474889.1:c.191-68942T>C chr3.hg19:g.61906357T>C NA B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5 hg19 CCDS2895.1 0.02 -0.15789 CACxGCG COVERED NOVEL PTPRG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351674.1 3 3.610552 KEEP 1 0 0 12 366 TT 0.993634 0.320751 0 + 3 60 101 0 0 8.178702 13 60 401 41 ENST00000474889.1 0.1875 0.322807 CADPS 8618 __UNKNOWN__ __UNKNOWN__ 3 62611082 62611082 __UNKNOWN__ Intron SNP G G A rs13061690 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:62611082G>A ENST00000383710.4 - 6 1675 CADPS_ENST00000283269.9_Intron|CADPS_ENST00000357948.3_Intron|CADPS_ENST00000490353.2_3'UTR NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator NA NA catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202) lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) acacacacacgcacacacatg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U36448 CCDS2898.1, CCDS2899.1, CCDS46858.1 3p21.1 2013-01-10 2008-08-28 ENSG00000163618 ENSG00000163618 8618 Pleckstrin homology (PH) domain containing 1426 protein-coding gene gene with protein product 604667 NA 1516133 Standard NM_003716, NM_183393, NM_183394 NM_183393 NA Approved CAPS, KIAA1121, CAPS1 uc003dll.2 Q9ULU8 OTTHUMG00000158651 ENST00000383710.4:c.1325+20314C>T chr3.hg19:g.62611082G>A NA A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2 hg19 CCDS46858.1 0.02 -0.333213 CACxCAC COVERED NOVEL CADPS-013 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351951.5 6 5.669458 KEEP 0 0 0 19 584 GG 0.99986 0.851864 0 - 4 60 124 2 0 8.962684 30 70 946 74 ENST00000383710.4 0.117647 0.851984 PRICKLE2 166336 __UNKNOWN__ __UNKNOWN__ 3 64131172 64131172 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:64131172A>G ENST00000564377.1 - 8 1838 PRICKLE2_ENST00000295902.6_Intron Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) NA NA establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175) apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) aaagtgctggaattacaggca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK127839 CCDS2902.1 3p14.3 2006-09-12 2006-09-12 ENSG00000163637 ENSG00000163637 166336 20340 protein-coding gene gene with protein product 608501 prickle-like 2 (Drosophila) NA 12525887 Standard NM_198859 NM_198859 NA Approved DKFZp686D143 uc003dmf.3 Q7Z3G6 OTTHUMG00000158789 ENST00000564377.1:c.1828+1333T>C chr3.hg19:g.64131172A>G NA Q0VF44 hg19 0.02 -0.219268 TGGxATT UNCOVERED NOVEL PRICKLE2-003 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000431928.1 11 2.407271 KEEP 3 0 0 8 252 AA 0 0 0 - 5 60 163 0 0 13.353087 19 60 568 51 ENST00000564377.1 0.208333 0.58293 TMF1 7110 __UNKNOWN__ __UNKNOWN__ 3 69071127 69071127 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:69071127A>G ENST00000398559.2 - 0 4699 TMF1_ENST00000543976.1_3'UTR|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA P82094 TMF1_HUMAN TATA element modulatory factor 1 NA NA acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712) cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) gagccacagcacctggccGTA 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43105.1 3p21-p12 2009-02-11 ENSG00000144747 ENSG00000144747 7110 11870 protein-coding gene gene with protein product 601126 NA 1409643 Standard NM_007114 NM_007114 NA Approved ARA160, TMF uc003dnn.3 P82094 OTTHUMG00000158771 ENST00000398559.2:c.*1201T>C chr3.hg19:g.69071127A>G NA B7ZLJ2|Q17R87|Q59GK0 hg19 CCDS43105.1 0.02 -0.438497 AGCxCCT COVERED NOVEL TMF1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000352106.1 5 4.04233 KEEP 0 1 33 25 751 AA 0.999957 0.959818 0 - 3 60 103 0 0 6.977458 41 60 1208 105 ENST00000398559.2 0.068182 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 70183130 70183130 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:70183130T>C NA NA RP11-460N16.1 (118661 upstream) : RP11-231I13.2 (62914 downstream) NA NA NA tgcggtggcttacgcctgtaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.70183130T>C NA hg19 0.02 -0.201683 GCTxACG COVERED NOVEL 0 5 2.406993 KEEP 0 0 0 8 244 TT 0.99257 0.4869 0 5 60 167 0 0 13.857331 18 60 493 49 0.217391 0.490544 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679944 75679944 __UNKNOWN__ RNA SNP C C T rs7614638 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75679944C>T ENST00000408868.1 + 0 31 NR_031714.1 microRNA 1324 NA NA NA CTGGTCCTGCCCTCACTGGGA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 48 51 50 NA NA NA 3 NA NA 75679944 1568 3576 5144 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679944C>T NA hg19 0.02 6.64164 TGCxCTC COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 3 6.548459 KEEP 8 8 239 106 3529 CC 1 1 0 + 18 49 520 0 0 39.875031 85 50 2749 492 ENST00000408868.1 0.174757 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679945 75679945 __UNKNOWN__ RNA SNP C C G rs201625997 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75679945C>G ENST00000408868.1 + 0 32 NR_031714.1 microRNA 1324 NA NA NA TGGTCCTGCCCTCACTGGGAA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 50 53 52 NA NA NA 3 NA NA 75679945 1568 3578 5146 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679945C>G NA hg19 0.02 11.453573 GCCxTCA COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 3 7.999183 KEEP 8 5 158 82 2790 CT 1 1 0 + 13 49 423 0 0 31.434768 92 50 2936 504 ENST00000408868.1 0.12381 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75680006 75680006 __UNKNOWN__ RNA SNP T T C rs58827088 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75680006T>C ENST00000408868.1 + 0 93 NR_031714.1 microRNA 1324 NA NA NA TCCTGGAGGCTCCATGCTGGT 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 50 51 NA NA NA 3 NA NA 75680006 1568 3573 5141 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75680006T>C NA hg19 0.02 22.935836 GGCxCCA COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 14 47.061613 KEEP 37 9 275 253 8076 TT 1 1 0 + 29 60 961 0 0 68.789387 266 60 8039 1377 ENST00000408868.1 0.098305 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75680122 75680122 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75680122C>A NA NA MIR1324 (113 upstream) : FRG2C (33358 downstream) NA NA NA CCTCCCTAGTCCCTTTGCAGA 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75680122C>A NA hg19 0.02 2.585878 AGTxCCT COVERED NOVEL 0 3 10.232748 KEEP 42 3 82 63 2139 CC 1 0.999978 0 17 50 449 0 0 35.815989 56 50 1748 206 0.232877 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75691718 75691718 __UNKNOWN__ IGR SNP T T C rs151337419 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75691718T>C NA NA MIR1324 (11709 upstream) : FRG2C (21762 downstream) NA NA NA agtcagaacatgcttactata 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75691718T>C NA hg19 0.02 5.387985 ACAxGCT COVERED NOVEL 0 4 2.938354 KEEP 0 4 141 59 1865 TT 1 1 0 6 60 200 0 0 15.318499 37 60 1109 352 0.139535 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75692666 75692666 __UNKNOWN__ IGR SNP G G C rs78326969 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75692666G>C NA NA MIR1324 (12657 upstream) : FRG2C (20814 downstream) NA NA NA gggtcatctcggtagggctgg 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75692666G>C NA hg19 0.02 -0.131578 CTCxGTA COVERED NOVEL 0 2 3.611329 KEEP 0 0 0 12 398 GG 0.994391 0.227888 0 3 39 104 0 0 10.854268 1 60 33 41 0.75 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75692771 75692771 __UNKNOWN__ IGR SNP G G A rs200333156 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75692771G>A NA NA MIR1324 (12762 upstream) : FRG2C (20709 downstream) NA NA NA ggatgcgctggaccccttgat 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75692771G>A NA hg19 0.02 -0.105233 CTGxACC UNCOVERED NOVEL 0 1 4.212938 KEEP 0 0 0 14 461 GG 0.995343 0.139181 0 3 43 78 0 0 6.931293 5 60 172 28 0.375 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75692896 75692896 __UNKNOWN__ IGR SNP C C T rs62248974 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75692896C>T NA NA MIR1324 (12887 upstream) : FRG2C (20584 downstream) NA NA NA cactgaaacacccctgggatg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75692896C>T NA hg19 0.02 1.280563 ACAxCCC COVERED NOVEL 0 6 9.487647 KEEP 18 2 61 53 1840 CC 1 0.999317 0 4 60 126 1 0 8.320292 50 60 1668 228 0.074074 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75695651 75695651 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75695651C>A NA NA MIR1324 (15642 upstream) : FRG2C (17829 downstream) NA NA NA cacacctgtactcccagcact 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75695651C>A NA hg19 0.02 3.105172 GTAxTCC COVERED NOVEL 0 19 3.913002 KEEP 0 0 0 13 482 CC 0.994391 0.994359 0 6 60 173 0 0 11.989541 48 60 1639 172 0.111111 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75695827 75695827 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75695827C>A NA NA MIR1324 (15818 upstream) : FRG2C (17653 downstream) NA NA NA atggcttgaacttgggaggga 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75695827C>A NA hg19 0.02 1.708452 GAAxTTG COVERED NOVEL 0 10 5.116005 KEEP 1 0 0 17 587 CC 0.999366 0.976246 0 4 60 123 0 0 8.277935 43 60 1452 105 0.085106 0.976865 FRG2C 100288801 __UNKNOWN__ __UNKNOWN__ 3 75714895 75714895 __UNKNOWN__ Silent SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75714895G>A ENST00000464571.1 + 4 599 c.549G>A c.(547-549)tcG>tcA p.S183S FRG2C_ENST00000308062.3_Silent_p.S184S A6NGY1 FRG2C_HUMAN FSHD region gene 2 family, member C 184 NA nucleus (GO:0005634) breast(2)|ovary(1) 3 GAGCTATGTCGGAGGCTGTTT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS43108.1 3p12.3 2009-11-25 ENSG00000172969 ENSG00000172969 100288801 33626 protein-coding gene gene with protein product NA Standard NM_001124759.1 NM_001124759 NA Approved A6NGY1 OTTHUMG00000158963 ENST00000464571.1:c.549G>A chr3.hg19:g.75714895G>A NA hg19 0.02 9.132372 GTCxGAG COVERED NOVEL FRG2C-002 NOVEL NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000352695.1 10 39.57432 KEEP 8 10 321 244 8278 GG 1 1 0 + 19 40 581 0 0 38.754179 210 60 6753 778 ENST00000464571.1 0.082969 1 FRG2C 100288801 __UNKNOWN__ __UNKNOWN__ 3 75715683 75715683 __UNKNOWN__ 3'UTR SNP G G T rs147008592 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75715683G>T ENST00000464571.1 + 0 1387 FRG2C_ENST00000308062.3_3'UTR A6NGY1 FRG2C_HUMAN FSHD region gene 2 family, member C NA NA nucleus (GO:0005634) breast(2)|ovary(1) 3 ggcatgtaccgccatgcctgg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43108.1 3p12.3 2009-11-25 ENSG00000172969 ENSG00000172969 100288801 33626 protein-coding gene gene with protein product NA Standard NM_001124759.1 NM_001124759 NA Approved A6NGY1 OTTHUMG00000158963 ENST00000464571.1:c.*491G>T chr3.hg19:g.75715683G>T NA hg19 0.02 2.848342 ACCxCCA COVERED NOVEL FRG2C-002 NOVEL NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000352695.1 26 5.582804 KEEP 2 2 49 36 1176 GG 1 0.999998 0 + 7 60 201 0 0 13.661541 61 60 1969 190 ENST00000464571.1 0.102941 0.999998 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75769887 75769887 __UNKNOWN__ Intron SNP G G T rs77308174 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75769887G>T ENST00000491507.1 - 5 544 Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 taaacccagtgctttgagaag 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000491507.1:c.1798-4195C>A chr3.hg19:g.75769887G>T NA hg19 0.02 -0.298232 AGTxCTT COVERED NOVEL ZNF717-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000352766.1 6 2.708836 KEEP 0 0 0 9 322 GG 0.99254 0.812359 0 - 3 60 83 0 0 6.379623 13 60 433 60 ENST00000491507.1 0.1875 0.818465 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75772703 75772703 __UNKNOWN__ Intron SNP C C T rs145110958 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75772703C>T ENST00000491507.1 - 5 544 Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 ctctttattccaatattataa 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000491507.1:c.1798-7011G>A chr3.hg19:g.75772703C>T NA hg19 0.02 -0.175435 TTCxAAT COVERED NOVEL ZNF717-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000352766.1 3 2.70832 KEEP 0 0 0 9 285 CC 0.99254 0.384517 0 - 3 60 94 0 0 7.901068 9 60 283 32 ENST00000491507.1 0.25 0.387407 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786073 75786073 __UNKNOWN__ Missense_Mutation SNP C C G rs140806462 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75786073C>G ENST00000478296.1 - 4 2827 c.2551G>C c.(2551-2553)Gag>Cag p.E851Q ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.E894Q|ZNF717_ENST00000422325.1_Missense_Mutation_p.E901Q Q9BY31 ZN717_HUMAN zinc finger protein 717 891 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TAGCCTGCCTCAGCTACGTCA 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 3 NA NA 75786073 83 226 309 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.2551G>C chr3.hg19:g.75786073C>G ENSP00000419377:p.Glu851Gln NA hg19 0.02 7.715606 CCTxAGC COVERED . . . . . . . . . . . 3.589 -0.083944 0.07141 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.06849 3.25;3.41;3.39 0.741 0.741 0.18336 . . . . . T 0.02455 0.0075 N 0.08118 0 0.80722 P 0.0 P 0.41624 0.757 B 0.19666 0.026 T 0.39800 -0.9596 8 0.25751 T 0.34 . 4.9429 0.13975 0.0:1.0:0.0:0.0 . 901 C9JSV9 . Q 851;901;894 ENSP00000419377:E851Q;ENSP00000409514:E901Q;ENSP00000383643:E894Q ENSP00000383643:E894Q E - 1 0 ZNF717 75868763 0.001000 0.12720 0.001000 0.08648 0.008000 0.06430 -0.203000 0.09438 0.735000 0.32537 0.442000 0.29010 GAG NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 8 14.95662 KEEP 0 3 107 87 3051 CC 1 1 0 - 9 60 305 0 0 21.308247 100 60 3297 404 ENST00000478296.1 0.082569 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786244 75786244 __UNKNOWN__ Missense_Mutation SNP A A T rs201924124|rs386662581 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75786244A>T ENST00000478296.1 - 4 2656 c.2380T>A c.(2380-2382)Tgt>Agt p.C794S ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.C837S|ZNF717_ENST00000422325.1_Missense_Mutation_p.C844S Q9BY31 ZN717_HUMAN zinc finger protein 717 834 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CATTCATTACATCTAAAGGGT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 3 3 3 NA NA NA 3 NA NA 75786244 456 1074 1530 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.2380T>A chr3.hg19:g.75786244A>T ENSP00000419377:p.Cys794Ser NA hg19 0.02 9.478968 TACxTCT COVERED . . . . . . . . . . . 15.35 2.808963 0.50421 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 D;D;D 0.85171 -1.95;-1.95;-1.95 1.46 1.46 0.22682 . . . . . D 0.93048 0.7787 H 0.94925 3.6 0.21499 N 0.999661 D 0.89917 1.0 D 0.97110 1.0 T 0.82478 -0.0437 9 0.72032 D 0.01 . 7.0699 0.25173 1.0:0.0:0.0:0.0 . 844 C9JSV9 . S 794;844;837 ENSP00000419377:C794S;ENSP00000409514:C844S;ENSP00000383643:C837S ENSP00000383643:C837S C - 1 0 ZNF717 75868934 0.992000 0.36948 0.012000 0.15200 0.014000 0.08584 6.263000 0.72521 0.959000 0.37980 0.363000 0.22086 TGT NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 11 26.378462 KEEP 0 3 92 120 3732 AA 1 1 0 - 13 60 373 0 0 23.665344 155 60 4539 633 ENST00000478296.1 0.077381 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786687 75786687 __UNKNOWN__ Missense_Mutation SNP A A T rs80214016 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75786687A>T ENST00000478296.1 - 4 2213 c.1937T>A c.(1936-1938)cTc>cAc p.L646H ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.L689H|ZNF717_ENST00000422325.1_Missense_Mutation_p.L696H Q9BY31 ZN717_HUMAN zinc finger protein 717 686 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCCCGGTGTGAGTTCTCTGAT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 4 4 NA NA NA 3 NA NA 75786687 576 1439 2015 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.1937T>A chr3.hg19:g.75786687A>T ENSP00000419377:p.Leu646His NA hg19 0.02 5.770145 GTGxGTT COVERED . . . . . . . . . . . 5.999 0.368292 0.11352 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.07688 3.17;3.33;3.32 1.63 -1.62 0.08372 . . . . . T 0.03959 0.0111 N 0.11756 0.17 0.09310 N 0.999998 B 0.06786 0.001 B 0.04013 0.001 T 0.40534 -0.9558 9 0.72032 D 0.01 . 2.2385 0.04014 0.4226:0.0:0.338:0.2395 rs6668837;rs52802391;rs6668837 696 C9JSV9 . H 646;696;689 ENSP00000419377:L646H;ENSP00000409514:L696H;ENSP00000383643:L689H ENSP00000383643:L689H L - 2 0 ZNF717 75869377 0.001000 0.12720 0.003000 0.11579 0.001000 0.01503 -0.548000 0.06048 -0.465000 0.06953 -0.721000 0.03606 CTC NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 10 4.855005 KEEP 0 7 219 93 2974 AA 1 1 0 - 12 60 364 0 0 24.355439 128 60 3906 474 ENST00000478296.1 0.085714 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786993 75786993 __UNKNOWN__ Missense_Mutation SNP T T A rs149887072 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75786993T>A ENST00000478296.1 - 4 1907 c.1631A>T c.(1630-1632)aAt>aTt p.N544I ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.N587I|ZNF717_ENST00000422325.1_Missense_Mutation_p.N594I Q9BY31 ZN717_HUMAN zinc finger protein 717 587 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CTCACATTCATTACATTCATA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 5 4 NA NA NA 3 NA NA 75786993 562 1458 2020 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.1631A>T chr3.hg19:g.75786993T>A ENSP00000419377:p.Asn544Ile NA hg19 0.02 5.925834 TCAxTAC COVERED . . . . . . . . . . . 12.22 1.873449 0.33069 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.07567 3.18;3.18;3.18 1.9 -2.88 0.05682 . . . . . T 0.10380 0.0254 L 0.52823 1.66 0.09310 N 1 P 0.50369 0.934 P 0.49421 0.61 T 0.12811 -1.0533 9 0.41790 T 0.15 . 3.9431 0.09336 0.0:0.3016:0.4104:0.288 . 594 C9JSV9 . I 544;594;587 ENSP00000419377:N544I;ENSP00000409514:N594I;ENSP00000383643:N587I ENSP00000383643:N587I N - 2 0 ZNF717 75869683 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -1.944000 0.01538 -0.642000 0.05480 0.450000 0.29827 AAT NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 9 9.731652 KEEP 0 4 127 77 2423 TT 1 1 0 - 10 60 293 1 0 17.554025 161 60 4720 415 ENST00000478296.1 0.05848 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75787576 75787576 __UNKNOWN__ Missense_Mutation SNP A A G rs141348932 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75787576A>G ENST00000478296.1 - 4 1324 c.1048T>C c.(1048-1050)Tgt>Cgt p.C350R ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.C393R|ZNF717_ENST00000422325.1_Missense_Mutation_p.C400R Q9BY31 ZN717_HUMAN zinc finger protein 717 393 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 GTTTTTCCACATTCACTACAC 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 3 2 2 NA NA NA 3 NA NA 75787576 307 776 1083 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.1048T>C chr3.hg19:g.75787576A>G ENSP00000419377:p.Cys350Arg NA hg19 0.02 9.179871 CACxTTC COVERED . . . . . . . . . . . 13.93 2.384531 0.42308 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 D;D;D 0.85955 -2.05;-2.05;-2.05 2.05 0.775 0.18527 . . . . . D 0.93406 0.7897 H 0.97962 4.115 0.21553 P 0.999646003 D 0.76494 0.999 D 0.66602 0.945 D 0.91129 0.4936 8 0.87932 D 0 . 5.6439 0.17579 0.7572:0.0:0.0:0.2428 . 400 C9JSV9 . R 350;400;393 ENSP00000419377:C350R;ENSP00000409514:C400R;ENSP00000383643:C393R ENSP00000383643:C393R C - 1 0 ZNF717 75870266 0.996000 0.38824 0.014000 0.15608 0.062000 0.15995 4.717000 0.61923 0.240000 0.21263 0.445000 0.29226 TGT NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 12 13.045153 KEEP 0 6 199 113 3537 AA 1 1 0 - 15 60 500 1 0 32.946939 220 60 6557 581 ENST00000478296.1 0.06383 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75787583 75787583 __UNKNOWN__ Silent SNP A A G rs144348996 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75787583A>G ENST00000478296.1 - 4 1317 c.1041T>C c.(1039-1041)tgT>tgC p.C347C ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Silent_p.C390C|ZNF717_ENST00000422325.1_Silent_p.C397C Q9BY31 ZN717_HUMAN zinc finger protein 717 390 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CACATTCACTACACTGATAGG 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 3 2 2 NA NA NA 3 NA NA 75787583 329 872 1201 SO:0001819 synonymous_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.1041T>C chr3.hg19:g.75787583A>G NA hg19 0.02 9.669627 ACTxCAC COVERED NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 12 11.23274 KEEP 0 6 220 114 3416 AA 1 1 0 - 10 60 336 1 0 20.352496 229 60 6427 575 ENST00000478296.1 0.041841 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75787620 75787620 __UNKNOWN__ Missense_Mutation SNP T T C rs75737034 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75787620T>C ENST00000478296.1 - 4 1280 c.1004A>G c.(1003-1005)cAt>cGt p.H335R ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.H378R|ZNF717_ENST00000422325.1_Missense_Mutation_p.H385R Q9BY31 ZN717_HUMAN zinc finger protein 717 378 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 AGTTCTGTGATGTAAAGTGAG 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 4 4 NA NA NA 3 NA NA 75787620 421 1216 1637 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.1004A>G chr3.hg19:g.75787620T>C ENSP00000419377:p.His335Arg NA hg19 0.02 9.294142 TGAxGTA COVERED . . . . . . . . . . . 14.01 2.408565 0.42715 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 D;D;D 0.86865 -2.18;-2.18;-2.18 1.92 1.92 0.25849 . . . . . D 0.94430 0.8208 H 0.96889 3.9 0.42793 P 0.006093000000000015 D 0.89917 1.0 D 0.68353 0.957 D 0.94548 0.7751 8 0.72032 D 0.01 . 7.9079 0.29774 0.0:0.0:0.0:1.0 . 385 C9JSV9 . R 335;385;378 ENSP00000419377:H335R;ENSP00000409514:H385R;ENSP00000383643:H378R ENSP00000383643:H378R H - 2 0 ZNF717 75870310 0.996000 0.38824 0.018000 0.16275 0.015000 0.08874 2.021000 0.41020 1.189000 0.43028 0.445000 0.29226 CAT NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 12 5.670242 KEEP 0 8 290 120 3685 TT 1 1 0 - 17 60 524 0 0 34.305076 210 60 6266 557 ENST00000478296.1 0.07489 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75787770 75787770 __UNKNOWN__ Missense_Mutation SNP C C T rs74873974 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75787770C>T ENST00000478296.1 - 4 1130 c.854G>A c.(853-855)gGg>gAg p.G285E ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.G328E|ZNF717_ENST00000422325.1_Missense_Mutation_p.G335E Q9BY31 ZN717_HUMAN zinc finger protein 717 328 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.G335E(1) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 GGGCTTTTCCCCTGTGTGAAT 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) stomach(1) 10 8 9 NA NA NA 3 NA NA 75787770 269 657 926 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.854G>A chr3.hg19:g.75787770C>T ENSP00000419377:p.Gly285Glu NA hg19 0.02 12.530677 TCCxCTG COVERED . . . . . . . . . . . 14.10 2.434796 0.43224 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.25749 1.78;1.78;1.78 1.78 0.859 0.19036 . . . . . T 0.35278 0.0926 L 0.41236 1.265 0.27898 N 0.939072 D 0.65815 0.995 D 0.71656 0.974 T 0.13710 -1.0499 9 0.56958 D 0.05 . 6.458 0.21940 0.0:0.8247:0.0:0.1753 rs2209201 335 C9JSV9 . E 285;335;328 ENSP00000419377:G285E;ENSP00000409514:G335E;ENSP00000383643:G328E ENSP00000383643:G328E G - 2 0 ZNF717 75870460 0.003000 0.15002 0.021000 0.16686 0.095000 0.18619 0.736000 0.26130 0.332000 0.23536 0.545000 0.68477 GGG NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 38 36.573133 KEEP 0 12 380 255 8769 CC 1 1 0 - 16 60 480 0 0 30.352475 217 60 7182 1001 ENST00000478296.1 0.06867 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75787918 75787918 __UNKNOWN__ Missense_Mutation SNP C C T rs199663998 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75787918C>T ENST00000478296.1 - 4 982 c.706G>A c.(706-708)Gtt>Att p.V236I ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.V279I|ZNF717_ENST00000422325.1_Missense_Mutation_p.V286I Q9BY31 ZN717_HUMAN zinc finger protein 717 279 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TCACATTCAACACATTCATAG 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 2 1 2 NA NA NA 3 NA NA 75787918 208 435 643 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.706G>A chr3.hg19:g.75787918C>T ENSP00000419377:p.Val236Ile NA hg19 0.02 6.304321 CAAxACA COVERED . . . . . . . . . . . 7.050 0.564219 0.13498 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.17691 2.26;2.26;2.26 1.73 -3.47 0.04753 . . . . . T 0.07863 0.0197 N 0.20483 0.58 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.33471 -0.9867 9 0.41790 T 0.15 . 1.0 0.01475 0.1947:0.1513:0.3921:0.2619 . 286 C9JSV9 . I 236;286;279 ENSP00000419377:V236I;ENSP00000409514:V286I;ENSP00000383643:V279I ENSP00000383643:V279I V - 1 0 ZNF717 75870608 0.000000 0.05858 0.000000 0.03702 0.016000 0.09150 -3.897000 0.00339 -0.850000 0.04152 -1.648000 0.00760 GTT NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 6 6.535095 KEEP 0 9 268 116 4072 CC 1 1 0 - 8 60 226 0 1 14.219775 95 60 3192 488 ENST00000478296.1 0.07767 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75788040 75788040 __UNKNOWN__ Missense_Mutation SNP G G A rs111880168 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75788040G>A ENST00000478296.1 - 4 860 c.584C>T c.(583-585)gCc>gTc p.A195V ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.A238V|ZNF717_ENST00000422325.1_Missense_Mutation_p.A245V Q9BY31 ZN717_HUMAN zinc finger protein 717 238 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 GTTATTACAGGCTTTCTCATA 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 16 13 14 NA NA NA 3 NA NA 75788040 271 687 958 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.584C>T chr3.hg19:g.75788040G>A ENSP00000419377:p.Ala195Val NA hg19 0.02 5.106621 CAGxCTT COVERED . . . . . . . . . . . 10.42 1.345899 0.24426 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.06849 3.25;3.42;3.42 2.2 -1.69 0.08186 . . . . . T 0.06280 0.0162 L 0.51853 1.615 0.80722 P 0.0 P 0.43477 0.808 B 0.35607 0.206 T 0.30119 -0.9989 8 0.33940 T 0.23 . 5.4407 0.16507 0.0:0.1833:0.2625:0.5542 . 245 C9JSV9 . V 195;245;238 ENSP00000419377:A195V;ENSP00000409514:A245V;ENSP00000383643:A238V ENSP00000383643:A238V A - 2 0 ZNF717 75870730 0.000000 0.05858 0.000000 0.03702 0.016000 0.09150 0.231000 0.17872 -0.338000 0.08413 0.447000 0.29281 GCC NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 10 9.694171 KEEP 0 8 256 122 4130 GG 1 1 0 - 9 60 240 1 0 14.869127 99 60 3297 490 ENST00000478296.1 0.083333 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75788432 75788432 __UNKNOWN__ Missense_Mutation SNP T T A rs143693332 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75788432T>A ENST00000478296.1 - 4 468 c.192A>T c.(190-192)caA>caT p.Q64H ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.Q107H|ZNF717_ENST00000422325.1_Missense_Mutation_p.Q114H Q9BY31 ZN717_HUMAN zinc finger protein 717 107 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.Q114H(1) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TGATTACAATTTGCCAGAAAA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) stomach(1) 1 1 1 NA NA NA 3 NA NA 75788432 366 869 1235 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.192A>T chr3.hg19:g.75788432T>A ENSP00000419377:p.Gln64His NA hg19 0.02 4.166099 AATxTGC COVERED . . . . . . . . . . . 10.54 1.378407 0.24944 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.46819 0.86;0.86;0.86 2.13 0.901 0.19284 . . . . . T 0.43322 0.1242 N 0.21373 0.66 0.09310 N 1 D 0.54964 0.969 P 0.56042 0.79 T 0.25433 -1.0132 9 0.51188 T 0.08 . 6.8345 0.23929 0.0:0.0:0.2348:0.7651 rs11122680 114 C9JSV9 . H 64;114;107 ENSP00000419377:Q64H;ENSP00000409514:Q114H;ENSP00000383643:Q107H ENSP00000383643:Q107H Q - 3 2 ZNF717 75871122 0.001000 0.12720 0.006000 0.13384 0.005000 0.04900 0.097000 0.15168 0.264000 0.21851 -0.462000 0.05337 CAA NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 5 8.627871 KEEP 0 3 92 61 1961 TT 1 1 0 - 12 60 338 0 0 21.329386 140 60 4100 320 ENST00000478296.1 0.078947 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75840528 75840528 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75840528G>A NA NA ZNF717 (5810 upstream) : ROBO2 (115317 downstream) NA NA NA gcatggtgatgcatgcctgtg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75840528G>A NA hg19 0.02 2.416725 GATxCAT COVERED NOVEL 0 54 4.048707 KEEP 21 1 33 25 895 GG 0.999892 0.999886 0 9 48 250 0 0 16.337988 87 60 2973 223 0.09375 0.999994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75841503 75841503 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:75841503G>A NA NA ZNF717 (6785 upstream) : ROBO2 (114342 downstream) NA NA NA gtggcaaggggtgtgtgagtg 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75841503G>A NA hg19 0.02 -0.219304 GGGxTGT UNCOVERED NOVEL 0 0 2.407916 KEEP 4 0 0 8 288 GG 0 0 0 3 49 95 0 0 7.772685 11 60 368 52 0.214286 0.552887 GBE1 2632 __UNKNOWN__ __UNKNOWN__ 3 81810711 81810711 __UNKNOWN__ 5'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:81810711G>T ENST00000429644.2 - 0 601 NM_000158.3 NP_000149 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 NA NA carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) GAGGTCGAGTGGGGCCTGAGC 0.731 NA Glycogen Storage Disease, type IV NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 5 6 6 NA NA NA 3 NA NA 81810711 1827 3973 5800 SO:0001623 5_prime_UTR_variant Familial Cancer Database Andersen Disease, Brancher deficiency CCDS54612.1 3p12.2 2013-09-20 2008-08-01 ENSG00000114480 ENSG00000114480 2632 2.4.1.18 4180 protein-coding gene gene with protein product glycogen branching enzyme, Andersen disease, glycogen storage disease type IV 607839 NA 8463281 Standard NM_000158 NA Approved uc021xav.1 Q04446 OTTHUMG00000158978 ENST00000429644.2:c.-43C>A chr3.hg19:g.81810711G>T NA B3KWV3|Q96EN0 hg19 CCDS54612.1 0.02 -0.368335 AGTxGGG COVERED . . . . . . . . . . G 2.899 -0.227903 0.06022 . . ENSG00000114480 ENST00000264326 . . . 2.94 -1.29 0.09288 . . . . . T 0.19805 0.0476 . . . 0.30544 N 0.766142 . . . . . . T 0.33701 -0.9858 5 0.13853 T 0.58 . 3.3117 0.07018 0.4053:0.2113:0.3833:0.0 . . . . Q 38 . ENSP00000264326:P38Q P - 2 0 GBE1 81893401 0.001000 0.12720 0.407000 0.26434 0.158000 0.22134 -0.143000 0.10296 -0.179000 0.10654 -1.406000 0.01132 CCA NOVEL GBE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352760.2 2 9.928996 KEEP 0 0 0 33 1100 GG 0.999998 0.899312 0 - 25 60 710 0 0 70.6042 17 60 556 93 ENST00000429644.2 0.595238 0.899314 DHFRL1 200895 __UNKNOWN__ __UNKNOWN__ 3 93778105 93778105 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:93778105A>T ENST00000394221.2 - 0 2700 DHFRL1_ENST00000314636.2_3'UTR|DHFRL1_ENST00000481631.1_Intron NM_001195643.1 NP_001182572.1 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 NA NA glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661) kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 tcacccaggcaggagtgcagt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832912 CCDS2926.1 3q11.2 2005-08-16 2005-02-07 ENSG00000178700 ENSG00000178700 200895 27309 protein-coding gene gene with protein product dihydrofolate reductase pseudogene 4 DHFRP4 NA 12477932 Standard NM_176815 NM_001195643 NA Approved FLJ16119 uc003drj.3 Q86XF0 OTTHUMG00000159014 ENST00000394221.2:c.*1687T>A chr3.hg19:g.93778105A>T NA D3DN30|Q6P4I9 hg19 CCDS2926.1 0.02 4.147174 GGCxGGA COVERED NOVEL DHFRL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352910.1 17 10.49818 KEEP 2 2 66 58 1777 AA 1 1 0 - 7 60 209 0 0 11.404145 174 60 5167 337 ENST00000394221.2 0.038674 1 DHFRL1 200895 __UNKNOWN__ __UNKNOWN__ 3 93778300 93778300 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:93778300C>T ENST00000394221.2 - 0 2505 DHFRL1_ENST00000314636.2_3'UTR|DHFRL1_ENST00000481631.1_Intron NM_001195643.1 NP_001182572.1 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 NA NA glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661) kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 cacctcagccccccaaagtgc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832912 CCDS2926.1 3q11.2 2005-08-16 2005-02-07 ENSG00000178700 ENSG00000178700 200895 27309 protein-coding gene gene with protein product dihydrofolate reductase pseudogene 4 DHFRP4 NA 12477932 Standard NM_176815 NM_001195643 NA Approved FLJ16119 uc003drj.3 Q86XF0 OTTHUMG00000159014 ENST00000394221.2:c.*1492G>A chr3.hg19:g.93778300C>T NA D3DN30|Q6P4I9 hg19 CCDS2926.1 0.02 6.250841 GCCxCCC COVERED NOVEL DHFRL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352910.1 19 17.993768 KEEP 1 1 35 72 2508 CC 1 1 0 - 10 60 290 0 0 16.388003 199 60 6597 391 ENST00000394221.2 0.047847 1 FILIP1L 11259 __UNKNOWN__ __UNKNOWN__ 3 99617348 99617348 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:99617348T>C ENST00000331335.5 - 4 1076 FILIP1L_ENST00000398326.2_3'UTR|FILIP1L_ENST00000354552.3_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like NA NA cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 cgttggctcatgcctgttatc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1 3q12.1 2011-10-21 ENSG00000168386 ENSG00000168386 11259 24589 protein-coding gene gene with protein product downregulated in ovarian cancer 1, GPBP-interacting protein of 130 kDa 612993 NA 8314147, 15935955, 21832087 Standard NM_014890 NM_001282793 NA Approved DOC-1, GIP130 uc003dtm.3 Q4L180 OTTHUMG00000159055 ENST00000331335.5:c.605+25725A>G chr3.hg19:g.99617348T>C NA B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0 hg19 CCDS43118.1 0.02 -0.429746 TCAxGCC COVERED NOVEL FILIP1L-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353070.1 8 3.143182 KEEP 0 1 30 21 663 TT 0.999879 0.954375 0 - 3 60 101 1 0 6.717909 43 60 1269 93 ENST00000331335.5 0.065217 0.954491 FILIP1L 11259 __UNKNOWN__ __UNKNOWN__ 3 99637088 99637088 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:99637088A>G ENST00000331335.5 - 4 1076 FILIP1L_ENST00000398326.2_Intron|FILIP1L_ENST00000354552.3_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like NA NA cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 ccaaagtgctaggattacagg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1 3q12.1 2011-10-21 ENSG00000168386 ENSG00000168386 11259 24589 protein-coding gene gene with protein product downregulated in ovarian cancer 1, GPBP-interacting protein of 130 kDa 612993 NA 8314147, 15935955, 21832087 Standard NM_014890 NM_001282793 NA Approved DOC-1, GIP130 uc003dtm.3 Q4L180 OTTHUMG00000159055 ENST00000331335.5:c.605+5985T>C chr3.hg19:g.99637088A>G NA B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0 hg19 CCDS43118.1 0.02 -0.210492 GCTxGGA COVERED NOVEL FILIP1L-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353070.1 4 2.708514 KEEP 1 0 0 9 292 AA 0.99254 0.518266 0 - 3 60 103 0 0 8.21017 15 60 438 48 ENST00000331335.5 0.166667 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 100816743 100816743 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:100816743A>G NA NA ABI3BP (104384 upstream) : snoU13 (103932 downstream) NA NA NA caccgtgcccagccTAAACTG 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.100816743A>G NA hg19 0.02 3.446626 CCCxGCC COVERED NOVEL 0 22 18.290038 KEEP 1 1 38 74 2342 AA 1 1 0 6 60 194 0 0 11.926905 114 60 3437 269 0.05 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 101405919 101405919 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:101405919G>A NA NA RPL24 (293 upstream) : CEP97 (36849 downstream) NA NA NA aggttcaagcgattctcctgc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.101405919G>A NA hg19 0.02 -0.114017 AGCxATT COVERED NOVEL 0 3 2.708732 KEEP 0 0 0 9 306 GG 0.99254 0.194847 0 3 60 87 0 0 7.082135 10 60 309 28 0.230769 0.196312 CEP97 79598 __UNKNOWN__ __UNKNOWN__ 3 101450258 101450258 __UNKNOWN__ Intron SNP C C T rs11717046 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:101450258C>T ENST00000494050.1 + 5 469 CEP97_ENST00000341893.3_Intron|CEP97_ENST00000327230.4_Intron NM_024548.2 NP_078824.2 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa NA NA cell projection organization (GO:0030030) centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 ttgcccaggccggtctcaaac 0.498 NA T||| 1294 0.258387 0.1967 0.2882 5008 , , NA 17263 0.2927 NA 0.335 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833269 CCDS2944.1 3q12.3 2014-02-20 2008-01-08 2008-01-08 ENSG00000182504 ENSG00000182504 79598 26244 protein-coding gene gene with protein product 615864 leucine-rich repeats and IQ motif containing 2 LRRIQ2 NA 17719545, 18068367 Standard NM_024548 NM_024548 NA Approved FLJ23047 uc003dvk.1 Q8IW35 OTTHUMG00000159162 ENST00000494050.1:c.448-426C>T chr3.hg19:g.101450258C>T NA B5MDY8|Q8NA71|Q9H5T9 hg19 0.02 -0.201589 GGCxGGT COVERED NOVEL CEP97-003 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000353632.1 10 3.009764 KEEP 0 0 0 10 349 CC 0.992708 0.486967 0 + 4 60 123 0 0 9.77059 17 60 535 46 ENST00000494050.1 0.190476 0.490544 CEP97 79598 __UNKNOWN__ __UNKNOWN__ 3 101459699 101459699 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:101459699T>C ENST00000494050.1 + 6 750 CEP97_ENST00000341893.3_Intron|CEP97_ENST00000462076.1_Intron|CEP97_ENST00000327230.4_Intron NM_024548.2 NP_078824.2 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa NA NA cell projection organization (GO:0030030) centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 tcccaaagtgttgggattaca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833269 CCDS2944.1 3q12.3 2014-02-20 2008-01-08 2008-01-08 ENSG00000182504 ENSG00000182504 79598 26244 protein-coding gene gene with protein product 615864 leucine-rich repeats and IQ motif containing 2 LRRIQ2 NA 17719545, 18068367 Standard NM_024548 NM_024548 NA Approved FLJ23047 uc003dvk.1 Q8IW35 OTTHUMG00000159162 ENST00000494050.1:c.728+8201T>C chr3.hg19:g.101459699T>C NA B5MDY8|Q8NA71|Q9H5T9 hg19 0.02 -0.201722 GTGxTGG COVERED NOVEL CEP97-003 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000353632.1 4 3.009251 KEEP 0 0 0 10 321 TT 0.992708 0.486967 0 + 3 60 107 0 0 8.460683 17 60 492 47 ENST00000494050.1 0.15 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 103501545 103501545 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:103501545T>C NA NA MIR548AB (258585 upstream) : AC016970.1 (272006 downstream) NA NA NA ggattacaggtgtgagccacc 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.103501545T>C NA hg19 0.02 -0.236819 AGGxGTG COVERED NOVEL 0 8 2.403917 KEEP 0 0 0 8 222 TT 0.99257 0.607857 0 4 60 133 0 0 10.594403 19 60 578 55 0.173913 0.612407 CBLB 868 __UNKNOWN__ __UNKNOWN__ 3 105460528 105460528 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:105460528C>T ENST00000264122.4 - 7 1167 CBLB_ENST00000545639.1_Intron|CBLB_ENST00000403724.1_Intron|CBLB_ENST00000405772.1_Intron|CBLB_ENST00000394027.3_Intron NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase NA NA cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 catgagccaccgcgcctggcc 0.547 NA Mis S AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(93;588 1337 9788 29341 43499) Rec yes 3 3q13.11 868 Cas-Br-M (murine) ecotropic retroviral transforming sequence b L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U26710 CCDS2948.1 3q 2013-07-09 2013-07-09 ENSG00000114423 ENSG00000114423 868 RING-type (C3HC4) zinc fingers 1542 protein-coding gene gene with protein product 604491 Cas-Br-M (murine) ectropic retroviral transforming sequence b, Cas-Br-M (murine) ecotropic retroviral transforming sequence b NA 7784085 Standard NM_170662 XM_005247853 NA Approved RNF56, Cbl-b uc003dwc.3 Q13191 OTTHUMG00000150654 ENST00000264122.4:c.846-1053G>A chr3.hg19:g.105460528C>T NA A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5 hg19 CCDS2948.1 0.02 -0.228059 CACxGCG COVERED NOVEL CBLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319417.2 10 2.708766 KEEP 2 0 0 9 313 CC 0.99257 0.578599 0 - 4 60 119 0 0 9.036697 21 60 690 50 ENST00000264122.4 0.16 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 107043651 107043651 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:107043651G>A NA NA RP11-446H18.5 (2060 upstream) : RP11-446H18.6 (4625 downstream) NA NA NA cctgagctcaggcaatcctcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.107043651G>A NA hg19 0.02 -0.350847 TCAxGCA COVERED NOVEL 0 10 2.408036 KEEP 0 0 0 8 301 GG 0.99257 0.871187 0 3 60 93 1 0 6.32777 31 60 1056 70 0.088235 0.877708 DZIP3 9666 __UNKNOWN__ __UNKNOWN__ 3 108396539 108396539 __UNKNOWN__ Intron SNP G G A rs545769872 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:108396539G>A ENST00000361582.3 + 26 3113 DZIP3_ENST00000463306.1_Intron NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 NA NA protein polyubiquitination (GO:0000209) cytoplasm (GO:0005737) ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TTTAACGTGTGTTCAAAATGG 0.348 NA G||| 1 0.000199681 8e-04 0 5008 , , NA 21654 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF279370 CCDS2952.1 3q13.13 2013-05-22 2013-05-22 ENSG00000198919 ENSG00000198919 9666 RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 30938 protein-coding gene gene with protein product human RNA-binding ubiquitin ligase of 138 kDa, protein phosphatase 1, regulatory subunit 66 608672 DAZ interacting protein 3, zinc finger NA 9734811, 12538761 Standard NM_014648 NM_014648 NA Approved hRUL138, PPP1R66 uc003dxd.3 Q86Y13 OTTHUMG00000159232 ENST00000361582.3:c.2883+94G>A chr3.hg19:g.108396539G>A NA B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9 hg19 CCDS2952.1 0.02 -0.183643 TGTxTTC COVERED NOVEL DZIP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353968.1 2 5.414741 KEEP 0 0 0 18 582 GG 0.999859 0.423418 0 + 4 60 105 0 0 7.976135 17 60 540 44 ENST00000361582.3 0.190476 0.423478 RETNLB 84666 __UNKNOWN__ __UNKNOWN__ 3 108474585 108474585 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:108474585C>G ENST00000295755.6 - 0 574 RETNLB_ENST00000482939.1_Intron NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta NA NA cell proliferation (GO:0008283) extracellular region (GO:0005576) endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GGTTTCATTACTGTCATGGTC 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 67 68 67 NA NA NA 3 NA NA 108474585 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF290873 CCDS2953.1 3q13.1 2008-02-05 ENSG00000163515 ENSG00000163515 84666 20388 protein-coding gene gene with protein product 605645 NA 10921885, 12574343 Standard NM_032579 NA Approved HXCP2, FIZZ2, RELMb uc003dxh.2 Q9BQ08 OTTHUMG00000159393 ENST00000295755.6:c.*40G>C chr3.hg19:g.108474585C>G NA Q14D27 hg19 CCDS2953.1 0.02 6.281382 TTAxTGT COVERED NOVEL RETNLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355093.1 7 57.787669 KEEP 0 0 0 192 6929 CC 1 1 0 - 56 60 1930 0 0 173.812725 109 60 3713 480 ENST00000295755.6 0.339394 1 RP11-231E6.1 0 __UNKNOWN__ __UNKNOWN__ 3 112118840 112118840 __UNKNOWN__ lincRNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:112118840C>T ENST00000486726.2 - 0 61 NA NA NA actgagcaccctgtgaccccc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000486726.2: chr3.hg19:g.112118840C>T NA hg19 0.02 -0.385813 ACCxTGT COVERED NOVEL RP11-231E6.1-001 KNOWN not_organism_supported|basic lincRNA NA lincRNA OTTHUMT00000354086.2 6 2.708946 KEEP 1 0 0 9 327 CC 0.99254 0.911321 0 - 4 40 107 0 0 6.840137 39 60 1332 82 ENST00000486726.2 0.093023 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 112322111 112322111 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:112322111T>C NA NA RP11-572C15.6 (1362 upstream) : CCDC80 (1295 downstream) NA NA NA cagtggctcatgcctgtaatc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.112322111T>C NA hg19 0.02 -0.306919 TCAxGCC COVERED NOVEL 0 7 3.009204 KEEP 0 0 0 10 314 TT 0.992708 0.79441 0 4 60 135 0 0 10.00877 31 60 895 72 0.114286 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 112390321 112390321 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:112390321A>G NA NA CCDC80 (30174 upstream) : RP11-572C15.5 (64972 downstream) NA NA NA gattacaggcatgagccacca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.112390321A>G NA hg19 0.02 -0.236778 GGCxTGA COVERED NOVEL 0 6 2.406967 KEEP 0 0 0 8 238 AA 0.99257 0.607857 0 3 60 96 0 0 6.995269 23 60 666 47 0.115385 0.612407 SIDT1 54847 __UNKNOWN__ __UNKNOWN__ 3 113286322 113286322 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:113286322C>G ENST00000264852.4 + 3 1070 SIDT1_ENST00000393830.3_Intron NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 NA NA dsRNA transport (GO:0033227) integral component of membrane (GO:0016021) RNA transmembrane transporter activity (GO:0051033) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 GCTCCTTTCCCTGCTCATTCA 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000181 CCDS2974.1 3q13.31 2009-11-26 ENSG00000072858 ENSG00000072858 54847 25967 protein-coding gene gene with protein product 606816 NA Standard NM_017699 NM_017699 NA Approved FLJ20174, SID-1 uc003eak.3 Q9NXL6 OTTHUMG00000159299 ENST00000264852.4:c.345-65C>G chr3.hg19:g.113286322C>G NA Q17RR4 hg19 CCDS2974.1 0.02 -0.271878 TCCxTGC COVERED NOVEL SIDT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317564.1 0 3.243735 KEEP 0 1 23 19 654 CC 0.999863 0.717217 0 + 19 60 575 0 0 57.995297 11 60 367 61 ENST00000264852.4 0.633333 0.717315 SIDT1 54847 __UNKNOWN__ __UNKNOWN__ 3 113311716 113311716 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:113311716T>A ENST00000264852.4 + 10 1727 SIDT1_ENST00000393830.3_Intron NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 NA NA dsRNA transport (GO:0033227) integral component of membrane (GO:0016021) RNA transmembrane transporter activity (GO:0051033) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 tacaggtgtgtgccaccgcac 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000181 CCDS2974.1 3q13.31 2009-11-26 ENSG00000072858 ENSG00000072858 54847 25967 protein-coding gene gene with protein product 606816 NA Standard NM_017699 NM_017699 NA Approved FLJ20174, SID-1 uc003eak.3 Q9NXL6 OTTHUMG00000159299 ENST00000264852.4:c.1002-136T>A chr3.hg19:g.113311716T>A NA Q17RR4 hg19 CCDS2974.1 0.02 3.087193 GTGxGCC COVERED NOVEL SIDT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317564.1 22 4.577093 KEEP 1 2 65 38 1123 TT 1 1 0 + 11 60 332 0 0 22.66488 105 60 3018 261 ENST00000264852.4 0.094828 1 KIAA2018 205717 __UNKNOWN__ __UNKNOWN__ 3 113372200 113372200 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:113372200T>C ENST00000491165.1 - 7 667 KIAA2018_ENST00000478658.1_3'UTR|KIAA2018_ENST00000316407.4_3'UTR Q68DE3 K2018_HUMAN KIAA2018 NA NA membrane (GO:0016020)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 cctgtaatcctggcactttgg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB095938 CCDS43133.1 3q13.2 2014-01-02 ENSG00000176542 ENSG00000176542 205717 30494 protein-coding gene gene with protein product NA Standard NM_001009899 XM_005247208 NA Approved uc003eam.3 Q68DE3 OTTHUMG00000159322 ENST00000491165.1:c.257-3503A>G chr3.hg19:g.113372200T>C NA Q7Z3L9|Q8IVF3|Q9H8T4 hg19 0.02 5.762384 TCCxGGC COVERED NOVEL KIAA2018-002 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000354588.2 19 12.7679 KEEP 3 1 36 55 1743 TT 1 1 0 - 8 60 279 0 0 18.457322 130 60 3958 308 ENST00000491165.1 0.057971 1 KIAA2018 205717 __UNKNOWN__ __UNKNOWN__ 3 113372201 113372201 __UNKNOWN__ Intron SNP G G A rs551405613 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:113372201G>A ENST00000491165.1 - 7 667 KIAA2018_ENST00000478658.1_3'UTR|KIAA2018_ENST00000316407.4_3'UTR Q68DE3 K2018_HUMAN KIAA2018 NA NA membrane (GO:0016020)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 ctgtaatcctggcactttggg 0.453 NA G||| 2 0.000399361 0 0 5008 , , NA 15190 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB095938 CCDS43133.1 3q13.2 2014-01-02 ENSG00000176542 ENSG00000176542 205717 30494 protein-coding gene gene with protein product NA Standard NM_001009899 XM_005247208 NA Approved uc003eam.3 Q68DE3 OTTHUMG00000159322 ENST00000491165.1:c.257-3504C>T chr3.hg19:g.113372201G>A NA Q7Z3L9|Q8IVF3|Q9H8T4 hg19 0.02 4.380675 CCTxGCA COVERED NOVEL KIAA2018-002 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000354588.2 19 5.623295 KEEP 3 3 95 52 1837 GG 1 1 0 - 9 60 266 0 1 16.46308 129 60 4406 308 ENST00000491165.1 0.065217 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 113433349 113433349 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:113433349C>T NA NA KIAA2018 (17856 upstream) : NAA50 (1957 downstream) NA NA NA agtgctgggactacaggcgtg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.113433349C>T NA hg19 0.02 -0.131587 GGAxTAC COVERED NOVEL 0 0 2.707614 KEEP 1 0 0 9 323 CC 0.99254 0.227464 0 3 60 92 0 0 7.372086 12 60 415 41 0.2 0.229173 ATP6V1A 523 __UNKNOWN__ __UNKNOWN__ 3 113493489 113493489 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:113493489T>C ENST00000273398.3 + 2 95 ATP6V1A_ENST00000538620.1_Intron NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180) ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133) ggtgaaaccctatctctacta 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L09235 CCDS2976.1 3q13.31 2010-04-21 2002-08-29 2003-04-25 ENSG00000114573 ENSG00000114573 523 3.6.3.14 ATPases / V-type 851 protein-coding gene gene with protein product 607027 ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1 VPP2, ATP6A1, ATP6V1A1 NA 8463241 Standard NM_001690 NM_001690 NA Approved Vma1, VA68 uc003eao.3 P38606 OTTHUMG00000159295 ENST00000273398.3:c.-13-4099T>C chr3.hg19:g.113493489T>C NA B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3 hg19 CCDS2976.1 0.02 -0.14029 CCCxATC COVERED NOVEL ATP6V1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354457.1 4 2.708318 KEEP 1 0 0 9 284 TT 0.99254 0.259018 0 + 3 60 82 1 0 6.373317 12 60 336 33 ENST00000273398.3 0.2 0.260965 ZBTB20 26137 __UNKNOWN__ __UNKNOWN__ 3 114091464 114091464 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:114091464T>C ENST00000462705.1 - 10 802 ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Intron|ZBTB20_ENST00000471418.1_Intron|ZBTB20_ENST00000481632.1_Intron|ZBTB20_ENST00000474710.1_Intron|ZBTB20_ENST00000357258.3_Intron|ZBTB20-AS1_ENST00000460210.1_RNA|ZBTB20_ENST00000393785.2_Intron NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ttgcttgagctcaggattcga 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(69;748 1344 9802 11203 30933) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139460 CCDS2981.1, CCDS54626.1 3q13.2 2013-01-08 2004-07-16 2004-07-16 ENSG00000181722 ENSG00000181722 26137 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 13503 protein-coding gene gene with protein product 606025 zinc finger protein 288 ZNF288 NA 10965110, 11352661 Standard NM_015642 XM_005247339 NA Approved ODA-8S, DKFZp566F123, DPZF uc003ebi.3 Q9HC78 OTTHUMG00000159366 ENST00000462705.1:c.19+7599A>G chr3.hg19:g.114091464T>C NA Q63HP6|Q8N6R5|Q9Y410 hg19 CCDS2981.1 0.02 -0.263117 AGCxCAG COVERED NOVEL ZBTB20-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354954.1 4 2.707682 KEEP 0 0 0 9 287 TT 0.99254 0.688494 0 - 4 60 128 0 1 9.594958 26 60 780 53 ENST00000462705.1 0.133333 0.693668 ZBTB20 26137 __UNKNOWN__ __UNKNOWN__ 3 114607011 114607011 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:114607011A>T ENST00000462705.1 - 3 247 ZBTB20_ENST00000488663.1_Intron|ZBTB20_ENST00000357258.3_Intron NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) acgcctgtaaatccagcactt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(69;748 1344 9802 11203 30933) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139460 CCDS2981.1, CCDS54626.1 3q13.2 2013-01-08 2004-07-16 2004-07-16 ENSG00000181722 ENSG00000181722 26137 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 13503 protein-coding gene gene with protein product 606025 zinc finger protein 288 ZNF288 NA 10965110, 11352661 Standard NM_015642 XM_005247339 NA Approved ODA-8S, DKFZp566F123, DPZF uc003ebi.3 Q9HC78 OTTHUMG00000159366 ENST00000462705.1:c.574+12139T>A chr3.hg19:g.114607011A>T NA Q63HP6|Q8N6R5|Q9Y410 hg19 CCDS2981.1 0.02 -0.43849 TAAxTCC COVERED NOVEL ZBTB20-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354954.1 15 3.912414 KEEP 0 0 0 13 434 AA 0.994391 0.954475 0 - 4 60 110 0 0 7.095357 40 60 1179 88 ENST00000462705.1 0.090909 0.959859 ZBTB20 26137 __UNKNOWN__ __UNKNOWN__ 3 114656667 114656667 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:114656667G>A ENST00000462705.1 - 2 208 ZBTB20_ENST00000488663.1_Intron|ZBTB20_ENST00000357258.3_Intron NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) gttcctggccgggcacggtgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(69;748 1344 9802 11203 30933) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139460 CCDS2981.1, CCDS54626.1 3q13.2 2013-01-08 2004-07-16 2004-07-16 ENSG00000181722 ENSG00000181722 26137 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 13503 protein-coding gene gene with protein product 606025 zinc finger protein 288 ZNF288 NA 10965110, 11352661 Standard NM_015642 XM_005247339 NA Approved ODA-8S, DKFZp566F123, DPZF uc003ebi.3 Q9HC78 OTTHUMG00000159366 ENST00000462705.1:c.613+36545C>T chr3.hg19:g.114656667G>A NA Q63HP6|Q8N6R5|Q9Y410 hg19 CCDS2981.1 0.02 -0.28948 GCCxGGC COVERED NOVEL ZBTB20-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354954.1 5 2.708538 KEEP 2 0 0 9 298 GG 0.99257 0.755234 0 - 3 60 93 0 0 6.49833 27 60 894 63 ENST00000462705.1 0.1 0.760887 ARHGAP31 57514 __UNKNOWN__ __UNKNOWN__ 3 119136362 119136362 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:119136362A>G ENST00000264245.4 + 0 6118 NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027) GTPase activator activity (GO:0005096) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 ggaggctgagatgggtggatt 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(7;176 297 5394 51128 51241) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43135.1 3q13.33 2011-06-29 ENSG00000031081 ENSG00000031081 57514 Rho GTPase activating proteins 29216 protein-coding gene gene with protein product 610911 NA 9786927, 12819203, 16519628 Standard NM_020754 NA Approved CDGAP uc003ecj.4 Q2M1Z3 OTTHUMG00000159362 ENST00000264245.4:c.*1251A>G chr3.hg19:g.119136362A>G NA Q9ULL6 hg19 CCDS43135.1 0.02 1.572951 GAGxTGG COVERED NOVEL ARHGAP31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354942.2 13 4.249025 KEEP 0 1 37 27 876 AA 0.999997 0.999892 0 + 4 60 131 0 0 8.010636 81 60 2418 141 ENST00000264245.4 0.047059 0.999895 LRRC58 116064 __UNKNOWN__ __UNKNOWN__ 3 120053082 120053082 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:120053082T>C ENST00000295628.3 - 3 1003 NM_001099678.1 NP_001093148.1 Q96CX6 LRC58_HUMAN leucine rich repeat containing 58 NA NA large_intestine(2)|lung(5) 7 GBM - Glioblastoma multiforme(114;0.147) ccgggcgtggtggctcacgcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC013757 CCDS46892.1 3q13.33 2006-01-06 ENSG00000163428 ENSG00000163428 116064 26968 protein-coding gene gene with protein product NA Standard XM_057296 NM_001099678 NA Approved uc003edr.2 Q96CX6 OTTHUMG00000159407 ENST00000295628.3:c.907+626A>G chr3.hg19:g.120053082T>C NA hg19 CCDS46892.1 0.02 1.742332 TGGxGGC COVERED NOVEL LRRC58-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355142.1 10 3.001807 KEEP 5 0 0 10 269 TT 0.99254 0.956584 0 - 4 36 123 0 0 8.236407 44 60 1269 93 ENST00000295628.3 0.083333 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 120526655 120526655 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:120526655A>G NA NA GTF2E1 (24739 upstream) : RP11-500K19.1 (25631 downstream) NA NA NA gaagaagaagaagaagaagaa 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.120526655A>G NA hg19 0.02 -0.377135 AAGxAGA COVERED NOVEL 0 8 4.51222 KEEP 5 0 0 15 450 AA 0.994391 0.90397 0 3 40 102 0 0 6.972656 38 60 1128 75 0.073171 0.909069 HCLS1 3059 __UNKNOWN__ __UNKNOWN__ 3 121366120 121366120 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:121366120A>G ENST00000314583.3 - 4 380 HCLS1_ENST00000428394.2_Intron NM_005335.4 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 NA NA actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725) cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) gagccaccgcacccggcTTGT 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 67 71 70 NA NA NA 3 NA NA 121366120 2203 4300 6503 SO:0001627 intron_variant CCDS3003.1 3q13 2007-08-03 ENSG00000180353 ENSG00000180353 3059 4844 protein-coding gene gene with protein product cortactin-like 601306 NA 8978766, 15710041 Standard NM_005335 NM_001292041 NA Approved HS1, CTTNL uc003eeh.4 P14317 OTTHUMG00000159409 ENST00000314583.3:c.288+45T>C chr3.hg19:g.121366120A>G NA B4DQ69|Q53Y93|Q6IBK9|Q9UDK0 hg19 CCDS3003.1 0.02 3.619529 CGCxCCC COVERED NOVEL HCLS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355144.1 10 13.606845 KEEP 0 2 65 68 2085 AA 1 1 0 - 5 60 166 0 0 10.0054 113 60 3338 266 ENST00000314583.3 0.042373 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 122605658 122605658 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:122605658T>C NA NA DIRC2 (5672 upstream) : RP11-67L2.2 (129 downstream) NA NA NA GTctctgtcatccaggctgga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.122605658T>C NA hg19 0.02 5.610241 TCAxCCA COVERED NOVEL 0 19 5.650473 KEEP 0 1 35 31 951 TT 0.999997 0.999997 0 11 60 372 0 0 25.183367 145 60 4372 278 0.070513 1 PDIA5 10954 __UNKNOWN__ __UNKNOWN__ 3 122861982 122861982 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:122861982T>C ENST00000316218.7 + 12 1005 NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756) breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) acctgtaatctcagcactttg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK054963 CCDS3020.1 3q21.1 2009-11-20 2005-06-29 ENSG00000065485 ENSG00000065485 10954 5.3.4.1 Protein disulfide isomerases 24811 protein-coding gene gene with protein product protein disulfide isomerase-associated 5 NA 7556671 Standard NM_006810 NM_006810 NA Approved PDIR, FLJ30401 uc003egc.2 Q14554 OTTHUMG00000159558 ENST00000316218.7:c.911-2387T>C chr3.hg19:g.122861982T>C NA D3DN95|Q9BV43 hg19 CCDS3020.1 0.02 -0.403486 ATCxCAG COVERED NOVEL PDIA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356192.1 10 2.407553 KEEP 1 0 0 8 261 TT 0.99257 0.927549 0 + 3 60 102 0 0 7.111469 34 60 1037 83 ENST00000316218.7 0.081081 0.934492 SEC22A 26984 __UNKNOWN__ __UNKNOWN__ 3 122927545 122927545 __UNKNOWN__ 5'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:122927545T>C ENST00000309934.4 + 0 377 SEC22A_ENST00000477063.1_Intron|SEC22A_ENST00000492595.1_Intron|SEC22A_ENST00000481965.2_Intron NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transporter activity (GO:0005215) NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) ccagcctgggtgacagagcaa 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF100749 CCDS3021.1 3q21.1 2006-04-25 2006-04-25 2006-04-25 ENSG00000121542 ENSG00000121542 26984 20260 protein-coding gene gene with protein product 612442 SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) SEC22L2 NA 9094723, 9501016 Standard NM_012430 NM_012430 NA Approved uc003ege.3 Q96IW7 OTTHUMG00000159495 ENST00000309934.4:c.-520T>C chr3.hg19:g.122927545T>C NA B2RE26|Q9Y682 hg19 CCDS3021.1 0.02 1.546996 GGGxGAC COVERED NOVEL SEC22A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355770.2 17 6.904772 KEEP 0 0 0 23 643 TT 0.999909 0.999839 0 + 4 60 139 0 0 8.808405 81 60 2296 174 ENST00000309934.4 0.047059 0.99993 SEC22A 26984 __UNKNOWN__ __UNKNOWN__ 3 122992633 122992633 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:122992633C>G ENST00000309934.4 + 0 3884 NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transporter activity (GO:0005215) NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) tccagcctggccaacagagcg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF100749 CCDS3021.1 3q21.1 2006-04-25 2006-04-25 2006-04-25 ENSG00000121542 ENSG00000121542 26984 20260 protein-coding gene gene with protein product 612442 SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) SEC22L2 NA 9094723, 9501016 Standard NM_012430 NM_012430 NA Approved uc003ege.3 Q96IW7 OTTHUMG00000159495 ENST00000309934.4:c.*2064C>G chr3.hg19:g.122992633C>G NA B2RE26|Q9Y682 hg19 CCDS3021.1 0.02 1.754638 TGGxCAA COVERED NOVEL SEC22A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355770.2 10 3.912733 KEEP 0 0 0 13 459 CC 0.994391 0.986529 0 + 4 60 135 1 0 9.469551 43 70 1463 105 ENST00000309934.4 0.085106 0.992094 ADCY5 111 __UNKNOWN__ __UNKNOWN__ 3 123022789 123022789 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:123022789C>A ENST00000491190.1 - 14 1996 ADCY5_ENST00000462833.1_Intron|ADCY5_ENST00000309879.5_Intron O95622 ADCY5_HUMAN adenylate cyclase 5 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) ATCCCAGACCCAGGTGCGAAA 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U65473 CCDS3022.1, CCDS56274.1 3q21.1 2013-02-04 ENSG00000173175 ENSG00000173175 111 4.6.1.1 Adenylate cyclases 236 protein-coding gene gene with protein product 600293 NA 10481931 Standard XM_171048 NM_183357 NA Approved AC5 uc003egh.2 O95622 OTTHUMG00000159517 ENST00000491190.1:c.1458+124G>T chr3.hg19:g.123022789C>A NA B7Z8A6|Q7RTV7|Q8NFM3 hg19 0.02 1.298581 ACCxAGG COVERED NOVEL ADCY5-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000355890.1 1 6.621316 KEEP 0 0 0 22 761 CC 0.999879 0.998989 0 - 18 70 523 0 0 42.485722 61 70 2016 122 ENST00000491190.1 0.227848 0.99911 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123334753 123334753 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:123334753T>C ENST00000578202.1 - 3 437 MYLK_ENST00000418370.2_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Intron|MYLK_ENST00000583087.1_Intron|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000475616.1_Intron|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000354792.5_Intron|MYLK-AS1_ENST00000485162.1_RNA NM_053031.2 NP_444259.1 Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) gccttggccttccaaagtgtt 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000578202.1:c.218-1557A>G chr3.hg19:g.123334753T>C NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS58849.1 0.02 -0.324521 CCTxCCA COVERED NOVEL MYLK-019 NOVEL NAGNAG_splice_site|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000444083.1 17 3.008938 KEEP 1 0 0 10 309 TT 0.992708 0.829622 0 - 5 60 159 0 0 12.054805 30 60 920 63 ENST00000578202.1 0.142857 0.835716 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123375912 123375912 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:123375912C>T ENST00000475616.1 - 21 4288 MYLK_ENST00000354792.5_Intron|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360304.3_Intron Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACAGTCTTTACATACACAAGG 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000475616.1:c.4288+60G>A chr3.hg19:g.123375912C>T NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS46896.1 0.02 1.267352 TTAxATA COVERED NOVEL MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356464.1 1 6.320161 KEEP 0 0 0 21 723 CC 0.999869 0.987814 0 - 15 60 416 0 0 34.106587 45 60 1455 98 ENST00000475616.1 0.25 0.987943 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123386197 123386197 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:123386197T>C ENST00000475616.1 - 18 3652 MYLK_ENST00000354792.5_Intron|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360304.3_Intron|MYLK_ENST00000510775.1_Intron Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) acctgtaatctcagcactttg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000475616.1:c.3653-163A>G chr3.hg19:g.123386197T>C NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS46896.1 0.02 3.563726 ATCxCAG COVERED NOVEL MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356464.1 7 9.959033 KEEP 0 3 79 61 1981 TT 1 1 0 - 8 60 252 1 1 16.4239 107 60 3250 221 ENST00000475616.1 0.069565 1 HEG1 57493 __UNKNOWN__ __UNKNOWN__ 3 124713892 124713892 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:124713892T>C ENST00000311127.4 - 12 3720 NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 NA NA cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281) cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 cctgtaatcctagcactttgg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074987 CCDS46898.1 3q21.2 2013-03-08 2013-03-08 ENSG00000173706 ENSG00000173706 57493 29227 protein-coding gene gene with protein product heart of glass 614182 HEG homolog 1 (zebrafish) NA 10574462, 19151727, 23007647 Standard XM_087386 NM_020733 NA Approved KIAA1237, HEG uc003ehs.4 Q9ULI3 OTTHUMG00000159486 ENST00000311127.4:c.3652+2640A>G chr3.hg19:g.124713892T>C NA Q6NX66|Q8NC40|Q9BSV0 hg19 CCDS46898.1 0.02 1.89747 TCCxAGC COVERED NOVEL HEG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355732.2 7 3.308681 KEEP 1 0 0 11 331 TT 0.993072 0.972741 0 - 5 60 174 0 0 12.77527 44 60 1273 95 ENST00000311127.4 0.102041 0.979526 ZNF148 7707 __UNKNOWN__ __UNKNOWN__ 3 125059568 125059568 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:125059568T>C ENST00000360647.4 - 2 253 ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Intron|ZNF148_ENST00000492394.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 NA NA cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976) breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 cggtggctcatgcctgtaatc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U09851 CCDS3031.1 3q21.2 2013-01-08 2006-06-13 ENSG00000163848 ENSG00000163848 7707 Zinc fingers, C2H2-type 12933 protein-coding gene gene with protein product 601897 zinc finger protein 148 (pHZ-52) NA 7557990, 9925940 Standard NM_021964 NM_021964 NA Approved BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52 uc003ehx.4 Q9UQR1 OTTHUMG00000159448 ENST00000360647.4:c.233-9486A>G chr3.hg19:g.125059568T>C NA D3DN27|O00389|O43591|Q58EY5|Q6PJ98 hg19 CCDS3031.1 0.02 -0.420915 TCAxGCC UNCOVERED NOVEL ZNF148-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355452.4 7 2.407136 KEEP 6 0 0 8 251 TT 0 0 0 - 3 60 103 0 0 6.947043 42 60 1230 93 ENST00000360647.4 0.066667 0.948402 SNX4 8723 __UNKNOWN__ __UNKNOWN__ 3 125210688 125210688 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:125210688T>C ENST00000251775.4 - 6 622 SNX4_ENST00000473417.1_Intron|SNX4_ENST00000536067.1_Intron NM_003794.2 NP_003785.1 O95219 SNX4_HUMAN sorting nexin 4 NA NA endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031) cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234) epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459) breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1) 11 cacggtggcttatgcctgtaa 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF065485 CCDS3032.1 3q21.2 2014-02-12 ENSG00000114520 ENSG00000114520 8723 Sorting nexins 11175 protein-coding gene gene with protein product 605931 NA 9819414 Standard NM_003794 NM_003794 NA Approved ATG24B uc003eib.4 O95219 OTTHUMG00000159575 ENST00000251775.4:c.598-2381A>G chr3.hg19:g.125210688T>C NA B3KMH0|B4DQV4|D3DNA3 hg19 CCDS3032.1 0.02 -0.184111 GCTxATG UNCOVERED NOVEL SNX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356299.1 3 2.406905 KEEP 2 0 0 8 244 TT 0 0 0 - 4 60 132 0 0 11.082353 13 60 336 42 ENST00000251775.4 0.235294 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 125609259 125609259 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:125609259A>G NA NA RP11-379B18.5 (3081 upstream) : RP11-666A20.4 (17588 downstream) NA NA NA atggagtctcactctgtcacc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.125609259A>G NA hg19 0.02 1.664541 CTCxCTC COVERED NOVEL 0 18 2.707421 KEEP 1 0 0 9 260 AA 0.99254 0.992471 0 4 60 134 0 0 8.311012 81 60 2206 156 0.047059 0.99993 MGLL 11343 __UNKNOWN__ __UNKNOWN__ 3 127525608 127525608 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:127525608A>G ENST00000434178.2 - 2 1022 MGLL_ENST00000398104.1_Intron|MGLL_ENST00000265052.5_Intron|MGLL_ENST00000453507.2_Intron Q99685 MGLL_HUMAN monoglyceride lipase NA NA acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433) endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202) acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 ggtggctcacacctgtaatcc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000551 CCDS43148.1, CCDS46902.1, CCDS58852.1 3p13-q13.33 2014-03-14 ENSG00000074416 ENSG00000074416 11343 3.1.1.23 17038 protein-coding gene gene with protein product 609699 NA 9495531 Standard NM_007283 NM_007283 NA Approved HU-K5, MGL uc003ejx.4 Q99685 OTTHUMG00000159641 ENST00000434178.2:c.125+14928T>C chr3.hg19:g.127525608A>G NA B3KRC2|B7Z9D1|Q6IBG9|Q96AA5 hg19 CCDS43148.1 0.02 -0.271892 CACxCCT COVERED NOVEL MGLL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356637.2 12 2.704167 KEEP 2 0 0 9 257 AA 0.99254 0.711964 0 - 3 60 99 0 0 7.192644 25 60 750 58 ENST00000434178.2 0.107143 0.717315 RUVBL1 8607 __UNKNOWN__ __UNKNOWN__ 3 127853422 127853422 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:127853422A>G ENST00000464873.1 - 2 712 Q9Y265 RUVB1_HUMAN RuvB-like AAA ATPase 1 NA NA CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812) ATP binding (GO:0005524)|DNA helicase activity (GO:0003678) endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) gtgaagccagaagttcgagac 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF070735 CCDS3047.1 3q21 2013-09-12 2013-09-12 ENSG00000175792 ENSG00000175792 8607 INO80 complex subunits, ATPases / AAA-type 10474 protein-coding gene gene with protein product pontin, INO80 complex subunit H 603449 RuvB (E coli homolog)-like 1, RuvB-like 1 (E. coli), RuvB-like AAA ATPase NA 9774387, 9588198 Standard NM_003707 NA Approved TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H uc003ekh.3 Q9Y265 OTTHUMG00000159658 ENST00000464873.1:c.39-15165T>C chr3.hg19:g.127853422A>G NA B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9 hg19 0.02 -0.298192 CAGxAGT COVERED NOVEL RUVBL1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356729.2 6 2.407559 KEEP 0 0 0 8 261 AA 0.99257 0.775257 0 - 3 60 99 0 0 7.05298 28 60 826 65 ENST00000464873.1 0.096774 0.78106 EEFSEC 60678 __UNKNOWN__ __UNKNOWN__ 3 127919411 127919411 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:127919411A>G ENST00000254730.6 + 2 370 EEFSEC_ENST00000483457.1_Intron NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific NA NA selenocysteine incorporation (GO:0001514) mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049) NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 gattacaggcatgagccaccg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33849.1 3q21.3 2007-05-25 ENSG00000132394 ENSG00000132394 60678 24614 protein-coding gene gene with protein product elongation factor for selenoprotein translation 607695 NA 10970870, 15229221 Standard NM_021937 XM_005247696 NA Approved SELB, EFSEC uc003eki.3 P57772 OTTHUMG00000159659 ENST00000254730.6:c.317-46268A>G chr3.hg19:g.127919411A>G NA Q96HZ6 hg19 CCDS33849.1 0.02 -0.403453 GGCxTGA COVERED NOVEL EEFSEC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356738.2 5 2.407393 KEEP 3 0 0 8 253 AA 0.99257 0.927549 0 + 5 60 166 0 0 12.330054 37 60 1101 85 ENST00000254730.6 0.119048 0.934492 RAB7A 7879 __UNKNOWN__ __UNKNOWN__ 3 128488970 128488970 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:128488970T>C ENST00000482525.1 + 2 167 RAB7A_ENST00000265062.3_Intron P51149 RAB7A_HUMAN RAB7A, member RAS oncogene family NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(114;0.231) ctcagcctcctgagtagctgg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X93499 CCDS3052.1 3q21 2014-09-17 2007-01-15 2007-01-15 ENSG00000075785 ENSG00000075785 7879 RAB, member RAS oncogene 9788 protein-coding gene gene with protein product 602298 RAB7, member RAS oncogene family RAB7 NA 9126495, 9428630 Standard NM_004637 NA Approved uc003eks.1 P51149 OTTHUMG00000159812 ENST00000482525.1:c.-8-25233T>C chr3.hg19:g.128488970T>C NA A8K3V6|Q9NWJ0|Q9UPB0 hg19 0.02 -0.210484 TCCxGAG COVERED NOVEL RAB7A-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357482.1 5 2.407424 KEEP 0 0 0 8 256 TT 0.99257 0.518282 0 + 3 60 101 0 0 7.664924 20 60 599 40 ENST00000482525.1 0.130435 0.522161 RAB7A 7879 __UNKNOWN__ __UNKNOWN__ 3 128529069 128529069 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:128529069A>G ENST00000482525.1 + 5 562 RAB7A_ENST00000265062.3_Intron|RAB7A_ENST00000485280.1_Intron P51149 RAB7A_HUMAN RAB7A, member RAS oncogene family NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(114;0.231) ggttacaggcatgagccaccg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X93499 CCDS3052.1 3q21 2014-09-17 2007-01-15 2007-01-15 ENSG00000075785 ENSG00000075785 7879 RAB, member RAS oncogene 9788 protein-coding gene gene with protein product 602298 RAB7, member RAS oncogene family RAB7 NA 9126495, 9428630 Standard NM_004637 NA Approved uc003eks.1 P51149 OTTHUMG00000159812 ENST00000482525.1:c.387+2555A>G chr3.hg19:g.128529069A>G NA A8K3V6|Q9NWJ0|Q9UPB0 hg19 0.02 -0.37711 GGCxTGA COVERED NOVEL RAB7A-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357482.1 4 2.406942 KEEP 2 0 0 8 243 AA 0.99257 0.902315 0 + 5 60 163 0 0 12.453944 30 60 878 84 ENST00000482525.1 0.142857 0.909069 KIAA1257 57501 __UNKNOWN__ __UNKNOWN__ 3 128688225 128688225 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:128688225G>A ENST00000265068.5 - 0 3240 KIAA1257_ENST00000511438.1_Intron|RP11-723O4.6_ENST00000508239.1_5'UTR NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 NA NA breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 gaccagcctggccaaaattgt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033083 CCDS46905.1 3q21.3 2011-11-07 ENSG00000114656 ENSG00000114656 57501 29231 protein-coding gene gene with protein product NA 10574462 Standard NM_020741 NM_020741 NA Approved uc003elj.4 Q9ULG3 OTTHUMG00000159946 ENST00000265068.5:c.*1843C>T chr3.hg19:g.128688225G>A NA Q8IXY7|Q8N5T4 hg19 CCDS46905.1 0.02 2.367696 CTGxCCA COVERED NOVEL KIAA1257-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000358430.1 28 3.546514 KEEP 0 2 60 33 1166 GG 0.999999 0.999998 0 - 6 60 171 0 0 9.407408 125 60 4275 254 ENST00000265068.5 0.045802 1 ISY1 57461 __UNKNOWN__ __UNKNOWN__ 3 128856021 128856021 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:128856021A>G ENST00000393292.3 - 8 480 ISY1-RAB43_ENST00000418265.1_Intron|ISY1_ENST00000273541.8_Missense_Mutation_p.M146T|ISY1_ENST00000393295.3_Intron|ISY1_ENST00000471497.1_Intron Q9ULR0 ISY1_HUMAN ISY1 splicing factor homolog (S. cerevisiae) NA NA mRNA splicing, via spliceosome (GO:0000398) catalytic step 2 spliceosome (GO:0071013) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1) 15 gattacaggcatgagccaccg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43149.1, CCDS56277.1 3q21.3 2008-11-25 ENSG00000240682 ENSG00000240682 57461 29201 protein-coding gene gene with protein product functional spliceosome-associated protein 33 612764 NA 16103217 Standard NM_020701 NM_020701 NA Approved KIAA1160, fSAP33 Q9ULR0 OTTHUMG00000137365 ENST00000393292.3:c.419-2224T>C chr3.hg19:g.128856021A>G NA Q96IL2|Q9BT05 hg19 0.02 3.481793 GGCxTGA COVERED . . . . . . . . . . A 0.001 -4.176963 0.00001 . . ENSG00000240682 ENST00000273541 T 0.28255 1.62 . . . . . . . . T 0.11879 0.0289 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.29243 -1.0018 6 0.14656 T 0.56 . . . . . 146 Q9ULR0-2 . T 146 ENSP00000273541:M146T ENSP00000273541:M146T M - 2 0 ISY1 130338711 0.021000 0.18746 0.064000 0.19789 0.103000 0.19146 -1.359000 0.02602 -1.555000 0.01697 -1.550000 0.00899 ATG NOVEL ISY1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000267857.3 20 4.746707 KEEP 3 1 26 25 794 AA 0.999957 0.999956 0 - 6 60 196 0 0 12.240339 109 60 3206 218 ENST00000393292.3 0.052174 1 ISY1 57461 __UNKNOWN__ __UNKNOWN__ 3 128874289 128874289 __UNKNOWN__ Intron SNP G G A rs142964996 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:128874289G>A ENST00000393292.3 - 5 249 ISY1-RAB43_ENST00000418265.1_Intron|ISY1_ENST00000273541.8_Intron|ISY1_ENST00000393295.3_Intron|ISY1_ENST00000471497.1_Intron Q9ULR0 ISY1_HUMAN ISY1 splicing factor homolog (S. cerevisiae) NA NA mRNA splicing, via spliceosome (GO:0000398) catalytic step 2 spliceosome (GO:0071013) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1) 15 cacccgcctcggcctcccaaa 0.468 NA G||| 3 0.000599042 8e-04 0 5008 , , NA 15174 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43149.1, CCDS56277.1 3q21.3 2008-11-25 ENSG00000240682 ENSG00000240682 57461 29201 protein-coding gene gene with protein product functional spliceosome-associated protein 33 612764 NA 16103217 Standard NM_020701 NM_020701 NA Approved KIAA1160, fSAP33 Q9ULR0 OTTHUMG00000137365 ENST00000393292.3:c.187+1186C>T chr3.hg19:g.128874289G>A NA Q96IL2|Q9BT05 hg19 0.02 -0.245596 CTCxGCC COVERED NOVEL ISY1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000267857.3 8 2.708359 KEEP 2 0 0 9 302 GG 0.99254 0.636563 0 - 5 60 147 1 0 11.381837 23 60 755 59 ENST00000393292.3 0.178571 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 128913088 128913088 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:128913088T>C NA NA CNBP (10323 upstream) : COPG1 (55360 downstream) NA NA NA cctttaatcctagcactttgg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.128913088T>C NA hg19 0.02 -0.342029 TCCxAGC COVERED NOVEL 0 6 2.407226 KEEP 0 0 0 8 246 TT 0.99257 0.859313 0 4 60 127 0 0 9.375389 28 60 807 69 0.125 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 128913166 128913166 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:128913166T>C NA NA CNBP (10401 upstream) : COPG1 (55282 downstream) NA NA NA ggtgaaaccctgtctctacta 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.128913166T>C NA hg19 0.02 -0.368343 CCCxGTC COVERED NOVEL 0 8 2.406885 KEEP 0 0 0 8 249 TT 0.99257 0.892632 0 3 60 96 0 0 6.512998 34 60 1009 63 0.081081 0.899314 TMCC1 23023 __UNKNOWN__ __UNKNOWN__ 3 129392460 129392460 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:129392460A>G ENST00000432054.2 - 2 556 TMCC1_ENST00000393238.3_Intron|TMCC1_ENST00000426664.2_Intron|TMCC1_ENST00000329333.5_Intron O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 ttgggaggccaaggcgggagg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018322 CCDS33855.1 3q21.3 2010-04-19 2005-07-13 ENSG00000172765 ENSG00000172765 23023 Transmembrane and coiled-coil domain containing 29116 protein-coding gene gene with protein product transmembrane and coiled-coil domains 1 NA 9872452 Standard NM_015008 NR_033361 NA Approved KIAA0779 uc021xdy.1 O94876 OTTHUMG00000159579 ENST00000432054.2:c.396-2353T>C chr3.hg19:g.129392460A>G NA A8K5Y3|B4DE04|Q68E06|Q8IXM8 hg19 0.02 -0.385323 GCCxAGG COVERED NOVEL TMCC1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356323.4 15 2.407377 KEEP 1 0 0 8 252 AA 0.99257 0.911349 0 - 3 60 100 0 0 6.775156 38 60 1098 77 ENST00000432054.2 0.073171 0.918171 TMCC1 23023 __UNKNOWN__ __UNKNOWN__ 3 129410361 129410361 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:129410361T>C ENST00000393238.3 - 4 917 TMCC1_ENST00000426664.2_Intron|TMCC1_ENST00000329333.5_Intron NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 tggtggctcatgcctgtaatc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018322 CCDS33855.1 3q21.3 2010-04-19 2005-07-13 ENSG00000172765 ENSG00000172765 23023 Transmembrane and coiled-coil domain containing 29116 protein-coding gene gene with protein product transmembrane and coiled-coil domains 1 NA 9872452 Standard NM_015008 NR_033361 NA Approved KIAA0779 uc021xdy.1 O94876 OTTHUMG00000159579 ENST00000393238.3:c.577-20254A>G chr3.hg19:g.129410361T>C NA A8K5Y3|B4DE04|Q68E06|Q8IXM8 hg19 CCDS33855.1 0.02 1.862419 TCAxGCC COVERED NOVEL TMCC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356418.2 14 3.008652 KEEP 0 0 0 10 300 TT 0.992708 0.980739 0 - 4 60 134 0 0 9.222457 47 60 1348 93 ENST00000393238.3 0.078431 0.987943 TMCC1 23023 __UNKNOWN__ __UNKNOWN__ 3 129520552 129520552 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:129520552T>A ENST00000393238.3 - 3 917 TMCC1_ENST00000426664.2_Intron NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 tgctgggatttcaggcgtgaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018322 CCDS33855.1 3q21.3 2010-04-19 2005-07-13 ENSG00000172765 ENSG00000172765 23023 Transmembrane and coiled-coil domain containing 29116 protein-coding gene gene with protein product transmembrane and coiled-coil domains 1 NA 9872452 Standard NM_015008 NR_033361 NA Approved KIAA0779 uc021xdy.1 O94876 OTTHUMG00000159579 ENST00000393238.3:c.576+26093A>T chr3.hg19:g.129520552T>A NA A8K5Y3|B4DE04|Q68E06|Q8IXM8 hg19 CCDS33855.1 0.02 -0.342011 ATTxCAG COVERED NOVEL TMCC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356418.2 5 2.407264 KEEP 0 0 0 8 253 TT 0.99257 0.859313 0 - 6 60 165 0 0 12.170016 32 60 944 69 ENST00000393238.3 0.157895 0.865745 TMCC1 23023 __UNKNOWN__ __UNKNOWN__ 3 129552545 129552545 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:129552545T>C ENST00000393238.3 - 2 158 TMCC1_ENST00000426664.2_Intron NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 taagaccagcttgggcaacac 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018322 CCDS33855.1 3q21.3 2010-04-19 2005-07-13 ENSG00000172765 ENSG00000172765 23023 Transmembrane and coiled-coil domain containing 29116 protein-coding gene gene with protein product transmembrane and coiled-coil domains 1 NA 9872452 Standard NM_015008 NR_033361 NA Approved KIAA0779 uc021xdy.1 O94876 OTTHUMG00000159579 ENST00000393238.3:c.183-876A>G chr3.hg19:g.129552545T>C NA A8K5Y3|B4DE04|Q68E06|Q8IXM8 hg19 CCDS33855.1 0.02 -0.429747 AGCxTGG COVERED NOVEL TMCC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356418.2 10 2.407557 KEEP 0 0 0 8 262 TT 0.99257 0.9474 0 - 3 60 104 0 0 7.077282 41 60 1226 84 ENST00000393238.3 0.068182 0.954491 COL6A4P2 646300 __UNKNOWN__ __UNKNOWN__ 3 129943356 129943356 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:129943356A>G ENST00000507516.3 + 0 238 collagen, type VI, alpha 4 pseudogene 2 NA NA NA ttgggaggccaaggcaggcag 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BF593933 3q22.1 2014-02-12 2010-05-24 ENSG00000228252 ENSG00000228252 646300 Collagens 38501 pseudogene pseudogene collagen, type VI, alpha 4 NA Standard NR_027898 NR_027898 NA Approved COL6A4 uc011blf.2 OTTHUMG00000154984 ENST00000507516.3: chr3.hg19:g.129943356A>G NA hg19 0.02 -0.350809 GCCxAGG COVERED NOVEL COL6A4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000337963.3 14 2.706447 KEEP 6 0 0 9 268 AA 0.99257 0.871187 0 + 3 60 95 0 0 6.34283 36 60 1062 79 ENST00000507516.3 0.076923 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 130466391 130466391 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:130466391T>C NA NA PIK3R4 (718 upstream) : RN7SKP212 (64220 downstream) NA NA NA tcccaaagtgttgggattaca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.130466391T>C NA hg19 0.02 -0.271645 GTGxTGG COVERED NOVEL 0 5 2.406223 KEEP 0 0 0 8 227 TT 0.99257 0.711986 0 3 60 96 0 0 6.995818 23 60 632 55 0.115385 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 130556759 130556759 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:130556759A>G NA NA RN7SKP212 (25820 upstream) : ATP2C1 (12679 downstream) NA NA NA ggtggctcacacctgtaatcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.130556759A>G NA hg19 0.02 -0.420869 CACxCCT COVERED NOVEL 0 15 3.309367 KEEP 1 0 0 11 331 AA 0.993072 0.947879 0 4 60 133 0 0 9.432922 39 60 1136 89 0.093023 0.954491 ATP2C1 27032 __UNKNOWN__ __UNKNOWN__ 3 130646334 130646334 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:130646334T>C ENST00000510168.1 + 3 556 ATP2C1_ENST00000393221.4_Intron|RP11-39E3.3_ENST00000504737.1_RNA|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000508532.1_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000428331.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000504948.1_Intron|ATP2C1_ENST00000505330.1_Intron P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 NA NA actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) aaccgcccgcttcagcctccc 0.458 NA Hailey-Hailey disease NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(99;456 1443 27647 34099 42636) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus AF181120 CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1 3q21.3 2012-10-22 ENSG00000017260 ENSG00000017260 27032 3.6.3.8 ATPases / P-type 13211 protein-coding gene gene with protein product secretory pathway Ca2+/Mn2+ ATPase 1, calcium-transporting ATPase type 2C member 1 604384 benign chronic pemphigus (Hailey-Hailey disease) BCPM NA 10615129, 10767338 Standard NM_001001486 NM_001001485 NA Approved KIAA1347, ATP2C1A, PMR1, SPCA1 uc011bli.2 P98194 OTTHUMG00000136802 ENST00000510168.1:c.7-2926T>C chr3.hg19:g.130646334T>C NA B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7 hg19 CCDS46914.1 0.02 -0.236785 CGCxTCA COVERED NOVEL ATP2C1-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356648.2 8 2.708494 KEEP 1 0 0 9 299 TT 0.99257 0.607857 0 + 4 60 143 0 0 11.594576 19 60 559 52 ENST00000510168.1 0.173913 0.612407 DNAJC13 23317 __UNKNOWN__ __UNKNOWN__ 3 132153209 132153209 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:132153209G>A ENST00000260818.6 + 2 235 DNAJC13_ENST00000486798.1_Intron NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 NA NA osteoblast differentiation (GO:0001649) extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020) breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 cagcctgggcgacagagcgag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014578 CCDS33857.1 3q22.1 2011-09-02 ENSG00000138246 ENSG00000138246 23317 Heat shock proteins / DNAJ (HSP40) 30343 protein-coding gene gene with protein product 614334 NA 12438707 Standard NM_015268 NM_015268 NA Approved RME8, KIAA0678 uc003eor.3 O75165 OTTHUMG00000159674 ENST00000260818.6:c.-13-173G>A chr3.hg19:g.132153209G>A NA Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9 hg19 CCDS33857.1 0.02 1.256974 GGCxACA COVERED NOVEL DNAJC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356807.2 3 11.433297 KEEP 0 0 0 38 1186 GG 1 0.999919 0 + 5 60 159 0 0 10.087147 78 60 2438 146 ENST00000260818.6 0.060241 0.999919 ACAD11 84129 __UNKNOWN__ __UNKNOWN__ 3 132277381 132277381 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:132277381G>T ENST00000264990.6 - 0 3748 ACAD11_ENST00000355458.3_3'UTR|ACAD11_ENST00000545291.1_3'UTR NM_032169.4 NP_115545 Q709F0 ACD11_HUMAN acyl-CoA dehydrogenase family, member 11 NA NA fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539) mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777) flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099) breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 agtctcactcggtcacccagg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC019607 CCDS3074.1 3q22.1 2010-04-30 2010-04-30 ENSG00000240303 ENSG00000240303 84129 30211 protein-coding gene gene with protein product 614288 acyl-Coenzyme A dehydrogenase family, member 11 NA Standard NM_032169 NM_032169 NA Approved FLJ12592 Q709F0 OTTHUMG00000159780 ENST00000264990.6:c.*434C>A chr3.hg19:g.132277381G>T NA Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3 hg19 CCDS3074.1 0.02 1.438485 CTCxGTC COVERED NOVEL ACAD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357279.2 10 5.717603 KEEP 0 0 0 19 621 GG 0.99986 0.991955 0 - 5 60 152 0 1 10.273358 51 60 1649 103 ENST00000264990.6 0.089286 0.992094 ACAD11 84129 __UNKNOWN__ __UNKNOWN__ 3 132277478 132277478 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:132277478A>G ENST00000264990.6 - 0 3651 ACAD11_ENST00000355458.3_3'UTR|ACAD11_ENST00000545291.1_3'UTR NM_032169.4 NP_115545 Q709F0 ACD11_HUMAN acyl-CoA dehydrogenase family, member 11 NA NA fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539) mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777) flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099) breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 ccaagtagctaggactacaag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC019607 CCDS3074.1 3q22.1 2010-04-30 2010-04-30 ENSG00000240303 ENSG00000240303 84129 30211 protein-coding gene gene with protein product 614288 acyl-Coenzyme A dehydrogenase family, member 11 NA Standard NM_032169 NM_032169 NA Approved FLJ12592 Q709F0 OTTHUMG00000159780 ENST00000264990.6:c.*337T>C chr3.hg19:g.132277478A>G NA Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3 hg19 CCDS3074.1 0.02 1.821826 GCTxGGA COVERED NOVEL ACAD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357279.2 12 4.348247 KEEP 0 1 36 27 842 AA 0.999997 0.998693 0 - 4 60 142 0 0 9.504959 64 60 1796 127 ENST00000264990.6 0.058824 0.998696 ACAD11 84129 __UNKNOWN__ __UNKNOWN__ 3 132277564 132277564 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:132277564C>T ENST00000264990.6 - 0 3565 ACAD11_ENST00000355458.3_3'UTR|ACAD11_ENST00000545291.1_3'UTR NM_032169.4 NP_115545 Q709F0 ACD11_HUMAN acyl-CoA dehydrogenase family, member 11 NA NA fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539) mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777) flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099) breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 caggctggtcctgaactcctg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC019607 CCDS3074.1 3q22.1 2010-04-30 2010-04-30 ENSG00000240303 ENSG00000240303 84129 30211 protein-coding gene gene with protein product 614288 acyl-Coenzyme A dehydrogenase family, member 11 NA Standard NM_032169 NM_032169 NA Approved FLJ12592 Q709F0 OTTHUMG00000159780 ENST00000264990.6:c.*251G>A chr3.hg19:g.132277564C>T NA Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3 hg19 CCDS3074.1 0.02 7.779947 GTCxTGA COVERED NOVEL ACAD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357279.2 63 34.618758 KEEP 1 3 103 151 5392 CC 1 1 0 - 14 60 414 1 0 24.542145 242 60 8311 625 ENST00000264990.6 0.054687 1 TMEM108 66000 __UNKNOWN__ __UNKNOWN__ 3 132822193 132822193 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:132822193C>T ENST00000321871.6 + 2 164 TMEM108_ENST00000393130.3_Intron|TMEM108_ENST00000514529.1_Intron NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 NA NA integral component of membrane (GO:0016021) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 aaccaaataccgcatgttctc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136578 CCDS33858.1, CCDS75012.1 3q22.1 2014-04-07 ENSG00000144868 ENSG00000144868 66000 28451 protein-coding gene gene with protein product cancer/testis antigen 124 NA 11214970 Standard NM_023943 XM_005247726 NA Approved MGC3040, CT124 uc003epi.3 Q6UXF1 OTTHUMG00000159685 ENST00000321871.6:c.-47+57329C>T chr3.hg19:g.132822193C>T NA D3DNC9|Q9BQH1|Q9BW81|Q9C0H3 hg19 CCDS33858.1 0.02 -0.394718 TACxGCA COVERED NOVEL TMEM108-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356907.2 6 3.912427 KEEP 0 0 0 13 442 CC 0.994391 0.921442 0 + 15 60 457 0 0 40.594159 29 60 948 90 ENST00000321871.6 0.340909 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 133284958 133284958 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:133284958T>C NA NA SNORA33 (14799 upstream) : CDV3 (7615 downstream) NA NA NA gctgggattattggtgtgagc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.133284958T>C NA hg19 0.02 -0.219199 TTAxTGG COVERED NOVEL 0 7 2.708221 KEEP 0 0 0 9 287 TT 0.99254 0.548763 0 3 60 93 0 0 6.993734 18 60 515 46 0.142857 0.552887 TOPBP1 11073 __UNKNOWN__ __UNKNOWN__ 3 133373806 133373806 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:133373806G>C ENST00000260810.5 - 6 874 TOPBP1_ENST00000511439.1_Intron NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212) chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 gtaatcccaggactttgggag 0.403 NA Other conserved DNA damage response genes NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(21;193 658 4424 15423 17362) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB019397 CCDS46919.1 3q22.1 2004-06-21 ENSG00000163781 ENSG00000163781 11073 17008 protein-coding gene gene with protein product 607760 NA 9461304, 9039502 Standard NM_007027 NM_007027 NA Approved KIAA0259, TOP2BP1 uc003eps.3 Q92547 OTTHUMG00000159773 ENST00000260810.5:c.742+327C>G chr3.hg19:g.133373806G>C NA B7Z7W8|Q7LGC1|Q9UEB9 hg19 CCDS46919.1 0.02 -0.219313 CAGxACT COVERED NOVEL TOPBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357254.1 5 2.708895 KEEP 0 0 0 9 321 GG 0.99254 0.548763 0 - 3 60 104 0 0 8.160362 17 60 572 49 ENST00000260810.5 0.15 0.552887 EPHB1 2047 __UNKNOWN__ __UNKNOWN__ 3 134967368 134967368 __UNKNOWN__ Intron SNP G G A rs11717042 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:134967368G>A ENST00000398015.3 + 14 3060 EPHB1_ENST00000493838.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290) axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121) ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CTAGTGAAACGGTGATCCCTA 0.488 NA G||| 1406 0.280751 0.2595 0.2219 5008 , , NA 20966 0.3234 NA 0.2336 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 G 1033,3135 119,795,1170 13 16 15 NA -0.2 0 3 dbSNP_120 15 1848,6642 191,1466,2588 no intron EPHB1 NM_004441.4 310,2261,3758 AA,AG,GG NA 21.7668,24.7841,22.7603 134967368 2881,9777 2084 4245 6329 SO:0001627 intron_variant L40636 CCDS46921.1 3q21-q23 2013-02-11 2004-10-28 ENSG00000154928 2047 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3392 protein-coding gene gene with protein product 600600 EphB1 EPHT2 NA 8666391 Standard NM_004441 NM_004441 NA Approved Hek6 uc003eqt.3 P54762 ENST00000398015.3:c.2690+17G>A chr3.hg19:g.134967368G>A NA A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87 hg19 CCDS46921.1 0.02 1.306887 AACxGTG COVERED NOVEL EPHB1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357671.1 2 19.863134 KEEP 0 0 0 66 2237 GG 1 0.998993 0 + 5 60 148 0 0 9.132173 73 60 2407 200 ENST00000398015.3 0.064103 0.998993 STAG1 10274 __UNKNOWN__ __UNKNOWN__ 3 136456123 136456123 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:136456123C>T ENST00000236698.5 - 1 184 STAG1_ENST00000383202.2_Intron|STAG1_ENST00000434713.2_Intron|STAG1_ENST00000480733.1_Intron Q8WVM7 STAG1_HUMAN stromal antigen 1 NA NA chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 tttttgtattcttagtagaga 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z75330 CCDS3090.1 3q22.2-q22.3 2011-08-12 ENSG00000118007 ENSG00000118007 10274 11354 protein-coding gene gene with protein product 604358 NA 9305759 Standard NM_005862 XM_006713471 NA Approved SA-1, SCC3A uc003era.1 Q8WVM7 OTTHUMG00000159798 ENST00000236698.5:c.82+14913G>A chr3.hg19:g.136456123C>T NA O00539|Q6P275 hg19 0.02 2.82433 ATTxTTA COVERED NOVEL STAG1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357403.1 12 5.587736 KEEP 2 2 55 38 1376 CC 1 1 0 - 8 60 220 2 1 12.994214 115 60 3902 250 ENST00000236698.5 0.065041 1 IL20RB 53833 __UNKNOWN__ __UNKNOWN__ 3 136699201 136699201 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:136699201T>C ENST00000329582.4 + 2 337 IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000309741.5_5'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta NA NA homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753) integral component of membrane (GO:0016021) kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 aatctcagcttactgcaacct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC033292 CCDS3093.1 3q22.3 2013-02-11 ENSG00000174564 ENSG00000174564 53833 Interleukins and interleukin receptors, Fibronectin type III domain containing 6004 protein-coding gene gene with protein product 605621 fibronectin type III domain containing 6 FNDC6 NA 11163236, 16703417 Standard NM_144717 NM_144717 NA Approved DIRS1, IL-20R2, MGC34923 uc003eri.2 Q6UXL0 OTTHUMG00000159779 ENST00000329582.4:c.89-107T>C chr3.hg19:g.136699201T>C NA B4DL40|Q6P438|Q8IYY5|Q8TAJ7 hg19 CCDS3093.1 0.02 1.836253 GCTxACT COVERED NOVEL IL20RB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357277.2 7 6.616588 KEEP 0 0 0 22 620 TT 0.999879 0.991974 0 + 6 60 191 0 0 13.543645 53 60 1403 106 ENST00000329582.4 0.101695 0.992094 IL20RB 53833 __UNKNOWN__ __UNKNOWN__ 3 136710727 136710727 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:136710727T>C ENST00000329582.4 + 5 780 IL20RB_ENST00000309741.5_Intron NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta NA NA homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753) integral component of membrane (GO:0016021) kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 gctgggattataggcgtgagc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC033292 CCDS3093.1 3q22.3 2013-02-11 ENSG00000174564 ENSG00000174564 53833 Interleukins and interleukin receptors, Fibronectin type III domain containing 6004 protein-coding gene gene with protein product 605621 fibronectin type III domain containing 6 FNDC6 NA 11163236, 16703417 Standard NM_144717 NM_144717 NA Approved DIRS1, IL-20R2, MGC34923 uc003eri.2 Q6UXL0 OTTHUMG00000159779 ENST00000329582.4:c.532-53T>C chr3.hg19:g.136710727T>C NA B4DL40|Q6P438|Q8IYY5|Q8TAJ7 hg19 CCDS3093.1 0.02 1.669675 TTAxAGG COVERED NOVEL IL20RB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357277.2 9 11.431005 KEEP 1 0 0 38 1116 TT 1 0.999407 0 + 4 60 135 1 0 8.704311 68 60 1858 153 ENST00000329582.4 0.055556 0.999407 CLDN18 51208 __UNKNOWN__ __UNKNOWN__ 3 137751011 137751011 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:137751011T>C ENST00000183605.5 + 0 2040 CLDN18_ENST00000343735.4_3'UTR NM_016369.3 NP_057453.1 P56856 CLD18_HUMAN claudin 18 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 cctgtaatcctagcactttgg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF221069, AY102073 CCDS3095.1, CCDS33862.1 3q 2008-08-27 ENSG00000066405 ENSG00000066405 51208 Claudins 2039 protein-coding gene gene with protein product 609210 surfactant associated protein J SFTPJ NA Standard NM_001002026 NM_001002026 NA Approved uc003ero.1 P56856 OTTHUMG00000159762 ENST00000183605.5:c.*1028T>C chr3.hg19:g.137751011T>C NA A5PL21|Q96PH4 hg19 CCDS3095.1 0.02 1.546895 TCCxAGC COVERED NOVEL CLDN18-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000357199.2 6 6.95352 KEEP 1 1 34 35 1053 TT 0.999999 0.999929 0 + 6 60 172 0 0 10.540458 83 60 2309 145 ENST00000183605.5 0.067416 0.99993 DBR1 51163 __UNKNOWN__ __UNKNOWN__ 3 137880574 137880574 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:137880574C>G ENST00000260803.4 - 0 1945 DBR1_ENST00000505015.2_3'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375) nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419) NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 tgtagtcccacctacttggga 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF180919 CCDS33863.1 3q22.3 2013-05-01 2013-05-01 ENSG00000138231 ENSG00000138231 51163 15594 protein-coding gene gene with protein product 607024 debranching enzyme (S. Cerevisiae) homolog 1, debranching enzyme homolog 1 (S. cerevisiae) NA 10982890 Standard NM_016216 NA Approved uc003erv.3 Q9UK59 OTTHUMG00000159824 ENST00000260803.4:c.*157G>C chr3.hg19:g.137880574C>G NA Q96GH0|Q9NXQ6 hg19 CCDS33863.1 0.02 -0.140347 CCAxCTA COVERED NOVEL DBR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357585.1 4 3.611434 KEEP 0 0 0 12 419 CC 0.993634 0.259304 0 - 4 60 117 0 0 9.970809 10 60 331 30 ENST00000260803.4 0.285714 0.260965 CEP70 80321 __UNKNOWN__ __UNKNOWN__ 3 138218863 138218863 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:138218863A>C ENST00000481834.1 - 0 1899 CEP70_ENST00000264982.3_Intron|CEP70_ENST00000484888.1_Intron|CEP70_ENST00000542237.1_Intron|CEP70_ENST00000489254.1_Intron Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 atcctcccacatcagcctccc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF202146 CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1 3q22.3 2014-02-20 ENSG00000114107 ENSG00000114107 80321 29972 protein-coding gene gene with protein product 614310 NA 14654843 Standard NM_024491 XM_005247802 NA Approved BITE, FLJ13036 uc003esl.3 Q8NHQ1 OTTHUMG00000159891 ENST00000481834.1:c.*76T>G chr3.hg19:g.138218863A>C NA B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940 hg19 0.02 1.725412 CACxTCA COVERED NOVEL CEP70-006 KNOWN basic protein_coding NA protein_coding OTTHUMT00000358006.1 8 7.257507 KEEP 0 1 34 36 1153 AA 1 0.999768 0 - 5 60 147 0 0 8.926623 77 60 2294 165 ENST00000481834.1 0.060976 0.999768 CEP70 80321 __UNKNOWN__ __UNKNOWN__ 3 138218893 138218893 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:138218893C>T ENST00000481834.1 - 0 1869 CEP70_ENST00000264982.3_Intron|CEP70_ENST00000484888.1_Intron|CEP70_ENST00000542237.1_Intron|CEP70_ENST00000489254.1_Intron Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 ggactacaggcgtgtgccacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF202146 CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1 3q22.3 2014-02-20 ENSG00000114107 ENSG00000114107 80321 29972 protein-coding gene gene with protein product 614310 NA 14654843 Standard NM_024491 XM_005247802 NA Approved BITE, FLJ13036 uc003esl.3 Q8NHQ1 OTTHUMG00000159891 ENST00000481834.1:c.*46G>A chr3.hg19:g.138218893C>T NA B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940 hg19 0.02 2.490636 AGGxGTG COVERED NOVEL CEP70-006 KNOWN basic protein_coding NA protein_coding OTTHUMT00000358006.1 22 9.35285 KEEP 0 2 65 54 1816 CC 1 0.999999 0 - 6 60 175 2 0 10.102828 111 60 3636 259 ENST00000481834.1 0.051282 0.999999 RBP2 5948 __UNKNOWN__ __UNKNOWN__ 3 139182291 139182291 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:139182291A>G ENST00000232217.2 - 2 130 RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular NA NA epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776) cytosol (GO:0005829) retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215) breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) gcctcccaaaatgctgggatt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U13831 CCDS3109.1 3q23 2013-03-01 2001-11-28 ENSG00000114113 ENSG00000114113 5948 Fatty acid binding protein family 9920 protein-coding gene gene with protein product 180280 retinol-binding protein 2, cellular NA 7657783, 10072590 Standard NM_004164 NM_004164 NA Approved CRBP2, RBPC2, CRBPII, CRABP-II uc003eth.3 P50120 OTTHUMG00000159956 ENST00000232217.2:c.74-1159T>C chr3.hg19:g.139182291A>G NA A8K7G3|Q6ISQ9|Q6ISS7 hg19 CCDS3109.1 0.02 -0.228047 AAAxTGC COVERED NOVEL RBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358490.1 7 3.009214 KEEP 0 0 0 10 319 AA 0.992708 0.578679 0 - 4 60 141 0 0 11.235882 21 60 624 56 ENST00000232217.2 0.16 0.58293 RP11-438D8.2 0 __UNKNOWN__ __UNKNOWN__ 3 141078510 141078510 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:141078510T>C ENST00000507698.1 - 0 166 NA NA NA cagtggctcatgcctgtaatc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000507698.1: chr3.hg19:g.141078510T>C NA hg19 0.02 -0.236685 TCAxGCC COVERED NOVEL RP11-438D8.2-001 KNOWN basic antisense NA antisense OTTHUMT00000359336.2 7 3.308856 KEEP 0 0 0 11 321 TT 0.993072 0.608164 0 - 3 60 100 0 0 7.627983 19 60 516 49 ENST00000507698.1 0.136364 0.612407 TFDP2 7029 __UNKNOWN__ __UNKNOWN__ 3 141819448 141819448 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:141819448C>T ENST00000467072.1 - 2 457 TFDP2_ENST00000317104.7_Intron|TFDP2_ENST00000489671.1_Intron|TFDP2_ENST00000464782.1_Intron|TFDP2_ENST00000499676.2_Intron NM_001178138.1 NP_001171609.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) NA NA gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134) kidney(1)|upper_aerodigestive_tract(2) 3 ctcctgacctcaggtgatctg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U18422 CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1 3q23 2011-05-24 ENSG00000114126 ENSG00000114126 7029 11751 protein-coding gene gene with protein product 602160 NA 7784053, 9027491 Standard NM_006286 NM_001178138 NA Approved Dp-2 uc003eun.4 Q14188 OTTHUMG00000164975 ENST00000467072.1:c.202+1128G>A chr3.hg19:g.141819448C>T NA B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28 hg19 CCDS43159.1 0.02 -0.219299 CCTxAGG UNCOVERED NOVEL TFDP2-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000353297.2 10 2.407893 KEEP 15 0 0 8 283 CC 0 0 0 - 5 46 144 0 0 11.556511 18 60 623 69 ENST00000467072.1 0.217391 0.552887 GK5 256356 __UNKNOWN__ __UNKNOWN__ 3 141895778 141895778 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:141895778T>C ENST00000392993.2 - 12 1295 NM_001039547.2 NP_001034636.1 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) NA NA glycerol catabolic process (GO:0019563) ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370) kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1) 10 gctgggattataggcgtgagc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648681 CCDS33871.1 3q23 2014-02-12 2006-09-21 ENSG00000175066 ENSG00000175066 256356 Glycerol kinases 28635 protein-coding gene gene with protein product NA 12477932 Standard NM_001039547 NM_001039547 NA Approved MGC40579 uc003euq.2 Q6ZS86 OTTHUMG00000133572 ENST00000392993.2:c.1143+545A>G chr3.hg19:g.141895778T>C NA B2R9I2|D3DNG2|Q8N2A7|Q8N5E6 hg19 CCDS33871.1 0.02 -0.192949 TTAxAGG COVERED NOVEL GK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353999.1 3 2.406235 KEEP 0 0 0 8 232 TT 0.99257 0.454356 0 - 3 60 100 0 0 7.991902 14 60 399 47 ENST00000392993.2 0.176471 0.457757 GK5 256356 __UNKNOWN__ __UNKNOWN__ 3 141927750 141927750 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:141927750A>G ENST00000392993.2 - 4 469 GK5_ENST00000544571.1_Intron|GK5_ENST00000466685.3_Intron NM_001039547.2 NP_001034636.1 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) NA NA glycerol catabolic process (GO:0019563) ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370) kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1) 10 ccagcactttaggaggccgag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648681 CCDS33871.1 3q23 2014-02-12 2006-09-21 ENSG00000175066 ENSG00000175066 256356 Glycerol kinases 28635 protein-coding gene gene with protein product NA 12477932 Standard NM_001039547 NM_001039547 NA Approved MGC40579 uc003euq.2 Q6ZS86 OTTHUMG00000133572 ENST00000392993.2:c.318-4120T>C chr3.hg19:g.141927750A>G NA B2R9I2|D3DNG2|Q8N2A7|Q8N5E6 hg19 CCDS33871.1 0.02 -0.166629 TTTxGGA COVERED NOVEL GK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353999.1 3 3.310214 KEEP 0 0 0 11 349 AA 0.993072 0.351495 0 - 3 59 94 0 0 7.310525 15 60 431 49 ENST00000392993.2 0.166667 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 144499126 144499126 __UNKNOWN__ IGR SNP T T C rs141119939 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:144499126T>C NA NA RNA5SP144 (593264 upstream) : None (None downstream) NA NA NA tgcctgtaattccagcacttt 0.453 NA T||| 101 0.0201677 0.003 0.0202 5008 , , NA 16167 0.0317 NA 0.0229 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.144499126T>C NA hg19 0.02 -0.253918 AATxCCA COVERED NOVEL 0 9 3.009532 KEEP 1 0 0 10 329 TT 0.992708 0.663648 0 4 60 137 0 0 10.91356 20 60 578 62 0.166667 0.668523 PLOD2 5352 __UNKNOWN__ __UNKNOWN__ 3 145801648 145801648 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:145801648G>A ENST00000282903.5 - 11 1410 PLOD2_ENST00000494950.1_Intron|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000461497.1_Intron NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 NA NA cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) gattacaggcgtgagccacca 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U84573 CCDS3131.1, CCDS3132.1 3q24 2011-08-24 2005-01-04 ENSG00000152952 ENSG00000152952 5352 9082 protein-coding gene gene with protein product lysyl hydroxlase 2 601865 procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 NA 9054364 Standard NM_000935 XM_005247535 NA Approved LH2 uc003evr.1 O00469 OTTHUMG00000159417 ENST00000282903.5:c.1232+1307C>T chr3.hg19:g.145801648G>A NA B3KWS3|Q59ED2|Q8N170 hg19 CCDS3132.1 0.02 -0.437243 GGCxTGA COVERED NOVEL PLOD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355184.1 8 3.611484 KEEP 3 0 0 12 411 GG 0.993634 0.953748 0 - 4 60 119 0 0 7.957905 41 60 1335 103 ENST00000282903.5 0.088889 0.959859 PLSCR4 57088 __UNKNOWN__ __UNKNOWN__ 3 145931394 145931394 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:145931394A>G ENST00000354952.2 - 4 359 PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000446574.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Intron NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 NA NA cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128) kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 acaggcgtgaaccacagcacc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF199023 CCDS3133.1, CCDS54651.1 3q24 2008-07-18 ENSG00000114698 ENSG00000114698 57088 16497 protein-coding gene gene with protein product 607612 NA 10930526 Standard NM_020353 NM_020353 NA Approved uc003evt.4 Q9NRQ2 OTTHUMG00000159415 ENST00000354952.2:c.119-6846T>C chr3.hg19:g.145931394A>G NA A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505 hg19 CCDS3133.1 0.02 -0.210492 TGAxCCA COVERED NOVEL PLSCR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355172.1 8 2.407672 KEEP 0 0 0 8 267 AA 0.99257 0.518282 0 - 4 60 138 0 0 11.268784 17 60 498 46 ENST00000354952.2 0.190476 0.522161 ZIC4 84107 __UNKNOWN__ __UNKNOWN__ 3 147113816 147113816 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:147113816G>T ENST00000491672.1 - 3 513 ZIC4_ENST00000484399.1_Missense_Mutation_p.H171N|ZIC4_ENST00000383075.3_Missense_Mutation_p.H171N|ZIC4_ENST00000525172.2_Missense_Mutation_p.H221N|ZIC4_ENST00000425731.3_Missense_Mutation_p.H209N|ZIC4_ENST00000473123.1_Missense_Mutation_p.H171N NM_001243256.1 NP_001230185.1 Q8N9L1 ZIC4_HUMAN Zic family member 4 NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 AAGCAAATGTGGTTGGCCTGT 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 109 121 117 NA NA NA 3 NA NA 147113816 2203 4300 6503 SO:0001627 intron_variant AF332509 CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1 3q24 2013-01-08 2003-02-21 ENSG00000174963 ENSG00000174963 84107 Zinc fingers, C2H2-type 20393 protein-coding gene gene with protein product 608948 zinc finger protein of the cerebellum 4 NA Standard NM_001168378 NA Approved uc011bno.2 Q8N9L1 OTTHUMG00000037281 ENST00000491672.1:c.71-4783C>A chr3.hg19:g.147113816G>T NA A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94 hg19 CCDS58857.1 0.02 7.28818 TGTxGTT COVERED . . . . . . . . . . G 27.0 4.787678 0.90367 . . ENSG00000174963 ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748 D;D;D;D;D;D 0.91180 -2.8;-2.8;-2.8;-2.8;-2.8;-2.8 5.2 5.2 0.72013 Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.48767 D 0.000172 D 0.93400 0.7895 L 0.41824 1.3 0.80722 D 1 P;D 0.89917 0.858;1.0 P;D 0.97110 0.794;1.0 D 0.94231 0.7476 10 0.87932 D 0 . 18.7355 0.91753 0.0:0.0:1.0:0.0 . 221;171 B7Z2L2;Q8N9L1 .;ZIC4_HUMAN N 171;209;221;171;171;171 ENSP00000372553:H171N;ENSP00000397695:H209N;ENSP00000435509:H221N;ENSP00000417855:H171N;ENSP00000420775:H171N;ENSP00000420627:H171N ENSP00000372553:H171N H - 1 0 ZIC4 148596506 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 8.062000 0.89475 2.425000 0.82216 0.511000 0.50034 CAC NOVEL ZIC4-009 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000355512.1 0 27.989169 KEEP 0 0 0 93 3319 GG 1 1 0 - 86 60 2370 0 0 206.691318 172 60 5910 490 ENST00000491672.1 0.333333 1 HLTF 6596 __UNKNOWN__ __UNKNOWN__ 3 148781126 148781126 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:148781126T>C ENST00000310053.5 - 10 1354 HLTF_ENST00000465259.1_Intron|HLTF_ENST00000494055.1_Intron|HLTF_ENST00000392912.2_Intron NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor NA NA chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ggattacaggtgtgagccacc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L34673 CCDS33875.1 3q25.1-q26.1 2006-11-09 2006-11-09 2006-11-09 ENSG00000071794 ENSG00000071794 6596 RING-type (C3HC4) zinc fingers 11099 protein-coding gene gene with protein product 603257 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 SNF2L3, SMARCA3 NA 7558014 Standard NM_139048 NA Approved HIP116A, HLTF1, RNF80 uc003ewr.1 Q14527 OTTHUMG00000159534 ENST00000310053.5:c.1160+91A>G chr3.hg19:g.148781126T>C NA D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9 hg19 CCDS33875.1 0.02 3.698698 AGGxGTG COVERED NOVEL HLTF-003 KNOWN alternative_3_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000356064.1 19 13.839954 KEEP 3 0 0 46 1387 TT 1 0.999999 0 - 5 60 167 0 0 10.24065 106 60 3031 232 ENST00000310053.5 0.045045 0.999999 HLTF 6596 __UNKNOWN__ __UNKNOWN__ 3 148796127 148796127 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:148796127A>G ENST00000310053.5 - 3 422 HLTF_ENST00000465259.1_Intron|HLTF_ENST00000494055.1_Intron|HLTF_ENST00000392912.2_Intron NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor NA NA chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) gaggccaggaatttgagacca 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L34673 CCDS33875.1 3q25.1-q26.1 2006-11-09 2006-11-09 2006-11-09 ENSG00000071794 ENSG00000071794 6596 RING-type (C3HC4) zinc fingers 11099 protein-coding gene gene with protein product 603257 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 SNF2L3, SMARCA3 NA 7558014 Standard NM_139048 NA Approved HIP116A, HLTF1, RNF80 uc003ewr.1 Q14527 OTTHUMG00000159534 ENST00000310053.5:c.229-2293T>C chr3.hg19:g.148796127A>G NA D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9 hg19 CCDS33875.1 0.02 -0.438521 GGAxTTT COVERED NOVEL HLTF-003 KNOWN alternative_3_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000356064.1 13 3.009325 KEEP 0 0 0 10 325 AA 0.992708 0.952859 0 - 3 60 106 0 0 7.217046 43 60 1271 83 ENST00000310053.5 0.065217 0.959859 TM4SF4 7104 __UNKNOWN__ __UNKNOWN__ 3 149200380 149200380 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:149200380A>G ENST00000305354.4 + 3 1168 NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 NA NA tissue regeneration (GO:0042246) integral component of membrane (GO:0016021) large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) gcccaggctgaagtgcagtgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46932.1 3q25 2005-03-21 2005-03-21 ENSG00000169903 ENSG00000169903 7104 11856 protein-coding gene gene with protein product 606567 transmembrane 4 superfamily member 4 NA 7665614 Standard NM_004617 NA Approved il-TMP uc003exd.2 P48230 OTTHUMG00000159619 ENST00000305354.4:c.265-5026A>G chr3.hg19:g.149200380A>G NA B2RDA4 hg19 CCDS46932.1 0.02 -0.289415 CTGxAGT COVERED NOVEL TM4SF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356528.1 6 2.708257 KEEP 1 0 0 9 288 AA 0.99254 0.755211 0 + 4 60 109 0 1 7.63828 27 60 819 58 ENST00000305354.4 0.129032 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 149228806 149228806 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:149228806T>C NA NA TM4SF4 (7738 upstream) : WWTR1 (6215 downstream) NA NA NA tcccaaagtgttgggattaca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.149228806T>C NA hg19 0.02 -0.394526 GTGxTGG COVERED NOVEL 0 13 3.910668 KEEP 0 0 0 13 388 TT 0.994391 0.921442 0 3 60 100 0 0 6.841237 36 60 1003 80 0.076923 0.92664 WWTR1 25937 __UNKNOWN__ __UNKNOWN__ 3 149237489 149237489 __UNKNOWN__ 3'UTR SNP G G A rs13073865 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:149237489G>A ENST00000465804.1 - 0 2562 NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 NA NA cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) agcactttgggaggccgagat 0.468 NA T CAMTA1 epitheliod hemangioendothelioma G||| 2370 0.473243 0.2761 0.5576 5008 , , NA 16116 0.4752 NA 0.5815 False NA ,,, NA NA NA 2504 0.5665 NA NA NA Dom yes 3 3q23-q24 607392 WW domain containing transcription regulator 1 M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022036 CCDS3144.1 3q23-q24 2004-12-03 ENSG00000018408 ENSG00000018408 25937 24042 protein-coding gene gene with protein product 607392 NA 11118213, 15096513 Standard NM_015472 NM_015472 NA Approved TAZ, DKFZp586I1419 uc021xfm.1 Q9GZV5 OTTHUMG00000159614 ENST00000465804.1:c.*1103C>T chr3.hg19:g.149237489G>A NA D3DNH7|Q8N3P2|Q9Y3W6 hg19 CCDS3144.1 0.02 -0.438471 TGGxAGG COVERED NOVEL WWTR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356498.1 10 3.310678 KEEP 0 0 0 11 376 GG 0.993072 0.953209 0 - 25 60 694 0 0 68.999998 17 60 564 77 ENST00000465804.1 0.595238 0.959859 ANKUB1 389161 __UNKNOWN__ __UNKNOWN__ 3 149484480 149484480 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:149484480A>G ENST00000462519.2 - 0 2368 ANKUB1_ENST00000383050.3_Intron|ANKUB1_ENST00000446160.1_Intron A6NFN9 ANKUB_HUMAN ankyrin repeat and ubiquitin domain containing 1 NA NA breast(1)|kidney(1)|lung(1)|skin(1) 4 agctacttggaaggctgagat 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027233 3q25.1 2013-01-11 2011-05-10 2011-05-10 ENSG00000206199 ENSG00000206199 389161 Ankyrin repeat domain containing 29642 protein-coding gene gene with protein product chromosome 3 open reading frame 16 C3orf16 NA Standard NM_001144960 NM_001144960 NA Approved uc003exl.3 A6NFN9 OTTHUMG00000159615 ENST00000462519.2:c.*460T>C chr3.hg19:g.149484480A>G NA B4E2N8 hg19 0.02 5.323857 TGGxAGG COVERED NOVEL ANKUB1-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000356511.2 27 9.927767 KEEP 0 1 34 45 1330 AA 1 1 0 - 6 60 200 0 0 11.664903 160 60 4474 306 ENST00000462519.2 0.036145 1 ANKUB1 389161 __UNKNOWN__ __UNKNOWN__ 3 149484561 149484561 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:149484561A>G ENST00000462519.2 - 0 2287 ANKUB1_ENST00000383050.3_Intron|ANKUB1_ENST00000446160.1_Intron A6NFN9 ANKUB_HUMAN ankyrin repeat and ubiquitin domain containing 1 NA NA breast(1)|kidney(1)|lung(1)|skin(1) 4 ctccagcctgagcaacagaac 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027233 3q25.1 2013-01-11 2011-05-10 2011-05-10 ENSG00000206199 ENSG00000206199 389161 Ankyrin repeat domain containing 29642 protein-coding gene gene with protein product chromosome 3 open reading frame 16 C3orf16 NA Standard NM_001144960 NM_001144960 NA Approved uc003exl.3 A6NFN9 OTTHUMG00000159615 ENST00000462519.2:c.*379T>C chr3.hg19:g.149484561A>G NA B4E2N8 hg19 0.02 1.634341 CTGxGCA COVERED NOVEL ANKUB1-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000356511.2 10 2.242807 KEEP 0 1 36 20 654 AA 0.999869 0.999547 0 - 6 60 208 0 0 14.515065 71 60 2106 126 ENST00000462519.2 0.077922 0.999678 ANKUB1 389161 __UNKNOWN__ __UNKNOWN__ 3 149495036 149495036 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:149495036A>G ENST00000462519.2 - 3 851 ANKUB1_ENST00000383050.3_Intron|ANKUB1_ENST00000446160.1_Intron A6NFN9 ANKUB_HUMAN ankyrin repeat and ubiquitin domain containing 1 NA NA breast(1)|kidney(1)|lung(1)|skin(1) 4 caaggcgggcagatcagaaga 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027233 3q25.1 2013-01-11 2011-05-10 2011-05-10 ENSG00000206199 ENSG00000206199 389161 Ankyrin repeat domain containing 29642 protein-coding gene gene with protein product chromosome 3 open reading frame 16 C3orf16 NA Standard NM_001144960 NM_001144960 NA Approved uc003exl.3 A6NFN9 OTTHUMG00000159615 ENST00000462519.2:c.451+2989T>C chr3.hg19:g.149495036A>G NA B4E2N8 hg19 0.02 -0.394648 GGCxGAT COVERED NOVEL ANKUB1-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000356511.2 3 2.708361 KEEP 1 0 0 9 285 AA 0.99257 0.919755 0 - 3 60 98 0 0 6.573726 38 60 1113 88 ENST00000462519.2 0.073171 0.92664 ANKUB1 389161 __UNKNOWN__ __UNKNOWN__ 3 149507629 149507629 __UNKNOWN__ Intron SNP A A C rs143107135 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:149507629A>C ENST00000462519.2 - 2 634 ANKUB1_ENST00000383050.3_Intron|ANKUB1_ENST00000446160.1_Intron A6NFN9 ANKUB_HUMAN ankyrin repeat and ubiquitin domain containing 1 NA NA breast(1)|kidney(1)|lung(1)|skin(1) 4 gttggccaggatggtctctat 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027233 3q25.1 2013-01-11 2011-05-10 2011-05-10 ENSG00000206199 ENSG00000206199 389161 Ankyrin repeat domain containing 29642 protein-coding gene gene with protein product chromosome 3 open reading frame 16 C3orf16 NA Standard NM_001144960 NM_001144960 NA Approved uc003exl.3 A6NFN9 OTTHUMG00000159615 ENST00000462519.2:c.234+938T>G chr3.hg19:g.149507629A>C NA B4E2N8 hg19 0.02 -0.429759 AGGxTGG COVERED NOVEL ANKUB1-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000356511.2 9 2.407339 KEEP 0 0 0 8 250 AA 0.99257 0.9474 0 - 3 60 107 0 0 7.346531 42 60 1249 82 ENST00000462519.2 0.066667 0.954491 RP11-167H9.4 0 __UNKNOWN__ __UNKNOWN__ 3 149769390 149769390 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:149769390C>T ENST00000487840.1 + 0 46 NA NA NA ctccgcctcccgggttcaagc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000487840.1: chr3.hg19:g.149769390C>T NA hg19 0.02 1.158051 TCCxGGG COVERED NOVEL RP11-167H9.4-003 KNOWN basic antisense NA antisense OTTHUMT00000357120.1 4 8.860824 KEEP 1 1 30 40 1285 CC 1 0.999919 0 + 5 49 148 0 0 8.814995 85 60 2556 147 ENST00000487840.1 0.055556 0.999919 RP11-167H9.4 0 __UNKNOWN__ __UNKNOWN__ 3 149784482 149784482 __UNKNOWN__ RNA SNP A A G rs149652161 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:149784482A>G ENST00000487840.1 + 0 46 NA NA NA aggaggaggaagaggaggagg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000487840.1: chr3.hg19:g.149784482A>G NA hg19 0.02 -0.385724 GGAxGAG COVERED NOVEL RP11-167H9.4-003 KNOWN basic antisense NA antisense OTTHUMT00000357120.1 7 3.009481 KEEP 0 0 0 10 328 AA 0.992708 0.911475 0 + 3 60 98 1 0 6.750401 33 60 944 85 ENST00000487840.1 0.083333 0.918171 EIF2A 83939 __UNKNOWN__ __UNKNOWN__ 3 150268710 150268710 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:150268710A>G ENST00000487799.1 + 2 146 SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Intron|EIF2A_ENST00000460851.1_Intron|EIF2A_ENST00000406576.3_Intron Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa NA NA positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615) ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049) cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ctcccaaagtactgggattac 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF212241 CCDS46935.1 3q25.1 2011-01-19 2006-01-24 ENSG00000144895 ENSG00000144895 83939 3254 protein-coding gene gene with protein product 609234 NA 12133843, 1620067 Standard NM_032025 NM_032025 NA Approved EIF-2A uc003eya.3 Q9BY44 OTTHUMG00000159775 ENST00000487799.1:c.29-1433A>G chr3.hg19:g.150268710A>G NA A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81 hg19 0.02 -0.306926 AGTxCTG COVERED NOVEL EIF2A-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357260.2 3 2.707847 KEEP 0 0 0 9 271 AA 0.99254 0.812359 0 + 3 60 98 0 0 6.868006 30 60 844 69 ENST00000487799.1 0.090909 0.818465 EIF2A 83939 __UNKNOWN__ __UNKNOWN__ 3 150268724 150268724 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:150268724T>C ENST00000487799.1 + 2 146 SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Intron|EIF2A_ENST00000460851.1_Intron|EIF2A_ENST00000406576.3_Intron Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa NA NA positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615) ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049) cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ggattacaggtgtgagccacc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF212241 CCDS46935.1 3q25.1 2011-01-19 2006-01-24 ENSG00000144895 ENSG00000144895 83939 3254 protein-coding gene gene with protein product 609234 NA 12133843, 1620067 Standard NM_032025 NM_032025 NA Approved EIF-2A uc003eya.3 Q9BY44 OTTHUMG00000159775 ENST00000487799.1:c.29-1419T>C chr3.hg19:g.150268724T>C NA A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81 hg19 0.02 -0.306971 AGGxGTG COVERED NOVEL EIF2A-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357260.2 4 3.008945 KEEP 0 0 0 10 309 TT 0.992708 0.79441 0 + 4 60 131 0 0 9.774489 28 60 829 70 ENST00000487799.1 0.125 0.800245 EIF2A 83939 __UNKNOWN__ __UNKNOWN__ 3 150293617 150293617 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:150293617C>T ENST00000487799.1 + 10 1540 SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Intron|EIF2A_ENST00000383043.3_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000482471.1_Intron|EIF2A_ENST00000460851.1_Intron|EIF2A_ENST00000406576.3_Intron Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa NA NA positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615) ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049) cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ggctcacgcccgtaatcccag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF212241 CCDS46935.1 3q25.1 2011-01-19 2006-01-24 ENSG00000144895 ENSG00000144895 83939 3254 protein-coding gene gene with protein product 609234 NA 12133843, 1620067 Standard NM_032025 NM_032025 NA Approved EIF-2A uc003eya.3 Q9BY44 OTTHUMG00000159775 ENST00000487799.1:c.1422+68C>T chr3.hg19:g.150293617C>T NA A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81 hg19 0.02 3.020776 GCCxGTA COVERED NOVEL EIF2A-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357260.2 10 14.976324 KEEP 0 1 32 61 2006 CC 1 0.999999 0 + 8 60 235 0 0 14.855257 103 60 3251 229 ENST00000487799.1 0.072072 0.999999 FAM194A 0 __UNKNOWN__ __UNKNOWN__ 3 150419831 150419831 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:150419831C>T ENST00000295910.6 - 2 514 FAM194A_ENST00000491361.1_Intron NM_152394.3 NP_689607.2 NA NA NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTATTTTACTCTACTTCCTAA 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000295910.6:c.461+76G>A chr3.hg19:g.150419831C>T NA hg19 CCDS3151.2 0.02 -0.13155 ACTxTAC COVERED NOVEL FAM194A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257666.1 3 3.009675 KEEP 0 0 0 10 340 CC 0.992708 0.227502 0 - 4 60 101 0 0 8.230653 11 60 351 27 ENST00000295910.6 0.266667 0.229173 MED12L 116931 __UNKNOWN__ __UNKNOWN__ 3 151143374 151143374 __UNKNOWN__ Intron SNP C C G rs201186601 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:151143374C>G ENST00000474524.1 + 42 6341 MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like NA NA mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) gtgtgtgtgtctgtgtTTAAT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046855, AF388364 CCDS33876.1 3q25.1 2007-07-30 2007-07-30 ENSG00000144893 ENSG00000144893 116931 16050 protein-coding gene gene with protein product 611318 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like NA 11524702 Standard NM_053002 XM_006713487 NA Approved KIAA1635, TNRC11L, TRALPUSH, TRALP uc003eyp.3 Q86YW9 OTTHUMG00000159844 ENST00000474524.1:c.6304-4713C>G chr3.hg19:g.151143374C>G NA Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69 hg19 CCDS33876.1 0.02 3.733453 TGTxTGT COVERED NOVEL MED12L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357707.2 29 3.848238 KEEP 0 1 35 25 878 CC 0.999988 0.999988 0 + 15 60 512 1 1 38.186004 115 60 3736 233 ENST00000474524.1 0.115385 1 MBNL1 4154 __UNKNOWN__ __UNKNOWN__ 3 152151278 152151278 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:152151278A>G ENST00000324210.5 + 4 1468 MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000357472.3_Intron NM_021038.3 NP_066368.2 Q9NR56 MBNL1_HUMAN muscleblind-like splicing regulator 1 NA NA alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) ggtggctcacacctgtaatcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y13829 CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1 3q25 2013-01-18 2012-02-23 2003-03-14 ENSG00000152601 ENSG00000152601 4154 Zinc fingers, CCCH-type domain containing 6923 protein-coding gene gene with protein product 606516 muscleblind (Drosophila)-like, muscleblind-like (Drosophila) MBNL NA Standard NM_021038 NM_021038 NA Approved KIAA0428, EXP42, EXP40, EXP35, EXP uc003ezm.3 Q9NR56 OTTHUMG00000159163 ENST00000324210.5:c.549+569A>G chr3.hg19:g.152151278A>G NA E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3 hg19 CCDS3163.1 0.02 -0.263107 CACxCCT UNCOVERED NOVEL MBNL1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000353602.1 6 2.407277 KEEP 2 0 0 8 247 AA 0 0 0 + 3 60 104 0 0 7.742479 24 60 700 58 ENST00000324210.5 0.111111 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 152352133 152352133 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:152352133T>C NA NA RP11-362A9.3 (137531 upstream) : RP11-788A4.1 (13801 downstream) NA NA NA ggattacaggtgtgagccacc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.152352133T>C NA hg19 0.02 -0.228036 AGGxGTG COVERED NOVEL 0 5 3.00885 KEEP 1 0 0 10 306 TT 0.992708 0.578679 0 3 60 103 0 0 7.805467 21 60 625 52 0.125 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 152766192 152766192 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:152766192A>G NA NA RP11-38P22.2 (206964 upstream) : RP11-529G21.2 (108107 downstream) NA NA NA tgtaatcccaacactttggga 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.152766192A>G NA hg19 0.02 -0.298169 CCAxCAC COVERED NOVEL 0 9 2.708468 KEEP 3 0 0 9 296 AA 0.99257 0.775257 0 3 60 100 0 0 7.198184 27 60 789 67 0.1 0.78106 RP11-23D24.2 0 __UNKNOWN__ __UNKNOWN__ 3 153188259 153188259 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:153188259T>C ENST00000493214.2 - 0 381 NA NA NA gttgcccaggttggagtgcag 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000493214.2: chr3.hg19:g.153188259T>C NA hg19 0.02 -0.35957 AGGxTGG COVERED NOVEL RP11-23D24.2-001 KNOWN basic antisense NA processed_transcript OTTHUMT00000356965.2 9 2.708197 KEEP 0 0 0 9 287 TT 0.99254 0.882244 0 - 3 60 101 0 0 7.049537 33 60 959 71 ENST00000493214.2 0.083333 0.888875 MME 4311 __UNKNOWN__ __UNKNOWN__ 3 154807733 154807733 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:154807733C>A ENST00000460393.1 + 3 316 MME_ENST00000382989.3_3'UTR|MME_ENST00000462745.1_Intron|MME_ENST00000360490.2_Intron|MME_ENST00000492661.1_Intron|MME_ENST00000493237.1_Intron NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase NA NA angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233) axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021) endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616)|Liraglutide(DB06655) tggaagacagcgcaagactct 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3172.1 3q25.2 2012-01-31 2007-02-21 ENSG00000196549 ENSG00000196549 4311 3.4.24.11 CD molecules 7154 protein-coding gene gene with protein product neutral endopeptidase, enkephalinase, neprilysin 120520 NA Standard NM_000902 NM_007287 NA Approved CALLA, CD10, NEP uc003fad.1 P08473 OTTHUMG00000158455 ENST00000460393.1:c.196+4850C>A chr3.hg19:g.154807733C>A NA A8K6U6|D3DNJ9|Q3MIX4 hg19 CCDS3172.1 0.02 -0.420016 CAGxGCA COVERED NOVEL MME-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351076.1 0 3.310093 KEEP 0 0 0 11 357 CC 0.993072 0.941832 0 + 4 60 113 0 0 7.39922 40 60 1216 68 ENST00000460393.1 0.090909 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 155531797 155531797 __UNKNOWN__ IGR SNP T T C rs13317669 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:155531797T>C NA NA C3orf33 (7657 upstream) : SLC33A1 (7015 downstream) NA NA NA ctcgctctgttgcccaggctg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.155531797T>C NA hg19 0.02 -0.438536 TGTxGCC COVERED NOVEL 0 14 2.407378 KEEP 4 0 0 8 254 TT 0.99257 0.952727 0 3 34 100 0 1 6.77297 38 60 1136 93 0.073171 0.959859 SLC33A1 9197 __UNKNOWN__ __UNKNOWN__ 3 155547900 155547900 __UNKNOWN__ Intron SNP T T C rs147424594 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:155547900T>C ENST00000392845.3 - 5 1647 SLC33A1_ENST00000359479.3_Intron O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 NA NA acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) acetyl-CoA transporter activity (GO:0008521) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) tgcctgtaattccagcacttt 0.488 NA T||| 47 0.00938498 8e-04 0 5008 , , NA 14581 0.0437 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D88152 CCDS3173.1 3q25.31 2013-05-22 2002-12-06 ENSG00000169359 ENSG00000169359 9197 Solute carriers 95 protein-coding gene gene with protein product 603690 acetyl-Coenzyme A transporter, spastic paraplegia 42 (autosomal dominant) ACATN, SPG42 NA 9096318, 19061983 Standard NM_004733 NM_004733 NA Approved AT-1, AT1 uc003fao.2 O00400 OTTHUMG00000158481 ENST00000392845.3:c.1267-208A>G chr3.hg19:g.155547900T>C NA B2R5Q2|D3DNK4 hg19 CCDS3173.1 0.02 -0.350286 AATxCCA COVERED NOVEL SLC33A1-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351130.3 7 2.707343 KEEP 0 0 0 9 268 TT 0.99254 0.882244 0 - 3 60 105 1 0 7.611674 29 60 848 74 ENST00000392845.3 0.09375 0.888875 SLC33A1 9197 __UNKNOWN__ __UNKNOWN__ 3 155556816 155556816 __UNKNOWN__ Intron SNP A A G rs150402492 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:155556816A>G ENST00000392845.3 - 2 1344 SLC33A1_ENST00000359479.3_Intron O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 NA NA acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) acetyl-CoA transporter activity (GO:0008521) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) agtggctcacacctgtaatcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D88152 CCDS3173.1 3q25.31 2013-05-22 2002-12-06 ENSG00000169359 ENSG00000169359 9197 Solute carriers 95 protein-coding gene gene with protein product 603690 acetyl-Coenzyme A transporter, spastic paraplegia 42 (autosomal dominant) ACATN, SPG42 NA 9096318, 19061983 Standard NM_004733 NM_004733 NA Approved AT-1, AT1 uc003fao.2 O00400 OTTHUMG00000158481 ENST00000392845.3:c.963+3404T>C chr3.hg19:g.155556816A>G NA B2R5Q2|D3DNK4 hg19 CCDS3173.1 0.02 -0.306936 CACxCCT COVERED NOVEL SLC33A1-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351130.3 17 2.399923 KEEP 2 0 0 8 235 AA 0.99257 0.7943 0 - 3 60 106 0 0 7.752453 28 60 809 63 ENST00000392845.3 0.096774 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 155577441 155577441 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:155577441A>G NA NA SLC33A1 (5223 upstream) : GMPS (10883 downstream) NA NA NA caaagtgctgagattacaggc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.155577441A>G NA hg19 0.02 -0.201745 CTGxGAT COVERED NOVEL 0 10 2.708702 KEEP 3 0 0 9 304 AA 0.99257 0.4869 0 4 60 136 0 0 11.068609 17 60 520 43 0.190476 0.490544 KCNAB1 7881 __UNKNOWN__ __UNKNOWN__ 3 155893147 155893147 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:155893147T>C ENST00000471742.1 + 1 459 KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron NM_003471.3 NP_003462.2 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 NA NA learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) cggtggctcatgcctgtaatc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U33428 CCDS3174.1, CCDS3175.1, CCDS33882.1 3q26.1 2006-11-29 ENSG00000169282 ENSG00000169282 7881 Potassium channels, Aldo-keto reductases 6228 protein-coding gene gene with protein product 601141 NA 8838324, 7499366 Standard NM_003471 NM_172160 NA Approved AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3 uc003far.2 Q14722 OTTHUMG00000158552 ENST00000471742.1:c.242+31938T>C chr3.hg19:g.155893147T>C NA A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869 hg19 CCDS3175.1 0.02 1.418131 TCAxGCC COVERED NOVEL KCNAB1-004 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000351413.1 7 4.813136 KEEP 3 0 0 16 493 TT 0.997832 0.9976 0 + 4 60 128 0 0 7.797172 77 60 2257 132 ENST00000471742.1 0.049383 0.999768 SSR3 6747 __UNKNOWN__ __UNKNOWN__ 3 156258142 156258142 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:156258142T>C ENST00000265044.2 - 0 3502 NM_007107.3 NP_009038.1 Q9UNL2 SSRG_HUMAN signal sequence receptor, gamma (translocon-associated protein gamma) NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784) endometrium(1)|prostate(2) 3 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) cgcctgtaattccagcacttt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC017203 CCDS3176.1 3q25.31 2004-02-27 ENSG00000114850 ENSG00000114850 6747 11325 protein-coding gene gene with protein product 606213 NA Standard NM_007107 NM_007107 NA Approved TRAPG uc003fau.3 Q9UNL2 OTTHUMG00000158632 ENST00000265044.2:c.*2850A>G chr3.hg19:g.156258142T>C NA B2R7D0|B4E2P2|D3DNK5|Q549M4 hg19 CCDS3176.1 0.02 1.815386 AATxCCA COVERED NOVEL SSR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351521.1 7 8.726981 KEEP 4 0 0 29 945 TT 0.999997 0.976862 0 - 6 60 197 0 0 14.543123 45 60 1355 110 ENST00000265044.2 0.117647 0.976865 LINC00886 730091 __UNKNOWN__ __UNKNOWN__ 3 156512559 156512559 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:156512559A>G ENST00000472943.1 - 0 148 NR_038387.1 long intergenic non-protein coding RNA 886 NA NA NA tccagcctggatgacagagtg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 3q25.31 2013-05-17 ENSG00000240875 ENSG00000240875 730091 Long non-coding RNAs 48572 non-coding RNA RNA, long non-coding NA Standard NR_038387 NA Approved OTTHUMG00000158647 ENST00000472943.1: chr3.hg19:g.156512559A>G NA hg19 0.02 -0.140334 TGGxTGA UNCOVERED NOVEL LINC00886-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000351622.1 6 2.406703 KEEP 2 0 0 8 237 AA 0 0 0 - 4 60 135 0 0 11.924193 9 60 263 31 ENST00000472943.1 0.307692 0.260965 CCNL1 57018 __UNKNOWN__ __UNKNOWN__ 3 156867151 156867151 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:156867151C>T ENST00000295926.3 - 10 1275 c.1157G>A c.(1156-1158)aGt>aAt p.S386N CCNL1_ENST00000461804.1_Missense_Mutation_p.S386N NM_020307.2 NP_064703.1 Q9UK58 CCNL1_HUMAN cyclin L1 386 NA regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351) nuclear speck (GO:0016607)|nucleus (GO:0005634) NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) GCTATTTCTACTTCTCTTGCT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 230 206 214 NA NA NA 3 NA NA 156867151 2203 4300 6503 SO:0001583 missense AF180920 CCDS3178.1 3q25.31 2008-02-05 ENSG00000163660 ENSG00000163660 57018 20569 protein-coding gene gene with protein product 613384 NA 11980906 Standard NM_020307 NM_020307 NA Approved ania-6a uc003fbf.3 Q9UK58 OTTHUMG00000158713 ENST00000295926.3:c.1157G>A chr3.hg19:g.156867151C>T ENSP00000295926:p.Ser386Asn NA B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3 hg19 CCDS3178.1 0.02 2.789351 CTAxTTC COVERED . . . . . . . . . . C 12.48 1.949554 0.34377 . . ENSG00000163660 ENST00000461804;ENST00000295926 T;D 0.97089 1.85;-4.24 5.57 5.57 0.84162 . 0.083564 0.85682 D 0.000000 D 0.93612 0.7960 N 0.20986 0.625 0.80722 D 1 B;P 0.38922 0.421;0.651 B;B 0.38378 0.054;0.272 D 0.92450 0.5969 10 0.13853 T 0.58 -20.646 19.5765 0.95446 0.0:1.0:0.0:0.0 . 386;386 Q9UK58;C9JPL0 CCNL1_HUMAN;. N 386 ENSP00000420277:S386N;ENSP00000295926:S386N ENSP00000295926:S386N S - 2 0 CCNL1 158349845 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.283000 0.65621 2.624000 0.88883 0.655000 0.94253 AGT NOVEL CCNL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351859.1 3 13.543327 KEEP 0 0 0 45 1607 CC 1 1 0 - 6 60 179 0 0 10.141135 128 60 4408 254 ENST00000295926.3 0.044776 1 VEPH1 79674 __UNKNOWN__ __UNKNOWN__ 3 157200282 157200282 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:157200282A>G ENST00000362010.2 - 3 446 VEPH1_ENST00000468233.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000494677.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000537559.1_Intron NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 NA NA plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) aaagtgctggaattacaggtg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL713656 CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1 3q24-q25 2013-01-10 2012-12-10 ENSG00000197415 ENSG00000197415 79674 Pleckstrin homology (PH) domain containing 25735 protein-coding gene gene with protein product 609594 ventricular zone expressed PH domain homolog 1 (zebrafish) NA 11214970, 15388229 Standard NM_024621 NM_024621 NA Approved FLJ12604, KIAA1692 uc003fbk.2 Q14D04 OTTHUMG00000158711 ENST00000362010.2:c.139-11964T>C chr3.hg19:g.157200282A>G NA D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7 hg19 CCDS3179.1 0.02 -0.368332 TGGxATT COVERED NOVEL VEPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351845.3 9 2.407329 KEEP 0 0 0 8 252 AA 0.99257 0.892632 0 - 5 60 156 0 0 11.563944 33 60 959 71 ENST00000362010.2 0.131579 0.899314 SHOX2 6474 __UNKNOWN__ __UNKNOWN__ 3 157820733 157820733 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:157820733G>A ENST00000389589.4 - 3 554 SHOX2_ENST00000441443.2_Intron|SHOX2_ENST00000425436.3_Intron|SHOX2_ENST00000490689.2_5'UTR|SHOX2_ENST00000554685.1_Intron|SHOX2_ENST00000483851.2_Intron NM_003030.4 NP_003021.3 O60902 SHOX2_HUMAN short stature homeobox 2 NA NA cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) acacacacacgcacacacaca 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ002368 CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1 3q25.32 2011-06-20 ENSG00000168779 ENSG00000168779 6474 Homeoboxes / PRD class 10854 protein-coding gene gene with protein product 602504 NA 9482898, 9466998 Standard NM_006884 NA Approved SHOT, OG12X, OG12 uc003fbs.3 O60902 OTTHUMG00000158755 ENST00000389589.4:c.419-58C>T chr3.hg19:g.157820733G>A NA O60465|O60467|O60903 hg19 CCDS33884.2 0.02 4.425981 CACxCAC COVERED NOVEL SHOX2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000352056.2 7 21.132246 KEEP 0 2 56 90 3048 GG 1 1 0 - 10 60 287 1 0 17.574239 139 60 4576 284 ENST00000389589.4 0.067114 1 RSRC1 51319 __UNKNOWN__ __UNKNOWN__ 3 158058067 158058067 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:158058067T>C ENST00000295930.3 + 6 693 RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000480820.1_Intron|RSRC1_ENST00000475278.2_Intron|RSRC1_ENST00000464171.1_Intron NM_001271838.1|NM_016625.2 NP_001258767.1|NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634) cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) catggtggcttacacctgtaa 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF208853 CCDS3181.1, CCDS63822.1 3q25.32 2009-09-09 ENSG00000174891 ENSG00000174891 51319 24152 protein-coding gene gene with protein product splicing factor, arginine/serine-rich 21 613352 NA 15798186, 19065146 Standard NM_016625 NM_001271838 NA Approved MGC12197, BM-011, SRrp53, SFRS21 uc003fbu.2 Q96IZ7 OTTHUMG00000158758 ENST00000295930.3:c.532-14579T>C chr3.hg19:g.158058067T>C NA A8K2R9|Q96QK2|Q9NZE5 hg19 CCDS3181.1 0.02 -0.315694 GCTxACA COVERED NOVEL RSRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352063.2 9 2.407072 KEEP 0 0 0 8 243 TT 0.99257 0.829507 0 + 4 60 127 0 0 9.494971 26 60 721 66 ENST00000295930.3 0.133333 0.835716 RARRES1 5918 __UNKNOWN__ __UNKNOWN__ 3 158428277 158428277 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:158428277A>G ENST00000237696.5 - 3 816 RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Intron NM_206963.1 NP_996846.1 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene induced) 1 NA NA negative regulation of cell proliferation (GO:0008285) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) gattacaggcatgagccaccg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U27185 CCDS3184.1, CCDS54665.1 3q25.32 2013-07-29 ENSG00000118849 ENSG00000118849 5918 9867 protein-coding gene gene with protein product latexin-like 605090 NA 8601727, 9270552 Standard NM_002888 NA Approved TIG1, LXNL uc003fci.3 P49788 OTTHUMG00000158834 ENST00000237696.5:c.535+249T>C chr3.hg19:g.158428277A>G NA Q8N1D7 hg19 CCDS3184.1 0.02 -0.323933 GGCxTGA COVERED NOVEL RARRES1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352358.1 10 3.008457 KEEP 4 0 0 10 310 AA 0.99257 0.829507 0 - 3 60 98 0 0 6.868885 30 60 869 73 ENST00000237696.5 0.090909 0.835716 IQCJ-SCHIP1 100505385 __UNKNOWN__ __UNKNOWN__ 3 158963442 158963442 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:158963442A>G ENST00000485419.1 + 2 178 IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000481796.1_Intron|IQCJ_ENST00000482126.1_Intron|IQCJ_ENST00000397832.2_Intron|IQCJ_ENST00000451172.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron NM_001197113.1 NP_001184042.1 IQCJ-SCHIP1 readthrough NA NA central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 tagtagagacagggtttcacc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56289.1, CCDS56291.1 3q25.33 2011-03-24 ENSG00000250588 ENSG00000250588 100505385 38842 other readthrough NA Standard NM_001197113 NM_001197113 NA Approved uc003fcq.2 OTTHUMG00000162426 ENST00000485419.1:c.10-190A>G chr3.hg19:g.158963442A>G NA hg19 CCDS56289.1 0.02 -0.412163 GACxGGG COVERED NOVEL IQCJ-SCHIP1-001 KNOWN basic|appris_candidate_longest|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000368858.1 6 2.543176 KEEP 3 1 36 21 660 AA 0.999879 0.941627 0 + 5 60 137 0 0 9.329137 39 60 1144 84 ENST00000485419.1 0.113636 0.941741 KPNA4 3840 __UNKNOWN__ __UNKNOWN__ 3 160231328 160231328 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:160231328T>C ENST00000334256.4 - 13 1443 NM_002268.4 NP_002259.1 O00629 IMA3_HUMAN karyopherin alpha 4 (importin alpha 3) NA NA cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654) protein transporter activity (GO:0008565) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) gctgggattataggtgtgagc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002533 CCDS3191.1 3q25.33 2013-02-14 ENSG00000186432 ENSG00000186432 3840 Importins, Armadillo repeat containing 6397 protein-coding gene gene with protein product 602970 NA 9168958, 9395085 Standard NM_002268 NM_002268 NA Approved QIP1, SRP3, IPOA3, MGC12217, MGC26703 uc003fdn.3 O00629 OTTHUMG00000159033 ENST00000334256.4:c.1137+536A>G chr3.hg19:g.160231328T>C NA A8K4S6|D3DNM2|O00190 hg19 CCDS3191.1 0.02 -0.403319 TTAxAGG COVERED NOVEL KPNA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352960.1 10 3.309972 KEEP 0 0 0 11 341 TT 0.993072 0.928018 0 - 3 60 106 0 0 7.406008 37 60 1046 81 ENST00000334256.4 0.075 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 165394203 165394203 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:165394203A>C NA NA RP11-85M11.2 (20992 upstream) : BCHE (96488 downstream) NA NA NA gtaatcccagaactttgggag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.165394203A>C NA hg19 0.02 -0.07894 CAGxACT UNCOVERED NOVEL 0 0 2.407486 KEEP 0 0 0 8 260 AA 0.99257 0.09898 0 3 60 105 0 0 9.443841 6 60 177 20 0.333333 0.099721 SAMD7 344658 __UNKNOWN__ __UNKNOWN__ 3 169656850 169656850 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:169656850G>C ENST00000428432.2 + 0 2286 SAMD7_ENST00000335556.3_3'UTR NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 NA NA NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) gtggctcacggctgtaatccc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537903 CCDS3209.1 3q26.31 2013-01-10 ENSG00000187033 ENSG00000187033 344658 Sterile alpha motif (SAM) domain containing 25394 protein-coding gene gene with protein product NA Standard NM_182610 NM_182610 NA Approved DKFZp686E1583 uc003fgd.3 Q7Z3H4 OTTHUMG00000158730 ENST00000428432.2:c.*556G>C chr3.hg19:g.169656850G>C NA hg19 CCDS3209.1 0.02 -0.36835 ACGxCTG COVERED NOVEL SAMD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351959.1 5 2.407823 KEEP 1 0 0 8 281 GT 0.99254 0.911321 0 + 3 60 102 0 0 7.309408 29 60 945 66 ENST00000428432.2 0.09375 0.918171 SEC62 7095 __UNKNOWN__ __UNKNOWN__ 3 169690472 169690472 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:169690472A>T ENST00000337002.4 + 2 94 SEC62_ENST00000480708.1_Intron NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) NA NA cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791) protein transporter activity (GO:0008565)|receptor activity (GO:0004872) NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 tgcctcagccacccaaagtac 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87127 CCDS3210.1 3q26.2 2008-04-22 2008-04-22 2008-04-22 ENSG00000008952 ENSG00000008952 7095 11846 protein-coding gene gene with protein product 602173 translocation protein 1 TLOC1 NA 9020021, 10799540 Standard NM_003262 NA Approved Dtrp1, HTP1 uc003fgh.3 Q99442 OTTHUMG00000158753 ENST00000337002.4:c.37-2924A>T chr3.hg19:g.169690472A>T NA D3DNQ0|O00682|O00729 hg19 CCDS3210.1 0.02 -0.271821 GCCxCCC COVERED NOVEL SEC62-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352043.1 8 3.008907 KEEP 1 0 0 10 309 AA 0.992708 0.712085 0 + 3 60 96 1 0 6.753543 28 60 792 59 ENST00000337002.4 0.096774 0.717315 GPR160 26996 __UNKNOWN__ __UNKNOWN__ 3 169782590 169782590 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:169782590A>G ENST00000355897.5 + 3 416 NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) G-protein coupled receptor activity (GO:0004930) breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) acaggcgtgaaccaccgcacc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB083583 CCDS3211.1 3q26.2-q27 2012-08-21 ENSG00000173890 ENSG00000173890 26996 GPCR / Class A : Orphans 23693 protein-coding gene gene with protein product NA 12044878 Standard NM_014373 NM_014373 NA Approved GPCR150, GPCR1 uc003fgi.3 Q9UJ42 OTTHUMG00000158776 ENST00000355897.5:c.-192-14972A>G chr3.hg19:g.169782590A>G NA D3DNQ2 hg19 CCDS3211.1 0.02 -0.342045 TGAxCCA COVERED NOVEL GPR160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352167.1 6 2.407296 KEEP 0 0 0 8 255 AA 0.99257 0.859313 0 + 3 60 100 0 0 7.109518 29 60 854 59 ENST00000355897.5 0.09375 0.865745 PHC3 80012 __UNKNOWN__ __UNKNOWN__ 3 169868455 169868455 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:169868455T>C ENST00000495893.2 - 5 446 PHC3_ENST00000474275.1_Intron|PHC3_ENST00000494943.1_Intron|PHC3_ENST00000467570.1_Intron NM_024947.3 NP_079223.3 Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) NA NA multicellular organismal development (GO:0007275) actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) gagccgagattgcgccactgc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46952.1 3q26.32 2014-01-28 2006-09-12 ENSG00000173889 ENSG00000173889 80012 Sterile alpha motif (SAM) domain containing 15682 protein-coding gene gene with protein product early development regulator 3, polyhomeotic like 3 polyhomeotic like 3 (Drosophila) NA 12167701, 12384788 Standard NM_024947 NM_024947 NA Approved EDR3, FLJ12967, FLJ12729, HPH3 uc003fgl.2 Q8NDX5 OTTHUMG00000158777 ENST00000495893.2:c.415-1423A>G chr3.hg19:g.169868455T>C NA A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4 hg19 CCDS46952.1 0.02 4.945525 GATxGCG COVERED . . . . . . . . . . T 0.004 -2.265479 0.00259 . . ENSG00000173889 ENST00000465896 T 0.40225 1.04 0.354 -0.708 0.11241 . . . . . T 0.27278 0.0669 . . . 0.09310 N 1 . . . . . . T 0.25187 -1.0139 4 . . . . . . . . . . . D 153 ENSP00000418377:N153D . N - 1 0 PHC3 171351149 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -0.286000 0.08399 -0.544000 0.06232 -0.548000 0.04221 AAT NOVEL PHC3-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352186.3 9 5.415721 KEEP 2 0 0 18 542 TT 0.999859 0.999859 0 - 8 60 229 0 0 13.448904 148 60 4138 259 ENST00000495893.2 0.051282 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 170122232 170122232 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:170122232A>G NA NA SKIL (7609 upstream) : RP11-469J4.3 (6067 downstream) NA NA NA gggattacagacgtgagccac 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.170122232A>G NA hg19 0.02 -0.38587 CAGxCGT UNCOVERED NOVEL 0 16 2.407399 KEEP 4 0 0 8 254 AA 0 0 0 3 49 104 0 0 7.240119 36 60 1050 72 0.076923 0.918171 CLDN11 5010 __UNKNOWN__ __UNKNOWN__ 3 170151054 170151054 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:170151054A>G ENST00000064724.3 + 0 1336 CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR NM_005602.5 NP_005593.2 O75508 CLD11_HUMAN claudin 11 NA NA axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283) basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) tcagcctcccaagtagctggg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF068863 CCDS3213.1 3q26.2-q26.3 2008-08-01 2008-08-01 ENSG00000013297 ENSG00000013297 5010 Claudins 8514 protein-coding gene gene with protein product 601326 oligodendrocyte transmembrane protein OTM NA 8661061, 8797478 Standard NM_005602 NM_005602 NA Approved OSP uc003fgx.3 O75508 OTTHUMG00000158940 ENST00000064724.3:c.*510A>G chr3.hg19:g.170151054A>G NA B2R7C1|D3DNQ5|Q5U0P3 hg19 CCDS3213.1 0.02 5.247991 CCCxAGT COVERED NOVEL CLDN11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352403.1 33 10.230496 KEEP 0 0 0 34 1058 AA 0.999998 0.999998 0 + 8 60 270 0 1 16.577886 174 60 5115 341 ENST00000064724.3 0.043956 1 FNDC3B 64778 __UNKNOWN__ __UNKNOWN__ 3 171911750 171911750 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:171911750T>C ENST00000336824.4 + 4 286 FNDC3B_ENST00000415807.2_Intron|FNDC3B_ENST00000416957.1_Intron NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B NA NA cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) gtggctcacgtctgtaatccc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF543840 CCDS3217.1 3q26.31 2013-11-06 ENSG00000075420 ENSG00000075420 64778 Fibronectin type III domain containing 24670 protein-coding gene gene with protein product 611909 NA 15527760 Standard NM_022763 NM_022763 NA Approved FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421 uc003fhy.3 Q53EP0 OTTHUMG00000156761 ENST00000336824.4:c.188-32911T>C chr3.hg19:g.171911750T>C NA B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8 hg19 CCDS3217.1 0.02 -0.289401 ACGxCTG COVERED NOVEL FNDC3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345618.2 11 2.406608 KEEP 4 0 0 8 248 TT 0.99257 0.755234 0 + 3 60 105 0 0 7.744044 26 60 754 64 ENST00000336824.4 0.103448 0.760887 FNDC3B 64778 __UNKNOWN__ __UNKNOWN__ 3 172034080 172034080 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:172034080A>G ENST00000336824.4 + 11 1353 FNDC3B_ENST00000415807.2_Intron|FNDC3B_ENST00000416957.1_Intron NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B NA NA cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) gtgagccaccatgcccagccC 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF543840 CCDS3217.1 3q26.31 2013-11-06 ENSG00000075420 ENSG00000075420 64778 Fibronectin type III domain containing 24670 protein-coding gene gene with protein product 611909 NA 15527760 Standard NM_022763 NM_022763 NA Approved FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421 uc003fhy.3 Q53EP0 OTTHUMG00000156761 ENST00000336824.4:c.1254+5409A>G chr3.hg19:g.172034080A>G NA B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8 hg19 CCDS3217.1 0.02 3.677847 ACCxTGC COVERED NOVEL FNDC3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345618.2 12 7.05334 KEEP 0 1 21 31 962 AA 0.999997 0.999994 0 + 5 60 164 0 0 10.001132 103 60 3026 185 ENST00000336824.4 0.046296 0.999996 FNDC3B 64778 __UNKNOWN__ __UNKNOWN__ 3 172035004 172035004 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:172035004T>C ENST00000336824.4 + 11 1353 FNDC3B_ENST00000415807.2_Intron|FNDC3B_ENST00000416957.1_Intron|AC092964.1_ENST00000366261.2_Missense_Mutation_p.C17R NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B NA NA cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) gacagagtcttgctctgtcgc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF543840 CCDS3217.1 3q26.31 2013-11-06 ENSG00000075420 ENSG00000075420 64778 Fibronectin type III domain containing 24670 protein-coding gene gene with protein product 611909 NA 15527760 Standard NM_022763 NM_022763 NA Approved FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421 uc003fhy.3 Q53EP0 OTTHUMG00000156761 ENST00000336824.4:c.1254+6333T>C chr3.hg19:g.172035004T>C NA B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8 hg19 CCDS3217.1 0.02 7.186378 TCTxGCT COVERED . . . . . . . . . . T 0.005 -2.147996 0.00328 . . ENSG00000203443 ENST00000366261 T 0.46451 0.87 0.113 -0.226 0.13106 . . . . . T 0.22399 0.0540 . . . 0.09310 N 1 . . . . . . T 0.21552 -1.0242 5 0.22109 T 0.4 . . . . . . . . R 17 ENSP00000388733:C17R ENSP00000388733:C17R C + 1 0 AC092964.1 173517698 0.001000 0.12720 0.003000 0.11579 0.003000 0.03518 -2.564000 0.00918 -1.185000 0.02716 -1.185000 0.01705 TGC NOVEL FNDC3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345618.2 38 15.734675 KEEP 2 3 105 89 2737 TT 1 1 0 + 8 60 251 1 0 14.196606 201 60 5883 482 ENST00000336824.4 0.038278 1 FNDC3B 64778 __UNKNOWN__ __UNKNOWN__ 3 172051403 172051403 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:172051403T>G ENST00000336824.4 + 14 1740 FNDC3B_ENST00000415807.2_Intron|FNDC3B_ENST00000416957.1_Intron NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B NA NA cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) caaagtgctgtgattacaggc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF543840 CCDS3217.1 3q26.31 2013-11-06 ENSG00000075420 ENSG00000075420 64778 Fibronectin type III domain containing 24670 protein-coding gene gene with protein product 611909 NA 15527760 Standard NM_022763 NM_022763 NA Approved FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421 uc003fhy.3 Q53EP0 OTTHUMG00000156761 ENST00000336824.4:c.1641+438T>G chr3.hg19:g.172051403T>G NA B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8 hg19 CCDS3217.1 0.02 -0.394626 CTGxGAT COVERED NOVEL FNDC3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345618.2 11 2.407029 KEEP 4 0 0 8 245 TT 0.99257 0.919755 0 + 3 60 102 0 0 7.075486 35 60 1030 81 ENST00000336824.4 0.078947 0.92664 FNDC3B 64778 __UNKNOWN__ __UNKNOWN__ 3 172118578 172118578 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:172118578T>C ENST00000336824.4 + 0 7027 NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B NA NA cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) gacggagtcttgctctgtcgc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF543840 CCDS3217.1 3q26.31 2013-11-06 ENSG00000075420 ENSG00000075420 64778 Fibronectin type III domain containing 24670 protein-coding gene gene with protein product 611909 NA 15527760 Standard NM_022763 NM_022763 NA Approved FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421 uc003fhy.3 Q53EP0 OTTHUMG00000156761 ENST00000336824.4:c.*3313T>C chr3.hg19:g.172118578T>C NA B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8 hg19 CCDS3217.1 0.02 1.616971 TCTxGCT COVERED NOVEL FNDC3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345618.2 6 2.401615 KEEP 2 0 0 8 238 TT 0.99257 0.99234 0 + 6 60 175 0 0 11.299183 69 60 2038 108 ENST00000336824.4 0.08 0.999768 TNFSF10 8743 __UNKNOWN__ __UNKNOWN__ 3 172223618 172223618 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:172223618A>G ENST00000420541.2 - 0 1452 TNFSF10_ENST00000241261.2_3'UTR NM_001190942.1 NP_001177871.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) metal ion binding (GO:0046872)|receptor binding (GO:0005102) breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) ccgggttcaaacaattctctt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U37518 CCDS3219.1, CCDS54680.1 3q26 2006-09-20 ENSG00000121858 ENSG00000121858 8743 Tumor necrosis factor (ligand) superfamily, CD molecules 11925 protein-coding gene gene with protein product 603598 NA 8777713, 8663110 Standard NM_003810 NA Approved TRAIL, Apo-2L, TL2, CD253 uc003fid.3 P50591 OTTHUMG00000156917 ENST00000420541.2:c.*1056T>C chr3.hg19:g.172223618A>G NA A1Y9B3 hg19 CCDS54680.1 0.02 -0.403315 CAAxCAA COVERED NOVEL TNFSF10-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000346602.1 7 2.407396 KEEP 1 0 0 8 254 AA 0.99257 0.927549 0 - 4 60 135 0 0 9.590954 40 60 1138 64 ENST00000420541.2 0.090909 0.934492 TNFSF10 8743 __UNKNOWN__ __UNKNOWN__ 3 172223794 172223794 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:172223794T>C ENST00000420541.2 - 0 1276 TNFSF10_ENST00000241261.2_3'UTR NM_001190942.1 NP_001177871.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) metal ion binding (GO:0046872)|receptor binding (GO:0005102) breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) ggattacaggtgtgagccact 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U37518 CCDS3219.1, CCDS54680.1 3q26 2006-09-20 ENSG00000121858 ENSG00000121858 8743 Tumor necrosis factor (ligand) superfamily, CD molecules 11925 protein-coding gene gene with protein product 603598 NA 8777713, 8663110 Standard NM_003810 NA Approved TRAIL, Apo-2L, TL2, CD253 uc003fid.3 P50591 OTTHUMG00000156917 ENST00000420541.2:c.*880A>G chr3.hg19:g.172223794T>C NA A1Y9B3 hg19 CCDS54680.1 0.02 3.567168 AGGxGTG COVERED NOVEL TNFSF10-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000346602.1 6 3.309963 KEEP 0 0 0 11 342 TT 0.993072 0.993072 0 - 6 60 195 0 0 11.823155 124 60 3579 205 ENST00000420541.2 0.046154 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 172313024 172313024 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:172313024A>G NA NA RP11-408H1.3 (564 upstream) : NCEH1 (35014 downstream) NA NA NA caccatgttgaccaggctggt 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.172313024A>G NA hg19 0.02 -0.350279 TTGxCCA COVERED NOVEL 0 7 2.708097 KEEP 3 0 0 9 277 AA 0.99254 0.87116 0 4 60 124 0 0 8.762455 34 60 1003 64 0.105263 0.877708 NLGN1 22871 __UNKNOWN__ __UNKNOWN__ 3 173636165 173636165 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:173636165A>G ENST00000457714.1 + 4 1075 NLGN1_ENST00000545397.1_Intron|NLGN1_ENST00000401917.3_Intron|NLGN1_ENST00000361589.4_Intron|NLGN1-AS1_ENST00000423873.1_RNA|NLGN1-AS1_ENST00000457192.1_RNA NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 NA NA alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ggtggctcacacctgtaatcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028993 CCDS3222.1 3q26.32 2008-07-18 ENSG00000169760 ENSG00000169760 22871 14291 protein-coding gene gene with protein product 600568 NA 10767552, 10819331 Standard NM_014932 NM_014932 NA Approved KIAA1070 uc003fio.1 Q8N2Q7 OTTHUMG00000157005 ENST00000457714.1:c.646+110543A>G chr3.hg19:g.173636165A>G NA Q9UPT2 hg19 CCDS3222.1 0.02 -0.350822 CACxCCT COVERED NOVEL NLGN1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000347054.3 6 2.407149 KEEP 2 0 0 8 244 AA 0.99257 0.871187 0 + 3 60 101 0 0 6.975812 35 60 1057 79 ENST00000457714.1 0.078947 0.877708 NAALADL2 254827 __UNKNOWN__ __UNKNOWN__ 3 175433491 175433491 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:175433491T>C ENST00000454872.1 + 12 2024 NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 NA NA integral component of membrane (GO:0016021) central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) tggtgaaacctggtctctact 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46960.1 3q26.3 2011-08-16 ENSG00000177694 ENSG00000177694 254827 23219 protein-coding gene gene with protein product glutamate carboxypeptidase II-type non-peptidase homologue 608806 NA 15168106 Standard NM_207015 NM_207015 NA Approved uc003fir.3 Q58DX5 OTTHUMG00000157120 ENST00000454872.1:c.1897-21603T>C chr3.hg19:g.175433491T>C NA Q658X9|Q6H9J8|Q6H9J9|Q6PG38 hg19 CCDS46960.1 0.02 -0.228014 ACCxGGT COVERED NOVEL NAALADL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347390.2 3 2.705538 KEEP 0 0 0 9 273 TT 0.99254 0.578582 0 + 3 60 92 0 0 6.707285 21 60 611 41 ENST00000454872.1 0.125 0.58293 TBL1XR1 79718 __UNKNOWN__ __UNKNOWN__ 3 176865043 176865043 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:176865043C>G ENST00000430069.1 - 2 139 TBL1XR1_ENST00000457928.2_Intron Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 NA NA canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053) beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) ccctatgttgcccaggctggt 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022956 CCDS46961.1 3q26.33 2013-01-10 2008-01-17 ENSG00000177565 ENSG00000177565 79718 WD repeat domain containing 29529 protein-coding gene gene with protein product 608628 transducin (beta)-like 1X-linked receptor 1 NA 11063877, 11931768 Standard NM_024665 NM_024665 NA Approved IRA1, FLJ12894, TBLR1, C21, DC42 uc003fix.4 Q9BZK7 OTTHUMG00000157140 ENST00000430069.1:c.121-48714G>C chr3.hg19:g.176865043C>G NA D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1 hg19 CCDS46961.1 0.02 -0.298261 TTGxCCA COVERED NOVEL TBL1XR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347587.3 13 2.407906 KEEP 0 0 0 8 288 CC 0.99257 0.7943 0 - 4 60 133 0 0 9.917161 29 60 975 59 ENST00000430069.1 0.121212 0.800245 LINC00501 100820709 __UNKNOWN__ __UNKNOWN__ 3 177027592 177027592 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:177027592T>C ENST00000425388.1 + 0 56 NR_047465.1 long intergenic non-protein coding RNA 501 NA NA NA cctgtaatcctagcactttgg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK055528 3q26.32 2012-10-12 ENSG00000203645 ENSG00000203645 100820709 Long non-coding RNAs 43439 non-coding RNA RNA, long non-coding NA Standard NR_047465 NA Approved OTTHUMG00000157234 ENST00000425388.1: chr3.hg19:g.177027592T>C NA hg19 0.02 -0.342034 TCCxAGC COVERED NOVEL LINC00501-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000348097.1 7 2.708383 KEEP 1 0 0 9 287 TT 0.99254 0.859287 0 + 3 60 103 0 0 7.248745 33 60 954 74 ENST00000425388.1 0.083333 0.865745 RP11-91K9.1 0 __UNKNOWN__ __UNKNOWN__ 3 177602227 177602227 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:177602227T>C ENST00000436078.1 + 0 132 NA NA NA cgcctgtaattccagcacttt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000436078.1: chr3.hg19:g.177602227T>C NA hg19 0.02 1.680895 AATxCCA COVERED NOVEL RP11-91K9.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000348099.1 8 4.212827 KEEP 1 0 0 14 445 TT 0.995343 0.979578 0 + 4 60 130 0 0 8.720262 50 60 1465 112 ENST00000436078.1 0.074074 0.984161 ZNF639 51193 __UNKNOWN__ __UNKNOWN__ 3 179050190 179050190 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:179050190C>T ENST00000326361.3 + 6 614 ZNF639_ENST00000484866.1_Intron|ZNF639_ENST00000496856.1_Intron|ZNF639_ENST00000466663.1_Intron NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 NA NA negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718) nucleus (GO:0005634) metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) gtgggaggatcgcttgaggcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC020500 CCDS3227.1 3q27.1 2010-03-26 ENSG00000121864 ENSG00000121864 51193 Zinc fingers, C2H2-type 30950 protein-coding gene gene with protein product zinc finger amplified in esophageal squamous cell carcinomas 1 NA 14522885 Standard NM_016331 NM_016331 NA Approved ANC-2H01, ZASC1 uc003fjr.1 Q9UID6 OTTHUMG00000157439 ENST00000326361.3:c.170-587C>T chr3.hg19:g.179050190C>T NA A9X3Z9|D3DNR3 hg19 CCDS3227.1 0.02 -0.43858 GATxGCT COVERED NOVEL ZNF639-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348855.1 10 2.708488 KEEP 1 0 0 9 304 CC 0.99254 0.952699 0 + 4 60 111 0 0 7.000915 45 60 1451 91 ENST00000326361.3 0.081633 0.959859 MFN1 55669 __UNKNOWN__ __UNKNOWN__ 3 179105943 179105943 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:179105943T>C ENST00000471841.1 + 16 2138 MFN1_ENST00000263969.5_Intron|MFN1_ENST00000280653.7_Intron NM_033540.2 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 NA NA mitochondrial fusion (GO:0008053) integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) tcccaaagtgttgggatcaca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF054986 CCDS3228.1 3q26.32 2006-12-13 ENSG00000171109 ENSG00000171109 55669 18262 protein-coding gene gene with protein product 608506 NA 8358434, 11181170 Standard NM_017927 NM_033540 NA Approved FLJ20693 uc003fjs.3 Q8IWA4 OTTHUMG00000157385 ENST00000471841.1:c.2012+1526T>C chr3.hg19:g.179105943T>C NA B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2 hg19 CCDS3228.1 0.02 -0.245586 GTGxTGG COVERED NOVEL MFN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348654.2 6 2.407436 KEEP 0 0 0 8 259 TT 0.99257 0.636582 0 + 3 60 95 0 0 7.065241 20 60 603 50 ENST00000471841.1 0.130435 0.641347 MRPL47 57129 __UNKNOWN__ __UNKNOWN__ 3 179315512 179315512 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:179315512T>C ENST00000476781.1 - 4 432 MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Intron NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739) structural constituent of ribosome (GO:0003735) breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) aggagaatcgtttgaacccgg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF285120 CCDS3232.1, CCDS3233.1 3q26.33 2012-11-14 ENSG00000136522 ENSG00000136522 57129 Mitochondrial ribosomal proteins / large subunits 16652 protein-coding gene gene with protein product nasopharyngeal carcinoma metastasis-related 1 611852 NA 11551941 Standard NM_020409 NM_177988 NA Approved CGI-204, NCM1 uc003fjz.3 Q9HD33 OTTHUMG00000157784 ENST00000476781.1:c.402+950A>G chr3.hg19:g.179315512T>C NA Q6XRG1|Q8N5D1 hg19 CCDS3232.1 0.02 -0.210447 TCGxTTG COVERED NOVEL MRPL47-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349623.1 8 2.704287 KEEP 1 0 0 9 254 TT 0.99254 0.518266 0 - 3 60 97 0 0 7.266077 20 60 579 44 ENST00000476781.1 0.130435 0.522161 NDUFB5 4711 __UNKNOWN__ __UNKNOWN__ 3 179328160 179328160 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:179328160A>C ENST00000259037.3 + 2 238 NDUFB5_ENST00000493866.1_Intron|NDUFB5_ENST00000473500.1_Intron|NDUFB5_ENST00000472629.1_Intron NM_002492.3 NP_002483.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634) NADH dehydrogenase (ubiquinone) activity (GO:0008137) endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) ggattacaggaatgagccacc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF047181 CCDS3234.1, CCDS56297.1, CCDS75054.1 3q27.1 2011-07-04 2002-08-29 ENSG00000136521 ENSG00000136521 4711 Mitochondrial respiratory chain complex / Complex I 7700 protein-coding gene gene with protein product complex I SGDH subunit 603841 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH) NA 9425316 Standard NM_002492 NM_002492 NA Approved SGDH, CI-SGDH, MGC12314 uc003fkc.3 O43674 OTTHUMG00000157480 ENST00000259037.3:c.125-4599A>C chr3.hg19:g.179328160A>C NA Q561V6 hg19 CCDS3234.1 0.02 -0.350726 AGGxATG COVERED NOVEL NDUFB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348937.2 10 2.692624 KEEP 0 0 0 9 263 AT 0.993072 0.871627 0 + 3 59 97 0 0 6.688505 32 60 890 68 ENST00000259037.3 0.085714 0.877708 NDUFB5 4711 __UNKNOWN__ __UNKNOWN__ 3 179344573 179344573 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:179344573T>C ENST00000493866.1 + 0 3184 NM_001199957.1 NP_001186886.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634) NADH dehydrogenase (ubiquinone) activity (GO:0008137) endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) cccaccttggtctcccaaagt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047181 CCDS3234.1, CCDS56297.1, CCDS75054.1 3q27.1 2011-07-04 2002-08-29 ENSG00000136521 ENSG00000136521 4711 Mitochondrial respiratory chain complex / Complex I 7700 protein-coding gene gene with protein product complex I SGDH subunit 603841 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH) NA 9425316 Standard NM_002492 NM_002492 NA Approved SGDH, CI-SGDH, MGC12314 uc003fkc.3 O43674 OTTHUMG00000157480 ENST00000493866.1:c.*2745T>C chr3.hg19:g.179344573T>C NA Q561V6 hg19 CCDS56297.1 0.02 1.652213 TGGxCTC COVERED NOVEL NDUFB5-002 NOVEL basic|CCDS protein_coding NA protein_coding OTTHUMT00000348938.1 15 3.142637 KEEP 0 1 30 21 637 TT 0.999879 0.999501 0 + 8 60 257 0 0 18.439469 68 60 1887 140 ENST00000493866.1 0.105263 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 179949456 179949456 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:179949456T>A NA NA RNA5SP149 (69691 upstream) : RP11-420J11.2 (182505 downstream) NA NA NA caggaggcagtggttgcattg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.179949456T>A NA hg19 0.02 -0.324355 CAGxGGT COVERED NOVEL 0 4 3.911118 KEEP 0 0 0 13 385 TT 0.994391 0.831028 0 5 60 138 0 0 10.095781 28 60 749 58 0.151515 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 179949464 179949464 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:179949464T>G NA NA RNA5SP149 (69699 upstream) : RP11-420J11.2 (182497 downstream) NA NA NA agtggttgcattgagccgaga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.179949464T>G NA hg19 0.02 -0.394528 GCAxTGA COVERED NOVEL 0 4 3.609564 KEEP 0 0 0 12 348 TT 0.993634 0.920741 0 4 60 134 0 0 9.575409 38 60 1024 63 0.095238 0.92664 CCDC39 339829 __UNKNOWN__ __UNKNOWN__ 3 180432624 180432624 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:180432624A>C ENST00000485055.1 - 12 1458 CCDC39_ENST00000273654.4_Intron Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 NA NA axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324) axoneme (GO:0005930)|cytoskeleton (GO:0005856) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) gctgggattaaaggcgtgagc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047103 CCDS46964.1 3q26.33 2012-07-27 ENSG00000145075 ENSG00000145075 339829 25244 protein-coding gene gene with protein product 613798 NA 21131972 Standard XM_291028 NM_181426 NA Approved DKFZp434A128, CILD14, FAP59 uc010hxe.3 Q9UFE4 OTTHUMG00000157857 ENST00000485055.1:c.1417-3454T>G chr3.hg19:g.180432624A>C NA B4E2H1 hg19 0.02 -0.254345 TTAxAGG COVERED NOVEL CCDC39-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000349890.1 5 2.708157 KEEP 2 0 0 9 284 AA 0.99257 0.663556 0 - 3 60 101 0 0 7.442534 24 60 705 63 ENST00000485055.1 0.111111 0.668523 FXR1 8087 __UNKNOWN__ __UNKNOWN__ 3 180646944 180646944 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:180646944T>C ENST00000357559.4 + 2 435 FXR1_ENST00000468861.1_Intron|FXR1_ENST00000305586.7_Intron|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000480918.1_Intron|FXR1_ENST00000445140.2_Intron NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 NA NA apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148) costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844) G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) ttgcctgccttggcctcccaa 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M67468 CCDS3238.1, CCDS33894.1, CCDS46965.1 3q28 2014-01-28 ENSG00000114416 ENSG00000114416 8087 4023 protein-coding gene gene with protein product 600819 NA 7781595, 9642279 Standard NM_005087 NA Approved uc003fkq.3 P51114 OTTHUMG00000158138 ENST00000357559.4:c.52-4178T>C chr3.hg19:g.180646944T>C NA A8K9B8|Q7Z450|Q8N6R8 hg19 CCDS3238.1 0.02 -0.420934 CCTxGGC COVERED NOVEL FXR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350265.5 8 2.407439 KEEP 2 0 0 8 254 AT 0.99254 0.941327 0 + 4 60 127 0 0 8.710572 42 60 1216 87 ENST00000357559.4 0.086957 0.948402 MCF2L2 23101 __UNKNOWN__ __UNKNOWN__ 3 183010143 183010143 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:183010143A>G ENST00000328913.3 - 13 1973 MCF2L2_ENST00000414362.2_Intron|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 NA NA Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) aggagttcgaaacctgcctgg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020668 CCDS3243.1 3q27 2012-07-24 ENSG00000053524 ENSG00000053524 23101 Rho guanine nucleotide exchange factors 30319 protein-coding gene gene with protein product NA Standard NM_015078 NM_015078 NA Approved KIAA0861, ARHGEF22 uc003fli.1 Q86YR7 OTTHUMG00000158388 ENST00000328913.3:c.1675+2944T>C chr3.hg19:g.183010143A>G NA O94942|Q6P2B8|Q6ZVJ5|Q8N318 hg19 CCDS3243.1 0.02 -0.368166 CGAxACC COVERED NOVEL MCF2L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350868.1 10 2.407237 KEEP 0 0 0 8 252 AA 0.99257 0.892632 0 - 3 60 96 0 0 6.408893 37 60 1084 75 ENST00000328913.3 0.075 0.899314 KLHL24 54800 __UNKNOWN__ __UNKNOWN__ 3 183390380 183390380 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:183390380T>C ENST00000454652.2 + 8 1988 KLHL24_ENST00000242810.6_Intron|KLHL24_ENST00000476808.1_3'UTR NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 NA NA cell projection (GO:0042995)|cytoplasm (GO:0005737) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) Aggctgggcgtggtggctcac 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3246.1 3q27.1 2013-02-22 2013-02-22 ENSG00000114796 ENSG00000114796 54800 Kelch-like, BTB/POZ domain containing 25947 protein-coding gene gene with protein product 611295 kelch-like 24 (Drosophila) NA Standard NM_017644 XM_005247552 NA Approved DRE1, FLJ20059 uc003flv.3 Q6TFL4 OTTHUMG00000156911 ENST00000454652.2:c.1602+108T>C chr3.hg19:g.183390380T>C NA A5PLN8|Q9H620|Q9NXT9 hg19 CCDS3246.1 0.02 7.929397 GCGxGGT COVERED NOVEL KLHL24-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346586.2 46 26.178596 KEEP 2 0 0 87 2724 TT 1 1 0 + 7 60 251 1 0 15.510734 178 60 5312 426 ENST00000454652.2 0.037838 1 KLHL24 54800 __UNKNOWN__ __UNKNOWN__ 3 183390391 183390391 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:183390391G>A ENST00000454652.2 + 8 1988 KLHL24_ENST00000242810.6_Intron|KLHL24_ENST00000476808.1_3'UTR NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 NA NA cell projection (GO:0042995)|cytoplasm (GO:0005737) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) ggtggctcacgcctgtaatcc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3246.1 3q27.1 2013-02-22 2013-02-22 ENSG00000114796 ENSG00000114796 54800 Kelch-like, BTB/POZ domain containing 25947 protein-coding gene gene with protein product 611295 kelch-like 24 (Drosophila) NA Standard NM_017644 XM_005247552 NA Approved DRE1, FLJ20059 uc003flv.3 Q6TFL4 OTTHUMG00000156911 ENST00000454652.2:c.1602+119G>A chr3.hg19:g.183390391G>A NA A5PLN8|Q9H620|Q9NXT9 hg19 CCDS3246.1 0.02 3.823499 CACxCCT COVERED NOVEL KLHL24-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346586.2 40 9.367723 KEEP 2 4 119 73 2545 GG 1 1 0 + 7 60 200 1 0 10.540894 172 60 5657 383 ENST00000454652.2 0.039106 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 183844761 183844761 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:183844761T>G NA NA HTR3E (19978 upstream) : RP11-778D9.13 (5968 downstream) NA NA NA ccagcacttttggaggctgag 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.183844761T>G NA hg19 0.02 -0.280367 TTTxGGA COVERED NOVEL 0 6 2.406741 KEEP 0 0 0 8 243 TT 0.99257 0.734176 0 4 60 138 0 1 10.793438 23 60 638 60 0.148148 0.739671 DVL3 1857 __UNKNOWN__ __UNKNOWN__ 3 183890261 183890261 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:183890261T>C ENST00000313143.3 + 0 4117 EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 NA NA canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) cell cortex (GO:0005938) beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) gtggctcacgtctgtaatccc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D86963 CCDS3253.1 3q27 2013-05-22 2013-05-22 ENSG00000161202 ENSG00000161202 1857 Dishevelled homologs 3087 protein-coding gene gene with protein product 601368 dishevelled 3 (homologous to Drosophila dsh), dishevelled, dsh homolog 3 (Drosophila) NA 8817329 Standard NM_004423 NM_004423 NA Approved KIAA0208 uc003fms.3 Q92997 OTTHUMG00000156841 ENST00000313143.3:c.*1718T>C chr3.hg19:g.183890261T>C NA B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607 hg19 CCDS3253.1 0.02 1.780399 ACGxCTG COVERED NOVEL DVL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346184.1 8 3.911911 KEEP 1 0 0 13 421 TT 0.994391 0.978641 0 + 4 60 136 0 0 9.35284 49 60 1405 91 ENST00000313143.3 0.075472 0.984161 DVL3 1857 __UNKNOWN__ __UNKNOWN__ 3 183890509 183890509 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:183890509T>C ENST00000313143.3 + 0 4365 EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 NA NA canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) cell cortex (GO:0005938) beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) cagagtgagattctgtctcaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D86963 CCDS3253.1 3q27 2013-05-22 2013-05-22 ENSG00000161202 ENSG00000161202 1857 Dishevelled homologs 3087 protein-coding gene gene with protein product 601368 dishevelled 3 (homologous to Drosophila dsh), dishevelled, dsh homolog 3 (Drosophila) NA 8817329 Standard NM_004423 NM_004423 NA Approved KIAA0208 uc003fms.3 Q92997 OTTHUMG00000156841 ENST00000313143.3:c.*1966T>C chr3.hg19:g.183890509T>C NA B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607 hg19 CCDS3253.1 0.02 3.850802 AGAxTCT COVERED NOVEL DVL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346184.1 6 2.475003 KEEP 0 2 74 34 1006 TT 0.999999 0.999997 0 + 6 60 204 2 0 13.133142 105 60 3072 196 ENST00000313143.3 0.054054 0.999998 ALG3 10195 __UNKNOWN__ __UNKNOWN__ 3 183961723 183961723 __UNKNOWN__ Missense_Mutation SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:183961723T>A ENST00000455059.1 - 6 1122 c.668A>T c.(667-669)gAc>gTc p.D223V EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Missense_Mutation_p.D263V|ALG3_ENST00000445626.2_Missense_Mutation_p.D215V|ALG3_ENST00000418734.2_Missense_Mutation_p.D207V|ALG3_ENST00000463495.1_5'UTR Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 263 NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925) kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCGGCCAAGGTCAAAGGAGCG 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 39 46 44 NA NA NA 3 NA NA 183961723 1979 4139 6118 SO:0001583 missense BC002839 CCDS46967.1, CCDS46968.1 3q27.3 2013-02-26 2013-02-26 ENSG00000214160 ENSG00000214160 10195 2.4.1.258 Dolichyl D-mannosyl phosphate dependent mannosyltransferases 23056 protein-coding gene gene with protein product carbohydrate deficient glycoprotein syndrome type IV, dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase, dol-P-Man dependent alpha-1,3- mannosyltransferase 608750 asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase), asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) NA 1058125 Standard NM_005787 NM_005787 NA Approved NOT56L, Not56, CDGS4, D16Ertd36e uc003fne.2 Q92685 OTTHUMG00000156823 ENST00000455059.1:c.668A>T chr3.hg19:g.183961723T>A ENSP00000397613:p.Asp223Val NA A8JZZ6|Q9BT71 hg19 0.02 4.593504 AGGxCAA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 26.2|26.2 4.712921|4.712921 0.89112|0.89112 .|. .|. ENSG00000214160|ENSG00000214160 ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059|ENST00000446569 D;D;D;D|. 0.88896|. -2.44;-2.44;-2.44;-2.44|. 5.58|5.58 5.58|5.58 0.84498|0.84498 .|. 0.000000|. 0.85682|. U|. 0.000000|. D|. 0.84220|. 0.5424|. M|M 0.91612|0.91612 3.225|3.225 0.80722|0.80722 D|D 1|1 D;D;D;D|. 0.89917|. 0.999;1.0;0.999;1.0|. D;D;D;D|. 0.81914|. 0.981;0.991;0.991;0.995|. D|. 0.87894|. 0.2686|. 10|. 0.87932|. D|. 0|. -14.7125|-14.7125 14.9246|14.9246 0.70866|0.70866 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. 215;207;223;263|. A8JZZ6;B4DS50;C9J7S5;Q92685|. .;.;.;ALG3_HUMAN|. V|C 207;263;215;223|166 ENSP00000402976:D207V;ENSP00000380793:D263V;ENSP00000402744:D215V;ENSP00000397613:D223V|. ENSP00000380793:D263V|. D|X -|- 2|3 0|0 ALG3|ALG3 185444417|185444417 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.985000|0.985000 0.73830|0.73830 8.005000|8.005000 0.88553|0.88553 2.126000|2.126000 0.65437|0.65437 0.454000|0.454000 0.30748|0.30748 GAC|TGA NOVEL ALG3-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000346035.1 1 14.737909 KEEP 0 0 0 49 1505 TT 1 1 0 - 101 60 2918 0 0 286.743813 78 60 2283 328 ENST00000455059.1 0.564246 1 EHHADH 1962 __UNKNOWN__ __UNKNOWN__ 3 184912195 184912195 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:184912195T>G ENST00000456310.1 - 7 1059 EHHADH_ENST00000231887.3_Intron Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase NA NA fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777) 3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) gaggtcaggatttcaagacca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L07077 CCDS33901.1, CCDS54694.1 3q26.3-q28 2012-07-13 2010-04-30 ENSG00000113790 ENSG00000113790 1962 4.2.1.17, 1.1.1.35, 5.3.3.8 3247 protein-coding gene gene with protein product 607037 enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase ECHD NA 8188243 Standard NM_001966 NA Approved uc003fpf.3 Q08426 OTTHUMG00000156698 ENST00000456310.1:c.623-920A>C chr3.hg19:g.184912195T>G NA A8K6Y3|B4DWG3|D3DNU0|Q58EZ5 hg19 CCDS54694.1 0.02 -0.175425 GGAxTTC COVERED NOVEL EHHADH-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345327.1 11 2.708539 KEEP 1 0 0 9 296 TT 0.99257 0.384528 0 - 4 60 128 0 0 10.568431 14 60 432 38 ENST00000456310.1 0.222222 0.387407 MAP3K13 9175 __UNKNOWN__ __UNKNOWN__ 3 185049110 185049110 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:185049110C>T ENST00000424227.1 + 2 170 MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000446828.1_Intron NM_001242314.1 NP_001229243.1 mitogen-activated protein kinase kinase kinase 13 NA NA NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) ctcgaactcccgacctcaggt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031677 CCDS3270.1, CCDS56298.1 3q27 2011-06-09 ENSG00000073803 ENSG00000073803 9175 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6852 protein-coding gene gene with protein product leucine zipper-bearing kinase 604915 NA 9353328 Standard NM_004721 NM_004721 NA Approved LZK, MEKK13 uc003fpi.3 O43283 OTTHUMG00000156673 ENST00000424227.1:c.-86+45679C>T chr3.hg19:g.185049110C>T NA hg19 CCDS3270.1 0.02 -0.192973 TCCxGAC COVERED NOVEL MAP3K13-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345270.1 6 2.708714 KEEP 1 0 0 9 309 CC 0.99254 0.454342 0 + 4 60 111 0 0 8.569599 17 60 564 53 ENST00000424227.1 0.190476 0.457757 MAP3K13 9175 __UNKNOWN__ __UNKNOWN__ 3 185132697 185132697 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:185132697T>C ENST00000265026.3 + 2 249 MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Intron NM_004721.4 NP_004712.1 mitogen-activated protein kinase kinase kinase 13 NA NA NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) tggtggctcatgcctgtaatc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031677 CCDS3270.1, CCDS56298.1 3q27 2011-06-09 ENSG00000073803 ENSG00000073803 9175 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6852 protein-coding gene gene with protein product leucine zipper-bearing kinase 604915 NA 9353328 Standard NM_004721 NM_004721 NA Approved LZK, MEKK13 uc003fpi.3 O43283 OTTHUMG00000156673 ENST00000265026.3:c.-85-13588T>C chr3.hg19:g.185132697T>C NA hg19 CCDS3270.1 0.02 -0.333193 TCAxGCC COVERED NOVEL MAP3K13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345268.1 7 2.708018 KEEP 1 0 0 9 279 TT 0.99257 0.845654 0 + 4 60 124 0 0 9.019439 29 60 809 64 ENST00000265026.3 0.121212 0.851984 MAP3K13 9175 __UNKNOWN__ __UNKNOWN__ 3 185201782 185201782 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:185201782C>G ENST00000265026.3 + 0 4773 TMEM41A_ENST00000475480.1_Intron NM_004721.4 NP_004712.1 mitogen-activated protein kinase kinase kinase 13 NA NA NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) ttacaggcatcagccactgtg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC031677 CCDS3270.1, CCDS56298.1 3q27 2011-06-09 ENSG00000073803 ENSG00000073803 9175 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6852 protein-coding gene gene with protein product leucine zipper-bearing kinase 604915 NA 9353328 Standard NM_004721 NM_004721 NA Approved LZK, MEKK13 uc003fpi.3 O43283 OTTHUMG00000156673 ENST00000265026.3:c.*1538C>G chr3.hg19:g.185201782C>G NA hg19 CCDS3270.1 0.02 3.766073 CATxAGC COVERED NOVEL MAP3K13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345268.1 12 7.059122 KEEP 0 1 36 36 1278 CC 1 1 0 + 5 60 174 0 0 10.764301 115 60 3778 230 ENST00000265026.3 0.041667 1 TMEM41A 90407 __UNKNOWN__ __UNKNOWN__ 3 185209075 185209075 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:185209075C>T ENST00000296254.3 - 0 769 TMEM41A_ENST00000421852.1_3'UTR|TMEM41A_ENST00000475480.1_Intron Q96HV5 TM41A_HUMAN transmembrane protein 41A NA NA integral component of membrane (GO:0016021) large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) tgagccaccgcgcccggccAC 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC019884 CCDS3271.1 3q27.2 2006-04-12 ENSG00000163900 ENSG00000163900 90407 30544 protein-coding gene gene with protein product NA 12975309 Standard NM_080652 NM_080652 NA Approved MGC15397 uc003fpj.2 Q96HV5 OTTHUMG00000156660 ENST00000296254.3:c.*465G>A chr3.hg19:g.185209075C>T NA A8K4B3|D3DNU2|Q6ZMJ0 hg19 0.02 1.236706 CCGxGCC COVERED NOVEL TMEM41A-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000345178.1 8 6.320401 KEEP 0 0 0 21 740 CC 0.999869 0.999547 0 - 5 60 149 0 0 9.145438 76 60 2532 148 ENST00000296254.3 0.061728 0.999678 LIPH 200879 __UNKNOWN__ __UNKNOWN__ 3 185241709 185241709 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:185241709T>C ENST00000424591.2 - 4 703 LIPH_ENST00000296252.4_Intron Q8WWY8 LIPH_HUMAN lipase, member H NA NA lipid catabolic process (GO:0016042) extracellular space (GO:0005615)|plasma membrane (GO:0005886) heparin binding (GO:0008201)|phospholipase activity (GO:0004620) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) ggggtttcactatgttggcca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY093498 CCDS3272.1 3q27 2012-07-31 ENSG00000163898 ENSG00000163898 200879 18483 protein-coding gene gene with protein product 607365 NA 12213196, 12063250 Standard XM_006713529 NA Approved mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR uc003fpm.3 Q8WWY8 OTTHUMG00000156657 ENST00000424591.2:c.616+149A>G chr3.hg19:g.185241709T>C NA A2IBA7|Q8TEC7 hg19 0.02 -0.342022 CACxATG COVERED NOVEL LIPH-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000345154.1 4 2.40683 KEEP 0 0 0 8 241 TT 0.99257 0.871187 0 - 4 60 120 0 0 8.459664 32 60 928 57 ENST00000424591.2 0.111111 0.877708 LIPH 200879 __UNKNOWN__ __UNKNOWN__ 3 185241758 185241758 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:185241758T>C ENST00000424591.2 - 4 703 LIPH_ENST00000296252.4_Intron Q8WWY8 LIPH_HUMAN lipase, member H NA NA lipid catabolic process (GO:0016042) extracellular space (GO:0005615)|plasma membrane (GO:0005886) heparin binding (GO:0008201)|phospholipase activity (GO:0004620) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) gatccacccgtctcggcctcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY093498 CCDS3272.1 3q27 2012-07-31 ENSG00000163898 ENSG00000163898 200879 18483 protein-coding gene gene with protein product 607365 NA 12213196, 12063250 Standard XM_006713529 NA Approved mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR uc003fpm.3 Q8WWY8 OTTHUMG00000156657 ENST00000424591.2:c.616+100A>G chr3.hg19:g.185241758T>C NA A2IBA7|Q8TEC7 hg19 0.02 1.818529 CCGxCTC COVERED NOVEL LIPH-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000345154.1 11 2.707777 KEEP 1 0 0 9 268 TT 0.99254 0.98629 0 - 5 60 175 0 0 12.452305 54 60 1572 104 ENST00000424591.2 0.084746 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 185677153 185677153 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:185677153T>C NA NA TRA2B (21229 upstream) : RP11-443P15.2 (578 downstream) NA NA NA gcaggagaattgcttgaaccc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.185677153T>C NA hg19 0.02 -0.315645 AATxGCT COVERED NOVEL 0 8 2.405629 KEEP 0 0 0 8 217 TT 0.99257 0.812384 0 4 60 122 0 0 8.935032 27 60 730 51 0.129032 0.818465 DGKG 1608 __UNKNOWN__ __UNKNOWN__ 3 185867798 185867798 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:185867798A>T ENST00000265022.3 - 0 2996 DGKG_ENST00000447054.1_Intron|DGKG_ENST00000544847.1_3'UTR|DGKG_ENST00000382164.4_3'UTR|DGKG_ENST00000344484.4_3'UTR NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) tgcatgtgtgagtgtgCACAT 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF020945 CCDS3274.1, CCDS43181.1, CCDS43182.1 3q27-q28 2013-01-10 2002-08-29 ENSG00000058866 ENSG00000058866 1608 2.7.1.107 EF-hand domain containing 2853 protein-coding gene gene with protein product 601854 diacylglycerol kinase, gamma (90kD) DAGK3 NA 8034597 Standard NM_001080744 NA Approved uc003fqa.3 P49619 OTTHUMG00000156617 ENST00000265022.3:c.*81T>A chr3.hg19:g.185867798A>T NA B2RAH4|Q2M1H4|Q5FWG1 hg19 CCDS3274.1 0.02 4.221588 GTGxGTG COVERED NOVEL DGKG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344800.3 21 10.350431 KEEP 0 1 30 45 1399 AA 1 1 0 - 8 60 221 1 1 12.343607 144 60 4311 280 ENST00000265022.3 0.052632 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 186142530 186142530 __UNKNOWN__ IGR SNP T T C rs9883357 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:186142530T>C NA NA DGKG (62504 upstream) : RP11-78H24.1 (15638 downstream) NA NA NA tggtggctcatgcctgtaatc 0.542 NA t||| 2627 0.524561 0.9175 0.4265 5008 , , NA 13373 0.2937 NA 0.5477 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.186142530T>C NA hg19 0.02 -0.228013 TCAxGCC COVERED NOVEL 0 4 2.406596 KEEP 1 0 0 8 237 TT 0.99257 0.578599 0 4 60 121 0 1 9.163452 22 60 638 51 0.153846 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 186493409 186493409 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:186493409A>G NA NA RNU6-1105P (3673 upstream) : RP11-573D15.9 (6159 downstream) NA NA NA agagtgctggaattacaggcg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.186493409A>G NA hg19 0.02 -0.298129 TGGxATT COVERED NOVEL 0 7 3.008132 KEEP 0 0 0 10 301 AA 0.992708 0.775364 0 3 60 96 0 1 6.710426 29 60 809 60 0.09375 0.78106 ST6GAL1 6480 __UNKNOWN__ __UNKNOWN__ 3 186707865 186707865 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:186707865T>A ENST00000169298.3 + 2 492 ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 NA NA cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) tctgtcgccctggctggagtg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X62822 CCDS3285.1, CCDS46973.1 3q27-q28 2013-02-26 2003-01-14 2005-02-07 ENSG00000073849 ENSG00000073849 6480 2.4.99.1 10860 protein-coding gene gene with protein product ST6Gal I 109675 sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase) SIAT1 NA 2408023 Standard NM_173216 NM_003032 NA Approved uc003frd.3 P15907 OTTHUMG00000156500 ENST00000169298.3:c.-183+26151T>A chr3.hg19:g.186707865T>A NA A8KA14|B2R513|D3DNV3 hg19 CCDS3285.1 0.02 -0.175416 CCCxGGC COVERED NOVEL ST6GAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344399.1 2 3.009183 KEEP 0 0 0 10 314 TT 0.992708 0.384582 0 + 3 60 93 0 0 7.133632 16 60 481 45 ENST00000169298.3 0.157895 0.387407 MASP1 5648 __UNKNOWN__ __UNKNOWN__ 3 187009690 187009690 __UNKNOWN__ 5'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:187009690C>T ENST00000392472.2 - 0 75 MASP1_ENST00000169293.6_5'UTR|MASP1_ENST00000337774.5_5'UTR P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) NA NA complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916) extracellular region (GO:0005576)|extracellular space (GO:0005615) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ACAACAAAATCTGTCTTCCTA 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D28593 CCDS33907.1, CCDS33908.1, CCDS33909.1 3q27-q28 2014-09-17 2005-08-17 ENSG00000127241 ENSG00000127241 5648 Serine peptidases / Serine peptidases 6901 protein-coding gene gene with protein product 600521 mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor) CRARF, PRSS5 NA 8018603, 8240317 Standard NM_001879 NR_033519 NA Approved MASP uc003fri.3 P48740 OTTHUMG00000156461 ENST00000392472.2:c.-377G>A chr3.hg19:g.187009690C>T NA A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09 hg19 0.02 5.936692 AATxTGT COVERED NOVEL MASP1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344266.2 21 38.825539 KEEP 0 0 0 129 4589 CC 1 1 0 - 17 60 471 0 0 30.969066 161 60 5456 471 ENST00000392472.2 0.095506 1 LPP 4026 __UNKNOWN__ __UNKNOWN__ 3 187978554 187978554 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:187978554T>C ENST00000312675.4 + 2 237 LPP_ENST00000543006.1_Intron|LPP_ENST00000448637.1_Intron NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) ggcgcggtggttcacgcctgt 0.517 NA T HMGA2, MLL, C12orf9 lipoma, leukemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 3 3q28 4026 LIM domain containing preferred translocation partner in lipoma L, M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833171 CCDS3291.1 3q27-q28 2004-03-02 2002-01-14 ENSG00000145012 ENSG00000145012 4026 6679 protein-coding gene gene with protein product 600700 LIM domain-containing preferred translocation partner in lipoma NA 8812423 Standard NM_005578 XM_005247453 NA Approved uc003frs.2 Q93052 OTTHUMG00000156387 ENST00000312675.4:c.-10+35239T>C chr3.hg19:g.187978554T>C NA A1L4L6|D3DNV6|Q8NFX5 hg19 CCDS3291.1 0.02 -0.438477 TGGxTCA COVERED NOVEL LPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344030.1 10 2.407315 KEEP 0 0 0 8 252 TT 0.99257 0.952727 0 + 4 60 141 0 0 10.556672 32 60 943 86 ENST00000312675.4 0.111111 0.959859 LPP 4026 __UNKNOWN__ __UNKNOWN__ 3 188426638 188426638 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:188426638A>G ENST00000312675.4 + 7 1486 LPP_ENST00000543006.1_Intron|LPP_ENST00000471917.1_Intron|LPP_ENST00000448637.1_3'UTR NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) tccagcctggacaacagagtg 0.448 NA T HMGA2, MLL, C12orf9 lipoma, leukemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 3 3q28 4026 LIM domain containing preferred translocation partner in lipoma L, M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833171 CCDS3291.1 3q27-q28 2004-03-02 2002-01-14 ENSG00000145012 ENSG00000145012 4026 6679 protein-coding gene gene with protein product 600700 LIM domain-containing preferred translocation partner in lipoma NA 8812423 Standard NM_005578 XM_005247453 NA Approved uc003frs.2 Q93052 OTTHUMG00000156387 ENST00000312675.4:c.1240+457A>G chr3.hg19:g.188426638A>G NA A1L4L6|D3DNV6|Q8NFX5 hg19 CCDS3291.1 0.02 -0.280649 TGGxCAA COVERED NOVEL LPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344030.1 5 2.406539 KEEP 0 0 0 8 232 AA 0.99257 0.734176 0 + 3 60 107 0 0 7.992042 25 60 727 52 ENST00000312675.4 0.107143 0.739671 LPP 4026 __UNKNOWN__ __UNKNOWN__ 3 188598909 188598909 __UNKNOWN__ 3'UTR SNP A A C rs75333195 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:188598909A>C ENST00000312675.4 + 0 8727 LPP_ENST00000543006.1_3'UTR NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) gcctgggcgaaagagcgagac 0.493 NA T HMGA2, MLL, C12orf9 lipoma, leukemia A||| 130 0.0259585 0.031 0.0216 5008 , , NA 9933 0.001 NA 0.0457 False NA ,,, NA NA NA 2504 0.0276 NA NA NA Dom yes 3 3q28 4026 LIM domain containing preferred translocation partner in lipoma L, M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL833171 CCDS3291.1 3q27-q28 2004-03-02 2002-01-14 ENSG00000145012 ENSG00000145012 4026 6679 protein-coding gene gene with protein product 600700 LIM domain-containing preferred translocation partner in lipoma NA 8812423 Standard NM_005578 XM_005247453 NA Approved uc003frs.2 Q93052 OTTHUMG00000156387 ENST00000312675.4:c.*6642A>C chr3.hg19:g.188598909A>C NA A1L4L6|D3DNV6|Q8NFX5 hg19 CCDS3291.1 0.02 3.63732 CGAxAGA COVERED NOVEL LPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344030.1 7 20.76274 KEEP 2 0 0 69 2189 AA 1 1 0 + 5 60 173 0 0 10.858422 105 60 3059 223 ENST00000312675.4 0.045455 1 LPP 4026 __UNKNOWN__ __UNKNOWN__ 3 188601329 188601329 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:188601329T>C ENST00000312675.4 + 0 11147 LPP_ENST00000543006.1_3'UTR NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) accatcctggtcaacatggtg 0.562 NA T HMGA2, MLL, C12orf9 lipoma, leukemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 3 3q28 4026 LIM domain containing preferred translocation partner in lipoma L, M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL833171 CCDS3291.1 3q27-q28 2004-03-02 2002-01-14 ENSG00000145012 ENSG00000145012 4026 6679 protein-coding gene gene with protein product 600700 LIM domain-containing preferred translocation partner in lipoma NA 8812423 Standard NM_005578 XM_005247453 NA Approved uc003frs.2 Q93052 OTTHUMG00000156387 ENST00000312675.4:c.*9062T>C chr3.hg19:g.188601329T>C NA A1L4L6|D3DNV6|Q8NFX5 hg19 CCDS3291.1 0.02 -0.262854 TGGxCAA COVERED NOVEL LPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344030.1 1 2.407549 KEEP 0 0 0 8 260 TT 0.99257 0.688515 0 + 3 60 94 0 0 6.599979 27 60 773 43 ENST00000312675.4 0.1 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 189926797 189926797 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:189926797G>A NA NA RNU6-1109P (43485 upstream) : CLDN1 (96692 downstream) NA NA NA ggtggctcacgcctgtaatcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.189926797G>A NA hg19 0.02 -0.245421 CACxCCT COVERED NOVEL 0 5 3.009636 KEEP 0 0 0 10 341 GG 0.992708 0.63667 0 4 60 118 0 0 8.937832 21 60 655 55 0.16 0.641347 IL1RAP 3556 __UNKNOWN__ __UNKNOWN__ 3 190375737 190375737 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:190375737A>G ENST00000317757.3 + 0 3611 NM_001167931.1 NP_001161403.1 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein NA NA immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) ccagctactcaggaggctgag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB006537 CCDS3298.1, CCDS46982.1, CCDS54696.1 3q28 2013-01-11 ENSG00000196083 ENSG00000196083 3556 Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5995 protein-coding gene gene with protein product 602626 NA 9479509, 9065432 Standard NM_002182 NA Approved IL-1RAcP, IL1R3, C3orf13 uc003fsq.3 Q9NPH3 OTTHUMG00000156211 ENST00000317757.3:c.*1341A>G chr3.hg19:g.190375737A>G NA B1NLD0|D3DNW0|O14915|Q86WJ7 hg19 CCDS54696.1 0.02 1.762784 CTCxGGA COVERED NOVEL IL1RAP-006 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000343502.1 5 3.61112 KEEP 0 0 0 12 384 AA 0.993634 0.983243 0 + 4 60 129 1 0 8.723441 47 60 1397 78 ENST00000317757.3 0.078431 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 192817756 192817756 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:192817756C>T NA NA MB21D2 (181806 upstream) : RP11-143P4.2 (44496 downstream) NA NA NA agctcccactcataagtgaga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.192817756C>T NA hg19 0.02 -0.438609 ACTxATA COVERED NOVEL 0 9 2.708937 KEEP 1 0 0 9 326 CC 0.99254 0.952699 0 4 60 112 2 0 7.254446 41 60 1402 96 0.088889 0.959859 OPA1 4976 __UNKNOWN__ __UNKNOWN__ 3 193385200 193385200 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:193385200T>C ENST00000392438.3 + 27 3052 OPA1_ENST00000361150.2_Intron|OPA1_ENST00000361908.3_Intron|OPA1_ENST00000361510.2_Intron|OPA1_ENST00000361715.2_Intron|OPA1_ENST00000361828.2_Intron NM_015560.2 NP_056375.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) NA NA apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601) dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287) breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) tggctcacgcttgtaatccca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011139 CCDS33917.1, CCDS43186.1 3q29 2014-09-17 ENSG00000198836 ENSG00000198836 4976 8140 protein-coding gene gene with protein product mitochondrial dynamin-like GTPase, dynamin-like guanosine triphosphatase, Dynamin-like 120 kDa protein, mitochondrial 605290 NA 9490303 Standard NM_130837 NM_015560 NA Approved NTG, KIAA0567, FLJ12460, NPG, MGM1 uc003ftg.3 O60313 OTTHUMG00000149897 ENST00000392438.3:c.2818+131T>C chr3.hg19:g.193385200T>C NA D3DNW4 hg19 CCDS43186.1 0.02 4.020552 CGCxTGT COVERED NOVEL OPA1-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000313812.2 7 2.67913 KEEP 0 2 75 35 1122 TT 1 0.999992 0 + 6 60 209 0 1 13.910598 94 60 2769 165 ENST00000392438.3 0.06 0.999992 LRRC15 131578 __UNKNOWN__ __UNKNOWN__ 3 194083922 194083922 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:194083922T>C ENST00000347624.3 - 2 83 LRRC15_ENST00000439944.2_Intron|LRRC15_ENST00000428839.1_Intron NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 NA NA negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) cccacctcggtctcccaaagt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB071037 CCDS3306.1, CCDS46984.1 3q29 2008-02-05 ENSG00000172061 ENSG00000172061 131578 20818 protein-coding gene gene with protein product NA 12923058 Standard NM_001135057 NA Approved LIB uc003ftu.3 Q8TF66 OTTHUMG00000156048 ENST00000347624.3:c.3-2147A>G chr3.hg19:g.194083922T>C NA Q495Q6|Q7RTN7 hg19 CCDS3306.1 0.02 3.333354 CGGxCTC COVERED NOVEL LRRC15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342858.2 16 7.856053 KEEP 0 1 34 38 1124 TT 1 1 0 - 7 60 223 0 0 13.840787 122 60 3389 230 ENST00000347624.3 0.054264 1 LRRC15 131578 __UNKNOWN__ __UNKNOWN__ 3 194083948 194083948 __UNKNOWN__ Intron SNP A A G rs188261591 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:194083948A>G ENST00000347624.3 - 2 83 LRRC15_ENST00000439944.2_Intron|LRRC15_ENST00000428839.1_Intron NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 NA NA negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) gattacaggcatgagccaccg 0.493 NA A||| 6 0.00119808 0.0045 0 5008 , , NA 16071 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB071037 CCDS3306.1, CCDS46984.1 3q29 2008-02-05 ENSG00000172061 ENSG00000172061 131578 20818 protein-coding gene gene with protein product NA 12923058 Standard NM_001135057 NA Approved LIB uc003ftu.3 Q8TF66 OTTHUMG00000156048 ENST00000347624.3:c.3-2173T>C chr3.hg19:g.194083948A>G NA Q495Q6|Q7RTN7 hg19 CCDS3306.1 0.02 7.399424 GGCxTGA COVERED NOVEL LRRC15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342858.2 38 10.962619 KEEP 0 1 33 48 1483 AA 1 1 0 - 11 60 368 0 0 23.513358 191 60 5664 379 ENST00000347624.3 0.054455 1 LSG1 55341 __UNKNOWN__ __UNKNOWN__ 3 194362542 194362542 __UNKNOWN__ 3'UTR SNP T T A rs789989 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:194362542T>A ENST00000265245.5 - 0 2546 AC046143.3_ENST00000447139.1_RNA NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 NA NA GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254) Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) acggggtttctccatgttggT 0.542 NA A||| 1746 0.348642 0.5688 0.3213 5008 , , NA 18202 0.125 NA 0.3241 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33922.1 3q29 2013-08-21 2013-08-21 ENSG00000041802 ENSG00000041802 55341 25652 protein-coding gene gene with protein product 610780 large subunit GTPase 1 homolog (S. cerevisiae) NA 11230166 Standard NM_018385 NM_018385 NA Approved FLJ11301 uc003fui.3 Q9H089 OTTHUMG00000156021 ENST00000265245.5:c.*255A>T chr3.hg19:g.194362542T>A NA A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8 hg19 CCDS33922.1 0.02 4.485261 TTCxCCA COVERED NOVEL LSG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342740.1 23 17.274048 KEEP 0 1 30 68 2076 TT 1 1 0 - 9 70 272 0 0 16.249889 160 60 4735 332 ENST00000265245.5 0.053254 1 AC090505.4 0 __UNKNOWN__ __UNKNOWN__ 3 194487104 194487104 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:194487104T>C ENST00000422271.1 - 0 180 AC090505.6_ENST00000423318.1_lincRNA NA NA NA gcactccagcttgggcaacaa 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000422271.1: chr3.hg19:g.194487104T>C NA hg19 0.02 -0.429738 AGCxTGG COVERED NOVEL AC090505.4-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000342748.1 9 2.708483 KEEP 2 0 0 9 297 TT 0.99257 0.9474 0 - 3 60 101 1 0 6.906301 37 60 1096 83 ENST00000422271.1 0.075 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195323402 195323402 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195323402A>G NA NA APOD (12326 upstream) : RP11-141C7.4 (43458 downstream) NA NA NA ggtggctcacacctgtaatcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195323402A>G NA hg19 0.02 -0.280636 CACxCCT UNCOVERED NOVEL 0 10 2.707248 KEEP 2 0 0 9 276 AA 0 0 0 4 60 117 0 0 8.626244 24 60 708 55 0.142857 0.760887 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195400654 195400654 __UNKNOWN__ lincRNA SNP T T C rs9682586 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195400654T>C ENST00000445430.1 + 0 1284 long intergenic non-protein coding RNA 969 NA NA NA GGAATGGGCATCTTGACATTT 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195400654T>C NA hg19 0.02 -0.315614 GCAxCTT COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 2 4.51164 KEEP 14 0 0 15 428 TT 0.993634 0.813254 0 + 3 47 99 0 0 6.849719 33 50 892 66 ENST00000445430.1 0.083333 0.818465 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195409998 195409998 __UNKNOWN__ lincRNA SNP G G A rs28541720 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195409998G>A ENST00000445430.1 + 0 1819 long intergenic non-protein coding RNA 969 NA NA NA GAAgccaggtgcagtggctcc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195409998G>A NA hg19 0.02 -0.219301 GGTxCAG COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 4 2.708463 KEEP 1 0 0 9 298 GG 0.99257 0.54878 0 + 3 49 87 0 0 6.392913 18 60 603 43 ENST00000445430.1 0.142857 0.552887 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195410627 195410627 __UNKNOWN__ lincRNA SNP A A G rs6583272 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195410627A>G ENST00000445430.1 + 0 1824 long intergenic non-protein coding RNA 969 NA NA NA CCTCAGGTGCAGATTGATGAG 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195410627A>G NA hg19 0.02 3.470241 TGCxGAT COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 3 6.920999 KEEP 2 0 0 23 725 AA 0.999892 0.999889 0 + 11 57 354 0 0 24.99126 102 60 3049 206 ENST00000445430.1 0.097345 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195433979 195433979 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195433979T>C NA NA MIR570 (7611 upstream) : MUC20 (13773 downstream) NA NA NA ctcagcctcctgagtagctgg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195433979T>C NA hg19 0.02 1.888668 TCCxGAG COVERED NOVEL 0 9 3.00911 KEEP 0 0 0 10 311 TT 0.992708 0.974795 0 5 60 158 0 0 10.998093 48 60 1444 84 0.09434 0.981955 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195456460 195456460 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195456460G>T ENST00000436408.1 + 3 2093 MUC20_ENST00000320736.6_Intron|MUC20_ENST00000445522.2_Intron|MUC20_ENST00000447234.2_Intron Q8N307 MUC20_HUMAN mucin 20, cell surface associated NA NA activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) gtgctgggatgacaggtgtga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000436408.1:c.1970-59G>T chr3.hg19:g.195456460G>T NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 3.761655 GATxACA COVERED NOVEL MUC20-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000341836.1 12 9.029819 KEEP 0 0 0 30 1093 GG 0.999997 0.999997 0 + 9 60 233 0 0 13.140792 131 60 4352 231 ENST00000436408.1 0.064286 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195508101 195508101 __UNKNOWN__ Intron SNP A A G rs76887830 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195508101A>G ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Silent_p.S3450S|MUC4_ENST00000463781.3_Silent_p.S3450S|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTGACCTGTAGATGCTGAGG 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 21 19 20 NA NA NA 3 NA NA 195508101 672 1573 2245 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-2775T>C chr3.hg19:g.195508101A>G NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.350652 TGTxGAT COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 3 2.407053 KEEP 1 0 0 8 243 AA 0.99257 0.871187 0 - 4 60 129 0 0 9.463143 30 60 831 63 ENST00000346145.4 0.117647 0.877708 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195509573 195509573 __UNKNOWN__ Intron SNP A A G rs28510889 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195509573A>G ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Missense_Mutation_p.S2960P|MUC4_ENST00000463781.3_Missense_Mutation_p.S2960P|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACAGGAAGAGAGGTGGCGTGA 0.587 NA .||| 1699 0.339257 0.534 0.2522 5008 , , NA 9438 0.128 NA 0.4433 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 8 8 8 NA NA NA 3 NA NA 195509573 598 1431 2029 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-4247T>C chr3.hg19:g.195509573A>G NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.359562 GAGxGGT COVERED . . . . . . . . . . N 5.006 0.186772 0.09547 . . ENSG00000145113 ENST00000463781;ENST00000475231 T;T 0.37411 1.2;1.27 . . . . . . . . T 0.17195 0.0413 N 0.14661 0.345 0.09310 N 1 B 0.31599 0.33 B 0.31547 0.132 T 0.19778 -1.0295 7 . . . . 3.1064 0.06344 0.6149:0.0:0.0:0.385 . 2832 E7ESK3 . P 2960 ENSP00000417498:S2960P;ENSP00000420243:S2960P . S - 1 0 MUC4 196994352 0.026000 0.19158 0.007000 0.13788 0.000000 0.00434 -2.277000 0.01160 0.402000 0.25451 0.000000 0.15137 TCT NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 4 2.407441 KEEP 4 0 0 8 255 AA 0.99257 0.882271 0 - 3 39 96 0 0 6.588043 32 60 923 74 ENST00000346145.4 0.085714 0.888875 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195509628 195509628 __UNKNOWN__ Intron SNP G G A rs201704892 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195509628G>A ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Silent_p.D2941D|MUC4_ENST00000463781.3_Silent_p.D2941D|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGTGTCACCTGTGG 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 10 8 9 NA NA NA 3 NA NA 195509628 659 1521 2180 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-4302C>T chr3.hg19:g.195509628G>A NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.359636 GGTxTCA COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 4 2.701426 KEEP 5 0 0 9 305 GG 0.99254 0.882244 0 - 10 60 284 0 0 24.225524 24 60 791 79 ENST00000346145.4 0.294118 0.888875 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195509651 195509651 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195509651G>A ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Missense_Mutation_p.L2934F|MUC4_ENST00000463781.3_Missense_Mutation_p.L2934F|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) p.L2934F(1)|p.P2934S(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACTGAGGAAAGGCTGGTGACA 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) skin(2) 9 8 8 NA NA NA 3 NA NA 195509651 662 1509 2171 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-4325C>T chr3.hg19:g.195509651G>A NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.384598 AAAxGCT COVERED . . . . . . . . . . N 11.55 1.670874 0.29693 . . ENSG00000145113 ENST00000463781;ENST00000475231 T;T 0.35236 1.36;1.32 . . . . . . . . T 0.26774 0.0655 N 0.14661 0.345 0.09310 N 1 D 0.57257 0.979 P 0.54026 0.74 T 0.11690 -1.0577 7 . . . . 3.7959 0.08738 0.0:0.0:0.5797:0.4203 . 2806 E7ESK3 . F 2934 ENSP00000417498:L2934F;ENSP00000420243:L2934F . L - 1 0 MUC4 196994430 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.715000 0.00385 -0.000000 0.14550 0.000000 0.15137 CTT NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 1 2.407876 KEEP 1 0 0 8 285 GG 0.99254 0.911321 0 - 7 48 207 0 0 16.173055 31 60 1019 79 ENST00000346145.4 0.184211 0.918171 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195509676 195509676 __UNKNOWN__ Intron SNP C C G rs372419355 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195509676C>G ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Missense_Mutation_p.Q2925H|MUC4_ENST00000463781.3_Missense_Mutation_p.Q2925H|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) p.Q2925H(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCCTGACCTGTGG 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) stomach(1) 9 7 8 NA NA NA 3 NA NA 195509676 655 1521 2176 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-4350G>C chr3.hg19:g.195509676C>G NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.3769 GGCxTGA COVERED . . . . . . . . . . N 0.030 -1.340469 0.01277 . . ENSG00000145113 ENST00000463781;ENST00000475231 T;T 0.34472 1.42;1.36 . . . . . . . . T 0.15652 0.0377 N 0.08118 0 0.09310 N 1 B 0.17852 0.024 B 0.21546 0.035 T 0.31420 -0.9944 7 . . . . 4.6597 0.12636 0.0:1.0:0.0:0.0 . 2797 E7ESK3 . H 2925 ENSP00000417498:Q2925H;ENSP00000420243:Q2925H . Q - 3 2 MUC4 196994455 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.474000 0.06607 -0.000000 0.14550 0.000000 0.15137 CAG NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 2 2.406439 KEEP 1 0 0 8 266 CC 0.99257 0.911349 0 - 13 50 379 0 0 33.145484 27 60 875 69 ENST00000346145.4 0.325 0.918171 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195512460 195512460 __UNKNOWN__ Intron SNP A A G rs201804964 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195512460A>G ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Silent_p.H1997H|MUC4_ENST00000463781.3_Silent_p.H1997H|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCATGACCTGTGG 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 38 40 39 NA NA NA 3 NA NA 195512460 685 1588 2273 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-7134T>C chr3.hg19:g.195512460A>G NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.263079 GGCxTGA COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 3 2.405115 KEEP 0 0 0 8 221 AA 0.99257 0.711986 0 - 3 43 96 0 0 6.89318 25 60 708 48 ENST00000346145.4 0.107143 0.717315 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195512734 195512734 __UNKNOWN__ Intron SNP T T G rs529505943 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195512734T>G ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Missense_Mutation_p.H1906P|MUC4_ENST00000463781.3_Missense_Mutation_p.H1906P|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) p.H1906R(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCGGTGACATGAAGAGGGGT 0.567 NA .||| 5 0.000998403 0.0015 0 5008 , , NA 42586 0 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 2 Substitution - Missense(2) NS(2) 43 38 40 NA NA NA 3 NA NA 195512734 690 1591 2281 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-7408A>C chr3.hg19:g.195512734T>G NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.342029 ACAxGAA COVERED . . . . . . . . . . - 5.462 0.270280 0.10349 . . ENSG00000145113 ENST00000463781;ENST00000475231 T;T 0.30714 1.53;1.52 0.844 -1.69 0.08186 . . . . . T 0.09069 0.0224 N 0.02539 -0.55 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.21042 -1.0257 8 . . . . 2.2178 0.03964 0.0:0.333:0.3361:0.331 . 1906 E7ESK3 . P 1906 ENSP00000417498:H1906P;ENSP00000420243:H1906P . H - 2 0 MUC4 196997129 0.002000 0.14202 0.005000 0.12908 0.007000 0.05969 -0.537000 0.06128 -1.928000 0.01059 -1.950000 0.00486 CAT NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 1 2.406078 KEEP 0 0 0 8 236 TT 0.99257 0.859313 0 - 3 60 103 0 0 7.211722 34 60 995 66 ENST00000346145.4 0.081081 0.865745 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195512750 195512750 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195512750C>G ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Missense_Mutation_p.D1901H|MUC4_ENST00000463781.3_Missense_Mutation_p.D1901H|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGGTGGTGTCACCTGTGGAT 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 37 34 35 NA NA NA 3 NA NA 195512750 688 1590 2278 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-7424G>C chr3.hg19:g.195512750C>G NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.34201 TGTxACC COVERED . . . . . . . . . . - 0.245 -1.011024 0.02095 . . ENSG00000145113 ENST00000463781;ENST00000475231 T;T 0.35421 1.34;1.31 0.844 -1.69 0.08186 . . . . . T 0.20455 0.0492 N 0.02539 -0.55 0.09310 N 1 D 0.54964 0.969 P 0.58013 0.831 T 0.08868 -1.0701 8 . . . . 2.2027 0.03928 0.3314:0.3352:0.3335:0.0 . 1901 E7ESK3 . H 1901 ENSP00000417498:D1901H;ENSP00000420243:D1901H . D - 1 0 MUC4 196997145 0.001000 0.12720 0.012000 0.15200 0.007000 0.05969 0.420000 0.21263 -2.031000 0.00928 -1.986000 0.00452 GAC NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 2 2.40773 KEEP 0 0 0 8 272 CC 0.99257 0.859313 0 - 4 60 108 0 0 7.182104 34 60 1119 65 ENST00000346145.4 0.105263 0.865745 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195513173 195513173 __UNKNOWN__ Intron SNP G G A rs77448757 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195513173G>A ENST00000346145.4 - 2 122 MUC4_ENST00000475231.1_Missense_Mutation_p.P1760S|MUC4_ENST00000463781.3_Missense_Mutation_p.P1760S|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACAGGAAGAGGGGTGGCCTGA 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 49 50 NA NA NA 3 NA NA 195513173 692 1591 2283 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-7847C>T chr3.hg19:g.195513173G>A NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.28066 GAGxGGT COVERED . . . . . . . . . . - 3.212 -0.161316 0.06502 . . ENSG00000145113 ENST00000463781;ENST00000475231 T;T 0.29142 1.58;1.58 . . . . . . . . T 0.08935 0.0221 N 0.02539 -0.55 0.09310 N 1 B 0.14438 0.01 B 0.04013 0.001 T 0.27872 -1.0061 7 . . . . 4.5334 0.12017 0.332:0.0:0.668:0.0 . 1760 E7ESK3 . S 1760 ENSP00000417498:P1760S;ENSP00000420243:P1760S . P - 1 0 MUC4 196997568 0.080000 0.21391 0.007000 0.13788 0.007000 0.05969 2.260000 0.43267 -1.764000 0.01305 -1.783000 0.00646 CCT NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 5 2.708629 KEEP 0 0 0 9 308 GG 0.99254 0.734154 0 - 4 60 115 0 0 8.359499 25 60 821 54 ENST00000346145.4 0.137931 0.739671 TNK2 10188 __UNKNOWN__ __UNKNOWN__ 3 195629886 195629886 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195629886A>G ENST00000333602.6 - 1 600 TNK2_ENST00000468819.1_Intron NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 NA NA cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264) axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) ctcccaaagtactgggattac 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L13738 CCDS33927.1, CCDS33928.1 3q29 2013-09-02 ENSG00000061938 ENSG00000061938 10188 19297 protein-coding gene gene with protein product activated Cdc42-associated kinase 1 606994 NA 8497321, 14506255 Standard NM_005781 XM_006713460 NA Approved p21cdc42Hs, ACK, ACK1 uc003fvt.1 Q07912 OTTHUMG00000155737 ENST00000333602.6:c.17+5469T>C chr3.hg19:g.195629886A>G NA Q6ZMQ0|Q8N6U7|Q96H59 hg19 CCDS33928.1 0.02 -0.333173 AGTxCTG COVERED NOVEL TNK2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341437.3 3 2.405979 KEEP 1 0 0 8 223 AA 0.99257 0.845654 0 - 3 60 94 0 0 6.350756 33 60 909 65 ENST00000333602.6 0.083333 0.851984 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195711423 195711423 __UNKNOWN__ RNA SNP A A G rs201502468 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA CTCTTGTACTAGAAACAGACC 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195711423A>G NA hg19 0.02 7.1462 ACTxGAA COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 1 4.915941 KEEP 6 3 102 52 1575 AA 1 1 0 - 12 27 361 0 0 21.897382 206 60 5857 374 ENST00000427841.1 0.055046 1 TFRC 7037 __UNKNOWN__ __UNKNOWN__ 3 195789365 195789365 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195789365T>C ENST00000360110.4 - 13 1638 TFRC_ENST00000540528.1_Intron|TFRC_ENST00000535031.1_Intron|TFRC_ENST00000420415.1_Intron|TFRC_ENST00000392396.3_Intron|TFRC_ENST00000465288.1_Intron NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor NA NA cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032) blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982) double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) Gallium nitrate(DB05260) gatcgtgccattgcactccag 0.488 NA T BCL6 NHL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 3 3q29 7037 transferrin receptor (p90, CD71) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X01060 CCDS3312.1 3q29 2013-09-19 2013-09-19 ENSG00000072274 ENSG00000072274 7037 CD molecules 11763 protein-coding gene gene with protein product 190010 transferrin receptor (p90, CD71) NA Standard NM_003234 NA Approved CD71, TFR1, p90 uc003fwa.4 P02786 OTTHUMG00000155714 ENST00000360110.4:c.1468+87A>G chr3.hg19:g.195789365T>C NA D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21 hg19 CCDS3312.1 0.02 1.862432 CCAxTGC COVERED NOVEL TFRC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341346.1 7 2.391846 KEEP 1 0 0 8 239 TT 0.99257 0.980603 0 - 4 60 126 0 0 8.426734 47 60 1349 82 ENST00000360110.4 0.078431 0.987943 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195960403 195960403 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195960403C>G ENST00000479732.1 + 0 83 PCYT1A_ENST00000419333.1_Intron Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit NA NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) actttgggagcctgaggcggg 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000479732.1:c.*80C>G chr3.hg19:g.195960403C>G NA Q6ZMC7 hg19 0.02 -0.307013 GAGxCTG COVERED NOVEL SLC51A-014 PUTATIVE basic processed_transcript NA protein_coding OTTHUMT00000341266.1 2 2.4077 KEEP 0 0 0 8 271 CC 0.99257 0.7943 0 + 3 60 94 0 0 6.427698 31 60 992 46 ENST00000479732.1 0.088235 0.800245 PCYT1A 5130 __UNKNOWN__ __UNKNOWN__ 3 195969936 195969936 __UNKNOWN__ Intron SNP T T C rs575079177 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:195969936T>C ENST00000292823.2 - 7 659 PCYT1A_ENST00000419333.1_Intron|PCYT1A_ENST00000431016.1_Intron NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha NA NA CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587) choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289) cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122)|Lamivudine(DB00709) cggtggctcatgcctgtaatc 0.512 NA T||| 31 0.0061901 0.0227 0 5008 , , NA 18711 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L28957 CCDS3315.1 3q29 2010-07-19 2005-09-05 ENSG00000161217 ENSG00000161217 5130 2.7.7.15 8754 protein-coding gene gene with protein product phosphate cytidylyltransferase 1, choline, alpha isoform 123695 phosphate cytidylyltransferase 1, choline, alpha isoform PCYT1 NA 7918629 Standard NM_005017 NM_005017 NA Approved CT, CTPCT uc003fwg.3 P49585 OTTHUMG00000155670 ENST00000292823.2:c.487-425A>G chr3.hg19:g.195969936T>C NA A9LYK9|D3DXB1|Q86Y88 hg19 CCDS3315.1 0.02 1.830523 TCAxGCC COVERED NOVEL PCYT1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341147.1 8 4.814614 KEEP 1 0 0 16 504 TT 0.999366 0.997833 0 - 5 60 166 0 1 11.168126 65 60 1892 117 ENST00000292823.2 0.071429 0.998465 RP11-447L10.1 0 __UNKNOWN__ __UNKNOWN__ 3 196030092 196030092 __UNKNOWN__ Intron SNP C C T rs61138415 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196030092C>T ENST00000431391.1 - 3 387 TCTEX1D2_ENST00000325318.5_Intron NA NA NA ggctcactggctctccacacc 0.542 NA C||| 2133 0.425919 0.1831 0.4078 5008 , , NA 17207 0.7966 NA 0.3111 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000431391.1:c.317+3721G>A chr3.hg19:g.196030092C>T NA hg19 0.02 -0.131576 TGGxTCT COVERED NOVEL RP11-447L10.1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000341168.1 1 3.311027 KEEP 8 0 0 11 411 CC 0.99254 0.227464 0 - 5 40 144 0 0 12.638436 10 50 341 43 ENST00000431391.1 0.333333 0.229173 RP11-447L10.1 0 __UNKNOWN__ __UNKNOWN__ 3 196033631 196033631 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196033631T>C ENST00000431391.1 - 3 387 TCTEX1D2_ENST00000325318.5_Intron NA NA NA aggctggtcttgaactcctga 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000431391.1:c.317+182A>G chr3.hg19:g.196033631T>C NA hg19 0.02 1.538286 TCTxGAA COVERED NOVEL RP11-447L10.1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000341168.1 6 4.512349 KEEP 3 0 0 15 431 TT 0.99649 0.989441 0 - 6 60 181 1 0 12.502424 54 60 1432 95 ENST00000431391.1 0.1 0.992926 UBXN7 26043 __UNKNOWN__ __UNKNOWN__ 3 196080624 196080624 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196080624T>C ENST00000296328.4 - 0 4476 NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 NA NA Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634) transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 tcccaaagtgttgggattaca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018337 CCDS43191.1 3q29 2012-07-06 2008-07-25 2008-07-25 ENSG00000163960 ENSG00000163960 26043 UBX domain containing 29119 protein-coding gene gene with protein product UBX domain containing 7 UBXD7 NA 9872452, 22537386 Standard XM_087353 NM_015562 NA Approved KIAA0794 uc003fwm.4 O94888 OTTHUMG00000155639 ENST00000296328.4:c.*2932A>G chr3.hg19:g.196080624T>C NA D3DXB3|Q6ZP77|Q86X20|Q8N327 hg19 CCDS43191.1 0.02 1.704622 GTGxTGG COVERED NOVEL UBXN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340938.2 11 3.308839 KEEP 1 0 0 11 324 TT 0.993072 0.992072 0 - 5 60 163 0 0 10.868799 65 60 1833 120 ENST00000296328.4 0.071429 0.998993 SMCO1 255798 __UNKNOWN__ __UNKNOWN__ 3 196241890 196241890 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196241890T>C ENST00000397537.2 - 1 207 NM_001077657.1 NP_001071125.1 Q147U7 SMCO1_HUMAN single-pass membrane protein with coiled-coil domains 1 NA NA integral component of membrane (GO:0016021) NA ggattacaggtgtgagccacc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK123917 CCDS43192.1 3q29 2013-03-08 2013-03-08 2013-03-08 ENSG00000214097 ENSG00000214097 255798 27407 protein-coding gene gene with protein product chromosome 3 open reading frame 43 C3orf43 NA Standard NM_001006109 NM_001077657 NA Approved FLJ41923, DKFZp313B0440 Q147U7 OTTHUMG00000155581 ENST00000397537.2:c.50+140A>G chr3.hg19:g.196241890T>C NA B3KW20 hg19 CCDS43192.1 0.02 1.643467 AGGxGTG COVERED NOVEL SMCO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340776.1 7 5.108023 KEEP 0 0 0 17 481 TT 0.999366 0.998989 0 - 4 60 130 0 0 8.02024 76 60 2056 116 ENST00000397537.2 0.05 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 196268341 196268341 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196268341A>G NA NA SMCO1 (26104 upstream) : WDR53 (12714 downstream) NA NA NA gcaacatagcaagaccccatc 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.196268341A>G NA hg19 0.02 -0.306951 AGCxAGA COVERED NOVEL 0 10 3.009083 KEEP 1 0 0 10 312 AA 0.992708 0.79441 0 3 60 102 0 0 7.267315 30 60 875 68 0.090909 0.800245 FBXO45 200933 __UNKNOWN__ __UNKNOWN__ 3 196314759 196314759 __UNKNOWN__ 3'UTR SNP G G C rs544021148 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196314759G>C ENST00000311630.6 + 0 4728 NM_001105573.1 NP_001099043.1 P0C2W1 FBSP1_HUMAN F-box protein 45 NA NA anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386) cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) agcaattctcgtgcctcagcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025697 CCDS46985.1 3q29 2008-02-05 ENSG00000174013 ENSG00000174013 200933 F-boxes / other 29148 protein-coding gene gene with protein product 609112 NA Standard NM_001105573 NA Approved Fbx45 uc010iai.3 P0C2W1 OTTHUMG00000155571 ENST00000311630.6:c.*3570G>C chr3.hg19:g.196314759G>C NA A6NF90|D3DXB5 hg19 CCDS46985.1 0.02 1.725119 CTCxTGC COVERED NOVEL FBXO45-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340687.2 4 3.243896 KEEP 0 1 26 20 685 GG 0.999869 0.999637 0 + 4 60 136 1 0 8.637938 75 60 2395 119 ENST00000311630.6 0.050633 0.999768 CEP19 84984 __UNKNOWN__ __UNKNOWN__ 3 196433955 196433955 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196433955A>G ENST00000399942.4 - 0 1148 CEP19_ENST00000409690.3_3'UTR Q96LK0 CEP19_HUMAN centrosomal protein 19kDa NA NA centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922) NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 10 aggctggagtacaatggcgcg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007827 CCDS43193.2 3q29 2014-02-20 2011-05-06 2011-05-06 ENSG00000174007 ENSG00000174007 84984 28209 protein-coding gene gene with protein product 615586 chromosome 3 open reading frame 34 C3orf34 NA 21399614 Standard NM_032898 XM_005269370 NA Approved MGC14126 uc011btw.2 Q96LK0 OTTHUMG00000153933 ENST00000399942.4:c.*467T>C chr3.hg19:g.196433955A>G NA B2RA74|Q96I48 hg19 0.02 -0.332456 AGTxCAA COVERED NOVEL CEP19-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333081.1 4 3.610072 KEEP 0 0 0 12 349 AA 0.993634 0.84656 0 - 3 60 101 0 0 7.253142 28 70 763 50 ENST00000399942.4 0.096774 0.851984 CEP19 84984 __UNKNOWN__ __UNKNOWN__ 3 196433987 196433987 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196433987A>T ENST00000399942.4 - 0 1116 CEP19_ENST00000409690.3_3'UTR Q96LK0 CEP19_HUMAN centrosomal protein 19kDa NA NA centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922) NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 10 ctgcaacctcagcctcccagg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007827 CCDS43193.2 3q29 2014-02-20 2011-05-06 2011-05-06 ENSG00000174007 ENSG00000174007 84984 28209 protein-coding gene gene with protein product 615586 chromosome 3 open reading frame 34 C3orf34 NA 21399614 Standard NM_032898 XM_005269370 NA Approved MGC14126 uc011btw.2 Q96LK0 OTTHUMG00000153933 ENST00000399942.4:c.*435T>A chr3.hg19:g.196433987A>T NA B2RA74|Q96I48 hg19 0.02 -0.227994 CTCxGCC COVERED NOVEL CEP19-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333081.1 9 3.008756 KEEP 0 0 0 10 301 AA 0.992708 0.607941 0 - 4 60 102 0 0 7.340004 21 60 612 39 ENST00000399942.4 0.16 0.612407 PIGX 54965 __UNKNOWN__ __UNKNOWN__ 3 196444919 196444919 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196444919T>C ENST00000421265.1 + 2 106 PIGX_ENST00000541663.1_Intron|PIGX_ENST00000314118.4_Intron|PIGX_ENST00000495440.1_Intron Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, class X NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(5)|lung(4)|stomach(1) 11 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) cggtggctcatgcctgtaatc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000529 CCDS3320.1, CCDS3320.2, CCDS54701.1 3q29 2013-02-26 2006-06-28 ENSG00000163964 ENSG00000163964 54965 Phosphatidylinositol glycan anchor biosynthesis 26046 protein-coding gene gene with protein product 610276 phosphatidylinositol glycan, class X NA 15635094 Standard NM_017861 NM_017861 NA Approved FLJ20522 uc010iaj.3 Q8TBF5 OTTHUMG00000155535 ENST00000421265.1:c.53+1127T>C chr3.hg19:g.196444919T>C NA Q9NWZ2 hg19 0.02 -0.34203 TCAxGCC COVERED NOVEL PIGX-008 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000340684.1 7 2.708358 KEEP 1 0 0 9 285 TT 0.99254 0.859287 0 + 4 60 134 0 0 9.90882 31 60 888 66 ENST00000421265.1 0.114286 0.865745 PIGX 54965 __UNKNOWN__ __UNKNOWN__ 3 196460544 196460544 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196460544G>A ENST00000314118.4 + 6 792 PIGX_ENST00000541663.1_Intron NM_017861.3 NP_060331.3 Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, class X NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(5)|lung(4)|stomach(1) 11 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) ttggcctcccgaagtgctggg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000529 CCDS3320.1, CCDS3320.2, CCDS54701.1 3q29 2013-02-26 2006-06-28 ENSG00000163964 ENSG00000163964 54965 Phosphatidylinositol glycan anchor biosynthesis 26046 protein-coding gene gene with protein product 610276 phosphatidylinositol glycan, class X NA 15635094 Standard NM_017861 NM_017861 NA Approved FLJ20522 uc010iaj.3 Q8TBF5 OTTHUMG00000155535 ENST00000314118.4:c.511-86G>A chr3.hg19:g.196460544G>A NA Q9NWZ2 hg19 0.02 1.271847 CCCxAAG COVERED NOVEL PIGX-201 KNOWN basic|appris_principal protein_coding NA protein_coding 9 4.713629 KEEP 0 1 29 26 824 GG 0.999988 0.999395 0 + 7 60 207 0 0 13.94618 68 60 2189 160 ENST00000314118.4 0.093333 0.999407 PAK2 5062 __UNKNOWN__ __UNKNOWN__ 3 196490963 196490963 __UNKNOWN__ Intron SNP G G A rs571869374 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196490963G>A ENST00000327134.3 + 2 301 NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296) breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) gtgagccaccgcgcccggccT 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U24153 CCDS3321.1 3q29 2008-06-17 2008-06-17 ENSG00000180370 5062 2.7.11.1 8591 protein-coding gene gene with protein product S6/H4 kinase 605022 p21 (CDKN1A)-activated kinase 2 NA 7744004, 7618083 Standard NM_002577 NM_002577 NA Approved PAK65, PAKgamma uc003fwy.4 Q13177 ENST00000327134.3:c.-21-18534G>A chr3.hg19:g.196490963G>A NA Q13154|Q6ISC3 hg19 CCDS3321.1 0.02 -0.28068 ACCxCGC UNCOVERED NOVEL PAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340548.1 7 2.407661 KEEP 4 0 0 8 278 GG 0 0 0 + 4 60 110 0 0 7.799491 26 60 865 63 ENST00000327134.3 0.133333 0.739671 SENP5 205564 __UNKNOWN__ __UNKNOWN__ 3 196625691 196625691 __UNKNOWN__ Intron SNP A A T rs12487121 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196625691A>T ENST00000323460.5 + 3 1762 SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925) intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) agaccattcgatgattgcatt 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(47;891 1095 11174 13858 51271) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC030705 CCDS3322.1 3q29 2005-08-17 2005-08-17 ENSG00000119231 ENSG00000119231 205564 28407 protein-coding gene gene with protein product 612845 SUMO1/sentrin specific protease 5 NA 12477932 Standard NM_152699 NM_152699 NA Approved MGC27076 uc003fwz.4 Q96HI0 OTTHUMG00000155527 ENST00000323460.5:c.1514-846A>T chr3.hg19:g.196625691A>T NA B4DY82|Q96SA5 hg19 CCDS3322.1 0.02 7.547098 TCGxTGA COVERED NOVEL SENP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340524.1 136 31.513256 KEEP 154 9 295 208 6813 AA 1 1 0 + 15 49 443 1 1 27.648912 207 60 6253 1040 ENST00000323460.5 0.067568 1 SENP5 205564 __UNKNOWN__ __UNKNOWN__ 3 196625718 196625718 __UNKNOWN__ Intron SNP G G C rs564306832 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196625718G>C ENST00000323460.5 + 3 1762 SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925) intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) attcgatgacgattccattca 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(47;891 1095 11174 13858 51271) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC030705 CCDS3322.1 3q29 2005-08-17 2005-08-17 ENSG00000119231 ENSG00000119231 205564 28407 protein-coding gene gene with protein product 612845 SUMO1/sentrin specific protease 5 NA 12477932 Standard NM_152699 NM_152699 NA Approved MGC27076 uc003fwz.4 Q96HI0 OTTHUMG00000155527 ENST00000323460.5:c.1514-819G>C chr3.hg19:g.196625718G>C NA B4DY82|Q96SA5 hg19 CCDS3322.1 0.02 9.537005 GACxATT COVERED NOVEL SENP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340524.1 151 36.870016 KEEP 177 8 282 221 7464 GG 1 1 0 + 12 46 416 2 0 26.989658 213 60 6887 1082 ENST00000323460.5 0.053333 1 DLG1 1739 __UNKNOWN__ __UNKNOWN__ 3 196960507 196960507 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:196960507T>C ENST00000346964.2 - 5 508 DLG1_ENST00000422288.1_Intron|DLG1_ENST00000448528.2_Intron|DLG1_ENST00000314062.3_Intron|DLG1_ENST00000419354.1_Intron|DLG1_ENST00000392382.2_Intron|DLG1_ENST00000485409.1_Intron|DLG1_ENST00000450955.1_Intron|DLG1_ENST00000357674.4_Intron NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) NA NA actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032) basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923) cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) ctgcccaccttggcctcccaa 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U13897 CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1 3q29 2008-12-15 2001-11-28 ENSG00000075711 ENSG00000075711 1739 2900 protein-coding gene gene with protein product discs large homolog 1, presynaptic protein SAP97, synapse-associated protein 97 601014 discs, large (Drosophila) homolog 1 NA 7937897, 8825652 Standard NM_004087 NM_004087 NA Approved SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1 uc003fxn.4 Q12959 OTTHUMG00000047972 ENST00000346964.2:c.319-39047A>G chr3.hg19:g.196960507T>C NA A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958 hg19 CCDS3327.1 0.02 -0.368248 CCTxGGC COVERED NOVEL DLG1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000242864.1 25 3.610789 KEEP 5 0 0 12 370 TT 0.993072 0.893084 0 - 3 40 96 0 0 6.710431 29 60 795 75 ENST00000346964.2 0.09375 0.899314 DLG1-AS1 100507086 __UNKNOWN__ __UNKNOWN__ 3 197028129 197028129 __UNKNOWN__ RNA SNP C C T rs13096778 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:197028129C>T ENST00000430666.1 + 0 474 DLG1-AS1_ENST00000414529.1_RNA NR_038289.1 DLG1 antisense RNA 1 NA NA NA ccagcctgggcgacagagcaa 0.428 NA C||| 51 0.0101837 0 0.0014 5008 , , NA 12517 0 NA 0 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC039329 3q29 2012-10-12 2012-08-15 ENSG00000227375 ENSG00000227375 100507086 Long non-coding RNAs 44154 non-coding RNA RNA, long non-coding DLG1 antisense RNA 1 (non-protein coding) NA Standard NR_038289 NR_038289 NA Approved uc003fxq.3 OTTHUMG00000155484 ENST00000430666.1: chr3.hg19:g.197028129C>T NA hg19 0.02 -0.359655 GGGxGAC UNCOVERED NOVEL DLG1-AS1-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000340294.1 44 3.611889 KEEP 23 0 0 12 430 CC 0 0 0 + 4 31 112 1 1 7.76456 30 60 1007 78 ENST00000430666.1 0.117647 0.888875 BDH1 622 __UNKNOWN__ __UNKNOWN__ 3 197237835 197237835 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:197237835T>C ENST00000392378.2 - 0 2273 BDH1_ENST00000392379.1_3'UTR|BDH1_ENST00000358186.2_3'UTR NM_004051.4 NP_004042.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 NA NA adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543) endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) AAAAATctcatgcctgtaatc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M93107 CCDS3328.1 3q29 2011-09-14 2005-11-15 2005-11-15 ENSG00000161267 ENSG00000161267 622 1.1.1.30 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 1027 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 9C, member 1 603063 3-hydroxybutyrate dehydrogenase (heart, mitochondrial) BDH NA 1639787, 19027726 Standard NM_004051 XM_005269352 NA Approved SDR9C1 uc003fxs.3 Q02338 OTTHUMG00000155478 ENST00000392378.2:c.*931A>G chr3.hg19:g.197237835T>C NA D3DXC0|Q96ET1|Q9BRZ4 hg19 CCDS3328.1 0.02 3.505602 TCAxGCC COVERED NOVEL BDH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340267.1 21 7.394183 KEEP 0 2 76 51 1624 TT 1 1 0 - 6 60 204 1 0 12.571381 131 60 3926 265 ENST00000392378.2 0.043796 1 KIAA0226 9711 __UNKNOWN__ __UNKNOWN__ 3 197403310 197403310 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:197403310G>A ENST00000296343.5 - 18 2646 KIAA0226_ENST00000273582.5_Intron NM_014687.1 NP_055502.1 Q92622 RUBIC_HUMAN KIAA0226 NA NA autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806) early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764) NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) tcagcctcccgagtagctggg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(3;167 355 3763 15924) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D86979 CCDS43195.1, CCDS46987.1 3q29 2011-08-09 ENSG00000145016 ENSG00000145016 9711 28991 protein-coding gene gene with protein product RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein 613516 NA 9039502, 19270693, 20826435 Standard XM_032901 XM_005269374 NA Approved rubicon, rundataxin uc003fyc.2 Q92622 OTTHUMG00000155452 ENST00000296343.5:c.2646+445C>T chr3.hg19:g.197403310G>A NA Q96CK5 hg19 CCDS43195.1 0.02 -0.333268 CCCxAGT COVERED NOVEL KIAA0226-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000340184.1 7 2.407537 KEEP 1 0 0 8 260 GG 0.99257 0.845654 0 - 4 59 104 0 0 6.915833 31 60 970 51 ENST00000296343.5 0.114286 0.851984 KIAA0226 9711 __UNKNOWN__ __UNKNOWN__ 3 197403382 197403382 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:197403382T>C ENST00000296343.5 - 18 2646 KIAA0226_ENST00000273582.5_Intron NM_014687.1 NP_055502.1 Q92622 RUBIC_HUMAN KIAA0226 NA NA autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806) early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764) NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) tggggtttcatcatgttcgtc 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(3;167 355 3763 15924) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D86979 CCDS43195.1, CCDS46987.1 3q29 2011-08-09 ENSG00000145016 ENSG00000145016 9711 28991 protein-coding gene gene with protein product RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein 613516 NA 9039502, 19270693, 20826435 Standard XM_032901 XM_005269374 NA Approved rubicon, rundataxin uc003fyc.2 Q92622 OTTHUMG00000155452 ENST00000296343.5:c.2646+373A>G chr3.hg19:g.197403382T>C NA Q96CK5 hg19 CCDS43195.1 0.02 -0.412027 TCAxCAT COVERED NOVEL KIAA0226-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000340184.1 3 3.911346 KEEP 2 0 0 13 393 TT 0.994391 0.936459 0 - 3 40 98 0 0 6.448453 42 60 1156 65 ENST00000296343.5 0.066667 0.941741 KIAA0226 9711 __UNKNOWN__ __UNKNOWN__ 3 197421036 197421036 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:197421036C>A ENST00000296343.5 - 10 1684 KIAA0226_ENST00000273582.5_Intron|KIAA0226_ENST00000389665.5_Intron NM_014687.1 NP_055502.1 Q92622 RUBIC_HUMAN KIAA0226 NA NA autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806) early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764) NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) tgctgggattccaggcgtgag 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(3;167 355 3763 15924) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D86979 CCDS43195.1, CCDS46987.1 3q29 2011-08-09 ENSG00000145016 ENSG00000145016 9711 28991 protein-coding gene gene with protein product RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein 613516 NA 9039502, 19270693, 20826435 Standard XM_032901 XM_005269374 NA Approved rubicon, rundataxin uc003fyc.2 Q92622 OTTHUMG00000155452 ENST00000296343.5:c.1684+209G>T chr3.hg19:g.197421036C>A NA Q96CK5 hg19 CCDS43195.1 0.02 2.784701 ATTxCAG COVERED NOVEL KIAA0226-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000340184.1 14 9.202062 KEEP 0 1 29 41 1410 CC 1 0.999997 0 - 7 60 202 0 0 12.477575 95 60 3109 225 ENST00000296343.5 0.068627 0.999997 FYTTD1 84248 __UNKNOWN__ __UNKNOWN__ 3 197482611 197482611 __UNKNOWN__ 5'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:197482611A>G ENST00000415708.2 + 0 169 FYTTD1_ENST00000241502.4_Intron|FYTTD1_ENST00000424384.2_Intron|FYTTD1_ENST00000428395.2_5'UTR Q96QD9 UIF_HUMAN forty-two-three domain containing 1 NA NA mRNA export from nucleus (GO:0006406) nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822) kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) cgcccacctcagcctcccaaa 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 48 47 47 NA NA NA 3 NA NA 197482611 692 1591 2283 SO:0001623 5_prime_UTR_variant AJ344094 CCDS3329.1, CCDS43196.1, CCDS43196.2 3q29 2011-03-03 ENSG00000122068 ENSG00000122068 84248 25407 protein-coding gene gene with protein product UAP56-interacting factor NA 19836239 Standard NM_032288 NM_001011537 NA Approved DKFZp761B1514, UIF uc003fyi.2 Q96QD9 OTTHUMG00000155453 ENST00000415708.2:c.-70A>G chr3.hg19:g.197482611A>G NA A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8 hg19 CCDS43196.2 0.02 9.507764 CTCxGCC COVERED NOVEL FYTTD1-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000340187.7 50 19.46386 KEEP 0 3 107 102 3244 AA 1 1 0 + 15 60 511 0 1 33.443586 242 60 7388 566 ENST00000415708.2 0.058366 1 LRCH3 84859 __UNKNOWN__ __UNKNOWN__ 3 197554697 197554697 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:197554697T>C ENST00000438796.2 + 5 821 LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000334859.4_Intron|LRCH3_ENST00000425562.2_Intron Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 NA NA cytoplasm (GO:0005737)|extracellular region (GO:0005576) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) tgcctgtaattccagcacttt 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL137527 CCDS3330.1 3q29 2006-04-12 ENSG00000186001 ENSG00000186001 84859 28637 protein-coding gene gene with protein product NA 12477932 Standard NM_032773 NM_032773 NA Approved MGC4126 uc003fyj.1 Q96II8 OTTHUMG00000155378 ENST00000438796.2:c.777+812T>C chr3.hg19:g.197554697T>C NA B4E0T7|Q96FP9|Q9NT52 hg19 0.02 -0.385869 AATxCCA COVERED NOVEL LRCH3-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000339960.1 4 3.911759 KEEP 0 0 0 13 407 TT 0.994391 0.91302 0 + 3 45 101 0 0 6.975716 35 60 1013 87 ENST00000438796.2 0.078947 0.918171 IQCG 84223 __UNKNOWN__ __UNKNOWN__ 3 197678267 197678267 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr3:197678267G>C ENST00000265239.6 - 3 366 RPL35A_ENST00000329092.8_Intron|RPL35A_ENST00000464167.1_Intron|RPL35A_ENST00000448864.1_Intron|IQCG_ENST00000480302.1_Intron NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G NA NA extracellular vesicular exosome (GO:0070062) autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) ctctgttgccgaggctggaat 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136889 CCDS3331.1 3q29 2014-07-18 ENSG00000114473 ENSG00000114473 84223 25251 protein-coding gene gene with protein product dynein regulatory complex subunit 9 612477 NA 11230166, 23427265, 24362311 Standard NM_032263 NM_032263 NA Approved DKFZp434B227, DRC9, CFAP122 uc003fyo.3 Q9H095 OTTHUMG00000155408 ENST00000265239.6:c.59-5710C>G chr3.hg19:g.197678267G>C NA Q9BST2|Q9HAG8 hg19 CCDS3331.1 0.02 5.560626 GCCxAGG COVERED NOVEL IQCG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339730.1 18 31.900938 KEEP 0 0 0 106 3612 GG 1 1 0 - 8 60 277 1 0 17.371909 169 60 5367 367 ENST00000265239.6 0.045198 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 30447 30447 __UNKNOWN__ IGR SNP A A G rs56921155 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:30447A>G NA NA None (None upstream) : Z95704.4 (18543 downstream) NA NA NA atcctaagccaaaagaacaaa 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.30447A>G NA hg19 0.02 1.654637 GCCxAAA COVERED NOVEL 0 13 4.513712 KEEP 2 0 0 15 467 AA 0.99649 0.986069 0 6 49 197 1 0 14.14222 53 51 1551 118 0.101695 0.989542 Z95704.4 0 __UNKNOWN__ __UNKNOWN__ 4 49846 49846 __UNKNOWN__ RNA SNP C C T rs4970287 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49846C>T ENST00000596885.1 - 0 4 NA NA NA ACTCCTGGAGCTGCTCTATCT 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000596885.1: chr4.hg19:g.49846C>T NA hg19 0.02 -0.368403 GAGxTGC COVERED NOVEL Z95704.4-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000462162.1 1 6.019778 KEEP 0 0 0 20 728 CC 0.999863 0.89919 0 - 5 60 151 0 0 10.831521 37 60 1269 92 ENST00000596885.1 0.119048 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 50381 50381 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:50381T>G NA NA Z95704.4 (531 upstream) : ZNF595 (2797 downstream) NA NA NA ggaggctgagtcaggagaatg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.50381T>G NA hg19 0.02 -0.23677 GAGxCAG COVERED NOVEL 0 4 4.212726 KEEP 0 0 0 14 439 TT 0.995343 0.609555 0 4 60 115 0 0 8.637741 21 60 604 54 0.16 0.612407 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 55038 55038 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:55038G>C ENST00000509152.2 + 1 188 ZNF595_ENST00000526473.2_Intron|ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) gcctcggcctgccaaagtgct 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.3+1653G>C chr4.hg19:g.55038G>C NA hg19 0.02 1.572828 CCTxCCA COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 9 7.223174 KEEP 1 0 0 24 868 GG 0.999909 0.999839 0 + 6 60 201 0 0 13.516967 80 60 2725 179 ENST00000509152.2 0.069767 0.99993 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 60003 60003 __UNKNOWN__ Silent SNP G G A rs541922607 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:60003G>A ENST00000509152.2 + 3 368 c.183G>A c.(181-183)gaG>gaA p.E61E ZNF595_ENST00000526473.2_Silent_p.E61E|ZNF595_ENST00000339368.6_3'UTR Q8IYB9 ZN595_HUMAN zinc finger protein 595 61 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AAATAAAAGAGCCCTGCAATT 0.458 NA G||| 2 0.000399361 0 0 5008 , , NA 80545 0.002 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 119 127 124 NA NA NA 4 NA NA 60003 2181 4295 6476 SO:0001819 synonymous_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.183G>A chr4.hg19:g.60003G>A NA hg19 0.02 7.811843 AGAxCCC COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 10 11.715928 KEEP 0 5 166 97 3527 GG 1 1 0 + 18 60 520 0 0 32.078977 247 60 8558 505 ENST00000509152.2 0.067925 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 60303 60303 __UNKNOWN__ Intron SNP G G A rs3864127 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:60303G>A ENST00000509152.2 + 3 411 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ATAATGGGCTGCATAATCTGA 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.226+257G>A chr4.hg19:g.60303G>A NA hg19 0.02 3.75884 GCTxCAT COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 4 6.76122 KEEP 0 4 124 66 2368 GG 1 1 0 + 19 60 541 0 0 36.745617 163 60 5508 374 ENST00000509152.2 0.104396 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 63535 63535 __UNKNOWN__ Intron SNP C C T rs9328750 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:63535C>T ENST00000509152.2 + 3 411 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) caggttcaagcgattctcctg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.226+3489C>T chr4.hg19:g.63535C>T NA hg19 0.02 -0.228064 AAGxGAT COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 11 2.407844 KEEP 1 0 0 8 282 CC 0.99257 0.607857 0 + 3 60 89 0 0 6.465755 20 60 656 55 ENST00000509152.2 0.130435 0.612407 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 67801 67801 __UNKNOWN__ 3'UTR SNP C C T rs77175674 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:67801C>T ENST00000509152.2 + 0 481 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ttttttgaggcggagtggagt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*38C>T chr4.hg19:g.67801C>T NA hg19 0.02 10.205925 AGGxGGA COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 31 11.806469 KEEP 0 10 312 149 4631 CC 1 1 0 + 17 60 494 1 0 28.014599 335 70 10197 822 ENST00000509152.2 0.048295 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68036 68036 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:68036T>C ENST00000509152.2 + 0 716 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ggattacaggtgtgagccact 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*273T>C chr4.hg19:g.68036T>C NA hg19 0.02 14.554669 AGGxGTG COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 73 45.927487 KEEP 0 5 123 196 5764 TT 1 1 0 + 13 60 393 0 0 20.905142 401 60 11563 882 ENST00000509152.2 0.031401 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68302 68302 __UNKNOWN__ 3'UTR SNP G G A rs34516014 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:68302G>A ENST00000509152.2 + 0 982 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) gtcaggctgcgctgggcatat 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*539G>A chr4.hg19:g.68302G>A NA hg19 0.02 2.824315 TGCxCTG COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 5 3.111363 KEEP 0 3 81 39 1356 GG 1 1 0 + 9 60 258 0 0 15.911202 121 60 4025 253 ENST00000509152.2 0.069231 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68443 68443 __UNKNOWN__ Intron SNP A A T rs9985516 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:68443A>T ENST00000339368.6 + 3 430 Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) tcatatatctatgaagaaacg 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000339368.6:c.430+8397A>T chr4.hg19:g.68443A>T NA hg19 0.02 -0.131486 TCTxTGA COVERED NOVEL ZNF595-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000357814.2 1 3.008785 KEEP 0 0 0 10 301 AA 0.992708 0.227502 0 + 3 60 90 0 0 7.274009 11 60 284 26 ENST00000339368.6 0.214286 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 122110 122110 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:122110T>G NA NA ZNF595 (34011 upstream) : ZNF718 (2309 downstream) NA NA NA aacagagcaatactctgtctc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.122110T>G NA hg19 0.02 -0.192751 CAAxACT COVERED NOVEL 0 2 8.723695 KEEP 1 0 0 29 836 TT 0.999997 0.490543 0 3 60 93 0 0 7.136244 16 60 415 62 0.157895 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 1183519 1183519 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:1183519A>G NA NA SPON2 (16539 upstream) : SPON2 (9296 downstream) NA NA NA gctcacacctataatcccagc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.1183519A>G NA hg19 0.02 -0.131534 CCTxTAA COVERED NOVEL 0 8 3.30973 KEEP 0 0 0 11 337 AA 0.993072 0.227586 0 3 45 93 0 0 7.801646 9 60 253 36 0.25 0.229173 MAEA 10296 __UNKNOWN__ __UNKNOWN__ 4 1303550 1303550 __UNKNOWN__ Intron SNP C C T rs116258373 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:1303550C>T ENST00000510794.1 + 1 270 MAEA_ENST00000264750.6_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000303400.4_Intron|MAEA_ENST00000505177.2_Intron|MAEA_ENST00000452175.2_Intron Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher NA NA cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346) actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819) actin binding (GO:0003779) NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) WF10(DB05389) GTAACCGTGGCGCGTTCTGGG 0.657 NA C||| 14 0.00279553 0 0.0086 5008 , , NA 16343 0 NA 0.008 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF084928 CCDS33936.1, CCDS33937.1, CCDS75090.1 4p16.3 2012-07-20 ENSG00000090316 ENSG00000090316 10296 13731 protein-coding gene gene with protein product GID complex subunit 9, FYV10 homolog (S. cerevisiae) 606801 NA 9763581 Standard NM_005882 XM_005272243 NA Approved EMP, GID9 uc003gda.3 Q7L5Y9 OTTHUMG00000160169 ENST00000510794.1:c.66+50C>T chr4.hg19:g.1303550C>T NA O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84 hg19 0.02 -0.394636 TGGxGCG COVERED NOVEL MAEA-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359516.1 0 9.028478 KEEP 0 0 0 30 1045 CC 0.999997 0.926637 0 + 30 60 876 0 0 89.458158 15 60 480 111 ENST00000510794.1 0.666667 0.92664 NELFA 7469 __UNKNOWN__ __UNKNOWN__ 4 2008911 2008911 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:2008911T>G ENST00000411638.2 - 1 226 NELFA_ENST00000542778.1_Intron|NELFA_ENST00000382882.3_Intron NM_005663.4 NP_005654.3 Q9H3P2 NELFA_HUMAN negative elongation factor complex member A NA NA gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682) NA tccagcctggttgacagcgcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF101434 CCDS3358.2 4p16.3 2013-01-31 2013-01-31 2013-01-31 ENSG00000185049 ENSG00000185049 7469 12768 protein-coding gene gene with protein product 606026 Wolf-Hirschhorn syndrome candidate 2 WHSC2 NA 10409432 Standard NM_005663 NM_005663 NA Approved NELF-A uc003gem.3 Q9H3P2 OTTHUMG00000089967 ENST00000411638.2:c.210+1565A>C chr4.hg19:g.2008911T>G NA A2A2T1|O95392 hg19 0.02 3.441383 TGGxTGA COVERED NOVEL NELFA-015 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000473007.1 22 18.140046 KEEP 0 4 98 95 2919 TT 1 1 0 - 7 60 240 1 0 15.509344 123 60 3631 340 ENST00000411638.2 0.053846 1 POLN 353497 __UNKNOWN__ __UNKNOWN__ 4 2201428 2201428 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:2201428A>T ENST00000511885.2 - 6 1068 POLN_ENST00000382865.1_Intron|POLN_ENST00000515357.1_Intron Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu NA NA double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985) nucleus (GO:0005634) cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887) kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) ctcagcctccagagtagctgg 0.532 NA DNA polymerases (catalytic subunits) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044578 CCDS3360.1 4p16.3 2012-05-18 ENSG00000130997 ENSG00000130997 353497 DNA polymerases 18870 protein-coding gene gene with protein product 610887 NA 12794064 Standard NM_181808 NM_181808 NA Approved uc003ger.2 Q7Z5Q5 OTTHUMG00000090081 ENST00000511885.2:c.715-984T>A chr4.hg19:g.2201428A>T NA A2A336|B4E158|Q4TTW4|Q6ZNF4 hg19 CCDS3360.1 0.02 -0.061387 TCCxGAG UNCOVERED NOVEL POLN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000205684.2 3 2.407245 KEEP 0 0 0 8 248 AA 0.99257 0.043461 0 - 3 60 85 0 0 7.854781 4 60 116 17 ENST00000511885.2 0.428571 0.043787 RNF4 6047 __UNKNOWN__ __UNKNOWN__ 4 2513953 2513953 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:2513953C>A ENST00000511843.1 + 6 433 RNF4_ENST00000314289.8_Intron|RNF4_ENST00000511600.1_Intron|RNF4_ENST00000511859.1_Intron|RNF4_ENST00000509258.1_3'UTR|RNF4_ENST00000541204.1_Intron|RNF4_ENST00000506706.1_Intron P78317 RNF4_HUMAN ring finger protein 4 NA NA androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|kidney(2)|lung(1) 5 all_epithelial(65;0.241) TGGTAGCTCACAGCAGGGGTT 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U95140 CCDS47001.1, CCDS54713.1 4p16.3 2013-01-09 ENSG00000063978 6047 RING-type (C3HC4) zinc fingers 10067 protein-coding gene gene with protein product 602850 NA 9479498 Standard NM_002938 NM_001185009 NA Approved RES4-26, SNURF, SLX5 uc003gfb.3 P78317 ENST00000511843.1:c.434-212C>A chr4.hg19:g.2513953C>A NA B2R6D6|D6RF58|Q49AR8 hg19 0.02 -0.289416 TCAxAGC COVERED NOVEL RNF4-011 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000360926.1 0 9.631117 KEEP 0 0 0 32 1138 CC 0.999997 0.760885 0 + 19 60 553 0 0 54.587864 14 60 463 86 ENST00000511843.1 0.575758 0.760887 SH3BP2 6452 __UNKNOWN__ __UNKNOWN__ 4 2838942 2838942 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:2838942A>G ENST00000356331.5 + 0 5328 SH3BP2_ENST00000503393.2_3'UTR|SH3BP2_ENST00000442312.2_3'UTR NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 NA NA positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) ttttagtggaaccggggtttc 0.537 NA Cherubism NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease BC022996 CCDS33944.1, CCDS54715.1, CCDS54716.1 4p16.3 2013-02-14 ENSG00000087266 6452 Pleckstrin homology (PH) domain containing, SH2 domain containing 10825 protein-coding gene gene with protein product 602104 Cherubism NA 9299232, 11381256 Standard NM_003023 NM_003023 NA Approved RES4-23, CRBM uc003gfj.4 P78314 ENST00000356331.5:c.*3381A>G chr4.hg19:g.2838942A>G NA A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315 hg19 CCDS33944.1 0.02 -0.385731 GGAxCCG COVERED NOVEL SH3BP2-007 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000362406.2 7 11.369513 KEEP 0 0 0 38 1108 AA 1 0.918171 0 + 4 60 132 0 0 9.37573 38 60 1028 92 ENST00000356331.5 0.095238 0.918171 SH3BP2 6452 __UNKNOWN__ __UNKNOWN__ 4 2841700 2841700 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:2841700G>C ENST00000356331.5 + 0 8086 SH3BP2_ENST00000503393.2_3'UTR|SH3BP2_ENST00000442312.2_3'UTR NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 NA NA positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) cacctgtaatgccagcacttt 0.433 NA Cherubism NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease BC022996 CCDS33944.1, CCDS54715.1, CCDS54716.1 4p16.3 2013-02-14 ENSG00000087266 6452 Pleckstrin homology (PH) domain containing, SH2 domain containing 10825 protein-coding gene gene with protein product 602104 Cherubism NA 9299232, 11381256 Standard NM_003023 NM_003023 NA Approved RES4-23, CRBM uc003gfj.4 P78314 ENST00000356331.5:c.*6139G>C chr4.hg19:g.2841700G>C NA A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315 hg19 CCDS33944.1 0.02 3.709698 AATxCCA COVERED NOVEL SH3BP2-007 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000362406.2 19 15.304068 KEEP 0 0 0 51 1817 GG 1 0.999968 0 + 5 60 165 1 0 10.385061 90 60 3098 220 ENST00000356331.5 0.052632 0.999968 ADD1 118 __UNKNOWN__ __UNKNOWN__ 4 2872967 2872967 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:2872967T>G ENST00000355842.3 + 2 843 ADD1_ENST00000513328.2_Intron|ADD1_ENST00000398125.1_Intron|ADD1_ENST00000503455.2_Intron|ADD1_ENST00000264758.7_Intron|ADD1_ENST00000446856.1_Intron P35611 ADDA_HUMAN adducin 1 (alpha) NA NA actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092) cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) caaagtgctgtgattacaggc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(71;505 1201 20414 34538 37449) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L07261 CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1 4p16.3 2009-04-22 ENSG00000087274 ENSG00000087274 118 243 protein-coding gene gene with protein product 102680 NA 1840603 Standard NM_014189 NM_001119 NA Approved uc003gfq.3 P35611 OTTHUMG00000122080 ENST00000355842.3:c.-21+3111T>G chr4.hg19:g.2872967T>G NA A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6 hg19 0.02 -0.359564 CTGxGAT COVERED NOVEL ADD1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000242839.1 9 8.423244 KEEP 1 0 0 28 829 TT 0.999997 0.899311 0 + 6 60 197 0 0 15.443239 31 60 887 87 ENST00000355842.3 0.162162 0.899314 HTT 3064 __UNKNOWN__ __UNKNOWN__ 4 3231480 3231480 __UNKNOWN__ Intron SNP G G A rs571644227 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:3231480G>A ENST00000355072.5 + 60 8254 HTT_ENST00000513806.1_Intron NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin NA NA anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542) autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234) beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134) breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) acacacacacgcacacaTGCG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L12392 CCDS43206.1 4p16.3 2014-09-17 2007-12-04 2007-12-04 ENSG00000197386 ENSG00000197386 3064 Endogenous ligands 4851 protein-coding gene gene with protein product 613004 huntingtin (Huntington disease) HD NA 8458085 Standard NM_002111 NM_002111 NA Approved IT15 uc021xkv.1 P42858 OTTHUMG00000159916 ENST00000355072.5:c.8110-134G>A chr4.hg19:g.3231480G>A NA Q9UQB7 hg19 CCDS43206.1 0.02 -0.15788 CACxCAC COVERED NOVEL HTT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358234.2 1 5.714654 KEEP 0 0 0 19 572 GG 0.99986 0.322761 0 + 3 60 89 0 0 6.810592 15 60 465 38 ENST00000355072.5 0.166667 0.322807 STX18 53407 __UNKNOWN__ __UNKNOWN__ 4 4491273 4491273 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:4491273G>A ENST00000505286.1 - 2 214 STX18_ENST00000306200.2_Intron Q9P2W9 STX18_HUMAN syntaxin 18 NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) caccacacccggccAGAAAAT 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028741 CCDS3377.1 4p16.3-p16.2 2013-09-23 ENSG00000168818 ENSG00000168818 53407 15942 protein-coding gene gene with protein product 606046 NA 10788491 Standard NM_016930 NA Approved Ufe1 uc003gic.3 Q9P2W9 OTTHUMG00000090331 ENST00000505286.1:c.169-17840C>T chr4.hg19:g.4491273G>A NA Q596L3|Q5TZP5 hg19 0.02 -0.19299 CCCxGCC COVERED NOVEL STX18-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358558.1 9 4.213763 KEEP 1 0 0 14 492 GG 0.995343 0.455625 0 - 3 60 94 0 0 7.310078 15 60 497 54 ENST00000505286.1 0.166667 0.457757 EVC2 132884 __UNKNOWN__ __UNKNOWN__ 4 5693005 5693005 __UNKNOWN__ Missense_Mutation SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:5693005T>A ENST00000344408.5 - 4 559 c.506A>T c.(505-507)cAg>cTg p.Q169L EVC2_ENST00000310917.2_Missense_Mutation_p.Q89L|EVC2_ENST00000344938.1_Missense_Mutation_p.Q169L NM_147127.4 NP_667338.3 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 169 NA smoothened signaling pathway (GO:0007224) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TGCACATTTCTGAAAAATTAC 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 72 75 74 NA NA NA 4 NA NA 5693005 2203 4299 6502 SO:0001583 missense AB083067 CCDS3382.2, CCDS54718.1 4p16.2-p16.1 2008-08-01 2008-08-01 ENSG00000173040 ENSG00000173040 132884 19747 protein-coding gene gene with protein product 607261 NA 12136126, 12571802 Standard NM_147127 NM_147127 NA Approved LBN uc003gij.3 Q86UK5 OTTHUMG00000125493 ENST00000344408.5:c.506A>T chr4.hg19:g.5693005T>A ENSP00000342144:p.Gln169Leu NA Q86YT3|Q86YT4|Q8NG49 hg19 CCDS3382.2 0.02 -0.131568 TTCxGAA COVERED . . . . . . . . . . T 16.94 3.260825 0.59431 . . ENSG00000173040 ENST00000344938;ENST00000310917;ENST00000344408 T;T;T 0.76709 -1.04;-1.02;-1.03 4.74 3.56 0.40772 . 0.000000 0.85682 D 0.000000 T 0.67524 0.2902 L 0.49126 1.545 0.38464 D 0.947297 P 0.41366 0.747 B 0.36418 0.224 T 0.68477 -0.5398 10 0.72032 D 0.01 -24.3747 6.9233 0.24401 0.0:0.1051:0.0:0.8949 . 169 Q86UK5 LBN_HUMAN L 169;89;169 ENSP00000339954:Q169L;ENSP00000311683:Q89L;ENSP00000342144:Q169L ENSP00000311683:Q89L Q - 2 0 EVC2 5743906 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.321000 0.43805 0.690000 0.31570 0.459000 0.35465 CAG NOVEL EVC2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000289822.2 1 4.51405 KEEP 0 0 0 15 483 TT 0.99649 0.228369 0 - 10 60 306 0 0 31.222651 5 60 153 46 ENST00000344408.5 0.666667 0.229173 EVC 2121 __UNKNOWN__ __UNKNOWN__ 4 5760069 5760069 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:5760069A>C ENST00000264956.6 + 11 1747 EVC_ENST00000382674.2_Intron NM_153717.2 NP_714928.1 P57679 EVC_HUMAN Ellis van Creveld syndrome NA NA cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224) ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) catggcagccacaggaaacta 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF216184 CCDS3383.1 4p16 2008-07-03 ENSG00000072840 ENSG00000072840 2121 3497 protein-coding gene gene with protein product 604831 NA 10700184 Standard NM_153717 NA Approved DWF-1 uc003gil.1 P57679 OTTHUMG00000090427 ENST00000264956.6:c.1563+1980A>C chr4.hg19:g.5760069A>C NA hg19 CCDS3383.1 0.02 -0.31577 GCCxCAG COVERED NOVEL EVC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206859.1 1 11.733669 KEEP 0 0 0 39 1176 AA 1 0.835716 0 + 22 60 743 0 0 75.209734 12 60 349 104 ENST00000264956.6 0.647059 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 8983474 8983474 __UNKNOWN__ IGR SNP A A C rs376870754 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:8983474A>C NA NA HMX1 (109931 upstream) : AC073648.1 (41584 downstream) NA NA NA CTGCCTGACAAGGATGTCTTT 0.512 NA .||| 4 0.000798722 0 0 5008 , , NA 25037 0.004 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.8983474A>C NA hg19 0.02 -0.263117 ACAxGGA COVERED NOVEL 0 1 4.212474 KEEP 1 0 0 14 444 AA 0.995343 0.690438 0 12 60 391 0 0 36.284289 17 60 494 62 0.413793 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 8983500 8983500 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:8983500A>G NA NA HMX1 (109957 upstream) : AC073648.1 (41558 downstream) NA NA NA TCCTTTTTGCATGTACAGAAG 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.8983500A>G NA hg19 0.02 -0.226655 TGCxTGT COVERED NOVEL 0 1 3.911824 KEEP 1 0 0 13 408 AA 0.994391 0.57966 0 6 60 168 0 0 13.688528 19 60 546 55 0.24 0.58293 CC2D2A 57545 __UNKNOWN__ __UNKNOWN__ 4 15483042 15483042 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:15483042T>G ENST00000503292.1 + 5 427 CC2D2A_ENST00000413206.1_Intron|CC2D2A_ENST00000515124.1_3'UTR|CC2D2A_ENST00000389652.5_Intron|CC2D2A_ENST00000438599.2_3'UTR|CC2D2A_ENST00000511544.1_3'UTR|CC2D2A_ENST00000424120.1_Intron|CC2D2A_ENST00000513811.1_Intron NM_001080522.2 NP_001073991.2 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A NA NA cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224) ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 ggctgaggcatgagaattgct 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037766, EU450799 CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1 4p15.33 2014-09-17 2007-10-19 ENSG00000048342 ENSG00000048342 57545 29253 protein-coding gene gene with protein product Meckel syndrome, type 6 612013 NA 10718198, 18513680 Standard NM_001080522 NM_001080522 NA Approved KIAA1345, MKS6, JBTS9 uc010idv.2 Q9P2K1 OTTHUMG00000160255 ENST00000503292.1:c.247+591T>G chr4.hg19:g.15483042T>G NA A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7 hg19 CCDS47026.1 0.02 -0.420881 GCAxGAG COVERED NOVEL CC2D2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359906.2 4 3.366332 KEEP 0 2 74 37 1063 TT 1 0.954491 0 + 4 60 122 1 0 8.333966 39 60 1064 97 ENST00000503292.1 0.093023 0.954491 LDB2 9079 __UNKNOWN__ __UNKNOWN__ 4 16760780 16760780 __UNKNOWN__ Splice_Site SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:16760780C>T ENST00000515064.1 - 2 312 c.e2+1 LDB2_ENST00000304523.5_Splice_Site|LDB2_ENST00000502640.1_Splice_Site|LDB2_ENST00000441778.2_Splice_Site O43679 LDB2_HUMAN LIM domain binding 2 NA NA epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019) nucleus (GO:0005634)|transcription factor complex (GO:0005667) LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TTCTTTCTTACTGTATCGCTT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 76 75 75 NA NA NA 4 NA NA 16760780 2203 4300 6503 SO:0001630 splice_region_variant AF068651 CCDS3420.1, CCDS47031.1 4p16 2008-08-01 ENSG00000169744 ENSG00000169744 9079 6533 protein-coding gene gene with protein product 603450 NA 9853615, 9880598, 10861853 Standard NM_001290 NA Approved CLIM1, LDB1 uc003goz.3 O43679 OTTHUMG00000048212 ENST00000515064.1:c.235+1G>A chr4.hg19:g.16760780C>T NA O60619|O75480 hg19 0.02 -0.368402 TTAxTGT COVERED . . . . . . . . . . C 23.0 4.363530 0.82353 . . ENSG00000169744 ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732 . . . 5.53 5.53 0.82687 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.8129 0.92065 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . LDB2 16369878 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 7.776000 0.85560 2.763000 0.94921 0.561000 0.74099 . NOVEL LDB2-007 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000359767.1 3 38.525152 KEEP 0 0 0 128 4557 CC 1 0.899314 0 Intron - 4 60 102 1 0 6.387688 38 60 1289 223 ENST00000515064.1 0.095238 0.899314 AC006160.5 0 __UNKNOWN__ __UNKNOWN__ 4 17611000 17611000 __UNKNOWN__ RNA SNP G G A rs142677950 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:17611000G>A ENST00000511010.1 - 0 537 NA NA NA ggccaacatggtgaaaccccg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000511010.1: chr4.hg19:g.17611000G>A NA hg19 0.02 -0.271912 ATGxTGA UNCOVERED NOVEL AC006160.5-001 KNOWN basic antisense NA antisense OTTHUMT00000360040.1 23 2.407812 KEEP 8 0 0 8 278 GG 0 0 0 - 3 21 88 1 0 6.365813 20 60 644 57 ENST00000511010.1 0.130435 0.717315 PACRGL 133015 __UNKNOWN__ __UNKNOWN__ 4 20729444 20729444 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:20729444T>C ENST00000360916.5 + 0 1537 PACRGL_ENST00000295290.8_3'UTR|PACRGL_ENST00000513459.1_3'UTR|PACRGL_ENST00000444671.2_3'UTR|PACRGL_ENST00000507634.1_Intron NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like NA NA endometrium(2)|lung(7)|prostate(1) 10 Cggtcttgctttgttgcccag 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098692 CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1 4p15.31 2008-10-02 2008-10-02 2008-10-02 ENSG00000163138 ENSG00000163138 133015 28442 protein-coding gene gene with protein product chromosome 4 open reading frame 28 C4orf28 NA 12477932 Standard NM_145048 NM_145048 NA Approved MGC29898 uc010iek.3 Q8N7B6 OTTHUMG00000128550 ENST00000360916.5:c.*480T>C chr4.hg19:g.20729444T>C NA B2RDB9|B4DFF8|B4DMN7|Q8TBA8 hg19 CCDS3427.1 0.02 -0.227974 GCTxTGT COVERED NOVEL PACRGL-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000250393.3 8 7.823022 KEEP 0 0 0 26 813 TT 0.999957 0.612381 0 + 3 60 97 0 0 7.151784 22 60 607 62 ENST00000360916.5 0.12 0.612407 KCNIP4 80333 __UNKNOWN__ __UNKNOWN__ 4 21764761 21764761 __UNKNOWN__ Intron SNP C C T rs717531 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:21764761C>T ENST00000382152.2 - 1 229 KCNIP4_ENST00000447367.2_Intron NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 NA NA dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) AATTCCTTCACTGTGGTTGAA 0.413 NA T||| 3027 0.604433 0.9281 0.4827 5008 , , NA 20743 0.3532 NA 0.7256 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF453244 CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1 4p15.32 2013-01-10 ENSG00000185774 ENSG00000185774 80333 EF-hand domain containing 30083 protein-coding gene gene with protein product 608182 NA 11805342, 11847232 Standard NM_025221 XM_005248190 NA Approved CALP, KCHIP4, MGC44947 uc003gqh.1 Q6PIL6 OTTHUMG00000128557 ENST00000382152.2:c.61+185432G>A chr4.hg19:g.21764761C>T NA Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4 hg19 CCDS43216.1 0.02 -0.342129 TCAxTGT COVERED NOVEL KCNIP4-004 KNOWN non_canonical_conserved|basic|CCDS protein_coding NA protein_coding OTTHUMT00000360407.3 0 19.262183 KEEP 0 0 0 64 2298 CC 1 0.865745 0 - 7 60 223 0 0 17.670324 32 60 1099 145 ENST00000382152.2 0.179487 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 24612688 24612688 __UNKNOWN__ IGR SNP A A G rs4697462 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:24612688A>G NA NA DHX15 (26515 upstream) : RP11-496D24.2 (48790 downstream) NA NA NA aagaggaagaagaagaagaag 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.24612688A>G NA hg19 0.02 -0.2982 AGAxGAA UNCOVERED NOVEL 0 36 2.406647 KEEP 13 0 0 8 249 AA 0 0 0 3 60 101 0 0 10.069918 2 60 60 71 0.6 0.78106 ANAPC4 29945 __UNKNOWN__ __UNKNOWN__ 4 25393865 25393865 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:25393865G>C ENST00000315368.3 + 10 847 ANAPC4_ENST00000510092.1_Intron NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TTCTGACATAGTCTTTCTGAT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF191338 CCDS3434.1, CCDS68684.1 4p15.31 2011-06-15 ENSG00000053900 ENSG00000053900 29945 Anaphase promoting complex subunits 19990 protein-coding gene gene with protein product 606947 NA 6180011 Standard NM_013367 NM_013367 NA Approved APC4 uc003gro.3 Q9UJX5 OTTHUMG00000097753 ENST00000315368.3:c.706-95G>C chr4.hg19:g.25393865G>C NA A8K8H1|E9PCR4|Q6PCC6|Q9NSH6 hg19 CCDS3434.1 0.02 -0.157885 ATAxTCT COVERED NOVEL ANAPC4-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000214986.1 0 8.126537 KEEP 0 0 0 27 967 GG 0.999988 0.322803 0 + 8 60 245 0 0 23.209676 9 60 309 60 ENST00000315368.3 0.470588 0.322807 KLF3 51274 __UNKNOWN__ __UNKNOWN__ 4 38682114 38682114 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:38682114G>C ENST00000261438.5 + 2 266 KLF3_ENST00000514033.1_Intron NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) NA NA cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 ggattacaggggtgagccacc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF285837 CCDS3444.1 4p16.1-p15.2 2013-01-08 ENSG00000109787 ENSG00000109787 51274 Kruppel-like transcription factors, Zinc fingers, C2H2-type 16516 protein-coding gene gene with protein product basic Kruppel-like factor 609392 NA 18391014 Standard NM_016531 NA Approved BKLF uc003gth.4 P57682 OTTHUMG00000097821 ENST00000261438.5:c.-39-94G>C chr4.hg19:g.38682114G>C NA Q6PIR1|Q86TN0|Q9P2X6 hg19 CCDS3444.1 0.02 -0.403531 AGGxGTG COVERED NOVEL KLF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215093.2 8 14.582023 KEEP 0 1 36 61 2064 GG 1 0.934492 0 + 3 60 104 0 0 7.107807 40 60 1339 124 ENST00000261438.5 0.069767 0.934492 WDR19 57728 __UNKNOWN__ __UNKNOWN__ 4 39284300 39284300 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:39284300G>A ENST00000399820.3 + 37 4196 WDR19_ENST00000288634.7_Intron NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 NA NA ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391) large_intestine(1) 1 ttacaggtgtgagccaccgtg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046858, AY029257 CCDS47042.1 4p14 2014-02-21 ENSG00000157796 ENSG00000157796 57728 WD repeat domain containing, Intraflagellar transport homologs 18340 protein-coding gene gene with protein product intraflagellar transport 144 homolog (Chlamydomonas) 608151 NA 12906858, 22019273 Standard XM_005262658 NA Approved Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13 uc003gtv.3 Q8NEZ3 OTTHUMG00000160466 ENST00000399820.3:c.4027-2807G>A chr4.hg19:g.39284300G>A NA B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4 hg19 CCDS47042.1 0.02 -0.114029 TGTxAGC UNCOVERED NOVEL WDR19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360689.1 8 3.009899 KEEP 4 0 0 10 358 GG 0.992708 0.161282 0 + 3 60 82 0 0 6.832052 8 60 273 38 ENST00000399820.3 0.272727 0.162467 UBE2K 3093 __UNKNOWN__ __UNKNOWN__ 4 39767474 39767474 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:39767474C>T ENST00000445950.2 + 5 451 UBE2K_ENST00000295963.6_Intron|UBE2K_ENST00000503368.1_Intron|UBE2K_ENST00000438068.2_Intron|UBE2K_ENST00000261427.5_Intron P61086 UBE2K_HUMAN ubiquitin-conjugating enzyme E2K NA NA intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450) large_intestine(1)|lung(1)|ovary(2) 4 ttgcctgtaaccccagcactt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(101;689 1592 16105 29682 31745) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U58522 CCDS33976.1, CCDS47043.1, CCDS47044.1 4p14 2011-05-19 2011-05-19 2007-12-04 ENSG00000078140 ENSG00000078140 3093 Ubiquitin-conjugating enzymes E2 4914 protein-coding gene gene with protein product 602846 huntingtin interacting protein 2, ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast) HIP2 NA 8702625, 17873885 Standard NM_005339 NM_005339 NA Approved HYPG, UBC1 uc003guu.4 P61086 OTTHUMG00000160543 ENST00000445950.2:c.300-8980C>T chr4.hg19:g.39767474C>T NA A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3 hg19 CCDS47043.1 0.02 -0.10527 TAAxCCC UNCOVERED NOVEL UBE2K-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000361066.1 4 2.407856 KEEP 0 0 0 8 280 CC 0.99257 0.138793 0 + 3 57 96 0 0 8.543339 6 60 206 29 ENST00000445950.2 0.333333 0.139832 SHISA3 152573 __UNKNOWN__ __UNKNOWN__ 4 42403492 42403492 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:42403492A>G ENST00000319234.4 + 0 959 NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 NA NA multicellular organismal development (GO:0007275) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 TGAATCCACAACTCAGTCAGA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 30 34 32 NA NA NA 4 NA NA 42403492 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC012029 CCDS33979.1 4p13 2013-07-31 2013-07-31 ENSG00000178343 ENSG00000178343 152573 Shisa homologs 25159 protein-coding gene gene with protein product shisa homolog 3 (Xenopus laevis) NA Standard NM_001080505 NM_001080505 NA Approved hShisa3 uc003gwp.3 A0PJX4 OTTHUMG00000161043 ENST00000319234.4:c.*24A>G chr4.hg19:g.42403492A>G NA A0PJX3|Q96EQ5 hg19 CCDS33979.1 0.02 -0.341878 ACAxCTC COVERED NOVEL SHISA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363539.1 4 19.45719 KEEP 0 1 6 67 1945 AA 1 0.865745 0 + 3 60 100 0 0 6.877154 35 60 961 135 ENST00000319234.4 0.078947 0.865745 RP11-1E6.1 0 __UNKNOWN__ __UNKNOWN__ 4 43345653 43345653 __UNKNOWN__ RNA SNP T T C rs147486799 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:43345653T>C ENST00000507388.1 + 0 430 NA NA NA ccctccctccttccttccttc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000507388.1: chr4.hg19:g.43345653T>C NA hg19 0.02 -0.219228 TCCxTCC UNCOVERED NOVEL RP11-1E6.1-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000360574.2 22 2.707608 KEEP 15 0 0 9 269 TT 0 0 0 + 3 60 96 0 0 7.434062 16 60 456 70 ENST00000507388.1 0.157895 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 43563634 43563634 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:43563634T>C NA NA RP11-324J13.2 (69074 upstream) : RN7SL691P (36924 downstream) NA NA NA gatcacgccattgcactccag 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.43563634T>C NA hg19 0.02 -0.192738 CCAxTGC UNCOVERED NOVEL 0 30 2.406676 KEEP 25 0 0 8 242 TT 0 0 0 3 22 100 0 0 7.693934 18 60 492 53 0.142857 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 44814052 44814052 __UNKNOWN__ IGR SNP A A G rs149405785 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:44814052A>G NA NA GNPDA2 (85440 upstream) : RP11-362I1.1 (197504 downstream) NA NA NA ttacaggtgtaagccactgca 0.483 NA G||| 30 0.00599042 0.0219 0.0014 5008 , , NA 17169 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.44814052A>G NA hg19 0.02 -0.122779 TGTxAGC UNCOVERED NOVEL 0 3 2.407098 KEEP 1 0 0 8 244 AA 0 0 0 3 60 97 0 0 8.082285 10 60 280 30 0.230769 0.196312 CORIN 10699 __UNKNOWN__ __UNKNOWN__ 4 47628492 47628492 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:47628492G>A ENST00000273857.4 - 17 2244 c.2245C>T c.(2245-2247)Cgg>Tgg p.R749W CORIN_ENST00000502252.1_Missense_Mutation_p.R682W|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000505909.1_Missense_Mutation_p.R712W|CORIN_ENST00000508498.1_Missense_Mutation_p.R610W NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 749 SRCR. NA female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050) cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GTCAGCCACCGCGGCTCTTTC 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 176 168 171 NA NA NA 4 NA NA 47628492 2203 4300 6503 SO:0001583 missense AF133845 CCDS3477.1, CCDS63958.1, CCDS75122.1 4p13-p12 2011-08-31 2005-08-17 ENSG00000145244 ENSG00000145244 10699 Serine peptidases / Transmembrane 19012 protein-coding gene gene with protein product 605236 corin, serine protease NA 10329693 Standard NM_006587 NA Approved PRSC, CRN, ATC2, Lrp4, TMPRSS10 uc003gxm.3 Q9Y5Q5 OTTHUMG00000099441 ENST00000273857.4:c.2245C>T chr4.hg19:g.47628492G>A ENSP00000273857:p.Arg749Trp NA B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2 hg19 CCDS3477.1 0.02 -0.403445 ACCxCGG COVERED . . . . . . . . . . G 8.774 0.926695 0.18056 . . ENSG00000145244 ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909 T;T;T;T 0.60920 0.15;0.15;0.15;0.72 5.26 3.38 0.38709 Speract/scavenger receptor-related (2); 0.847295 0.10512 N 0.665971 T 0.39172 0.1068 N 0.19112 0.55 0.19575 N 0.999969 D;D 0.59357 0.985;0.964 B;B 0.40534 0.332;0.153 T 0.10109 -1.0644 10 0.37606 T 0.19 . 7.7742 0.29026 0.0:0.1303:0.5976:0.2721 . 682;749 B4E1Y7;Q9Y5Q5 .;CORIN_HUMAN W 749;610;682;712 ENSP00000273857:R749W;ENSP00000425597:R610W;ENSP00000424212:R682W;ENSP00000425401:R712W ENSP00000273857:R749W R - 1 2 CORIN 47323249 0.001000 0.12720 0.025000 0.17156 0.003000 0.03518 1.031000 0.30165 1.442000 0.47568 0.650000 0.86243 CGG NOVEL CORIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216906.2 2 6.01938 KEEP 0 0 0 20 703 GG 0.999863 0.934364 0 - 16 60 467 0 0 41.806656 28 60 893 96 ENST00000273857.4 0.363636 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49105670 49105670 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49105670A>T NA NA CWH43 (41574 upstream) : AC118282.3 (93549 downstream) NA NA NA attccgttccattccattcgt 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49105670A>T NA hg19 0.02 -0.210455 TCCxTTC COVERED NOVEL 0 15 6.920277 KEEP 21 0 0 23 702 AA 0.999366 0.52183 0 3 36 92 0 0 7.832768 8 60 226 72 0.272727 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49105675 49105675 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49105675A>T NA NA CWH43 (41579 upstream) : AC118282.3 (93544 downstream) NA NA NA gttccattccattcgtgttga 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49105675A>T NA hg19 0.02 -0.175355 TCCxTTC COVERED NOVEL 0 13 2.341024 KEEP 15 1 32 19 581 AA 0.995343 0.385603 0 3 40 90 1 0 7.632671 8 49 227 56 0.272727 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49151456 49151456 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49151456C>G NA NA CWH43 (87360 upstream) : AC118282.3 (47763 downstream) NA NA NA ccattccattccattccattc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49151456C>G NA hg19 0.02 17.198527 ATTxCAT COVERED NOVEL 0 136 29.271184 KEEP 477 44 1577 647 22140 CC 1 1 0 19 40 641 1 2 54.625542 57 47 1775 1863 0.25 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49156193 49156193 __UNKNOWN__ IGR SNP T T G rs372265090|rs4694924 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49156193T>G NA NA CWH43 (92097 upstream) : AC118282.3 (43026 downstream) NA NA NA cattccactctggttgattcc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49156193T>G NA hg19 0.02 -0.096484 CTCxGGT UNCOVERED NOVEL 0 9 3.911737 KEEP 14 0 0 13 406 TT 0 0 0 2 37 66 0 1 6.724826 1 11 30 39 0.666667 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49159818 49159818 __UNKNOWN__ IGR SNP C C T rs7658957 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49159818C>T NA NA CWH43 (95722 upstream) : AC118282.3 (39401 downstream) NA NA NA cctctgcctcccaggttcaag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49159818C>T NA hg19 0.02 1.517404 CTCxCAG COVERED NOVEL 0 13 5.564726 KEEP 4 1 12 23 789 CC 0.999909 0.973877 0 5 60 155 0 0 11.791915 28 60 931 106 0.151515 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49160676 49160676 __UNKNOWN__ IGR SNP A A T rs9986052 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49160676A>T NA NA CWH43 (96580 upstream) : AC118282.3 (38543 downstream) NA NA NA ggatggactcaatctcctgac 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49160676A>T NA hg19 0.02 0.977924 CTCxATC COVERED NOVEL 0 17 6.91887 KEEP 19 0 0 23 693 AA 0.999859 0.999789 0 5 60 144 0 0 9.140178 60 60 1789 201 0.076923 0.99993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49160818 49160818 __UNKNOWN__ IGR SNP C C T rs77620108 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49160818C>T NA NA CWH43 (96722 upstream) : AC118282.3 (38401 downstream) NA NA NA gtcatggtaccggcttcttgt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49160818C>T NA hg19 0.02 -0.263114 TACxGGC COVERED NOVEL 0 6 3.610494 KEEP 0 0 0 12 377 CC 0.993634 0.689252 0 3 40 91 0 0 7.372955 11 60 345 46 0.214286 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49162730 49162730 __UNKNOWN__ IGR SNP G G A rs59580227 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49162730G>A NA NA CWH43 (98634 upstream) : AC118282.3 (36489 downstream) NA NA NA cgaggagggcggatcacgagg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49162730G>A NA hg19 0.02 -0.289443 GGCxGAT COVERED NOVEL 0 10 3.310244 KEEP 8 0 0 11 362 GG 0.99254 0.775233 0 4 25 119 0 0 9.27973 18 60 591 70 0.181818 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49162824 49162824 __UNKNOWN__ IGR SNP G G C rs201361523 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49162824G>C NA NA CWH43 (98728 upstream) : AC118282.3 (36395 downstream) NA NA NA gtggtggcgcgcgcctgtaat 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49162824G>C NA hg19 0.02 -0.33314 CGCxCGC COVERED NOVEL 0 13 3.912501 KEEP 3 0 0 13 444 GG 0.993634 0.883216 0 4 28 133 1 0 10.158581 25 60 802 72 0.137931 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49165474 49165474 __UNKNOWN__ IGR SNP C C T rs2932366 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49165474C>T NA NA CWH43 (101378 upstream) : AC118282.3 (33745 downstream) NA NA NA CAGTTCTCTCCTTAATCCACG 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49165474C>T NA hg19 0.02 3.037839 CTCxTTA COVERED NOVEL 0 25 7.398546 KEEP 141 5 161 81 2800 CC 1 0.999998 0 8 44 239 0 0 15.215368 104 60 3509 486 0.071429 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49165545 49165545 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49165545A>G NA NA CWH43 (101449 upstream) : AC118282.3 (33674 downstream) NA NA NA AAGAGCAACAAGAAACGAATA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49165545A>G NA hg19 0.02 5.285807 ACAxGAA COVERED NOVEL 0 33 9.440113 KEEP 142 6 202 102 3341 AA 1 1 0 9 22 285 1 0 17.746431 152 60 4593 578 0.055901 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49239649 49239649 __UNKNOWN__ IGR SNP G G C rs925089 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49239649G>C NA NA AC118282.4 (28184 upstream) : AC119751.5 (345392 downstream) NA NA NA tactccttaagtctcctaagt 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49239649G>C NA hg19 0.02 -0.219313 TAAxTCT COVERED NOVEL 0 4 3.009979 KEEP 12 0 0 10 369 GG 0.99254 0.548763 0 4 21 131 0 0 10.23599 21 60 718 61 0.16 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49243525 49243525 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49243525A>G NA NA AC118282.4 (32060 upstream) : AC119751.5 (341516 downstream) NA NA NA tgggattacaagtgtgagcca 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49243525A>G NA hg19 0.02 -0.289447 ACAxGTG COVERED NOVEL 0 8 3.912249 KEEP 0 0 0 13 423 AA 0.994391 0.756619 0 3 39 102 1 0 7.397447 27 60 816 67 0.1 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49244932 49244932 __UNKNOWN__ IGR SNP C C T rs201474862 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49244932C>T NA NA AC118282.4 (33467 upstream) : AC119751.5 (340109 downstream) NA NA NA CTGATCATTGCTATTTTCTTA 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49244932C>T NA hg19 0.02 1.327056 TTGxTAT COVERED NOVEL 0 0 4.751035 KEEP 0 1 35 28 1002 CC 0.999997 0.999723 0 11 60 327 0 0 23.674855 75 60 2578 156 0.127907 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49262393 49262393 __UNKNOWN__ IGR SNP G G A rs560792099 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49262393G>A NA NA AC118282.4 (50928 upstream) : AC119751.5 (322648 downstream) NA NA NA TGGGCATggcgtggtgactca 0.453 NA .||| 4 0.000798722 0.0023 0.0014 5008 , , NA 98434 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49262393G>A NA hg19 0.02 -0.157832 GGCxTGG UNCOVERED NOVEL 0 16 2.407908 KEEP 31 0 0 8 287 GG 0 0 0 3 24 91 0 0 7.010944 15 47 444 69 0.166667 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49262656 49262656 __UNKNOWN__ IGR SNP G G A rs4118724 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49262656G>A NA NA AC118282.4 (51191 upstream) : AC119751.5 (322385 downstream) NA NA NA atgacagagtgagagtccgtc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49262656G>A NA hg19 0.02 -0.219306 AGTxAGA COVERED NOVEL 0 17 2.708872 KEEP 17 0 0 9 320 GG 0.99257 0.54878 0 4 27 113 0 0 8.437062 21 50 721 64 0.16 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49262717 49262717 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49262717C>T NA NA AC118282.4 (51252 upstream) : AC119751.5 (322324 downstream) NA NA NA Aggtggctcccacctacatat 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49262717C>T NA hg19 0.02 -0.210519 TCCxACC COVERED NOVEL 0 15 2.708824 KEEP 10 0 0 9 322 CC 0.99257 0.518282 0 3 60 92 1 0 6.892532 18 60 586 51 0.142857 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49263447 49263447 __UNKNOWN__ IGR SNP G G A rs113525815 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49263447G>A NA NA AC118282.4 (51982 upstream) : AC119751.5 (321594 downstream) NA NA NA aagcttagccgggcatggtga 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49263447G>A NA hg19 0.02 1.07648 GCCxGGC COVERED NOVEL 0 40 4.514124 KEEP 11 0 0 15 500 GG 0.995343 0.995238 0 5 48 153 0 0 9.571219 75 50 2421 165 0.0625 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49268263 49268263 __UNKNOWN__ IGR SNP A A G rs4118706 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49268263A>G NA NA AC118282.4 (56798 upstream) : AC119751.5 (316778 downstream) NA NA NA gcactttgggaggccaaggtg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49268263A>G NA hg19 0.02 1.572912 GGGxGGC COVERED NOVEL 0 32 2.643541 KEEP 33 1 35 21 673 AA 0.999366 0.999261 0 5 49 173 0 0 11.623466 73 50 2204 211 0.064103 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49268902 49268902 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49268902C>T NA NA AC118282.4 (57437 upstream) : AC119751.5 (316139 downstream) NA NA NA ctgggtttcgctatgttggcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49268902C>T NA hg19 0.02 -0.342083 TCGxTAT COVERED NOVEL 0 8 2.403284 KEEP 2 0 0 8 274 CC 0.99257 0.859313 0 4 49 106 0 0 7.222396 29 50 985 62 0.121212 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49268904 49268904 __UNKNOWN__ IGR SNP A A T rs4342169 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49268904A>T NA NA AC118282.4 (57439 upstream) : AC119751.5 (316137 downstream) NA NA NA gggtttcgctatgttggccag 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49268904A>T NA hg19 0.02 -0.385744 GCTxTGT COVERED NOVEL 0 9 2.707734 KEEP 2 0 0 9 269 AA 0.99254 0.911321 0 6 50 171 0 0 12.846384 31 50 855 71 0.162162 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49268990 49268990 __UNKNOWN__ IGR SNP C C T rs28504514 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49268990C>T NA NA AC118282.4 (57525 upstream) : AC119751.5 (316051 downstream) NA NA NA aggcatgagccgctgtgccca 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49268990C>T NA hg19 0.02 1.456117 AGCxGCT COVERED NOVEL 0 29 4.51428 KEEP 26 0 0 15 503 CC 0.992708 0.982326 0 4 49 121 0 0 7.855825 49 51 1552 134 0.075472 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49269038 49269038 __UNKNOWN__ IGR SNP C C G rs374709903 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49269038C>G NA NA AC118282.4 (57573 upstream) : AC119751.5 (316003 downstream) NA NA NA AAACAGATCACAGGGCATCAA 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49269038C>G NA hg19 0.02 -0.166654 TCAxAGG UNCOVERED NOVEL 0 17 2.40787 KEEP 28 0 0 8 283 CC 0 0 0 4 27 133 0 0 11.068171 14 44 454 62 0.222222 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49273165 49273165 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49273165G>A NA NA AC118282.4 (61700 upstream) : AC119751.5 (311876 downstream) NA NA NA TTGCCTGGAGGCTGCTGCCTG 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49273165G>A NA hg19 0.02 -0.315208 GAGxCTG COVERED NOVEL 0 0 3.009018 KEEP 5 0 0 10 317 GG 0.99254 0.812359 0 5 41 118 0 0 8.517484 23 60 757 59 0.178571 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49293909 49293909 __UNKNOWN__ IGR SNP G G C rs9631690 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49293909G>C NA NA AC118282.4 (82444 upstream) : AC119751.5 (291132 downstream) NA NA NA agacctgagagagaccaggga 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49293909G>C NA hg19 0.02 -0.192965 AGAxAGA UNCOVERED NOVEL 0 1 2.407743 KEEP 8 0 0 8 272 GG 0 0 0 5 21 152 0 0 12.580578 16 22 500 38 0.238095 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49294457 49294457 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49294457G>C NA NA AC118282.4 (82992 upstream) : AC119751.5 (290584 downstream) NA NA NA tgggacagacgggagagtccc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49294457G>C NA hg19 0.02 -0.06141 GACxGGA UNCOVERED NOVEL 0 11 3.905234 KEEP 41 0 0 13 439 GG 0 0 0 2 23 71 0 0 6.395636 4 23 142 90 0.333333 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49323398 49323398 __UNKNOWN__ IGR SNP T T C rs75772004 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49323398T>C NA NA AC118282.4 (111933 upstream) : AC119751.5 (261643 downstream) NA NA NA tctgtctgtctCATTGGTTGG 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49323398T>C NA hg19 0.02 3.891472 GTCxCAT COVERED NOVEL 0 39 2.741841 KEEP 31 1 34 21 636 TT 0.99986 0.999828 0 7 40 231 1 0 16.097485 74 60 2152 192 0.08642 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49323599 49323599 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49323599C>G NA NA AC118282.4 (112134 upstream) : AC119751.5 (261442 downstream) NA NA NA AGGGTCTTGTCTGGCTCTTCT 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49323599C>G NA hg19 0.02 -0.245613 TGTxTGG COVERED NOVEL 0 5 2.348098 KEEP 19 1 14 13 442 CC 0.992708 0.63667 0 3 40 93 0 0 6.695079 23 40 762 58 0.115385 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49512297 49512297 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49512297A>T NA NA AC118282.4 (300832 upstream) : AC119751.5 (72744 downstream) NA NA NA ggtagcaactacctagtgcga 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49512297A>T NA hg19 0.02 -0.429578 ACTxCCT COVERED NOVEL 0 6 5.415794 KEEP 2 0 0 18 545 AA 0.999859 0.954357 0 4 60 107 0 0 6.758139 41 60 1134 102 0.088889 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49514971 49514971 __UNKNOWN__ IGR SNP A A G rs9799761 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49514971A>G NA NA AC118282.4 (303506 upstream) : AC119751.5 (70070 downstream) NA NA NA TTGGAAGCGGATTCAGAGGAC 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49514971A>G NA hg19 0.02 -0.324493 CGGxTTC COVERED NOVEL 0 3 3.309989 KEEP 11 0 0 11 346 AA 0.992708 0.829622 0 13 45 448 0 0 40.779131 23 60 661 82 0.361111 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49515784 49515784 __UNKNOWN__ IGR SNP T T A rs28521281 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49515784T>A NA NA AC118282.4 (304319 upstream) : AC119751.5 (69257 downstream) NA NA NA tctccagccatccccaggttc 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49515784T>A NA hg19 0.02 3.093693 CCAxCCC COVERED NOVEL 0 11 2.740617 KEEP 18 4 110 48 1470 TT 1 0.999999 0 10 44 296 0 0 19.520805 108 50 3085 278 0.084746 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49515855 49515855 __UNKNOWN__ IGR SNP T T A rs374280136 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49515855T>A NA NA AC118282.4 (304390 upstream) : AC119751.5 (69186 downstream) NA NA NA CTCGGGAGAATATGAGCGGTC 0.622 NA N||| 114 0.0227636 0.0628 0.0072 5008 , , NA 335117 0.003 NA 0.0119 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49515855T>A NA hg19 0.02 2.837596 GAAxATG COVERED NOVEL 0 9 6.989178 KEEP 28 2 65 46 1407 TT 1 0.999991 0 13 44 385 0 0 27.699157 91 46 2483 248 0.125 0.999991 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49515856 49515856 __UNKNOWN__ IGR SNP A A G rs368039405 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49515856A>G NA NA AC118282.4 (304391 upstream) : AC119751.5 (69185 downstream) NA NA NA TCGGGAGAATATGAGCGGTCC 0.622 NA N||| 114 0.0227636 0.0628 0.0072 5008 , , NA 327454 0.003 NA 0.0119 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49515856A>G NA hg19 0.02 4.03839 AATxTGA COVERED NOVEL 0 9 5.78723 KEEP 29 2 74 45 1353 AA 1 0.999989 0 13 44 441 0 0 33.293478 91 46 2447 245 0.125 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49608471 49608471 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49608471T>C NA NA AC119751.4 (6945 upstream) : None (None downstream) NA NA NA cctgcctcagtctcccgagta 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49608471T>C NA hg19 0.02 -0.42877 CAGxCTC COVERED NOVEL 0 12 3.310249 KEEP 21 0 0 11 356 TT 0.99257 0.9474 0 6 40 190 0 0 14.138829 40 48 1153 102 0.130435 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49629329 49629329 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49629329G>T NA NA AC119751.4 (27803 upstream) : None (None downstream) NA NA NA GCATTCGAAAGCATGAAAAAA 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49629329G>T NA hg19 0.02 -0.184192 AAAxCAT COVERED NOVEL 0 10 3.912745 KEEP 18 0 0 13 460 GG 0.992708 0.42039 0 3 46 89 0 0 6.59288 18 48 604 66 0.142857 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49652598 49652598 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:49652598T>A NA NA AC119751.4 (51072 upstream) : None (None downstream) NA NA NA acgagtggaatggaatggaat 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49652598T>A NA hg19 0.02 -0.192951 GAAxGGA COVERED NOVEL 0 21 3.846259 KEEP 20 1 32 24 760 TT 0.99649 0.45615 0 3 39 98 2 1 9.770247 2 41 56 87 0.6 0.457757 DCUN1D4 23142 __UNKNOWN__ __UNKNOWN__ 4 52753301 52753301 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:52753301A>T ENST00000334635.5 + 6 594 DCUN1D4_ENST00000451288.2_Intron|DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Intron NM_001040402.1 NP_001035492.1 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain containing 4 NA NA nucleus (GO:0005634) endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) ggagtctcgcactgtcgccag 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87466 CCDS3487.2, CCDS33982.1, CCDS75123.1 4q11 2013-06-10 2013-06-10 ENSG00000109184 ENSG00000109184 23142 28998 protein-coding gene gene with protein product 612977 DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) NA 15988528 Standard NM_015115 XM_005265731 NA Approved KIAA0276 uc003gze.3 Q92564 OTTHUMG00000128700 ENST00000334635.5:c.414+497A>T chr4.hg19:g.52753301A>T NA B4DH25|Q7Z3F3|Q7Z6B8 hg19 CCDS33982.1 0.02 3.065583 CGCxCTG COVERED NOVEL DCUN1D4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000250599.2 16 3.635663 KEEP 1 3 96 46 1262 AA 1 0.999998 0 + 8 60 248 1 0 16.599318 90 60 2466 275 ENST00000334635.5 0.081633 0.999998 SRD5A3 79644 __UNKNOWN__ __UNKNOWN__ 4 56237842 56237842 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:56237842T>C ENST00000264228.4 + 0 2769 SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 NA NA androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628) cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) Spironolactone(DB00421) ttttttgagatggagtctcac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023414 CCDS3498.1 4q12 2009-07-21 ENSG00000128039 ENSG00000128039 79644 25812 protein-coding gene gene with protein product 611715 NA 17986282 Standard NM_024592 NM_024592 NA Approved FLJ13352, SRD5A2L, SRD5A2L1 uc003hau.3 Q9H8P0 OTTHUMG00000128733 ENST00000264228.4:c.*1584T>C chr4.hg19:g.56237842T>C NA Q4W5Q6 hg19 CCDS3498.1 0.02 3.403217 AGAxGGA COVERED NOVEL SRD5A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250644.2 35 14.34262 KEEP 1 3 101 83 2564 TT 1 1 0 + 7 60 231 1 0 15.109216 104 70 3072 310 ENST00000264228.4 0.063063 1 CEP135 9662 __UNKNOWN__ __UNKNOWN__ 4 56826839 56826839 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:56826839G>C ENST00000257287.4 + 6 823 CEP135_ENST00000422247.2_3'UTR NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa NA NA centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829) protein C-terminus binding (GO:0008022) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) gcctgtaatcgcagcactttg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014535 CCDS33986.1 4q12 2014-02-20 2005-12-02 2005-12-02 ENSG00000174799 ENSG00000174799 9662 29086 protein-coding gene gene with protein product 611423 KIAA0635, centrosomal protein 4 KIAA0635, CEP4 NA 9734811, 14654843 Standard NM_025009 NM_025009 NA Approved FLJ13621 uc003hbi.4 Q66GS9 OTTHUMG00000160748 ENST00000257287.4:c.699+907G>C chr4.hg19:g.56826839G>C NA B2RMY0|O75130|Q58F25|Q9H8H7 hg19 CCDS33986.1 0.02 -0.254381 ATCxCAG COVERED NOVEL CEP135-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362092.2 5 3.310774 KEEP 0 0 0 11 383 GG 0.993072 0.688863 0 + 3 60 99 0 0 7.242449 24 60 786 46 ENST00000257287.4 0.111111 0.693668 THEGL 100506564 __UNKNOWN__ __UNKNOWN__ 4 57425767 57425767 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:57425767A>T ENST00000512175.2 + 4 790 THEGL_ENST00000510716.1_Intron NM_001256475.1 NP_001243404.1 P0DJG4 THEGL_HUMAN theg spermatid protein-like NA NA NA agagtctcacactgtcaccta 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant DB450279 CCDS58899.1 4q12 2013-04-04 2012-02-24 2012-02-24 ENSG00000249693 ENSG00000249693 100506564 43771 protein-coding gene gene with protein product NA Standard NM_001256475 NM_001256475 NA Approved uc031seh.1 P0DJG4 OTTHUMG00000160770 ENST00000512175.2:c.722+81A>T chr4.hg19:g.57425767A>T NA hg19 CCDS58899.1 0.02 -0.245431 CACxCTG COVERED NOVEL THEGL-001 KNOWN not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362201.2 4 3.3089 KEEP 1 0 0 11 321 AA 0.993072 0.636904 0 + 4 60 121 0 0 9.315278 20 60 544 47 ENST00000512175.2 0.166667 0.641347 HOPX 84525 __UNKNOWN__ __UNKNOWN__ 4 57514361 57514361 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:57514361A>T ENST00000337881.7 - 0 1403 HOPX_ENST00000556614.2_3'UTR|HOPX_ENST00000381255.3_3'UTR|HOPX_ENST00000553379.2_3'UTR|HOPX_ENST00000317745.7_3'UTR|HOPX_ENST00000555760.2_3'UTR|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000508121.1_3'UTR|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000420433.1_3'UTR|HOPX_ENST00000556376.2_3'UTR|HOPX_ENST00000503639.3_3'UTR NM_139212.3 NP_631958.1 Q9BPY8 HOP_HUMAN HOP homeobox NA NA heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829) nucleus (GO:0005634) DNA binding (GO:0003677) large_intestine(2)|lung(5)|skin(1) 8 Glioma(25;0.08)|all_neural(26;0.101) TTTCCAAGTTAATGCAGCTAT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3507.1, CCDS47062.1, CCDS54767.1 4q12 2011-06-20 ENSG00000171476 ENSG00000171476 84525 Homeoboxes / PRD class 24961 protein-coding gene gene with protein product homeobox only domain 607275 NA 12297045 Standard NM_032495 NA Approved LAGY, HOP, OB1, NECC1, SMAP31 uc003hbz.2 Q9BPY8 OTTHUMG00000128768 ENST00000337881.7:c.*525T>A chr4.hg19:g.57514361A>T NA A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1 hg19 CCDS3507.1 0.02 1.418783 GTTxATG COVERED NOVEL HOPX-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250689.4 2 5.114768 KEEP 0 0 0 17 514 AA 0.999366 0.973348 0 - 22 60 601 0 0 54.968258 31 60 858 103 ENST00000337881.7 0.415094 0.973965 LPHN3 23284 __UNKNOWN__ __UNKNOWN__ 4 62879382 62879382 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:62879382C>T ENST00000514591.1 + 21 3520 LPHN3_ENST00000506720.1_Intron|LPHN3_ENST00000509896.1_Intron|LPHN3_ENST00000508946.1_Intron|LPHN3_ENST00000514157.1_Intron|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000504896.1_Intron|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000507164.1_Intron|LPHN3_ENST00000508693.1_Intron|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000545650.1_Intron|LPHN3_ENST00000512091.2_Intron Q9HAR2 LPHN3_HUMAN latrophilin 3 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ctgaggtgggcggatcacgag 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018311 CCDS54768.1 4q13.1 2014-08-08 ENSG00000150471 23284 -, GPCR / Class B : Orphans 20974 protein-coding gene gene with protein product NA 10994649 Standard NM_015236 NA Approved KIAA0768, LEC3 uc010ihh.3 Q9HAR2 ENST00000514591.1:c.3192-15191C>T chr4.hg19:g.62879382C>T NA E9PE04|O94867|Q9NWK5 hg19 CCDS54768.1 0.02 -0.236825 GGGxGGA COVERED NOVEL LPHN3-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000361765.1 8 2.40772 KEEP 0 0 0 8 282 CC 0.99257 0.607857 0 + 3 60 94 0 0 6.965374 20 60 641 49 ENST00000514591.1 0.130435 0.612407 EPHA5 2044 __UNKNOWN__ __UNKNOWN__ 4 66230722 66230722 __UNKNOWN__ Intron SNP C C G rs571073700 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:66230722C>G ENST00000273854.3 - 12 2837 EPHA5_ENST00000511294.1_Intron|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Intron NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 NA NA axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314) dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTATAATTTGCCATCATACTT 0.333 NA TSP Lung(17;0.13) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 168 156 160 NA NA NA 4 NA NA 66230722 2203 4299 6502 SO:0001627 intron_variant L36644 CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1 4q13.1 2013-02-11 2004-10-28 ENSG00000145242 ENSG00000145242 2044 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3389 protein-coding gene gene with protein product 600004 EphA5 NA 9267020, 7528718 Standard NM_004439 NM_004439 NA Approved Hek7, TYRO4, CEK7, EHK1 uc003hcy.3 P54756 OTTHUMG00000129273 ENST00000273854.3:c.2236+12G>C chr4.hg19:g.66230722C>G NA Q7Z3F2 hg19 CCDS3513.1 0.02 1.988218 TTGxCAT COVERED NOVEL EPHA5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251388.2 3 19.260693 KEEP 0 0 0 64 2234 CC 1 0.981955 0 - 18 60 619 0 0 55.386823 37 60 1240 158 ENST00000273854.3 0.327273 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 68265924 68265924 __UNKNOWN__ IGR SNP G G A rs6843343|rs36178933 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:68265924G>A NA NA RNU6-699P (502835 upstream) : RP11-584P21.2 (17098 downstream) NA NA NA acaaaaagaggttttcacatc 0.343 NA -||| 4697 0.937899 0.8638 0.9611 5008 , , NA 136978 0.9831 NA 0.9404 False NA ,,, NA NA NA 2504 0.9724 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.68265924G>A NA hg19 0.02 2.712016 GAGxTTT COVERED NOVEL 0 24 11.069868 KEEP 26 1 29 47 1615 GG 1 0.999994 0 3 60 91 0 0 10.53015 0 0 0 255 1 0.999994 STAP1 26228 __UNKNOWN__ __UNKNOWN__ 4 68447223 68447223 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:68447223G>A ENST00000265404.2 + 5 612 STAP1_ENST00000396225.1_Intron NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 NA NA intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234) NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 TTATTCATTCGATTGTTAAAA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 121 115 117 NA NA NA 4 NA NA 68447223 2203 4300 6503 SO:0001627 intron_variant AB023483 CCDS3515.1 4q13.2 2013-02-14 2007-08-09 ENSG00000035720 ENSG00000035720 26228 SH2 domain containing 24133 protein-coding gene gene with protein product BCR downstream signaling 1 604298 NA 10518561, 10679268 Standard NM_012108 NM_012108 NA Approved STAP-1, BRDG1 uc003hde.4 Q9ULZ2 OTTHUMG00000129304 ENST00000265404.2:c.530+34G>A chr4.hg19:g.68447223G>A NA B2R980 hg19 CCDS3515.1 0.02 1.063706 TTCxATT COVERED NOVEL STAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251434.1 2 10.832563 KEEP 0 0 0 36 1179 GG 0.999999 0.997897 0 + 5 60 135 0 0 8.0497 66 60 2084 150 ENST00000265404.2 0.070423 0.997898 UGT2A1 10941 __UNKNOWN__ __UNKNOWN__ 4 70501376 70501376 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:70501376C>T ENST00000503640.1 - 1 771 UGT2A2_ENST00000457664.2_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus NA NA cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 ggtgaaacctcgtctctatta 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ006054 CCDS3529.1, CCDS58901.1, CCDS58902.1 4q13 2013-03-28 2010-12-02 10941 UDP glucuronosyltransferases 12542 protein-coding gene gene with protein product 604716 UDP glycosyltransferase 2 family, polypeptide A1, UDP glucuronosyltransferase 2 family, polypeptide A1 NA 10359671 Standard NM_006798 NM_001252274 NA Approved uc011caq.2 Q9Y4X1 OTTHUMG00000184942 ENST00000503640.1:c.715+11271G>A chr4.hg19:g.70501376C>T NA B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3 hg19 CCDS3529.1 0.02 -0.420994 CCTxGTC COVERED NOVEL UGT2A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251554.3 8 3.91275 KEEP 0 0 0 13 453 CC 0.995343 0.943985 0 - 5 60 128 0 0 8.33434 41 60 1326 82 ENST00000503640.1 0.108696 0.948402 HTN1 3346 __UNKNOWN__ __UNKNOWN__ 4 70921556 70921556 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:70921556A>T ENST00000511674.1 + 0 515 HTN1_ENST00000246896.3_Intron P15515 HIS1_HUMAN histatin 1 NA NA biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640) extracellular region (GO:0005576) endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 ctgttttggtaactgtagctt 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3534.1 4q13 2008-02-05 ENSG00000126550 ENSG00000126550 3346 5283 protein-coding gene gene with protein product 142701 NA Standard NM_002159 NA Approved HIS1 uc003hex.3 P15515 OTTHUMG00000129397 ENST00000511674.1:c.*270A>T chr4.hg19:g.70921556A>T NA hg19 CCDS3534.1 0.02 2.316449 GGTxACT COVERED NOVEL HTN1-005 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362220.2 13 2.897637 KEEP 0 6 159 66 1944 AA 1 1 0 + 11 60 284 0 0 17.106237 125 60 3372 273 ENST00000511674.1 0.080882 1 HTN1 3346 __UNKNOWN__ __UNKNOWN__ 4 70921679 70921679 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:70921679A>T ENST00000246896.3 + 5 314 NM_002159.2 NP_002150.1 P15515 HIS1_HUMAN histatin 1 NA NA biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640) extracellular region (GO:0005576) endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 taaagtagttatttctaattc 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3534.1 4q13 2008-02-05 ENSG00000126550 ENSG00000126550 3346 5283 protein-coding gene gene with protein product 142701 NA Standard NM_002159 NA Approved HIS1 uc003hex.3 P15515 OTTHUMG00000129397 ENST00000246896.3:c.171+360A>T chr4.hg19:g.70921679A>T NA hg19 CCDS3534.1 0.02 1.254531 GTTxTTT COVERED NOVEL HTN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251553.1 12 8.186196 KEEP 0 2 53 46 1350 AA 1 0.999559 0 + 5 60 143 1 2 8.577264 75 60 2125 170 ENST00000246896.3 0.0625 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 71168080 71168080 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:71168080C>G NA NA CSN3 (50935 upstream) : CABS1 (32602 downstream) NA NA NA gtaatcccagcactttgggag 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.71168080C>G NA hg19 0.02 -0.166682 CAGxACT COVERED NOVEL 0 10 3.00998 KEEP 2 0 0 10 367 CC 0.992708 0.351366 0 4 60 133 0 0 11.723622 9 60 316 43 0.307692 0.353947 IGJ 3512 __UNKNOWN__ __UNKNOWN__ 4 71521638 71521638 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:71521638T>G ENST00000254801.4 - 0 1057 ENAM_ENST00000472903.1_Intron NM_144646.3 NP_653247.1 P01591 IGJ_HUMAN immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides NA NA adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751) antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803) endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) ATGCGGAAGCTCTGGCTCTCC 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M12759 CCDS3545.1 4q21 2012-10-02 ENSG00000132465 ENSG00000132465 3512 Immunoglobulins / IGJ linker 5713 protein-coding gene gene with protein product immunoglobulin J chain, IgJ chain 147790 NA 3016707, 2984306 Standard NM_144646 NM_144646 NA Approved IGCJ, JCH uc003hfn.4 P01591 OTTHUMG00000129909 ENST00000254801.4:c.*408A>C chr4.hg19:g.71521638T>G NA hg19 CCDS3545.1 0.02 1.816379 AGCxCTG COVERED NOVEL IGJ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252160.1 0 5.415194 KEEP 0 0 0 18 550 TT 0.999859 0.973828 0 - 25 70 763 0 0 72.513734 27 60 805 105 ENST00000254801.4 0.480769 0.973965 RUFY3 22902 __UNKNOWN__ __UNKNOWN__ 4 71588258 71588258 __UNKNOWN__ 5'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:71588258C>G ENST00000381006.3 + 0 547 RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000226328.4_5'UTR NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 NA NA negative regulation of axonogenesis (GO:0050771) filopodium (GO:0030175)|growth cone (GO:0030426) endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) gtgtgtgtgtctgtgtgtgtg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 97 84 88 NA NA NA 4 NA NA 71588258 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF112221 CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1 4q13.3 2009-05-29 ENSG00000018189 ENSG00000018189 22902 Zinc fingers, FYVE domain containing 30285 protein-coding gene gene with protein product single axon-related 1 611194 NA 17439943 Standard NM_014961 NM_001130709 NA Approved RIPx, KIAA0871, Singar1 uc003hfr.3 Q7L099 OTTHUMG00000129910 ENST00000381006.3:c.-33C>G chr4.hg19:g.71588258C>G NA B3KM25|B4DYW7|D9N163|O94948|Q9UI00 hg19 CCDS34001.1 0.02 3.405794 TGTxTGT COVERED NOVEL RUFY3-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252162.1 21 75.014581 KEEP 0 5 183 313 10585 CC 1 1 0 + 9 60 296 1 0 19.368965 132 60 4315 566 ENST00000381006.3 0.06383 1 RUFY3 22902 __UNKNOWN__ __UNKNOWN__ 4 71672653 71672653 __UNKNOWN__ 3'UTR SNP A A G rs1043903 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:71672653A>G ENST00000381006.3 + 0 2719 RUFY3_ENST00000502653.1_3'UTR NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 NA NA negative regulation of axonogenesis (GO:0050771) filopodium (GO:0030175)|growth cone (GO:0030426) endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) ATCTTTGGAAAGGCAACTCAT 0.328 NA G||| 2568 0.51278 0.7784 0.4092 5008 , , NA 18615 0.4028 NA 0.3837 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF112221 CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1 4q13.3 2009-05-29 ENSG00000018189 ENSG00000018189 22902 Zinc fingers, FYVE domain containing 30285 protein-coding gene gene with protein product single axon-related 1 611194 NA 17439943 Standard NM_014961 NM_001130709 NA Approved RIPx, KIAA0871, Singar1 uc003hfr.3 Q7L099 OTTHUMG00000129910 ENST00000381006.3:c.*277A>G chr4.hg19:g.71672653A>G NA B3KM25|B4DYW7|D9N163|O94948|Q9UI00 hg19 CCDS34001.1 0.02 -0.350834 GAAxGGC COVERED NOVEL RUFY3-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252162.1 2 8.727363 KEEP 0 0 0 29 956 AA 0.999997 0.877705 0 + 3 60 106 0 0 7.474965 35 60 1050 100 ENST00000381006.3 0.078947 0.877708 GRSF1 2926 __UNKNOWN__ __UNKNOWN__ 4 71689952 71689952 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:71689952A>G ENST00000502323.1 - 9 1244 GRSF1_ENST00000254799.6_Intron|GRSF1_ENST00000439371.1_Intron|GRSF1_ENST00000545193.1_Intron|GRSF1_ENST00000508091.1_Intron Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 NA NA anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033) cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) ctcccaaagtactgggattac 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC040485 CCDS47069.1, CCDS47070.1 4q13 2013-07-16 ENSG00000132463 2926 RNA binding motif (RRM) containing 4610 protein-coding gene gene with protein product 604851 NA 8036161 Standard NM_002092 NM_001098477 NA Approved uc010iia.1 Q12849 ENST00000502323.1:c.954+58T>C chr4.hg19:g.71689952A>G NA B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2 hg19 CCDS47070.1 0.02 5.701415 AGTxCTG COVERED NOVEL GRSF1-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362647.2 29 11.357524 KEEP 0 4 153 91 2706 AA 1 1 0 - 7 60 239 1 0 14.904161 146 60 4110 362 ENST00000502323.1 0.045752 1 GRSF1 2926 __UNKNOWN__ __UNKNOWN__ 4 71703037 71703037 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:71703037C>T ENST00000502323.1 - 2 133 GRSF1_ENST00000254799.6_Intron|GRSF1_ENST00000439371.1_Intron|GRSF1_ENST00000545193.1_Intron|GRSF1_ENST00000508091.1_Intron Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 NA NA anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033) cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) atcccagcaccttgggaggcc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC040485 CCDS47069.1, CCDS47070.1 4q13 2013-07-16 ENSG00000132463 2926 RNA binding motif (RRM) containing 4610 protein-coding gene gene with protein product 604851 NA 8036161 Standard NM_002092 NM_001098477 NA Approved uc010iia.1 Q12849 ENST00000502323.1:c.129-1006G>A chr4.hg19:g.71703037C>T NA B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2 hg19 CCDS47070.1 0.02 -0.24562 CACxTTG COVERED NOVEL GRSF1-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362647.2 6 3.00988 KEEP 1 0 0 10 359 CC 0.992708 0.63667 0 - 4 60 117 0 0 8.692207 23 60 787 53 ENST00000502323.1 0.148148 0.641347 MOB1B 92597 __UNKNOWN__ __UNKNOWN__ 4 71786072 71786072 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:71786072A>G ENST00000309395.2 + 1 215 MOB1B_ENST00000396051.2_Intron|MOB1B_ENST00000511449.1_Intron NM_001244766.1|NM_173468.3 NP_001231695.1|NP_775739.1 Q7L9L4 MOB1B_HUMAN MOB kinase activator 1B NA NA hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872) NA ctcccaagtaactgggattac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC038112 CCDS34002.1, CCDS58903.1 4q13.3 2011-09-28 2011-09-28 2011-09-27 ENSG00000173542 ENSG00000173542 92597 MOB kinase activators 29801 protein-coding gene gene with protein product Mob4A protein 609282 MOB1, Mps One Binder kinase activator-like 1A (yeast), MOB1 Mps One Binder homolog B (yeast) MOBKL1A NA 15067004 Standard NM_173468 NM_173468 NA Approved MOB4A uc003hfw.3 Q7L9L4 OTTHUMG00000160844 ENST00000309395.2:c.14+17805A>G chr4.hg19:g.71786072A>G NA B2R8U6|B4DRY3|Q8IY23 hg19 CCDS34002.1 0.02 -0.122774 GTAxCTG COVERED NOVEL MOB1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362634.1 5 2.406619 KEEP 0 0 0 8 236 AA 0.99257 0.194853 0 + 3 60 97 0 0 8.201467 9 60 252 25 ENST00000309395.2 0.25 0.196312 MTHFD2L 441024 __UNKNOWN__ __UNKNOWN__ 4 75107364 75107364 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:75107364A>G ENST00000325278.6 + 6 771 MTHFD2L_ENST00000433372.1_3'UTR|MTHFD2L_ENST00000395759.2_Intron Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like NA NA folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) caaagtgctgagattacaggc 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC065771 CCDS47075.1 4q13.3 2011-08-03 ENSG00000163738 ENSG00000163738 441024 31865 protein-coding gene gene with protein product 614047 NA 21163947 Standard NM_001004346 NM_001144978 NA Approved MGC72244 uc011cbk.2 Q9H903 OTTHUMG00000157135 ENST00000325278.6:c.631+16253A>G chr4.hg19:g.75107364A>G NA Q6P079|Q8N560 hg19 0.02 -0.438444 CTGxGAT COVERED NOVEL MTHFD2L-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000347552.2 7 7.221114 KEEP 0 0 0 24 732 AA 0.999909 0.959772 0 + 4 60 115 0 0 7.554914 41 60 1155 82 ENST00000325278.6 0.088889 0.959859 NAAA 27163 __UNKNOWN__ __UNKNOWN__ 4 76840882 76840882 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:76840882A>C ENST00000286733.4 - 8 1071 NAAA_ENST00000399497.3_Intron|NAAA_ENST00000507956.1_Intron|NAAA_ENST00000505594.1_3'UTR|NAAA_ENST00000511606.1_Intron NM_014435.3 NP_055250.2 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase NA NA lipid metabolic process (GO:0006629) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134) endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 ctgcctgcctaggcctcccaa 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M92449 CCDS43239.1 4q21.1 2011-09-23 2008-04-24 2008-04-24 ENSG00000138744 ENSG00000138744 27163 3.5.1.- 736 protein-coding gene gene with protein product 607469 N-acylsphingosine amidohydrolase (acid ceramidase)-like ASAHL NA 10610717, 1446826 Standard NM_001042402 NA Approved uc003hjb.3 Q02083 OTTHUMG00000160855 ENST00000286733.4:c.969+179T>G chr4.hg19:g.76840882A>C NA Q5KTF2|Q96EY2|Q9BRA8 hg19 CCDS43239.1 0.02 1.678541 CCTxGGC COVERED NOVEL NAAA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000362843.4 11 5.411876 KEEP 0 0 0 18 549 AA 0.99986 0.999347 0 - 5 60 168 0 0 11.097023 74 60 2143 133 ENST00000286733.4 0.063291 0.999487 RP11-630D6.5 0 __UNKNOWN__ __UNKNOWN__ 4 76922314 76922314 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:76922314T>C ENST00000501239.2 + 0 815 NA NA NA tggtctcaaatccctgacctc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000501239.2: chr4.hg19:g.76922314T>C NA hg19 0.02 -0.201236 AAAxCCC COVERED NOVEL RP11-630D6.5-001 KNOWN basic antisense NA antisense OTTHUMT00000362802.1 7 4.813828 KEEP 0 0 0 16 477 TT 0.997832 0.489481 0 + 3 60 88 0 0 6.497736 18 60 471 44 ENST00000501239.2 0.142857 0.490544 RP11-630D6.5 0 __UNKNOWN__ __UNKNOWN__ 4 76922366 76922366 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:76922366T>C ENST00000501239.2 + 0 815 NA NA NA gctgggattataggcgtgagc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000501239.2: chr4.hg19:g.76922366T>C NA hg19 0.02 1.9414 TTAxAGG COVERED NOVEL RP11-630D6.5-001 KNOWN basic antisense NA antisense OTTHUMT00000362802.1 9 6.618947 KEEP 0 0 0 22 656 TT 0.999879 0.963657 0 + 6 60 214 1 0 16.591318 39 60 1064 93 ENST00000501239.2 0.133333 0.963774 ART3 419 __UNKNOWN__ __UNKNOWN__ 4 76997186 76997186 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:76997186T>G ENST00000355810.4 + 2 188 ART3_ENST00000341029.5_Intron|ART3_ENST00000349321.3_Intron|ART3_ENST00000513494.1_Intron NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 NA NA protein ADP-ribosylation (GO:0006471) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) acggagtctctctctgtcgcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X95827 CCDS3575.1, CCDS47079.1, CCDS47080.1 4q21.1 2008-05-15 ENSG00000156219 ENSG00000156219 419 725 protein-coding gene gene with protein product 603086 NA 9119374 Standard NM_001179 NM_001130017 NA Approved uc003hjo.3 Q13508 OTTHUMG00000130110 ENST00000355810.4:c.69+75T>G chr4.hg19:g.76997186T>G NA Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1 hg19 CCDS47079.1 0.02 1.804139 CTCxCTC COVERED NOVEL ART3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252416.2 2 12.620986 KEEP 2 0 0 42 1285 TT 1 0.999559 0 + 4 60 136 0 0 8.931982 63 70 1886 150 ENST00000355810.4 0.059701 0.999559 ART3 419 __UNKNOWN__ __UNKNOWN__ 4 77021521 77021521 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:77021521T>C ENST00000355810.4 + 6 996 ART3_ENST00000341029.5_Intron|ART3_ENST00000349321.3_Intron NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 NA NA protein ADP-ribosylation (GO:0006471) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) cgtggtggcttatgcctgtaa 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 45 49 48 NA NA NA 4 NA NA 77021521 2203 4300 6503 SO:0001627 intron_variant X95827 CCDS3575.1, CCDS47079.1, CCDS47080.1 4q21.1 2008-05-15 ENSG00000156219 ENSG00000156219 419 725 protein-coding gene gene with protein product 603086 NA 9119374 Standard NM_001179 NM_001130017 NA Approved uc003hjo.3 Q13508 OTTHUMG00000130110 ENST00000355810.4:c.877+48T>C chr4.hg19:g.77021521T>C NA Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1 hg19 CCDS47079.1 0.02 3.722499 GCTxATG COVERED NOVEL ART3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252416.2 14 10.895369 KEEP 1 2 74 62 1860 TT 1 1 0 + 6 60 206 0 1 13.079737 116 60 3241 296 ENST00000355810.4 0.04918 1 FAM47E-STBD1 100631383 __UNKNOWN__ __UNKNOWN__ 4 77227953 77227953 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:77227953G>C ENST00000237642.6 + 1 775 c.31G>C c.(31-33)Gga>Cga p.G11R FAM47E_ENST00000515604.1_Intron|FAM47E-STBD1_ENST00000539752.1_Intron NM_003943.4 NP_003934.1 FAM47E-STBD1 readthrough NA NA NA CCTGCTGGTTGGAGGGGGTCT 0.697 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 19 28 25 NA NA NA 4 NA NA 77227953 2199 4292 6491 SO:0001583 missense CCDS58908.1 4q21.1 2013-04-23 ENSG00000118804 ENSG00000118804 100631383 44667 other readthrough NA Standard NM_001242939 NA Approved OTTHUMG00000160966 ENST00000237642.6:c.31G>C chr4.hg19:g.77227953G>C ENSP00000237642:p.Gly11Arg NA hg19 CCDS3578.1 0.02 7.52806 GTTxGAG COVERED . . . . . . . . . . G 19.27 3.794502 0.70452 . . ENSG00000118804 ENST00000237642 T 0.55760 0.5 4.74 4.74 0.60224 . 0.000000 0.43579 D 0.000546 T 0.60431 0.2268 L 0.29908 0.895 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.63915 -0.6529 10 0.87932 D 0 -15.7968 13.089 0.59156 0.0:0.0:1.0:0.0 . 11 O95210 STBD1_HUMAN R 11 ENSP00000237642:G11R ENSP00000237642:G11R G + 1 0 STBD1 77446977 1.000000 0.71417 1.000000 0.80357 0.882000 0.50991 2.936000 0.48971 2.453000 0.82957 0.313000 0.20887 GGA NOVEL FAM47E-STBD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252415.2 2 36.113223 KEEP 0 0 0 120 4192 GG 1 1 0 + 104 60 3415 0 0 322.597032 125 60 4275 521 ENST00000237642.6 0.454148 1 SEPT11 55752 __UNKNOWN__ __UNKNOWN__ 4 77896027 77896027 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:77896027A>G ENST00000505788.1 + 2 122 SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000502584.1_Intron|SEPT11_ENST00000510515.1_Intron|SEPT11_ENST00000264893.6_Intron Q9NVA2 SEP11_HUMAN septin 11 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291) cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202) GTP binding (GO:0005525) endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 tgtaatcccaacactttggga 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001711 CCDS34018.1 4q21.1 2013-01-21 ENSG00000138758 ENSG00000138758 55752 Septins 25589 protein-coding gene gene with protein product 612887 NA 14999297, 15140406 Standard NM_018243 NM_018243 NA Approved FLJ10849 uc003hkj.3 Q9NVA2 OTTHUMG00000160854 ENST00000505788.1:c.28-21551A>G chr4.hg19:g.77896027A>G NA B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9 hg19 0.02 1.839385 CCAxCAC COVERED NOVEL SEPT11-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000362677.1 9 3.276073 KEEP 1 2 75 37 1095 AA 1 0.998465 0 + 4 60 136 0 0 8.959599 62 60 1711 148 ENST00000505788.1 0.060606 0.998465 CCNI 10983 __UNKNOWN__ __UNKNOWN__ 4 77977179 77977179 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:77977179C>G ENST00000237654.4 - 5 971 c.395G>C c.(394-396)aGa>aCa p.R132T CCNI_ENST00000537948.1_Missense_Mutation_p.R118T NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 132 NA regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 CAGAATAATTCTCTCCATTCT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 102 105 104 NA NA NA 4 NA NA 77977179 2203 4300 6503 SO:0001583 missense D50310 CCDS3580.1 4q21.1 2014-07-03 ENSG00000118816 ENSG00000118816 10983 1595 protein-coding gene gene with protein product NA 7493655 Standard NM_006835 NM_006835 NA Approved CCNI1 uc003hkm.3 Q14094 OTTHUMG00000130106 ENST00000237654.4:c.395G>C chr4.hg19:g.77977179C>G ENSP00000237654:p.Arg132Thr NA B2R6M0|B7Z6X4 hg19 CCDS3580.1 0.02 3.76606 ATTxTCT COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 24.8|24.8 4.573050|4.573050 0.86542|0.86542 .|. .|. ENSG00000118816|ENSG00000118816 ENST00000515468|ENST00000237654;ENST00000537948 .|T;T .|0.12774 .|2.65;2.65 6.16|6.16 6.16|6.16 0.99307|0.99307 .|Cyclin, N-terminal (1);Cyclin-like (3); .|0.078511 .|0.85682 .|D .|0.000000 T|T 0.42314|0.42314 0.1197|0.1197 M|M 0.88105|0.88105 2.93|2.93 0.58432|0.58432 D|D 0.999998|0.999998 .|D;D .|0.63046 .|0.992;0.986 .|D;D .|0.72625 .|0.978;0.956 T|T 0.40136|0.40136 -0.9579|-0.9579 6|10 0.87932|0.72032 D|D 0|0.01 -15.7971|-15.7971 11.6865|11.6865 0.51490|0.51490 0.0:0.8957:0.0:0.1043|0.0:0.8957:0.0:0.1043 .|. .|118;132 .|B7Z6X4;Q14094 .|.;CCNI_HUMAN D|T 8|132;118 .|ENSP00000237654:R132T;ENSP00000441001:R118T ENSP00000425935:E8D|ENSP00000237654:R132T E|R -|- 3|2 2|0 CCNI|CCNI 78196203|78196203 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 5.651000|5.651000 0.67951|0.67951 2.937000|2.937000 0.99478|0.99478 0.650000|0.650000 0.86243|0.86243 GAG|AGA NOVEL CCNI-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252412.2 1 24.677194 KEEP 0 0 0 82 2889 CC 1 1 0 - 45 60 1515 0 0 136.004884 88 60 2903 315 ENST00000237654.4 0.338346 1 CNOT6L 246175 __UNKNOWN__ __UNKNOWN__ 4 78679117 78679117 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:78679117A>G ENST00000504123.1 - 5 531 CNOT6L_ENST00000264903.4_Intron|CNOT6L_ENST00000506166.1_Intron Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like NA NA gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351) CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535) kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 gcctcccaaaatgctgggatt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL133112 CCDS68731.1 4q13.3 2014-06-17 ENSG00000138767 246175 18042 protein-coding gene gene with protein product NA Standard NM_144571 NA Approved DKFZp434K098, Ccr4b uc003hks.3 Q96LI5 ENST00000504123.1:c.401-1012T>C chr4.hg19:g.78679117A>G NA Q9UF92 hg19 0.02 -0.122774 AAAxTGC UNCOVERED NOVEL CNOT6L-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000362515.1 7 2.407413 KEEP 1 0 0 8 258 AA 0 0 0 - 3 60 99 0 0 8.282276 10 60 282 28 ENST00000504123.1 0.230769 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 78740638 78740638 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:78740638C>T NA NA CNOT6L (94 upstream) : MRPL1 (43035 downstream) NA NA NA CCCGCCCGCCCCGAGGGGAAG 0.791 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.78740638C>T NA hg19 0.02 3.201073 GCCxCGA COVERED NOVEL 0 2 26.178223 KEEP 0 0 0 87 2884 CC 1 0.999999 0 58 60 1668 0 0 157.788357 64 60 2130 255 0.47541 0.999999 FRAS1 80144 __UNKNOWN__ __UNKNOWN__ 4 78979275 78979275 __UNKNOWN__ Intron SNP C C T rs529437383 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:78979275C>T ENST00000325942.6 + 1 516 FRAS1_ENST00000264895.6_Intron|FRAS1_ENST00000264899.6_Intron NM_001166133.1 NP_001159605.1 Q86XX4 FRAS1_HUMAN Fraser extracellular matrix complex subunit 1 NA NA cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618) metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 tgtgtgtgtgcgtgtgcgtgt 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 74 83 80 NA NA NA 4 NA NA 78979275 2074 4224 6298 SO:0001627 intron_variant AB040933 CCDS54772.1 4q21.21 2014-06-25 2014-06-25 ENSG00000138759 ENSG00000138759 80144 19185 protein-coding gene gene with protein product 607830 Fraser syndrome 1 NA 12766769, 3118036 Standard NM_025074 NA Approved FLJ22031, FLJ14927, KIAA1500 uc003hlb.2 Q86XX4 OTTHUMG00000160856 ENST00000325942.6:c.76+36C>T chr4.hg19:g.78979275C>T NA A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228 hg19 CCDS54772.1 0.02 4.330175 GTGxGTG COVERED NOVEL FRAS1-001 NOVEL basic|CCDS protein_coding NA protein_coding OTTHUMT00000362706.2 16 12.520014 KEEP 0 6 186 107 3290 CC 1 1 0 + 13 60 371 0 1 23.047532 170 60 5168 394 ENST00000325942.6 0.071038 1 FRAS1 80144 __UNKNOWN__ __UNKNOWN__ 4 78979281 78979281 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:78979281C>T ENST00000325942.6 + 1 516 FRAS1_ENST00000264895.6_Intron|FRAS1_ENST00000264899.6_Intron NM_001166133.1 NP_001159605.1 Q86XX4 FRAS1_HUMAN Fraser extracellular matrix complex subunit 1 NA NA cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618) metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 tgtgcgtgtgcgtgtgtgtgt 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 71 80 77 NA NA NA 4 NA NA 78979281 2069 4223 6292 SO:0001627 intron_variant AB040933 CCDS54772.1 4q21.21 2014-06-25 2014-06-25 ENSG00000138759 ENSG00000138759 80144 19185 protein-coding gene gene with protein product 607830 Fraser syndrome 1 NA 12766769, 3118036 Standard NM_025074 NA Approved FLJ22031, FLJ14927, KIAA1500 uc003hlb.2 Q86XX4 OTTHUMG00000160856 ENST00000325942.6:c.76+42C>T chr4.hg19:g.78979281C>T NA A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228 hg19 CCDS54772.1 0.02 4.389468 GTGxGTG COVERED NOVEL FRAS1-001 NOVEL basic|CCDS protein_coding NA protein_coding OTTHUMT00000362706.2 12 14.79483 KEEP 0 5 153 103 3111 CC 1 1 0 + 10 60 296 1 0 17.727157 166 60 5004 348 ENST00000325942.6 0.056818 1 FRAS1 80144 __UNKNOWN__ __UNKNOWN__ 4 79365275 79365275 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:79365275T>C ENST00000325942.6 + 42 6105 FRAS1_ENST00000264895.6_Intron NM_001166133.1 NP_001159605.1 Q86XX4 FRAS1_HUMAN Fraser extracellular matrix complex subunit 1 NA NA cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618) metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 tcccaaagtgttgggattaca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040933 CCDS54772.1 4q21.21 2014-06-25 2014-06-25 ENSG00000138759 ENSG00000138759 80144 19185 protein-coding gene gene with protein product 607830 Fraser syndrome 1 NA 12766769, 3118036 Standard NM_025074 NA Approved FLJ22031, FLJ14927, KIAA1500 uc003hlb.2 Q86XX4 OTTHUMG00000160856 ENST00000325942.6:c.5666-1401T>C chr4.hg19:g.79365275T>C NA A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228 hg19 CCDS54772.1 0.02 1.891914 GTGxTGG COVERED . . . . . . . . . . T 11.97 1.797278 0.31777 . . ENSG00000138759 ENST00000380674 . . . 0.235 0.235 0.15431 . . . . . T 0.18841 0.0452 . . . 0.09310 N 0.999997 . . . . . . T 0.30621 -0.9972 4 0.14656 T 0.56 . . . . . . . . A 288 . ENSP00000370049:V288A V + 2 0 FRAS1 79584299 0.015000 0.18098 0.160000 0.22671 0.655000 0.38815 0.529000 0.23019 0.263000 0.21812 0.260000 0.18958 GTT NOVEL FRAS1-001 NOVEL basic|CCDS protein_coding NA protein_coding OTTHUMT00000362706.2 15 4.21195 KEEP 1 0 0 14 441 TT 0.995343 0.99105 0 + 8 60 254 0 0 19.055931 51 60 1496 123 ENST00000325942.6 0.135593 0.995687 PRDM8 56978 __UNKNOWN__ __UNKNOWN__ 4 81124243 81124243 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:81124243G>A ENST00000504452.1 + 8 2466 c.1627G>A c.(1627-1629)Gac>Aac p.D543N PRDM8_ENST00000415738.2_Missense_Mutation_p.D543N|PRDM8_ENST00000339711.4_Missense_Mutation_p.D543N Q9NQV8 PRDM8_HUMAN PR domain containing 8 543 NA corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 CGCCGCCGCGGACCCTCTAGC 0.741 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 3 4 4 NA NA NA 4 NA NA 81124243 1279 3091 4370 SO:0001583 missense AF275815 CCDS43243.1 4q21 2008-08-21 ENSG00000152784 56978 13993 protein-coding gene gene with protein product NA Standard NM_020226 NA Approved uc003hmc.4 Q9NQV8 ENST00000504452.1:c.1627G>A chr4.hg19:g.81124243G>A ENSP00000423985:p.Asp543Asn NA A8K7X2|Q6IQ36 hg19 CCDS43243.1 0.02 4.452426 GCGxACC COVERED . . . . . . . . . . G 17.54 3.416049 0.62511 . . ENSG00000152784 ENST00000504452;ENST00000339711;ENST00000415738 T;T;T 0.66099 -0.19;-0.19;-0.19 3.65 3.65 0.41850 . 0.125023 0.50627 D 0.000109 T 0.51907 0.1702 L 0.36672 1.1 0.51012 D 0.999904 P 0.37781 0.608 B 0.36534 0.227 T 0.57740 -0.7759 10 0.46703 T 0.11 . 14.2443 0.65978 0.0:0.0:1.0:0.0 . 543 Q9NQV8 PRDM8_HUMAN N 543 ENSP00000423985:D543N;ENSP00000339764:D543N;ENSP00000406998:D543N ENSP00000339764:D543N D + 1 0 PRDM8 81343267 1.000000 0.71417 0.951000 0.38953 0.593000 0.36681 7.202000 0.77856 1.844000 0.53588 0.467000 0.42956 GAC NOVEL PRDM8-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362793.1 0 21.358208 KEEP 0 0 0 71 2340 GG 1 1 0 + 40 60 1131 0 0 94.432323 110 60 3570 330 ENST00000504452.1 0.266667 1 LIN54 132660 __UNKNOWN__ __UNKNOWN__ 4 83848036 83848036 __UNKNOWN__ 3'UTR SNP T T C rs139351934 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:83848036T>C ENST00000340417.3 - 0 3846 LIN54_ENST00000442461.2_3'UTR|LIN54_ENST00000395283.2_3'UTR|LIN54_ENST00000446851.2_3'UTR|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505905.1_Intron NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 DREAM MuvB core complex component NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654) DNA binding (GO:0003677) breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) cacggcggcttatgcctgtaa 0.498 NA T||| 17 0.00339457 0 0 5008 , , NA 14683 0 NA 0.0129 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537919 CCDS3599.1, CCDS47089.1, CCDS75157.1 4q21.22 2014-07-17 2014-07-17 ENSG00000189308 ENSG00000189308 132660 25397 protein-coding gene gene with protein product CXC domain containing 1 613367 lin-54 homolog (C. elegans) NA 21498570 Standard NM_194282 XM_005262749 NA Approved MIP120, DKFZp686L1814, JC8.6, CXCDC1 uc003hnx.3 Q6MZP7 OTTHUMG00000130287 ENST00000340417.3:c.*1219A>G chr4.hg19:g.83848036T>C NA Q32M68|Q32M69|Q6N071|Q76B60 hg19 CCDS3599.1 0.02 -0.394576 GCTxATG COVERED NOVEL LIN54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252626.2 3 9.625293 KEEP 2 0 0 32 945 TT 0.999997 0.926637 0 - 3 60 100 0 0 6.647725 42 60 1167 93 ENST00000340417.3 0.066667 0.92664 COPS4 51138 __UNKNOWN__ __UNKNOWN__ 4 83988789 83988789 __UNKNOWN__ Intron SNP C C T rs190176935 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:83988789C>T ENST00000509093.1 + 8 1780 COPS4_ENST00000264389.2_Intron|COPS4_ENST00000503682.1_Intron|COPS4_ENST00000511653.1_Intron NM_001258006.1 NP_001244935.1 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 NA NA cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338) cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021) endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2) 13 Hepatocellular(203;0.114) agtgctgggactacaggcatg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100757 CCDS3600.1, CCDS58909.1 4q21.22 2013-03-14 2013-03-14 ENSG00000138663 ENSG00000138663 51138 16702 protein-coding gene gene with protein product COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4, COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) NA 9707402 Standard NM_016129 NA Approved CSN4 uc003hoa.3 Q9BT78 OTTHUMG00000130298 ENST00000509093.1:c.1002+1083C>T chr4.hg19:g.83988789C>T NA B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677 hg19 CCDS58909.1 0.02 -0.184216 GGAxTAC COVERED NOVEL COPS4-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000363091.1 8 2.406542 KEEP 0 0 0 8 276 CC 0.99257 0.420331 0 + 5 60 145 0 0 12.129977 14 60 490 32 ENST00000509093.1 0.263158 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 83998816 83998816 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:83998816T>C NA NA COPS4 (1845 upstream) : PLAC8 (12384 downstream) NA NA NA gaggccgaggtgggcggatca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.83998816T>C NA hg19 0.02 -0.201727 AGGxGGG COVERED NOVEL 0 2 2.407485 KEEP 2 0 0 8 257 TT 0.99257 0.4869 0 3 60 101 0 0 7.79224 18 60 535 51 0.142857 0.490544 HPSE 10855 __UNKNOWN__ __UNKNOWN__ 4 84231797 84231797 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:84231797T>C ENST00000513463.1 - 4 668 HPSE_ENST00000512196.1_Intron|HPSE_ENST00000311412.5_Intron|HPSE_ENST00000405413.2_Intron NM_001199830.1 NP_001186759.1 Q9Y251 HPSE_HUMAN heparanase NA NA carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042) extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634) beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Dalteparin(DB06779)|Heparin(DB01109) tgcactccagtctggctgaca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF144325 CCDS3602.1, CCDS54774.1, CCDS56337.1 4q21.3 2008-02-05 ENSG00000173083 ENSG00000173083 10855 5164 protein-coding gene gene with protein product 604724 NA 10395325, 10395326 Standard NM_006665 NM_006665 NA Approved HPA, HSE1, HPSE1 uc003hoj.4 Q9Y251 OTTHUMG00000130425 ENST00000513463.1:c.668+77A>G chr4.hg19:g.84231797T>C NA A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39 hg19 CCDS56337.1 0.02 -0.412137 CAGxCTG COVERED NOVEL HPSE-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000363967.1 11 7.219939 KEEP 1 0 0 24 724 TT 0.999931 0.948336 0 - 3 60 103 0 1 7.249012 33 60 947 91 ENST00000513463.1 0.083333 0.948402 HPSE 10855 __UNKNOWN__ __UNKNOWN__ 4 84231802 84231802 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:84231802C>G ENST00000513463.1 - 4 668 HPSE_ENST00000512196.1_Intron|HPSE_ENST00000311412.5_Intron|HPSE_ENST00000405413.2_Intron NM_001199830.1 NP_001186759.1 Q9Y251 HPSE_HUMAN heparanase NA NA carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042) extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634) beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Dalteparin(DB06779)|Heparin(DB01109) tccagtctggctgacagagtg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF144325 CCDS3602.1, CCDS54774.1, CCDS56337.1 4q21.3 2008-02-05 ENSG00000173083 ENSG00000173083 10855 5164 protein-coding gene gene with protein product 604724 NA 10395325, 10395326 Standard NM_006665 NM_006665 NA Approved HPA, HSE1, HPSE1 uc003hoj.4 Q9Y251 OTTHUMG00000130425 ENST00000513463.1:c.668+72G>C chr4.hg19:g.84231802C>G NA A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39 hg19 CCDS56337.1 0.02 -0.421089 TGGxTGA COVERED NOVEL HPSE-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000363967.1 11 3.948895 KEEP 1 1 34 25 916 CC 0.999957 0.959818 0 - 3 60 100 0 0 6.805926 37 60 1282 95 ENST00000513463.1 0.075 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 86391994 86391994 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:86391994A>G NA NA RN7SKP48 (370018 upstream) : ARHGAP24 (4272 downstream) NA NA NA gattacaggcatgagccaccg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.86391994A>G NA hg19 0.02 -0.157863 GGCxTGA COVERED NOVEL 0 1 2.708299 KEEP 2 0 0 9 284 AA 0.99254 0.320398 0 3 60 93 0 0 7.21049 15 60 434 43 0.166667 0.322807 MAPK10 5602 __UNKNOWN__ __UNKNOWN__ 4 86938314 86938314 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:86938314C>G ENST00000395169.3 - 0 2068 MAPK10_ENST00000395166.1_3'UTR|MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395157.3_3'UTR|MAPK10_ENST00000449047.2_3'UTR|MAPK10_ENST00000361569.2_3'UTR|MAPK10_ENST00000359221.3_3'UTR NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 NA NA activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708) breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) gtgtgtgtgtctgcgtgtgtg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U07620 CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1 4q22-q23 2011-06-09 ENSG00000109339 ENSG00000109339 5602 2.7.11.1 Mitogen-activated protein kinase cascade / Kinases 6872 protein-coding gene gene with protein product 602897 PRKM10 NA 8654373, 12436199 Standard NM_002753 NA Approved JNK3, p493F12, p54bSAPK uc003hpt.3 P53779 OTTHUMG00000130604 ENST00000395169.3:c.*67G>C chr4.hg19:g.86938314C>G NA A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1 hg19 CCDS3612.1 0.02 1.622424 TGTxTGC COVERED NOVEL MAPK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253054.3 7 7.265631 KEEP 0 1 13 29 972 CC 0.999997 0.998865 0 - 4 60 134 2 0 8.53138 71 70 2258 135 ENST00000395169.3 0.053333 0.998867 AFF1 4299 __UNKNOWN__ __UNKNOWN__ 4 87958097 87958097 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:87958097T>C ENST00000307808.6 + 2 437 AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Intron NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 NA NA positive regulation of transcription, DNA-templated (GO:0045893) transcription elongation factor complex (GO:0008023) sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) gatcctcccatctcagcttcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L22179 CCDS3616.1, CCDS54775.1 4q21.3 2009-08-04 2005-06-27 2005-06-27 ENSG00000172493 ENSG00000172493 4299 7135 protein-coding gene gene with protein product 159557 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1 PBM1, MLLT2 NA 7689231, 1423625, 8353274 Standard NM_005935 NM_005935 NA Approved AF-4, AF4 uc011ccz.2 P51825 OTTHUMG00000130603 ENST00000307808.6:c.18-9221T>C chr4.hg19:g.87958097T>C NA B4DTU1|E9PBM3 hg19 CCDS3616.1 0.02 -0.438537 CCAxCTC COVERED NOVEL AFF1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253053.3 2 18.340343 KEEP 0 0 0 61 1934 TT 1 0.959859 0 + 4 60 124 0 0 8.45279 41 60 1238 114 ENST00000307808.6 0.088889 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 88165233 88165233 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:88165233G>A NA NA KLHL8 (3767 upstream) : RP11-529H2.1 (17849 downstream) NA NA NA ggtggctcacgcctataatcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.88165233G>A NA hg19 0.02 -0.149053 CACxCCT COVERED NOVEL 0 8 2.708573 KEEP 2 0 0 9 298 GG 0.99257 0.320408 0 4 60 113 0 0 9.301794 12 60 381 34 0.25 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 88165237 88165237 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:88165237A>G NA NA KLHL8 (3771 upstream) : RP11-529H2.1 (17845 downstream) NA NA NA gctcacgcctataatcccagc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.88165237A>G NA hg19 0.02 -0.14033 CCTxTAA COVERED NOVEL 0 8 2.708208 KEEP 2 0 0 9 280 AA 0.99257 0.289832 0 5 60 164 0 0 14.823248 9 60 259 33 0.357143 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 88188757 88188757 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:88188757G>A NA NA RP11-529H2.1 (783 upstream) : MIR5705 (32889 downstream) NA NA NA GAggccaggcgcagtggctca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.88188757G>A NA hg19 0.02 -0.209776 GGCxCAG COVERED NOVEL 0 7 2.708686 KEEP 0 0 0 9 309 GT 0.992708 0.518353 0 3 60 93 0 0 6.870637 20 60 596 45 0.130435 0.522161 FAM13A 10144 __UNKNOWN__ __UNKNOWN__ 4 89827387 89827387 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:89827387T>C ENST00000264344.5 - 6 1051 FAM13A_ENST00000502459.1_Intron|FAM13A_ENST00000511976.1_Intron NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 tgcagtgagctgagattgcgc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020721 CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1 4q22.1 2011-09-07 2009-01-20 2009-01-20 ENSG00000138640 ENSG00000138640 10144 Rho GTPase activating proteins 19367 protein-coding gene gene with protein product 613299 family with sequence similarity 13, member A1 FAM13A1 NA Standard NM_014883 NA Approved KIAA0914, ARHGAP48 uc003hse.2 O94988 OTTHUMG00000161006 ENST00000264344.5:c.843+142A>G chr4.hg19:g.89827387T>C NA B4DLC1|Q24JP0|Q5PR21|Q8NBA3 hg19 CCDS34029.1 0.02 -0.280656 AGCxGAG COVERED NOVEL FAM13A-022 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363371.1 2 2.407231 KEEP 1 0 0 8 247 TT 0.99257 0.734176 0 - 4 60 126 0 0 9.394613 26 60 765 48 ENST00000264344.5 0.133333 0.739671 RP11-168E14.1 0 __UNKNOWN__ __UNKNOWN__ 4 95667212 95667212 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:95667212A>G ENST00000510795.1 - 0 216 NA NA NA tataatcccaacactttggga 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000510795.1: chr4.hg19:g.95667212A>G NA hg19 0.02 -0.18419 CCAxCAC COVERED NOVEL RP11-168E14.1-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000364119.2 9 2.708409 KEEP 0 0 0 9 295 AA 0.99254 0.420319 0 - 3 60 103 0 0 8.133241 16 60 488 44 ENST00000510795.1 0.157895 0.423478 ADH5 128 __UNKNOWN__ __UNKNOWN__ 4 100004102 100004102 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:100004102T>C ENST00000296412.8 - 3 165 ADH5_ENST00000512991.1_Intron NM_000671.3 NP_000662.3 alcohol dehydrogenase 5 (class III), chi polypeptide NA NA endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) gctgggattataggcgtgagc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M29872 CCDS47111.1 4q23 2012-07-13 2003-06-19 ENSG00000197894 ENSG00000197894 128 1.1.1.284 Alcohol dehydrogenases 253 protein-coding gene gene with protein product 103710 formaldehyde dehydrogenase FDH NA 1446828, 6424546 Standard NM_000671 NM_000671 NA Approved ADH-3, ADHX uc003hui.3 P11766 OTTHUMG00000161230 ENST00000296412.8:c.115-835A>G chr4.hg19:g.100004102T>C NA hg19 CCDS47111.1 0.02 -0.184118 TTAxAGG COVERED NOVEL ADH5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364224.1 8 2.981635 KEEP 0 0 0 10 267 TT 0.992708 0.42039 0 - 3 60 101 0 0 7.861354 17 60 462 43 ENST00000296412.8 0.15 0.423478 RP11-696N14.1 0 __UNKNOWN__ __UNKNOWN__ 4 100193967 100193967 __UNKNOWN__ RNA SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:100193967G>C ENST00000500358.2 + 0 3789 RP11-696N14.1_ENST00000509295.1_RNA|RP11-696N14.1_ENST00000510764.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA NR_037884.1 NA NA NA ggattacaggggtgagccact 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000500358.2: chr4.hg19:g.100193967G>C NA hg19 0.02 -0.262436 AGGxGTG COVERED NOVEL RP11-696N14.1-001 KNOWN basic antisense NA antisense OTTHUMT00000364248.1 1 4.459629 KEEP 0 0 0 15 460 GG 0.997832 0.71576 0 + 4 60 134 0 0 10.468199 22 60 713 61 ENST00000500358.2 0.153846 0.717315 LAMTOR3 8649 __UNKNOWN__ __UNKNOWN__ 4 100801736 100801736 __UNKNOWN__ 3'UTR SNP C C G rs570995524 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:100801736C>G ENST00000499666.2 - 0 1982 NM_001243736.1|NM_021970.3 NP_001230665.1|NP_068805.1 Q9UHA4 LTOR3_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 NA NA cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008) extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Ragulator complex (GO:0071986) endometrium(1)|large_intestine(1)|lung(1) 3 ctgggcaacacagcaagactc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF201947 CCDS3652.1, CCDS58920.1 4q24-q26 2012-02-28 2011-02-15 2011-02-15 ENSG00000109270 ENSG00000109270 8649 15606 protein-coding gene gene with protein product MEK partner 1 603296 mitogen-activated protein kinase kinase 1 interacting protein 1, MAPK scaffold protein 1 MAP2K1IP1, MAPKSP1 NA 9733512, 15016825 Standard NM_021970 NM_021970 NA Approved MP1, MAPBP, Ragulator3 uc003hvg.2 Q9UHA4 OTTHUMG00000131050 ENST00000499666.2:c.*1415G>C chr4.hg19:g.100801736C>G NA B2R4A1|J3KMX4|Q9H364 hg19 CCDS3652.1 0.02 -0.38596 ACAxAGC COVERED NOVEL LAMTOR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253698.2 5 3.912233 KEEP 0 0 0 13 446 CC 0.994391 0.921442 0 - 4 60 109 0 0 7.412904 31 60 1016 61 ENST00000499666.2 0.114286 0.92664 SLC39A8 64116 __UNKNOWN__ __UNKNOWN__ 4 103183510 103183510 __UNKNOWN__ 3'UTR SNP C C T rs151390 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:103183510C>T ENST00000394833.2 - 0 2550 SLC39A8_ENST00000424970.2_Intron|SLC39A8_ENST00000356736.4_3'UTR NM_001135148.1|NM_022154.5 NP_001128620.1|NP_071437.3 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 NA NA transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829) integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886) metal ion transmembrane transporter activity (GO:0046873) large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) TCCAGCTTTTCGTGGAATCTG 0.403 NA C||| 1114 0.222444 0.3343 0.17 5008 , , NA 18238 0.0446 NA 0.2654 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3656.1, CCDS47117.1 4q22-q24 2013-05-22 ENSG00000138821 ENSG00000138821 64116 Solute carriers 20862 protein-coding gene gene with protein product 608732 solute carrier family 39 (metal ion transporter), member 8 NA 12504855, 12659941 Standard NM_022154 NM_001135146 NA Approved BIGM103 uc003hwc.2 Q9C0K1 OTTHUMG00000131120 ENST00000394833.2:c.*691G>A chr4.hg19:g.103183510C>T NA B4E2H3|Q96SM9|Q9BVC0|Q9NSA4 hg19 CCDS3656.1 0.02 -0.368383 TTTxGTG COVERED NOVEL SLC39A8-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253798.1 2 5.717895 KEEP 0 0 0 19 619 CC 0.99986 0.899188 0 - 5 60 144 0 0 10.133305 37 60 1159 78 ENST00000394833.2 0.119048 0.899314 RP11-499E18.1 0 __UNKNOWN__ __UNKNOWN__ 4 103340862 103340862 __UNKNOWN__ lincRNA SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:103340862A>C ENST00000502883.1 - 0 277 NA NA NA acctgtaatcacagctatttg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000502883.1: chr4.hg19:g.103340862A>C NA hg19 0.02 -0.096472 ATCxCAG UNCOVERED NOVEL RP11-499E18.1-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000363754.1 5 2.405584 KEEP 0 0 0 8 234 AA 0.99257 0.119541 0 - 3 60 85 0 0 7.278182 7 60 218 21 ENST00000502883.1 0.3 0.120436 MANBA 4126 __UNKNOWN__ __UNKNOWN__ 4 103675131 103675131 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:103675131A>G ENST00000226578.4 - 1 277 MANBA_ENST00000505239.1_Intron NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal NA NA cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355) intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764) beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537) cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) cttcactccaacctgggcgac 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3658.1 4q24 2013-09-20 ENSG00000109323 ENSG00000109323 4126 3.2.1.25 6831 protein-coding gene gene with protein product 609489 NA 7876128 Standard NM_005908 NA Approved uc003hwg.3 O00462 OTTHUMG00000131123 ENST00000226578.4:c.177+6743T>C chr4.hg19:g.103675131A>G NA Q96BC3|Q9NYX9 hg19 CCDS3658.1 0.02 -0.420937 CCAxCCT COVERED NOVEL MANBA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253803.2 0 6.92162 KEEP 0 0 0 23 754 AA 0.999892 0.9483 0 - 3 60 99 1 0 6.741289 36 60 1050 80 ENST00000226578.4 0.076923 0.948402 SLC9B2 133308 __UNKNOWN__ __UNKNOWN__ 4 103993493 103993493 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:103993493C>T ENST00000503103.1 - 1 149 SLC9B2_ENST00000505838.1_Intron|SLC9B2_ENST00000362026.3_Intron|SLC9B2_ENST00000394785.3_Intron|SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000339611.4_Intron Q86UD5 SL9B2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 NA NA ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) solute:proton antiporter activity (GO:0015299) NA ggattacaggcgtgagccacc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK172823 CCDS3662.1, CCDS75173.1, CCDS75174.1 4q24 2013-05-22 2012-03-22 2011-08-03 ENSG00000164038 ENSG00000164038 133308 Solute carriers 25143 protein-coding gene gene with protein product 611789 Na+/H+ exchanger domain containing 2, solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 NHEDC2 NA 18600791 Standard NM_178833 XM_005262758 NA Approved FLJ23984, NHA2 uc003hwy.3 Q86UD5 OTTHUMG00000131125 ENST00000503103.1:c.41+3847G>A chr4.hg19:g.103993493C>T NA B5ME52|Q6ZMD8|Q96D95 hg19 0.02 -0.210521 AGGxGTG COVERED NOVEL SLC9B2-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363236.1 8 3.611684 KEEP 4 0 0 12 420 CC 0.993634 0.518837 0 - 3 60 91 0 0 6.727424 19 60 619 58 ENST00000503103.1 0.136364 0.522161 PPA2 27068 __UNKNOWN__ __UNKNOWN__ 4 106290649 106290649 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:106290649A>G ENST00000341695.5 - 0 1268 PPA2_ENST00000348706.5_3'UTR NM_176869.2 NP_789845.1 Q9H2U2 IPYR2_HUMAN pyrophosphatase (inorganic) 2 NA NA diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759) inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 11 Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.03e-07) caaagtgctgaaattacaggc 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1 4q25 2005-10-07 ENSG00000138777 ENSG00000138777 27068 28883 protein-coding gene gene with protein product 609988 NA 11042152 Standard NM_176869 NM_176869 NA Approved FLJ20459 uc003hxl.3 Q9H2U2 OTTHUMG00000128781 ENST00000341695.5:c.*233T>C chr4.hg19:g.106290649A>G NA B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0 hg19 CCDS3667.1 0.02 1.883041 CTGxAAT COVERED NOVEL PPA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250704.4 12 4.48469 KEEP 2 2 69 39 1279 AA 1 0.996233 0 - 4 60 136 0 0 9.221473 53 60 1604 153 ENST00000341695.5 0.070175 0.996233 GSTCD 79807 __UNKNOWN__ __UNKNOWN__ 4 106767318 106767318 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:106767318A>G ENST00000515279.1 + 0 2706 GSTCD_ENST00000394728.3_3'UTR|GSTCD_ENST00000394730.3_3'UTR Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing NA NA extracellular vesicular exosome (GO:0070062) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) gctcatgcctataatcccagc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC032942 CCDS3672.2, CCDS43257.1 4q24 2008-02-05 2006-05-09 ENSG00000138780 ENSG00000138780 79807 25806 protein-coding gene gene with protein product 615912 Glutathione S-transferase, C-terminal domain containing NA 12477932 Standard NM_024751 NM_001031720 NA Approved FLJ13273 uc003hxz.4 Q8NEC7 OTTHUMG00000131211 ENST00000515279.1:c.*584A>G chr4.hg19:g.106767318A>G NA A8K8J0|A8MVD3|H9KV97|Q9H8S3 hg19 CCDS43257.1 0.02 1.590688 CCTxTAA COVERED NOVEL GSTCD-006 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363981.1 14 7.155515 KEEP 0 1 38 37 1100 AA 1 0.999862 0 + 6 60 183 0 0 11.992902 72 60 1991 168 ENST00000515279.1 0.076923 0.999862 GSTCD 79807 __UNKNOWN__ __UNKNOWN__ 4 106767335 106767335 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:106767335A>G ENST00000515279.1 + 0 2723 GSTCD_ENST00000394728.3_3'UTR|GSTCD_ENST00000394730.3_3'UTR Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing NA NA extracellular vesicular exosome (GO:0070062) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) cagcactttgagaggccaagg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC032942 CCDS3672.2, CCDS43257.1 4q24 2008-02-05 2006-05-09 ENSG00000138780 ENSG00000138780 79807 25806 protein-coding gene gene with protein product 615912 Glutathione S-transferase, C-terminal domain containing NA 12477932 Standard NM_024751 NM_001031720 NA Approved FLJ13273 uc003hxz.4 Q8NEC7 OTTHUMG00000131211 ENST00000515279.1:c.*601A>G chr4.hg19:g.106767335A>G NA A8K8J0|A8MVD3|H9KV97|Q9H8S3 hg19 CCDS43257.1 0.02 3.921153 TTGxGAG COVERED NOVEL GSTCD-006 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363981.1 18 4.584163 KEEP 0 2 71 40 1271 AA 1 0.999992 0 + 6 60 182 0 0 11.466202 90 60 2707 209 ENST00000515279.1 0.0625 0.999992 GSTCD 79807 __UNKNOWN__ __UNKNOWN__ 4 106767856 106767856 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:106767856T>C ENST00000515279.1 + 0 3244 GSTCD_ENST00000394728.3_3'UTR|GSTCD_ENST00000394730.3_3'UTR Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing NA NA extracellular vesicular exosome (GO:0070062) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) gagacagagtttcactcttgt 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC032942 CCDS3672.2, CCDS43257.1 4q24 2008-02-05 2006-05-09 ENSG00000138780 ENSG00000138780 79807 25806 protein-coding gene gene with protein product 615912 Glutathione S-transferase, C-terminal domain containing NA 12477932 Standard NM_024751 NM_001031720 NA Approved FLJ13273 uc003hxz.4 Q8NEC7 OTTHUMG00000131211 ENST00000515279.1:c.*1122T>C chr4.hg19:g.106767856T>C NA A8K8J0|A8MVD3|H9KV97|Q9H8S3 hg19 CCDS43257.1 0.02 -0.271885 AGTxTCA UNCOVERED NOVEL GSTCD-006 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363981.1 5 2.407305 KEEP 2 0 0 8 253 TT 0 0 0 + 3 60 107 0 0 8.264557 20 67 592 44 ENST00000515279.1 0.130435 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 108340803 108340803 __UNKNOWN__ IGR SNP T T C rs558991256 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:108340803T>C NA NA RP11-713M6.2 (117776 upstream) : RNU6-551P (15471 downstream) NA NA NA ctgctccaccttgactcattt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.108340803T>C NA hg19 0.02 2.105565 ACCxTGA COVERED NOVEL 0 8 2.407373 KEEP 0 0 0 8 251 TT 0.99257 0.969607 0 4 60 142 0 0 9.986302 48 60 1476 103 0.076923 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 110627839 110627839 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:110627839G>C NA NA CASP6 (3100 upstream) : PLA2G12A (3305 downstream) NA NA NA gtaatcccaggactttgggag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.110627839G>C NA hg19 0.02 -0.131582 CAGxACT COVERED NOVEL 0 3 2.407843 KEEP 0 0 0 8 284 GG 0.99257 0.22747 0 3 60 108 0 0 9.181819 10 60 329 38 0.230769 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 111337190 111337190 __UNKNOWN__ IGR SNP T T C rs536711999 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:111337190T>C NA NA RNU6-205P (137743 upstream) : snoU2_19 (17074 downstream) NA NA NA gggcggatcatgaggtcagga 0.532 NA t||| 3 0.000599042 0.0023 0 5008 , , NA 13224 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.111337190T>C NA hg19 0.02 -0.131569 TCAxGAG COVERED NOVEL 0 1 3.008627 KEEP 1 0 0 10 310 TT 0.992708 0.227502 0 3 60 95 0 0 7.772895 11 60 336 37 0.214286 0.229173 C4orf21 0 __UNKNOWN__ __UNKNOWN__ 4 113530489 113530489 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:113530489A>G ENST00000505019.1 - 8 2844 C4orf21_ENST00000309071.5_Intron NM_018392.4 NP_060862.3 Q86YA3 ZGRF1_HUMAN NA NA integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) gattacaggcatgagccacca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 23 26 25 NA NA NA 4 NA NA 113530489 2197 4297 6494 SO:0001627 intron_variant NA NA NA NA ENST00000505019.1:c.2718+45T>C chr4.hg19:g.113530489A>G NA B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4 hg19 0.02 1.821684 GGCxTGA COVERED NOVEL C4orf21-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000256413.1 13 3.843537 KEEP 1 1 38 26 766 AA 0.999997 0.998693 0 - 4 60 135 0 0 8.971219 58 60 1720 159 ENST00000505019.1 0.064516 0.998696 NDST4 64579 __UNKNOWN__ __UNKNOWN__ 4 115750972 115750972 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:115750972G>C ENST00000264363.2 - 13 3151 c.2473C>G c.(2473-2475)Cga>Gga p.R825G NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 825 Heparan sulfate N-sulfotransferase 4. NA heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) [heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GGATATTTTCGGCCTTTGCTT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 103 102 103 NA NA NA 4 NA NA 115750972 2203 4299 6502 SO:0001583 missense AB036429 CCDS3706.1 4q26 2008-02-05 ENSG00000138653 ENSG00000138653 64579 Sulfotransferases, membrane-bound 20779 protein-coding gene gene with protein product 615039 NA 11087757 Standard NM_022569 NM_022569 NA Approved uc003ibu.3 Q9H3R1 OTTHUMG00000132916 ENST00000264363.2:c.2473C>G chr4.hg19:g.115750972G>C ENSP00000264363:p.Arg825Gly NA Q2KHM8 hg19 CCDS3706.1 0.02 -0.377179 TTCxGCC COVERED . . . . . . . . . . G 18.07 3.541974 0.65198 . . ENSG00000138653 ENST00000264363 T 0.57907 0.37 5.59 3.83 0.44106 Sulfotransferase domain (1); 0.000000 0.85682 D 0.000000 T 0.70176 0.3194 M 0.68952 2.095 0.58432 D 0.999998 D 0.89917 1.0 D 0.91635 0.999 T 0.73610 -0.3928 10 0.87932 D 0 . 15.0302 0.71701 0.0:0.0:0.7397:0.2603 . 825 Q9H3R1 NDST4_HUMAN G 825 ENSP00000264363:R825G ENSP00000264363:R825G R - 1 2 NDST4 115970421 1.000000 0.71417 0.992000 0.48379 0.993000 0.82548 2.455000 0.44988 0.793000 0.33875 -0.202000 0.12741 CGA NOVEL NDST4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256427.1 3 9.028895 KEEP 0 0 0 30 1023 GG 0.999997 0.909066 0 - 3 60 99 0 0 6.640346 39 60 1251 107 ENST00000264363.2 0.071429 0.909069 SEC24D 9871 __UNKNOWN__ __UNKNOWN__ 4 119657424 119657424 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:119657424G>T ENST00000511481.1 - 12 1532 SEC24D_ENST00000379735.5_Intron|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000280551.6_Intron|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_3'UTR O94855 SC24D_HUMAN SEC24 family member D NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139) zinc ion binding (GO:0008270) breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 cctctcaaagggctgggatta 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018298 CCDS3710.1 4q26 2013-10-21 2013-10-21 ENSG00000150961 ENSG00000150961 9871 10706 protein-coding gene gene with protein product 607186 SEC24 (S. cerevisiae) related gene family, member D, SEC24 family, member D (S. cerevisiae) NA 9872452, 10075675 Standard NM_014822 NA Approved KIAA0755 uc003ici.4 O94855 OTTHUMG00000132957 ENST00000511481.1:c.1389+1991C>A chr4.hg19:g.119657424G>T NA Q8IYI7 hg19 0.02 -0.14033 AAGxGCT COVERED NOVEL SEC24D-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000256515.4 6 2.708725 KEEP 1 0 0 9 310 GG 0.99254 0.289823 0 - 3 60 87 0 0 7.082196 10 60 337 36 ENST00000511481.1 0.230769 0.292001 PDE5A 8654 __UNKNOWN__ __UNKNOWN__ 4 120422506 120422506 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:120422506T>C ENST00000264805.5 - 20 2738 PDE5A_ENST00000354960.3_Intron|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Intron NM_033430.2 NP_236914.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific NA NA blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165) cytosol (GO:0005829) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872) breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862) cactctgttgtccaggctgga 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D89094 CCDS3713.1, CCDS34055.1 4q27 2008-05-15 ENSG00000138735 ENSG00000138735 8654 3.1.4.17 Phosphodiesterases 8784 protein-coding gene gene with protein product 603310 NA 9714779, 9642111 Standard NM_001083 NM_033437 NA Approved uc003idh.3 O76074 OTTHUMG00000132971 ENST00000264805.5:c.2281-98A>G chr4.hg19:g.120422506T>C NA A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6 hg19 CCDS34055.1 0.02 -0.271858 TTGxCCA COVERED NOVEL PDE5A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256530.1 6 3.145114 KEEP 1 1 36 23 738 TT 0.999909 0.71725 0 - 4 60 129 0 0 9.891607 23 60 672 62 ENST00000264805.5 0.148148 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 121415313 121415313 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:121415313A>G NA NA RP11-679C8.2 (77392 upstream) : RP11-501E14.1 (144931 downstream) NA NA NA ctcaccgcgaaggtccgcggc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.121415313A>G NA hg19 0.02 -0.219277 CGAxGGT COVERED NOVEL 0 2 2.708625 KEEP 0 0 0 9 299 AA 0.99254 0.548763 0 3 60 105 0 0 8.005281 21 60 643 45 0.125 0.552887 NUDT6 11162 __UNKNOWN__ __UNKNOWN__ 4 123844080 123844080 __UNKNOWN__ 5'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:123844080T>A ENST00000339154.2 - 0 43 NM_198041.2 NP_932158.1 P53370 NUDT6_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 6 NA NA mitochondrion (GO:0005739)|nucleus (GO:0005634) growth factor activity (GO:0008083)|hydrolase activity (GO:0016787) endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 TCCTGGAACCTATCTTCTTTC 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF019632 CCDS3729.1, CCDS43268.1 4q26 2011-02-21 ENSG00000170917 ENSG00000170917 11162 Nudix motif containing 8053 protein-coding gene gene with protein product 606261 NA 7984147, 10022609 Standard NM_007083 NM_198041 NA Approved gfg-1, gfg, FGF2AS, FGF-AS uc003iew.3 P53370 OTTHUMG00000039507 ENST00000339154.2:c.-394A>T chr4.hg19:g.123844080T>A NA A8K756|O95097|Q9UQD9 hg19 CCDS3729.1 0.02 -0.149041 ACCxATC COVERED NOVEL NUDT6-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000095332.2 1 6.618454 KEEP 0 0 0 22 658 TT 0.999879 0.291966 0 - 4 60 121 0 0 9.982065 13 60 352 41 ENST00000339154.2 0.235294 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 124887668 124887668 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:124887668T>C NA NA AC096732.2 (220840 upstream) : CTD-2325B11.1 (182863 downstream) NA NA NA tggtggctcatgcctgtaatc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.124887668T>C NA hg19 0.02 -0.20173 TCAxGCC UNCOVERED NOVEL 0 9 2.70835 KEEP 6 0 0 9 286 TT 0 0 0 3 60 104 0 0 8.233159 16 60 483 50 0.157895 0.490544 C4orf29 80167 __UNKNOWN__ __UNKNOWN__ 4 128952331 128952331 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:128952331T>C ENST00000444616.1 + 0 1992 C4orf29_ENST00000398965.1_3'UTR|C4orf29_ENST00000388795.5_Intron Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 NA NA extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TTATGCTggctgggcgcggtg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024759 CCDS47131.1 4q28.2 2008-02-05 ENSG00000164074 ENSG00000164074 80167 26111 protein-coding gene gene with protein product NA 12477932 Standard NM_001039717 XM_006714318 NA Approved FLJ21106 uc021xrt.1 Q0P651 OTTHUMG00000133304 ENST00000444616.1:c.*500T>C chr4.hg19:g.128952331T>C NA A1A4W8|A1A4W9|Q9H7A7 hg19 0.02 -0.385812 GGCxGGG COVERED NOVEL C4orf29-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000257098.1 2 7.222376 KEEP 0 0 0 24 768 TT 0.999909 0.918088 0 + 4 60 132 0 0 9.464185 36 60 1077 95 ENST00000444616.1 0.1 0.918171 C4orf29 80167 __UNKNOWN__ __UNKNOWN__ 4 128952345 128952345 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:128952345T>C ENST00000444616.1 + 0 2006 C4orf29_ENST00000398965.1_3'UTR|C4orf29_ENST00000388795.5_Intron Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 NA NA extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 cgcggtggcttacgcctgtaa 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024759 CCDS47131.1 4q28.2 2008-02-05 ENSG00000164074 ENSG00000164074 80167 26111 protein-coding gene gene with protein product NA 12477932 Standard NM_001039717 XM_006714318 NA Approved FLJ21106 uc021xrt.1 Q0P651 OTTHUMG00000133304 ENST00000444616.1:c.*514T>C chr4.hg19:g.128952345T>C NA A1A4W8|A1A4W9|Q9H7A7 hg19 0.02 -0.36824 GCTxACG COVERED NOVEL C4orf29-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000257098.1 4 2.241335 KEEP 0 1 39 21 626 TT 0.999879 0.899205 0 + 4 60 137 0 0 10.10684 33 60 891 87 ENST00000444616.1 0.108108 0.899314 C4orf29 80167 __UNKNOWN__ __UNKNOWN__ 4 128960060 128960060 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:128960060T>C ENST00000388795.5 + 0 4644 Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 NA NA extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 agcaaaactctgtctcaaaaa 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024759 CCDS47131.1 4q28.2 2008-02-05 ENSG00000164074 ENSG00000164074 80167 26111 protein-coding gene gene with protein product NA 12477932 Standard NM_001039717 XM_006714318 NA Approved FLJ21106 uc021xrt.1 Q0P651 OTTHUMG00000133304 ENST00000388795.5:c.*3092T>C chr4.hg19:g.128960060T>C NA A1A4W8|A1A4W9|Q9H7A7 hg19 0.02 3.669535 CTCxGTC COVERED NOVEL C4orf29-002 PUTATIVE non_canonical_conserved|basic protein_coding NA protein_coding OTTHUMT00000257099.2 23 8.859059 KEEP 2 1 30 40 1245 TT 1 0.999997 0 + 5 60 168 0 0 10.483911 99 60 2957 212 ENST00000388795.5 0.048077 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 128963135 128963135 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:128963135G>A NA NA C4orf29 (2269 upstream) : LARP1B (19287 downstream) NA NA NA ggcagatcacgaggtcaggag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.128963135G>A NA hg19 0.02 -0.263159 CACxAGG COVERED NOVEL 0 23 3.310618 KEEP 23 0 0 11 373 GG 0.99257 0.688515 0 4 60 112 0 0 8.19286 23 60 768 95 0.148148 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 132656357 132656357 __UNKNOWN__ IGR SNP A A C rs200591979 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:132656357A>C NA NA RN7SL205P (14659 upstream) : SNORA70 (32937 downstream) NA NA NA gcggagggtcaaccaggagga 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.132656357A>C NA hg19 0.02 -0.289351 GTCxACC COVERED NOVEL 0 0 2.405422 KEEP 1 0 0 8 224 AA 0.99257 0.775257 0 3 25 91 0 0 6.300408 27 60 750 65 0.1 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 132656358 132656358 __UNKNOWN__ IGR SNP A A G rs201724862 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:132656358A>G NA NA RN7SL205P (14660 upstream) : SNORA70 (32936 downstream) NA NA NA cggagggtcaaccaggaggaa 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.132656358A>G NA hg19 0.02 -0.298158 TCAxCCA COVERED NOVEL 0 0 2.406834 KEEP 1 0 0 8 243 AA 0.99257 0.775257 0 3 25 108 0 0 7.952342 28 60 798 65 0.096774 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 134534432 134534432 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:134534432C>T NA NA AC105252.1 (52343 upstream) : RP11-427M20.1 (257968 downstream) NA NA NA ggattacaggcgtgagccacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.134534432C>T NA hg19 0.02 -0.280596 AGGxGTG COVERED NOVEL 0 7 2.407879 KEEP 2 0 0 8 286 CC 0.99257 0.734176 0 4 60 109 0 0 7.699178 26 60 826 62 0.133333 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 136286781 136286781 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:136286781A>T NA NA RNU6-569P (50104 upstream) : AC108867.1 (5963 downstream) NA NA NA atgcctgtaaacccagcactt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.136286781A>T NA hg19 0.02 -0.201699 TAAxCCC COVERED NOVEL 0 8 2.40712 KEEP 0 0 0 8 248 AA 0.99257 0.4869 0 3 60 92 0 0 6.961317 17 60 505 43 0.15 0.490544 SLC7A11 23657 __UNKNOWN__ __UNKNOWN__ 4 139091697 139091697 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:139091697C>T ENST00000280612.5 - 0 3198 SLC7A11-AS1_ENST00000510767.1_RNA|SLC7A11-AS1_ENST00000512786.1_RNA NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085) cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791) cystine:glutamate antiporter activity (GO:0015327) breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834) ctagaactcccgacctcaggt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB026891 CCDS3742.1 4q28-q32 2013-05-22 2011-07-12 ENSG00000151012 ENSG00000151012 23657 Solute carriers 11059 protein-coding gene gene with protein product 607933 NA 10206947, 12763038 Standard XM_005262875 NA Approved xCT uc021xrw.1 Q9UPY5 OTTHUMG00000133396 ENST00000280612.5:c.*1413G>A chr4.hg19:g.139091697C>T NA A8K2U4 hg19 CCDS3742.1 0.02 -0.271923 TCCxGAC COVERED NOVEL SLC7A11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257251.2 2 3.009676 KEEP 0 0 0 10 339 CC 0.992708 0.712085 0 - 4 60 116 0 0 8.592623 23 60 757 47 ENST00000280612.5 0.148148 0.717315 NAA15 80155 __UNKNOWN__ __UNKNOWN__ 4 140336243 140336243 __UNKNOWN__ Intron SNP G G C rs200166537 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:140336243G>C ENST00000515576.1 + 4 288 RP11-83A24.2_ENST00000608661.1_RNA|RP11-83A24.2_ENST00000608345.1_RNA|RP11-83A24.2_ENST00000609359.1_RNA|RP11-83A24.2_ENST00000608663.1_RNA Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit NA NA angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022) NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 gttcatacacgccctcccctt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY039242 CCDS43270.1 4q31.1 2010-01-14 2010-01-14 2010-01-14 ENSG00000164134 ENSG00000164134 80155 N(alpha)-acetyltransferase subunits 30782 protein-coding gene gene with protein product 608000 NMDA receptor regulated 1 NARG1 NA 12140756, 11478804, 19660095 Standard NM_057175 XM_005263236 NA Approved TBDN100, NATH, FLJ13340 uc003ihu.1 Q9BXJ9 OTTHUMG00000137363 ENST00000515576.1:c.214-2777G>C chr4.hg19:g.140336243G>C NA D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6 hg19 0.02 -0.315797 CACxCCC COVERED NOVEL NAA15-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000364343.2 4 4.213662 KEEP 2 0 0 14 497 GG 0.995343 0.831824 0 + 3 40 101 0 0 7.252391 28 60 936 70 ENST00000515576.1 0.096774 0.835716 MAML3 55534 __UNKNOWN__ __UNKNOWN__ 4 140699893 140699893 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:140699893T>C ENST00000509479.2 - 3 2936 NM_018717.4 NP_061187 mastermind-like 3 (Drosophila) NA NA breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) aatcccagcattttgggaggc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058719 CCDS54805.1 4q31.1 2014-08-12 2003-09-24 ENSG00000196782 ENSG00000196782 55534 16272 protein-coding gene gene with protein product mastermind (drosophila)-like 3 608991 trinucleotide repeat containing 3 TNRC3 NA 12370315, 12386158 Standard NM_018717 NA Approved KIAA1816, MAM2, CAGH3, GDN uc021xsg.1 Q96JK9 OTTHUMG00000161441 ENST00000509479.2:c.2080-48072A>G chr4.hg19:g.140699893T>C NA hg19 CCDS54805.1 0.02 -0.149079 GCAxTTT COVERED NOVEL MAML3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364934.2 7 2.404574 KEEP 2 0 0 8 227 TT 0.99257 0.289832 0 - 3 60 107 0 0 8.691878 14 60 405 45 ENST00000509479.2 0.176471 0.292001 USP38 84640 __UNKNOWN__ __UNKNOWN__ 4 144125592 144125592 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:144125592A>G ENST00000307017.4 + 5 1715 USP38_ENST00000510377.1_Intron NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) gcccaggctgaagtgcaatgg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF211481 CCDS3758.1 4q31.1 2008-02-05 2005-08-08 ENSG00000170185 ENSG00000170185 84640 Ubiquitin-specific peptidases 20067 protein-coding gene gene with protein product ubiquitin specific protease 38 NA 12838346 Standard NM_032557 NM_032557 NA Approved KIAA1891, HP43.8KD uc003ijb.3 Q8NB14 OTTHUMG00000161420 ENST00000307017.4:c.1209+873A>G chr4.hg19:g.144125592A>G NA B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55 hg19 CCDS3758.1 0.02 3.336357 CTGxAGT COVERED NOVEL USP38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364869.1 6 13.066013 KEEP 2 1 33 55 1569 AA 1 0.999999 0 + 7 60 212 1 0 13.38864 98 70 2563 244 ENST00000307017.4 0.066667 0.999999 RP11-752L20.5 0 __UNKNOWN__ __UNKNOWN__ 4 148501259 148501259 __UNKNOWN__ lincRNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:148501259C>T ENST00000509370.1 + 0 705 NA NA NA aggctgggcacggtggctcac 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000509370.1: chr4.hg19:g.148501259C>T NA hg19 0.02 -0.421058 GCAxGGT COVERED NOVEL RP11-752L20.5-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000364648.1 9 3.309937 KEEP 3 0 0 11 374 CC 0.993072 0.941832 0 + 4 60 121 0 0 8.111113 42 60 1398 100 ENST00000509370.1 0.086957 0.948402 TMEM184C 55751 __UNKNOWN__ __UNKNOWN__ 4 148555908 148555908 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:148555908T>C ENST00000296582.3 + 0 2214 TMEM184C_ENST00000508208.1_Intron NM_018241.2 NP_060711.2 Q9NVA4 T184C_HUMAN transmembrane protein 184C NA NA integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 gacagagtcttgctctgtcac 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF305823 CCDS3770.1 4q31.22 2008-06-05 2008-06-05 2008-06-05 ENSG00000164168 55751 25587 protein-coding gene gene with protein product 613937 transmembrane protein 34 TMEM34 NA Standard NM_018241 NM_018241 NA Approved FLJ10846 uc003ila.4 Q9NVA4 ENST00000296582.3:c.*323T>C chr4.hg19:g.148555908T>C NA D3DP04|Q86X84|Q969I7|Q9NXM2 hg19 CCDS3770.1 0.02 1.953287 TCTxGCT COVERED NOVEL TMEM184C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364644.1 12 9.648139 KEEP 2 1 34 44 1352 TT 1 0.989542 0 + 4 60 135 0 0 9.219233 50 60 1464 136 ENST00000296582.3 0.074074 0.989542 LRBA 987 __UNKNOWN__ __UNKNOWN__ 4 151606856 151606856 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:151606856C>G ENST00000510413.1 - 37 6039 LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron NM_001199282.2 NP_001186211.2 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing NA NA cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) aaaagtgctgcgattacaggc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF216648 CCDS3773.1, CCDS58928.1 4q13 2013-01-10 2001-10-05 ENSG00000198589 ENSG00000198589 987 WD repeat domain containing 1742 protein-coding gene gene with protein product 606453 CDC4L NA 1505956, 11254716 Standard NM_006726 NA Approved BGL, LAB300, LBA uc010ipj.3 P50851 OTTHUMG00000161443 ENST00000510413.1:c.5755-1987G>C chr4.hg19:g.151606856C>G NA Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4 hg19 CCDS58928.1 0.02 -0.22808 CTGxGAT COVERED NOVEL LRBA-001 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000364938.1 4 2.70808 KEEP 0 0 0 9 308 CC 0.99254 0.578582 0 - 3 60 97 0 0 7.149104 22 60 734 50 ENST00000510413.1 0.12 0.58293 LRBA 987 __UNKNOWN__ __UNKNOWN__ 4 151911794 151911794 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:151911794T>A ENST00000510413.1 - 2 501 LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron NM_001199282.2 NP_001186211.2 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing NA NA cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) aggctgaggttggaggatcac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF216648 CCDS3773.1, CCDS58928.1 4q13 2013-01-10 2001-10-05 ENSG00000198589 ENSG00000198589 987 WD repeat domain containing 1742 protein-coding gene gene with protein product 606453 CDC4L NA 1505956, 11254716 Standard NM_006726 NA Approved BGL, LAB300, LBA uc010ipj.3 P50851 OTTHUMG00000161443 ENST00000510413.1:c.216+23784A>T chr4.hg19:g.151911794T>A NA Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4 hg19 CCDS58928.1 0.02 -0.359059 GGTxGGA COVERED NOVEL LRBA-001 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000364938.1 9 5.114318 KEEP 0 0 0 17 499 TT 0.999859 0.899187 0 - 4 60 125 0 0 8.722405 37 60 955 74 ENST00000510413.1 0.097561 0.899314 PET112 0 __UNKNOWN__ __UNKNOWN__ 4 152678886 152678886 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:152678886T>C ENST00000515812.1 - 2 344 PET112_ENST00000263985.6_Intron|PET112_ENST00000512306.1_Intron|PET112_ENST00000508611.1_Intron NA NA breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 accttggccttccaaagtgct 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000515812.1:c.327+1037A>G chr4.hg19:g.152678886T>C NA hg19 0.02 -0.2894 CCTxCCA UNCOVERED NOVEL PET112-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000365672.1 7 2.406996 KEEP 1 0 0 8 245 TT 0 0 0 - 3 40 95 0 0 6.568959 30 60 887 67 ENST00000515812.1 0.090909 0.760887 RP11-18H21.3 0 __UNKNOWN__ __UNKNOWN__ 4 153137373 153137373 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:153137373T>C ENST00000504957.1 - 0 247 NA NA p.?(1) NA tgtatcccagtactttggaag 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Unknown(1) haematopoietic_and_lymphoid_tissue(1) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000504957.1: chr4.hg19:g.153137373T>C NA hg19 0.02 -0.263032 CAGxACT COVERED NOVEL RP11-18H21.3-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000365873.1 5 3.309976 KEEP 0 0 0 11 340 TT 0.993072 0.688863 0 - 3 60 105 0 0 7.842667 24 60 672 64 ENST00000504957.1 0.111111 0.693668 KIAA0922 23240 __UNKNOWN__ __UNKNOWN__ 4 154394869 154394869 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:154394869A>G ENST00000409959.3 + 3 244 KIAA0922_ENST00000409663.3_Intron|KIAA0922_ENST00000440693.1_Intron NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 NA NA integral component of membrane (GO:0016021) breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) gcttgaacccaggaggcggag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK096538 CCDS3783.2, CCDS47148.1 4q31.3 2008-02-05 ENSG00000121210 ENSG00000121210 23240 29146 protein-coding gene gene with protein product NA 10231032, 11230166 Standard NM_015196 NM_015196 NA Approved DKFZp586H1322, TMEM131L uc010ipp.3 A2VDJ0 OTTHUMG00000153244 ENST00000409959.3:c.196-128A>G chr4.hg19:g.154394869A>G NA B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7 hg19 CCDS47148.1 0.02 -0.324502 CCCxGGA COVERED NOVEL KIAA0922-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000330369.1 2 6.152625 KEEP 0 1 33 32 999 AA 0.999998 0.835714 0 + 4 60 109 0 0 7.415092 31 60 935 72 ENST00000409959.3 0.114286 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 156935016 156935016 __UNKNOWN__ IGR SNP C C T rs370586716 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:156935016C>T NA NA CTSO (59947 upstream) : AC108211.1 (282696 downstream) NA NA NA gcaacaagagcgaaactccat 0.463 NA C||| 25 0.00499201 0.0091 0.0014 5008 , , NA 13969 0.001 NA 0.002 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.156935016C>T NA hg19 0.02 -0.183167 GAGxGAA COVERED NOVEL 0 7 2.407714 KEEP 4 0 0 8 275 CC 0.99257 0.420331 0 5 60 128 1 0 11.421397 8 60 258 44 0.384615 0.423478 ETFDH 2110 __UNKNOWN__ __UNKNOWN__ 4 159630581 159630581 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:159630581A>G ENST00000511912.1 + 0 3088 PPID_ENST00000307720.3_3'UTR NM_001281738.1|NM_004453.2 NP_001268667.1|NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase NA NA cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281) integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966) 4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) ctacttgggaagctgaggcag 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant S69232 CCDS3800.1, CCDS64090.1 4q32-q35 2008-08-26 ENSG00000171503 ENSG00000171503 2110 3483 protein-coding gene gene with protein product 231675 NA Standard NM_004453 NA Approved ETFQO uc003iqb.3 Q16134 OTTHUMG00000161684 ENST00000511912.1:c.*902A>G chr4.hg19:g.159630581A>G NA B4E3R9|J3KND9|Q7Z347 hg19 CCDS3800.1 0.02 -0.350809 GGAxGCT COVERED NOVEL ETFDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365718.2 0 5.386513 KEEP 0 2 69 42 1345 AA 1 0.877708 0 + 4 60 128 0 0 9.2083 33 60 980 86 ENST00000511912.1 0.108108 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 160316335 160316335 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:160316335C>T NA NA RAPGEF2 (35014 upstream) : RP11-138A23.2 (3349 downstream) NA NA NA cccagcacttcgggaggccga 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.160316335C>T NA hg19 0.02 -0.140338 CTTxGGG COVERED NOVEL 0 2 3.009536 KEEP 0 0 0 10 342 CC 0.992708 0.259062 0 3 60 88 0 0 7.072922 11 60 354 38 0.214286 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 165785552 165785552 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:165785552A>G NA NA RP11-294O2.2 (60605 upstream) : RP11-366M4.3 (12603 downstream) NA NA NA aggaagaggaagaagaagaag 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.165785552A>G NA hg19 0.02 -0.052617 GGAxGAA UNCOVERED NOVEL 0 4 2.405959 KEEP 1 0 0 8 238 AA 0 0 0 2 60 63 0 0 6.424704 1 60 29 21 0.666667 0.036766 PALLD 23022 __UNKNOWN__ __UNKNOWN__ 4 169838078 169838078 __UNKNOWN__ Intron SNP C C T rs199714337 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:169838078C>T ENST00000505667.1 + 17 3023 PALLD_ENST00000335742.7_Intron|PALLD_ENST00000507735.1_Intron|PALLD_ENST00000512127.1_Intron|PALLD_ENST00000261509.6_Intron|CBR4_ENST00000509108.1_Intron Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein NA NA cytoskeleton organization (GO:0007010) actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634) muscle alpha-actinin binding (GO:0051371) breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) cctcagcctcccaaagtgctg 0.478 NA Pancreatic Cancer, Familial Clustering of NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(109;1482 1532 18347 40239 51172) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1 AB023209 CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1 4q32.3 2013-01-11 ENSG00000129116 ENSG00000129116 23022 Immunoglobulin superfamily / I-set domain containing 17068 protein-coding gene gene with protein product 608092 NA 10231032, 10931874 Standard NM_016081 NM_001166108 NA Approved KIAA0992, SIH002, CGI-151 uc011cjx.2 Q8WX93 OTTHUMG00000161097 ENST00000505667.1:c.2850+900C>T chr4.hg19:g.169838078C>T NA B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9 hg19 CCDS54818.1 0.02 -0.131575 CTCxCAA COVERED NOVEL PALLD-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000363762.1 9 2.708816 KEEP 3 0 0 9 317 CC 0.99257 0.22747 0 + 4 46 123 1 0 10.891133 8 60 261 35 ENST00000505667.1 0.333333 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 170692163 170692163 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:170692163A>G NA NA C4orf27 (13059 upstream) : AC106878.1 (14181 downstream) NA NA NA ccgagattgcaccactgcact 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.170692163A>G NA hg19 0.02 -0.26301 TGCxCCA COVERED NOVEL 0 3 4.813147 KEEP 0 0 0 16 464 AA 0.997832 0.692164 0 3 60 102 1 0 7.492955 25 60 708 57 0.107143 0.693668 AADAT 51166 __UNKNOWN__ __UNKNOWN__ 4 170982041 170982041 __UNKNOWN__ 3'UTR SNP T T C rs369301970 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:170982041T>C ENST00000337664.4 - 0 1592 AADAT_ENST00000509167.1_3'UTR|AADAT_ENST00000515480.1_3'UTR|AADAT_ENST00000353187.2_3'UTR NM_016228.3 NP_057312.1 Q8N5Z0 AADAT_HUMAN aminoadipate aminotransferase NA NA 2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441) mitochondrial matrix (GO:0005759) 2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1) 11 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) gctgggattataggtgtgagc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 T , 0,2654 0,0,1327 45 49 48 NA , -2.2 0 4 48 2,4616 0,2,2307 no utr-3,utr-3 AADAT NM_016228.3,NM_182662.1 , 0,2,3634 CC,CT,TT NA 0.0433,0.0,0.0275 , , 170982041 2,7270 1327 2309 3636 SO:0001624 3_prime_UTR_variant AF097994 CCDS3814.1, CCDS75209.1 4q33 2010-12-09 ENSG00000109576 ENSG00000109576 51166 2.6.1.39 17929 protein-coding gene gene with protein product kynurenine aminotransferase II, L kynurenine/alpha aminoadipate aminotransferase 611754 NA 12126930, 10441733 Standard NM_016228 NM_182662 NA Approved KATII, KAT2 uc003isr.3 Q8N5Z0 OTTHUMG00000160912 ENST00000337664.4:c.*38A>G chr4.hg19:g.170982041T>C NA B3KP84|Q9UL02 hg19 CCDS3814.1 0.02 -0.394557 TTAxAGG COVERED NOVEL AADAT-004 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000362952.1 11 7.452014 KEEP 0 1 35 37 1087 TT 1 0.92664 0 - 3 60 102 0 0 6.940485 39 60 1062 95 ENST00000337664.4 0.071429 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 175304800 175304800 __UNKNOWN__ IGR SNP C C T rs200349678 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:175304800C>T NA NA RP11-51M24.1 (7204 upstream) : MIR4276 (40145 downstream) NA NA NA caatactgctctttaaggcat 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.175304800C>T NA hg19 0.02 -0.289494 GCTxTTT COVERED NOVEL 0 1 3.611553 KEEP 3 0 0 12 429 CC 0.993072 0.755616 0 5 47 155 0 0 12.453432 20 53 692 75 0.2 0.760887 RP11-487E13.1 0 __UNKNOWN__ __UNKNOWN__ 4 178169345 178169345 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:178169345C>T ENST00000512516.1 - 2 163 NA NA NA gagacggggtctcaccatgtt 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000512516.1:c.83+4G>A chr4.hg19:g.178169345C>T NA hg19 0.02 -0.438481 GGTxTCA COVERED NOVEL RP11-487E13.1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000361913.1 2 13.042937 KEEP 0 1 30 54 1775 CC 1 0.959859 0 - 5 60 131 0 0 8.580162 42 60 1298 105 ENST00000512516.1 0.106383 0.959859 RP11-487E13.1 0 __UNKNOWN__ __UNKNOWN__ 4 178169405 178169405 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:178169405T>C ENST00000512516.1 - 2 107 c.28A>G c.(28-30)Act>Gct p.T10A NA NA NA cctgcctcagtctcccaaagg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000512516.1:c.28A>G chr4.hg19:g.178169405T>C ENSP00000423696:p.Thr10Ala NA hg19 0.02 3.830073 CAGxCTC COVERED . . . . . . . . . . T 0.063 -1.219600 0.01542 . . ENSG00000249008 ENST00000512516 . . . 0.537 -1.07 0.09968 . . . . . T 0.10723 0.0262 . . . . . . . . . . . . T 0.31530 -0.9940 3 0.02654 T 1 . . . . . . . . A 10 . ENSP00000423696:T10A T - 1 0 RP11-487E13.1 178406399 0.072000 0.21174 0.026000 0.17262 0.042000 0.13812 -0.643000 0.05421 -1.062000 0.03181 -0.726000 0.03593 ACT NOVEL RP11-487E13.1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000361913.1 11 29.115398 KEEP 0 1 38 110 3322 TT 1 0.999992 0 - 5 60 172 0 0 10.992244 94 60 2710 286 ENST00000512516.1 0.050505 0.999992 RP11-487E13.1 0 __UNKNOWN__ __UNKNOWN__ 4 178169425 178169425 __UNKNOWN__ Missense_Mutation SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:178169425A>T ENST00000512516.1 - 2 87 c.8T>A c.(7-9)gTa>gAa p.V3E NA NA NA ggctgggattacaggcatgcg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000512516.1:c.8T>A chr4.hg19:g.178169425A>T ENSP00000423696:p.Val3Glu NA hg19 0.02 3.20995 ATTxCAG COVERED . . . . . . . . . . A 6.124 0.391066 0.11581 . . ENSG00000249008 ENST00000512516 . . . 0.235 0.235 0.15431 . . . . . T 0.54515 0.1863 . . . . . . . . . . . . T 0.63839 -0.6546 3 0.87932 D 0 . . . . . . . . E 3 . ENSP00000423696:V3E V - 2 0 RP11-487E13.1 178406419 0.033000 0.19621 0.110000 0.21437 0.068000 0.16541 0.349000 0.20055 0.263000 0.21812 0.260000 0.18958 GTA NOVEL RP11-487E13.1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000361913.1 20 38.51297 KEEP 0 0 0 128 3906 AA 1 0.999999 0 - 62 60 1840 0 0 181.204046 47 60 1345 341 ENST00000512516.1 0.568807 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 181073570 181073570 __UNKNOWN__ IGR SNP C C T rs112820150 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:181073570C>T NA NA RP11-404J23.1 (687111 upstream) : RP11-460H9.1 (578746 downstream) NA NA NA atcatgccaccgcactccagc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.181073570C>T NA hg19 0.02 -0.131575 CACxGCA COVERED NOVEL 0 1 3.310688 KEEP 0 0 0 11 386 CC 0.993072 0.227586 0 3 60 91 0 0 7.372784 11 60 366 29 0.214286 0.229173 FAT1 2195 __UNKNOWN__ __UNKNOWN__ 4 187627792 187627792 __UNKNOWN__ Missense_Mutation SNP T T C rs11939575 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:187627792T>C ENST00000441802.2 - 2 3399 c.3190A>G c.(3190-3192)Aga>Gga p.R1064G NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1064 Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA R -> G (in Ref. 1; CAA60685). {ECO:0000305}. actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CCATCTCTTCTGGCGTCCTCA 0.463 NA HNSCC(5;0.00058) C||| 3735 0.745807 0.907 0.7176 5008 , , NA 19468 0.5 NA 0.7803 False NA ,,, NA NA NA 2504 0.7658 NA NA NA Colon(197;1040 2055 4143 4984 49344) NA 0 C GLY/ARG 3558,426 1588,382,22 145 145 145 NA 3190 4.6 0.6 4 dbSNP_120 145 6640,1704 2625,1390,157 yes missense FAT1 NM_005245.3 125 4213,1772,179 CC,CT,TT NA 20.4219,10.6928,17.2777 benign 1064/4589 187627792 10198,2130 1992 4172 6164 SO:0001583 missense X87241 CCDS47177.1 4q35.2 2013-05-31 2013-05-31 2008-10-30 ENSG00000083857 ENSG00000083857 2195 Cadherins / Cadherin-related 3595 protein-coding gene gene with protein product cadherin-related family member 8 600976 FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila) FAT NA 8586420 Standard NM_005245 XM_005262834 NA Approved CDHF7, CDHR8 uc003izf.3 Q14517 OTTHUMG00000160320 ENST00000441802.2:c.3190A>G chr4.hg19:g.187627792T>C ENSP00000406229:p.Arg1064Gly NA hg19 CCDS47177.1 0.02 1.335948 TTCxGGC COVERED 1585 0.7257326007326007 437 0.8882113821138211 277 0.7651933701657458 284 0.4965034965034965 587 0.7744063324538258 C 3.914 -0.019446 0.07634 0.893072 0.795781 ENSG00000083857 ENST00000441802;ENST00000260147 T 0.55052 0.54 4.6 4.6 0.57074 Cadherin (4);Cadherin-like (1); 0.058040 0.64402 N 0.000002 T 0.00012 0.0000 N 0.00012 -2.95 0.43485 P 0.004290000000000016 B 0.02656 0.0 B 0.01281 0.0 T 0.42137 -0.9469 9 0.02654 T 1 . 12.9907 0.58616 0.0:0.9214:0.0:0.0785 rs11939575;rs52815087;rs59337068;rs11939575 1064 Q14517 FAT1_HUMAN G 1064 ENSP00000406229:R1064G ENSP00000260147:R1064G R - 1 2 FAT1 187864786 1.000000 0.71417 0.635000 0.29338 0.558000 0.35554 5.937000 0.70162 1.172000 0.42781 -0.186000 0.12905 AGA NOVEL FAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360209.3 3 25.27586 KEEP 0 0 0 84 2648 TT 1 0.999678 0 - 4 60 129 0 0 7.831215 80 60 2419 234 ENST00000441802.2 0.047619 0.999678 TRIML2 205860 __UNKNOWN__ __UNKNOWN__ 4 189020441 189020441 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:189020441T>C ENST00000512729.1 - 4 705 TRIML2_ENST00000326754.3_Intron|TRIML2_ENST00000536972.1_Intron NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 NA NA protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526) ligase activity (GO:0016874) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGCTTTTCggttgggcgcagt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098667 CCDS3850.1 4q35.2 2014-02-12 2007-12-14 ENSG00000179046 ENSG00000179046 205860 26378 protein-coding gene gene with protein product SPRY domain containing 6 NA Standard NM_173553 NM_173553 NA Approved FLJ25801, SPRYD6 uc003izl.2 Q8N7C3 OTTHUMG00000160225 ENST00000512729.1:c.331-112A>G chr4.hg19:g.189020441T>C NA B7Z6J6 hg19 CCDS3850.1 0.02 -0.157835 CGGxTGG COVERED NOVEL TRIML2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000359733.1 3 3.911865 KEEP 0 0 0 13 409 TT 0.994391 0.320996 0 - 3 60 100 0 0 7.910491 15 60 427 35 ENST00000512729.1 0.166667 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 189071506 189071506 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:189071506T>C NA NA TRIML1 (2609 upstream) : RP11-366H4.1 (9712 downstream) NA NA NA tggtcttgaattcctgacctc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.189071506T>C NA hg19 0.02 -0.061398 GAAxTCC UNCOVERED NOVEL 0 4 2.707488 KEEP 1 0 0 9 267 TT 0.99254 0.04346 0 2 40 71 0 0 6.593129 3 60 85 25 0.4 0.043787 AF146191.4 0 __UNKNOWN__ __UNKNOWN__ 4 190837735 190837735 __UNKNOWN__ lincRNA SNP G G C rs79615477 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190837735G>C ENST00000511785.1 - 0 231 NA NA NA aaggccaggggtttgagacca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000511785.1: chr4.hg19:g.190837735G>C NA hg19 0.02 -0.377209 GGGxTTT COVERED NOVEL AF146191.4-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000361301.1 15 3.310941 KEEP 3 0 0 11 400 GG 0.993072 0.902771 0 - 5 60 170 0 0 13.767806 22 60 742 88 ENST00000511785.1 0.185185 0.909069 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190864371 190864371 __UNKNOWN__ Missense_Mutation SNP G G A rs73024915 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190864371G>A ENST00000226798.4 + 2 299 c.77G>A c.(76-78)aGc>aAc p.S26N FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 26 Lys-rich. NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) p.S26N(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) aagaaaaagagcaaagataag 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) prostate(1)|skin(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.77G>A chr4.hg19:g.190864371G>A ENSP00000226798:p.Ser26Asn NA A8K775 hg19 CCDS34121.1 0.02 -0.315798 AGAxCAA COVERED . . . . . . . . . . . 5.911 0.352154 0.11182 . . ENSG00000109536 ENST00000226798 T 0.30981 1.51 2.98 -0.729 0.11158 . 0.834923 0.11196 N 0.589355 T 0.08179 0.0204 N 0.00801 -1.175 0.25207 N 0.990005 B 0.02656 0.0 B 0.01281 0.0 T 0.36335 -0.9752 10 0.20519 T 0.43 . 6.0072 0.19553 0.541:0.0:0.459:0.0 . 26 Q14331 FRG1_HUMAN N 26 ENSP00000226798:S26N ENSP00000226798:S26N S + 2 0 FRG1 191101365 0.695000 0.27747 0.993000 0.49108 0.866000 0.49608 -0.468000 0.06656 -0.220000 0.09988 0.549000 0.68633 AGC NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 2 12.908771 KEEP 3 2 66 66 2286 GG 1 0.818465 0 + 6 60 186 0 0 14.500556 29 60 982 149 ENST00000226798.4 0.171429 0.818465 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190869878 190869878 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190869878C>T ENST00000226798.4 + 3 355 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) caggctcttgctttgttgctc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.134-3439C>T chr4.hg19:g.190869878C>T NA A8K775 hg19 CCDS34121.1 0.02 -0.175392 TTGxTTT COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 10 3.310934 KEEP 2 0 0 11 404 CC 0.993072 0.384723 0 + 5 27 133 0 0 12.670799 5 60 170 48 ENST00000226798.4 0.5 0.387407 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190876269 190876269 __UNKNOWN__ Missense_Mutation SNP T T C rs149113074 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190876269T>C ENST00000226798.4 + 5 617 c.395T>C c.(394-396)aTt>aCt p.I132T FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 132 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) p.I132T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TCAGATGCAATTGGACCAAGA 0.358 NA .||| 2 0.000399361 8e-04 0.0014 5008 , , NA 20498 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 1 Substitution - Missense(1) skin(1) 91 91 91 NA NA NA 4 NA NA 190876269 2203 4300 6503 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.395T>C chr4.hg19:g.190876269T>C ENSP00000226798:p.Ile132Thr NA A8K775 hg19 CCDS34121.1 0.02 13.903385 CAAxTGG COVERED . . . . . . . . . . . 18.71 3.681993 0.68042 . . ENSG00000109536 ENST00000226798;ENST00000531991 T;T 0.50277 1.91;0.75 4.04 4.04 0.47022 Actin cross-linking (1); 0.133249 0.64402 N 0.000004 T 0.58337 0.2115 M 0.85542 2.76 0.80722 D 1 B 0.26809 0.16 B 0.38683 0.279 T 0.63769 -0.6562 10 0.62326 D 0.03 2.1537 11.3071 0.49342 0.0:0.0:0.0:1.0 . 132 Q14331 FRG1_HUMAN T 132;69 ENSP00000226798:I132T;ENSP00000435943:I69T ENSP00000226798:I132T I + 2 0 FRG1 191113263 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 7.497000 0.81536 1.599000 0.50093 0.462000 0.41574 ATT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 18 17.021407 KEEP 5 13 478 223 7362 TT 1 1 0 + 17 60 604 0 0 42.739201 197 60 6001 962 ENST00000226798.4 0.079439 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878413 190878413 __UNKNOWN__ Intron SNP G G A rs201770204 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190878413G>A ENST00000226798.4 + 6 654 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) atatgttcttgtattatattt 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.433-140G>A chr4.hg19:g.190878413G>A NA A8K775 hg19 CCDS34121.1 0.02 -0.140316 CTTxTAT COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 2 5.417582 KEEP 1 0 0 18 628 GG 0.999859 0.260928 0 + 4 47 105 0 0 8.770548 10 60 328 35 ENST00000226798.4 0.285714 0.260965 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878577 190878577 __UNKNOWN__ Missense_Mutation SNP A A G rs200267221 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190878577A>G ENST00000226798.4 + 6 679 c.457A>G c.(457-459)Aat>Gat p.N153D FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 153 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GTTGGCCTCAAATAGCTGCTT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 14 18 17 NA NA NA 4 NA NA 190878577 2154 4261 6415 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.457A>G chr4.hg19:g.190878577A>G ENSP00000226798:p.Asn153Asp NA A8K775 hg19 CCDS34121.1 0.02 7.230074 TCAxATA COVERED . . . . . . . . . . . 16.34 3.096595 0.56075 . . ENSG00000109536 ENST00000226798;ENST00000524583;ENST00000531991 T;T 0.50548 1.75;0.74 4.19 2.99 0.34606 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.62950 0.2470 M 0.88105 2.93 0.58432 D 0.999994 P 0.35033 0.481 P 0.49085 0.6 T 0.60182 -0.7313 10 0.38643 T 0.18 -7.9248 8.2154 0.31507 0.9006:0.0:0.0994:0.0 . 153 Q14331 FRG1_HUMAN D 153;25;90 ENSP00000226798:N153D;ENSP00000435943:N90D ENSP00000226798:N153D N + 1 0 FRG1 191115571 1.000000 0.71417 1.000000 0.80357 0.430000 0.31655 9.035000 0.93752 0.593000 0.29745 -0.580000 0.04137 AAT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 22 17.481391 KEEP 65 13 464 220 6930 AA 1 1 0 + 8 40 273 0 0 16.914472 172 55 4994 596 ENST00000226798.4 0.044444 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878589 190878589 __UNKNOWN__ Missense_Mutation SNP A A G rs561930100 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190878589A>G ENST00000226798.4 + 6 691 c.469A>G c.(469-471)Att>Gtt p.I157V FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 157 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TAGCTGCTTTATTAGATGCAA 0.363 NA .||| 11 0.00219649 0.0015 0.0058 5008 , , NA 28209 0.001 NA 0.004 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 15 18 17 NA NA NA 4 NA NA 190878589 2157 4266 6423 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.469A>G chr4.hg19:g.190878589A>G ENSP00000226798:p.Ile157Val NA A8K775 hg19 CCDS34121.1 0.02 9.211475 TTTxTTA COVERED . . . . . . . . . . . 10.14 1.269261 0.23221 . . ENSG00000109536 ENST00000226798;ENST00000524583;ENST00000531991 T;T 0.42900 2.02;0.96 4.19 4.19 0.49359 Actin cross-linking (1); 0.049103 0.85682 D 0.000000 T 0.25938 0.0632 L 0.28014 0.82 0.48696 D 0.999699 B 0.09022 0.002 B 0.18871 0.023 T 0.08086 -1.0739 10 0.20519 T 0.43 -23.3336 6.6273 0.22837 0.8897:0.0:0.1103:0.0 . 157 Q14331 FRG1_HUMAN V 157;29;94 ENSP00000226798:I157V;ENSP00000435943:I94V ENSP00000226798:I157V I + 1 0 FRG1 191115583 1.000000 0.71417 1.000000 0.80357 0.727000 0.41649 5.196000 0.65136 1.677000 0.50941 0.373000 0.22412 ATT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 26 44.205366 KEEP 63 9 312 256 7784 AA 1 1 0 + 11 48 372 0 0 23.2 223 60 6167 744 ENST00000226798.4 0.047009 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878628 190878628 __UNKNOWN__ Missense_Mutation SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190878628A>C ENST00000226798.4 + 6 730 c.508A>C c.(508-510)Aaa>Caa p.K170Q FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 170 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGCAAAAAGTAAAACAGCAGG 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 49 46 47 NA NA NA 4 NA NA 190878628 2181 4281 6462 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.508A>C chr4.hg19:g.190878628A>C ENSP00000226798:p.Lys170Gln NA A8K775 hg19 CCDS34121.1 0.02 14.293717 AGTxAAA COVERED . . . . . . . . . . . 16.38 3.105931 0.56291 . . ENSG00000109536 ENST00000226798;ENST00000524583;ENST00000531991 T;T 0.47528 1.91;0.84 4.19 4.19 0.49359 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.56790 0.2009 M 0.79693 2.465 0.58432 D 0.999997 P 0.38195 0.622 P 0.45681 0.49 T 0.59257 -0.7488 10 0.39692 T 0.17 -9.7244 11.5749 0.50856 1.0:0.0:0.0:0.0 . 170 Q14331 FRG1_HUMAN Q 170;42;107 ENSP00000226798:K170Q;ENSP00000435943:K107Q ENSP00000226798:K170Q K + 1 0 FRG1 191115622 1.000000 0.71417 1.000000 0.80357 0.834000 0.47266 7.044000 0.76578 1.677000 0.50941 0.373000 0.22412 AAA NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 42 74.791112 KEEP 55 8 294 351 10579 AA 1 1 0 + 14 60 460 0 0 26.54717 374 60 10448 1363 ENST00000226798.4 0.036082 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878693 190878693 __UNKNOWN__ Intron SNP C C A rs376321648 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190878693C>A ENST00000226798.4 + 6 759 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ACTGCATTCACACATGCGATG 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 17 14 15 NA NA NA 4 NA NA 190878693 2115 4182 6297 SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.537+36C>A chr4.hg19:g.190878693C>A NA A8K775 hg19 CCDS34121.1 0.02 7.263863 TCAxACA COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 18 61.898331 KEEP 18 6 186 271 9603 CC 1 1 0 + 13 60 345 0 0 17.332889 300 60 10211 851 ENST00000226798.4 0.041534 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190881063 190881063 __UNKNOWN__ Intron SNP T T C rs112420871 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190881063T>C ENST00000226798.4 + 7 759 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGAACACAGATCCCTCTTACT 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.538-840T>C chr4.hg19:g.190881063T>C NA A8K775 hg19 CCDS34121.1 0.02 5.965074 AGAxCCC COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 10 12.440666 KEEP 7 4 139 90 2794 TT 1 1 0 + 7 60 238 2 0 15.238417 126 60 3703 382 ENST00000226798.4 0.052632 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190893873 190893873 __UNKNOWN__ IGR SNP A A T rs62346965 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190893873A>T NA NA FRG1 (9514 upstream) : RNA5SP174 (42419 downstream) NA NA NA ctgtggtactagctacttggg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.190893873A>T NA hg19 0.02 -0.42946 ACTxGCT COVERED NOVEL 0 15 3.8893 KEEP 4 0 0 13 367 AA 0.994391 0.949137 0 5 60 130 2 0 9.161039 30 60 810 72 0.142857 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190894900 190894900 __UNKNOWN__ IGR SNP G G A rs201618004 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190894900G>A NA NA FRG1 (10541 upstream) : RNA5SP174 (41392 downstream) NA NA NA CTAGAGGTGTGTGCAGAGACT 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.190894900G>A NA hg19 0.02 1.383492 TGTxTGC COVERED NOVEL 0 3 2.442059 KEEP 1 1 28 18 640 GG 0.99986 0.984023 0 5 60 135 0 0 9.077126 40 60 1343 120 0.111111 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190896524 190896524 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190896524G>T NA NA FRG1 (12165 upstream) : RNA5SP174 (39768 downstream) NA NA NA ctgagatcgagccactgtact 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.190896524G>T NA hg19 0.02 4.928999 CGAxCCA COVERED NOVEL 0 78 3.281965 KEEP 6 2 66 34 1251 GG 0.999999 0.999999 0 7 60 205 0 0 14.683401 49 60 1695 287 0.125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190896543 190896543 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190896543G>A NA NA FRG1 (12184 upstream) : RNA5SP174 (39749 downstream) NA NA NA ctccagcctgggtgacagagc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.190896543G>A NA hg19 0.02 3.025651 CTGxGTG COVERED NOVEL 0 69 3.360624 KEEP 7 2 62 33 1158 GG 0.999998 0.999998 0 8 60 220 0 0 15.817459 49 60 1647 261 0.140351 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190943915 190943915 __UNKNOWN__ IGR SNP G G A rs201713776 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190943915G>A NA NA RNA5SP175 (4946 upstream) : FRG2 (1590 downstream) NA NA NA cactgcggcaggtgcagccag 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.190943915G>A NA hg19 0.02 1.09398 GCAxGTG COVERED NOVEL 0 15 6.620685 KEEP 33 0 0 22 729 CG 0.999863 0.999793 0 4 60 112 0 0 9.330762 11 60 354 203 0.266667 0.99993 FRG2 448831 __UNKNOWN__ __UNKNOWN__ 4 190945989 190945989 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:190945989T>C ENST00000378763.1 - 0 1616 FRG2_ENST00000504750.1_3'UTR NM_001005217.1|NM_001199232.1 NP_001005217.1|NP_001186161.1 Q64ET8 FRG2_HUMAN FSHD region gene 2 NA NA nucleus (GO:0005634) large_intestine(1)|lung(3)|ovary(2)|skin(1) 7 all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513) all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155) TGGATATTAGTACTCCATGGG 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34123.1, CCDS68834.1 4q35.2 2014-09-04 ENSG00000205097 ENSG00000205097 448831 19136 protein-coding gene gene with protein product 609032 NA 12176321, 15520407 Standard NM_001005217 NM_001005217 NA Approved FRG2A Q64ET8 OTTHUMG00000160339 ENST00000378763.1:c.*727A>G chr4.hg19:g.190945989T>C NA B7ZMJ1|E7EN36 hg19 CCDS34123.1 0.02 3.959185 TAGxACT COVERED NOVEL FRG2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000360294.1 39 2.520324 KEEP 123 9 332 124 3712 TT 1 0.999997 0 - 9 21 309 0 0 22.270772 86 60 2465 476 ENST00000378763.1 0.094737 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 191039889 191039889 __UNKNOWN__ IGR SNP G G C rs371043781 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr4:191039889G>C NA NA DUX4L2 (26170 upstream) : None (None downstream) NA NA NA ctcccaaagtgctgggattac 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.191039889G>C NA hg19 0.02 -0.280732 AGTxCTG COVERED NOVEL 0 9 3.913016 KEEP 1 0 0 13 484 GG 0.994391 0.735522 0 4 49 133 0 0 10.156815 25 51 876 69 0.137931 0.739671 SDHA 6389 __UNKNOWN__ __UNKNOWN__ 5 236556 236556 __UNKNOWN__ Missense_Mutation SNP T T G rs200047573 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:236556T>G ENST00000264932.6 + 10 1389 c.1274T>G c.(1273-1275)gTg>gGg p.V425G SDHA_ENST00000510361.1_Missense_Mutation_p.V377G|SDHA_ENST00000504309.1_Missense_Mutation_p.V425G NM_004168.2 NP_004159.2 P31040 SDHA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 425 NA cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739) flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CTGAGGCACGTGAATGGCCAG 0.612 NA Familial Paragangliomas NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 47 44 45 NA NA NA 5 NA NA 236556 2203 4296 6499 SO:0001583 missense Familial Cancer Database Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss BC001380 CCDS3853.1 5p15 2014-09-17 ENSG00000073578 ENSG00000073578 6389 Mitochondrial respiratory chain complex / Complex II 10680 protein-coding gene gene with protein product 600857 SDH2 NA 7798181 Standard NM_004168 XM_005248329 NA Approved FP, SDHF uc003jao.4 P31040 OTTHUMG00000090275 ENST00000264932.6:c.1274T>G chr5.hg19:g.236556T>G ENSP00000264932:p.Val425Gly NA A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5 hg19 CCDS3853.1 0.02 1.555784 ACGxGAA COVERED . . . . . . . . . . t 8.063 0.768504 0.15983 . . ENSG00000073578 ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361 T;T;T 0.70164 -0.46;-0.46;-0.46 4.9 4.9 0.64082 Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1); 0.534811 0.18114 U 0.151271 T 0.35128 0.0921 N 0.00996 -1.065 0.52099 D 0.999946 B;B;B;B;B 0.15473 0.001;0.0;0.013;0.003;0.001 B;B;B;B;B 0.15870 0.008;0.006;0.014;0.014;0.004 T 0.28138 -1.0053 10 0.19590 T 0.45 . 11.1827 0.48638 0.0:0.0:0.0:1.0 . 377;425;19;425;425 E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040 .;.;.;.;DHSA_HUMAN G 425;280;425;377 ENSP00000264932:V425G;ENSP00000426514:V425G;ENSP00000427703:V377G ENSP00000264932:V425G V + 2 0 SDHA 289556 1.000000 0.71417 0.962000 0.40283 0.607000 0.37147 3.524000 0.53495 1.952000 0.56665 0.528000 0.53228 GTG NOVEL SDHA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206599.1 0 3.476358 KEEP 4 2 46 28 753 TT 0.999997 0.999927 0 + 4 25 133 0 0 8.01319 91 60 2443 148 ENST00000264932.6 0.042105 0.99993 ZDHHC11B 653082 __UNKNOWN__ __UNKNOWN__ 5 732375 732375 __UNKNOWN__ Intron SNP T T C rs111926303 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:732375T>C ENST00000508859.2 - 8 1056 ZDHHC11_ENST00000424784.2_Intron|ZDHHC11B_ENST00000382776.4_Intron|ZDHHC11B_ENST00000522356.1_5'UTR P0C7U3 ZH11B_HUMAN zinc finger, DHHC-type containing 11B NA NA integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) lung(3)|stomach(1) 4 CCCACGGAGATGCGGGCTTGG 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 5p15.33 2007-01-29 ENSG00000206077 653082 Zinc fingers, DHHC-type 32962 protein-coding gene gene with protein product NA Standard XM_926053 XM_003118532 NA Approved P0C7U3 ENST00000508859.2:c.1056+1491A>G chr5.hg19:g.732375T>C NA A6NHR3 hg19 0.02 -0.140247 AGAxGCG COVERED NOVEL ZDHHC11B-001 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000367532.2 0 3.30882 KEEP 3 0 0 11 315 TT 0.993072 0.259157 0 - 3 49 92 0 0 7.280163 13 60 335 31 ENST00000508859.2 0.1875 0.260965 BRD9 65980 __UNKNOWN__ __UNKNOWN__ 5 878460 878460 __UNKNOWN__ Intron SNP C C T rs112921031 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:878460C>T ENST00000467963.1 - 11 1438 BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Intron|BRD9_ENST00000323510.4_Intron|BRD9_ENST00000388890.4_Intron NM_023924.4 NP_076413.3 Q9H8M2 BRD9_HUMAN bromodomain containing 9 NA NA chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TCCCCGGGGCCGACACTTGCC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 100 85 90 NA NA NA 5 NA NA 878460 2203 4300 6503 SO:0001627 intron_variant AK023503 CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2 5p15.33 2008-02-05 ENSG00000028310 ENSG00000028310 65980 25818 protein-coding gene gene with protein product NA 12477932 Standard NM_023924 NM_023924 NA Approved FLJ13441 uc003jbq.3 Q9H8M2 OTTHUMG00000159258 ENST00000467963.1:c.1271+9G>A chr5.hg19:g.878460C>T NA A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9 hg19 CCDS34127.2 0.02 9.028507 GGCxGAC COVERED NOVEL BRD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354113.1 9 21.440541 KEEP 12 10 288 173 5768 CC 1 1 0 - 21 60 626 0 0 38.984755 300 60 9879 805 ENST00000467963.1 0.065421 1 BRD9 65980 __UNKNOWN__ __UNKNOWN__ 5 878551 878551 __UNKNOWN__ Missense_Mutation SNP A A G rs145107515 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:878551A>G ENST00000467963.1 - 11 1356 c.1190T>C c.(1189-1191)gTa>gCa p.V397A BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Missense_Mutation_p.V344A|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000323510.4_Missense_Mutation_p.V301A|BRD9_ENST00000388890.4_Missense_Mutation_p.V281A NM_023924.4 NP_076413.3 Q9H8M2 BRD9_HUMAN bromodomain containing 9 397 NA chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GTCGCCAAATACTGAATTATT 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 122 103 109 NA NA NA 5 NA NA 878551 2203 4300 6503 SO:0001583 missense AK023503 CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2 5p15.33 2008-02-05 ENSG00000028310 ENSG00000028310 65980 25818 protein-coding gene gene with protein product NA 12477932 Standard NM_023924 NM_023924 NA Approved FLJ13441 uc003jbq.3 Q9H8M2 OTTHUMG00000159258 ENST00000467963.1:c.1190T>C chr5.hg19:g.878551A>G ENSP00000419765:p.Val397Ala NA A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9 hg19 CCDS34127.2 0.02 3.723282 AATxCTG COVERED . . . . . . . . . . a 20.8 4.049307 0.75846 . . ENSG00000028310 ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963 T;T;T;T 0.43294 0.95;0.95;0.95;0.95 5.42 5.42 0.78866 . 0.179946 0.49305 D 0.000142 T 0.50222 0.1603 L 0.46157 1.445 0.80722 D 1 D;D;B;D;P 0.56746 0.977;0.977;0.304;0.971;0.948 P;P;B;P;B 0.54060 0.741;0.741;0.111;0.529;0.442 T 0.49916 -0.8888 10 0.49607 T 0.09 . 15.1213 0.72443 1.0:0.0:0.0:0.0 . 344;397;75;301;281 B4DMQ2;Q9H8M2;Q8NDF4;Q9H8M2-1;Q9H8M2-3 .;BRD9_HUMAN;.;.;. A 301;281;75;344;397 ENSP00000323557:V301A;ENSP00000373542:V281A;ENSP00000419845:V344A;ENSP00000419765:V397A ENSP00000323557:V301A V - 2 0 BRD9 931551 0.991000 0.36638 0.919000 0.36401 0.437000 0.31866 5.888000 0.69758 2.052000 0.61016 0.533000 0.62120 GTA NOVEL BRD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354113.1 6 14.954719 KEEP 8 4 138 98 2726 AA 1 1 0 - 10 43 331 0 0 22.178033 132 60 3480 285 ENST00000467963.1 0.070423 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 1572231 1572231 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:1572231G>A NA NA CTD-2245E15.3 (20406 upstream) : SDHAP3 (16911 downstream) NA NA NA CTTCTTCCCCGGAGTGCAGAA 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.1572231G>A NA hg19 0.02 2.938422 CCCxGAG COVERED NOVEL 0 3 24.97692 KEEP 0 0 0 83 2762 GG 1 0.999999 0 6 60 174 0 0 10.269126 100 60 3209 271 0.056604 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 1572275 1572275 __UNKNOWN__ IGR SNP A A G rs201968980 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:1572275A>G NA NA CTD-2245E15.3 (20450 upstream) : SDHAP3 (16867 downstream) NA NA NA GGACACATGCATGAGCTATTA 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.1572275A>G NA hg19 0.02 5.499137 TGCxTGA COVERED NOVEL 0 5 3.947792 KEEP 0 7 216 89 2729 AA 1 1 0 19 60 563 0 0 41.052877 124 60 3549 285 0.132867 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 4925083 4925083 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:4925083A>G NA NA CTD-2046I8.1 (50211 upstream) : CTD-2247C11.2 (42793 downstream) NA NA NA ctgtgtctgtatagaaagaag 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.4925083A>G NA hg19 0.02 -0.385786 TGTxTAG COVERED NOVEL 0 2 4.212655 KEEP 6 0 0 14 431 AA 0.993634 0.912325 0 3 60 107 0 0 7.377158 41 60 1131 99 0.068182 0.918171 ADCY2 108 __UNKNOWN__ __UNKNOWN__ 5 7698551 7698551 __UNKNOWN__ Intron SNP C C T rs4257743 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:7698551C>T ENST00000338316.4 + 7 1198 ADCY2_ENST00000537121.1_Intron NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234) adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 atgtgcacaacgtgcaggttt 0.413 NA C||| 875 0.17472 0.1354 0.3746 5008 , , NA 21495 0.1448 NA 0.1372 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028983 CCDS3872.2 5p15.3 2013-02-04 ENSG00000078295 ENSG00000078295 108 4.6.1.1 Adenylate cyclases 233 protein-coding gene gene with protein product 103071 NA 1427768 Standard NM_020546 NM_020546 NA Approved HBAC2, KIAA1060, AC2 uc003jdz.1 Q08462 OTTHUMG00000090476 ENST00000338316.4:c.1109+64C>T chr5.hg19:g.7698551C>T NA B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2 hg19 CCDS3872.2 0.02 -0.385902 CAAxGTG COVERED NOVEL ADCY2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206930.2 3 3.60982 KEEP 0 0 0 12 361 CC 0.993634 0.912325 0 + 4 60 123 0 0 8.519862 37 60 1128 61 ENST00000338316.4 0.097561 0.918171 SEMA5A 9037 __UNKNOWN__ __UNKNOWN__ 5 9039116 9039116 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:9039116T>C ENST00000382496.5 - 0 7783 CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A NA NA axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545) biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 gctgggattataggcatgagc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U52840 CCDS3875.1 5p15.2 2008-05-15 ENSG00000112902 ENSG00000112902 9037 Semaphorins 10736 protein-coding gene gene with protein product 609297 SEMAF NA 8817451, 9464278 Standard NM_003966 NA Approved semF uc003jek.2 Q13591 OTTHUMG00000090501 ENST00000382496.5:c.*3893A>G chr5.hg19:g.9039116T>C NA D3DTC6|O60408|Q1RLL9 hg19 CCDS3875.1 0.02 -0.315576 TTAxAGG COVERED NOVEL SEMA5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206989.2 5 3.309031 KEEP 2 0 0 11 329 TT 0.993072 0.812795 0 - 4 60 141 0 0 10.717911 29 60 779 67 ENST00000382496.5 0.121212 0.818465 SEMA5A 9037 __UNKNOWN__ __UNKNOWN__ 5 9108295 9108295 __UNKNOWN__ Missense_Mutation SNP C C T rs144597943 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:9108295C>T ENST00000382496.5 - 16 2695 c.2030G>A c.(2029-2031)cGc>cAc p.R677H NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 677 TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}. NA axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545) biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ACAGATCCTGCGGCGAGCTTG 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C HIS/ARG 1,4405 2.1+/-5.4 0,1,2202 76 65 69 NA 2030 5.3 1 5 dbSNP_134 69 0,8600 0,0,4300 no missense SEMA5A NM_003966.2 29 0,1,6502 TT,TC,CC NA 0.0,0.0227,0.0077 probably-damaging 677/1075 9108295 1,13005 2203 4300 6503 SO:0001583 missense U52840 CCDS3875.1 5p15.2 2008-05-15 ENSG00000112902 ENSG00000112902 9037 Semaphorins 10736 protein-coding gene gene with protein product 609297 SEMAF NA 8817451, 9464278 Standard NM_003966 NA Approved semF uc003jek.2 Q13591 OTTHUMG00000090501 ENST00000382496.5:c.2030G>A chr5.hg19:g.9108295C>T ENSP00000371936:p.Arg677His NA D3DTC6|O60408|Q1RLL9 hg19 CCDS3875.1 0.02 2.759119 CTGxGGC COVERED . . . . . . . . . . C 18.19 3.568684 0.65651 2.27E-4 0.0 ENSG00000112902 ENST00000382496 T 0.53423 0.62 6.17 5.31 0.75309 . 0.050534 0.85682 N 0.000000 T 0.32912 0.0845 N 0.16790 0.44 0.80722 D 1 B 0.12630 0.006 B 0.10450 0.005 T 0.11542 -1.0583 10 0.56958 D 0.05 . 11.8181 0.52222 0.0:0.9198:0.0:0.0802 . 677 Q13591 SEM5A_HUMAN H 677 ENSP00000371936:R677H ENSP00000371936:R677H R - 2 0 SEMA5A 9161295 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 2.735000 0.47377 1.627000 0.50400 0.655000 0.94253 CGC NOVEL SEMA5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206989.2 2 18.386022 KEEP 0 1 31 72 2502 CC 1 0.999998 0 - 48 60 1383 0 0 127.289799 67 60 2239 277 ENST00000382496.5 0.417391 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 10121856 10121856 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:10121856G>C NA NA CTD-2143L24.1 (217918 upstream) : CTD-2199O4.1 (15393 downstream) NA NA NA gctgggattagaggcgtgagc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.10121856G>C NA hg19 0.02 -0.342121 TTAxAGG COVERED NOVEL 0 5 2.709061 KEEP 0 0 0 9 342 GG 0.99254 0.859287 0 6 60 190 0 0 14.742726 31 60 1066 62 0.162162 0.865745 CMBL 134147 __UNKNOWN__ __UNKNOWN__ 5 10279944 10279944 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:10279944A>G ENST00000296658.3 - 0 1779 NM_138809.3 NP_620164.1 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase homolog (Pseudomonas) NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) hydrolase activity (GO:0016787) endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1) 13 gagccaccgcacccggccTGT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3878.1 5p15.2 2010-06-25 2006-09-12 ENSG00000164237 ENSG00000164237 134147 3.1.-.- 25090 protein-coding gene gene with protein product 613379 carboxymethylenebutenolidase-like (Pseudomonas) NA 3804974, 20177059 Standard NM_138809 NM_138809 NA Approved FLJ23617 uc003jes.3 Q96DG6 OTTHUMG00000131043 ENST00000296658.3:c.*621T>C chr5.hg19:g.10279944A>G NA D3DTC7|Q8TED6 hg19 CCDS3878.1 0.02 1.652132 CGCxCCC COVERED NOVEL CMBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253689.1 17 8.724808 KEEP 9 0 0 29 891 AA 0.999957 0.999516 0 - 4 60 135 0 0 8.539414 75 60 2151 169 ENST00000296658.3 0.050633 0.999559 TRIO 7204 __UNKNOWN__ __UNKNOWN__ 5 14500738 14500738 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:14500738T>C ENST00000344204.4 + 54 8356 TRIO_ENST00000344135.5_Intron|TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor NA NA apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cytosol (GO:0005829) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) cagtggctcatgcctgtaatc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF091395 CCDS3883.1 5p14-p15.1 2013-01-11 2012-07-12 ENSG00000038382 ENSG00000038382 7204 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing 12303 protein-coding gene gene with protein product 601893 triple functional domain (PTPRF interacting) NA 8643598 Standard NM_007118 NM_007118 NA Approved ARHGEF23 uc003jff.3 O75962 OTTHUMG00000131057 ENST00000344204.4:c.8333-1950T>C chr5.hg19:g.14500738T>C NA D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8 hg19 CCDS3883.1 0.02 -0.263091 TCAxGCC COVERED NOVEL TRIO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253711.2 7 2.707887 KEEP 2 0 0 9 275 TT 0.99254 0.688494 0 + 3 60 103 0 0 7.694804 23 60 664 59 ENST00000344204.4 0.115385 0.693668 ANKH 56172 __UNKNOWN__ __UNKNOWN__ 5 14709269 14709269 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:14709269T>C ENST00000284268.6 - 0 3846 ANKH_ENST00000535119.1_Intron NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator NA NA locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886) inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 tcccaaagtgttgggattaca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF274753 CCDS3885.1 5p15.2 2013-06-19 2013-06-19 ENSG00000154122 ENSG00000154122 56172 15492 protein-coding gene gene with protein product 605145 ankylosis, progressive (mouse) homolog, craniometaphyseal dysplasia, Jackson type (dominant), ankylosis, progressive homolog (mouse) CCAL2, CMDJ NA 10894769, 12297989, 11326338 Standard NM_054027 NM_054027 NA Approved HANK, ANK, CPPDD uc003jfm.4 Q9HCJ1 OTTHUMG00000090539 ENST00000284268.6:c.*2037A>G chr5.hg19:g.14709269T>C NA B2RCA7|B3KMG4|D3DTD4|Q9NQW2 hg19 CCDS3885.1 0.02 -0.394358 GTGxTGG COVERED NOVEL ANKH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207063.1 3 4.845879 KEEP 0 1 25 25 749 TT 0.999957 0.9266 0 - 6 60 191 0 1 14.69706 33 60 892 89 ENST00000284268.6 0.153846 0.92664 FAM134B 54463 __UNKNOWN__ __UNKNOWN__ 5 16474802 16474802 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:16474802G>T ENST00000399793.2 - 0 1504 FAM134B_ENST00000306320.9_3'UTR NM_019000.4 NP_061873.2 Q9H6L5 F134B_HUMAN family with sequence similarity 134, member B NA NA sensory perception of pain (GO:0019233) cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1) 16 tttcttgtttGAAATTTTTTT 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 48 46 47 NA NA NA 5 NA NA 16474802 1746 3886 5632 SO:0001624 3_prime_UTR_variant BC053326 CCDS43304.1, CCDS43305.1 5p15.1 2014-09-17 ENSG00000154153 ENSG00000154153 54463 25964 protein-coding gene gene with protein product 613114 NA 19838196, 24327336 Standard NM_001034850 NM_001034850 NA Approved FLJ20152 uc003jfs.3 Q9H6L5 OTTHUMG00000161788 ENST00000399793.2:c.*48C>A chr5.hg19:g.16474802G>T NA Q69YN8|Q9H6K6|Q9H764|Q9NXM8 hg19 CCDS43305.1 0.02 2.542253 TTTxAAA COVERED NOVEL FAM134B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366092.1 20 6.974124 KEEP 2 14 178 91 2470 GG 1 0.999994 0 - 11 60 181 2 2 9.031769 94 60 2696 311 ENST00000399793.2 0.104762 0.999994 GUSBP1 728411 __UNKNOWN__ __UNKNOWN__ 5 21462101 21462101 __UNKNOWN__ RNA SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:21462101A>T ENST00000607545.1 + 0 179 NR_027026.1 Q15486 GUSP1_HUMAN glucuronidase, beta pseudogene 1 NA NA carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) NA cccagcacttagggaggccaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC064850, X75940 5p14.3 2012-10-04 ENSG00000183666 ENSG00000183666 728411 13670 pseudogene pseudogene NA 8565635 Standard NG_008324 NR_027026 NA Approved uc010iub.3 Q15486 OTTHUMG00000162474 ENST00000607545.1: chr5.hg19:g.21462101A>T NA A6NLY8|A8K1B7|Q969T8|Q9BUH2 hg19 0.02 -0.228007 CTTxGGG COVERED NOVEL GUSBP1-006 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000470546.1 6 2.541006 KEEP 8 1 33 20 605 AA 0.999869 0.612327 0 + 5 60 147 0 0 11.560037 21 60 607 69 ENST00000607545.1 0.192308 0.612407 GUSBP1 728411 __UNKNOWN__ __UNKNOWN__ 5 21479424 21479424 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:21479424T>C ENST00000607545.1 + 0 179 NR_027026.1 Q15486 GUSP1_HUMAN glucuronidase, beta pseudogene 1 NA NA carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) NA gacggggttttaccatgttag 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC064850, X75940 5p14.3 2012-10-04 ENSG00000183666 ENSG00000183666 728411 13670 pseudogene pseudogene NA 8565635 Standard NG_008324 NR_027026 NA Approved uc010iub.3 Q15486 OTTHUMG00000162474 ENST00000607545.1: chr5.hg19:g.21479424T>C NA A6NLY8|A8K1B7|Q969T8|Q9BUH2 hg19 0.02 1.468011 TTTxACC COVERED NOVEL GUSBP1-006 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000470546.1 13 4.210834 KEEP 7 0 0 14 406 TT 0.995343 0.992519 0 + 7 40 210 0 0 14.513588 62 60 1588 107 ENST00000607545.1 0.101449 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 25073108 25073108 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:25073108A>G NA NA Y_RNA (162304 upstream) : RP11-549K20.1 (53305 downstream) NA NA NA agcactttggaaggccgaggc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.25073108A>G NA hg19 0.02 -0.236796 TGGxAGG UNCOVERED NOVEL 0 8 2.407072 KEEP 4 0 0 8 245 AA 0 0 0 3 60 103 0 0 7.805522 21 60 615 51 0.125 0.612407 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 31723080 31723080 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:31723080A>C ENST00000438447.1 + 2 28 O15018 PDZD2_HUMAN PDZ domain containing 2 NA NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 caggcgtgagacaccgtgcct 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.-360-75916A>C chr5.hg19:g.31723080A>C NA Q9BXD4 hg19 CCDS34137.1 0.02 -0.412219 GAGxCAC COVERED NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 6 5.115648 KEEP 0 0 0 17 544 AA 0.999366 0.953887 0 + 4 60 131 0 0 9.318853 37 60 1105 89 ENST00000438447.1 0.097561 0.954491 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 31959732 31959732 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:31959732G>A ENST00000438447.1 + 3 864 PDZD2_ENST00000282493.3_Intron O15018 PDZD2_HUMAN PDZ domain containing 2 NA NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ctgggattacgggcatgagcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.477-23529G>A chr5.hg19:g.31959732G>A NA Q9BXD4 hg19 CCDS34137.1 0.02 -0.201754 TACxGGC COVERED NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 7 2.708624 KEEP 0 0 0 9 306 GG 0.99254 0.486885 0 + 4 60 121 0 0 9.662929 16 60 526 45 ENST00000438447.1 0.2 0.490544 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 32052964 32052964 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:32052964C>T ENST00000438447.1 + 9 2173 PDZD2_ENST00000282493.3_Intron O15018 PDZD2_HUMAN PDZ domain containing 2 NA NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ttgcccaggccggagtgcagt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.1785+128C>T chr5.hg19:g.32052964C>T NA Q9BXD4 hg19 CCDS34137.1 0.02 1.555243 GGCxGGA COVERED NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 4 5.113401 KEEP 0 0 0 17 525 CC 0.999366 0.988916 0 + 8 60 245 0 0 19.259599 36 60 1095 81 ENST00000438447.1 0.181818 0.989542 MTMR12 54545 __UNKNOWN__ __UNKNOWN__ 5 32296718 32296718 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:32296718T>C ENST00000382142.3 - 1 252 MTMR12_ENST00000280285.5_Intron|MTMR12_ENST00000264934.5_Intron NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 NA NA cytoplasm (GO:0005737) phosphatase activity (GO:0016791) breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 agtttgagactagcctgggca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051469 CCDS34138.1, CCDS75230.1 5p15.33 2011-06-09 2005-04-07 2005-04-07 ENSG00000150712 ENSG00000150712 54545 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 18191 protein-coding gene gene with protein product 606501 phosphatidylinositol-3-phosphate associated protein PIP3AP NA 11504939, 12495846 Standard NM_019061 XM_005248313 NA Approved 3-PAP, FLJ20476, KIAA1682, 3PAP uc003jhq.3 Q9C0I1 OTTHUMG00000161978 ENST00000382142.3:c.81+16145A>G chr5.hg19:g.32296718T>C NA Q69YJ4|Q6PFW3|Q96QU2|Q9NX27 hg19 CCDS34138.1 0.02 -0.420878 GACxAGC COVERED NOVEL MTMR12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366579.1 5 4.513436 KEEP 0 0 0 15 459 TT 0.99649 0.945073 0 - 3 60 102 0 0 6.760657 45 60 1248 73 ENST00000382142.3 0.0625 0.948402 TARS 6897 __UNKNOWN__ __UNKNOWN__ 5 33468919 33468919 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:33468919T>C ENST00000265112.3 + 0 3589 NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase NA NA gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829) NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) cctgcctcagtctcccaaagt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095852 CCDS3899.1, CCDS58943.1 5p13.2 2012-10-02 ENSG00000113407 ENSG00000113407 6897 6.1.1.3 Aminoacyl tRNA synthetases / Class II 11572 protein-coding gene gene with protein product threonine tRNA ligase 1, cytoplasmic 187790 NA Standard NM_152295 NM_152295 NA Approved uc011coc.3 P26639 OTTHUMG00000090683 ENST00000265112.3:c.*1106T>C chr5.hg19:g.33468919T>C NA A8K8I1|B4DEG8|Q96FP5|Q9BWA6 hg19 CCDS3899.1 0.02 1.698989 CAGxCTC COVERED NOVEL TARS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207367.1 10 6.017533 KEEP 0 0 0 20 612 TT 0.999863 0.999698 0 + 5 60 160 0 1 10.270593 75 60 2146 148 ENST00000265112.3 0.0625 0.999835 SLC45A2 51151 __UNKNOWN__ __UNKNOWN__ 5 33972108 33972108 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:33972108C>A ENST00000296589.4 - 3 709 SLC45A2_ENST00000382102.3_Intron|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000342059.3_Intron NM_016180.3 NP_057264 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 NA NA developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601) integral component of membrane (GO:0016021) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 tggcctcccacagtgttggga 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(31;380 859 8490 22203 49048) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF172849 CCDS3901.1, CCDS43308.1, CCDS75232.1 5p13.3 2013-08-06 2005-10-06 2005-10-06 ENSG00000164175 ENSG00000164175 51151 Solute carriers 16472 protein-coding gene gene with protein product 606202 membrane associated transporter MATP NA 11916009, 11574907 Standard NM_016180 NM_001012509 NA Approved AIM-1, OCA4 uc003jid.3 Q9UMX9 OTTHUMG00000090719 ENST00000296589.4:c.563-7987G>T chr5.hg19:g.33972108C>A NA Q6P2P0|Q9BTM3 hg19 CCDS3901.1 0.02 1.412146 CCAxAGT COVERED NOVEL SLC45A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207443.2 13 3.345006 KEEP 1 1 31 22 749 CC 0.999892 0.994315 0 - 4 60 122 0 0 7.762633 55 60 1825 109 ENST00000296589.4 0.067797 0.994422 SLC45A2 51151 __UNKNOWN__ __UNKNOWN__ 5 33972113 33972113 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:33972113T>C ENST00000296589.4 - 3 709 SLC45A2_ENST00000382102.3_Intron|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000342059.3_Intron NM_016180.3 NP_057264 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 NA NA developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601) integral component of membrane (GO:0016021) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 tcccacagtgttgggattaca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(31;380 859 8490 22203 49048) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF172849 CCDS3901.1, CCDS43308.1, CCDS75232.1 5p13.3 2013-08-06 2005-10-06 2005-10-06 ENSG00000164175 ENSG00000164175 51151 Solute carriers 16472 protein-coding gene gene with protein product 606202 membrane associated transporter MATP NA 11916009, 11574907 Standard NM_016180 NM_001012509 NA Approved AIM-1, OCA4 uc003jid.3 Q9UMX9 OTTHUMG00000090719 ENST00000296589.4:c.563-7992A>G chr5.hg19:g.33972113T>C NA Q6P2P0|Q9BTM3 hg19 CCDS3901.1 0.02 1.774814 GTGxTGG COVERED NOVEL SLC45A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207443.2 14 7.216378 KEEP 1 0 0 24 682 TT 0.999909 0.996634 0 - 4 60 135 0 0 8.942906 59 60 1640 118 ENST00000296589.4 0.063492 0.996724 RP11-1023L17.1 0 __UNKNOWN__ __UNKNOWN__ 5 34184561 34184561 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:34184561A>G ENST00000514048.1 - 0 43 NA NA NA gctcacgcctataatcccagc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000514048.1: chr5.hg19:g.34184561A>G NA hg19 0.02 1.54809 CCTxTAA COVERED NOVEL RP11-1023L17.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000367775.1 30 8.724715 KEEP 40 0 0 29 876 AA 0.999863 0.999793 0 - 4 38 138 0 0 8.570642 88 50 2421 236 ENST00000514048.1 0.043478 0.99993 RP11-1023L17.1 0 __UNKNOWN__ __UNKNOWN__ 5 34185268 34185268 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:34185268G>A ENST00000514048.1 - 0 43 NA NA NA cctggccaacgtggtgaaacc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000514048.1: chr5.hg19:g.34185268G>A NA hg19 0.02 -0.342101 AACxTGG COVERED NOVEL RP11-1023L17.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000367775.1 10 3.611691 KEEP 3 0 0 12 415 GG 0.993634 0.860234 0 - 5 55 145 0 0 10.589375 31 60 1025 72 ENST00000514048.1 0.138889 0.865745 RAI14 26064 __UNKNOWN__ __UNKNOWN__ 5 34677521 34677521 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:34677521T>G ENST00000265109.3 + 2 239 RAI14_ENST00000428746.2_Intron|RAI14_ENST00000512629.1_Intron NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 NA NA actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) cttccaaagttctgggattac 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037755 CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1 5p13.3-p13.2 2013-01-10 ENSG00000039560 ENSG00000039560 26064 Ankyrin repeat domain containing 14873 protein-coding gene gene with protein product novel retinal pigment epithelial 606586 NA 11042181 Standard NM_015577 NM_015577 NA Approved NORPEG, KIAA1334, RAI13, DKFZp564G013 uc011coj.2 Q9P0K7 OTTHUMG00000162019 ENST00000265109.3:c.-48-9456T>G chr5.hg19:g.34677521T>G NA E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5 hg19 CCDS34142.1 0.02 -0.227272 AGTxCTG COVERED NOVEL RAI14-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366786.1 6 2.707883 KEEP 0 0 0 9 274 TT 0.99254 0.578582 0 + 5 60 138 0 0 10.78227 20 60 577 48 ENST00000265109.3 0.2 0.58293 SKP2 6502 __UNKNOWN__ __UNKNOWN__ 5 36183655 36183655 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:36183655A>C ENST00000274255.6 + 0 2993 SKP2_ENST00000274254.5_Intron NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726) aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005) identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) aggcatgagcaactgcgccca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U33761 CCDS3915.1, CCDS3916.1, CCDS58944.1 5p13 2012-02-23 2012-02-23 ENSG00000145604 ENSG00000145604 6502 F-boxes / Leucine-rich repeats 10901 protein-coding gene gene with protein product 601436 S-phase kinase-associated protein 2 (p45) NA 8646875 Standard NM_005983 NM_005983 NA Approved FBXL1, FBL1, p45 uc003jkc.2 Q13309 OTTHUMG00000131106 ENST00000274255.6:c.*1522A>C chr5.hg19:g.36183655A>C NA A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69 hg19 CCDS3916.1 0.02 -0.359175 AGCxACT COVERED NOVEL SKP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253769.2 4 6.619673 KEEP 0 0 0 22 692 AA 0.999879 0.888767 0 + 3 60 97 0 0 6.577874 35 60 1022 84 ENST00000274255.6 0.078947 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 36869031 36869031 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:36869031T>C NA NA CTD-2653M23.3 (6712 upstream) : NIPBL (7829 downstream) NA NA NA gcctgtaatctcagcactttg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.36869031T>C NA hg19 0.02 -0.385925 ATCxCAG COVERED NOVEL 0 3 3.009084 KEEP 0 0 0 10 324 TT 0.992708 0.919883 0 4 60 136 0 0 9.863421 36 60 1080 79 0.1 0.92664 NUP155 9631 __UNKNOWN__ __UNKNOWN__ 5 37360340 37360340 __UNKNOWN__ Intron SNP T T C rs545991864 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:37360340T>C ENST00000231498.3 - 4 596 NUP155_ENST00000513532.1_Intron|NUP155_ENST00000381843.2_Intron NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa NA NA atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215) endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) atccccagcattttgggaggc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ007558 CCDS3921.1, CCDS43310.1, CCDS64142.1 5p13.1 2008-02-05 2002-08-29 ENSG00000113569 ENSG00000113569 9631 8063 protein-coding gene gene with protein product 606694 nucleoporin 155kD NA 10191094 Standard NM_153485, NM_004298 NM_153485 NA Approved KIAA0791, N155 uc003jku.1 O75694 OTTHUMG00000090803 ENST00000231498.3:c.393-2087A>G chr5.hg19:g.37360340T>C NA Q9UBE9|Q9UFL5 hg19 CCDS3921.1 0.02 -0.184192 GCAxTTT COVERED NOVEL NUP155-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207593.2 3 2.708295 KEEP 0 0 0 9 286 TT 0.99254 0.420319 0 - 3 60 103 0 0 7.992048 18 60 541 51 ENST00000231498.3 0.142857 0.423478 RICTOR 253260 __UNKNOWN__ __UNKNOWN__ 5 38942403 38942403 __UNKNOWN__ 3'UTR SNP A A C rs41271097 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:38942403A>C ENST00000357387.3 - 0 5160 RICTOR_ENST00000296782.5_3'UTR NM_152756.3 NP_689969.2 RPTOR independent companion of MTOR, complex 2 NA NA NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CATAAATATGAGGTCAGGATT 0.383 NA A||| 14 0.00279553 0 0.0014 5008 , , NA 14022 0 NA 0.0109 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 A 3,4403 4.2+/-10.8 0,3,2200 97 95 96 NA 3.3 1 5 dbSNP_127 96 90,8510 51.1+/-111.2 0,90,4210 no utr-3 RICTOR NM_152756.3 0,93,6410 CC,CA,AA NA 1.0465,0.0681,0.7151 38942403 93,12913 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS34148.1, CCDS68861.1 5p13.1 2009-07-09 ENSG00000164327 ENSG00000164327 253260 28611 protein-coding gene gene with protein product rapamycin-insensitive companion of mTOR, pianissimo 609022 NA 12477932 Standard NM_152756 XM_005248278 NA Approved MGC39830, AVO3, PIA, KIAA1999 uc003jlp.2 Q6R327 OTTHUMG00000162037 ENST00000357387.3:c.*3T>G chr5.hg19:g.38942403A>C NA hg19 CCDS34148.1 0.02 1.312465 ATGxGGT COVERED NOVEL RICTOR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366985.1 2 28.586689 KEEP 0 0 0 95 3061 AA 1 0.999962 0 - 4 60 132 0 0 7.875314 93 60 2831 269 ENST00000357387.3 0.041237 0.999962 DAB2 1601 __UNKNOWN__ __UNKNOWN__ 5 39407542 39407542 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:39407542A>G ENST00000320816.6 - 2 367 DAB2_ENST00000545653.1_Intron|DAB2_ENST00000339788.6_Intron NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) NA NA activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055) apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) ggctggtctcaaactcctgcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U53446 CCDS34149.1, CCDS58946.1 5p13.1 2013-10-03 2013-03-08 ENSG00000153071 ENSG00000153071 1601 2662 protein-coding gene gene with protein product 601236 disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein), disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) NA 8660969, 9620555 Standard NM_001343 NM_001343 NA Approved DOC-2 uc003jlx.3 P98082 OTTHUMG00000162043 ENST00000320816.6:c.101-13019T>C chr5.hg19:g.39407542A>G NA A6NES5|Q13598|Q9BTY0|Q9UK04 hg19 CCDS34149.1 0.02 -0.210506 CTCxAAC COVERED NOVEL DAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367014.1 13 4.2125 KEEP 4 0 0 14 436 AA 0.993072 0.518544 0 - 5 60 164 0 0 14.16747 13 60 386 52 ENST00000320816.6 0.277778 0.522161 DAB2 1601 __UNKNOWN__ __UNKNOWN__ 5 39407582 39407582 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:39407582C>T ENST00000320816.6 - 2 367 DAB2_ENST00000545653.1_Intron|DAB2_ENST00000339788.6_Intron NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) NA NA activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055) apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) ggattacaggcgtgagccacc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U53446 CCDS34149.1, CCDS58946.1 5p13.1 2013-10-03 2013-03-08 ENSG00000153071 ENSG00000153071 1601 2662 protein-coding gene gene with protein product 601236 disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein), disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) NA 8660969, 9620555 Standard NM_001343 NM_001343 NA Approved DOC-2 uc003jlx.3 P98082 OTTHUMG00000162043 ENST00000320816.6:c.101-13059G>A chr5.hg19:g.39407582C>T NA A6NES5|Q13598|Q9BTY0|Q9UK04 hg19 CCDS34149.1 0.02 -0.254395 AGGxGTG COVERED NOVEL DAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367014.1 12 4.514628 KEEP 2 0 0 15 524 CC 0.995343 0.66541 0 - 3 60 94 0 0 7.16086 17 60 564 67 ENST00000320816.6 0.15 0.668523 RPL37 6167 __UNKNOWN__ __UNKNOWN__ 5 40827903 40827903 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:40827903C>T ENST00000274242.5 - 0 5146 NM_000997.4 NP_000988.1 P61927 RL37_HUMAN ribosomal protein L37 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625) metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) lung(3)|ovary(1) 4 Breast(839;0.238) aacctctgccccccaggctca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(188;1411 2035 4978 19588 31462) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L11567 CCDS3934.1 5p13.1 2013-09-23 ENSG00000145592 ENSG00000145592 6167 L ribosomal proteins 10347 protein-coding gene gene with protein product 60S ribosomal protein L37a 604181 NA 7545944, 9582194 Standard NM_000997 NM_000997 NA Approved L37 uc003jme.1 P61927 OTTHUMG00000094774 ENST00000274242.5:c.*4703G>A chr5.hg19:g.40827903C>T NA B2R4H2|P02403|Q6IBB4|Q99883 hg19 CCDS3934.1 0.02 1.584338 GCCxCCC COVERED NOVEL RPL37-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000211583.2 8 6.744875 KEEP 1 1 30 33 1076 CC 0.999998 0.996231 0 - 5 60 149 0 1 9.676047 59 60 1930 122 ENST00000274242.5 0.078125 0.996233 RPL37 6167 __UNKNOWN__ __UNKNOWN__ 5 40829900 40829900 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:40829900T>A ENST00000274242.5 - 0 3149 NM_000997.4 NP_000988.1 P61927 RL37_HUMAN ribosomal protein L37 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625) metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) lung(3)|ovary(1) 4 Breast(839;0.238) tcagcctccctagtagctggg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(188;1411 2035 4978 19588 31462) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L11567 CCDS3934.1 5p13.1 2013-09-23 ENSG00000145592 ENSG00000145592 6167 L ribosomal proteins 10347 protein-coding gene gene with protein product 60S ribosomal protein L37a 604181 NA 7545944, 9582194 Standard NM_000997 NM_000997 NA Approved L37 uc003jme.1 P61927 OTTHUMG00000094774 ENST00000274242.5:c.*2706A>T chr5.hg19:g.40829900T>A NA B2R4H2|P02403|Q6IBB4|Q99883 hg19 CCDS3934.1 0.02 1.206034 CCCxAGT COVERED NOVEL RPL37-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000211583.2 10 4.512502 KEEP 0 0 0 15 455 GT 0.999366 0.997568 0 - 5 60 134 0 0 8.154722 60 60 1705 121 ENST00000274242.5 0.076923 0.9982 RPL37 6167 __UNKNOWN__ __UNKNOWN__ 5 40831098 40831098 __UNKNOWN__ 3'UTR SNP T T C rs374504069 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:40831098T>C ENST00000274242.5 - 0 1951 NM_000997.4 NP_000988.1 P61927 RL37_HUMAN ribosomal protein L37 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625) metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) lung(3)|ovary(1) 4 Breast(839;0.238) cctgtaatcctagcactttgg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(188;1411 2035 4978 19588 31462) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L11567 CCDS3934.1 5p13.1 2013-09-23 ENSG00000145592 ENSG00000145592 6167 L ribosomal proteins 10347 protein-coding gene gene with protein product 60S ribosomal protein L37a 604181 NA 7545944, 9582194 Standard NM_000997 NM_000997 NA Approved L37 uc003jme.1 P61927 OTTHUMG00000094774 ENST00000274242.5:c.*1508A>G chr5.hg19:g.40831098T>C NA B2R4H2|P02403|Q6IBB4|Q99883 hg19 CCDS3934.1 0.02 3.225329 TCCxAGC COVERED NOVEL RPL37-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000211583.2 11 6.491293 KEEP 0 2 79 49 1496 TT 1 1 0 - 6 60 178 0 0 10.129129 124 70 3470 248 ENST00000274242.5 0.046154 1 C5orf51 285636 __UNKNOWN__ __UNKNOWN__ 5 41914483 41914483 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:41914483T>C ENST00000381647.2 + 5 620 NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 NA NA endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 cgcttgaacctaggaggcgga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833916, AK094002 CCDS34151.1 5p13.1 2008-07-18 ENSG00000205765 ENSG00000205765 285636 27750 protein-coding gene gene with protein product NA 14702039 Standard NM_175921 NM_175921 NA Approved LOC285636 uc003jmo.3 A6NDU8 OTTHUMG00000162084 ENST00000381647.2:c.601+2198T>C chr5.hg19:g.41914483T>C NA A2RRM9 hg19 CCDS34151.1 0.02 1.897504 ACCxAGG COVERED NOVEL C5orf51-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367144.1 5 10.35228 KEEP 0 1 36 47 1416 TT 1 0.979526 0 + 4 60 139 0 0 9.869866 43 60 1228 124 ENST00000381647.2 0.085106 0.979526 C5orf51 285636 __UNKNOWN__ __UNKNOWN__ 5 41914484 41914484 __UNKNOWN__ Intron SNP A A G rs537203691 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:41914484A>G ENST00000381647.2 + 5 620 NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 NA NA endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 gcttgaacctaggaggcggag 0.463 NA a||| 1 0.000199681 0 0 5008 , , NA 17868 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833916, AK094002 CCDS34151.1 5p13.1 2008-07-18 ENSG00000205765 ENSG00000205765 285636 27750 protein-coding gene gene with protein product NA 14702039 Standard NM_175921 NM_175921 NA Approved LOC285636 uc003jmo.3 A6NDU8 OTTHUMG00000162084 ENST00000381647.2:c.601+2199A>G chr5.hg19:g.41914484A>G NA A2RRM9 hg19 CCDS34151.1 0.02 1.92381 CCTxGGA COVERED NOVEL C5orf51-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367144.1 5 6.48738 KEEP 0 2 70 46 1399 AA 1 0.979526 0 + 5 60 169 0 0 12.420573 41 60 1177 121 ENST00000381647.2 0.108696 0.979526 SEPP1 6414 __UNKNOWN__ __UNKNOWN__ 5 42810837 42810837 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:42810837A>G ENST00000514985.1 - 1 244 SEPP1_ENST00000506577.1_Intron|SEPP1_ENST00000511224.1_Intron|SEPP1_ENST00000507920.1_Intron NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 NA NA brain development (GO:0007420)|growth (GO:0040007)|locomotory behavior (GO:0007626)|post-embryonic development (GO:0009791)|response to oxidative stress (GO:0006979)|selenium compound metabolic process (GO:0001887)|sexual reproduction (GO:0019953) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) selenium binding (GO:0008430) kidney(10)|large_intestine(1)|lung(4) 15 tgggattacaagcgtgagcca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 80 96 91 NA NA NA 5 NA NA 42810837 901 1750 2651 SO:0001627 intron_variant BC040075 CCDS43311.1 5q31 2012-03-01 ENSG00000250722 6414 10751 protein-coding gene gene with protein product 601484 NA 8421687 Standard NM_005410 NM_001085486 NA Approved SeP uc011cpu.2 P49908 ENST00000514985.1:c.12+1100T>C chr5.hg19:g.42810837A>G NA Q6PD59|Q6PI43|Q6PI87|Q6PJF9 hg19 CCDS43311.1 0.02 10.087477 ACAxGCG COVERED NOVEL SEPP1-001 KNOWN basic|appris_principal|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000367483.1 28 37.498375 KEEP 0 5 188 190 6241 AA 1 1 0 - 18 60 633 0 0 44.167078 221 60 6696 661 ENST00000514985.1 0.075314 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 43032954 43032954 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:43032954A>G NA NA CTD-2035E11.3 (8605 upstream) : CTD-2035E11.4 (863 downstream) NA NA NA agcactttggaaggccgaggc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.43032954A>G NA hg19 0.02 -0.175389 TGGxAGG COVERED NOVEL 0 3 2.708202 KEEP 0 0 0 9 285 AA 0.99254 0.384517 0 3 60 95 0 0 7.672737 12 60 350 45 0.2 0.387407 CCL28 56477 __UNKNOWN__ __UNKNOWN__ 5 43384169 43384169 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:43384169A>G ENST00000513525.1 - 3 357 CCL28_ENST00000537013.1_Intron|CCL28_ENST00000361115.4_Intron Q9NRJ3 CCL28_HUMAN chemokine (C-C motif) ligand 28 NA NA cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) chemokine activity (GO:0008009) kidney(3)|lung(3)|ovary(1) 7 tccagcctggacaacaagagg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(178;1549 1997 2043 22794 27051) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF110384 CCDS3944.1 5p12 2013-02-25 ENSG00000151882 ENSG00000151882 56477 Chemokine ligands, Endogenous ligands 17700 protein-coding gene gene with protein product CC chemokine CCL28, mucosae-associated epithelial chemokine, small inducible cytokine subfamily A (Cys-Cys), member 28, small inducible cytokine A28 605240 NA 10781587, 11295038 Standard NM_148672 XR_241707 NA Approved SCYA28, MEC, CCK1 uc003jnu.3 Q9NRJ3 OTTHUMG00000094811 ENST00000513525.1:c.51-2015T>C chr5.hg19:g.43384169A>G NA D7RIE7 hg19 0.02 3.80365 TGGxCAA COVERED NOVEL CCL28-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367999.1 15 2.945697 KEEP 1 1 38 23 756 AA 0.999909 0.999903 0 - 6 60 207 1 0 13.631627 97 60 2872 212 ENST00000513525.1 0.058252 0.999994 RP11-473L15.2 0 __UNKNOWN__ __UNKNOWN__ 5 44388951 44388951 __UNKNOWN__ RNA SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:44388951G>T ENST00000502457.1 + 0 118 NA NA NA TAACTCCTCGGAAAAGCCGGC 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000502457.1: chr5.hg19:g.44388951G>T NA hg19 0.02 -0.385836 TCGxAAA COVERED NOVEL RP11-473L15.2-001 KNOWN basic antisense NA antisense OTTHUMT00000368031.1 0 15.048177 KEEP 0 0 0 50 1717 GG 1 0.918171 0 + 18 60 496 0 0 45.252457 26 60 838 108 ENST00000502457.1 0.409091 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49440108 49440108 __UNKNOWN__ IGR SNP T T C rs148883709 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:49440108T>C NA NA None (None upstream) : EMB (251917 downstream) NA NA NA ctaaagaagtttctgagaatg 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.49440108T>C NA hg19 0.02 -0.140325 AGTxTCT UNCOVERED NOVEL 0 6 2.407367 KEEP 6 0 0 8 254 TT 0 0 0 4 43 133 0 0 13.132291 3 42 92 39 0.571429 0.260965 ITGA1 3672 __UNKNOWN__ __UNKNOWN__ 5 52249055 52249055 __UNKNOWN__ 3'UTR SNP T T C rs3088363 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:52249055T>C ENST00000282588.6 + 0 4772 CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 NA NA activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311) acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) ACACTTAAAGTAGTTTTGTGT 0.328 NA C||| 2278 0.454872 0.3797 0.4741 5008 , , NA 17938 0.38 NA 0.5676 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X68742 CCDS3955.1 5q11.1 2010-03-23 ENSG00000213949 ENSG00000213949 3672 CD molecules, Integrins 6134 protein-coding gene gene with protein product 192968 NA 8428973, 11937138 Standard NM_181501 NM_181501 NA Approved VLA1, CD49a uc003jou.3 P56199 OTTHUMG00000131163 ENST00000282588.6:c.*774T>C chr5.hg19:g.52249055T>C NA B2RNU0 hg19 CCDS3955.1 0.02 -0.262906 AAGxAGT COVERED NOVEL ITGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253855.3 1 8.422995 KEEP 0 0 0 28 839 TT 0.999997 0.693666 0 + 3 60 99 0 0 7.145516 26 60 681 78 ENST00000282588.6 0.103448 0.693668 GZMA 3001 __UNKNOWN__ __UNKNOWN__ 5 54401536 54401536 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:54401536T>C ENST00000274306.6 + 2 250 NM_006144.3 NP_006135 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) NA NA apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603) extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634) protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) cacagtggcttacacctgtaa 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3965.1 5q11-q12 2008-07-18 ENSG00000145649 ENSG00000145649 3001 4708 protein-coding gene gene with protein product CTL tryptase, Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease) 140050 HFSP, CTLA3 NA 3262682, 3533635 Standard NM_006144 NM_006144 NA Approved uc003jpm.3 P12544 OTTHUMG00000097011 ENST00000274306.6:c.215+90T>C chr5.hg19:g.54401536T>C NA A4PHN1|Q6IB36 hg19 CCDS3965.1 0.02 -0.359125 GCTxACA COVERED NOVEL GZMA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214100.2 2 4.833041 KEEP 0 1 34 28 832 TT 0.999997 0.888873 0 + 3 60 104 0 0 7.207595 37 60 1028 88 ENST00000274306.6 0.075 0.888875 SLC38A9 153129 __UNKNOWN__ __UNKNOWN__ 5 54986963 54986963 __UNKNOWN__ Intron SNP A A G rs3846505 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:54986963A>G ENST00000512595.1 - 2 208 SLC38A9_ENST00000416547.2_Intron|SLC38A9_ENST00000396865.2_Intron|SLC38A9_ENST00000318672.3_Intron|SLC38A9_ENST00000539768.1_Intron|SLC38A9_ENST00000515629.1_Intron NM_001258287.1 NP_001245216.1 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 NA NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) AGAGCACCTGAAATGTTCTCA 0.398 NA A||| 2809 0.560903 0.4372 0.585 5008 , , NA 19685 0.4613 NA 0.663 False NA ,,, NA NA NA 2504 0.7086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1 5q11.2 2013-05-22 ENSG00000177058 ENSG00000177058 153129 Solute carriers 26907 protein-coding gene gene with protein product NA Standard NM_173514 NM_173514 NA Approved FLJ90709 uc003jqf.3 Q8NBW4 OTTHUMG00000131189 ENST00000512595.1:c.32+53T>C chr5.hg19:g.54986963A>G NA B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8 hg19 CCDS58948.1 0.02 1.529025 CTGxAAT COVERED NOVEL SLC38A9-005 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000368275.1 2 38.210627 KEEP 0 0 0 127 3975 AA 1 0.992926 0 - 4 60 127 0 0 8.173066 58 60 1682 260 ENST00000512595.1 0.064516 0.992926 MAP3K1 4214 __UNKNOWN__ __UNKNOWN__ 5 56160490 56160490 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:56160490A>G ENST00000399503.3 + 4 834 NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase NA NA activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) cytosol (GO:0005829) ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270) NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) gtgagccaccatgcctgaccG 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U29671, AF042838 CCDS43318.1 5q11.2 2012-02-23 2012-02-23 ENSG00000095015 ENSG00000095015 4214 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6848 protein-coding gene gene with protein product 600982 mitogen-activated protein kinase kinase kinase 1 MEKK1 NA 8597633 Standard XM_042066 NM_005921 NA Approved MEKK, MAPKKK1 uc003jqw.4 Q13233 OTTHUMG00000059486 ENST00000399503.3:c.835-71A>G chr5.hg19:g.56160490A>G NA hg19 CCDS43318.1 0.02 -0.28937 ACCxTGC COVERED NOVEL MAP3K1-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000132309.2 2 8.424219 KEEP 1 0 0 28 850 AA 0.999997 0.760885 0 + 4 60 130 0 0 9.923715 24 60 676 79 ENST00000399503.3 0.142857 0.760887 SETD9 133383 __UNKNOWN__ __UNKNOWN__ 5 56209138 56209138 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:56209138T>C ENST00000285947.2 + 3 976 SETD9_ENST00000475908.1_Intron|SETD9_ENST00000541720.1_Intron NM_153706.3 NP_714917.2 Q8NE22 SETD9_HUMAN SET domain containing 9 NA NA methyltransferase activity (GO:0008168) NA atctcggccttccaaagtgct 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC036528 CCDS3972.1 5q11.2 2012-02-23 2012-02-23 2012-02-23 ENSG00000155542 ENSG00000155542 133383 28508 protein-coding gene gene with protein product chromosome 5 open reading frame 35 C5orf35 NA 20930037 Standard NM_153706 NM_153706 NA Approved MGC33648 uc003jqx.3 Q8NE22 OTTHUMG00000059485 ENST00000285947.2:c.590+177T>C chr5.hg19:g.56209138T>C NA F5H713 hg19 CCDS3972.1 0.02 -0.219231 CCTxCCA COVERED NOVEL SETD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132304.2 4 4.81358 KEEP 0 0 0 16 491 TT 0.997832 0.551689 0 + 3 60 97 0 0 7.149706 22 60 640 52 ENST00000285947.2 0.12 0.552887 CTD-2117L12.1 0 __UNKNOWN__ __UNKNOWN__ 5 57838017 57838017 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:57838017A>G ENST00000504333.1 - 0 560 NA NA NA agatgaacccagtacctcaga 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000504333.1:c.*164T>C chr5.hg19:g.57838017A>G NA hg19 0.02 -0.157855 CCCxGTA COVERED NOVEL CTD-2117L12.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000368870.1 0 3.609718 KEEP 0 0 0 12 357 AA 0.993634 0.320751 0 - 4 60 107 0 0 8.581388 13 60 392 32 ENST00000504333.1 0.235294 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 57854073 57854073 __UNKNOWN__ IGR SNP C C T rs560234391 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:57854073C>T NA NA CTD-2117L12.1 (3 upstream) : RAB3C (24793 downstream) NA NA NA agctgtagaccggagctgttc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.57854073C>T NA hg19 0.02 -0.324532 GACxGGA COVERED NOVEL 0 1 9.931636 KEEP 0 0 0 33 1118 CC 0.999998 0.835714 0 3 60 93 0 0 6.410266 29 60 958 97 0.09375 0.835716 SGTB 54557 __UNKNOWN__ __UNKNOWN__ 5 64964060 64964060 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:64964060A>G ENST00000381007.4 - 0 3163 NM_019072.2 NP_061945.1 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta NA NA large_intestine(3)|lung(3)|skin(3) 9 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) gattacaggcatgagccacag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096321 CCDS3988.1 5q12.3 2013-01-10 ENSG00000197860 ENSG00000197860 54557 Tetratricopeptide (TTC) repeat domain containing 23567 protein-coding gene gene with protein product NA 12477932 Standard NM_019072 XM_005248548 NA Approved Sgt2, FLJ39002 uc003jud.3 Q96EQ0 OTTHUMG00000097801 ENST00000381007.4:c.*2013T>C chr5.hg19:g.64964060A>G NA hg19 CCDS3988.1 0.02 1.874324 GGCxTGA COVERED NOVEL SGTB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215057.2 17 16.232023 KEEP 1 0 0 54 1649 AA 1 0.996724 0 - 4 60 136 0 0 8.95899 62 60 1832 182 ENST00000381007.4 0.060606 0.996724 CDK7 1022 __UNKNOWN__ __UNKNOWN__ 5 68555908 68555908 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:68555908A>G ENST00000256443.3 + 7 630 CDK7_ENST00000514676.1_Intron|CDK7_ENST00000513629.1_Intron|CDK7_ENST00000502604.1_Intron NM_001799.3 NP_001790.1 P50613 CDK7_HUMAN cyclin-dependent kinase 7 NA NA 7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032) cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713) endometrium(1)|lung(2) 3 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) aggcgcggtgactcatgcctg 0.512 NA Nucleotide excision repair (NER) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3999.1 5q12.1 2012-11-05 2007-11-21 ENSG00000134058 ENSG00000134058 1022 Cyclin-dependent kinases, General transcription factor IIH complex subunits 1778 protein-coding gene gene with protein product 601955 cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase), cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase) NA 8069918 Standard NM_001799 NM_001799 NA Approved CAK1, CDKN7, MO15, STK1, CAK uc003jvs.4 P50613 OTTHUMG00000099358 ENST00000256443.3:c.527+145A>G chr5.hg19:g.68555908A>G NA Q9BS60|Q9UE19 hg19 CCDS3999.1 0.02 -0.201708 GTGxCTC COVERED NOVEL CDK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216802.3 3 4.513311 KEEP 1 0 0 15 457 AA 0.99649 0.488823 0 + 3 60 101 0 0 7.792248 18 60 515 45 ENST00000256443.3 0.142857 0.490544 MARVELD2 153562 __UNKNOWN__ __UNKNOWN__ 5 68738873 68738873 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:68738873A>G ENST00000413223.2 + 8 1509 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 NA NA cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) agccaggatgatctcgatctc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055094 CCDS34175.1, CCDS58956.1 5q13.1 2007-05-01 2004-07-12 2004-07-14 ENSG00000152939 ENSG00000152939 153562 26401 protein-coding gene gene with protein product tricellulin 610572 MARVEL (membrane-associating) domain containing 2, deafness, autosomal recessive 49 MRVLDC2, DFNB49 NA 17186462 Standard NM_144724 NM_001038603 NA Approved FLJ30532, TRIC uc003jwq.3 Q8N4S9 OTTHUMG00000162512 ENST00000413223.2:c.1327-37A>G chr5.hg19:g.68738873A>G NA A1BQX0|A1BQX1|A8KA97|Q96NM9 hg19 0.02 -0.280646 ATGxTCT COVERED NOVEL MARVELD2-201 KNOWN basic protein_coding NA protein_coding 5 2.240716 KEEP 4 1 27 17 563 AA 0.999366 0.739203 0 + 3 60 92 0 0 6.354041 28 60 830 61 ENST00000413223.2 0.096774 0.739671 BDP1 55814 __UNKNOWN__ __UNKNOWN__ 5 70764135 70764135 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:70764135C>T ENST00000358731.4 + 6 1182 BDP1_ENST00000380675.2_Intron NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB NA NA gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) catgagccaccgcacctggcc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF298151 CCDS43328.1 5q12-q13 2008-02-05 2001-11-29 2001-11-30 ENSG00000145734 ENSG00000145734 55814 13652 protein-coding gene gene with protein product 607012 TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1 TFNR, TAF3B1 NA 11214970, 11040218 Standard NM_018429 NM_018429 NA Approved TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241 uc003kbp.1 A6H8Y1 OTTHUMG00000162506 ENST00000358731.4:c.919+821C>T chr5.hg19:g.70764135C>T NA Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9 hg19 CCDS43328.1 0.02 -0.157898 CACxGCA COVERED NOVEL BDP1-016 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000374681.2 6 2.407809 KEEP 0 0 0 8 276 CC 0.99257 0.320408 0 + 3 60 91 0 0 7.17886 13 60 433 39 ENST00000358731.4 0.1875 0.322807 POLK 51426 __UNKNOWN__ __UNKNOWN__ 5 74877784 74877784 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:74877784C>G ENST00000241436.4 + 7 1106 POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_Intron|POLK_ENST00000380481.3_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000515295.1_Intron|POLK_ENST00000508526.1_Intron NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa NA NA DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297) nucleus (GO:0005634) damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872) endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) gattacaggcctgagccaccg 0.433 NA DNA polymerases (catalytic subunits) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB027564 CCDS4030.1 5q13 2012-05-18 ENSG00000122008 ENSG00000122008 51426 DNA polymerases 9183 protein-coding gene gene with protein product polymerase (DNA-directed) kappa, DINB protein, DNA polymerase kappa 605650 DINB1 NA 10887153, 10518552 Standard NM_016218 NM_016218 NA Approved POLQ, DINP uc003kdw.3 Q9UBT6 OTTHUMG00000102107 ENST00000241436.4:c.934+511C>G chr5.hg19:g.74877784C>G NA B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5 hg19 CCDS4030.1 0.02 -0.087728 GGCxTGA UNCOVERED NOVEL POLK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219945.3 6 3.912784 KEEP 0 0 0 13 464 CC 0.994391 0.139048 0 + 3 60 105 0 0 9.443496 6 60 206 31 ENST00000241436.4 0.333333 0.139832 PDE8B 8622 __UNKNOWN__ __UNKNOWN__ 5 76719713 76719713 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:76719713T>C ENST00000264917.5 + 21 2463 PDE8B_ENST00000505283.1_Intron|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000346042.3_Intron NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B NA NA cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160) cytosol (GO:0005829) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) Caffeine(DB00201)|Ketotifen(DB00920) ccgcctgccttggcctcccaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF079529 CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1 5q14.1 2008-05-15 ENSG00000113231 ENSG00000113231 8622 3.1.4.17 Phosphodiesterases 8794 protein-coding gene gene with protein product 603390 NA 9784418 Standard NM_003719 NM_003719 NA Approved uc003kfa.3 O95263 OTTHUMG00000102170 ENST00000264917.5:c.2419-1879T>C chr5.hg19:g.76719713T>C NA Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2 hg19 CCDS4037.1 0.02 -0.1577 CCTxGGC COVERED NOVEL PDE8B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000220015.3 6 3.304423 KEEP 2 0 0 11 316 TT 0.992708 0.320453 0 + 3 60 94 0 0 7.312136 15 60 396 39 ENST00000264917.5 0.166667 0.322807 WDR41 55255 __UNKNOWN__ __UNKNOWN__ 5 76787141 76787141 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:76787141C>T ENST00000296679.4 - 1 427 WDR41_ENST00000414719.2_Intron|WDR41_ENST00000507029.1_Intron NM_018268.2 NP_060738.2 Q9HAD4 WDR41_HUMAN WD repeat domain 41 NA NA lysosomal membrane (GO:0005765) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) tacccaaatcctataaaacgg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF115511 CCDS4038.1 5q14 2013-01-09 ENSG00000164253 ENSG00000164253 55255 WD repeat domain containing 25601 protein-coding gene gene with protein product NA 12477932 Standard NM_018268 NM_018268 NA Approved FLJ10904 uc003kff.1 Q9HAD4 OTTHUMG00000102169 ENST00000296679.4:c.51+853G>A chr5.hg19:g.76787141C>T NA B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62 hg19 CCDS4038.1 0.02 -0.359324 ATCxTAT COVERED NOVEL WDR41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000220014.2 3 9.921986 KEEP 2 0 0 33 1129 CC 0.999997 0.888873 0 - 4 60 117 0 0 8.013743 35 60 1174 82 ENST00000296679.4 0.102564 0.888875 ARSB 411 __UNKNOWN__ __UNKNOWN__ 5 78074604 78074604 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:78074604T>G ENST00000264914.4 - 0 3754 NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B NA NA autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791) arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) ccagcacttttggagcccaag 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(169;563 1968 25780 26156 52266) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M32373 CCDS4043.1, CCDS43334.1 5q14.1 2013-02-14 ENSG00000113273 ENSG00000113273 411 3.1.6.1 Arylsulfatase family 714 protein-coding gene gene with protein product 611542 NA 2303452 Standard NM_000046 NM_000046 NA Approved uc003kfq.3 P15848 OTTHUMG00000108129 ENST00000264914.4:c.*1616A>C chr5.hg19:g.78074604T>G NA B2RC20|Q8N322|Q9UDI9 hg19 CCDS4043.1 0.02 -0.43807 TTTxGGA COVERED NOVEL ARSB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226932.2 9 6.619972 KEEP 0 0 0 22 684 TT 0.999879 0.959743 0 - 5 60 164 0 0 11.827156 43 60 1204 107 ENST00000264914.4 0.104167 0.959859 SERINC5 256987 __UNKNOWN__ __UNKNOWN__ 5 79446513 79446513 __UNKNOWN__ Intron SNP A A C rs113556929 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:79446513A>C ENST00000512721.1 - 9 1210 SERINC5_ENST00000509193.1_Intron|SERINC5_ENST00000512972.2_Intron|SERINC5_ENST00000507668.2_Intron NM_001174072.1 NP_001167543.1 Q86VE9 SERC5_HUMAN serine incorporator 5 NA NA myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209) L-serine transmembrane transporter activity (GO:0015194) endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) cccgcctcggactcccaaagt 0.488 NA C||| 422 0.0842652 0.3079 0.0173 5008 , , NA 16141 0.001 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF498273 CCDS54874.1 5q14.1 2014-01-28 2005-10-14 2005-10-14 ENSG00000164300 256987 18825 protein-coding gene gene with protein product 614551 chromosome 5 open reading frame 12 C5orf12 NA 12688535 Standard NM_178276 NM_178276 NA Approved TPO1 uc011ctj.2 Q86VE9 ENST00000512721.1:c.1053+191T>G chr5.hg19:g.79446513A>C NA B4DMH7|Q495A4|Q495A6 hg19 CCDS54874.1 0.02 -0.244169 CGGxCTC COVERED NOVEL SERINC5-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000369572.1 5 5.204635 KEEP 2 1 36 30 904 AA 0.999997 0.641345 0 - 4 60 131 0 0 10.399004 19 60 537 66 ENST00000512721.1 0.173913 0.641347 MSH3 4437 __UNKNOWN__ __UNKNOWN__ 5 80172159 80172159 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:80172159T>C ENST00000265081.6 + 0 3972 NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 NA NA ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447) membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634) ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) tggtggctcatgcctgtaatc 0.428 NA Mismatch excision repair (MMR) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(88;1010 1399 13793 26548 36275) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U61981 CCDS34195.1 5q11-q12 2013-09-12 2013-09-12 ENSG00000113318 ENSG00000113318 4437 7326 protein-coding gene gene with protein product Divergent upstream protein, Mismatch repair protein 1 600887 mutS (E. coli) homolog 3, mutS homolog 3 (E. coli) NA Standard NM_002439 NM_002439 NA Approved DUP, MRP1 uc003kgz.4 P20585 OTTHUMG00000162540 ENST00000265081.6:c.*478T>C chr5.hg19:g.80172159T>C NA A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867 hg19 CCDS34195.1 0.02 -0.254304 TCAxGCC COVERED NOVEL MSH3-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369471.1 6 3.911849 KEEP 1 0 0 13 408 TT 0.994391 0.664773 0 + 3 60 95 1 0 6.793186 25 60 717 55 ENST00000265081.6 0.107143 0.668523 CKMT2 1160 __UNKNOWN__ __UNKNOWN__ 5 80548620 80548620 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:80548620C>G ENST00000424301.2 + 4 497 c.259C>G c.(259-261)Ctg>Gtg p.L87V CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.L87V|CKMT2_ENST00000437669.1_Missense_Mutation_p.L87V|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 87 Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}. NA cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|creatine kinase activity (GO:0004111) breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) CGGCTACACGCTGGACCAGTG 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 129 109 116 NA NA NA 5 NA NA 80548620 2203 4300 6503 SO:0001583 missense CCDS4053.1 5q14.1 2013-09-20 ENSG00000131730 ENSG00000131730 1160 2.7.3.2 1996 protein-coding gene gene with protein product 123295 NA 2324105 Standard NM_001825 NM_001825 NA Approved SMTCK uc003khd.4 P17540 OTTHUMG00000119013 ENST00000424301.2:c.259C>G chr5.hg19:g.80548620C>G ENSP00000404203:p.Leu87Val NA Q6ICS8|Q8N1E1 hg19 CCDS4053.1 0.02 3.820992 ACGxTGG COVERED . . . . . . . . . . C 16.51 3.143229 0.57044 . . ENSG00000131730 ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060 T;T;T;T;T 0.76060 -0.99;-0.99;-0.99;-0.99;-0.99 6.04 5.17 0.71159 ATP:guanido phosphotransferase, N-terminal (4); 0.000000 0.85682 D 0.000000 T 0.79015 0.4375 M 0.90019 3.08 0.80722 D 1 B 0.22276 0.067 B 0.32583 0.148 T 0.77482 -0.2571 10 0.49607 T 0.09 -17.1254 7.8479 0.29437 0.0:0.7265:0.1341:0.1394 . 87 P17540 KCRS_HUMAN V 87 ENSP00000254035:L87V;ENSP00000423264:L87V;ENSP00000410289:L87V;ENSP00000404203:L87V;ENSP00000427635:L87V ENSP00000254035:L87V L + 1 2 CKMT2 80584376 0.107000 0.21998 0.999000 0.59377 0.670000 0.39368 0.614000 0.24314 1.557000 0.49525 0.561000 0.74099 CTG NOVEL CKMT2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369600.1 1 51.770736 KEEP 0 0 0 172 6340 CC 1 0.999992 0 + 75 60 2519 0 0 258.802436 33 60 1163 390 ENST00000424301.2 0.694444 0.999992 ARRDC3 57561 __UNKNOWN__ __UNKNOWN__ 5 90666424 90666424 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:90666424G>T ENST00000265138.3 - 0 2304 NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 NA NA fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659) endosome (GO:0005768)|plasma membrane (GO:0005886) beta-3 adrenergic receptor binding (GO:0031699) breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) ATGCTGCTTTGCTGTAATAGT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037797 CCDS34202.1 5q14.3 2013-10-11 ENSG00000113369 ENSG00000113369 57561 29263 protein-coding gene gene with protein product alpha-arrestin 3 612464 NA 10718198, 19605364 Standard NM_020801 NM_020801 NA Approved KIAA1376 uc003kjz.2 Q96B67 OTTHUMG00000162616 ENST00000265138.3:c.*793C>A chr5.hg19:g.90666424G>T NA A8K6T8|Q9P2H1 hg19 CCDS34202.1 0.02 -0.236817 TTTxCTG COVERED NOVEL ARRDC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369763.2 6 8.728671 KEEP 0 0 0 29 1039 GG 0.999997 0.612405 0 - 4 60 98 0 0 6.795711 23 60 770 65 ENST00000265138.3 0.148148 0.612407 NR2F1-AS1 441094 __UNKNOWN__ __UNKNOWN__ 5 92880368 92880368 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:92880368G>A ENST00000607797.1 - 0 1229 NR2F1-AS1_ENST00000504474.1_RNA|NR2F1-AS1_ENST00000606233.1_RNA|NR2F1-AS1_ENST00000606739.1_RNA|NR2F1-AS1_ENST00000607831.1_RNA|NR2F1-AS1_ENST00000606696.1_RNA|NR2F1-AS1_ENST00000510254.1_RNA NR_015369.1 NR2F1 antisense RNA 1 NA NA NA agtggctcacgcctgtaatcc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC010610, DA718791 5q15 2013-05-28 2013-05-28 2013-05-28 ENSG00000237187 ENSG00000237187 441094 Long non-coding RNAs 48622 non-coding RNA RNA, long non-coding NA 23583100 Standard NR_021490 NR_109824 NA Approved FLJ42709 OTTHUMG00000162643 ENST00000607797.1: chr5.hg19:g.92880368G>A NA hg19 0.02 -0.210526 CACxCCT COVERED NOVEL NR2F1-AS1-008 KNOWN basic antisense NA processed_transcript OTTHUMT00000369870.2 7 2.708692 KEEP 0 0 0 9 319 GG 0.99254 0.518266 0 - 3 60 90 0 0 6.761209 17 60 566 54 ENST00000607797.1 0.15 0.522161 KIAA0825 285600 __UNKNOWN__ __UNKNOWN__ 5 93942002 93942002 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:93942002A>G ENST00000329378.7 - 1 98 KIAA0825_ENST00000513200.3_Intron|KIAA0825_ENST00000312498.7_Intron NM_173665.2 NP_775936.1 Q8IV33 K0825_HUMAN KIAA0825 NA NA breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 tcatggatagaaagaatcaat 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648338 CCDS4070.1 5q15 2011-02-23 2011-02-23 2011-02-23 ENSG00000185261 ENSG00000185261 285600 28532 protein-coding gene gene with protein product chromosome 5 open reading frame 36 C5orf36 NA 12477932 Standard NM_173665 NM_173665 NA Approved DKFZp686F0372, MGC34713 uc011cuk.2 Q8IV33 OTTHUMG00000131331 ENST00000329378.7:c.151+12202T>C chr5.hg19:g.93942002A>G NA O94914|Q6ZNN2 hg19 CCDS4070.1 0.02 -0.271827 TAGxAAG COVERED NOVEL KIAA0825-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371180.2 5 3.309877 KEEP 0 0 0 11 342 AA 0.993072 0.712346 0 - 3 60 98 0 0 6.953617 28 60 786 56 ENST00000329378.7 0.096774 0.717315 TTC37 9652 __UNKNOWN__ __UNKNOWN__ 5 94876897 94876897 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:94876897C>T ENST00000358746.2 - 7 701 NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327) breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 ctcgaactcccgacctcaggt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002370 CCDS4072.1 5q15 2014-09-17 2008-06-11 2008-06-11 ENSG00000198677 ENSG00000198677 9652 Tetratricopeptide (TTC) repeat domain containing 23639 protein-coding gene gene with protein product 614589 KIAA0372 KIAA0372 NA 9205841 Standard NM_014639 NM_014639 NA Approved uc003klb.3 Q6PGP7 OTTHUMG00000121165 ENST00000358746.2:c.402+111G>A chr5.hg19:g.94876897C>T NA O15077|Q6PJI3 hg19 CCDS4072.1 0.02 -0.245578 TCCxGAC COVERED NOVEL TTC37-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241651.1 2 3.912741 KEEP 0 0 0 13 458 CC 0.994391 0.63775 0 - 4 60 101 0 0 7.028044 24 60 788 52 ENST00000358746.2 0.142857 0.641347 ARSK 153642 __UNKNOWN__ __UNKNOWN__ 5 94939366 94939366 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:94939366G>C ENST00000380009.4 + 0 1952 NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K NA NA cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) gtaatcccaggactttgggag 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4073.1 5q15 2013-02-14 2006-03-07 ENSG00000164291 ENSG00000164291 153642 Arylsulfatase family 25239 protein-coding gene gene with protein product 610011 arylsulfatase K NA 12975309, 16174644 Standard NM_198150 NM_198150 NA Approved DKFZp313G1735, TSULF uc003kld.3 Q6UWY0 OTTHUMG00000121166 ENST00000380009.4:c.*136G>C chr5.hg19:g.94939366G>C NA A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8 hg19 CCDS4073.1 0.02 -0.298239 CAGxACT COVERED NOVEL ARSK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241652.2 8 3.31061 KEEP 0 0 0 11 372 GG 0.993072 0.775649 0 + 3 60 108 0 0 7.996895 27 60 874 58 ENST00000380009.4 0.1 0.78106 CAST 831 __UNKNOWN__ __UNKNOWN__ 5 96104068 96104068 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:96104068T>A ENST00000508579.1 + 15 1453 CAST_ENST00000325674.7_Intron|CAST_ENST00000510756.1_Intron|CAST_ENST00000508608.1_Intron|CAST_ENST00000508830.1_Intron|CAST_ENST00000338252.3_Intron|CAST_ENST00000341926.3_Intron|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000515663.1_Intron|CAST_ENST00000511782.1_Intron|CAST_ENST00000504465.1_Intron|CAST_ENST00000511049.1_Intron|CAST_ENST00000359176.4_Intron|CAST_ENST00000509903.1_Intron|CAST_ENST00000395812.2_Intron|CAST_ENST00000395813.1_Intron|CAST_ENST00000348386.3_Intron|CAST_ENST00000309190.5_Intron P20810 ICAL_HUMAN calpastatin NA NA negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020) cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) gattacaggcttgagccactg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 21 22 NA NA NA 5 NA NA 96104068 691 1591 2282 SO:0001627 intron_variant AF327443 CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1 5q15 2012-09-20 ENSG00000153113 ENSG00000153113 831 1515 protein-coding gene gene with protein product 114090 NA 8340353, 14685690, 15820218 Standard NM_173062 NM_173060 NA Approved uc003klx.3 P20810 OTTHUMG00000128413 ENST00000508579.1:c.1164+365T>A chr5.hg19:g.96104068T>A NA B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5 hg19 0.02 3.096393 GGCxTGA COVERED NOVEL CAST-037 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000370573.2 13 22.86713 KEEP 0 0 0 76 2366 TT 1 0.999989 0 + 6 60 177 0 0 10.828927 90 60 2703 249 ENST00000508579.1 0.0625 0.999989 ERAP2 64167 __UNKNOWN__ __UNKNOWN__ 5 96253348 96253348 __UNKNOWN__ 3'UTR SNP C C T rs375953006 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:96253348C>T ENST00000437043.3 + 0 3633 CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_3'UTR NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 NA NA antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217) endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) cggtggctcacgcctgtaatc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 17 18 17 NA NA NA 5 NA NA 96253348 2156 4271 6427 SO:0001624 3_prime_UTR_variant AF191545 CCDS4086.1 5q15 2007-11-21 ENSG00000164308 ENSG00000164308 64167 29499 protein-coding gene gene with protein product leukocyte-derived arginine aminopeptidase 609497 NA 12799365, 15908954 Standard NM_022350 NM_022350 NA Approved L-RAP, LRAP uc003kmt.3 Q6P179 OTTHUMG00000128718 ENST00000437043.3:c.*39C>T chr5.hg19:g.96253348C>T NA Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2 hg19 CCDS4086.1 0.02 5.94076 TCAxGCC COVERED NOVEL ERAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250623.2 33 39.171946 KEEP 3 2 62 152 5080 CC 1 1 0 + 8 60 239 1 0 12.731634 218 60 7209 579 ENST00000437043.3 0.035398 1 LNPEP 4012 __UNKNOWN__ __UNKNOWN__ 5 96295830 96295830 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:96295830T>C ENST00000231368.5 + 2 711 LNPEP_ENST00000395770.3_Intron NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508) cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) ttagtagagatggggtttcac 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50810 CCDS4087.1, CCDS43346.1 5q15 2011-07-25 ENSG00000113441 ENSG00000113441 4012 3.4.11.3 6656 protein-coding gene gene with protein product cystinyl aminopeptidase, placental leucine aminopeptidase 151300 NA 8550619 Standard NM_005575 NM_175920 NA Approved CAP, PLAP, P-LAP uc003kmw.1 Q9UIQ6 OTTHUMG00000128719 ENST00000231368.5:c.20-19012T>C chr5.hg19:g.96295830T>C NA O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7 hg19 CCDS4087.1 0.02 -0.201661 AGAxGGG COVERED NOVEL LNPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250624.1 2 3.30737 KEEP 3 0 0 11 317 TT 0.992708 0.486967 0 + 3 40 94 0 1 6.96594 20 60 549 43 ENST00000231368.5 0.130435 0.490544 LNPEP 4012 __UNKNOWN__ __UNKNOWN__ 5 96366309 96366309 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:96366309C>T ENST00000231368.5 + 0 5842 NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508) cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) CATTtctctccctctctctct 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D50810 CCDS4087.1, CCDS43346.1 5q15 2011-07-25 ENSG00000113441 ENSG00000113441 4012 3.4.11.3 6656 protein-coding gene gene with protein product cystinyl aminopeptidase, placental leucine aminopeptidase 151300 NA 8550619 Standard NM_005575 NM_175920 NA Approved CAP, PLAP, P-LAP uc003kmw.1 Q9UIQ6 OTTHUMG00000128719 ENST00000231368.5:c.*2072C>T chr5.hg19:g.96366309C>T NA O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7 hg19 CCDS4087.1 0.02 -0.323437 CTCxCTC COVERED NOVEL LNPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250624.1 5 3.56379 KEEP 1 0 0 12 351 CC 0.993072 0.846082 0 + 4 58 113 0 1 7.819692 31 60 954 56 ENST00000231368.5 0.114286 0.851984 CTD-2215E18.1 0 __UNKNOWN__ __UNKNOWN__ 5 96429429 96429429 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:96429429T>G ENST00000509481.1 + 1 130 LIX1_ENST00000274382.4_3'UTR NA NA urinary_tract(1) 1 TATCCTTCCTTTAAAGAAGAT 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000509481.1:c.-412+4521T>G chr5.hg19:g.96429429T>G NA hg19 0.02 3.595825 CCTxTAA COVERED NOVEL CTD-2215E18.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000370857.1 17 18.956239 KEEP 0 0 0 63 1994 TT 1 0.999995 0 + 10 60 314 0 0 21.589223 101 60 2975 237 ENST00000509481.1 0.09009 0.999995 PPIP5K2 23262 __UNKNOWN__ __UNKNOWN__ 5 102494375 102494375 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:102494375T>C ENST00000321521.9 + 16 2310 PPIP5K2_ENST00000414217.1_Intron|PPIP5K2_ENST00000513500.1_Intron|PPIP5K2_ENST00000358359.3_Intron O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 NA NA inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 cctgtaatcctagcactttgg 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007893 CCDS34207.1, CCDS64212.1, CCDS75283.1 5q21.1 2014-05-06 2010-01-26 2010-01-26 ENSG00000145725 ENSG00000145725 23262 2.7.4.24 29035 protein-coding gene gene with protein product 611648 histidine acid phosphatase domain containing 1 HISPPD1 NA 9455477, 17690096, 18981179 Standard NM_015216 NM_001276277 NA Approved KIAA0433, VIP2 uc003koe.4 O43314 OTTHUMG00000181461 ENST00000321521.9:c.1737+98T>C chr5.hg19:g.102494375T>C NA A1NI53|A6NGS8|Q8TB50 hg19 CCDS34207.1 0.02 -0.245213 TCCxAGC COVERED NOVEL PPIP5K2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370485.2 4 3.609693 KEEP 0 0 0 12 351 TT 0.993634 0.637264 0 + 3 60 103 0 0 7.751221 22 60 609 48 ENST00000321521.9 0.12 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 105092705 105092705 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:105092705C>T NA NA RP11-6N13.1 (364034 upstream) : RNA5SP189 (165989 downstream) NA NA NA ggccaggagtctgagaccagc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.105092705C>T NA hg19 0.02 -0.184191 AGTxTGA COVERED NOVEL 0 10 3.008132 KEEP 0 0 0 10 348 CC 0.992708 0.42039 0 4 60 109 0 0 8.563353 15 60 502 46 0.210526 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 106529234 106529234 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:106529234A>G NA NA CTC-254B4.1 (212664 upstream) : EFNA5 (183355 downstream) NA NA NA tgatccgcccacctcggcctc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.106529234A>G NA hg19 0.02 -0.245558 CCCxCCT UNCOVERED NOVEL 0 16 2.70817 KEEP 8 0 0 9 280 AA 0 0 0 3 60 98 0 0 7.093728 25 60 731 65 0.107143 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 110191134 110191134 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:110191134T>C NA NA SLC25A46 (90277 upstream) : CTC-551A13.1 (115515 downstream) NA NA NA ccacttcagcttcccaaagtg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.110191134T>C NA hg19 0.02 -0.175404 AGCxTCC COVERED NOVEL 0 2 2.407617 KEEP 0 0 0 8 266 TT 0.99257 0.384528 0 3 60 100 0 0 8.079109 13 60 391 45 0.1875 0.387407 CAMK4 814 __UNKNOWN__ __UNKNOWN__ 5 110819844 110819844 __UNKNOWN__ Missense_Mutation SNP G G T rs376502428 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:110819844G>T ENST00000282356.4 + 11 1500 c.1102G>T c.(1102-1104)Gac>Tac p.D368Y CAMK4_ENST00000512453.1_Missense_Mutation_p.D368Y|CAMK4_ENST00000512890.1_3'UTR NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 368 NA activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TGGCAACGAGGACATGAAAGC 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 68 70 69 NA NA NA 5 NA NA 110819844 2202 4300 6502 SO:0001583 missense D30742 CCDS4103.1 5q22.1 2012-09-20 ENSG00000152495 ENSG00000152495 814 2.7.11.17 1464 protein-coding gene gene with protein product brain Ca++-calmodulin-dependent protein kinase type IV, calcium/calmodulin-dependent protein kinase type IV catalytic chain, CAM kinase IV, CAM kinase- GR 114080 NA 2536634 Standard NM_001744 NM_001744 NA Approved CaMK-GR uc003kpf.3 Q16566 OTTHUMG00000128792 ENST00000282356.4:c.1102G>T chr5.hg19:g.110819844G>T ENSP00000282356:p.Asp368Tyr NA D3DSZ7 hg19 CCDS4103.1 0.02 1.173007 GAGxACA COVERED . . . . . . . . . . G 11.96 1.795804 0.31777 . . ENSG00000152495 ENST00000512453;ENST00000282356 T;T 0.68765 -0.35;-0.35 4.47 -0.226 0.13106 . 0.807665 0.10827 N 0.629815 T 0.40886 0.1135 N 0.08118 0 0.09310 N 1 P 0.39576 0.679 B 0.35413 0.202 T 0.29119 -1.0022 10 0.72032 D 0.01 . 6.9571 0.24578 0.2706:0.1316:0.5979:0.0 . 368 Q16566 KCC4_HUMAN Y 368 ENSP00000422634:D368Y;ENSP00000282356:D368Y ENSP00000282356:D368Y D + 1 0 CAMK4 110847743 0.006000 0.16342 0.000000 0.03702 0.005000 0.04900 1.109000 0.31135 0.015000 0.14971 0.591000 0.81541 GAC NOVEL CAMK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250719.2 1 16.854377 KEEP 0 0 0 56 1938 GG 1 0.999407 0 + 26 60 727 0 0 63.024563 55 60 1766 200 ENST00000282356.4 0.320988 0.999407 SRP19 6728 __UNKNOWN__ __UNKNOWN__ 5 112204349 112204349 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:112204349A>G ENST00000505459.1 + 0 1705 CTC-487M23.8_ENST00000506997.1_Intron|CTC-487M23.8_ENST00000512790.1_Intron NM_001204193.1|NM_003135.2 NP_001191122.1|NP_003126.1 P09132 SRP19_HUMAN signal recognition particle 19kDa NA NA cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|large_intestine(1) 3 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) tgcccacctcagcctcccaaa 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1 5q21-q22 2008-07-18 2002-08-29 ENSG00000153037 ENSG00000153037 6728 11300 protein-coding gene gene with protein product 182175 signal recognition particle 19kD NA 2460823 Standard NM_003135 NM_003135 NA Approved uc011cvu.2 P09132 OTTHUMG00000128805 ENST00000505459.1:c.*1115A>G chr5.hg19:g.112204349A>G NA B2R4E9|D6RCQ5|Q05D77|Q96FG6 hg19 CCDS4108.1 0.02 -0.350802 CTCxGCC COVERED NOVEL SRP19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250737.3 12 5.416311 KEEP 3 0 0 18 566 AA 0.999366 0.917589 0 + 3 41 96 1 0 6.551694 33 60 981 77 ENST00000505459.1 0.083333 0.918171 CTC-487M23.8 0 __UNKNOWN__ __UNKNOWN__ 5 112209820 112209820 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:112209820G>A ENST00000506997.1 + 3 294 CTC-487M23.8_ENST00000512790.1_Intron NA NA NA ttgtgatcatgccactgcact 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000506997.1:c.129+9595G>A chr5.hg19:g.112209820G>A NA hg19 0.02 -0.122809 CATxCCA COVERED NOVEL CTC-487M23.8-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000472155.1 9 2.705288 KEEP 0 0 0 9 310 GG 0.99254 0.194847 0 + 3 60 86 0 0 6.98185 10 60 342 33 ENST00000506997.1 0.230769 0.196312 REEP5 7905 __UNKNOWN__ __UNKNOWN__ 5 112228877 112228877 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:112228877T>C ENST00000513339.1 - 3 388 REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron Q00765 REEP5_HUMAN receptor accessory protein 5 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) gaggctgaggtgggtggatca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000232 CCDS4109.2 5q22-q23 2008-02-05 2006-02-07 2006-02-07 ENSG00000129625 ENSG00000129625 7905 Receptor accessory proteins 30077 protein-coding gene gene with protein product deleted in polyposis 1, polyposis locus protein 1, polyposis coli region hypothetical protein DP1 125265 chromosome 5 open reading frame 18 C5orf18 NA 16271481, 15550249 Standard NM_005669 NM_005669 NA Approved DP1, TB2, D5S346 uc003kqe.1 Q00765 OTTHUMG00000128807 ENST00000513339.1:c.351+9199A>G chr5.hg19:g.112228877T>C NA B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9 hg19 0.02 -0.228042 AGGxGGG COVERED NOVEL REEP5-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000370775.2 6 5.715464 KEEP 0 0 0 19 566 TT 0.99986 0.582848 0 - 3 60 96 0 0 7.04948 22 60 664 46 ENST00000513339.1 0.12 0.58293 MCC 4163 __UNKNOWN__ __UNKNOWN__ 5 112411874 112411874 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:112411874A>G ENST00000408903.3 - 12 2200 MCC_ENST00000515367.2_Intron|MCC_ENST00000302475.4_Intron|MCC_ENST00000514701.3_Intron NM_001085377.1 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) receptor activity (GO:0004872) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ccaaatctacatctgattggt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4111.1, CCDS43351.1 5q21-q22 2013-01-10 ENSG00000171444 ENSG00000171444 4163 EF-hand domain containing 6935 protein-coding gene gene with protein product 159350 NA 1848370 Standard NM_001085377 NM_002387 NA Approved uc003kql.4 P23508 OTTHUMG00000128804 ENST00000408903.3:c.1785-4943T>C chr5.hg19:g.112411874A>G NA D3DT05|Q6ZR04 hg19 CCDS43351.1 0.02 -0.10522 TACxTCT UNCOVERED NOVEL MCC-003 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370839.1 4 2.708337 KEEP 0 0 0 9 287 AA 0.99254 0.138789 0 - 3 60 99 0 0 8.844458 6 60 167 33 ENST00000408903.3 0.333333 0.139832 MCC 4163 __UNKNOWN__ __UNKNOWN__ 5 112411886 112411886 __UNKNOWN__ Intron SNP G G T rs111820830 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:112411886G>T ENST00000408903.3 - 12 2200 MCC_ENST00000515367.2_Intron|MCC_ENST00000302475.4_Intron|MCC_ENST00000514701.3_Intron NM_001085377.1 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) receptor activity (GO:0004872) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgattggtggacctgaaagt 0.488 NA T||| 6 0.00119808 0.0045 0 5008 , , NA 22127 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4111.1, CCDS43351.1 5q21-q22 2013-01-10 ENSG00000171444 ENSG00000171444 4163 EF-hand domain containing 6935 protein-coding gene gene with protein product 159350 NA 1848370 Standard NM_001085377 NM_002387 NA Approved uc003kql.4 P23508 OTTHUMG00000128804 ENST00000408903.3:c.1785-4955C>A chr5.hg19:g.112411886G>T NA D3DT05|Q6ZR04 hg19 CCDS43351.1 0.02 -0.096475 GTGxACC UNCOVERED NOVEL MCC-003 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370839.1 4 2.706639 KEEP 0 0 0 9 307 GG 0.99254 0.138789 0 - 3 60 85 0 0 7.443004 6 60 194 32 ENST00000408903.3 0.333333 0.139832 PGGT1B 5229 __UNKNOWN__ __UNKNOWN__ 5 114547477 114547477 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:114547477C>T ENST00000419445.1 - 0 1776 NM_005023.3 NP_005014.2 P53609 PGTB1_HUMAN protein geranylgeranyltransferase type I, beta subunit NA NA negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097) CAAX-protein geranylgeranyltransferase complex (GO:0005953) CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) CAAACAATCTCCTTTTAGAAA 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4116.1 5q23.1 2008-02-05 ENSG00000164219 ENSG00000164219 5229 8895 protein-coding gene gene with protein product 602031 NA 8106351 Standard NM_005023 NM_005023 NA Approved GGTI, BGGI uc003kqw.4 P53609 OTTHUMG00000128893 ENST00000419445.1:c.*622G>A chr5.hg19:g.114547477C>T NA Q5MJP9 hg19 CCDS4116.1 0.02 2.982201 TCTxCTT COVERED NOVEL PGGT1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250855.2 7 39.1551 KEEP 7 1 25 139 4740 CC 1 0.999996 0 - 6 60 190 0 0 11.663725 108 60 3529 342 ENST00000419445.1 0.052632 0.999996 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 114689332 114689332 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:114689332A>T NA NA CCDC112 (56804 upstream) : FEM1C (167275 downstream) NA NA NA aggcctcaggaggtcctgaga 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.114689332A>T NA hg19 0.02 -0.201688 AGGxGGT COVERED NOVEL 0 2 3.310534 KEEP 0 0 0 11 367 AA 0.993072 0.487146 0 8 60 224 0 0 19.953208 14 60 417 47 0.363636 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 117329069 117329069 __UNKNOWN__ IGR SNP T T C rs142191011|rs13170927|rs370687978 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:117329069T>C NA NA LINC00992 (514006 upstream) : CTD-3179P9.1 (194092 downstream) NA NA NA cacacacacatatatatacat 0.318 NA t||| 531 0.10603 0.2867 0.0504 5008 , , NA 14967 0.0446 NA 0.0328 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.117329069T>C NA hg19 0.02 -0.359456 ACAxATA COVERED NOVEL 0 4 6.919133 KEEP 0 0 0 23 702 TT 0.999892 0.888779 0 3 60 98 0 0 6.574501 38 60 1052 80 0.073171 0.888875 DTWD2 285605 __UNKNOWN__ __UNKNOWN__ 5 118178537 118178537 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:118178537G>T ENST00000510708.1 - 6 760 DTWD2_ENST00000304058.4_Intron|DTWD2_ENST00000515439.3_Intron NM_173666.2 NP_775937.1 Q8NBA8 DTWD2_HUMAN DTW domain containing 2 NA NA breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) agctactcgggaggctgaggc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34216.1 5q23.1 2008-02-05 ENSG00000169570 ENSG00000169570 285605 19334 protein-coding gene gene with protein product NA Standard NM_173666 NM_173666 NA Approved FLJ33977 uc003ksa.3 Q8NBA8 OTTHUMG00000162956 ENST00000510708.1:c.727-1755C>A chr5.hg19:g.118178537G>T NA hg19 CCDS34216.1 0.02 -0.192976 CGGxAGG COVERED NOVEL DTWD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371167.2 6 2.708819 KEEP 1 0 0 9 315 GG 0.99254 0.454342 0 - 3 60 85 0 0 6.334062 16 60 533 41 ENST00000510708.1 0.157895 0.457757 DMXL1 1657 __UNKNOWN__ __UNKNOWN__ 5 118533709 118533709 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:118533709T>A ENST00000311085.8 + 32 7825 DMXL1_ENST00000539542.1_Intron NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 NA NA breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) tttgagatggtgtctcgctct 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ005821 CCDS4125.1, CCDS75289.1 5q22 2013-01-10 ENSG00000172869 ENSG00000172869 1657 WD repeat domain containing 2937 protein-coding gene gene with protein product 605671 NA 10708522 Standard NM_005509 NM_005509 NA Approved uc003ksd.2 Q9Y485 OTTHUMG00000128898 ENST00000311085.8:c.7745+58T>A chr5.hg19:g.118533709T>A NA hg19 CCDS4125.1 0.02 -0.420614 TGGxGTC COVERED NOVEL DMXL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250862.1 5 2.307345 KEEP 1 3 80 36 1108 TT 1 0.959859 0 + 5 60 126 0 0 8.444532 36 60 1037 98 ENST00000311085.8 0.121951 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 120491826 120491826 __UNKNOWN__ IGR SNP A A G rs554442027 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:120491826A>G NA NA CTD-2334D19.1 (365353 upstream) : CTC-546K23.1 (166422 downstream) NA NA NA acgaggtcagaagatcaagac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.120491826A>G NA hg19 0.02 -0.184092 CAGxAGA COVERED NOVEL 0 2 2.407457 KEEP 0 0 0 8 258 AA 0.99257 0.420331 0 3 60 93 0 0 7.13481 16 60 429 45 0.157895 0.423478 SRFBP1 153443 __UNKNOWN__ __UNKNOWN__ 5 121364251 121364251 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:121364251A>G ENST00000339397.4 + 0 2792 SRFBP1_ENST00000504881.1_Intron NM_152546.2 NP_689759.2 serum response factor binding protein 1 NA NA central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) gcagtgagccaagattgcacc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK058015 CCDS43354.1 5q23.1 2006-12-21 ENSG00000151304 153443 26333 protein-coding gene gene with protein product BUD22 homolog (S. cerevisiae) 610479 NA 15492011 Standard NM_152546 NM_152546 NA Approved FLJ25286, p49, STRAP, BUD22, Rlb1 uc003kst.1 Q8NEF9 ENST00000339397.4:c.*1430A>G chr5.hg19:g.121364251A>G NA hg19 CCDS43354.1 0.02 -0.403245 GCCxAGA COVERED NOVEL SRFBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371200.1 3 4.213035 KEEP 0 0 0 14 447 AA 0.995343 0.93014 0 + 4 60 118 0 0 8.06698 36 60 1035 90 ENST00000339397.4 0.1 0.934492 SRFBP1 153443 __UNKNOWN__ __UNKNOWN__ 5 121364256 121364256 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:121364256T>C ENST00000339397.4 + 0 2797 SRFBP1_ENST00000504881.1_Intron NM_152546.2 NP_689759.2 serum response factor binding protein 1 NA NA central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) gagccaagattgcaccactgc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK058015 CCDS43354.1 5q23.1 2006-12-21 ENSG00000151304 153443 26333 protein-coding gene gene with protein product BUD22 homolog (S. cerevisiae) 610479 NA 15492011 Standard NM_152546 NM_152546 NA Approved FLJ25286, p49, STRAP, BUD22, Rlb1 uc003kst.1 Q8NEF9 ENST00000339397.4:c.*1435T>C chr5.hg19:g.121364256T>C NA hg19 CCDS43354.1 0.02 -0.394551 GATxGCA COVERED NOVEL SRFBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371200.1 3 4.211216 KEEP 0 0 0 14 402 TT 0.995343 0.922325 0 + 4 60 118 0 0 8.022078 37 60 1003 94 ENST00000339397.4 0.097561 0.92664 ZNF608 57507 __UNKNOWN__ __UNKNOWN__ 5 123973664 123973664 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:123973664T>A ENST00000306315.5 - 9 4968 ZNF608_ENST00000513985.1_Intron|ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 NA NA metal ion binding (GO:0046872) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) gttttttgagtcggagttttg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 143 121 128 NA NA NA 5 NA NA 123973664 692 1591 2283 SO:0001627 intron_variant AB033107 CCDS34219.1 5q23.2 2008-05-02 ENSG00000168916 ENSG00000168916 57507 Zinc fingers, C2H2-type 29238 protein-coding gene gene with protein product NA 10574462, 10508479 Standard XM_114432 NM_020747 NA Approved KIAA1281, DKFZp434M098, NY-REN-36 uc003ktq.1 Q9ULD9 OTTHUMG00000162999 ENST00000306315.5:c.4533-65A>T chr5.hg19:g.123973664T>A NA A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1 hg19 CCDS34219.1 0.02 2.815768 GAGxCGG COVERED NOVEL ZNF608-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371300.1 19 19.958738 KEEP 0 3 96 100 3149 TT 1 1 0 - 7 60 213 1 0 13.039805 114 60 3410 306 ENST00000306315.5 0.057851 1 PHAX 51808 __UNKNOWN__ __UNKNOWN__ 5 125961447 125961447 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:125961447A>G ENST00000297540.4 + 0 2791 NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export NA NA gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387) cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) RNA binding (GO:0003723)|toxic substance binding (GO:0015643) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 aggctggagtacagtggcagg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023255 CCDS4138.1 5q23.2 2011-05-24 2008-10-01 2008-10-01 ENSG00000164902 ENSG00000164902 51808 10241 protein-coding gene gene with protein product 604924 RNA U, small nuclear RNA export adaptor (phosphorylation regulated) RNUXA NA 10786834 Standard NM_032177 NM_032177 NA Approved FLJ13193 uc003kua.2 Q9H814 OTTHUMG00000163273 ENST00000297540.4:c.*911A>G chr5.hg19:g.125961447A>G NA Q9H8W1 hg19 CCDS4138.1 0.02 1.664057 AGTxCAG COVERED NOVEL PHAX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250924.1 16 7.216818 KEEP 0 0 0 24 689 AA 0.999909 0.999817 0 + 8 60 254 1 1 17.626621 79 60 2164 147 ENST00000297540.4 0.091954 0.999907 PHAX 51808 __UNKNOWN__ __UNKNOWN__ 5 125962042 125962042 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:125962042C>T ENST00000297540.4 + 0 3386 NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export NA NA gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387) cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) RNA binding (GO:0003723)|toxic substance binding (GO:0015643) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 tcccagcactctgggaggctg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023255 CCDS4138.1 5q23.2 2011-05-24 2008-10-01 2008-10-01 ENSG00000164902 ENSG00000164902 51808 10241 protein-coding gene gene with protein product 604924 RNA U, small nuclear RNA export adaptor (phosphorylation regulated) RNUXA NA 10786834 Standard NM_032177 NM_032177 NA Approved FLJ13193 uc003kua.2 Q9H814 OTTHUMG00000163273 ENST00000297540.4:c.*1506C>T chr5.hg19:g.125962042C>T NA Q9H8W1 hg19 CCDS4138.1 0.02 -0.333333 ACTxTGG COVERED NOVEL PHAX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250924.1 9 3.310963 KEEP 0 0 0 11 404 CC 0.993072 0.846082 0 + 4 60 115 0 0 8.176625 28 60 923 57 ENST00000297540.4 0.125 0.851984 CDC42SE2 56990 __UNKNOWN__ __UNKNOWN__ 5 130727103 130727103 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:130727103A>G ENST00000503291.1 + 5 836 CDC42SE2_ENST00000505065.1_3'UTR|CDC42SE2_ENST00000360515.3_Intron|CDC42SE2_ENST00000395246.1_Intron Q9NRR3 C42S2_HUMAN CDC42 small effector 2 NA NA phagocytosis (GO:0006909)|regulation of cell shape (GO:0008360)|regulation of signal transduction (GO:0009966) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) structural molecule activity (GO:0005198) breast(1)|large_intestine(1)|skin(1) 3 all_cancers(142;0.0525)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ggtggctcacacctgtaatcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF189692 CCDS34224.1 5q31.1 2008-02-05 ENSG00000158985 56990 18547 protein-coding gene gene with protein product NA 10816584 Standard NM_020240 NM_020240 NA Approved FLJ21967, SPEC2 uc003kvj.3 Q9NRR3 ENST00000503291.1:c.171+302A>G chr5.hg19:g.130727103A>G NA B2R622|Q4KMT9 hg19 0.02 5.827958 CACxCCT COVERED NOVEL CDC42SE2-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000370100.1 32 9.223164 KEEP 1 6 213 105 3094 AA 1 1 0 + 7 60 242 0 0 15.262803 143 60 4163 374 ENST00000503291.1 0.046667 1 AC034220.3 0 __UNKNOWN__ __UNKNOWN__ 5 131696449 131696449 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:131696449A>G ENST00000417795.1 - 0 380 NR_037898.1 NA NA NA gattacaggcatgagccactg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000417795.1: chr5.hg19:g.131696449A>G NA hg19 0.02 -0.263132 GGCxTGA COVERED NOVEL AC034220.3-001 KNOWN basic antisense NA processed_transcript OTTHUMT00000132650.1 6 2.707813 KEEP 6 0 0 9 278 AA 0.99257 0.688515 0 - 3 60 106 0 0 7.843672 26 60 784 66 ENST00000417795.1 0.103448 0.693668 SHROOM1 134549 __UNKNOWN__ __UNKNOWN__ 5 132158290 132158290 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:132158290T>C ENST00000378679.3 - 0 3561 SHROOM1_ENST00000319854.3_3'UTR NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 NA NA actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902) cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460) actin filament binding (GO:0051015) endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ctcctgaccttgtgatccgcc 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF314142 CCDS4161.1, CCDS54902.1 5q31.1 2007-05-03 ENSG00000164403 ENSG00000164403 134549 24084 protein-coding gene gene with protein product 611179 NA 11853319, 16615870 Standard NM_133456 NM_133456 NA Approved APXL2, KIAA1960 uc003kxy.2 Q2M3G4 OTTHUMG00000059835 ENST00000378679.3:c.*198A>G chr5.hg19:g.132158290T>C NA B7WP40|B7ZL01|Q8TDP0|Q8TF41 hg19 CCDS54902.1 0.02 3.268973 CCTxGTG COVERED NOVEL SHROOM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000133033.1 5 9.324279 KEEP 9 0 0 31 889 TT 0.999997 0.999978 0 - 7 60 215 0 1 13.777515 95 60 2484 168 ENST00000378679.3 0.068627 0.999981 PPP2CA 5515 __UNKNOWN__ __UNKNOWN__ 5 133536849 133536849 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:133536849C>T ENST00000481195.1 - 4 767 CTD-2410N18.5_ENST00000519718.1_Intron NM_002715.2 NP_002706.1 P67775 PP2AA_HUMAN protein phosphatase 2, catalytic subunit, alpha isozyme NA NA apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932) chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Vitamin E(DB00163) atgcctgtaaccccagcactt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4173.1 5q31.1 2013-01-24 2010-03-05 ENSG00000113575 ENSG00000113575 5515 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase, catalytic subunits 9299 protein-coding gene gene with protein product protein phosphatase 2A catalytic subunit, alpha isoform 176915 protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform NA 8383590 Standard NM_002715 NM_002715 NA Approved PP2Calpha P67775 OTTHUMG00000129119 ENST00000481195.1:c.487-84G>A chr5.hg19:g.133536849C>T NA P05323|P13197 hg19 CCDS4173.1 0.02 1.54642 TAAxCCC COVERED NOVEL PPP2CA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251165.1 7 6.153414 KEEP 0 1 33 32 1092 CC 0.999998 0.990962 0 - 5 60 139 0 0 9.192516 46 60 1508 115 ENST00000481195.1 0.098039 0.990964 UBE2B 7320 __UNKNOWN__ __UNKNOWN__ 5 133727594 133727594 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:133727594C>T ENST00000265339.2 + 0 2426 NM_003337.2 NP_003328.1 P63146 UBE2B_HUMAN ubiquitin-conjugating enzyme E2B NA NA canonical Wnt signaling pathway (GO:0060070)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to insulin stimulus (GO:0032869)|chiasma assembly (GO:0051026)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|histone lysine demethylation (GO:0070076)|in utero embryonic development (GO:0001701)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of histone phosphorylation (GO:0033128)|positive regulation of reciprocal meiotic recombination (GO:0010845)|postreplication repair (GO:0006301)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|sperm axoneme assembly (GO:0007288)|spermatogenesis (GO:0007283)|synaptonemal complex organization (GO:0070193)|ubiquitin-dependent protein catabolic process (GO:0006511) chromatin (GO:0000785)|cytoplasm (GO:0005737)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|replication fork (GO:0005657)|XY body (GO:0001741) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842) kidney(1)|large_intestine(2)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) gaggttgaggctgcagtgagc 0.433 NA Rad6 pathway NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M74525 CCDS4174.1 5q31.1 2011-05-19 2011-05-19 ENSG00000119048 ENSG00000119048 7320 Ubiquitin-conjugating enzymes E2 12473 protein-coding gene gene with protein product 179095 ubiquitin-conjugating enzyme E2B (RAD6 homolog) NA 1559696 Standard NM_003337 NM_003337 NA Approved UBC2, HHR6B, RAD6B uc003kzh.3 P63146 OTTHUMG00000129120 ENST00000265339.2:c.*1550C>T chr5.hg19:g.133727594C>T NA B2R503|D3DQA2|P23567|Q4PJ15|Q9D0J6 hg19 CCDS4174.1 0.02 0.684382 AGGxTGC COVERED NOVEL UBE2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251166.2 6 11.000842 KEEP 1 2 49 54 1847 CC 1 0.999895 0 + 6 60 139 0 1 7.458706 77 60 2561 176 ENST00000265339.2 0.072289 0.999895 DDX46 9879 __UNKNOWN__ __UNKNOWN__ 5 134142968 134142968 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:134142968T>C ENST00000354283.4 + 16 2089 DDX46_ENST00000452510.2_Intron Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822) NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) cctcggcctctcaaagtgctg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(13;391 453 4901 21675 24897) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34240.1, CCDS75306.1 5q31.1 2010-01-25 ENSG00000145833 ENSG00000145833 9879 DEAD-boxes 18681 protein-coding gene gene with protein product NA Standard NM_014829 XM_005272142 NA Approved KIAA0801, FLJ25329, PRPF5, Prp5 uc003kzw.3 Q7L014 OTTHUMG00000163072 ENST00000354283.4:c.1955-470T>C chr5.hg19:g.134142968T>C NA O94894|Q96EI0|Q9Y658 hg19 CCDS34240.1 0.02 -0.306978 CTCxCAA COVERED NOVEL DDX46-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371584.1 9 2.708552 KEEP 2 0 0 9 295 TT 0.99254 0.794276 0 + 4 60 124 0 0 9.075384 28 60 842 64 ENST00000354283.4 0.125 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 134199599 134199599 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:134199599G>A NA NA C5orf24 (4172 upstream) : TXNDC15 (9893 downstream) NA NA NA gcgcaatctcggctcactgca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.134199599G>A NA hg19 0.02 -0.140344 CTCxGCT COVERED NOVEL 0 7 2.708181 KEEP 6 0 0 9 295 GG 0.99254 0.289823 0 3 40 88 0 0 7.072945 11 60 355 39 0.214286 0.292001 TXNDC15 79770 __UNKNOWN__ __UNKNOWN__ 5 134236298 134236298 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:134236298A>G ENST00000358387.4 + 0 2631 TXNDC15_ENST00000502625.1_Intron NM_024715.3 NP_078991.3 Q96J42 TXD15_HUMAN thioredoxin domain containing 15 NA NA cell redox homeostasis (GO:0045454) integral component of membrane (GO:0016021) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) cccgggaggcagaggttgcag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026278 CCDS4180.1 5q31.1 2008-02-05 2007-08-16 2007-08-16 ENSG00000113621 ENSG00000113621 79770 20652 protein-coding gene gene with protein product chromosome 5 open reading frame 14 C5orf14 NA Standard NM_024715 NM_024715 NA Approved 2310047H23Rik, FLJ22625 uc003lac.1 Q96J42 OTTHUMG00000129115 ENST00000358387.4:c.*923A>G chr5.hg19:g.134236298A>G NA D3DQA9|Q96MT2|Q9H639 hg19 CCDS4180.1 0.02 -0.42973 GGCxGAG COVERED NOVEL TXNDC15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251160.1 4 3.31033 KEEP 0 0 0 11 354 AA 0.993072 0.953209 0 + 3 60 96 0 0 6.3738 38 60 1113 71 ENST00000358387.4 0.073171 0.959859 KDM3B 51780 __UNKNOWN__ __UNKNOWN__ 5 137709993 137709993 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:137709993T>C ENST00000314358.5 + 3 560 NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B NA NA chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 ttcttgttgctcaggctggag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF251039 CCDS34242.1 5q31 2011-07-01 2009-04-06 2009-04-06 ENSG00000120733 ENSG00000120733 51780 Chromatin-modifying enzymes / K-demethylases 1337 protein-coding gene gene with protein product 609373 chromosome 5 open reading frame 7, jumonji domain containing 1B C5orf7, JMJD1B NA 15138608 Standard NM_016604 NM_016604 NA Approved KIAA1082, NET22 uc003lcy.1 Q7LBC6 OTTHUMG00000163469 ENST00000314358.5:c.361-789T>C chr5.hg19:g.137709993T>C NA A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0 hg19 CCDS34242.1 0.02 3.666707 TGCxCAG COVERED NOVEL KDM3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373597.1 18 7.257612 KEEP 0 1 34 36 1159 TT 1 1 0 + 9 60 293 2 0 19.570439 118 60 3519 243 ENST00000314358.5 0.070866 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 137929420 137929420 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:137929420G>C NA NA HSPA9 (18287 upstream) : snoU13 (29747 downstream) NA NA NA acctcggcctgccaaagtgtt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.137929420G>C NA hg19 0.02 -0.114038 CCTxCCA UNCOVERED NOVEL 0 3 2.407903 KEEP 0 0 0 8 292 GG 0.99257 0.16126 0 3 60 89 0 0 7.400876 9 60 316 31 0.25 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 138605572 138605572 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:138605572A>G NA NA RNU6-572P (48046 upstream) : MATR3 (3868 downstream) NA NA NA ctcccacctcagcctcccaaa 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.138605572A>G NA hg19 0.02 -0.245591 CTCxGCC COVERED NOVEL 0 9 2.708581 KEEP 0 0 0 9 296 AA 0.99254 0.636563 0 3 60 96 0 0 7.165338 20 60 602 58 0.130435 0.641347 MATR3 9782 __UNKNOWN__ __UNKNOWN__ 5 138666532 138666532 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:138666532A>G ENST00000394800.2 + 0 4685 MATR3_ENST00000394805.3_3'UTR P43243 MATR3_HUMAN matrin 3 NA NA cell death (GO:0008219) membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270) breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) tgtcacccagactggagtgca 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M63483 CCDS4210.1, CCDS54908.1, CCDS75316.1 5q31.3 2010-08-12 ENSG00000015479 ENSG00000015479 9782 6912 protein-coding gene gene with protein product 164015 myopathy, distal 2 MPD2 NA 2033075, 19344878 Standard NM_018834 NM_018834 NA Approved KIAA0723, MGC9105, VCPDM uc003ldx.3 P43243 OTTHUMG00000129229 ENST00000394800.2:c.*1448A>G chr5.hg19:g.138666532A>G NA B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27 hg19 0.02 4.038087 CAGxCTG COVERED NOVEL MATR3-001 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000251323.1 17 8.457689 KEEP 0 1 34 40 1234 AA 1 0.999991 0 + 7 60 246 0 0 17.025145 90 60 2643 194 ENST00000394800.2 0.072165 0.999991 SPATA24 202051 __UNKNOWN__ __UNKNOWN__ 5 138738210 138738210 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:138738210T>G ENST00000451821.2 - 2 190 SPATA24_ENST00000507779.2_Intron|SPATA24_ENST00000509959.1_Intron Q86W54 SPA24_HUMAN spermatogenesis associated 24 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) NA gggactacagttgtgagccac 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098740 CCDS47274.1 5q31.2 2014-02-12 2009-09-30 ENSG00000170469 ENSG00000170469 202051 27322 protein-coding gene gene with protein product coiled-coil domain containing 161 NA 16146721 Standard NM_194296 NM_194296 NA Approved T6441, CCDC161 uc003lel.4 Q86W54 OTTHUMG00000163388 ENST00000451821.2:c.183+106A>C chr5.hg19:g.138738210T>G NA hg19 0.02 -0.306891 CAGxTGT COVERED NOVEL SPATA24-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000372986.1 6 2.522982 KEEP 0 1 36 21 549 TT 0.999879 0.800148 0 - 3 60 103 0 0 7.409479 29 60 801 65 ENST00000451821.2 0.09375 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 138902167 138902167 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:138902167A>G NA NA TMEM173 (39792 upstream) : UBE2D2 (3848 downstream) NA NA NA ggtggctcacacctgtaatcc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.138902167A>G NA hg19 0.02 -0.192957 CACxCCT COVERED NOVEL 0 5 2.708145 KEEP 3 0 0 9 280 AA 0.99257 0.4869 0 3 60 100 0 0 7.910157 15 60 440 49 0.166667 0.490544 PFDN1 5201 __UNKNOWN__ __UNKNOWN__ 5 139643334 139643334 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:139643334T>C ENST00000261813.4 - 4 333 CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000524074.1_Intron|PFDN1_ENST00000510217.1_Intron|PFDN1_ENST00000514611.1_Intron NM_002622.4 NP_002613.2 O60925 PFD1_HUMAN prefoldin subunit 1 NA NA 'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537) prefoldin complex (GO:0016272) sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|large_intestine(3)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) gagccgggcgtggtggctcat 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y17392 CCDS4222.1 5q31 2008-02-05 2006-02-24 ENSG00000113068 ENSG00000113068 5201 8866 protein-coding gene gene with protein product 604897 prefoldin 1 NA 9630229 Standard NM_002622 XM_005268465 NA Approved PFD1 uc003lff.1 O60925 OTTHUMG00000129249 ENST00000261813.4:c.286-17692A>G chr5.hg19:g.139643334T>C NA B2RD02|Q53F95|Q96EX6 hg19 CCDS4222.1 0.02 -0.350739 GCGxGGT COVERED NOVEL PFDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251354.3 3 5.416648 KEEP 1 0 0 18 569 TT 0.999859 0.877584 0 - 4 60 131 0 0 9.507196 33 60 963 77 ENST00000261813.4 0.108108 0.877708 ANKHD1 54882 __UNKNOWN__ __UNKNOWN__ 5 139876719 139876719 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:139876719G>A ENST00000360839.2 + 15 3014 c.2860G>A c.(2860-2862)Gta>Ata p.V954I ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V954I|ANKHD1_ENST00000297183.6_Missense_Mutation_p.V954I NM_017747.2 NP_060217.1 Q8IWZ3 ANKH1_HUMAN ankyrin repeat and KH domain containing 1 954 NA cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTCAGAAAGTATCAGGTAA 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 132 132 132 NA NA NA 5 NA NA 139876719 2203 4300 6503 SO:0001583 missense AF521882 CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1 5q31.3 2013-01-10 ENSG00000131503 ENSG00000131503 54882 Ankyrin repeat domain containing 24714 protein-coding gene gene with protein product 610500 NA 10470851, 11230166, 16098192 Standard NM_017747 NM_017747 NA Approved MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085 Q8IWZ3 OTTHUMG00000161610 ENST00000360839.2:c.2860G>A chr5.hg19:g.139876719G>A ENSP00000354085:p.Val954Ile NA A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7 hg19 CCDS4225.1 0.02 1.362229 AAAxTAT COVERED . . . . . . . . . . G 11.89 1.772727 0.31411 . . ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996 ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219 T;T;T;T 0.69561 -0.38;-0.41;-0.19;-0.41 5.77 1.9 0.25705 Ankyrin repeat-containing domain (1); 0.382752 0.27092 N 0.020966 T 0.49133 0.1539 L 0.31926 0.97 0.31601 N 0.65275 B;B;B 0.06786 0.0;0.001;0.0 B;B;B 0.06405 0.002;0.002;0.001 T 0.42965 -0.9420 10 0.36615 T 0.2 . 5.9277 0.19122 0.1402:0.0:0.5888:0.271 . 954;954;954 Q8IWZ3-4;Q8IWZ2;Q8IWZ3 .;.;ANKH1_HUMAN I 954;987;954;954;488;973;954 ENSP00000354085:V954I;ENSP00000297183:V954I;ENSP00000394489:V973I;ENSP00000432016:V954I ENSP00000432016:V954I V + 1 0 ANKHD1-EIF4EBP3;ANKHD1 139856903 1.000000 0.71417 0.998000 0.56505 0.995000 0.86356 5.093000 0.64517 0.058000 0.16222 0.591000 0.81541 GTA NOVEL ANKHD1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000251672.1 1 18.661056 KEEP 0 0 0 62 2236 GG 1 0.999487 0 + 5 60 137 0 0 7.909723 78 60 2592 185 ENST00000360839.2 0.060241 0.999487 PCDHA2 56146 __UNKNOWN__ __UNKNOWN__ 5 140185036 140185036 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140185036T>G ENST00000520672.2 + 0 2886 PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_031496.1 NP_113684.1 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 NA NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTGTGTGTTTGTGTGAGTG 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF152480 CCDS54914.1, CCDS64269.1 5q31 2010-11-26 ENSG00000204969 56146 Cadherins / Protocadherins : Clustered 8668 other complex locus constituent KIAA0345-like 12 606308 NA 10380929 Standard NM_018905 NM_018905 NA Approved Q9Y5H9 ENST00000520672.2:c.*353T>G chr5.hg19:g.140185036T>G NA O75287|Q9BTV3 hg19 0.02 3.86535 TGTxTGT COVERED NOVEL PCDHA2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000374265.2 17 2.277231 KEEP 0 3 107 45 1387 TT 1 0.999981 0 + 13 60 426 0 0 32.279163 83 60 2393 190 ENST00000520672.2 0.135417 0.999981 PCDHB4 56131 __UNKNOWN__ __UNKNOWN__ 5 140502997 140502997 __UNKNOWN__ Missense_Mutation SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140502997A>C ENST00000194152.1 + 1 1417 c.1417A>C c.(1417-1419)Agc>Cgc p.S473R NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 473 Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCAGTGTCAGCGCCACAGA 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 55 53 NA NA NA 5 NA NA 140502997 2202 4295 6497 SO:0001583 missense AF152497 CCDS4246.1 5q31 2010-01-26 ENSG00000081818 ENSG00000081818 56131 Cadherins / Protocadherins : Clustered 8689 other protocadherin 606330 NA 10380929 Standard NM_018938 NM_018938 NA Approved PCDH-BETA4 uc003lip.1 Q9Y5E5 OTTHUMG00000129617 ENST00000194152.1:c.1417A>C chr5.hg19:g.140502997A>C ENSP00000194152:p.Ser473Arg NA Q4V761 hg19 CCDS4246.1 0.02 -0.184153 GTCxGCG COVERED . . . . . . . . . . A 10.93 1.490043 0.26686 . . ENSG00000081818 ENST00000194152 T 0.01838 4.61 4.1 2.91 0.33838 Cadherin (4);Cadherin-like (1); . . . . T 0.04137 0.0115 N 0.25426 0.745 0.09310 N 1 B 0.31989 0.35 P 0.46585 0.521 T 0.47235 -0.9133 9 0.45353 T 0.12 . 10.8143 0.46567 0.5485:0.4515:0.0:0.0 . 473 Q9Y5E5 PCDB4_HUMAN R 473 ENSP00000194152:S473R ENSP00000194152:S473R S + 1 0 PCDHB4 140483181 0.000000 0.05858 0.977000 0.42913 0.499000 0.33736 0.144000 0.16135 0.730000 0.32425 0.529000 0.55759 AGC NOVEL PCDHB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251812.2 0 3.610755 KEEP 2 0 0 12 369 AA 0.993634 0.420782 0 + 3 25 100 0 0 7.692427 18 50 518 44 ENST00000194152.1 0.142857 0.423478 PCDHB4 56131 __UNKNOWN__ __UNKNOWN__ 5 140503002 140503002 __UNKNOWN__ Silent SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140503002C>A ENST00000194152.1 + 1 1422 c.1422C>A c.(1420-1422)gcC>gcA p.A474A NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 474 Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) p.A474A(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGTCAGCGCCACAGACAGAG 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) skin(1) 48 52 51 NA NA NA 5 NA NA 140503002 2201 4295 6496 SO:0001819 synonymous_variant AF152497 CCDS4246.1 5q31 2010-01-26 ENSG00000081818 ENSG00000081818 56131 Cadherins / Protocadherins : Clustered 8689 other protocadherin 606330 NA 10380929 Standard NM_018938 NM_018938 NA Approved PCDH-BETA4 uc003lip.1 Q9Y5E5 OTTHUMG00000129617 ENST00000194152.1:c.1422C>A chr5.hg19:g.140503002C>A NA Q4V761 hg19 CCDS4246.1 0.02 -0.192988 CGCxACA COVERED NOVEL PCDHB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251812.2 0 3.611745 KEEP 2 0 0 12 421 CC 0.993634 0.454842 0 + 3 25 93 0 0 6.927161 19 50 628 44 ENST00000194152.1 0.136364 0.457757 PCDHB12 56124 __UNKNOWN__ __UNKNOWN__ 5 140590211 140590211 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140590211T>C ENST00000239450.2 + 1 1921 c.1732T>C c.(1732-1734)Tgg>Cgg p.W578R PCDHB12_ENST00000541609.1_Missense_Mutation_p.W241R NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 578 Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGTGCCCTGGGCGGCCGA 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 25 33 30 NA NA NA 5 NA NA 140590211 2177 4269 6446 SO:0001583 missense AF152491 CCDS4254.1 5q31 2010-01-26 ENSG00000120328 ENSG00000120328 56124 Cadherins / Protocadherins : Clustered 8683 other protocadherin 606338 NA 10380929 Standard NM_018932 NM_018932 NA Approved PCDH-BETA12 uc003liz.3 Q9Y5F1 OTTHUMG00000129620 ENST00000239450.2:c.1732T>C chr5.hg19:g.140590211T>C ENSP00000239450:p.Trp578Arg NA B4DDU1 hg19 CCDS4254.1 0.02 -0.245555 CCCxGGG COVERED . . . . . . . . . . C 0.018 -1.481113 0.01027 . . ENSG00000120328 ENST00000541609;ENST00000239450;ENST00000507840 T;T 0.19105 2.17;2.17 3.4 -6.79 0.01715 Cadherin (1);Cadherin-like (1); . . . . T 0.01765 0.0056 N 0.00004 -3.385 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.39881 -0.9592 9 0.02654 T 1 . 10.455 0.44546 0.178:0.6193:0.0:0.2027 . 578 Q9Y5F1 PCDBC_HUMAN R 241;578;198 ENSP00000440199:W241R;ENSP00000239450:W578R ENSP00000239450:W578R W + 1 0 PCDHB12 140570395 0.000000 0.05858 0.111000 0.21465 0.960000 0.62799 -1.804000 0.01738 -2.628000 0.00436 -1.589000 0.00846 TGG NOVEL PCDHB12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251815.2 0 2.70745 KEEP 1 0 0 9 271 TT 0.99254 0.636563 0 + 4 20 131 0 0 10.023269 24 60 688 53 ENST00000239450.2 0.142857 0.641347 PCDHGB3 56102 __UNKNOWN__ __UNKNOWN__ 5 140785038 140785038 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140785038A>G ENST00000576222.1 + 1 2546 PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 NA NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ccaggctggaatgcagtggtg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 4 4 NA NA NA 5 NA NA 140785038 1669 3663 5332 SO:0001627 intron_variant AF152519 CCDS58980.1, CCDS75334.1 5q31 2010-01-26 56102 Cadherins / Protocadherins : Clustered 8710 other protocadherin 606301 NA 10380929 Standard NM_018924 NM_018924 NA Approved PCDH-GAMMA-B3 Q9Y5G1 ENST00000576222.1:c.2415+32662A>G chr5.hg19:g.140785038A>G NA A7E229|Q9Y5C7 hg19 CCDS58980.1 0.02 2.023501 GGAxTGC COVERED NOVEL PCDHGB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437094.1 6 2.539334 KEEP 0 1 36 21 597 AA 0.999879 0.970703 0 + 5 60 157 0 0 11.54532 35 60 968 80 ENST00000576222.1 0.125 0.97082 PCDHGB3 56102 __UNKNOWN__ __UNKNOWN__ 5 140785062 140785062 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140785062T>C ENST00000576222.1 + 1 2546 PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 NA NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tctcggctcattgcaacctcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF152519 CCDS58980.1, CCDS75334.1 5q31 2010-01-26 56102 Cadherins / Protocadherins : Clustered 8710 other protocadherin 606301 NA 10380929 Standard NM_018924 NM_018924 NA Approved PCDH-GAMMA-B3 Q9Y5G1 ENST00000576222.1:c.2415+32686T>C chr5.hg19:g.140785062T>C NA A7E229|Q9Y5C7 hg19 CCDS58980.1 0.02 -0.315543 TCAxTGC COVERED NOVEL PCDHGB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437094.1 5 3.009386 KEEP 0 0 0 10 323 TT 0.992708 0.812496 0 + 3 60 98 0 0 7.143923 24 60 696 50 ENST00000576222.1 0.111111 0.818465 DIAPH1 1729 __UNKNOWN__ __UNKNOWN__ 5 140909388 140909388 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140909388T>C ENST00000389054.3 - 19 2713 DIAPH1_ENST00000494967.1_Intron|DIAPH1_ENST00000389057.5_Intron|DIAPH1_ENST00000398557.4_Intron|DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000398562.2_Intron|DIAPH1_ENST00000398566.3_Intron|DIAPH1_ENST00000253811.6_Intron|DIAPH1_ENST00000520569.1_Intron O60610 DIAP1_HUMAN diaphanous-related formin 1 NA NA actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587) ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) cagtggctcatgcctgtaatc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007411 5q31 2013-05-24 2013-05-24 ENSG00000131504 ENSG00000131504 1729 2876 protein-coding gene gene with protein product 602121 diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila) DFNA1 NA 9360932, 1350680 Standard NM_005219 NM_005219 NA Approved hDIA1, LFHL1 uc003llb.4 O60610 OTTHUMG00000149893 ENST00000389054.3:c.2573-124A>G chr5.hg19:g.140909388T>C NA A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76 hg19 0.02 1.429724 TCAxGCC COVERED NOVEL DIAPH1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000313771.3 2 25.4428 KEEP 0 2 73 110 3413 TT 1 0.999948 0 - 4 60 131 0 0 7.929 85 60 2498 263 ENST00000389054.3 0.044944 0.999948 DIAPH1 1729 __UNKNOWN__ __UNKNOWN__ 5 140909408 140909408 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140909408C>T ENST00000389054.3 - 19 2713 DIAPH1_ENST00000494967.1_Intron|DIAPH1_ENST00000389057.5_Intron|DIAPH1_ENST00000398557.4_Intron|DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000398562.2_Intron|DIAPH1_ENST00000398566.3_Intron|DIAPH1_ENST00000253811.6_Intron|DIAPH1_ENST00000520569.1_Intron O60610 DIAP1_HUMAN diaphanous-related formin 1 NA NA actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587) ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) cccagcacttcgggaggccaa 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007411 5q31 2013-05-24 2013-05-24 ENSG00000131504 ENSG00000131504 1729 2876 protein-coding gene gene with protein product 602121 diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila) DFNA1 NA 9360932, 1350680 Standard NM_005219 NM_005219 NA Approved hDIA1, LFHL1 uc003llb.4 O60610 OTTHUMG00000149893 ENST00000389054.3:c.2573-144G>A chr5.hg19:g.140909408C>T NA A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76 hg19 0.02 1.505449 CTTxGGG COVERED NOVEL DIAPH1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000313771.3 4 21.596803 KEEP 0 1 32 83 2599 CC 1 0.99911 0 - 5 60 142 0 0 8.818374 64 60 1987 191 ENST00000389054.3 0.072464 0.99911 DIAPH1 1729 __UNKNOWN__ __UNKNOWN__ 5 140915627 140915627 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140915627A>G ENST00000389054.3 - 18 2614 DIAPH1_ENST00000389057.5_Intron|DIAPH1_ENST00000398557.4_Intron|DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000398562.2_Intron|DIAPH1_ENST00000398566.3_Intron|DIAPH1_ENST00000253811.6_Intron|DIAPH1_ENST00000520569.1_Intron O60610 DIAP1_HUMAN diaphanous-related formin 1 NA NA actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587) ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) agcactttggaaggctgaggt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 92 76 81 NA NA NA 5 NA NA 140915627 692 1591 2283 SO:0001627 intron_variant BC007411 5q31 2013-05-24 2013-05-24 ENSG00000131504 ENSG00000131504 1729 2876 protein-coding gene gene with protein product 602121 diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila) DFNA1 NA 9360932, 1350680 Standard NM_005219 NM_005219 NA Approved hDIA1, LFHL1 uc003llb.4 O60610 OTTHUMG00000149893 ENST00000389054.3:c.2474-1627T>C chr5.hg19:g.140915627A>G NA A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76 hg19 0.02 3.774414 TGGxAGG COVERED NOVEL DIAPH1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000313771.3 11 5.177382 KEEP 0 2 71 42 1269 AA 1 0.999977 0 - 7 60 231 0 0 15.694578 85 60 2392 200 ENST00000389054.3 0.076087 0.999978 DIAPH1 1729 __UNKNOWN__ __UNKNOWN__ 5 140930210 140930210 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140930210C>T ENST00000389054.3 - 18 2614 DIAPH1_ENST00000389057.5_Intron|DIAPH1_ENST00000398557.4_Intron|DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000398562.2_Intron|DIAPH1_ENST00000398566.3_Intron|DIAPH1_ENST00000253811.6_Intron|DIAPH1_ENST00000520569.1_Intron O60610 DIAP1_HUMAN diaphanous-related formin 1 NA NA actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587) ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) caagacagagcctcactctat 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007411 5q31 2013-05-24 2013-05-24 ENSG00000131504 ENSG00000131504 1729 2876 protein-coding gene gene with protein product 602121 diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila) DFNA1 NA 9360932, 1350680 Standard NM_005219 NM_005219 NA Approved hDIA1, LFHL1 uc003llb.4 O60610 OTTHUMG00000149893 ENST00000389054.3:c.2474-16210G>A chr5.hg19:g.140930210C>T NA A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76 hg19 0.02 -0.280669 GAGxCTC COVERED NOVEL DIAPH1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000313771.3 2 4.45013 KEEP 0 1 35 27 929 CC 0.999997 0.739669 0 - 3 60 94 0 0 6.693123 25 60 788 60 ENST00000389054.3 0.107143 0.739671 DIAPH1 1729 __UNKNOWN__ __UNKNOWN__ 5 140930219 140930219 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:140930219A>G ENST00000389054.3 - 18 2614 DIAPH1_ENST00000389057.5_Intron|DIAPH1_ENST00000398557.4_Intron|DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000398562.2_Intron|DIAPH1_ENST00000398566.3_Intron|DIAPH1_ENST00000253811.6_Intron|DIAPH1_ENST00000520569.1_Intron O60610 DIAP1_HUMAN diaphanous-related formin 1 NA NA actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587) ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) gcctcactctattgcccaggc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007411 5q31 2013-05-24 2013-05-24 ENSG00000131504 ENSG00000131504 1729 2876 protein-coding gene gene with protein product 602121 diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila) DFNA1 NA 9360932, 1350680 Standard NM_005219 NM_005219 NA Approved hDIA1, LFHL1 uc003llb.4 O60610 OTTHUMG00000149893 ENST00000389054.3:c.2474-16219T>C chr5.hg19:g.140930219A>G NA A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76 hg19 0.02 -0.245506 TCTxTTG COVERED NOVEL DIAPH1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000313771.3 4 3.944043 KEEP 0 1 34 25 729 AA 0.999957 0.64132 0 - 3 60 100 0 0 7.506243 21 60 580 55 ENST00000389054.3 0.125 0.641347 PCDH1 5097 __UNKNOWN__ __UNKNOWN__ 5 141240587 141240587 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:141240587G>A ENST00000287008.3 - 3 3247 PCDH1_ENST00000503492.1_Intron NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 NA NA cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) ggctgaggcaggagaattgct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(132;1609 1739 4190 14731 45037) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075233 CCDS4267.1, CCDS43375.1 5q31.3 2010-01-26 2007-02-12 ENSG00000156453 ENSG00000156453 5097 Cadherins / Protocadherins : Non-clustered 8655 protein-coding gene gene with protein product 603626 protocadherin 1 (cadherin-like 1) NA 8508762 Standard NM_032420 NM_032420 NA Approved pc42 uc003llp.3 Q08174 OTTHUMG00000129661 ENST00000287008.3:c.3099+2209C>T chr5.hg19:g.141240587G>A NA Q8IUP2 hg19 CCDS4267.1 0.02 -0.166657 GCAxGAG UNCOVERED NOVEL PCDH1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320587.2 11 2.708834 KEEP 6 0 0 9 318 GG 0 0 0 - 3 49 86 0 1 6.592255 14 55 455 40 ENST00000287008.3 0.176471 0.353947 KIAA0141 9812 __UNKNOWN__ __UNKNOWN__ 5 141304316 141304316 __UNKNOWN__ Intron SNP T T A rs386692948 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:141304316T>A ENST00000432126.2 + 2 280 KIAA0141_ENST00000194118.4_Intron NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 NA NA extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281) mitochondrion (GO:0005739) endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTttttttattttttttttt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC011269 CCDS4268.1 5q31 2011-05-05 ENSG00000081791 ENSG00000081791 9812 28969 protein-coding gene gene with protein product death ligand signal enhancer 615741 NA 20563667 Standard NM_014773 XM_005268549 NA Approved DELE uc003llt.3 Q14154 OTTHUMG00000129662 ENST00000432126.2:c.146+56T>A chr5.hg19:g.141304316T>A NA Q969R4|Q96EU9 hg19 CCDS4268.1 0.02 1.059647 TTAxTTT COVERED NOVEL KIAA0141-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251863.2 10 16.811556 KEEP 0 2 57 76 2310 TT 1 0.999919 0 + 6 60 166 0 1 10.063566 79 60 2224 230 ENST00000432126.2 0.070588 0.999919 KIAA0141 9812 __UNKNOWN__ __UNKNOWN__ 5 141304741 141304741 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:141304741G>A ENST00000432126.2 + 3 280 KIAA0141_ENST00000194118.4_Intron NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 NA NA extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281) mitochondrion (GO:0005739) endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgatctgcccgcctcagcctc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC011269 CCDS4268.1 5q31 2011-05-05 ENSG00000081791 ENSG00000081791 9812 28969 protein-coding gene gene with protein product death ligand signal enhancer 615741 NA 20563667 Standard NM_014773 XM_005268549 NA Approved DELE uc003llt.3 Q14154 OTTHUMG00000129662 ENST00000432126.2:c.147-234G>A chr5.hg19:g.141304741G>A NA Q969R4|Q96EU9 hg19 CCDS4268.1 0.02 -0.149109 CCCxCCT COVERED NOVEL KIAA0141-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251863.2 8 2.407896 KEEP 2 0 0 8 286 GG 0.99257 0.289832 0 + 3 60 88 0 0 6.972585 12 60 378 35 ENST00000432126.2 0.2 0.292001 NR3C1 2908 __UNKNOWN__ __UNKNOWN__ 5 142662337 142662337 __UNKNOWN__ Intron SNP C C T rs372363696 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:142662337C>T ENST00000231509.3 - 8 2518 NR3C1_ENST00000503201.1_Intron|NR3C1_ENST00000504572.1_Intron|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000343796.2_Intron|NR3C1_ENST00000394466.2_Intron|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Intron|NR3C1_ENST00000424646.2_Intron P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NA NA adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620) TTTTTCTTTTCTtttcttttt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 44 43 NA NA NA 5 NA NA 142662337 2199 4298 6497 SO:0001627 intron_variant X03225 CCDS4278.1, CCDS34258.1, CCDS47298.1 5q31-q32 2013-01-16 2002-08-27 ENSG00000113580 ENSG00000113580 2908 Nuclear hormone receptors 7978 protein-coding gene gene with protein product 138040 nuclear receptor subfamily 3, group C, member 1 GRL NA 2867473 Standard NM_001204258 NA Approved GR uc003lnb.3 P04150 OTTHUMG00000129677 ENST00000231509.3:c.2027-47G>A chr5.hg19:g.142662337C>T NA A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4 hg19 CCDS34258.1 0.02 -0.278446 TTTxTTT COVERED NOVEL NR3C1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251879.1 3 3.024391 KEEP 0 3 34 23 617 CC 0.999957 0.73964 0 - 6 70 113 0 1 7.590611 25 60 714 63 ENST00000231509.3 0.193548 0.739671 NR3C1 2908 __UNKNOWN__ __UNKNOWN__ 5 142662371 142662371 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:142662371G>A ENST00000231509.3 - 8 2518 NR3C1_ENST00000503201.1_Intron|NR3C1_ENST00000504572.1_Intron|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000343796.2_Intron|NR3C1_ENST00000394466.2_Intron|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Intron|NR3C1_ENST00000424646.2_Intron P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NA NA adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620) gatagatagggtctcactgtg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X03225 CCDS4278.1, CCDS34258.1, CCDS47298.1 5q31-q32 2013-01-16 2002-08-27 ENSG00000113580 ENSG00000113580 2908 Nuclear hormone receptors 7978 protein-coding gene gene with protein product 138040 nuclear receptor subfamily 3, group C, member 1 GRL NA 2867473 Standard NM_001204258 NA Approved GR uc003lnb.3 P04150 OTTHUMG00000129677 ENST00000231509.3:c.2027-81C>T chr5.hg19:g.142662371G>A NA A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4 hg19 CCDS34258.1 0.02 -0.105189 AGGxTCT UNCOVERED NOVEL NR3C1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251879.1 1 3.009027 KEEP 0 0 0 10 333 GG 0.992708 0.138812 0 - 3 60 77 0 0 6.333072 8 70 234 22 ENST00000231509.3 0.272727 0.139832 NR3C1 2908 __UNKNOWN__ __UNKNOWN__ 5 142662659 142662659 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:142662659A>G ENST00000231509.3 - 8 2518 NR3C1_ENST00000503201.1_Intron|NR3C1_ENST00000504572.1_Intron|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000343796.2_Intron|NR3C1_ENST00000394466.2_Intron|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Intron|NR3C1_ENST00000424646.2_Intron P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NA NA adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620) ggctggtcttaaactcctggg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X03225 CCDS4278.1, CCDS34258.1, CCDS47298.1 5q31-q32 2013-01-16 2002-08-27 ENSG00000113580 ENSG00000113580 2908 Nuclear hormone receptors 7978 protein-coding gene gene with protein product 138040 nuclear receptor subfamily 3, group C, member 1 GRL NA 2867473 Standard NM_001204258 NA Approved GR uc003lnb.3 P04150 OTTHUMG00000129677 ENST00000231509.3:c.2027-369T>C chr5.hg19:g.142662659A>G NA A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4 hg19 CCDS34258.1 0.02 -0.254297 CTTxAAC COVERED NOVEL NR3C1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251879.1 12 2.704428 KEEP 1 0 0 9 251 AA 0.99254 0.663536 0 - 3 60 97 0 0 6.993974 25 60 694 51 ENST00000231509.3 0.107143 0.668523 JAKMIP2 9832 __UNKNOWN__ __UNKNOWN__ 5 146974033 146974033 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:146974033T>G ENST00000265272.5 - 21 2880 JAKMIP2_ENST00000333010.6_Intron|JAKMIP2_ENST00000507386.1_Intron NM_001270941.1|NM_014790.4 NP_001257870.1|NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 NA NA Golgi apparatus (GO:0005794) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) aagtagctggtactacaggta 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011127 CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1 5q32 2009-08-13 2009-08-13 ENSG00000176049 ENSG00000176049 9832 29067 protein-coding gene gene with protein product 611197 NA 9628581 Standard NM_014790 NM_001270941 NA Approved JAMIP2, KIAA0555 uc010jgo.2 Q96AA8 OTTHUMG00000129731 ENST00000265272.5:c.2413-2784A>C chr5.hg19:g.146974033T>G NA A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1 hg19 CCDS4285.1 0.02 -0.429697 TGGxACT COVERED NOVEL JAKMIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251941.1 6 3.609492 KEEP 0 0 0 12 355 TT 0.993634 0.948414 0 - 4 60 138 1 0 9.769879 43 60 1225 84 ENST00000265272.5 0.085106 0.954491 PPARGC1B 133522 __UNKNOWN__ __UNKNOWN__ 5 149233950 149233950 __UNKNOWN__ 3'UTR SNP T T G rs143978112|rs200311124 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:149233950T>G ENST00000309241.5 + 0 9933 NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta NA NA actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366) mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) gtgtgtgtgtttgtgtgtgtg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF468496 CCDS4298.1, CCDS54933.1, CCDS54934.1 5q33.1 2013-02-12 2006-10-17 ENSG00000155846 ENSG00000155846 133522 RNA binding motif (RRM) containing 30022 protein-coding gene gene with protein product 608886 peroxisome proliferative activated receptor, gamma, coactivator 1, beta NA 11793024, 11854298 Standard NM_133263 NM_133263 NA Approved PERC, PGC1B uc003lrc.3 Q86YN6 OTTHUMG00000130055 ENST00000309241.5:c.*6829T>G chr5.hg19:g.149233950T>G NA A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5 hg19 CCDS4298.1 0.02 1.8805 TGTxTGT COVERED NOVEL PPARGC1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252334.1 6 4.633491 KEEP 0 1 36 28 806 TT 0.999997 0.986151 0 + 7 60 227 0 1 16.830483 50 60 1360 102 ENST00000309241.5 0.122807 0.986153 NDST1 3340 __UNKNOWN__ __UNKNOWN__ 5 149912369 149912369 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:149912369A>G ENST00000523767.1 + 4 1597 NDST1_ENST00000261797.6_Intron P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 NA NA carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) [heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213) breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) gattacaggcatgagccacca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U18918 CCDS34277.1, CCDS75358.1 5q33.1 2008-02-05 ENSG00000070614 3340 Sulfotransferases, membrane-bound 7680 protein-coding gene gene with protein product 600853 HSST NA 7601448, 9230113 Standard NM_001543 NM_001543 NA Approved NST1 uc003lsk.4 P52848 ENST00000523767.1:c.1009-138A>G chr5.hg19:g.149912369A>G NA Q96E57 hg19 0.02 -0.438532 GGCxTGA COVERED NOVEL NDST1-001 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000374313.1 7 3.94631 KEEP 0 1 34 25 781 AA 0.999957 0.959818 0 + 3 60 100 0 0 6.589307 44 60 1312 94 ENST00000523767.1 0.06383 0.959859 IRGM 345611 __UNKNOWN__ __UNKNOWN__ 5 150227620 150227620 __UNKNOWN__ 5'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:150227620T>C ENST00000522154.1 + 0 1048 NM_001145805.1 NP_001139277.1 A1A4Y4 IRGM_HUMAN immunity-related GTPase family, M NA NA autophagy (GO:0006914)|inflammatory response (GO:0006954)|innate immune response (GO:0045087) cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817) NA gcctcggccttccaaagtgct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC038539 CCDS47313.1 5q33.1 2012-02-21 2005-03-23 2005-03-23 ENSG00000237693 ENSG00000237693 345611 29597 protein-coding gene gene with protein product 608212 immunity-related GTPase family, M1 IRGM1 NA 7561525, 14576437 Standard NM_001145805 NM_001145805 NA Approved LRG47, LRG-47, IFI1 uc010jhk.3 A1A4Y4 OTTHUMG00000163647 ENST00000522154.1:c.-66T>C chr5.hg19:g.150227620T>C NA B3VEX0 hg19 CCDS47313.1 0.02 7.247424 CCTxCCA COVERED NOVEL IRGM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374648.1 36 14.433901 KEEP 0 6 212 122 3730 TT 1 1 0 + 8 60 261 0 0 15.229606 199 60 5790 525 ENST00000522154.1 0.038647 1 SLC36A2 153201 __UNKNOWN__ __UNKNOWN__ 5 150701506 150701506 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:150701506C>T ENST00000335244.4 - 9 1310 SLC36A2_ENST00000450886.1_Intron|SLC36A2_ENST00000521967.1_3'UTR NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 NA NA amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Cycloserine(DB00260) cccaaagtgccaggattacag 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY162214 CCDS4315.1 5q33.1 2013-05-22 ENSG00000186335 ENSG00000186335 153201 Solute carriers 18762 protein-coding gene gene with protein product 608331 NA 11959859 Standard NM_181776 NA Approved PAT2, tramdorin, TRAMD1 uc003lty.3 Q495M3 OTTHUMG00000130129 ENST00000335244.4:c.1180+100G>A chr5.hg19:g.150701506C>T NA Q495M4|Q495M6|Q6ZWK5|Q7Z6B5 hg19 CCDS4315.1 0.02 4.341648 TGCxAGG COVERED NOVEL SLC36A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252437.1 33 29.465226 KEEP 1 2 63 120 4253 CC 1 1 0 - 9 60 264 0 0 15.324994 166 60 5700 441 ENST00000335244.4 0.051429 1 SLC36A2 153201 __UNKNOWN__ __UNKNOWN__ 5 150701507 150701507 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:150701507A>G ENST00000335244.4 - 9 1310 SLC36A2_ENST00000450886.1_Intron|SLC36A2_ENST00000521967.1_3'UTR NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 NA NA amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Cycloserine(DB00260) ccaaagtgccaggattacagg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY162214 CCDS4315.1 5q33.1 2013-05-22 ENSG00000186335 ENSG00000186335 153201 Solute carriers 18762 protein-coding gene gene with protein product 608331 NA 11959859 Standard NM_181776 NA Approved PAT2, tramdorin, TRAMD1 uc003lty.3 Q495M3 OTTHUMG00000130129 ENST00000335244.4:c.1180+99T>C chr5.hg19:g.150701507A>G NA Q495M4|Q495M6|Q6ZWK5|Q7Z6B5 hg19 CCDS4315.1 0.02 5.607733 GCCxGGA COVERED NOVEL SLC36A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252437.1 34 33.635807 KEEP 1 1 35 124 3902 AA 1 1 0 - 7 60 247 0 0 15.283331 168 60 5083 443 ENST00000335244.4 0.04 1 GALNT10 55568 __UNKNOWN__ __UNKNOWN__ 5 153768975 153768975 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:153768975T>C ENST00000297107.6 + 7 1193 GALNT10_ENST00000519544.1_Intron|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_3'UTR NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN polypeptide N-acetylgalactosaminyltransferase 10 NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) aaccccatctttactaaaaat 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023782 CCDS4325.1 5q34 2014-03-13 2014-03-13 ENSG00000164574 ENSG00000164574 55568 2.4.1.41 Glycosyltransferase family 2 domain containing 19873 protein-coding gene gene with protein product polypeptide GalNAc transferase 10 608043 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) NA 12417297 Standard NM_198321 NM_198321 NA Approved GalNAc-T10 uc003lvh.3 Q86SR1 OTTHUMG00000130145 ENST00000297107.6:c.1056+2985T>C chr5.hg19:g.153768975T>C NA B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4 hg19 CCDS4325.1 0.02 -0.122769 TCTxTAC COVERED NOVEL GALNT10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252453.1 5 2.706802 KEEP 1 0 0 9 271 TT 0.99257 0.194853 0 + 3 60 92 0 0 7.582383 10 60 278 23 ENST00000297107.6 0.230769 0.196312 GEMIN5 25929 __UNKNOWN__ __UNKNOWN__ 5 154280952 154280952 __UNKNOWN__ Silent SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:154280952G>T ENST00000285873.7 - 21 3036 c.2961C>A c.(2959-2961)tcC>tcA p.S987S NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 987 NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719) poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTTTGTGGATGGAAAGTAGGT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 119 118 118 NA NA NA 5 NA NA 154280952 2203 4300 6503 SO:0001819 synonymous_variant AK022748 CCDS4330.1 5q34 2013-01-10 ENSG00000082516 ENSG00000082516 25929 WD repeat domain containing 20043 protein-coding gene gene with protein product 607005 NA 11714716 Standard NM_015465 NA Approved uc003lvx.3 Q8TEQ6 OTTHUMG00000130189 ENST00000285873.7:c.2961C>A chr5.hg19:g.154280952G>T NA Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5 hg19 CCDS4330.1 0.02 1.29206 GATxGAA COVERED NOVEL GEMIN5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252507.1 1 14.74383 KEEP 0 0 0 49 1674 GG 1 0.999862 0 - 27 60 779 0 0 67.059737 62 60 2069 186 ENST00000285873.7 0.303371 0.999862 GEMIN5 25929 __UNKNOWN__ __UNKNOWN__ 5 154314127 154314127 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:154314127C>T ENST00000285873.7 - 3 585 NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719) poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ccgcctcggcctcccaaagtg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022748 CCDS4330.1 5q34 2013-01-10 ENSG00000082516 ENSG00000082516 25929 WD repeat domain containing 20043 protein-coding gene gene with protein product 607005 NA 11714716 Standard NM_015465 NA Approved uc003lvx.3 Q8TEQ6 OTTHUMG00000130189 ENST00000285873.7:c.509+1273G>A chr5.hg19:g.154314127C>T NA Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5 hg19 CCDS4330.1 0.02 -0.210537 GGCxTCC COVERED NOVEL GEMIN5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252507.1 5 2.407787 KEEP 2 0 0 8 284 CC 0.99257 0.518282 0 - 3 60 89 0 0 6.527533 19 60 659 43 ENST00000285873.7 0.136364 0.522161 MRPL22 29093 __UNKNOWN__ __UNKNOWN__ 5 154333512 154333512 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:154333512T>C ENST00000523037.1 + 4 236 MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Intron|MRPL22_ENST00000522038.1_Intron NM_014180.3 NP_054899.2 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 NA NA translation (GO:0006412) large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) tcccaaagtgttgggattaca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051622 CCDS4331.1, CCDS43391.1 5q33.2 2012-09-13 ENSG00000082515 ENSG00000082515 29093 Mitochondrial ribosomal proteins / large subunits 14480 protein-coding gene gene with protein product 611835 NA Standard NM_014180 NA Approved MRP-L25, RPML25, HSPC158 uc003lvy.4 Q9NWU5 OTTHUMG00000130190 ENST00000523037.1:c.196-2419T>C chr5.hg19:g.154333512T>C NA A6NGJ8|Q5H9Q1|Q96Q51|Q9P006 hg19 CCDS4331.1 0.02 -0.157859 GTGxTGG COVERED NOVEL MRPL22-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000252508.2 6 2.407143 KEEP 1 0 0 8 245 TT 0.99257 0.320408 0 + 4 60 137 0 0 11.701943 12 60 338 40 ENST00000523037.1 0.25 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 154371181 154371181 __UNKNOWN__ IGR SNP G G A rs550810401 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:154371181G>A NA NA MRPL22 (22210 upstream) : KIF4B (22078 downstream) NA NA NA tcaggagatcgagaccatcct 0.532 NA G||| 1 0.000199681 0 0 5008 , , NA 16944 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.154371181G>A NA hg19 0.02 -0.114014 ATCxAGA UNCOVERED NOVEL 0 6 2.407335 KEEP 9 0 0 8 265 GG 0 0 0 3 60 81 0 0 6.601148 9 60 280 39 0.25 0.162467 HAVCR2 84868 __UNKNOWN__ __UNKNOWN__ 5 156513412 156513412 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:156513412T>C ENST00000307851.4 - 0 2337 NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) gtaatcccagtgctttgggag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027334 CCDS4333.1 5q34 2014-01-14 ENSG00000135077 ENSG00000135077 84868 Immunoglobulin superfamily / V-set domain containing 18437 protein-coding gene gene with protein product T-cell immunoglobulin mucin family member 3 606652 NA 11823861 Standard NM_032782 NA Approved Tim-3, TIM3, FLJ14428, TIMD3 uc003lwk.2 Q8TDQ0 OTTHUMG00000130249 ENST00000307851.4:c.*701A>G chr5.hg19:g.156513412T>C NA B2RAY2|Q8WW60|Q96K94 hg19 CCDS4333.1 0.02 -0.236796 CAGxGCT COVERED NOVEL HAVCR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252574.2 4 4.21273 KEEP 0 0 0 14 438 TT 0.995343 0.609555 0 - 3 60 94 1 0 6.966614 20 60 595 51 ENST00000307851.4 0.130435 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 157413623 157413623 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:157413623G>T NA NA RNU2-48P (9659 upstream) : CTC-436K13.5 (186985 downstream) NA NA NA CCTTGGCCTGGCTGGCCTTAG 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.157413623G>T NA hg19 0.02 1.360074 CTGxCTG COVERED NOVEL 0 0 6.62166 KEEP 0 0 0 22 785 GG 0.999879 0.997432 0 15 60 427 0 0 33.876002 57 60 1904 114 0.208333 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 159501194 159501194 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:159501194T>C NA NA TTC1 (8644 upstream) : PWWP2A (1694 downstream) NA NA NA acctgtaatctcagcactttg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.159501194T>C NA hg19 0.02 -0.175415 ATCxCAG COVERED NOVEL 0 7 3.00939 KEEP 0 0 0 10 322 TT 0.992708 0.384582 0 6 60 202 0 0 18.08742 12 60 356 39 0.333333 0.387407 CCNJL 79616 __UNKNOWN__ __UNKNOWN__ 5 159742464 159742464 __UNKNOWN__ 5'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:159742464T>A ENST00000377503.2 - 0 254 CCNJL_ENST00000505287.2_Silent_p.S42S Q8IV13 CCNJL_HUMAN cyclin J-like NA NA nucleus (GO:0005634) endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) cagtgagccgtgattgtgcca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC013353 CCDS4350.2 5q33.3 2008-10-31 ENSG00000135083 ENSG00000135083 79616 25876 protein-coding gene gene with protein product NA 12477932 Standard NM_024565 XM_005265982 NA Approved FLJ14166 uc003lyb.1 Q8IV13 OTTHUMG00000130325 ENST00000377503.2:c.-3188A>T chr5.hg19:g.159742464T>A NA Q6ZN43|Q9H7W8 hg19 0.02 -0.385743 CCGxGAT COVERED NOVEL CCNJL-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000374064.2 5 3.907702 KEEP 0 0 0 13 375 TT 0.994391 0.91302 0 - 5 60 156 0 0 11.387548 36 60 1002 72 ENST00000377503.2 0.121951 0.918171 GABRA6 2559 __UNKNOWN__ __UNKNOWN__ 5 161112660 161112660 __UNKNOWN__ 5'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:161112660A>G ENST00000274545.5 + 0 98 GABRA6_ENST00000522269.1_Intron Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 NA NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897) TTAATGCCTTATTCGATTATT 0.483 NA TCGA Ovarian(5;0.080) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS4356.1 5q34 2012-06-22 ENSG00000145863 ENSG00000145863 2559 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4080 protein-coding gene gene with protein product GABA(A) receptor, alpha 6 137143 NA 8020978 Standard NM_000811 NA Approved uc003lyu.2 Q16445 OTTHUMG00000130351 ENST00000274545.5:c.-336A>G chr5.hg19:g.161112660A>G NA A8K096|Q4VAV2 hg19 CCDS4356.1 0.02 1.970831 CTTxTTC COVERED NOVEL GABRA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252707.2 2 10.832009 KEEP 0 0 0 36 1098 AA 0.999999 0.986153 0 + 23 60 776 0 0 71.882788 34 60 952 119 ENST00000274545.5 0.403509 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 161263175 161263175 __UNKNOWN__ IGR SNP A A G rs199706613|rs78598658|rs369806646 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:161263175A>G NA NA GABRA6 (133577 upstream) : GABRA1 (11021 downstream) NA NA NA aagaagaagaaggggaggagg 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.161263175A>G NA hg19 0.02 -0.236808 AGAxGGG UNCOVERED NOVEL 0 5 2.407678 KEEP 4 0 0 8 268 AA 0 0 0 7 60 234 2 0 20.602335 16 60 473 64 0.304348 0.612407 FBXW11 23291 __UNKNOWN__ __UNKNOWN__ 5 171377627 171377627 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:171377627T>C ENST00000296933.6 - 2 416 FBXW11_ENST00000393802.2_Intron|FBXW11_ENST00000425623.2_Intron|FBXW11_ENST00000265094.5_Intron NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055) centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) cggtggctcatgcctgtaatc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014596 CCDS34289.1, CCDS47340.1, CCDS47341.1 5q35.1 2013-01-09 2007-02-08 2004-06-16 ENSG00000072803 ENSG00000072803 23291 F-boxes / WD-40 domains, WD repeat domain containing 13607 protein-coding gene gene with protein product 605651 F-box and WD-40 domain protein 1B, F-box and WD-40 domain protein 11 FBXW1B NA 10531035, 10694485 Standard NM_012300 NM_033644 NA Approved KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11 uc003mbm.1 Q9UKB1 OTTHUMG00000163267 ENST00000296933.6:c.46-36218A>G chr5.hg19:g.171377627T>C NA B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6 hg19 CCDS47341.1 0.02 -0.263119 TCAxGCC COVERED NOVEL FBXW11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372381.1 3 2.707843 KEEP 0 0 0 9 272 TT 0.99254 0.688494 0 - 4 60 134 0 0 10.322923 24 60 702 57 ENST00000296933.6 0.142857 0.693668 NEURL1B 54492 __UNKNOWN__ __UNKNOWN__ 5 172068404 172068404 __UNKNOWN__ 5'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:172068404G>C ENST00000520919.1 + 0 136 NEURL1B_ENST00000369800.5_5'UTR|NEURL1B_ENST00000522853.1_5'UTR A8MQ27 NEU1B_HUMAN neuralized E3 ubiquitin protein ligase 1B NA NA Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) endometrium(2) 2 CGCGCCCGACGCAGCGATGGG 0.776 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 2 2 NA NA NA 5 NA NA 172068404 276 940 1216 SO:0001623 5_prime_UTR_variant CCDS47342.1 5q35.1 2013-10-24 2013-10-24 ENSG00000214357 ENSG00000214357 54492 35422 protein-coding gene gene with protein product 615893 neuralized homolog 1B (Drosophila) NA 17003037 Standard NM_001142651 NA Approved DKFZP761M1511, Neur2 uc003mbt.3 A8MQ27 OTTHUMG00000163281 ENST00000520919.1:c.-6G>C chr5.hg19:g.172068404G>C NA C9DQJ5|C9DQJ6|C9DQJ7 hg19 0.02 -0.289356 GACxCAG COVERED NOVEL NEURL1B-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000372478.1 0 4.207955 KEEP 0 0 0 14 486 GG 0.995343 0.757343 0 + 12 60 377 0 0 34.029809 21 60 649 69 ENST00000520919.1 0.363636 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 172238123 172238123 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:172238123T>C NA NA Y_RNA (31026 upstream) : RP11-536N17.1 (5500 downstream) NA NA NA cctgtagtcctagctactcag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.172238123T>C NA hg19 0.02 -0.324201 TCCxAGC COVERED NOVEL 0 4 4.493699 KEEP 0 0 0 15 456 TT 0.99649 0.832783 0 3 60 103 0 0 7.250027 33 60 932 72 0.083333 0.835716 ERGIC1 57222 __UNKNOWN__ __UNKNOWN__ 5 172344910 172344910 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:172344910A>G ENST00000523291.1 + 6 378 ERGIC1_ENST00000393784.3_Intron|ERGIC1_ENST00000326654.2_3'UTR Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 NA NA ER to Golgi vesicle-mediated transport (GO:0006888) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2) 9 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) agtggctcacacctgtaatcc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF267855 CCDS34292.1 5q35.1 2009-11-06 ENSG00000113719 ENSG00000113719 57222 29205 protein-coding gene gene with protein product NA 10574461, 15308636 Standard NM_020462 NM_001031711 NA Approved ERGIC32, ERGIC-32, KIAA1181, NET24 uc003mbw.4 Q969X5 OTTHUMG00000130520 ENST00000523291.1:c.376-2457A>G chr5.hg19:g.172344910A>G NA Q9H0L0|Q9H2J2|Q9ULN9 hg19 0.02 1.801093 CACxCCT COVERED NOVEL ERGIC1-013 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000329263.1 2 8.41953 KEEP 1 0 0 28 818 AA 0.999997 0.995081 0 + 5 60 148 0 0 9.613879 58 60 1680 111 ENST00000523291.1 0.079365 0.995084 SFXN1 94081 __UNKNOWN__ __UNKNOWN__ 5 174955174 174955174 __UNKNOWN__ 3'UTR SNP G G A rs273080 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:174955174G>A ENST00000321442.5 + 0 2660 NM_022754.5 NP_073591.2 Q9H9B4 SFXN1_HUMAN sideroflexin 1 NA NA erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) cation transmembrane transporter activity (GO:0008324) endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3) 15 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ggcctcccaaggtgctgggat 0.438 NA A||| 1699 0.339257 0.5877 0.2133 5008 , , NA 13846 0.245 NA 0.1392 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF327346 CCDS4394.1 5q35.3 2008-02-05 ENSG00000164466 ENSG00000164466 94081 Sideroflexins 16085 protein-coding gene gene with protein product 615569 NA Standard NM_022754 NM_022754 NA Approved FLJ12876 uc003mda.2 Q9H9B4 OTTHUMG00000130555 ENST00000321442.5:c.*1437G>A chr5.hg19:g.174955174G>A NA B3KPW3|D3DQN2|Q9HA53 hg19 CCDS4394.1 0.02 -0.40352 CAAxGTG COVERED NOVEL SFXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252980.2 2 3.00991 KEEP 0 0 0 10 367 GG 0.992708 0.927678 0 + 5 60 146 0 0 10.17411 40 60 1374 77 ENST00000321442.5 0.111111 0.934492 SIMC1 375484 __UNKNOWN__ __UNKNOWN__ 5 175723421 175723421 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:175723421T>C ENST00000430704.2 + 3 574 SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000443967.1_Intron|SIMC1_ENST00000429602.2_Intron Q8NDZ2 SIMC1_HUMAN SUMO-interacting motifs containing 1 NA NA SUMO polymer binding (GO:0032184) NA aatcccagcattttgggaggc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC037298 CCDS4398.2 5q35.2 2013-08-14 2012-11-14 2012-11-14 ENSG00000170085 ENSG00000170085 375484 24779 protein-coding gene gene with protein product oocyte maturation associated 1, platform element for inhibition of autolytic degradation chromosome 5 open reading frame 25 C5orf25 NA 23086935, 23707407 Standard NM_198567 NM_198567 NA Approved FLJ44216, OOMA1, PLEIAD uc003mds.4 Q8NDZ2 OTTHUMG00000130663 ENST00000430704.2:c.432+98T>C chr5.hg19:g.175723421T>C NA J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15 hg19 CCDS4398.2 0.02 -0.263106 GCAxTTT COVERED NOVEL SIMC1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329099.2 7 4.200363 KEEP 0 0 0 14 416 TT 0.995343 0.713975 0 + 3 60 100 0 0 7.394836 23 60 682 54 ENST00000430704.2 0.115385 0.717315 SIMC1 375484 __UNKNOWN__ __UNKNOWN__ 5 175740507 175740507 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:175740507T>C ENST00000430704.2 + 4 574 SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000443967.1_Intron|SIMC1_ENST00000332772.4_Intron Q8NDZ2 SIMC1_HUMAN SUMO-interacting motifs containing 1 NA NA SUMO polymer binding (GO:0032184) NA TTTTCAGCAGTCACCCTATTT 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC037298 CCDS4398.2 5q35.2 2013-08-14 2012-11-14 2012-11-14 ENSG00000170085 ENSG00000170085 375484 24779 protein-coding gene gene with protein product oocyte maturation associated 1, platform element for inhibition of autolytic degradation chromosome 5 open reading frame 25 C5orf25 NA 23086935, 23707407 Standard NM_198567 NM_198567 NA Approved FLJ44216, OOMA1, PLEIAD uc003mds.4 Q8NDZ2 OTTHUMG00000130663 ENST00000430704.2:c.433-187T>C chr5.hg19:g.175740507T>C NA J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15 hg19 CCDS4398.2 0.02 1.762868 CAGxCAC COVERED NOVEL SIMC1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329099.2 4 10.531955 KEEP 0 0 0 35 1105 TT 0.999999 0.987942 0 + 4 60 130 0 0 8.592018 54 60 1560 138 ENST00000430704.2 0.068966 0.987943 KIAA1191 57179 __UNKNOWN__ __UNKNOWN__ 5 175785761 175785761 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:175785761A>G ENST00000298569.4 - 3 562 KIAA1191_ENST00000393725.2_Intron|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Intron|KIAA1191_ENST00000393728.2_Intron NM_020444.3 NP_065177.2 Q96A73 P33MX_HUMAN KIAA1191 NA NA cytoplasm (GO:0005737) oxidoreductase activity (GO:0016491) endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) tgtaatcccaacactttggga 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC010448 CCDS4399.1, CCDS43402.1, CCDS75373.1 5q35.2 2008-02-05 ENSG00000122203 ENSG00000122203 57179 29209 protein-coding gene gene with protein product NA 10574461, 10565538 Standard NM_020444 XM_005265941 NA Approved FLJ21022 uc003mdy.3 Q96A73 OTTHUMG00000130656 ENST00000298569.4:c.28+722T>C chr5.hg19:g.175785761A>G NA B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9 hg19 CCDS4399.1 0.02 -0.385912 CCAxCAC COVERED NOVEL KIAA1191-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253146.2 6 3.009218 KEEP 0 0 0 10 320 AA 0.992708 0.919883 0 - 4 60 145 0 0 10.762815 36 60 1071 83 ENST00000298569.4 0.1 0.92664 FAF2 23197 __UNKNOWN__ __UNKNOWN__ 5 175882549 175882549 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:175882549G>A ENST00000261942.6 + 1 116 FAF2_ENST00000510446.1_Intron NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 NA NA lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986) Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811) lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 ccaggagtttgagaccagcct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015791 CCDS34296.1 5q35.2 2011-06-28 2008-07-25 2008-07-25 ENSG00000113194 ENSG00000113194 23197 UBX domain containing 24666 protein-coding gene gene with protein product expressed in T cells and eosinophils in atopic dermatitis, UBX domain protein 3B UBX domain containing 8 UBXD8 NA 10048485, 12372427 Standard NM_014613 NM_014613 NA Approved ETEA, KIAA0887, UBXN3B uc003mej.4 Q96CS3 OTTHUMG00000163228 ENST00000261942.6:c.63+7078G>A chr5.hg19:g.175882549G>A NA O94963|Q8IUF2|Q9BRP2|Q9BVM7 hg19 CCDS34296.1 0.02 -0.096482 TTTxAGA UNCOVERED NOVEL FAF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372194.1 12 2.708718 KEEP 11 0 0 9 312 GG 0.99257 0.119541 0 + 3 36 87 0 0 7.478234 7 60 236 39 ENST00000261942.6 0.3 0.120436 PRELID1 27166 __UNKNOWN__ __UNKNOWN__ 5 176732477 176732477 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:176732477A>G ENST00000503216.1 + 3 483 PRELID1_ENST00000303204.4_Intron NM_001271828.1|NM_013237.2 NP_001258757.1|NP_037369.1 Q9Y255 PRLD1_HUMAN PRELI domain containing 1 NA NA apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580) mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234) endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 7 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) caaagtgctaagattacaggc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC013748 CCDS4415.1, CCDS64328.1 5q35.3 2010-01-18 ENSG00000169230 ENSG00000169230 27166 30255 protein-coding gene gene with protein product protein of relevant evolutionary and lymphoid interest, px19-like protein 605733 NA 10784606, 14640972 Standard NM_013237 NM_013237 NA Approved CGI-106, PX19, PRELI uc003mfx.4 Q9Y255 OTTHUMG00000130847 ENST00000503216.1:c.319-395A>G chr5.hg19:g.176732477A>G NA B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9 hg19 0.02 1.666319 CTAxGAT COVERED NOVEL PRELID1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000372709.1 5 8.724761 KEEP 0 0 0 29 918 AA 0.999997 0.99716 0 + 4 60 131 1 0 8.60097 57 60 1693 116 ENST00000503216.1 0.065574 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 176784779 176784779 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:176784779C>T NA NA LMAN2 (5926 upstream) : RGS14 (58 downstream) NA NA NA tgtgtgtgcgcgtgtgtgtgt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.176784779C>T NA hg19 0.02 2.604693 GCGxGTG COVERED NOVEL 0 17 9.262479 KEEP 0 1 32 42 1449 CC 1 0.999995 0 6 60 173 0 0 10.321433 94 60 3105 199 0.06 0.999995 RP11-1277A3.2 0 __UNKNOWN__ __UNKNOWN__ 5 177075899 177075899 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:177075899T>C ENST00000515045.1 - 0 189 NR_026921.1 NA NA NA cctgcagaattatgagccaaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000515045.1: chr5.hg19:g.177075899T>C NA hg19 0.02 1.590653 AATxATG COVERED NOVEL RP11-1277A3.2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000373167.1 2 6.016602 KEEP 4 0 0 20 600 TT 0.999863 0.984026 0 - 4 50 129 0 0 8.621232 50 50 1340 87 ENST00000515045.1 0.074074 0.984161 N4BP3 23138 __UNKNOWN__ __UNKNOWN__ 5 177551284 177551284 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:177551284C>A ENST00000274605.5 + 0 4276 NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 NA NA cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCAGCTGTGCCAGAAACCAA 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002339 CCDS34307.1 5q35.3 2012-05-17 ENSG00000145911 23138 29852 protein-coding gene gene with protein product NA 9205841, 11717310 Standard NM_015111 XM_006714834 NA Approved LZTS4 uc003mik.1 O15049 ENST00000274605.5:c.*2282C>A chr5.hg19:g.177551284C>A NA B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3 hg19 CCDS34307.1 0.02 7.651425 GTGxCAG COVERED NOVEL N4BP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373552.2 0 25.281863 KEEP 0 0 0 84 2939 CC 1 1 0 + 22 60 641 0 0 41.382606 252 70 8361 478 ENST00000274605.5 0.080292 1 CLK4 57396 __UNKNOWN__ __UNKNOWN__ 5 178033702 178033702 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:178033702A>G ENST00000316308.4 - 11 1303 NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 NA NA protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484) nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) ggtggctcacacctgtaatcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF294429 CCDS4437.1 5q35 2008-05-02 ENSG00000113240 ENSG00000113240 57396 CDC-like kinases 13659 protein-coding gene gene with protein product 607969 NA 11170754 Standard NM_020666 NA Approved uc003mjf.1 Q9HAZ1 OTTHUMG00000130893 ENST00000316308.4:c.1135-1319T>C chr5.hg19:g.178033702A>G NA hg19 CCDS4437.1 0.02 -0.228053 CACxCCT COVERED NOVEL CLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253479.2 10 3.007972 KEEP 1 0 0 10 300 AA 0.992708 0.578679 0 - 3 60 100 0 0 7.564826 20 60 607 51 ENST00000316308.4 0.130435 0.58293 ZNF354B 117608 __UNKNOWN__ __UNKNOWN__ 5 178310821 178310821 __UNKNOWN__ Silent SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:178310821T>C ENST00000322434.3 + 5 1594 c.1368T>C c.(1366-1368)caT>caC p.H456H NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 456 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTATTATTCATGAGCGAATTC 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 76 77 77 NA NA NA 5 NA NA 178310821 2203 4300 6503 SO:0001819 synonymous_variant AK057737 CCDS4439.1 5q35.3 2013-01-08 ENSG00000178338 ENSG00000178338 117608 Zinc fingers, C2H2-type, - 17197 protein-coding gene gene with protein product NA Standard NM_058230 NM_058230 NA Approved KID2, FLJ25008 uc003mjl.3 Q96LW1 OTTHUMG00000130896 ENST00000322434.3:c.1368T>C chr5.hg19:g.178310821T>C NA A8K0V2|Q5U5Z4 hg19 CCDS4439.1 0.02 1.473669 TCAxGAG COVERED NOVEL ZNF354B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253482.1 5 9.760175 KEEP 2 1 30 43 1323 TT 1 0.986153 0 + 4 27 124 1 0 7.992828 54 60 1594 147 ENST00000322434.3 0.068966 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 178522870 178522870 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:178522870T>C NA NA ZNF354C (12332 upstream) : ADAMTS2 (14981 downstream) NA NA NA ccatgttggctaggatggtct 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.178522870T>C NA hg19 0.02 -0.122775 GGCxAGG COVERED NOVEL 0 4 2.404704 KEEP 2 0 0 8 231 TT 0.99257 0.194853 0 3 46 96 0 0 7.982304 10 60 284 31 0.230769 0.196312 ADAMTS2 9509 __UNKNOWN__ __UNKNOWN__ 5 178578171 178578171 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:178578171A>T ENST00000251582.7 - 10 1731 ADAMTS2_ENST00000274609.5_Missense_Mutation_p.Y554N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 NA NA collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) gtgctgggataacaggcatga 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ003125 CCDS4444.1, CCDS34311.1 5q23-q24 2008-07-18 2005-08-19 ENSG00000087116 ENSG00000087116 9509 ADAM metallopeptidases with thrombospondin type 1 motif 218 protein-coding gene gene with protein product procollagen I N-proteinase, procollagen N-endopeptidase 604539 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2 NA 10094461, 15373769 Standard NM_014244 NM_014244 NA Approved ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI uc003mjw.3 O95450 OTTHUMG00000130915 ENST00000251582.7:c.1629+971T>A chr5.hg19:g.178578171A>T NA hg19 CCDS4444.1 0.02 2.265738 GATxACA COVERED . . . . . . . . . . A 8.177 0.792972 0.16327 . . ENSG00000087116 ENST00000274609 T 0.59224 0.28 0.235 0.235 0.15431 . . . . . T 0.40767 0.1130 . . . 0.09310 N 1 B 0.26547 0.152 B 0.27500 0.08 T 0.27739 -1.0065 7 0.33940 T 0.23 . . . . . 554 O95450-2 . N 554 ENSP00000274609:Y554N ENSP00000274609:Y554N Y - 1 0 ADAMTS2 178510777 0.886000 0.30341 0.220000 0.23810 0.325000 0.28411 0.349000 0.20055 0.263000 0.21812 0.260000 0.18958 TAT NOVEL ADAMTS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253507.1 14 3.208121 KEEP 0 3 86 41 1243 AA 1 0.999989 0 - 7 60 172 0 0 9.670703 90 60 2520 197 ENST00000251582.7 0.072165 0.999989 ADAMTS2 9509 __UNKNOWN__ __UNKNOWN__ 5 178768281 178768281 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:178768281A>G ENST00000251582.7 - 2 636 ADAMTS2_ENST00000274609.5_Intron NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 NA NA collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ccagcactttaggaggccaag 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ003125 CCDS4444.1, CCDS34311.1 5q23-q24 2008-07-18 2005-08-19 ENSG00000087116 ENSG00000087116 9509 ADAM metallopeptidases with thrombospondin type 1 motif 218 protein-coding gene gene with protein product procollagen I N-proteinase, procollagen N-endopeptidase 604539 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2 NA 10094461, 15373769 Standard NM_014244 NM_014244 NA Approved ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI uc003mjw.3 O95450 OTTHUMG00000130915 ENST00000251582.7:c.534+2486T>C chr5.hg19:g.178768281A>G NA hg19 CCDS4444.1 0.02 1.988387 TTTxGGA COVERED NOVEL ADAMTS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253507.1 7 4.212417 KEEP 0 0 0 14 429 AA 0.995343 0.979578 0 - 4 60 129 0 0 8.72414 47 60 1335 99 ENST00000251582.7 0.078431 0.984161 RUFY1 80230 __UNKNOWN__ __UNKNOWN__ 5 179015938 179015938 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:179015938C>G ENST00000437570.2 + 8 1049 RUFY1_ENST00000319449.4_Intron|RUFY1_ENST00000393438.2_Intron|RUFY1_ENST00000377001.2_Intron NM_001040451.2 NP_001035541.1 Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 NA NA endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100) cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) caccatgttgcccaggctggt 0.532 NA HNSCC(44;0.11) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF361055 CCDS4445.2, CCDS34312.1 5q35.3 2008-02-05 ENSG00000176783 ENSG00000176783 80230 Zinc fingers, FYVE domain containing 19760 protein-coding gene gene with protein product 610327 NA 11877430 Standard NM_001040451 NM_001040451 NA Approved FLJ22251, ZFYVE12, RABIP4 uc003mka.2 Q96T51 OTTHUMG00000130913 ENST00000437570.2:c.703-609C>G chr5.hg19:g.179015938C>G NA Q59FF3|Q71S93|Q9H6I3 hg19 CCDS34312.1 0.02 -0.219301 TTGxCCA COVERED NOVEL RUFY1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371901.1 11 2.708674 KEEP 0 0 0 9 308 CC 0.99254 0.548763 0 + 3 60 102 0 0 7.826633 19 60 632 38 ENST00000437570.2 0.136364 0.552887 CANX 821 __UNKNOWN__ __UNKNOWN__ 5 179146862 179146862 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:179146862T>G ENST00000247461.4 + 9 1225 CANX_ENST00000512607.2_Intron|CANX_ENST00000504734.1_Intron|CANX_ENST00000415618.2_Intron|CANX_ENST00000452673.2_Intron NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin NA NA aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488) axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Antihemophilic Factor(DB00025)|Tenecteplase(DB00031) tcactctgtctcccaggctgg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L18887 CCDS4447.1 5q35 2008-07-18 ENSG00000127022 ENSG00000127022 821 1473 protein-coding gene gene with protein product major histocompatibility complex class I antigen-binding protein p88 114217 NA 1326756, 8136357 Standard NM_001024649 NM_001746 NA Approved CNX, IP90, P90 uc003mkl.3 P27824 OTTHUMG00000130910 ENST00000247461.4:c.1025+80T>G chr5.hg19:g.179146862T>G NA B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3 hg19 CCDS4447.1 0.02 -0.324461 GTCxCCC COVERED NOVEL CANX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253500.2 4 3.911927 KEEP 1 0 0 13 411 TT 0.994391 0.894269 0 + 3 60 100 2 1 7.153061 28 60 803 64 ENST00000247461.4 0.096774 0.899314 MAML1 9794 __UNKNOWN__ __UNKNOWN__ 5 179218705 179218705 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:179218705A>G ENST00000503050.1 + 5 1811 mastermind-like 1 (Drosophila) NA NA central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) cagcctgggcaacagagcacg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D83785 CCDS34315.1 5q35 2008-07-18 2001-11-28 ENSG00000161021 9794 13632 protein-coding gene gene with protein product mastermind homolog 605424 mastermind (drosophila)-like 1 NA 11101851, 11390662 Standard NM_014757 NM_014757 NA Approved KIAA0200, Mam-1 uc003mkm.3 Q92585 ENST00000503050.1:c.1812-60A>G chr5.hg19:g.179218705A>G NA hg19 0.02 1.841764 GGCxACA COVERED NOVEL MAML1-005 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000372348.1 6 3.134311 KEEP 0 1 33 22 668 AA 0.999892 0.96367 0 + 4 60 129 2 0 9.032636 39 60 1147 87 ENST00000503050.1 0.093023 0.963774 GNB2L1 10399 __UNKNOWN__ __UNKNOWN__ 5 180669580 180669580 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr5:180669580T>C ENST00000511900.1 - 2 189 GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000456394.2_Intron|GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000512805.1_Intron|GNB2L1_ENST00000505461.1_Intron P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935) cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169) lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) tttcttgagatggagtctcgc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M24194 CCDS34324.1 5q35.3 2013-01-10 ENSG00000204628 10399 WD repeat domain containing 4399 protein-coding gene gene with protein product Receptor for Activated C Kinase 1 176981 NA 8302854, 2499885 Standard NM_006098 NM_006098 NA Approved Gnb2-rs1, RACK1, H12.3 uc003mni.1 P63244 ENST00000511900.1:c.110-235A>G chr5.hg19:g.180669580T>C NA B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47 hg19 0.02 3.531542 AGAxGGA COVERED . . . . . . . . . . T 6.801 0.516838 0.13005 . . ENSG00000204628 ENST00000502844 T 0.55413 0.52 0.986 -0.245 0.13027 . . . . . T 0.34424 0.0897 . . . 0.09310 N 0.999997 . . . . . . T 0.25222 -1.0138 6 0.24483 T 0.36 . 4.1572 0.10266 0.0:0.5296:0.0:0.4704 . . . . R 14 ENSP00000422029:H14R ENSP00000422029:H14R H - 2 0 GNB2L1 180602186 0.877000 0.30153 0.001000 0.08648 0.020000 0.10135 -0.076000 0.11412 -0.085000 0.12573 0.260000 0.18958 CAT NOVEL GNB2L1-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000373430.1 7 16.06116 KEEP 0 1 36 66 1981 TT 1 0.999992 0 - 7 60 224 1 1 14.861949 89 60 2655 228 ENST00000511900.1 0.072917 0.999992 IRF4 3662 __UNKNOWN__ __UNKNOWN__ 6 410417 410417 __UNKNOWN__ 3'UTR SNP A A G rs1050979 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:410417A>G ENST00000380956.4 + 0 4301 NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337) cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634) protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CGCCCTACAGAAAACCCAGCT 0.438 NA T IGH@ MM A||| 1563 0.312101 0.0318 0.4409 5008 , , NA 19707 0.3115 NA 0.4751 False NA ,,, NA NA NA 2504 0.4325 NA NA NA Dom yes 6 6p25-p23 3662 interferon regulatory factor 4 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U52682 CCDS4469.1 6p25-p23 2008-08-29 ENSG00000137265 ENSG00000137265 3662 6119 protein-coding gene gene with protein product 601900 MUM1 NA 8921401, 18417578 Standard NM_002460 NA Approved LSIRF uc003msz.4 Q15306 OTTHUMG00000016294 ENST00000380956.4:c.*2819A>G chr6.hg19:g.410417A>G NA Q5VUI7|Q99660 hg19 CCDS4469.1 0.02 -0.412131 CAGxAAA COVERED NOVEL IRF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043638.1 1 7.822784 KEEP 0 0 0 26 807 AA 0.999957 0.941701 0 + 3 60 97 0 0 6.318762 43 60 1231 102 ENST00000380956.4 0.065217 0.941741 IRF4 3662 __UNKNOWN__ __UNKNOWN__ 6 411064 411064 __UNKNOWN__ 3'UTR SNP A A G rs872071 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:411064A>G ENST00000380956.4 + 0 4948 NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337) cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634) protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) AGTAGAGGGGACGTGAGAGAA 0.468 NA T IGH@ MM A||| 1559 0.311302 0.031 0.4409 5008 , , NA 18737 0.3105 NA 0.4742 False NA ,,, NA NA NA 2504 0.4315 NA NA NA Dom yes 6 6p25-p23 3662 interferon regulatory factor 4 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U52682 CCDS4469.1 6p25-p23 2008-08-29 ENSG00000137265 ENSG00000137265 3662 6119 protein-coding gene gene with protein product 601900 MUM1 NA 8921401, 18417578 Standard NM_002460 NA Approved LSIRF uc003msz.4 Q15306 OTTHUMG00000016294 ENST00000380956.4:c.*3466A>G chr6.hg19:g.411064A>G NA Q5VUI7|Q99660 hg19 CCDS4469.1 0.02 -0.333249 GGGxCGT COVERED NOVEL IRF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043638.1 1 13.234404 KEEP 0 0 0 44 1354 AA 1 0.851984 0 + 3 60 100 0 0 6.876113 35 60 1009 99 ENST00000380956.4 0.078947 0.851984 GMDS 2762 __UNKNOWN__ __UNKNOWN__ 6 2170963 2170963 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:2170963T>C ENST00000380815.4 - 2 372 GMDS_ENST00000530927.1_Intron NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase NA NA 'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401) GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) ggcgcggtggttcacgcctgt 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF042377 CCDS4474.1, CCDS58994.1 6p25 2011-09-14 ENSG00000112699 ENSG00000112699 2762 4.2.1.47 Short chain dehydrogenase/reductase superfamily / Extended SDR fold 4369 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 3E, member 1 602884 NA 9525924, 19027726 Standard NM_001500 NA Approved GMD, SDR3E1 uc003mtq.3 O60547 OTTHUMG00000016143 ENST00000380815.4:c.103-45998A>G chr6.hg19:g.2170963T>C NA E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9 hg19 CCDS4474.1 0.02 -0.18418 TGGxTCA COVERED NOVEL GMDS-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000043380.3 7 3.009036 KEEP 1 0 0 10 315 TT 0.992708 0.42039 0 - 3 60 110 0 0 8.760581 17 60 500 48 ENST00000380815.4 0.15 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 2929327 2929327 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:2929327G>A NA NA RP1-90J20.2 (11360 upstream) : SERPINB6 (19065 downstream) NA NA NA ttggctgggcgcggtggctca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.2929327G>A NA hg19 0.02 -0.236706 GGCxCGG UNCOVERED NOVEL 0 10 2.708826 KEEP 2 0 0 9 322 GG 0 0 0 4 60 122 1 0 9.263675 22 60 676 45 0.153846 0.612407 PSMG4 389362 __UNKNOWN__ __UNKNOWN__ 6 3244166 3244166 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:3244166A>G ENST00000380306.4 + 2 356 Q5JS54 PSMG4_HUMAN proteasome (prosome, macropain) assembly chaperone 4 NA NA endometrium(1) 1 ccaaagggctaggattacagg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47360.1, CCDS47361.1, CCDS47362.1 6p25.2 2010-06-23 2008-02-25 2008-02-25 ENSG00000180822 ENSG00000180822 389362 21108 protein-coding gene gene with protein product chromosome 6 open reading frame 86 C6orf86 NA 17707236 Standard NM_001128591 NA Approved PAC4 uc010jnl.1 Q5JS54 OTTHUMG00000014142 ENST00000380306.4:c.75-11119A>G chr6.hg19:g.3244166A>G NA C9J2F8|F8WBZ2|Q5JS53|Q5JS56 hg19 0.02 1.757181 GCTxGGA COVERED NOVEL PSMG4-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000039675.2 13 5.716356 KEEP 0 0 0 19 579 AA 0.99986 0.997413 0 + 4 60 131 0 0 8.515926 60 60 1753 127 ENST00000380306.4 0.0625 0.997553 RP3-406P24.3 0 __UNKNOWN__ __UNKNOWN__ 6 4020565 4020565 __UNKNOWN__ RNA SNP A A G rs183027204 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:4020565A>G ENST00000415144.1 - 0 172 NA NA NA ttgagatggaatcttgctctg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000415144.1: chr6.hg19:g.4020565A>G NA hg19 0.02 3.745789 GGAxTCT COVERED NOVEL RP3-406P24.3-001 KNOWN basic antisense NA antisense OTTHUMT00000039703.1 17 6.673187 KEEP 1 5 165 80 2293 AA 1 1 0 - 5 60 169 1 0 10.521768 102 60 2774 289 ENST00000415144.1 0.046729 1 FAM217A 222826 __UNKNOWN__ __UNKNOWN__ 6 4069133 4069133 __UNKNOWN__ Missense_Mutation SNP T T C rs10485172 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:4069133T>C ENST00000274673.3 - 7 1727 c.1324A>G c.(1324-1326)Atg>Gtg p.M442V FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 F217A_HUMAN family with sequence similarity 217, member A 442 NA M -> V (in dbSNP:rs10485172). NA GAAACTGGCATTGGAGACCTC 0.413 NA T||| 402 0.0802716 0.1377 0.0937 5008 , , NA 18737 0.006 NA 0.1243 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 T VAL/MET 662,3744 281.1+/-275.7 54,554,1595 100 97 98 NA 1324 1 0.2 6 dbSNP_119 98 971,7629 211.8+/-252.3 54,863,3383 yes missense C6orf146 NM_173563.2 21 108,1417,4978 CC,CT,TT NA 11.2907,15.025,12.5557 benign 442/509 4069133 1633,11373 2203 4300 6503 SO:0001583 missense BC039349 CCDS4489.1 6p25.1 2012-02-07 2012-02-07 2012-02-07 ENSG00000145975 ENSG00000145975 222826 21362 protein-coding gene gene with protein product chromosome 6 open reading frame 146 C6orf146 NA Standard NM_173563 NM_173563 NA Approved MGC43581 uc003mvx.3 Q8IXS0 OTTHUMG00000014159 ENST00000274673.3:c.1324A>G chr6.hg19:g.4069133T>C ENSP00000274673:p.Met442Val NA Q5JYK1 hg19 CCDS4489.1 0.02 3.833216 GCAxTGG COVERED 213 0.09752747252747253 71 0.1443089430894309 35 0.09668508287292818 5 0.008741258741258742 102 0.1345646437994723 T 0.925 -0.714704 0.03206 0.15025 0.112907 ENSG00000145975 ENST00000274673;ENST00000538080;ENST00000470599 T 0.14022 2.54 4.94 1.03 0.20045 . 0.772232 0.12048 N 0.504377 T 0.03434 0.0099 L 0.46157 1.445 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.37686 -0.9695 9 0.30854 T 0.27 -0.9412 4.0433 0.09761 0.0:0.1922:0.1795:0.6283 rs10485172;rs17734154;rs60013304;rs10485172 442 Q8IXS0 CF146_HUMAN V 442;289;570 ENSP00000274673:M442V ENSP00000274673:M442V M - 1 0 C6orf146 4014132 0.001000 0.12720 0.190000 0.23270 0.195000 0.23768 -0.040000 0.12104 0.384000 0.24942 -0.361000 0.07541 ATG NOVEL FAM217A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352577.2 3 30.525872 KEEP 0 1 30 112 3586 TT 1 0.999998 0 - 5 60 175 0 0 10.901963 113 60 3357 329 ENST00000274673.3 0.042373 0.999998 LYRM4 57128 __UNKNOWN__ __UNKNOWN__ 6 5113630 5113630 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:5113630T>C ENST00000330636.4 - 3 413 LYRM4_ENST00000468929.1_Intron|LYRM4_ENST00000464010.1_Intron NM_020408.4 NP_065141.3 Q9HD34 LYRM4_HUMAN LYR motif containing 4 NA NA small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|nucleus (GO:0005634) endometrium(1) 1 Ovarian(93;0.11) all_hematologic(90;0.0901) ccagcctgggtgacagagcga 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(130;1006 2426 17608 36797) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF258559 CCDS4493.1, CCDS54961.1 6p25.1 2008-02-05 2006-09-19 2006-09-19 ENSG00000214113 ENSG00000214113 57128 LYR motif containing 21365 protein-coding gene gene with protein product 613311 chromosome 6 open reading frame 149 C6orf149 NA Standard NM_020408 XM_005249239 NA Approved CGI-203, ISD11 uc021ykw.1 Q9HD34 OTTHUMG00000014173 ENST00000330636.4:c.208-3905A>G chr6.hg19:g.5113630T>C NA A8K543|Q5XKP1 hg19 CCDS4493.1 0.02 1.809866 GGGxGAC COVERED NOVEL LYRM4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000353461.3 6 5.714798 KEEP 0 0 0 19 547 TT 0.999863 0.994947 0 - 4 60 133 1 0 8.771555 58 60 1690 126 ENST00000330636.4 0.064516 0.995084 SSR1 6745 __UNKNOWN__ __UNKNOWN__ 6 7269062 7269062 __UNKNOWN__ 3'UTR SNP G G C rs116056545 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:7269062G>C ENST00000474597.1 - 0 1284 P43307 SSRA_HUMAN signal sequence receptor, alpha NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) GGCAGAGTAGGACTGGTTTCC 0.592 NA G||| 88 0.0175719 0.0635 0.0043 5008 , , NA 15125 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4499.1 6p24.3 2010-11-24 2008-08-26 ENSG00000124783 ENSG00000124783 6745 11323 protein-coding gene gene with protein product translocon-associated protein alpha 600868 NA Standard NM_001292008 NA Approved TRAPA uc003mxf.4 P43307 OTTHUMG00000014202 ENST00000474597.1:c.*301C>G chr6.hg19:g.7269062G>C NA A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49 hg19 0.02 5.900215 TAGxACT COVERED NOVEL SSR1-003 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000353162.1 4 20.757241 KEEP 0 0 0 69 2278 GG 1 1 0 - 59 60 1966 0 0 177.64493 108 60 3491 313 ENST00000474597.1 0.353293 1 SSR1 6745 __UNKNOWN__ __UNKNOWN__ 6 7279799 7279799 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:7279799A>G ENST00000474597.1 - 9 959 RP11-69L16.4_ENST00000379928.4_RNA P43307 SSRA_HUMAN signal sequence receptor, alpha NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) ggtggctcacacctgtaatcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4499.1 6p24.3 2010-11-24 2008-08-26 ENSG00000124783 ENSG00000124783 6745 11323 protein-coding gene gene with protein product translocon-associated protein alpha 600868 NA Standard NM_001292008 NA Approved TRAPA uc003mxf.4 P43307 OTTHUMG00000014202 ENST00000474597.1:c.872+10301T>C chr6.hg19:g.7279799A>G NA A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49 hg19 0.02 -0.333171 CACxCCT COVERED NOVEL SSR1-003 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000353162.1 14 2.708076 KEEP 0 0 0 9 276 AA 0.99254 0.845628 0 - 4 60 122 0 0 8.764411 30 60 857 64 ENST00000474597.1 0.117647 0.851984 SSR1 6745 __UNKNOWN__ __UNKNOWN__ 6 7279827 7279827 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:7279827T>G ENST00000474597.1 - 9 959 RP11-69L16.4_ENST00000379928.4_RNA P43307 SSRA_HUMAN signal sequence receptor, alpha NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) ttgggaggcctaggcaggtgg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4499.1 6p24.3 2010-11-24 2008-08-26 ENSG00000124783 ENSG00000124783 6745 11323 protein-coding gene gene with protein product translocon-associated protein alpha 600868 NA Standard NM_001292008 NA Approved TRAPA uc003mxf.4 P43307 OTTHUMG00000014202 ENST00000474597.1:c.872+10273A>C chr6.hg19:g.7279827T>G NA A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49 hg19 0.02 -0.228017 GCCxAGG COVERED NOVEL SSR1-003 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000353162.1 11 2.407065 KEEP 0 0 0 8 246 AT 0.99254 0.636563 0 - 3 60 94 0 0 6.795522 23 60 662 55 ENST00000474597.1 0.115385 0.641347 SSR1 6745 __UNKNOWN__ __UNKNOWN__ 6 7287102 7287102 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:7287102A>G ENST00000244763.4 - 0 3942 RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000474597.1_Intron NM_003144.3 NP_003135.2 P43307 SSRA_HUMAN signal sequence receptor, alpha NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) ccgagatcgcaccactgcact 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4499.1 6p24.3 2010-11-24 2008-08-26 ENSG00000124783 ENSG00000124783 6745 11323 protein-coding gene gene with protein product translocon-associated protein alpha 600868 NA Standard NM_001292008 NA Approved TRAPA uc003mxf.4 P43307 OTTHUMG00000014202 ENST00000244763.4:c.*2995T>C chr6.hg19:g.7287102A>G NA A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49 hg19 CCDS4499.1 0.02 -0.315751 CGCxCCA COVERED NOVEL SSR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039775.2 1 3.609775 KEEP 2 0 0 12 365 AA 0.993634 0.813254 0 - 4 60 126 0 0 9.394668 26 60 773 55 ENST00000244763.4 0.133333 0.818465 CAGE1 285782 __UNKNOWN__ __UNKNOWN__ 6 7329448 7329448 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:7329448C>G ENST00000502583.1 - 13 3043 CAGE1_ENST00000338150.4_Missense_Mutation_p.D809H|CAGE1_ENST00000296742.7_Intron|CAGE1_ENST00000379918.4_Intron|CAGE1_ENST00000512086.1_Intron|SSR1_ENST00000488834.1_Intron NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 NA NA breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) ttacaggcgtcagccaccgcg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC026194 CCDS47367.1, CCDS54964.1, CCDS54965.1 6p24.3 2009-08-06 2005-01-26 2005-01-27 ENSG00000164304 ENSG00000164304 285782 21622 protein-coding gene gene with protein product cancer/testis antigen 95 608304 cancer/testis antigen 3 CTAG3 NA 12531476 Standard NM_175745 NM_205864 NA Approved bA69L16.7, CT95 uc003mxl.2 Q8TC20 OTTHUMG00000014200 ENST00000502583.1:c.2478+633G>C chr6.hg19:g.7329448C>G NA D6RCT9|Q5TAM0|Q86TM4|Q8N7R5 hg19 CCDS54965.1 0.02 1.725111 CGTxAGC COVERED . . . . . . . . . . G 0.380 -0.928988 0.02359 . . ENSG00000164304 ENST00000338150 T 0.35605 1.3 0.235 0.235 0.15431 . . . . . T 0.08846 0.0219 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.35076 -0.9803 7 0.87932 D 0 . . . . . 809 Q8TC20-3 . H 809 ENSP00000338107:D809H ENSP00000338107:D809H D - 1 0 CAGE1 7274447 0.000000 0.05858 0.004000 0.12327 0.004000 0.04260 -2.831000 0.00743 -0.656000 0.05380 -0.647000 0.03941 GAC NOVEL CAGE1-001 NOVEL non_canonical_conserved|not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039772.2 8 6.621199 KEEP 0 0 0 22 770 CC 0.999879 0.999647 0 - 5 60 176 0 0 11.894361 74 60 2394 154 ENST00000502583.1 0.063291 0.999768 TMEM14B 81853 __UNKNOWN__ __UNKNOWN__ 6 10756712 10756712 __UNKNOWN__ Silent SNP C C T rs143087269 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:10756712C>T ENST00000379542.5 + 6 473 c.306C>T c.(304-306)gcC>gcT p.A102A SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000379530.3_Silent_p.A68A|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000473276.1_Missense_Mutation_p.R43C|TMEM14B_ENST00000467317.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_030969.3 NP_112231.3 Q9NUH8 TM14B_HUMAN transmembrane protein 14B 102 NA integral component of membrane (GO:0016021) p.A102A(2) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2) 11 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) TGCTGATGGCCGCCAAAGTTG 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - coding silent(2) prostate(1)|central_nervous_system(1) 153 131 138 NA NA NA 6 NA NA 10756712 2203 4300 6503 SO:0001819 synonymous_variant AL024498 CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1 6p25.1-p23 2008-08-12 ENSG00000137210 ENSG00000137210 81853 21384 protein-coding gene gene with protein product NA Standard NM_030969 NM_030969 NA Approved MGC1223 uc003mzk.4 Q9NUH8 OTTHUMG00000014246 ENST00000379542.5:c.306C>T chr6.hg19:g.10756712C>T NA Q5THN7|Q5THN8|Q96IX7|Q9BVN8 hg19 CCDS4515.1 0.02 2.949808 GGCxGCC COVERED . . . . . . . . . . C 9.245 1.039323 0.19669 . . ENSG00000137210 ENST00000473276 T 0.59083 0.29 3.75 -2.69 0.06022 . . . . . T 0.50599 0.1625 . . . 0.80722 D 1 . . . . . . T 0.61763 -0.6996 6 0.87932 D 0 . 10.1452 0.42760 0.0:0.2374:0.0:0.7626 . . . . C 43 ENSP00000420580:R43C ENSP00000420580:R43C R + 1 0 TMEM14B 10864698 0.990000 0.36364 0.985000 0.45067 0.897000 0.52465 -0.257000 0.08745 -0.525000 0.06391 -0.312000 0.09012 CGC NOVEL TMEM14B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039836.1 4 5.62055 KEEP 0 3 101 54 1788 CC 1 1 0 + 7 60 213 0 0 12.913582 119 60 3838 277 ENST00000379542.5 0.055556 1 TMEM14B 81853 __UNKNOWN__ __UNKNOWN__ 6 10756728 10756728 __UNKNOWN__ Missense_Mutation SNP C C T rs72821581 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:10756728C>T ENST00000379542.5 + 6 489 c.322C>T c.(322-324)Cgt>Tgt p.R108C SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000379530.3_Missense_Mutation_p.R74C|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000473276.1_Missense_Mutation_p.S48L|TMEM14B_ENST00000467317.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_030969.3 NP_112231.3 Q9NUH8 TM14B_HUMAN transmembrane protein 14B 108 NA integral component of membrane (GO:0016021) p.R108C(4) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2) 11 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) AGTTGGAGTTCGTATGTTGAT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) skin(2)|NS(1)|prostate(1) 162 139 147 NA NA NA 6 NA NA 10756728 2203 4300 6503 SO:0001583 missense AL024498 CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1 6p25.1-p23 2008-08-12 ENSG00000137210 ENSG00000137210 81853 21384 protein-coding gene gene with protein product NA Standard NM_030969 NM_030969 NA Approved MGC1223 uc003mzk.4 Q9NUH8 OTTHUMG00000014246 ENST00000379542.5:c.322C>T chr6.hg19:g.10756728C>T ENSP00000368858:p.Arg108Cys NA Q5THN7|Q5THN8|Q96IX7|Q9BVN8 hg19 CCDS4515.1 0.02 3.028724 GTTxGTA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 5.745|5.745 0.321925|0.321925 0.10900|0.10900 .|. .|. ENSG00000137210|ENSG00000137210 ENST00000472062;ENST00000379542;ENST00000379530|ENST00000473276 T;T|T 0.26660|0.56941 2.12;1.72|0.43 3.75|3.75 1.3|1.3 0.21679|0.21679 .|. 0.473115|. 0.27366|. N|. 0.019688|. T|T 0.39517|0.39517 0.1081|0.1081 L|L 0.57536|0.57536 1.79|1.79 0.09310|0.09310 N|N 1|1 P;P|. 0.49635|. 0.926;0.917|. B;B|. 0.42653|. 0.226;0.394|. T|T 0.36359|0.36359 -0.9751|-0.9751 10|7 0.56958|0.87932 D|D 0.05|0 .|. 9.9351|9.9351 0.41545|0.41545 0.4256:0.5744:0.0:0.0|0.4256:0.5744:0.0:0.0 .|. 74;108|. Q5THN7;Q9NUH8|. .;TM14B_HUMAN|. C|L 108;108;74|48 ENSP00000368858:R108C;ENSP00000368845:R74C|ENSP00000420580:S48L ENSP00000368845:R74C|ENSP00000420580:S48L R|S +|+ 1|2 0|0 TMEM14B|TMEM14B 10864714|10864714 0.007000|0.007000 0.16637|0.16637 0.210000|0.210000 0.23637|0.23637 0.087000|0.087000 0.18053|0.18053 1.323000|1.323000 0.33701|0.33701 0.291000|0.291000 0.22468|0.22468 -1.051000|-1.051000 0.02340|0.02340 CGT|TCG NOVEL TMEM14B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039836.1 5 5.918324 KEEP 0 3 95 53 1726 CC 1 0.999999 0 + 7 60 215 0 0 13.344421 110 70 3555 261 ENST00000379542.5 0.059829 0.999999 RP11-637O19.3 0 __UNKNOWN__ __UNKNOWN__ 6 10759584 10759584 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:10759584A>G ENST00000480294.1 + 3 232 SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000481240.1_3'UTR|TMEM14B_ENST00000467317.1_3'UTR NA NA NA tgtaatcccaacactttggga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000480294.1:c.100+9653A>G chr6.hg19:g.10759584A>G NA hg19 0.02 1.564747 CCAxCAC COVERED NOVEL RP11-637O19.3-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000470399.1 8 3.228684 KEEP 0 1 35 23 693 AA 0.999909 0.999817 0 + 5 60 159 0 0 10.066724 79 60 2236 150 ENST00000480294.1 0.059524 0.999907 ELOVL2 54898 __UNKNOWN__ __UNKNOWN__ 6 10982527 10982527 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:10982527A>G ENST00000354666.3 - 0 2461 NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) fatty acid elongase activity (GO:0009922) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) TCAGGGGGGAAAAAAAGCCGA 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000341 CCDS4518.1 6p24.1 2011-05-25 2011-05-25 ENSG00000197977 ENSG00000197977 54898 14416 protein-coding gene gene with protein product 611814 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 NA 12371743, 16564093 Standard NM_017770 NA Approved Ssc2 uc003mzp.4 Q9NXB9 OTTHUMG00000014252 ENST00000354666.3:c.*1487T>C chr6.hg19:g.10982527A>G NA Q6P9E1|Q86W94 hg19 CCDS4518.1 0.02 2.023476 GGAxAAA COVERED NOVEL ELOVL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039849.1 1 5.115033 KEEP 0 0 0 17 517 AA 0.999366 0.970205 0 - 6 60 207 0 0 15.597994 44 60 1235 95 ENST00000354666.3 0.12 0.97082 HIVEP1 3096 __UNKNOWN__ __UNKNOWN__ 6 12038646 12038646 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:12038646A>C ENST00000484210.1 + 0 770 HIVEP1_ENST00000379388.2_Intron P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) gtggctcacgattgtaatccc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J05011 CCDS43426.1 6p24-p22.3 2012-10-05 2001-11-28 ENSG00000095951 ENSG00000095951 3096 Zinc fingers, C2H2-type 4920 protein-coding gene gene with protein product 194540 human immunodeficiency virus type I enhancer-binding protein 1, zinc finger protein 40 ZNF40 NA 2037300 Standard NM_002114 XR_241895 NA Approved CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A uc003nac.3 P15822 OTTHUMG00000014265 ENST00000484210.1:c.*584A>C chr6.hg19:g.12038646A>C NA B2RTU3|Q14122|Q5MPB1|Q5VW60 hg19 0.02 1.634488 ACGxTTG COVERED NOVEL HIVEP1-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000353831.1 3 3.545086 KEEP 0 1 38 25 760 AA 0.999957 0.999683 0 + 4 60 134 0 0 8.484615 73 60 2031 141 ENST00000484210.1 0.051948 0.999726 GFOD1 54438 __UNKNOWN__ __UNKNOWN__ 6 13359914 13359914 __UNKNOWN__ 3'UTR SNP A A C rs563873968 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:13359914A>C ENST00000379287.3 - 0 6898 GFOD1_ENST00000379284.1_3'UTR NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 NA NA extracellular region (GO:0005576) oxidoreductase activity (GO:0016491) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) ggcacggtggatcacgcctgt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000337 CCDS4524.1, CCDS56397.1, CCDS64351.1 6p24.1-p23 2013-09-19 ENSG00000145990 ENSG00000145990 54438 21096 protein-coding gene gene with protein product chromosome 6 open reading frame 114 C6orf114 NA Standard NM_018988 NM_018988 NA Approved FLJ20330, ADG-90 uc003nat.2 Q9NXC2 OTTHUMG00000014276 ENST00000379287.3:c.*5061T>G chr6.hg19:g.13359914A>C NA A8E4L6|Q5T058|Q96JD4|Q9H5K2 hg19 CCDS4524.1 0.02 -0.350739 TGGxTCA COVERED NOVEL GFOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039902.1 5 4.512777 KEEP 0 0 0 15 447 AA 0.99649 0.885755 0 - 4 60 139 0 0 10.35695 32 60 906 72 ENST00000379287.3 0.111111 0.888875 MCUR1 63933 __UNKNOWN__ __UNKNOWN__ 6 13790885 13790885 __UNKNOWN__ 3'UTR SNP G G A rs539785031 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:13790885G>A ENST00000379170.4 - 0 1374 NM_001031713.3 NP_001026883.1 Q96AQ8 MCUR1_HUMAN mitochondrial calcium uniporter regulator 1 NA NA calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561) integral component of mitochondrial inner membrane (GO:0031305) NA gggtttcaccgtgttggccag 0.577 NA G||| 3 0.000599042 8e-04 0 5008 , , NA 13747 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC016850 CCDS35495.1 6p23 2013-03-13 2013-03-13 2013-03-13 ENSG00000050393 ENSG00000050393 63933 21097 protein-coding gene gene with protein product chromosome 6 open reading frame 79, coiled-coil domain containing 90A C6orf79, CCDC90A NA 23178883 Standard NM_022102 NM_001031713 NA Approved FLJ20958 uc003nbc.2 Q96AQ8 OTTHUMG00000014279 ENST00000379170.4:c.*156C>T chr6.hg19:g.13790885G>A NA Q96JS7|Q9H7F8 hg19 CCDS35495.1 0.02 1.31697 ACCxTGT COVERED NOVEL MCUR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039909.3 5 2.372315 KEEP 3 2 48 25 769 GG 0.999988 0.998855 0 - 5 52 135 0 0 8.022566 67 60 1967 117 ENST00000379170.4 0.069444 0.998867 MCUR1 63933 __UNKNOWN__ __UNKNOWN__ 6 13790923 13790923 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:13790923A>G ENST00000379170.4 - 0 1336 NM_001031713.3 NP_001026883.1 Q96AQ8 MCUR1_HUMAN mitochondrial calcium uniporter regulator 1 NA NA calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561) integral component of mitochondrial inner membrane (GO:0031305) NA gacctcaggtaatccacctgc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC016850 CCDS35495.1 6p23 2013-03-13 2013-03-13 2013-03-13 ENSG00000050393 ENSG00000050393 63933 21097 protein-coding gene gene with protein product chromosome 6 open reading frame 79, coiled-coil domain containing 90A C6orf79, CCDC90A NA 23178883 Standard NM_022102 NM_001031713 NA Approved FLJ20958 uc003nbc.2 Q96AQ8 OTTHUMG00000014279 ENST00000379170.4:c.*118T>C chr6.hg19:g.13790923A>G NA Q96JS7|Q9H7F8 hg19 CCDS35495.1 0.02 3.581959 GGTxATC COVERED NOVEL MCUR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039909.3 14 3.978555 KEEP 5 2 62 35 1038 AA 1 0.999999 0 - 6 60 187 0 0 11.325632 110 60 2944 211 ENST00000379170.4 0.051724 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 14463856 14463856 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:14463856G>A NA NA RP3-448I9.1 (59336 upstream) : RP11-330A16.1 (133888 downstream) NA NA NA catgcctgtagtcccagctac 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.14463856G>A NA hg19 0.02 -0.228066 GTAxTCC COVERED NOVEL 0 16 3.310851 KEEP 6 0 0 11 392 GG 0.99257 0.578599 0 4 40 111 0 0 8.315293 20 60 684 59 0.166667 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 16100075 16100075 __UNKNOWN__ IGR SNP A A G rs112084352|rs373410220 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:16100075A>G NA NA RP11-401E14.2 (100047 upstream) : MYLIP (29280 downstream) NA NA NA aggaagaggaagaggaggaag 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.16100075A>G NA hg19 0.02 2.079545 GGAxGAG COVERED NOVEL 0 13 2.708366 KEEP 10 0 0 9 288 AA 0.99257 0.976849 0 11 60 355 2 0 28.706169 45 60 1313 115 0.196429 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 16111695 16111695 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:16111695T>C NA NA RP11-401E14.2 (111667 upstream) : MYLIP (17660 downstream) NA NA NA ggattacaggtgtgagccacc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.16111695T>C NA hg19 0.02 -0.289411 AGGxGTG COVERED NOVEL 0 4 2.40749 KEEP 0 0 0 8 259 TT 0.99257 0.755234 0 3 60 94 0 0 6.554563 28 60 826 68 0.096774 0.760887 ATXN1 6310 __UNKNOWN__ __UNKNOWN__ 6 16523399 16523399 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:16523399T>C ENST00000244769.4 - 6 577 ATXN1_ENST00000436367.1_Intron NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 NA NA adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) tcccaaagtgttgggattaca 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X79204 CCDS34342.1 6p23 2014-09-17 2004-08-12 2004-08-13 ENSG00000124788 ENSG00000124788 6310 Ataxins 10548 protein-coding gene gene with protein product 601556 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) SCA1 NA 1582256 Standard NM_000332 NM_000332 NA Approved D6S504E, ATX1 uc010jpi.3 P54253 OTTHUMG00000014303 ENST00000244769.4:c.360-480A>G chr6.hg19:g.16523399T>C NA Q17S02|Q9UJG2|Q9Y4J1 hg19 CCDS34342.1 0.02 -0.289443 GTGxTGG COVERED NOVEL ATXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039943.3 9 3.611313 KEEP 0 0 0 12 392 TT 0.993634 0.756043 0 - 3 60 104 0 0 7.692086 25 60 756 67 ENST00000244769.4 0.107143 0.760887 ATXN1 6310 __UNKNOWN__ __UNKNOWN__ 6 16612369 16612369 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:16612369T>C ENST00000244769.4 - 5 449 ATXN1_ENST00000436367.1_Intron NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 NA NA adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ggattacaggtgtgagccacc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X79204 CCDS34342.1 6p23 2014-09-17 2004-08-12 2004-08-13 ENSG00000124788 ENSG00000124788 6310 Ataxins 10548 protein-coding gene gene with protein product 601556 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) SCA1 NA 1582256 Standard NM_000332 NM_000332 NA Approved D6S504E, ATX1 uc010jpi.3 P54253 OTTHUMG00000014303 ENST00000244769.4:c.488-26231A>G chr6.hg19:g.16612369T>C NA Q17S02|Q9UJG2|Q9Y4J1 hg19 CCDS34342.1 0.02 -0.298169 AGGxGTG COVERED NOVEL ATXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039943.3 12 2.692691 KEEP 3 0 0 9 265 TT 0.99254 0.775233 0 - 4 60 132 0 0 9.818027 29 60 858 67 ENST00000244769.4 0.121212 0.78106 ATXN1 6310 __UNKNOWN__ __UNKNOWN__ 6 16627700 16627700 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:16627700T>C ENST00000244769.4 - 4 449 ATXN1_ENST00000436367.1_Intron NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 NA NA adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) tggctcacacttgtaatccca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X79204 CCDS34342.1 6p23 2014-09-17 2004-08-12 2004-08-13 ENSG00000124788 ENSG00000124788 6310 Ataxins 10548 protein-coding gene gene with protein product 601556 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) SCA1 NA 1582256 Standard NM_000332 NM_000332 NA Approved D6S504E, ATX1 uc010jpi.3 P54253 OTTHUMG00000014303 ENST00000244769.4:c.487+30306A>G chr6.hg19:g.16627700T>C NA Q17S02|Q9UJG2|Q9Y4J1 hg19 CCDS34342.1 0.02 -0.40348 CACxTGT COVERED NOVEL ATXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039943.3 9 2.407431 KEEP 1 0 0 8 259 TT 0.99257 0.927549 0 - 3 60 96 0 0 6.40744 37 60 1130 78 ENST00000244769.4 0.075 0.934492 ATXN1 6310 __UNKNOWN__ __UNKNOWN__ 6 16732539 16732539 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:16732539C>T ENST00000244769.4 - 3 323 ATXN1_ENST00000436367.1_Intron NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 NA NA adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) tggtggctcacgcctgtaatc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X79204 CCDS34342.1 6p23 2014-09-17 2004-08-12 2004-08-13 ENSG00000124788 ENSG00000124788 6310 Ataxins 10548 protein-coding gene gene with protein product 601556 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) SCA1 NA 1582256 Standard NM_000332 NM_000332 NA Approved D6S504E, ATX1 uc010jpi.3 P54253 OTTHUMG00000014303 ENST00000244769.4:c.613+20924G>A chr6.hg19:g.16732539C>T NA Q17S02|Q9UJG2|Q9Y4J1 hg19 CCDS34342.1 0.02 -0.385971 TCAxGCC COVERED NOVEL ATXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039943.3 9 3.850423 KEEP 0 0 0 13 420 CC 0.994391 0.91302 0 - 4 60 115 0 0 7.678323 38 60 1265 84 ENST00000244769.4 0.095238 0.918171 CAP2 10486 __UNKNOWN__ __UNKNOWN__ 6 17514360 17514360 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:17514360T>C ENST00000229922.2 + 7 1168 CAP2_ENST00000489374.1_Intron|CAP2_ENST00000465994.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Intron NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) NA NA activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165) plasma membrane (GO:0005886) breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) tttgggaggctgagctgggca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008481 CCDS4539.1 6p22.3 2008-02-05 ENSG00000112186 ENSG00000112186 10486 20039 protein-coding gene gene with protein product NA 7962207, 8761950 Standard NM_006366 NA Approved uc003ncb.3 P40123 OTTHUMG00000014311 ENST00000229922.2:c.636+175T>C chr6.hg19:g.17514360T>C NA B2R5Y3|B7Z1C4|B7Z214|Q6IAY2 hg19 CCDS4539.1 0.02 -0.411784 GGCxGAG COVERED NOVEL CAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039952.2 5 2.407362 KEEP 1 0 0 8 253 TT 0.99257 0.934744 0 + 3 60 99 0 0 6.708105 37 60 1073 75 ENST00000229922.2 0.075 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 17598164 17598164 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:17598164C>T NA NA CAP2 (40141 upstream) : FAM8A1 (2421 downstream) NA NA NA ctgggcaacacagtgagaccc 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.17598164C>T NA hg19 0.02 -0.377054 ACAxAGT COVERED NOVEL 0 7 3.611741 KEEP 0 0 0 12 432 CC 0.993634 0.903281 0 5 60 139 0 0 9.991197 31 60 1014 74 0.138889 0.909069 NUP153 9972 __UNKNOWN__ __UNKNOWN__ 6 17675329 17675329 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:17675329T>C ENST00000262077.2 - 5 723 NUP153_ENST00000537253.1_Intron NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270) NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) ttgcagtgagttaagatcatg 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z25535 CCDS4541.1, CCDS64359.1, CCDS75407.1 6p22.3 2008-07-29 2002-08-29 ENSG00000124789 ENSG00000124789 9972 8062 protein-coding gene gene with protein product 603948 nucleoporin 153kD NA 8110839 Standard NM_001278209 NA Approved HNUP153 uc003ncd.2 P49790 OTTHUMG00000014312 ENST00000262077.2:c.724-65A>G chr6.hg19:g.17675329T>C NA B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743 hg19 CCDS4541.1 0.02 1.464785 GAGxTAA COVERED NOVEL NUP153-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039953.1 6 14.741318 KEEP 0 0 0 49 1499 TT 1 0.999907 0 - 4 60 133 0 0 8.108231 86 60 2472 157 ENST00000262077.2 0.044444 0.999907 KIF13A 63971 __UNKNOWN__ __UNKNOWN__ 6 17759516 17759516 __UNKNOWN__ 3'UTR SNP T T C rs145428957|rs575460322|rs369635810 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:17759516T>C ENST00000378814.5 - 0 6821 NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A NA NA ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383) centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CTAAAacacatacacacacac 0.274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ291578 CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1 6p23 2008-10-21 ENSG00000137177 ENSG00000137177 63971 Kinesins 14566 protein-coding gene gene with protein product 605433 NA 11106728 Standard NM_022113 NA Approved bA500C11.2 uc003ncg.4 Q9H1H9 OTTHUMG00000014313 ENST00000378814.5:c.*1572A>G chr6.hg19:g.17759516T>C NA A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8 hg19 CCDS47380.1 0.02 5.567776 ACAxACA COVERED NOVEL KIF13A-005 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000367778.1 28 14.751811 KEEP 0 1 37 62 1867 TT 1 1 0 - 11 60 369 1 0 24.701854 151 60 4186 341 ENST00000378814.5 0.067901 1 KIF13A 63971 __UNKNOWN__ __UNKNOWN__ 6 17936610 17936610 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:17936610T>C ENST00000259711.6 - 3 252 KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378816.5_Silent_p.P51P NM_022113.5 NP_071396.4 Q9H1H9 KI13A_HUMAN kinesin family member 13A NA NA ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383) centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) ctgcccaccttggcctcccaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ291578 CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1 6p23 2008-10-21 ENSG00000137177 ENSG00000137177 63971 Kinesins 14566 protein-coding gene gene with protein product 605433 NA 11106728 Standard NM_022113 NA Approved bA500C11.2 uc003ncg.4 Q9H1H9 OTTHUMG00000014313 ENST00000259711.6:c.147-38199A>G chr6.hg19:g.17936610T>C NA A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8 hg19 CCDS47381.1 0.02 1.523329 CCTxGGC COVERED NOVEL KIF13A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039954.4 8 13.871274 KEEP 0 1 34 58 1684 TT 1 0.998696 0 - 5 60 143 0 0 8.945458 63 60 1673 149 ENST00000259711.6 0.073529 0.998696 KIF13A 63971 __UNKNOWN__ __UNKNOWN__ 6 17951632 17951632 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:17951632A>G ENST00000259711.6 - 2 252 KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000502704.1_Missense_Mutation_p.S59P|KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378816.5_Intron NM_022113.5 NP_071396.4 Q9H1H9 KI13A_HUMAN kinesin family member 13A NA NA ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383) centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) aaagtgctggaattagagatg 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ291578 CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1 6p23 2008-10-21 ENSG00000137177 ENSG00000137177 63971 Kinesins 14566 protein-coding gene gene with protein product 605433 NA 11106728 Standard NM_022113 NA Approved bA500C11.2 uc003ncg.4 Q9H1H9 OTTHUMG00000014313 ENST00000259711.6:c.146+35652T>C chr6.hg19:g.17951632A>G NA A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8 hg19 CCDS47381.1 0.02 3.417409 TGGxATT COVERED . . . . . . . . . . A 6.590 0.477244 0.12521 . . ENSG00000137177 ENST00000502704 D 0.87650 -2.28 0.235 -0.47 0.12131 . . . . . T 0.72366 0.3451 . . . 0.09310 N 0.999993 . . . . . . T 0.67197 -0.5731 5 0.87932 D 0 . . . . . . . . P 59 ENSP00000425453:S59P ENSP00000425453:S59P S - 1 0 KIF13A 18059611 0.021000 0.18746 0.194000 0.23346 0.199000 0.23934 -0.690000 0.05138 -0.750000 0.04740 -0.755000 0.03482 TCC NOVEL KIF13A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039954.4 8 12.939285 KEEP 0 0 0 43 1361 AA 1 0.999999 0 - 6 60 183 0 0 11.016463 106 70 3146 231 ENST00000259711.6 0.053571 0.999999 KIF13A 63971 __UNKNOWN__ __UNKNOWN__ 6 17952670 17952670 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:17952670G>C ENST00000259711.6 - 2 252 KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000502704.1_Intron|KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378816.5_Intron NM_022113.5 NP_071396.4 Q9H1H9 KI13A_HUMAN kinesin family member 13A NA NA ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383) centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) ttgagaccaggctgggcaaca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ291578 CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1 6p23 2008-10-21 ENSG00000137177 ENSG00000137177 63971 Kinesins 14566 protein-coding gene gene with protein product 605433 NA 11106728 Standard NM_022113 NA Approved bA500C11.2 uc003ncg.4 Q9H1H9 OTTHUMG00000014313 ENST00000259711.6:c.146+34614C>G chr6.hg19:g.17952670G>C NA A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8 hg19 CCDS47381.1 0.02 -0.3236 CAGxCTG COVERED NOVEL KIF13A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039954.4 7 3.009944 KEEP 0 0 0 10 362 GG 0.992708 0.829622 0 - 3 60 108 0 0 7.7907 32 60 1064 66 ENST00000259711.6 0.085714 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 18095702 18095702 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:18095702A>T NA NA KIF13A (107848 upstream) : NHLRC1 (25015 downstream) NA NA NA cccaggagttagagaccagcc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.18095702A>T NA hg19 0.02 1.450061 GTTxGAG COVERED NOVEL 0 17 3.911943 KEEP 3 0 0 13 410 AA 0.994391 0.993264 0 5 60 154 1 0 10.035596 63 60 1839 142 0.073529 0.998867 TPMT 7172 __UNKNOWN__ __UNKNOWN__ 6 18129214 18129214 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:18129214T>C ENST00000309983.4 - 0 2508 NM_000367.2 NP_000358.1 P51580 TPMT_HUMAN thiopurine S-methyltransferase NA NA methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) thiopurine S-methyltransferase activity (GO:0008119) large_intestine(2)|lung(1) 3 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.146) all cancers(50;0.06)|Epithelial(50;0.0654) Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021) cctgtaatcctagcactttgg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(190;1381 2791 16728 32493) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4543.1 6p22.3 2014-09-17 ENSG00000137364 ENSG00000137364 7172 2.1.1.67 12014 protein-coding gene gene with protein product 187680 NA 8316220 Standard NM_000367 NA Approved uc003ncm.3 P51580 OTTHUMG00000014317 ENST00000309983.4:c.*1685A>G chr6.hg19:g.18129214T>C NA O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62 hg19 CCDS4543.1 0.02 3.651653 TCCxAGC COVERED NOVEL TPMT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039960.1 15 6.619433 KEEP 0 0 0 22 678 TT 0.999879 0.999876 0 - 7 60 219 0 0 13.910891 104 60 2952 181 ENST00000309983.4 0.063063 0.999998 KDM1B 221656 __UNKNOWN__ __UNKNOWN__ 6 18215034 18215034 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:18215034T>G ENST00000297792.5 + 16 1590 KDM1B_ENST00000388870.2_Intron|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B NA NA DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270) breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 ccagctactctggaggctgag 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125318 CCDS34343.1 6p22.3 2011-07-01 2009-09-29 2009-09-29 ENSG00000165097 ENSG00000165097 221656 Chromatin-modifying enzymes / K-demethylases 21577 protein-coding gene gene with protein product 613081 amine oxidase, flavin containing 1, chromosome 6 open reading frame 193, amine oxidase (flavin containing) domain 1 C6orf193, AOF1 NA 19407342, 19727073 Standard NM_153042 NM_153042 NA Approved FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2 uc003ncn.1 Q8NB78 OTTHUMG00000014316 ENST00000297792.5:c.1414-204T>G chr6.hg19:g.18215034T>G NA A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7 hg19 CCDS34343.1 0.02 -0.271863 CTCxGGA COVERED NOVEL KDM1B-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000277080.1 3 2.405779 KEEP 0 0 0 8 223 TT 0.99257 0.711986 0 + 3 47 95 0 0 6.74531 26 60 753 45 ENST00000297792.5 0.103448 0.717315 KDM1B 221656 __UNKNOWN__ __UNKNOWN__ 6 18215130 18215130 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:18215130A>G ENST00000297792.5 + 16 1590 KDM1B_ENST00000388870.2_Intron|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B NA NA DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270) breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 gacagagcaaaactctgtctc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125318 CCDS34343.1 6p22.3 2011-07-01 2009-09-29 2009-09-29 ENSG00000165097 ENSG00000165097 221656 Chromatin-modifying enzymes / K-demethylases 21577 protein-coding gene gene with protein product 613081 amine oxidase, flavin containing 1, chromosome 6 open reading frame 193, amine oxidase (flavin containing) domain 1 C6orf193, AOF1 NA 19407342, 19727073 Standard NM_153042 NM_153042 NA Approved FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2 uc003ncn.1 Q8NB78 OTTHUMG00000014316 ENST00000297792.5:c.1414-108A>G chr6.hg19:g.18215130A>G NA A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7 hg19 CCDS34343.1 0.02 5.525991 CAAxACT COVERED NOVEL KDM1B-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000277080.1 19 11.266991 KEEP 0 1 36 50 1578 AA 1 1 0 + 9 60 301 2 1 19.211126 157 60 4613 332 ENST00000297792.5 0.054217 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 18544694 18544694 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:18544694T>C NA NA RNF144B (75589 upstream) : MIR548A1 (27320 downstream) NA NA NA tggctcacgctggtaatccca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.18544694T>C NA hg19 0.02 -0.254363 CGCxGGT COVERED NOVEL 0 8 2.407527 KEEP 0 0 0 8 258 TT 0.99257 0.663556 0 3 60 103 0 0 7.926738 19 60 579 54 0.136364 0.668523 RP1-167F1.2 0 __UNKNOWN__ __UNKNOWN__ 6 19708934 19708934 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:19708934A>G ENST00000432171.2 - 0 263 NA NA NA ggtggctcacacctgtaatcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000432171.2: chr6.hg19:g.19708934A>G NA hg19 0.02 -0.236811 CACxCCT COVERED NOVEL RP1-167F1.2-001 KNOWN basic antisense NA antisense OTTHUMT00000039973.2 8 3.30996 KEEP 2 0 0 11 343 AA 0.993072 0.608164 0 - 3 60 106 0 0 8.048613 22 60 658 57 ENST00000432171.2 0.12 0.612407 RP1-167F1.2 0 __UNKNOWN__ __UNKNOWN__ 6 19725055 19725055 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:19725055C>T ENST00000432171.2 - 0 263 NA NA NA ccatgttagccaggatggtct 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000432171.2: chr6.hg19:g.19725055C>T NA hg19 0.02 -0.15789 AGCxAGG UNCOVERED NOVEL RP1-167F1.2-001 KNOWN basic antisense NA antisense OTTHUMT00000039973.2 7 2.407807 KEEP 4 0 0 8 277 CC 0 0 0 - 3 28 88 0 0 6.792076 14 60 457 35 ENST00000432171.2 0.176471 0.322807 MBOAT1 154141 __UNKNOWN__ __UNKNOWN__ 6 20109936 20109936 __UNKNOWN__ Silent SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:20109936G>C ENST00000324607.7 - 12 1418 c.1254C>G c.(1252-1254)ctC>ctG p.L418L MBOAT1_ENST00000541730.1_Silent_p.L269L NM_001080480.1 NP_001073949.1 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 418 NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747) breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) ACACAGCCTTGAGAGCTCTTG 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 151 131 138 NA NA NA 6 NA NA 20109936 2203 4300 6503 SO:0001819 synonymous_variant AK093994 CCDS34346.1 6p22.3 2013-10-11 2006-06-29 2006-06-29 ENSG00000172197 ENSG00000172197 154141 21579 protein-coding gene gene with protein product lysophosphatidylethanolamine acyltransferase 1 611732 O-acyltransferase (membrane bound) domain containing 1 OACT1 NA 18287005 Standard NM_001080480 NA Approved MGC44669, dJ434O11.1, LPEAT1 uc003ncx.2 Q6ZNC8 OTTHUMG00000014334 ENST00000324607.7:c.1254C>G chr6.hg19:g.20109936G>C NA A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5 hg19 CCDS34346.1 0.02 3.56687 CTTxAGA COVERED NOVEL MBOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039980.1 1 22.271955 KEEP 0 0 0 74 2557 GG 1 1 0 - 38 60 1279 0 0 110.765842 100 60 3320 293 ENST00000324607.7 0.275362 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 21627570 21627570 __UNKNOWN__ IGR SNP A A G rs2328603 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:21627570A>G NA NA SOX4 (28723 upstream) : RN7SKP240 (458202 downstream) NA NA NA aggccgaggcaggcggatcac 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.21627570A>G NA hg19 0.02 -0.298022 GGCxGGC UNCOVERED NOVEL 0 7 3.008998 KEEP 9 0 0 10 312 AA 0 0 0 3 60 98 0 0 6.910535 29 60 855 75 0.09375 0.78106 NRSN1 140767 __UNKNOWN__ __UNKNOWN__ 6 24147584 24147584 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:24147584T>C ENST00000378491.4 + 0 2299 NM_080723.4 NP_542454.3 neurensin 1 NA NA breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 GCCCCCCCCCTTTTTTTTTTC 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF418980 CCDS4549.1 6p22.1 2008-02-05 2006-07-04 2006-07-04 ENSG00000152954 ENSG00000152954 140767 17881 protein-coding gene gene with protein product vesicular membrane protein p24 VMP NA 12463420 Standard NM_080723 NM_080723 NA Approved p24 uc010jpq.1 Q8IZ57 OTTHUMG00000016406 ENST00000378491.4:c.*1410T>C chr6.hg19:g.24147584T>C NA hg19 CCDS4549.1 0.02 1.71909 CCCxTTT COVERED NOVEL NRSN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043866.1 4 3.399852 KEEP 0 3 75 38 1177 TT 1 0.999768 0 + 4 60 139 0 1 9.010648 72 60 2076 191 ENST00000378491.4 0.052632 0.999768 DCDC2 51473 __UNKNOWN__ __UNKNOWN__ 6 24278322 24278322 __UNKNOWN__ Missense_Mutation SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:24278322G>T ENST00000378454.3 - 7 1178 c.877C>A c.(877-879)Caa>Aaa p.Q293K NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 293 NA cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542) breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TTTACATTTTGTTTCAATTTC 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 139 135 136 NA NA NA 6 NA NA 24278322 2203 4300 6503 SO:0001583 missense AB032980 CCDS4550.1 6p22.1 2008-02-05 ENSG00000146038 ENSG00000146038 51473 18141 protein-coding gene gene with protein product 605755 NA 10601354, 10574461 Standard NM_016356 NM_001195610 NA Approved RU2, KIAA1154, DCDC2A uc003ndx.3 Q9UHG0 OTTHUMG00000016275 ENST00000378454.3:c.877C>A chr6.hg19:g.24278322G>T ENSP00000367715:p.Gln293Lys NA Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6 hg19 CCDS4550.1 0.02 -0.421049 TTTxTTT COVERED . . . . . . . . . . G 12.64 1.999296 0.35226 . . ENSG00000146038 ENST00000378454 T 0.02446 4.29 4.75 4.75 0.60458 . 0.266800 0.38436 N 0.001694 T 0.01730 0.0055 L 0.52364 1.645 0.80722 D 1 P 0.47409 0.895 P 0.44518 0.452 T 0.48875 -0.8996 10 0.06099 T 0.92 -0.5499 15.6322 0.76920 0.0:0.0:1.0:0.0 . 293 Q9UHG0 DCDC2_HUMAN K 293 ENSP00000367715:Q293K ENSP00000367715:Q293K Q - 1 0 DCDC2 24386301 1.000000 0.71417 0.900000 0.35374 0.465000 0.32709 3.383000 0.52471 2.622000 0.88805 0.655000 0.94253 CAA NOVEL DCDC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043604.1 0 5.417695 KEEP 0 0 0 18 638 GG 0.999859 0.954357 0 - 4 60 107 2 0 6.642252 44 60 1480 85 ENST00000378454.3 0.083333 0.954491 FAM65B 9750 __UNKNOWN__ __UNKNOWN__ 6 24804860 24804860 __UNKNOWN__ 3'UTR SNP G G T rs1803005 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:24804860G>T ENST00000259698.4 - 0 5123 NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B NA NA cell differentiation (GO:0030154)|muscle organ development (GO:0007517) cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 ATATGTACACGATAAGTTCAC 0.313 NA T||| 1435 0.286542 0.0726 0.3228 5008 , , NA 14144 0.5288 NA 0.2207 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U49187 CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1 6p22.3-p21.32 2012-11-30 2008-06-13 2008-06-13 ENSG00000111913 ENSG00000111913 9750 13872 protein-coding gene gene with protein product myogenesis-related and NCAM-associated protein homolog (chicken) 611410 chromosome 6 open reading frame 32 C6orf32 NA 9205841, 17150207, 17825087 Standard NM_001286447 NA Approved KIAA0386, DIFF48, MYONAP uc003neo.1 Q9Y4F9 OTTHUMG00000014375 ENST00000259698.4:c.*1741C>A chr6.hg19:g.24804860G>T NA A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28 hg19 CCDS47383.1 0.02 -0.184178 CACxATA COVERED NOVEL FAM65B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040024.2 0 2.70874 KEEP 0 0 0 9 308 GG 0.99254 0.420319 0 - 5 60 140 0 0 11.501952 15 60 470 44 ENST00000259698.4 0.25 0.423478 FAM65B 9750 __UNKNOWN__ __UNKNOWN__ 6 24871015 24871015 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:24871015G>T ENST00000259698.4 - 5 536 FAM65B_ENST00000378023.4_Intron|FAM65B_ENST00000540914.1_Intron|FAM65B_ENST00000538035.1_Intron|FAM65B_ENST00000510784.2_Intron NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B NA NA cell differentiation (GO:0030154)|muscle organ development (GO:0007517) cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 gtgctgggatgacaggcgtga 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 90 71 77 NA NA NA 6 NA NA 24871015 692 1591 2283 SO:0001627 intron_variant U49187 CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1 6p22.3-p21.32 2012-11-30 2008-06-13 2008-06-13 ENSG00000111913 ENSG00000111913 9750 13872 protein-coding gene gene with protein product myogenesis-related and NCAM-associated protein homolog (chicken) 611410 chromosome 6 open reading frame 32 C6orf32 NA 9205841, 17150207, 17825087 Standard NM_001286447 NA Approved KIAA0386, DIFF48, MYONAP uc003neo.1 Q9Y4F9 OTTHUMG00000014375 ENST00000259698.4:c.360+78C>A chr6.hg19:g.24871015G>T NA A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28 hg19 CCDS47383.1 0.02 2.003161 GATxACA COVERED NOVEL FAM65B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040024.2 27 27.092353 KEEP 1 4 122 133 4731 GG 1 1 0 - 13 60 352 0 0 23.07344 117 60 3981 378 ENST00000259698.4 0.1 1 FAM65B 9750 __UNKNOWN__ __UNKNOWN__ 6 24871021 24871021 __UNKNOWN__ Intron SNP C C T rs2817748 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:24871021C>T ENST00000259698.4 - 5 536 FAM65B_ENST00000378023.4_Intron|FAM65B_ENST00000540914.1_Intron|FAM65B_ENST00000538035.1_Intron|FAM65B_ENST00000510784.2_Intron NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B NA NA cell differentiation (GO:0030154)|muscle organ development (GO:0007517) cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 ggatgacaggcgtgagccacc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 99 79 85 NA NA NA 6 NA NA 24871021 692 1591 2283 SO:0001627 intron_variant U49187 CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1 6p22.3-p21.32 2012-11-30 2008-06-13 2008-06-13 ENSG00000111913 ENSG00000111913 9750 13872 protein-coding gene gene with protein product myogenesis-related and NCAM-associated protein homolog (chicken) 611410 chromosome 6 open reading frame 32 C6orf32 NA 9205841, 17150207, 17825087 Standard NM_001286447 NA Approved KIAA0386, DIFF48, MYONAP uc003neo.1 Q9Y4F9 OTTHUMG00000014375 ENST00000259698.4:c.360+72G>A chr6.hg19:g.24871021C>T NA A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28 hg19 CCDS47383.1 0.02 4.228834 AGGxGTG COVERED NOVEL FAM65B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040024.2 32 29.131363 KEEP 1 4 114 137 4829 CC 1 1 0 - 7 60 195 0 0 10.810404 134 60 4458 399 ENST00000259698.4 0.049645 1 CMAHP 8418 __UNKNOWN__ __UNKNOWN__ 6 25092061 25092061 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:25092061G>A ENST00000377989.4 - 0 1962 Q9Y471 CMAH_HUMAN cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene NA NA CMP-N-acetylneuraminate metabolic process (GO:0046381) cytoplasm (GO:0005737) 2 iron, 2 sulfur cluster binding (GO:0051537)|oxidoreductase activity (GO:0016491) NS(1) 1 ggaaggaagggaggaaggaag 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 6p23-p22 2011-04-28 2011-04-28 2011-04-28 ENSG00000168405 ENSG00000168405 8418 2098 pseudogene pseudogene 603209 cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene) CMAH NA 7608218, 9624188 Standard NR_002174 NR_002174 NA Approved uc003ner.4 Q9Y471 OTTHUMG00000016099 ENST00000377989.4: chr6.hg19:g.25092061G>A NA O95250|Q5TD41|Q5TD42|Q5TD43|Q5TD44|Q68DC3|Q9UEE7 hg19 0.02 1.573434 AGGxAGG COVERED NOVEL CMAHP-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000043292.2 5 9.960107 KEEP 0 2 65 56 1827 GG 1 0.987943 0 - 4 60 126 0 1 8.290178 51 60 1635 160 ENST00000377989.4 0.072727 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 26050350 26050350 __UNKNOWN__ IGR SNP A A G rs190290582 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:26050350A>G NA NA HIST1H3C (4253 upstream) : HIST1H1C (5617 downstream) NA NA NA agtggctcacacctgtaatcc 0.448 NA A||| 8 0.00159744 0 0.0014 5008 , , NA 16492 0 NA 0.007 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.26050350A>G NA hg19 0.02 -0.245574 CACxCCT COVERED NOVEL 0 5 2.708098 KEEP 1 0 0 9 279 AA 0.992708 0.63667 0 3 40 103 0 0 7.64257 24 60 712 57 0.111111 0.641347 HFE 3077 __UNKNOWN__ __UNKNOWN__ 6 26096631 26096631 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:26096631A>G ENST00000357618.5 + 0 3346 NM_000410.3|NM_139006.2 NP_000401.1|NP_620575.1 Q30201 HFE_HUMAN hemochromatosis NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461) apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) peptide antigen binding (GO:0042605)|receptor binding (GO:0005102) endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 caaagtgctgagattacaggt 0.483 NA Hemochromatosis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1 6p21.3 2014-09-17 ENSG00000010704 ENSG00000010704 3077 Immunoglobulin superfamily / C1-set domain containing 4886 protein-coding gene gene with protein product high Fe 613609 NA 3460331 Standard XR_241893 NA Approved HLA-H uc003nfx.1 Q30201 OTTHUMG00000016348 ENST00000357618.5:c.*2177A>G chr6.hg19:g.26096631A>G NA B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83 hg19 CCDS4578.1 0.02 4.003496 CTGxGAT COVERED NOVEL HFE-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000356133.1 19 18.99229 KEEP 1 1 31 74 2407 AA 1 0.999995 0 + 6 60 198 0 0 12.76778 96 60 2862 261 ENST00000357618.5 0.058824 0.999995 BTN3A1 11119 __UNKNOWN__ __UNKNOWN__ 6 26414989 26414989 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:26414989C>A ENST00000289361.6 + 0 2979 NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 NA NA activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 atctcagctccctgcaacctc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U90552 CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1 6p22.1 2014-01-14 ENSG00000026950 ENSG00000026950 11119 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1138 protein-coding gene gene with protein product 613593 NA 9149941 Standard NM_007048 NA Approved BT3.1, BTF5, CD277, BTN3.1 uc003nhv.3 O00481 OTTHUMG00000014449 ENST00000289361.6:c.*1069C>A chr6.hg19:g.26414989C>A NA A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1 hg19 CCDS4608.1 0.02 1.25428 CTCxCTG COVERED NOVEL BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040112.3 7 3.913242 KEEP 2 6 164 71 2422 CC 1 0.999678 0 + 5 60 137 0 0 8.096775 71 70 2331 189 ENST00000289361.6 0.065789 0.999678 GUSBP2 387036 __UNKNOWN__ __UNKNOWN__ 6 26871431 26871431 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:26871431C>T ENST00000463434.1 - 0 94 glucuronidase, beta pseudogene 2 NA NA NA ggattacaggcgtgagccacc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 6p21 2011-06-09 2011-06-09 2011-06-09 ENSG00000241549 ENSG00000241549 387036 18792 pseudogene pseudogene spinal muscular atrophy candidate gene 3-like 2, glucuronidase, beta-like 1 SMAC3L2, GUSBL1 NA Standard NR_003504 NA Approved bA239L20.5, bA239L20.1, SMA3-L, bGLU-Lp, SMAC3L uc003nim.2 OTTHUMG00000014462 ENST00000463434.1: chr6.hg19:g.26871431C>T NA hg19 0.02 -0.324565 AGGxGTG COVERED NOVEL GUSBP2-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000314060.1 11 3.912762 KEEP 8 0 0 13 464 CC 0.992708 0.845771 0 - 3 48 93 0 0 6.453429 28 60 924 89 ENST00000463434.1 0.096774 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 27200733 27200733 __UNKNOWN__ IGR SNP C C T rs142393584 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:27200733C>T NA NA MIR3143 (85266 upstream) : PRSS16 (14746 downstream) NA NA NA cggtggctcacgcctgtaatc 0.527 NA -||| 275 0.0549121 0.0499 0.0476 5008 , , NA 9022 0.0516 NA 0.1054 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.27200733C>T NA hg19 0.02 -0.298232 TCAxGCC UNCOVERED NOVEL 0 14 3.310449 KEEP 23 0 0 11 367 CC 0 0 0 6 60 175 0 0 13.844705 24 60 796 92 0.2 0.78106 OR2B2 81697 __UNKNOWN__ __UNKNOWN__ 6 27880023 27880023 __UNKNOWN__ Silent SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:27880023A>G ENST00000303324.2 - 1 151 c.75T>C c.(73-75)atT>atC p.I25I NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 25 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 CAAAGGGTGGAATCTCTAGCC 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 83 85 84 NA NA NA 6 NA NA 27880023 2203 4300 6503 SO:0001819 synonymous_variant Z98744 CCDS4641.1 6p22.3-p21.3 2014-02-19 2002-02-28 ENSG00000168131 ENSG00000168131 81697 GPCR / Class A : Olfactory receptors 13966 protein-coding gene gene with protein product olfactory receptor, family 2, subfamily B, member 9 OR2B9 NA Standard NM_033057 NA Approved hs6M1-10, OR6-1, OR2B2Q uc011dkw.2 Q9GZK3 OTTHUMG00000014495 ENST00000303324.2:c.75T>C chr6.hg19:g.27880023A>G NA B2RNH2|Q9GZL2|Q9Y299 hg19 CCDS4641.1 0.02 1.397404 TGGxATC COVERED NOVEL OR2B2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040163.1 5 16.8488 KEEP 0 0 0 56 1758 AA 1 0.99911 0 - 4 60 129 0 0 7.985539 73 60 2180 187 ENST00000303324.2 0.051948 0.99911 ZSCAN16-AS1 100129195 __UNKNOWN__ __UNKNOWN__ 6 28090963 28090963 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:28090963T>C ENST00000600652.1 - 0 772 ZSCAN16-AS1_ENST00000602810.1_RNA NR_103455.1 ZSCAN16 antisense RNA 1 NA NA NA tgcactccagtctgggtgaca 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 6p22.1 2013-07-24 ENSG00000269293 ENSG00000269293 100129195 Long non-coding RNAs 48982 non-coding RNA RNA, long non-coding NA Standard NR_103455 NA Approved OTTHUMG00000184041 ENST00000600652.1: chr6.hg19:g.28090963T>C NA hg19 0.02 -0.254331 CAGxCTG COVERED NOVEL ZSCAN16-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000467844.1 8 2.706714 KEEP 0 0 0 9 270 TT 0.99254 0.688494 0 - 3 60 102 2 0 7.492349 25 60 749 53 ENST00000600652.1 0.107143 0.693668 TRIM27 5987 __UNKNOWN__ __UNKNOWN__ 6 28876914 28876914 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:28876914T>C ENST00000377199.3 - 5 1127 TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 NA NA Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 gagatggagtttcgcttgttg 0.473 NA T RET papillary thyroid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 6 6p22 5987 tripartite motif-containing 27 E 0 15 16 16 NA NA NA 6 NA NA 28876914 2080 4236 6316 SO:0001627 intron_variant Z58939 CCDS4654.1 6p22 2013-01-09 2011-01-25 2006-09-26 ENSG00000204713 ENSG00000204713 5987 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 9975 protein-coding gene gene with protein product 602165 ret finger protein, tripartite motif-containing 27 RFP NA 8114113 Standard NM_030950 NM_006510 NA Approved RNF76 uc003nlr.3 P14373 OTTHUMG00000031215 ENST00000377199.3:c.771-49A>G chr6.hg19:g.28876914T>C NA A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3 hg19 CCDS4654.1 0.02 -0.412189 AGTxTCG COVERED NOVEL TRIM27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076442.2 4 9.328164 KEEP 1 0 0 31 989 TT 0.999997 0.941739 0 - 5 60 171 2 2 12.942654 35 60 1008 100 ENST00000377199.3 0.125 0.941741 OR5V1 81696 __UNKNOWN__ __UNKNOWN__ 6 29385237 29385237 __UNKNOWN__ Intron SNP T T C rs3131024 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:29385237T>C ENST00000377154.1 - 3 218 OR12D1_ENST00000514827.1_RNA Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTATTTCTTCTTGGGAAACCT 0.458 NA C||| 4184 0.835463 0.8472 0.768 5008 , , NA 19593 0.7688 NA 0.8678 False NA ,,, NA NA NA 2504 0.9029 NA NA NA Ovarian(32;43 883 21137 32120 42650) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4657.1 6p22.1 2013-09-23 ENSG00000243729 81696 GPCR / Class A : Olfactory receptors 13972 protein-coding gene gene with protein product NA Standard NM_030876 NA Approved hs6M1-21 uc011dlo.2 Q9UGF6 ENST00000377154.1:c.81+5146A>G chr6.hg19:g.29385237T>C NA A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3 hg19 CCDS4657.1 0.02 1.809785 TTCxTGG COVERED NOVEL OR5V1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076398.3 2 14.744399 KEEP 0 0 0 49 1547 TT 1 0.994422 0 - 4 60 141 0 0 9.485482 61 60 1789 163 ENST00000377154.1 0.061538 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29769280 29769280 __UNKNOWN__ IGR SNP C C A rs1610653 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:29769280C>A NA NA HLA-V (3692 upstream) : HLA-G (25463 downstream) NA NA NA ATGTGCAGCACGAGGGGTTGC 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29769280C>A NA hg19 0.02 -0.157743 GCAxGAG COVERED NOVEL 0 0 5.416864 KEEP 0 0 0 18 616 CC 0.99986 0.322761 0 7 60 197 0 0 17.804772 11 60 371 42 0.388889 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29856463 29856463 __UNKNOWN__ IGR SNP T T G rs202130552 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:29856463T>G NA NA HLA-G (57561 upstream) : HLA-A (52573 downstream) NA NA NA GAGGGCGAGTTCGTGGAGTGG 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29856463T>G NA hg19 0.02 6.105939 AGTxCGT COVERED NOVEL 0 6 7.671844 KEEP 1 5 164 83 2396 TT 1 1 0 15 60 525 0 0 38.310025 139 60 3786 287 0.097403 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29856862 29856862 __UNKNOWN__ IGR SNP T T A rs201800409 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:29856862T>A NA NA HLA-G (57960 upstream) : HLA-A (52174 downstream) NA NA NA TGAGTCCAGCTCTTCTGAGTC 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29856862T>A NA hg19 0.02 1.62544 AGCxCTT COVERED NOVEL 0 2 4.981864 KEEP 0 2 61 38 1191 TT 1 0.97082 0 5 60 158 0 0 11.041157 47 60 1395 135 0.096154 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29856874 29856874 __UNKNOWN__ IGR SNP C C T rs374742814 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:29856874C>T NA NA HLA-G (57972 upstream) : HLA-A (52162 downstream) NA NA NA TTCTGAGTCCCTCAGCCTCCA 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29856874C>T NA hg19 0.02 1.321992 TCCxTCA COVERED NOVEL 0 3 5.187714 KEEP 0 2 65 40 1445 CC 1 0.993703 0 10 60 294 0 0 22.356419 51 60 1790 156 0.163934 0.993703 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29974547 29974547 __UNKNOWN__ RNA SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:29974547G>T ENST00000376797.3 - 0 1346 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA GAGGAGGGTCGGGCGGGTCTC 0.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29974547G>T NA hg19 0.02 2.78454 GTCxGGC COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 3 12.630339 KEEP 1 0 0 42 1352 GG 1 0.999996 0 - 6 60 179 0 0 10.918448 94 60 3030 235 ENST00000376797.3 0.06 0.999996 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29974568 29974568 __UNKNOWN__ RNA SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:29974568C>G ENST00000376797.3 - 0 1346 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA AGCCCCTCCTCGCCCCCAGGC 0.711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29974568C>G NA hg19 0.02 3.730492 CCTxGCC COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 3 10.833871 KEEP 1 0 0 36 1207 CC 0.999999 0.999989 0 - 7 60 230 0 0 15.460628 89 60 2836 225 ENST00000376797.3 0.072917 0.999991 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29977342 29977342 __UNKNOWN__ RNA SNP A A T rs113017032 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA TGGGACTGAGAGGCAAGATTT 0.438 NA A||| 16 0.00319489 0.003 0.0029 5008 , , NA 21762 0 NA 0.003 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29977342A>T NA hg19 0.02 3.066586 GAGxGGC COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 20 10.879627 KEEP 0 7 195 105 3438 AA 1 1 0 - 15 60 433 0 0 31.253936 98 60 3026 342 ENST00000376797.3 0.132743 1 ATAT1 79969 __UNKNOWN__ __UNKNOWN__ 6 30614469 30614469 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:30614469G>A ENST00000376485.4 + 0 1345 ATAT1_ENST00000330083.5_3'UTR|ATAT1_ENST00000376478.2_3'UTR|ATAT1_ENST00000468713.1_3'UTR alpha tubulin acetyltransferase 1 NA NA cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 9 CCTCACTACAGGAAAGAGCCA 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 5 6 6 NA NA NA 6 NA NA 30614469 1255 2452 3707 SO:0001624 3_prime_UTR_variant AK023220 CCDS4683.2, CCDS54978.1, CCDS59002.1 6p21.32 2014-06-17 2010-10-11 2010-10-11 ENSG00000137343 ENSG00000137343 79969 2.3.1.108 21186 protein-coding gene gene with protein product alpha-tubulin N-acetyltransferase 615556 chromosome 6 open reading frame 134 C6orf134 NA 20829795 Standard NM_024909 NM_024909 NA Approved FLJ13158, Em:AB023049.7, MEC17 uc003nqv.3 Q5SQI0 OTTHUMG00000031219 ENST00000376485.4:c.*49G>A chr6.hg19:g.30614469G>A NA hg19 0.02 3.376368 ACAxGAA COVERED NOVEL ATAT1-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000076449.2 1 24.980955 KEEP 0 0 0 83 2934 GG 1 0.999978 0 + 40 60 1193 0 0 108.496029 63 60 2090 237 ENST00000376485.4 0.38835 0.999978 C6orf136 221545 __UNKNOWN__ __UNKNOWN__ 6 30619330 30619330 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:30619330A>C ENST00000376473.5 + 4 923 C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000528347.2_Intron|C6orf136_ENST00000293604.6_Intron NM_001109938.2 NP_001103408.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 NA NA mitochondrion (GO:0005739) endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 gtcacccaggatggagtgcag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016167 CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1 6p21.32 2012-02-06 ENSG00000204564 ENSG00000204564 221545 21301 protein-coding gene gene with protein product NA Standard NM_145029 NM_001109938 NA Approved Em:AB023049.8 uc003nqx.4 Q5SQH8 OTTHUMG00000031221 ENST00000376473.5:c.764+87A>C chr6.hg19:g.30619330A>C NA A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84 hg19 CCDS43443.1 0.02 -0.227528 AGGxTGG COVERED NOVEL C6orf136-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076457.4 3 3.608931 KEEP 0 0 0 12 338 AA 0.993634 0.579219 0 + 3 60 95 0 0 7.193436 18 60 511 41 ENST00000376473.5 0.142857 0.58293 FLOT1 10211 __UNKNOWN__ __UNKNOWN__ 6 30708689 30708689 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:30708689A>G ENST00000376389.3 - 6 575 FLOT1_ENST00000470643.1_Intron|FLOT1_ENST00000456573.2_Intron NM_005803.2 NP_005794.1 P41440 S19A1_HUMAN flotillin 1 NA NA folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 13 Methotrexate(DB00563)|Pralatrexate(DB06813) tcagcctcccaagtagctggg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF089750 CCDS4688.1 6p21.3 2010-02-17 ENSG00000137312 ENSG00000137312 10211 3757 protein-coding gene gene with protein product 606998 NA Standard XM_005248780 NA Approved uc003nrm.3 O75955 OTTHUMG00000031151 ENST00000376389.3:c.355-114T>C chr6.hg19:g.30708689A>G NA B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8 hg19 CCDS4688.1 0.02 -0.184054 CCCxAGT COVERED NOVEL FLOT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076276.2 2 2.405966 KEEP 3 0 0 8 226 AA 0.99257 0.4869 0 - 3 60 95 0 0 7.262198 17 60 438 38 ENST00000376389.3 0.15 0.490544 DPCR1 135656 __UNKNOWN__ __UNKNOWN__ 6 30917499 30917499 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:30917499T>C ENST00000462446.1 + 2 1286 c.1258T>C c.(1258-1260)Tct>Cct p.S420P DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 325 NA integral component of membrane (GO:0016021) endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 CTCAGCAGAGTCTACAGAACA 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 154 157 156 NA NA NA 6 NA NA 30917499 692 1591 2283 SO:0001583 missense AB064272 CCDS4692.1, CCDS4692.2 6p21.32 2008-02-05 ENSG00000168631 ENSG00000168631 135656 21666 protein-coding gene gene with protein product 613928 NA 12185533, 10677310 Standard NM_080870 NM_080870 NA Approved PBLT, bCX105N19.6 uc003nsg.2 Q3MIW9 OTTHUMG00000031104 ENST00000462446.1:c.1258T>C chr6.hg19:g.30917499T>C ENSP00000417182:p.Ser420Pro NA C9IZC0|Q658M7|Q8WYN2 hg19 CCDS4692.2 0.02 3.044288 GAGxCTA COVERED . . . . . . . . . . - 0.008 -1.894335 0.00522 . . ENSG00000168631 ENST00000462446 T 0.40225 1.04 2.36 -3.83 0.04269 . . . . . T 0.02156 0.0067 N 0.00823 -1.155 0.18873 N 0.999986 B 0.02656 0.0 B 0.06405 0.002 T 0.28004 -1.0057 9 0.02654 T 1 . 5.5019 0.16833 0.0:0.2027:0.2722:0.5251 . 420 E9PEI6 . P 420 ENSP00000417182:S420P ENSP00000417182:S420P S + 1 0 DPCR1 31025478 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -2.120000 0.01323 -1.537000 0.01736 -0.320000 0.08662 TCT NOVEL DPCR1-001 NOVEL not_organism_supported|basic|CCDS protein_coding NA protein_coding OTTHUMT00000076173.3 13 16.017279 KEEP 0 2 38 67 1987 TT 1 1 0 + 6 60 185 0 0 10.666458 132 60 3737 272 ENST00000462446.1 0.043478 1 DPCR1 135656 __UNKNOWN__ __UNKNOWN__ 6 30918448 30918448 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:30918448T>C ENST00000462446.1 + 2 2235 c.2207T>C c.(2206-2208)tTc>tCc p.F736S DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 300 NA integral component of membrane (GO:0016021) endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 ACCACACCATTCCCAGCAGAG 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 63 65 64 NA NA NA 6 NA NA 30918448 692 1591 2283 SO:0001583 missense AB064272 CCDS4692.1, CCDS4692.2 6p21.32 2008-02-05 ENSG00000168631 ENSG00000168631 135656 21666 protein-coding gene gene with protein product 613928 NA 12185533, 10677310 Standard NM_080870 NM_080870 NA Approved PBLT, bCX105N19.6 uc003nsg.2 Q3MIW9 OTTHUMG00000031104 ENST00000462446.1:c.2207T>C chr6.hg19:g.30918448T>C ENSP00000417182:p.Phe736Ser NA C9IZC0|Q658M7|Q8WYN2 hg19 CCDS4692.2 0.02 3.398569 CATxCCC COVERED . . . . . . . . . . - 0.009 -1.823065 0.00589 . . ENSG00000168631 ENST00000462446 T 0.37915 1.17 1.73 -3.45 0.04781 . . . . . T 0.01765 0.0056 N 0.00642 -1.3 0.09310 N 0.999999 B 0.14438 0.01 B 0.06405 0.002 T 0.29882 -0.9997 9 0.08599 T 0.76 . 4.5467 0.12085 0.151:0.4082:0.0:0.4408 . 736 E9PEI6 . S 736 ENSP00000417182:F736S ENSP00000417182:F736S F + 2 0 DPCR1 31026427 0.000000 0.05858 0.000000 0.03702 0.085000 0.17905 -3.897000 0.00339 -1.907000 0.01087 -1.389000 0.01157 TTC NOVEL DPCR1-001 NOVEL not_organism_supported|basic|CCDS protein_coding NA protein_coding OTTHUMT00000076173.3 17 22.691741 KEEP 3 2 58 96 2841 TT 1 1 0 + 7 60 235 0 0 14.760826 134 60 3803 347 ENST00000462446.1 0.049645 1 HLA-B 3106 __UNKNOWN__ __UNKNOWN__ 6 31322067 31322067 __UNKNOWN__ 3'UTR SNP T T C rs202110486 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:31322067T>C ENST00000412585.2 - 0 1128 NM_005514.6 NP_005505.2 P30486 1B48_HUMAN major histocompatibility complex, class I, B NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612) peptide antigen binding (GO:0042605) endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 AAGACAGCTGTCTCAGGCTAC 0.478 NA Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of T||| 17 0.00339457 0.0053 0 5008 , , NA 15839 0.003 NA 0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database ;Lichen Sclerosis, Familial M15470 CCDS34394.1 6p21.3 2013-01-11 ENSG00000234745 ENSG00000234745 3106 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4932 protein-coding gene gene with protein product 142830 ankylosing spondylitis AS NA 3459708 Standard NM_005514 NM_005514 NA Approved uc011imz.2 P01889 OTTHUMG00000031153 ENST00000412585.2:c.*11A>G chr6.hg19:g.31322067T>C NA Q29764 hg19 CCDS34394.1 0.02 1.704476 CTGxCTC COVERED NOVEL HLA-B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076280.4 2 5.483026 KEEP 0 2 68 42 1338 TT 1 0.998993 0 - 4 33 130 0 0 8.205199 68 60 2051 160 ENST00000412585.2 0.055556 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31492361 31492361 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:31492361T>C NA NA MICB (13460 upstream) : MCCD1 (4132 downstream) NA NA NA tctcgatctcttgacctcatg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.31492361T>C NA hg19 0.02 -0.175382 CTCxTGA UNCOVERED NOVEL 0 8 2.406087 KEEP 5 0 0 8 243 TT 0 0 0 4 60 127 0 0 10.363174 15 60 426 43 0.210526 0.387407 LTA 4049 __UNKNOWN__ __UNKNOWN__ 6 31541521 31541521 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:31541521C>A ENST00000454783.1 + 0 927 LTA_ENST00000418386.2_3'UTR NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha NA NA apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165) extracellular space (GO:0005615)|membrane (GO:0016020) receptor binding (GO:0005102) endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) GACCTTCTCCCCATTCTGCCT 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 26 28 28 NA NA NA 6 NA NA 31541521 2161 4240 6401 SO:0001624 3_prime_UTR_variant X01393 CCDS4701.1 6p21.3 2013-05-22 2013-05-22 ENSG00000226979 ENSG00000226979 4049 Tumor necrosis factor (ligand) superfamily 6709 protein-coding gene gene with protein product TNF superfamily member 1 153440 lymphotoxin alpha (TNF superfamily, member 1) TNFB NA 2995927, 3001529 Standard NM_001159740 NA Approved TNFSF1, LT uc011dnu.2 P01374 OTTHUMG00000031135 ENST00000454783.1:c.*51C>A chr6.hg19:g.31541521C>A NA Q8N4C3|Q9UKS8 hg19 CCDS4701.1 0.02 4.353355 TCCxCAT COVERED NOVEL LTA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259097.1 14 65.865489 KEEP 0 0 0 219 7541 CC 1 1 0 + 73 60 2146 0 0 193.615672 121 60 4038 555 ENST00000454783.1 0.376289 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31565462 31565462 __UNKNOWN__ IGR SNP C C T rs560552827 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:31565462C>T NA NA NCR3 (4700 upstream) : AIF1 (17498 downstream) NA NA NA gtgatccgcccgccttggcct 0.507 NA C||| 5 0.000998403 0.0023 0.0014 5008 , , NA 17887 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.31565462C>T NA hg19 0.02 -0.315707 GCCxGCC UNCOVERED NOVEL 0 11 2.406294 KEEP 3 0 0 8 254 CC 0 0 0 3 45 92 0 0 6.310656 29 60 941 68 0.09375 0.818465 PRRC2A 7916 __UNKNOWN__ __UNKNOWN__ 6 31592827 31592827 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:31592827A>G ENST00000376033.2 + 6 697 PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_Intron NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 cgcccgcctcagcctcccaga 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M31293 CCDS4708.1 6p21.3 2010-12-09 2010-12-09 2010-12-09 ENSG00000204469 ENSG00000204469 7916 13918 protein-coding gene gene with protein product 142580 HLA-B associated transcript 2 BAT2 NA 2156268, 8499947 Standard NM_080686 NM_080686 NA Approved G2, D6S51E uc003nvc.4 P48634 OTTHUMG00000031168 ENST00000376033.2:c.464-121A>G chr6.hg19:g.31592827A>G NA B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6 hg19 CCDS4708.1 0.02 1.47082 CTCxGCC COVERED NOVEL PRRC2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259319.1 5 11.134368 KEEP 0 0 0 37 1186 AA 1 0.999407 0 + 6 60 175 0 1 11.301699 69 60 2044 150 ENST00000376033.2 0.08 0.999407 PRRC2A 7916 __UNKNOWN__ __UNKNOWN__ 6 31592836 31592836 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:31592836G>A ENST00000376033.2 + 6 697 PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_Intron NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 cagcctcccagagtgctggga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M31293 CCDS4708.1 6p21.3 2010-12-09 2010-12-09 2010-12-09 ENSG00000204469 ENSG00000204469 7916 13918 protein-coding gene gene with protein product 142580 HLA-B associated transcript 2 BAT2 NA 2156268, 8499947 Standard NM_080686 NM_080686 NA Approved G2, D6S51E uc003nvc.4 P48634 OTTHUMG00000031168 ENST00000376033.2:c.464-112G>A chr6.hg19:g.31592836G>A NA B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6 hg19 CCDS4708.1 0.02 1.239414 CCAxAGT COVERED NOVEL PRRC2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259319.1 7 12.628793 KEEP 0 0 0 42 1477 GG 1 0.99994 0 + 10 60 287 0 0 19.900859 79 60 2672 185 ENST00000376033.2 0.11236 0.99994 CSNK2B-LY6G5B-1181 0 __UNKNOWN__ __UNKNOWN__ 6 31640268 31640268 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:31640268G>C ENST00000375880.2 + 0 1432 LY6G5B_ENST00000375864.4_3'UTR|LY6G5B_ENST00000471088.1_Intron NA NA NA gtcacccagggtggagtgcag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000375880.2:c.*627G>C chr6.hg19:g.31640268G>C NA hg19 0.02 1.786465 AGGxTGG COVERED NOVEL CSNK2B-LY6G5B-1181-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000124391.5 8 4.687561 KEEP 0 2 76 42 1460 GG 1 0.999559 0 + 4 60 134 0 0 8.653817 66 60 2188 151 ENST00000375880.2 0.057143 0.999559 NOTCH4 4855 __UNKNOWN__ __UNKNOWN__ 6 32165849 32165849 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:32165849T>C ENST00000375023.3 - 26 4895 NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 NA NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ccacccgccttggcctcccaa 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855 Ankyrin repeat domain containing 7884 protein-coding gene gene with protein product 164951 Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila) INT3 NA 7835890 Standard NM_004557 NA Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.4756+348A>G chr6.hg19:g.32165849T>C NA B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 hg19 CCDS34420.1 0.02 -0.236738 CCTxGGC UNCOVERED NOVEL NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076045.2 6 2.407313 KEEP 5 0 0 8 250 TT 0 0 0 - 4 60 116 0 0 8.593168 23 60 649 50 ENST00000375023.3 0.148148 0.612407 HLA-DRB5 3127 __UNKNOWN__ __UNKNOWN__ 6 32497900 32497900 __UNKNOWN__ Splice_Site SNP A A G rs78612727 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:32497900A>G ENST00000374975.3 - 1 163 c.e1+1 NM_002125.3 NP_002116.2 major histocompatibility complex, class II, DR beta 5 NA NA NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2) 10 ATGTGCACTTACGTCGGGTGT 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 99 102 101 NA NA NA 6 NA NA 32497900 2203 4300 6503 SO:0001630 splice_region_variant CCDS4751.1 6p21.3 2013-01-11 ENSG00000198502 ENSG00000198502 3127 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4953 protein-coding gene gene with protein product 604776 NA Standard NM_002125 NM_002125 NA Approved uc003obj.3 Q30154 OTTHUMG00000031027 ENST00000374975.3:c.100+1T>C chr6.hg19:g.32497900A>G NA hg19 CCDS4751.1 0.02 3.90664 CTTxCGT COVERED . . . . . . . . . . . 8.839 0.941693 0.18281 . . ENSG00000198502 ENST00000374975 . . . 4.54 3.3 0.37823 . . . . . . . . . . . 0.35921 D 0.831832 . . . . . . . . . . . . . . 7.4495 0.27229 0.8084:0.0:0.0:0.1916 . . . . . -1 . . . - . . HLA-DRB5 32605878 0.985000 0.35326 0.199000 0.23439 0.019000 0.09904 2.123000 0.41996 1.909000 0.55274 0.397000 0.26171 . NOVEL HLA-DRB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076022.2 3 2.654977 KEEP 8 5 169 68 2057 AA 1 0.999999 0 Intron - 6 60 212 0 0 15.418151 58 60 1651 291 ENST00000374975.3 0.09375 0.999999 HLA-DRB1 3123 __UNKNOWN__ __UNKNOWN__ 6 32548115 32548115 __UNKNOWN__ Intron SNP C C T rs28732257 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:32548115C>T ENST00000360004.5 - 5 869 NM_002124.3 NP_002115.2 Q30167 2B1A_HUMAN major histocompatibility complex, class II, DR beta 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 AACACAATGTCCCAGCCCCAG 0.468 NA Multiple Myeloma(14;0.17) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 22 21 21 NA NA NA 6 NA NA 32548115 672 1463 2135 SO:0001627 intron_variant AJ297583 CCDS47409.1 6p21.3 2013-01-11 ENSG00000196126 ENSG00000196126 3123 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4948 protein-coding gene gene with protein product 142857 HLA-DR1B NA Standard NM_002124 NM_001243965 NA Approved uc011eri.2 P01911 OTTHUMG00000031196 ENST00000360004.5:c.764-68G>A chr6.hg19:g.32548115C>T NA P01914|Q9MYF5 hg19 CCDS47409.1 0.02 1.348318 TGTxCCA COVERED NOVEL HLA-DRB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076393.3 7 4.815337 KEEP 2 0 0 16 556 CC 0.995343 0.986349 0 - 9 60 261 0 0 20.715 35 60 1179 122 ENST00000360004.5 0.204545 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 32557635 32557635 __UNKNOWN__ IGR SNP G G C rs113854737 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:32557635G>C NA NA HLA-DRB1 (10 upstream) : HLA-DQA1 (47498 downstream) NA NA NA TGATTTCCTTGCTCCTGGGTT 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.32557635G>C NA hg19 0.02 1.587211 CTTxCTC COVERED NOVEL 0 4 7.369951 KEEP 0 4 145 75 2698 GG 1 0.999218 0 4 45 134 0 0 9.663092 36 60 1253 225 0.1 0.999218 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 32557691 32557691 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:32557691C>T NA NA HLA-DRB1 (66 upstream) : HLA-DQA1 (47442 downstream) NA NA NA AGTTCAATAGCATCATCAGTT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.32557691C>T NA hg19 0.02 -0.271933 TAGxATC COVERED NOVEL 0 1 3.680791 KEEP 1 2 62 34 1169 CC 0.999999 0.717315 0 3 27 85 0 0 6.410806 15 60 505 69 0.166667 0.717315 HLA-DQB2 3120 __UNKNOWN__ __UNKNOWN__ 6 32724940 32724940 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:32724940A>G ENST00000437316.2 - 5 845 HLA-DQB2_ENST00000435145.2_3'UTR|HLA-DQB2_ENST00000411527.1_Intron P05538 DQB2_HUMAN major histocompatibility complex, class II, DQ beta 2 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 gggattacagatgcacaccac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M83890 CCDS56419.1 6p21.3 2013-01-11 ENSG00000232629 ENSG00000232629 3120 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4945 protein-coding gene gene with protein product 615161 HLA-DXB NA 2564844 Standard NM_001198858 NA Approved uc003oby.4 P05538 OTTHUMG00000031125 ENST00000437316.2:c.781+117T>C chr6.hg19:g.32724940A>G NA A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06 hg19 0.02 1.812881 CAGxTGC COVERED NOVEL HLA-DQB2-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000076216.2 4 3.747378 KEEP 0 1 36 25 816 AA 0.999957 0.998824 0 - 5 60 165 0 0 10.973577 68 60 2062 126 ENST00000437316.2 0.068493 0.998867 HLA-DQB2 3120 __UNKNOWN__ __UNKNOWN__ 6 32724987 32724987 __UNKNOWN__ Intron SNP C C G rs185581808 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:32724987C>G ENST00000437316.2 - 5 845 HLA-DQB2_ENST00000435145.2_3'UTR|HLA-DQB2_ENST00000411527.1_Intron P05538 DQB2_HUMAN major histocompatibility complex, class II, DQ beta 2 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 agtagagatgcggtttcacca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M83890 CCDS56419.1 6p21.3 2013-01-11 ENSG00000232629 ENSG00000232629 3120 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4945 protein-coding gene gene with protein product 615161 HLA-DXB NA 2564844 Standard NM_001198858 NA Approved uc003oby.4 P05538 OTTHUMG00000031125 ENST00000437316.2:c.781+70G>C chr6.hg19:g.32724987C>G NA A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06 hg19 0.02 5.633786 ATGxGGT COVERED NOVEL HLA-DQB2-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000076216.2 32 14.051808 KEEP 1 3 101 82 2854 CC 1 1 0 - 11 60 361 0 0 23.719419 157 60 5223 400 ENST00000437316.2 0.065476 1 HLA-DOA 3111 __UNKNOWN__ __UNKNOWN__ 6 32973397 32973397 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:32973397T>C ENST00000229829.5 - 0 2046 NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886) MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 ctctgtcacctaggctggagt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M31525 CCDS4763.1 6p21.3 2013-01-11 2001-10-05 ENSG00000204252 ENSG00000204252 3111 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4936 protein-coding gene gene with protein product 142930 HLA-DZA, HLA-DNA NA 2370084 Standard NM_002119 XM_005272804 NA Approved HLA-D0-alpha uc003ocr.3 P06340 OTTHUMG00000031211 ENST00000229829.5:c.*1218A>G chr6.hg19:g.32973397T>C NA Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3 hg19 CCDS4763.1 0.02 -0.315669 ACCxAGG COVERED NOVEL HLA-DOA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076426.2 1 5.415536 KEEP 0 0 0 18 544 TT 0.999859 0.835598 0 - 3 60 96 0 0 6.628062 31 60 867 62 ENST00000229829.5 0.088235 0.835716 COL11A2 1302 __UNKNOWN__ __UNKNOWN__ 6 33139899 33139899 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:33139899G>T ENST00000374708.4 - 39 2989 COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000341947.2_Intron NM_080681.2 NP_542412.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 NA NA cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023) collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CAGACATTTGGGGAAGATGAG 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(1;90 116 3946 5341 17093) NA 0 74 91 85 NA NA NA 6 NA NA 33139899 1508 2707 4215 SO:0001627 intron_variant U32169 CCDS43452.1, CCDS54992.1 6p21.3 2013-01-16 ENSG00000204248 ENSG00000204248 1302 Collagens 2187 protein-coding gene gene with protein product 120290 DFNA13, DFNB53 NA 7559422, 10581026 Standard NM_080679 NA Approved HKE5 uc003ocx.1 P13942 OTTHUMG00000031036 ENST00000374708.4:c.2731-19C>A chr6.hg19:g.33139899G>T NA A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9 hg19 CCDS43452.1 0.02 1.354793 TTGxGGA COVERED NOVEL COL11A2-001 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000076032.2 1 14.14584 KEEP 0 0 0 47 1635 GG 1 0.999559 0 - 23 60 649 0 0 54.604096 60 60 1975 188 ENST00000374708.4 0.277108 0.999559 VPS52 6293 __UNKNOWN__ __UNKNOWN__ 6 33221055 33221055 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:33221055T>C ENST00000445902.2 - 18 2013 VPS52_ENST00000478934.1_Intron|VPS52_ENST00000482399.1_Intron|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000436044.2_Intron|HCG25_ENST00000427196.1_RNA NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) NA NA ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031) endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 tcacctgaggtcaggagtttg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ223319 CCDS4770.2 6p21.3 2010-02-17 2006-12-19 2003-09-05 ENSG00000223501 ENSG00000223501 6293 10518 protein-coding gene gene with protein product 603443 SAC2 suppressor of actin mutations 2-like (yeast), vacuolar protein sorting 52 (yeast) SACM2L NA 9790748 Standard NM_022553 NM_022553 NA Approved ARE1 uc003odm.1 Q8N1B4 OTTHUMG00000031276 ENST00000445902.2:c.1795-1307A>G chr6.hg19:g.33221055T>C NA A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5 hg19 CCDS4770.2 0.02 -0.16661 AGGxCAG UNCOVERED NOVEL VPS52-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076598.2 7 2.708047 KEEP 3 0 0 9 285 TT 0 0 0 - 4 24 137 1 0 11.701573 12 60 364 42 ENST00000445902.2 0.25 0.387407 RPS18 6222 __UNKNOWN__ __UNKNOWN__ 6 33241970 33241970 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:33241970T>C ENST00000439602.2 + 2 212 RPS18_ENST00000476222.1_Intron|RPS18_ENST00000474973.1_Intron P62269 RS18_HUMAN ribosomal protein S18 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935) poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 gctgggattataggcgtgagc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X69150 CCDS4771.1 6p21.3 2011-04-05 ENSG00000231500 ENSG00000231500 6222 S ribosomal proteins 10401 protein-coding gene gene with protein product 180473 D6S218E NA 8441687, 9582194 Standard NM_022551 NA Approved KE3, KE-3, HKE3, S18 uc003odp.1 P62269 OTTHUMG00000031053 ENST00000439602.2:c.102+1467T>C chr6.hg19:g.33241970T>C NA P25232|Q5SUJ3|Q6IPF8 hg19 CCDS4771.1 0.02 -0.263054 TTAxAGG COVERED NOVEL RPS18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076059.2 8 3.309504 KEEP 0 0 0 11 333 TT 0.993072 0.688863 0 + 3 60 104 0 0 7.742635 24 60 662 57 ENST00000439602.2 0.111111 0.693668 SYNGAP1 8831 __UNKNOWN__ __UNKNOWN__ 6 33408918 33408918 __UNKNOWN__ Intron SNP A A G rs538693715|rs561866153 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:33408918A>G ENST00000418600.2 + 12 2014 SYNGAP1_ENST00000428982.2_Intron|SYNGAP1_ENST00000496374.1_Intron|SYNGAP1_ENST00000293748.5_Intron NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 NA NA dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542) cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 gtgtgtgtgtatgtgACCTTT 0.483 NA a||| 122 0.024361 0.0038 0.0202 5008 , , NA 17684 0.0218 NA 0.0388 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 105 88 94 NA NA NA 6 NA NA 33408918 2203 4300 6503 SO:0001627 intron_variant AB067525 CCDS34434.2 6p21.3 2010-06-25 2010-06-25 ENSG00000197283 ENSG00000197283 8831 11497 protein-coding gene gene with protein product 603384 synaptic Ras GTPase activating protein 1 homolog (rat) NA 9581761, 18323856 Standard XM_166407 NM_006772 NA Approved SYNGAP, RASA5, KIAA1938 uc011dri.2 Q96PV0 OTTHUMG00000031096 ENST00000418600.2:c.1914-32A>G chr6.hg19:g.33408918A>G NA A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2 hg19 CCDS34434.2 0.02 -0.428439 TGTxTGT COVERED NOVEL SYNGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076151.4 7 5.705456 KEEP 0 0 0 19 524 AA 0.99986 0.954357 0 + 4 60 117 2 1 7.814991 41 60 1100 98 ENST00000418600.2 0.088889 0.954491 NUDT3 11165 __UNKNOWN__ __UNKNOWN__ 6 34272160 34272160 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:34272160A>G ENST00000607016.1 - 3 522 RPS10-NUDT3_ENST00000605528.1_Intron NM_006703.3 NP_006694.1 O95989 NUDT3_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 3 NA NA cell-cell signaling (GO:0007267)|diadenosine polyphosphate catabolic process (GO:0015961)|diphosphoinositol polyphosphate catabolic process (GO:0071544)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|magnesium ion binding (GO:0000287) lung(2) 2 tgggcaacatagtgagacccc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(96;1206 1939 18658 39482) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF062530 CCDS4791.1 6p21.2 2014-07-16 ENSG00000272325 ENSG00000272325 11165 Nudix motif containing 8050 protein-coding gene gene with protein product 609228 NA 9822604 Standard NM_006703 NA Approved DIPP O95989 OTTHUMG00000014545 ENST00000607016.1:c.211-8698T>C chr6.hg19:g.34272160A>G NA B2R8N4 hg19 CCDS4791.1 0.02 -0.324513 CATxGTG COVERED NOVEL NUDT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040224.2 11 2.407282 KEEP 0 0 0 8 250 AA 0.99257 0.829507 0 - 3 60 99 0 0 6.967494 30 60 892 62 ENST00000607016.1 0.090909 0.835716 C6orf106 64771 __UNKNOWN__ __UNKNOWN__ 6 34600566 34600566 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:34600566T>C ENST00000374023.3 - 3 755 C6orf106_ENST00000374021.1_Intron|C6orf106_ENST00000374026.3_Intron NM_024294.2 NP_077270.1 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 NA NA endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 tcccaaagtgttgggattaca 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052106 CCDS4795.1, CCDS4796.1 6p21.31 2012-01-27 ENSG00000196821 ENSG00000196821 64771 21215 protein-coding gene gene with protein product 612217 NA Standard NM_022758 XM_005249298 NA Approved FLJ22195, dJ391O22.4 uc003ojr.2 Q9H6K1 OTTHUMG00000014553 ENST00000374023.3:c.511+13811A>G chr6.hg19:g.34600566T>C NA B2R8K7|Q5VV77|Q96MG5|Q9BUR9 hg19 CCDS4796.1 0.02 -0.385862 GTGxTGG COVERED NOVEL C6orf106-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040251.1 10 3.009413 KEEP 0 0 0 10 326 TT 0.992708 0.911475 0 - 5 60 163 1 0 12.144801 35 60 1021 75 ENST00000374023.3 0.125 0.918171 C6orf106 64771 __UNKNOWN__ __UNKNOWN__ 6 34649986 34649986 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:34649986A>G ENST00000374023.3 - 1 402 C6orf106_ENST00000374026.3_Intron NM_024294.2 NP_077270.1 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 NA NA endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 ctgtcacccaagctggagtgc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052106 CCDS4795.1, CCDS4796.1 6p21.31 2012-01-27 ENSG00000196821 ENSG00000196821 64771 21215 protein-coding gene gene with protein product 612217 NA Standard NM_022758 XM_005249298 NA Approved FLJ22195, dJ391O22.4 uc003ojr.2 Q9H6K1 OTTHUMG00000014553 ENST00000374023.3:c.158+14236T>C chr6.hg19:g.34649986A>G NA B2R8K7|Q5VV77|Q96MG5|Q9BUR9 hg19 CCDS4796.1 0.02 -0.394647 CCAxGCT COVERED NOVEL C6orf106-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040251.1 8 2.708581 KEEP 1 0 0 9 296 AA 0.99254 0.919727 0 - 3 60 109 0 0 7.705403 37 60 1088 70 ENST00000374023.3 0.075 0.92664 TAF11 6882 __UNKNOWN__ __UNKNOWN__ 6 34853558 34853558 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:34853558A>C ENST00000361288.4 - 1 303 TAF11_ENST00000420584.2_Intron NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa NA NA gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669) DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809) endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 tggagaccagactgggcaaca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X83928 CCDS4797.1, CCDS59014.1 6p21 2008-02-05 2002-08-29 2001-12-07 ENSG00000064995 ENSG00000064995 6882 11544 protein-coding gene gene with protein product 600772 TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD TAF2I NA 7729427, 8820923 Standard NM_005643 NM_005643 NA Approved TAFII28 uc003ojw.2 Q15544 OTTHUMG00000014556 ENST00000361288.4:c.171+2005T>G chr6.hg19:g.34853558A>C NA B2R8R3|B4DY18|Q9UHS0 hg19 CCDS4797.1 0.02 -0.333255 CAGxCTG COVERED NOVEL TAF11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040259.1 10 3.610848 KEEP 0 0 0 12 384 AA 0.993634 0.84656 0 - 3 60 101 1 0 7.087345 32 60 939 73 ENST00000361288.4 0.085714 0.851984 TAF11 6882 __UNKNOWN__ __UNKNOWN__ 6 34853641 34853641 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:34853641A>G ENST00000361288.4 - 1 303 TAF11_ENST00000420584.2_Intron NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa NA NA gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669) DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809) endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 gctcatgcctataatcccagc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X83928 CCDS4797.1, CCDS59014.1 6p21 2008-02-05 2002-08-29 2001-12-07 ENSG00000064995 ENSG00000064995 6882 11544 protein-coding gene gene with protein product 600772 TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD TAF2I NA 7729427, 8820923 Standard NM_005643 NM_005643 NA Approved TAFII28 uc003ojw.2 Q15544 OTTHUMG00000014556 ENST00000361288.4:c.171+1922T>C chr6.hg19:g.34853641A>G NA B2R8R3|B4DY18|Q9UHS0 hg19 CCDS4797.1 0.02 -0.350732 CCTxTAA COVERED NOVEL TAF11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040259.1 8 2.708142 KEEP 0 0 0 9 277 AA 0.99254 0.87116 0 - 4 60 143 0 0 10.756684 32 60 875 64 ENST00000361288.4 0.111111 0.877708 SCUBE3 222663 __UNKNOWN__ __UNKNOWN__ 6 35219224 35219224 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:35219224A>G ENST00000274938.7 + 0 5724 NM_152753.2 NP_689966.2 signal peptide, CUB domain, EGF-like 3 NA NA breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 caccgcgcccagccTAGGATA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF452494.1 CCDS4800.1 6p21.3 2008-02-05 2004-05-19 2004-05-21 ENSG00000146197 222663 13655 protein-coding gene gene with protein product 614708 CUB domain and EGF-like repeat containing 3 CEGF3 NA 12270931 Standard NM_152753 NM_152753 NA Approved FLJ34743 uc003okf.1 Q8IX30 ENST00000274938.7:c.*2742A>G chr6.hg19:g.35219224A>G NA hg19 CCDS4800.1 0.02 7.563886 CCCxGCC COVERED NOVEL SCUBE3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040275.1 35 15.069272 KEEP 0 1 37 63 1960 AA 1 1 0 + 7 60 240 0 1 14.113641 197 60 5843 422 ENST00000274938.7 0.034314 1 ZNF76 7629 __UNKNOWN__ __UNKNOWN__ 6 35258450 35258450 __UNKNOWN__ Silent SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:35258450A>T ENST00000373953.3 + 7 848 c.582A>T c.(580-582)ccA>ccT p.P194P ZNF76_ENST00000339411.5_Silent_p.P194P|ZNF76_ENST00000440666.2_Silent_p.P168P NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 194 NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 GTGACCGTCCATACAGATGTG 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(52;92 1039 20612 23956 34676) NA 0 168 143 152 NA NA NA 6 NA NA 35258450 2203 4300 6503 SO:0001819 synonymous_variant M91592 CCDS4801.1, CCDS75435.1 6p21.31 2013-01-08 2011-02-25 ENSG00000065029 ENSG00000065029 7629 Zinc fingers, C2H2-type 13149 protein-coding gene gene with protein product 194549 zinc finger protein 76 (expressed in testis) D6S229E NA 1427894 Standard NM_003427 XM_005249364 NA Approved Zfp523, ZNF523 uc003oki.1 P36508 OTTHUMG00000014564 ENST00000373953.3:c.582A>T chr6.hg19:g.35258450A>T NA Q9BQB2 hg19 CCDS4801.1 0.02 2.947785 TCCxTAC COVERED NOVEL ZNF76-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040279.2 1 15.343819 KEEP 0 0 0 51 1573 AA 1 0.999998 0 + 32 60 951 1 0 80.847738 83 60 2439 244 ENST00000373953.3 0.278261 0.999998 PPARD 5467 __UNKNOWN__ __UNKNOWN__ 6 35333182 35333182 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:35333182C>G ENST00000311565.4 + 2 152 PPARD_ENST00000540939.1_Intron|PPARD_ENST00000360694.3_Intron|PPARD_ENST00000448077.2_Intron|PPARD_ENST00000444397.1_Intron|PPARD_ENST00000337400.2_Intron|PPARD_ENST00000418635.2_Intron NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta NA NA adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) ctcccaaagtcctgggattac 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L07592 CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1 6p21.2 2013-01-16 2006-10-17 ENSG00000112033 ENSG00000112033 5467 Nuclear hormone receptors 9235 protein-coding gene gene with protein product 600409 peroxisome proliferative activated receptor, delta NA 1333051 Standard NM_006238 NM_177435 NA Approved NUC1, NUCII, FAAR, NR1C2 uc003okm.3 Q03181 OTTHUMG00000014567 ENST00000311565.4:c.-198+18255C>G chr6.hg19:g.35333182C>G NA A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4 hg19 CCDS4803.1 0.02 -0.307012 AGTxCTG COVERED NOVEL PPARD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040288.1 10 2.407386 KEEP 2 0 0 8 261 CC 0.99257 0.812384 0 + 4 60 130 0 1 9.675217 28 60 936 66 ENST00000311565.4 0.125 0.818465 PPARD 5467 __UNKNOWN__ __UNKNOWN__ 6 35392850 35392850 __UNKNOWN__ Intron SNP A A G rs199516943 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:35392850A>G ENST00000311565.4 + 8 1427 PPARD_ENST00000540939.1_Intron|PPARD_ENST00000360694.3_Intron|PPARD_ENST00000448077.2_Intron|PPARD_ENST00000444397.1_3'UTR|PPARD_ENST00000337400.2_3'UTR|PPARD_ENST00000418635.2_Intron NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta NA NA adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) aggagttcgaaaccagcctgg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L07592 CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1 6p21.2 2013-01-16 2006-10-17 ENSG00000112033 ENSG00000112033 5467 Nuclear hormone receptors 9235 protein-coding gene gene with protein product 600409 peroxisome proliferative activated receptor, delta NA 1333051 Standard NM_006238 NM_177435 NA Approved NUC1, NUCII, FAAR, NR1C2 uc003okm.3 Q03181 OTTHUMG00000014567 ENST00000311565.4:c.1078+294A>G chr6.hg19:g.35392850A>G NA A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4 hg19 CCDS4803.1 0.02 -0.420821 CGAxACC COVERED NOVEL PPARD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040288.1 8 3.142388 KEEP 3 1 36 23 659 AA 0.999909 0.948316 0 + 5 60 138 0 0 9.377641 40 60 1071 85 ENST00000311565.4 0.111111 0.948402 TEAD3 7005 __UNKNOWN__ __UNKNOWN__ 6 35448356 35448356 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:35448356A>T ENST00000402886.3 - 3 304 TEAD3_ENST00000338863.7_Intron Q99594 TEAD3_HUMAN TEA domain family member 3 NA NA female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 tcctcccaccacagcctcccg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X94439 CCDS47414.1 6p21.2 2008-07-28 ENSG00000007866 ENSG00000007866 7005 11716 protein-coding gene gene with protein product 603170 TEAD5 NA 9889009, 9148898 Standard NM_003214 NA Approved TEF-5, ETFR-1 uc003oku.4 Q99594 OTTHUMG00000014571 ENST00000402886.3:c.151-1263T>A chr6.hg19:g.35448356A>T NA O95910|Q5BJG7|Q8N6Y4 hg19 0.02 1.672308 ACCxCAG COVERED NOVEL TEAD3-005 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000316961.2 7 4.813041 KEEP 0 0 0 16 462 AA 0.997832 0.984015 0 - 4 60 129 0 0 8.654576 49 60 1331 91 ENST00000402886.3 0.075472 0.986153 TEAD3 7005 __UNKNOWN__ __UNKNOWN__ 6 35456800 35456800 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:35456800T>C ENST00000402886.3 - 2 53 TEAD3_ENST00000338863.7_Intron Q99594 TEAD3_HUMAN TEA domain family member 3 NA NA female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 tcccaaagtgttgggattaca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X94439 CCDS47414.1 6p21.2 2008-07-28 ENSG00000007866 ENSG00000007866 7005 11716 protein-coding gene gene with protein product 603170 TEAD5 NA 9889009, 9148898 Standard NM_003214 NA Approved TEF-5, ETFR-1 uc003oku.4 Q99594 OTTHUMG00000014571 ENST00000402886.3:c.101-2312A>G chr6.hg19:g.35456800T>C NA O95910|Q5BJG7|Q8N6Y4 hg19 0.02 -0.368331 GTGxTGG COVERED NOVEL TEAD3-005 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000316961.2 8 2.708311 KEEP 0 0 0 9 288 TT 0.99254 0.892605 0 - 4 60 129 1 0 9.30736 33 60 953 76 ENST00000402886.3 0.108108 0.899314 FKBP5 2289 __UNKNOWN__ __UNKNOWN__ 6 35682332 35682332 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:35682332G>A ENST00000536438.1 - 2 297 NM_001145775.1 NP_001139247.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 NA NA chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 ggtggctcacgcctgtaatca 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U42031 CCDS4808.1, CCDS54996.1 6p21.31 2013-01-10 2001-11-28 ENSG00000096060 ENSG00000096060 2289 Tetratricopeptide (TTC) repeat domain containing 3721 protein-coding gene gene with protein product 602623 FK506-binding protein 5 NA 9001212 Standard NM_004117 NA Approved FKBP51, FKBP54, PPIase, P54, Ptg-10 uc003okx.2 Q13451 OTTHUMG00000014576 ENST00000536438.1:c.18+5772C>T chr6.hg19:g.35682332G>A NA F5H7R1|Q59EB8|Q5TGM6 hg19 CCDS4808.1 0.02 -0.385898 CACxCCT COVERED NOVEL FKBP5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 10 2.708124 KEEP 0 0 0 9 286 GG 0.99254 0.911321 0 - 4 60 115 0 0 7.678542 38 60 1261 76 ENST00000536438.1 0.095238 0.918171 MAPK14 1432 __UNKNOWN__ __UNKNOWN__ 6 36007552 36007552 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:36007552T>C ENST00000229795.3 + 1 563 MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 NA NA 3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 gaggccaaggtgggcggatca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L35263 CCDS4815.1, CCDS4816.1, CCDS4817.1 6p21.3-p21.2 2011-06-09 ENSG00000112062 ENSG00000112062 1432 Mitogen-activated protein kinase cascade / Kinases 6876 protein-coding gene gene with protein product p38 MAP kinase 600289 CSPB1, CSBP1, CSBP2 NA 7997261 Standard NM_001315 NM_139012 NA Approved PRKM14, p38, Mxi2, PRKM15 uc003olq.3 Q16539 OTTHUMG00000159806 ENST00000229795.3:c.116+11502T>C chr6.hg19:g.36007552T>C NA A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0 hg19 CCDS4815.1 0.02 -0.254177 AGGxGGG COVERED NOVEL MAPK14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000357449.1 6 3.009283 KEEP 4 0 0 10 320 TT 0.99254 0.711964 0 + 3 40 97 0 0 6.993904 25 60 723 73 ENST00000229795.3 0.107143 0.717315 MAPK14 1432 __UNKNOWN__ __UNKNOWN__ 6 36055644 36055644 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:36055644A>G ENST00000229795.3 + 8 1129 MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 NA NA 3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 gaggcatcacactacctgact 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L35263 CCDS4815.1, CCDS4816.1, CCDS4817.1 6p21.3-p21.2 2011-06-09 ENSG00000112062 ENSG00000112062 1432 Mitogen-activated protein kinase cascade / Kinases 6876 protein-coding gene gene with protein product p38 MAP kinase 600289 CSPB1, CSBP1, CSBP2 NA 7997261 Standard NM_001315 NM_139012 NA Approved PRKM14, p38, Mxi2, PRKM15 uc003olq.3 Q16539 OTTHUMG00000159806 ENST00000229795.3:c.682+11259A>G chr6.hg19:g.36055644A>G NA A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0 hg19 CCDS4815.1 0.02 -0.21926 CACxCTA COVERED NOVEL MAPK14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000357449.1 7 3.308649 KEEP 0 0 0 11 331 AA 0.993072 0.549057 0 + 3 60 102 0 0 7.648874 22 60 657 54 ENST00000229795.3 0.12 0.552887 MAPK14 1432 __UNKNOWN__ __UNKNOWN__ 6 36076381 36076381 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:36076381A>G ENST00000229795.3 + 0 1687 MAPK14_ENST00000468133.1_3'UTR|MAPK14_ENST00000229794.4_3'UTR NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 NA NA 3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 gtgtgtgtgcatgtgtgtgtc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L35263 CCDS4815.1, CCDS4816.1, CCDS4817.1 6p21.3-p21.2 2011-06-09 ENSG00000112062 ENSG00000112062 1432 Mitogen-activated protein kinase cascade / Kinases 6876 protein-coding gene gene with protein product p38 MAP kinase 600289 CSPB1, CSBP1, CSBP2 NA 7997261 Standard NM_001315 NM_139012 NA Approved PRKM14, p38, Mxi2, PRKM15 uc003olq.3 Q16539 OTTHUMG00000159806 ENST00000229795.3:c.*157A>G chr6.hg19:g.36076381A>G NA A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0 hg19 CCDS4815.1 0.02 3.569825 TGCxTGT COVERED NOVEL MAPK14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000357449.1 9 11.734148 KEEP 0 0 0 39 1198 AA 1 0.999997 0 + 6 60 203 0 1 13.081803 103 60 2964 206 ENST00000229795.3 0.055046 0.999997 KCTD20 222658 __UNKNOWN__ __UNKNOWN__ 6 36458604 36458604 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:36458604C>T ENST00000373731.2 + 0 5303 NM_173562.3 NP_775833.2 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerization domain containing 20 NA NA protein homooligomerization (GO:0051260) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 agggcaagaccctgtctcaaT 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC023525 CCDS4821.1, CCDS69096.1, CCDS69097.1 6p21.31 2013-06-20 2013-06-20 2006-06-26 ENSG00000112078 ENSG00000112078 222658 21052 protein-coding gene gene with protein product 615932 chromosome 6 open reading frame 69, potassium channel tetramerisation domain containing 20 C6orf69 NA Standard NM_173562 NM_001286580 NA Approved dJ108K11.3, MGC14254 uc003ome.3 Q7Z5Y7 OTTHUMG00000014597 ENST00000373731.2:c.*3652C>T chr6.hg19:g.36458604C>T NA B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55 hg19 CCDS4821.1 0.02 1.400112 GACxCTG COVERED NOVEL KCTD20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040345.2 14 7.523865 KEEP 1 0 0 25 851 CC 0.999931 0.999766 0 + 5 60 151 0 0 9.345146 76 60 2476 145 ENST00000373731.2 0.061728 0.999835 STK38 11329 __UNKNOWN__ __UNKNOWN__ 6 36465775 36465775 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:36465775A>G ENST00000229812.7 - 12 1362 NM_007271.2 NP_009202.1 serine/threonine kinase 38 NA NA NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ggagtgcagtagcacaatcat 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(180;997 3561 16158) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4822.1 6p21 2006-10-06 ENSG00000112079 ENSG00000112079 11329 17847 protein-coding gene gene with protein product 606964 NA 7761441 Standard NM_007271 NM_007271 NA Approved NDR uc003omh.3 Q15208 OTTHUMG00000014598 ENST00000229812.7:c.1077-123T>C chr6.hg19:g.36465775A>G NA hg19 CCDS4822.1 0.02 -0.324489 AGTxGCA COVERED NOVEL STK38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040346.1 4 3.00716 KEEP 0 0 0 10 288 AA 0.992708 0.829622 0 - 3 47 104 0 0 7.426491 31 60 891 50 ENST00000229812.7 0.088235 0.835716 STK38 11329 __UNKNOWN__ __UNKNOWN__ 6 36492269 36492269 __UNKNOWN__ Intron SNP C C G rs3752479 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:36492269C>G ENST00000229812.7 - 4 469 NM_007271.2 NP_009202.1 serine/threonine kinase 38 NA NA NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGGAGGAGACGGGAAGGAAC 0.398 NA G||| 1558 0.311102 0.4607 0.219 5008 , , NA 17478 0.378 NA 0.2227 False NA ,,, NA NA NA 2504 0.1963 NA NA NA Colon(180;997 3561 16158) NA 0 G 1764,2634 353,1058,788 36 38 37 NA -0.6 0 6 dbSNP_107 37 1646,6950 153,1340,2805 no intron STK38 NM_007271.2 506,2398,3593 GG,GC,CC NA 19.1484,40.1091,26.2429 36492269 3410,9584 2199 4298 6497 SO:0001627 intron_variant CCDS4822.1 6p21 2006-10-06 ENSG00000112079 ENSG00000112079 11329 17847 protein-coding gene gene with protein product 606964 NA 7761441 Standard NM_007271 NM_007271 NA Approved NDR uc003omh.3 Q15208 OTTHUMG00000014598 ENST00000229812.7:c.184-29G>C chr6.hg19:g.36492269C>G NA hg19 CCDS4822.1 0.02 1.447131 AGAxGGG COVERED NOVEL STK38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040346.1 2 12.939762 KEEP 0 0 0 43 1412 CC 1 0.999948 0 - 4 60 131 0 0 7.794395 92 60 2820 181 ENST00000229812.7 0.041667 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 36643497 36643497 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:36643497A>G NA NA Y_RNA (2776 upstream) : CDKN1A (2090 downstream) NA NA NA ttacaggcgtaagccaccacg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.36643497A>G NA hg19 0.02 1.692857 CGTxAGC COVERED NOVEL 0 11 4.211649 KEEP 1 0 0 14 416 AA 0.995343 0.99105 0 5 60 168 0 0 11.605706 58 60 1564 111 0.079365 0.995687 CPNE5 57699 __UNKNOWN__ __UNKNOWN__ 6 36730698 36730698 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:36730698T>C ENST00000244751.2 - 12 1475 c.851A>G c.(850-852)tAt>tGt p.Y284C NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 284 NA extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCTCACCTCATAGATGTTGAA 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 139 109 119 NA NA NA 6 NA NA 36730698 2203 4300 6503 SO:0001583 missense H09181 CCDS4825.1 6p21.2 2010-05-28 ENSG00000124772 ENSG00000124772 57699 2318 protein-coding gene gene with protein product 604209 NA 9430674 Standard NM_020939 NM_020939 NA Approved CPN5, COPN5, KIAA1599 uc003omr.1 Q9HCH3 OTTHUMG00000014602 ENST00000244751.2:c.851A>G chr6.hg19:g.36730698T>C ENSP00000244751:p.Tyr284Cys NA Q7Z6C8 hg19 CCDS4825.1 0.02 5.517491 TCAxAGA COVERED . . . . . . . . . . T 21.9 4.219304 0.79464 . . ENSG00000124772 ENST00000244751 T 0.46451 0.87 5.49 5.49 0.81192 C2 calcium/lipid-binding domain, CaLB (1); 0.124403 0.56097 D 0.000029 T 0.60157 0.2247 M 0.88842 2.985 0.80722 D 1 D 0.67145 0.996 P 0.61940 0.896 T 0.69866 -0.5029 10 0.87932 D 0 . 13.8363 0.63410 0.0:0.0:0.0:1.0 . 284 Q9HCH3 CPNE5_HUMAN C 284 ENSP00000244751:Y284C ENSP00000244751:Y284C Y - 2 0 CPNE5 36838676 1.000000 0.71417 0.998000 0.56505 0.897000 0.52465 7.319000 0.79040 2.225000 0.72522 0.379000 0.24179 TAT NOVEL CPNE5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040351.1 3 27.961253 KEEP 0 0 0 93 2806 TT 1 1 0 - 20 60 669 0 0 48.936917 165 60 4552 379 ENST00000244751.2 0.108108 1 C6orf89 221477 __UNKNOWN__ __UNKNOWN__ 6 36882510 36882510 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:36882510G>A ENST00000355190.3 + 5 879 C6orf89_ENST00000373685.1_Intron|C6orf89_ENST00000480824.2_Intron|C6orf89_ENST00000359359.2_Intron|C6orf89_ENST00000510325.2_Intron NM_152734.3 NP_689947.2 Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 NA NA epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 tcatgcctgtgatcccagcac 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 69 73 72 NA NA NA 6 NA NA 36882510 2203 4300 6503 SO:0001627 intron_variant AK058086 CCDS4827.1, CCDS69100.1, CCDS75444.1 6p21.31 2013-03-14 ENSG00000198663 ENSG00000198663 221477 21114 protein-coding gene gene with protein product bombesin receptor activated protein NA 21857995, 23460338 Standard NM_152734 NM_152734 NA Approved FLJ25357, BRAP uc003omw.3 Q6UWU4 OTTHUMG00000014613 ENST00000355190.3:c.716+41G>A chr6.hg19:g.36882510G>A NA B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35 hg19 CCDS4827.1 0.02 0.835804 TGTxATC COVERED NOVEL C6orf89-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040385.2 2 5.552049 KEEP 0 1 30 29 982 GG 0.999997 0.999945 0 + 7 60 190 0 0 11.711073 82 60 2548 152 ENST00000355190.3 0.078652 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 37053953 37053953 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:37053953T>A NA NA COX6A1P2 (40776 upstream) : PIM1 (84025 downstream) NA NA NA ggtggctcactcctgtaatcc 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.37053953T>A NA hg19 0.02 -0.184162 CACxCCT COVERED NOVEL 0 6 2.707623 KEEP 1 0 0 9 273 TT 0.99254 0.420319 0 4 60 114 0 0 8.869694 17 60 506 42 0.190476 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 37135580 37135580 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:37135580T>C NA NA COX6A1P2 (122403 upstream) : PIM1 (2398 downstream) NA NA NA aggcggatcataaggtcagga 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.37135580T>C NA hg19 0.02 -0.394555 TCAxAAG COVERED NOVEL 0 7 3.60936 KEEP 1 0 0 12 349 TT 0.993634 0.920741 0 3 60 102 0 1 7.006673 37 60 1021 71 0.075 0.92664 RNF8 9025 __UNKNOWN__ __UNKNOWN__ 6 37326821 37326821 __UNKNOWN__ Intron SNP A A G rs368293510 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:37326821A>G ENST00000373479.4 + 2 304 RNF8_ENST00000394443.4_Intron|RNF8_ENST00000479516.1_Intron|RNF8_ENST00000469731.1_Intron NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase NA NA cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511) chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151) acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 gcagtgagctaagatcgtgcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB012770 CCDS4833.1, CCDS4834.1 6p21.3 2013-01-09 2012-02-23 ENSG00000112130 ENSG00000112130 9025 RING-type (C3HC4) zinc fingers 10071 protein-coding gene gene with protein product 611685 ring finger protein (C3HC4 type) 8, ring finger protein 8 NA 9734811, 9852682 Standard NM_003958 NA Approved KIAA0646 uc003onq.4 O76064 OTTHUMG00000014620 ENST00000373479.4:c.112-1401A>G chr6.hg19:g.37326821A>G NA A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5 hg19 CCDS4834.1 0.02 -0.23673 GCTxAGA COVERED NOVEL RNF8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040403.2 1 3.610759 KEEP 0 0 0 12 367 AA 0.993634 0.608508 0 + 4 60 129 0 0 10.280539 18 60 484 45 ENST00000373479.4 0.181818 0.612407 CMTR1 23070 __UNKNOWN__ __UNKNOWN__ 6 37438174 37438174 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:37438174A>G ENST00000373451.4 + 14 1669 NM_015050.2 NP_055865.1 Q8N1G2 CMTR1_HUMAN cap methyltransferase 1 NA NA 7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009) cytoplasm (GO:0005737)|nucleus (GO:0005634) mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676) NA cgcccgcctcagcctcccaaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031890 CCDS4835.1 6p21.2 2013-07-23 2013-07-23 2013-07-23 ENSG00000137200 ENSG00000137200 23070 2.1.1.57 G patch domain containing 21077 protein-coding gene gene with protein product KIAA0082, FtsJ methyltransferase domain containing 2 KIAA0082, FTSJD2 NA 20713356 Standard NM_015050 NM_015050 NA Approved MTr1, ISG95 uc003ons.3 Q8N1G2 OTTHUMG00000014624 ENST00000373451.4:c.1506-623A>G chr6.hg19:g.37438174A>G NA A8K949|Q14670|Q96FJ9 hg19 CCDS4835.1 0.02 -0.368399 CTCxGCC COVERED NOVEL CMTR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040408.1 7 2.708432 KEEP 6 0 0 9 289 AA 0.99257 0.892632 0 + 3 60 100 0 0 6.806469 37 60 1136 88 ENST00000373451.4 0.075 0.899314 ZFAND3 60685 __UNKNOWN__ __UNKNOWN__ 6 37866956 37866956 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:37866956A>G ENST00000287218.4 + 2 518 ZFAND3_ENST00000373391.2_Intron NM_021943.2 NP_068762.1 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 NA NA DNA binding (GO:0003677)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(4)|lung(2)|ovary(1) 9 atttacaggcatgagccacca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023284 CCDS4836.1 6p21.2 2013-09-19 2005-12-15 2005-12-15 ENSG00000156639 ENSG00000156639 60685 Zinc fingers, AN1-type domain containing 18019 protein-coding gene gene with protein product 607455 testis expressed sequence 27 TEX27 NA Standard NM_021943 NM_021943 NA Approved FLJ13222 uc003onx.3 Q9H8U3 OTTHUMG00000014629 ENST00000287218.4:c.72-30779A>G chr6.hg19:g.37866956A>G NA Q5SZZ0|Q5SZZ1 hg19 CCDS4836.1 0.02 -0.359592 GGCxTGA COVERED NOVEL ZFAND3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040424.3 9 2.407141 KEEP 1 0 0 8 245 AA 0.99257 0.882271 0 + 3 40 98 0 0 6.787559 32 60 946 79 ENST00000287218.4 0.085714 0.888875 BTBD9 114781 __UNKNOWN__ __UNKNOWN__ 6 38302916 38302916 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:38302916A>T ENST00000419706.2 - 7 1433 BTBD9_ENST00000408958.1_Intron|BTBD9_ENST00000403056.1_Intron|BTBD9_ENST00000481247.1_Intron|BTBD9_ENST00000314100.6_Intron Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 NA NA adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 tctgccatgaatgtaagtttc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43458.1, CCDS47418.1, CCDS54998.1 6p21 2014-01-28 ENSG00000183826 ENSG00000183826 114781 BTB/POZ domain containing 21228 protein-coding gene gene with protein product 611237 NA 11572484 Standard NM_152733 NM_052893 NA Approved KIAA1880, dJ322I12.1 uc010jwx.3 Q96Q07 OTTHUMG00000014634 ENST00000419706.2:c.1174+9843T>A chr6.hg19:g.38302916A>T NA Q494V9|Q494W1|Q96M00 hg19 CCDS54998.1 0.02 -0.403349 TGAxTGT COVERED NOVEL BTBD9-005 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000040436.3 7 3.310098 KEEP 0 0 0 11 346 AA 0.993072 0.928018 0 - 4 60 107 0 0 6.884371 38 60 1082 79 ENST00000419706.2 0.095238 0.934492 KCNK5 8645 __UNKNOWN__ __UNKNOWN__ 6 39162575 39162575 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:39162575G>A ENST00000359534.3 - 3 637 NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 NA NA excretion (GO:0007588)|potassium ion transport (GO:0006813) integral component of plasma membrane (GO:0005887) potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CAGGAGGGGTGGTCAAACCAG 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 29 35 33 NA NA NA 6 NA NA 39162575 2203 4299 6502 SO:0001627 intron_variant AF084830 CCDS4841.1 6p21 2012-03-07 ENSG00000164626 ENSG00000164626 8645 Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P 6280 protein-coding gene gene with protein product 603493 NA 9812978, 16382106 Standard NM_003740 XM_005249456 NA Approved K2p5.1, TASK-2 uc003oon.3 O95279 OTTHUMG00000014642 ENST00000359534.3:c.299-39C>T chr6.hg19:g.39162575G>A NA B2RAQ6|B5TJL2|Q5VV76 hg19 CCDS4841.1 0.02 1.145166 GGTxGTC COVERED NOVEL KCNK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040449.1 0 7.219188 KEEP 0 0 0 24 767 GG 0.999909 0.99811 0 - 5 60 133 0 0 7.761089 69 60 2155 102 ENST00000359534.3 0.067568 0.9982 KIF6 221458 __UNKNOWN__ __UNKNOWN__ 6 39299077 39299077 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:39299077A>G ENST00000287152.7 - 0 7770 NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 NA NA ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 cgagtagctgagactacaggc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832634 CCDS4844.1, CCDS75449.1 6p21.2 2010-03-30 ENSG00000164627 ENSG00000164627 221458 Kinesins 21202 protein-coding gene gene with protein product 613919 chromosome 6 open reading frame 102 C6orf102 NA Standard NM_145027 NM_145027 NA Approved dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418 uc003oot.2 Q6ZMV9 OTTHUMG00000014648 ENST00000287152.7:c.*5231T>C chr6.hg19:g.39299077A>G NA Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4 hg19 CCDS4844.1 0.02 13.238121 CTGxGAC COVERED NOVEL KIF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040455.2 94 10.474719 KEEP 1 4 144 85 2767 AA 1 1 0 - 13 60 452 0 0 26.969874 357 60 10867 676 ENST00000287152.7 0.035135 1 KIF6 221458 __UNKNOWN__ __UNKNOWN__ 6 39299207 39299207 __UNKNOWN__ 3'UTR SNP T T C rs374117021 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:39299207T>C ENST00000287152.7 - 0 7640 NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 NA NA ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 gttgcccaggttggagtgcag 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832634 CCDS4844.1, CCDS75449.1 6p21.2 2010-03-30 ENSG00000164627 ENSG00000164627 221458 Kinesins 21202 protein-coding gene gene with protein product 613919 chromosome 6 open reading frame 102 C6orf102 NA Standard NM_145027 NM_145027 NA Approved dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418 uc003oot.2 Q6ZMV9 OTTHUMG00000014648 ENST00000287152.7:c.*5101A>G chr6.hg19:g.39299207T>C NA Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4 hg19 CCDS4844.1 0.02 6.185257 AGGxTGG COVERED NOVEL KIF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040455.2 8 6.254439 KEEP 1 1 35 33 1064 TT 0.999998 0.999998 0 - 14 60 470 1 0 33.317292 140 60 4143 251 ENST00000287152.7 0.090909 1 KIF6 221458 __UNKNOWN__ __UNKNOWN__ 6 39302238 39302238 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:39302238T>C ENST00000287152.7 - 0 4609 NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 NA NA ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 tgcctgtagttccagctactt 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832634 CCDS4844.1, CCDS75449.1 6p21.2 2010-03-30 ENSG00000164627 ENSG00000164627 221458 Kinesins 21202 protein-coding gene gene with protein product 613919 chromosome 6 open reading frame 102 C6orf102 NA Standard NM_145027 NM_145027 NA Approved dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418 uc003oot.2 Q6ZMV9 OTTHUMG00000014648 ENST00000287152.7:c.*2070A>G chr6.hg19:g.39302238T>C NA Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4 hg19 CCDS4844.1 0.02 1.473916 AGTxCCA COVERED NOVEL KIF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040455.2 12 2.407175 KEEP 0 0 0 8 247 TT 0.99257 0.992466 0 - 5 60 153 0 0 9.467381 79 60 2151 131 ENST00000287152.7 0.059524 0.999895 KIF6 221458 __UNKNOWN__ __UNKNOWN__ 6 39607559 39607559 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:39607559C>G ENST00000287152.7 - 4 346 KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373216.3_Intron|KIF6_ENST00000538893.1_Intron NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 NA NA ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GACACACTTTCAATATCAACA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 91 74 80 NA NA NA 6 NA NA 39607559 2203 4300 6503 SO:0001627 intron_variant AL832634 CCDS4844.1, CCDS75449.1 6p21.2 2010-03-30 ENSG00000164627 ENSG00000164627 221458 Kinesins 21202 protein-coding gene gene with protein product 613919 chromosome 6 open reading frame 102 C6orf102 NA Standard NM_145027 NM_145027 NA Approved dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418 uc003oot.2 Q6ZMV9 OTTHUMG00000014648 ENST00000287152.7:c.252-26G>C chr6.hg19:g.39607559C>G NA Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4 hg19 CCDS4844.1 0.02 1.918058 TTTxAAT COVERED NOVEL KIF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040455.2 1 7.524564 KEEP 0 0 0 25 884 CC 0.999931 0.993634 0 - 39 60 1269 0 0 126.90507 25 60 857 126 ENST00000287152.7 0.609375 0.993703 TREML2 79865 __UNKNOWN__ __UNKNOWN__ 6 41162605 41162605 __UNKNOWN__ Intron SNP C C T rs574402521 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:41162605C>T ENST00000483722.1 - 3 562 NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 NA NA T cell activation (GO:0042110) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) GTTAGATTGACTTGGGTGCCT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 57 55 56 NA NA NA 6 NA NA 41162605 2203 4300 6503 SO:0001627 intron_variant AK023755 CCDS4853.1, CCDS4853.2 6p21.1 2013-01-11 2004-04-14 2004-04-16 ENSG00000112195 ENSG00000112195 79865 Immunoglobulin superfamily / V-set domain containing 21092 protein-coding gene gene with protein product TREM-like transcript 2 609715 chromosome 6 open reading frame 76 C6orf76 NA 12645956 Standard NM_024807 NM_024807 NA Approved FLJ13693, TLT2, dJ238O23.1 uc010jxm.1 Q5T2D2 OTTHUMG00000016349 ENST00000483722.1:c.377-34G>A chr6.hg19:g.41162605C>T NA Q08AP8|Q08AP9|Q8IWY0|Q9H8E9 hg19 CCDS4853.2 0.02 -0.412229 TGAxTTG COVERED NOVEL TREML2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043756.3 1 6.320488 KEEP 0 0 0 21 759 CC 0.999869 0.941618 0 - 29 60 848 0 0 85.039763 18 60 612 91 ENST00000483722.1 0.617021 0.941741 PGC 5225 __UNKNOWN__ __UNKNOWN__ 6 41709105 41709105 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:41709105C>T ENST00000373025.3 - 6 710 PGC_ENST00000425343.2_Intron NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) NA NA digestion (GO:0007586)|proteolysis (GO:0006508) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) aspartic-type endopeptidase activity (GO:0004190) endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TGCCTAAggccgggcgcagtg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4859.1, CCDS55000.1 6p21.1 2012-10-02 ENSG00000096088 ENSG00000096088 5225 3.4.23.3 8890 protein-coding gene gene with protein product 169740 NA Standard NM_002630 NA Approved uc003ora.2 P20142 OTTHUMG00000014683 ENST00000373025.3:c.648-757G>A chr6.hg19:g.41709105C>T NA B4DVZ3|Q5T3D7|Q5T3D8 hg19 CCDS4859.1 0.02 -0.25438 GGCxGGG COVERED NOVEL PGC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040521.2 8 2.407171 KEEP 0 0 0 8 255 CC 0.99257 0.663556 0 - 3 60 90 0 0 6.449688 22 60 713 46 ENST00000373025.3 0.12 0.668523 USP49 25862 __UNKNOWN__ __UNKNOWN__ 6 41766282 41766282 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:41766282A>G ENST00000394253.3 - 6 2206 USP49_ENST00000297229.2_3'UTR|USP49_ENST00000373009.3_Intron|USP49_ENST00000373006.1_3'UTR|USP49_ENST00000373010.1_Intron Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 NA NA histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ccaaagcgctaggattacagg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ586139 CCDS4861.1, CCDS69111.1 6p12.1 2008-02-05 2005-08-08 ENSG00000164663 ENSG00000164663 25862 Ubiquitin-specific peptidases 20078 protein-coding gene gene with protein product ubiquitin specific protease 49 NA 14715245 Standard NM_018561 NM_018561 NA Approved MGC20741 uc003ori.3 Q70CQ1 OTTHUMG00000014688 ENST00000394253.3:c.1876+179T>C chr6.hg19:g.41766282A>G NA Q5T3D9|Q5T3E0|Q96CK4 hg19 0.02 7.432157 GCTxGGA COVERED NOVEL USP49-007 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000316513.3 39 18.124947 KEEP 1 2 71 85 2649 AA 1 1 0 - 8 60 260 0 0 14.850569 216 60 6278 483 ENST00000394253.3 0.035714 1 USP49 25862 __UNKNOWN__ __UNKNOWN__ 6 41823847 41823847 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:41823847T>C ENST00000394253.3 - 2 302 USP49_ENST00000373010.1_Intron|USP49_ENST00000373006.1_Intron|USP49_ENST00000297229.2_Intron Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 NA NA histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) cgctgtggcttatgcctgtaa 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ586139 CCDS4861.1, CCDS69111.1 6p12.1 2008-02-05 2005-08-08 ENSG00000164663 ENSG00000164663 25862 Ubiquitin-specific peptidases 20078 protein-coding gene gene with protein product ubiquitin specific protease 49 NA 14715245 Standard NM_018561 NM_018561 NA Approved MGC20741 uc003ori.3 Q70CQ1 OTTHUMG00000014688 ENST00000394253.3:c.27+15454A>G chr6.hg19:g.41823847T>C NA Q5T3D9|Q5T3E0|Q96CK4 hg19 0.02 -0.333205 GCTxATG COVERED NOVEL USP49-007 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000316513.3 9 2.707585 KEEP 0 0 0 9 264 TT 0.99254 0.845628 0 - 3 60 95 0 0 6.568768 30 60 826 68 ENST00000394253.3 0.090909 0.851984 TAF8 129685 __UNKNOWN__ __UNKNOWN__ 6 42025412 42025412 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42025412T>C ENST00000465926.1 + 5 720 TAF8_ENST00000372978.3_3'UTR|TAF8_ENST00000494547.1_Intron|TAF8_ENST00000456846.2_Intron|TAF8_ENST00000372977.3_Intron|TAF8_ENST00000372982.4_Intron|TAF8_ENST00000482926.1_Intron Q7Z7C8 TAF8_HUMAN TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa NA NA cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) aatcccagcattttaggaggc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057383 CCDS43462.1 6p21.1 2008-10-23 2007-07-30 2007-07-30 ENSG00000137413 ENSG00000137413 129685 17300 protein-coding gene gene with protein product 609514 TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa, taube nuss homolog (mouse) TBN NA Standard NM_138572 NM_138572 NA Approved FLJ32821, TAF(II)43 uc003ors.3 Q7Z7C8 OTTHUMG00000014692 ENST00000465926.1:c.300+161T>C chr6.hg19:g.42025412T>C NA Q5T0K1|Q8N4R9|Q96M52 hg19 0.02 5.862372 GCAxTTT COVERED NOVEL TAF8-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357904.2 19 22.534517 KEEP 0 0 0 75 2331 TT 1 1 0 + 12 60 384 0 0 26.202501 132 60 3882 289 ENST00000465926.1 0.083333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 42517617 42517617 __UNKNOWN__ IGR SNP G G A rs529234983 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42517617G>A NA NA snoU13 (44273 upstream) : UBR2 (14182 downstream) NA NA NA gcggtggctcgcgcctgtaat 0.483 NA g||| 1 0.000199681 0 0 5008 , , NA 16405 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.42517617G>A NA hg19 0.02 -0.254377 CTCxCGC COVERED NOVEL 0 6 2.407825 KEEP 0 0 0 8 282 GG 0.99257 0.663556 0 3 60 90 0 0 6.450018 22 60 717 57 0.12 0.668523 UBR2 23304 __UNKNOWN__ __UNKNOWN__ 6 42643682 42643682 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42643682A>G ENST00000372899.1 + 39 4509 UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372901.1_Intron NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 NA NA cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511) chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151) leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) gcaacagagtaagactctgtc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024217 CCDS4870.1, CCDS55001.1 6p21.1 2008-06-23 2005-01-10 2005-01-12 ENSG00000024048 ENSG00000024048 23304 Ubiquitin protein ligase E3 component n-recognins 21289 protein-coding gene gene with protein product 609134 chromosome 6 open reading frame 133 C6orf133 NA Standard NM_015255 NM_015255 NA Approved bA49A4.1, dJ392M17.3, KIAA0349 uc011dur.2 Q8IWV8 OTTHUMG00000014703 ENST00000372899.1:c.4252-112A>G chr6.hg19:g.42643682A>G NA O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0 hg19 CCDS4870.1 0.02 5.762976 AGTxAGA COVERED NOVEL UBR2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040558.2 22 13.664344 KEEP 1 1 33 57 1640 AA 1 1 0 + 7 60 232 1 2 14.59582 128 60 3497 288 ENST00000372899.1 0.051852 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 42744352 42744352 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42744352T>C NA NA TBCC (29794 upstream) : GLTSCR1L (5412 downstream) NA NA NA tcccaaagtgttaggattaca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.42744352T>C NA hg19 0.02 -0.228049 GTGxTAG COVERED NOVEL 0 4 2.708576 KEEP 0 0 0 9 304 TT 0.99254 0.578582 0 3 60 102 0 0 7.705454 21 60 636 49 0.125 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 42744354 42744354 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42744354A>G NA NA TBCC (29796 upstream) : GLTSCR1L (5410 downstream) NA NA NA ccaaagtgttaggattacagg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.42744354A>G NA hg19 0.02 -0.22804 GTTxGGA COVERED NOVEL 0 4 3.009379 KEEP 0 0 0 10 321 AA 0.992708 0.578679 0 3 60 99 0 0 7.406003 21 60 624 48 0.125 0.58293 GLTSCR1L 23506 __UNKNOWN__ __UNKNOWN__ 6 42820147 42820147 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42820147G>C ENST00000314073.5 + 7 2121 GLTSCR1L_ENST00000394168.1_Intron Q6AI39 GSC1L_HUMAN GLTSCR1-like NA NA NA cgcctgtaatgccagcacttt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833540 CCDS34451.1 6p21.1 2012-11-29 2012-11-29 2012-11-29 ENSG00000112624 ENSG00000112624 23506 21111 protein-coding gene gene with protein product KIAA0240 KIAA0240 NA Standard NM_015349 XM_005248972 NA Approved uc003osp.1 Q6AI39 OTTHUMG00000014706 ENST00000314073.5:c.1945+212G>C chr6.hg19:g.42820147G>C NA A1L3W2|Q5TFZ3|Q92514 hg19 CCDS34451.1 0.02 3.836054 AATxCCA COVERED NOVEL GLTSCR1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040562.3 13 13.71577 KEEP 0 2 67 69 2464 GG 1 1 0 + 11 60 371 0 0 26.733517 101 60 3455 238 ENST00000314073.5 0.098214 1 RPL7L1 285855 __UNKNOWN__ __UNKNOWN__ 6 42855968 42855968 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42855968T>C ENST00000493763.1 + 0 2810 RPL7L1_ENST00000304734.5_3'UTR NM_198486.2 NP_940888.2 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 NA NA ribosome (GO:0005840) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) tctcagctcattgcagcctcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4873.1 6p21.1 2011-01-14 ENSG00000146223 ENSG00000146223 285855 L ribosomal proteins 21370 protein-coding gene gene with protein product NA Standard XM_209769 NM_198486 NA Approved dJ475N16.4 uc003osq.1 Q6DKI1 OTTHUMG00000014710 ENST00000493763.1:c.*1766T>C chr6.hg19:g.42855968T>C NA A8K7D4|B7Z652|Q5TFZ5|Q6PEK3 hg19 CCDS4873.1 0.02 3.514435 TCAxTGC COVERED NOVEL RPL7L1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314417.1 17 7.222603 KEEP 0 0 0 24 785 TT 0.999909 0.999909 0 + 6 60 185 0 0 10.686387 131 60 3790 214 ENST00000493763.1 0.043796 1 RPL7L1 285855 __UNKNOWN__ __UNKNOWN__ 6 42856087 42856087 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42856087A>G ENST00000493763.1 + 0 2929 RPL7L1_ENST00000304734.5_3'UTR NM_198486.2 NP_940888.2 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 NA NA ribosome (GO:0005840) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) atggagacagagtttcaccat 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4873.1 6p21.1 2011-01-14 ENSG00000146223 ENSG00000146223 285855 L ribosomal proteins 21370 protein-coding gene gene with protein product NA Standard XM_209769 NM_198486 NA Approved dJ475N16.4 uc003osq.1 Q6DKI1 OTTHUMG00000014710 ENST00000493763.1:c.*1885A>G chr6.hg19:g.42856087A>G NA A8K7D4|B7Z652|Q5TFZ5|Q6PEK3 hg19 CCDS4873.1 0.02 1.517282 CAGxGTT COVERED NOVEL RPL7L1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314417.1 13 5.852049 KEEP 1 1 33 31 980 AA 0.999997 0.999765 0 + 4 60 132 2 0 8.068281 83 60 2469 155 ENST00000493763.1 0.045977 0.999768 PEX6 5190 __UNKNOWN__ __UNKNOWN__ 6 42934954 42934954 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42934954A>G ENST00000304611.8 - 8 1954 PEX6_ENST00000244546.4_Intron NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 NA NA ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625) cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403) NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) tgatccgcccacctcggcctc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U56602 CCDS4877.1 6p22-p11 2010-04-21 ENSG00000124587 ENSG00000124587 5190 ATPases / AAA-type 8859 protein-coding gene gene with protein product 601498 NA 8670792 Standard NM_000287 NM_000287 NA Approved PXAAA1, PAF-2 uc003otf.3 Q13608 OTTHUMG00000014713 ENST00000304611.8:c.1884+151T>C chr6.hg19:g.42934954A>G NA Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476 hg19 CCDS4877.1 0.02 1.932578 CCCxCCT COVERED NOVEL PEX6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040569.1 6 3.009295 KEEP 1 0 0 10 318 AA 0.992708 0.96037 0 - 4 60 126 0 0 8.459819 46 60 1361 77 ENST00000304611.8 0.08 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 42948657 42948657 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42948657G>C NA NA PEX6 (1699 upstream) : PPP2R5D (3579 downstream) NA NA NA gtggctcatggctgtaatccc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.42948657G>C NA hg19 0.02 1.953209 ATGxCTG COVERED NOVEL 0 5 3.345986 KEEP 0 1 34 23 804 GG 0.999909 0.990874 0 4 60 137 0 0 9.289956 54 60 1777 97 0.068966 0.990964 RRP36 88745 __UNKNOWN__ __UNKNOWN__ 6 42993625 42993625 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42993625T>C ENST00000244496.5 + 4 355 NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) NA NA ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 gagccgagattgcaccactgc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC011933 CCDS34453.1 6p21.1 2010-07-06 2010-07-06 2010-07-06 ENSG00000124541 ENSG00000124541 88745 21374 protein-coding gene gene with protein product 613475 chromosome 6 open reading frame 153 C6orf153 NA 20038530 Standard NM_033112 NM_033112 NA Approved dJ20C7.4 uc003otp.1 Q96EU6 OTTHUMG00000014715 ENST00000244496.5:c.346-150T>C chr6.hg19:g.42993625T>C NA Q9BRF6|Q9P0C8 hg19 CCDS34453.1 0.02 -0.32442 GATxGCA COVERED NOVEL RRP36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040572.1 4 2.707395 KEEP 1 0 0 9 257 TT 0.99257 0.859313 0 + 3 60 96 0 0 6.588183 32 60 882 54 ENST00000244496.5 0.085714 0.865745 RRP36 88745 __UNKNOWN__ __UNKNOWN__ 6 42994494 42994494 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:42994494C>G ENST00000244496.5 + 5 460 NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) NA NA ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 tgttatcccaccactttggga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC011933 CCDS34453.1 6p21.1 2010-07-06 2010-07-06 2010-07-06 ENSG00000124541 ENSG00000124541 88745 21374 protein-coding gene gene with protein product 613475 chromosome 6 open reading frame 153 C6orf153 NA 20038530 Standard NM_033112 NM_033112 NA Approved dJ20C7.4 uc003otp.1 Q96EU6 OTTHUMG00000014715 ENST00000244496.5:c.451-422C>G chr6.hg19:g.42994494C>G NA Q9BRF6|Q9P0C8 hg19 CCDS34453.1 0.02 -0.315803 CCAxCAC COVERED NOVEL RRP36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040572.1 12 4.815829 KEEP 1 0 0 16 571 CC 0.997832 0.81669 0 + 3 60 97 0 0 7.04313 24 60 809 74 ENST00000244496.5 0.111111 0.818465 MRPL2 51069 __UNKNOWN__ __UNKNOWN__ 6 43025305 43025305 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:43025305T>C ENST00000230413.5 - 2 278 MRPL2_ENST00000388752.3_Intron|MRPL2_ENST00000489623.1_Intron Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 NA NA translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) tggtcttgaattcctggcctc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051617 CCDS34454.1, CCDS75458.1 6p21.3 2012-09-13 ENSG00000112651 ENSG00000112651 51069 Mitochondrial ribosomal proteins / large subunits 14056 protein-coding gene gene with protein product 611822 NA Standard XM_005249161 NA Approved MRP-L14, RPML14, CGI-22 uc003ots.1 Q5T653 OTTHUMG00000014719 ENST00000230413.5:c.265+497A>G chr6.hg19:g.43025305T>C NA B2RC56|Q8WUL1|Q96Q56|Q9Y311 hg19 0.02 -0.402738 GAAxTCC COVERED NOVEL MRPL2-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358052.1 4 3.008074 KEEP 0 0 0 10 295 TT 0.992708 0.927678 0 - 5 60 117 1 0 7.527634 37 60 1025 72 ENST00000230413.5 0.119048 0.934492 MRPL2 51069 __UNKNOWN__ __UNKNOWN__ 6 43025340 43025340 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:43025340T>C ENST00000487429.1 - 0 873 MRPL2_ENST00000230413.5_Intron|MRPL2_ENST00000388752.3_Intron|MRPL2_ENST00000489623.1_Intron Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 NA NA translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) ccttggcctctcaaagtgttg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051617 CCDS34454.1, CCDS75458.1 6p21.3 2012-09-13 ENSG00000112651 ENSG00000112651 51069 Mitochondrial ribosomal proteins / large subunits 14056 protein-coding gene gene with protein product 611822 NA Standard XM_005249161 NA Approved MRP-L14, RPML14, CGI-22 uc003ots.1 Q5T653 OTTHUMG00000014719 ENST00000487429.1:c.*549A>G chr6.hg19:g.43025340T>C NA B2RC56|Q8WUL1|Q96Q56|Q9Y311 hg19 0.02 1.718892 CTCxCAA COVERED NOVEL MRPL2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358048.1 14 3.309696 KEEP 1 0 0 11 346 TT 0.992708 0.986456 0 - 5 60 170 0 0 11.952463 54 60 1664 122 ENST00000487429.1 0.084746 0.993703 PTK7 5754 __UNKNOWN__ __UNKNOWN__ 6 43129418 43129418 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:43129418C>T ENST00000230419.4 + 0 4233 PTK7_ENST00000349241.2_3'UTR|PTK7_ENST00000352931.2_3'UTR|PTK7_ENST00000345201.2_3'UTR NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 NA NA actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060) cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) tttgtttttACACTCGCTGCT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF447176 CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1 6p21.1-p12.2 2013-02-18 2013-02-18 ENSG00000112655 ENSG00000112655 5754 2.7.10.1 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9618 protein-coding gene gene with protein product 601890 PTK7 protein tyrosine kinase 7 NA 7478540 Standard NM_002821 NA Approved CCK4 uc011dve.2 Q13308 OTTHUMG00000014721 ENST00000230419.4:c.*799C>T chr6.hg19:g.43129418C>T NA A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8 hg19 CCDS4884.1 0.02 0.827854 TTAxACT COVERED NOVEL PTK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040580.2 6 16.55199 KEEP 0 0 0 55 1929 CC 1 0.999956 0 + 5 60 134 2 0 7.237587 93 60 3090 222 ENST00000230419.4 0.05102 0.999956 TTBK1 84630 __UNKNOWN__ __UNKNOWN__ 6 43252141 43252141 __UNKNOWN__ Intron SNP T T C rs7763131 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:43252141T>C ENST00000259750.4 + 14 3655 NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 NA NA substantia nigra development (GO:0021762) cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TCAGGGGCTATGGAAGATCAG 0.627 NA T||| 1788 0.357029 0.5386 0.2262 5008 , , NA 14324 0.378 NA 0.2296 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058758 CCDS34455.1 6p21.1 2008-02-05 ENSG00000146216 ENSG00000146216 84630 19140 protein-coding gene gene with protein product NA 11347906 Standard XM_006715229 NA Approved KIAA1855 uc003ouq.1 Q5TCY1 OTTHUMG00000014725 ENST00000259750.4:c.3572+91T>C chr6.hg19:g.43252141T>C NA A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2 hg19 CCDS34455.1 0.02 -0.131572 CTAxGGA COVERED NOVEL TTBK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040584.3 0 3.008074 KEEP 0 0 0 10 296 TT 0.992708 0.227502 0 + 3 60 98 0 0 7.972201 12 60 369 26 ENST00000259750.4 0.2 0.229173 ZNF318 24149 __UNKNOWN__ __UNKNOWN__ 6 43326280 43326280 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:43326280A>G ENST00000361428.2 - 3 626 ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 NA NA meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) gattacaggcatgagccaccg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF090114 CCDS4895.2 6p21.1 2013-09-19 ENSG00000171467 ENSG00000171467 24149 Zinc fingers, C2H2-type 13578 protein-coding gene gene with protein product NA 10873617 Standard NM_014345 NM_014345 NA Approved HRIHFB2436, ZFP318 uc003oux.3 Q5VUA4 OTTHUMG00000014732 ENST00000361428.2:c.549-777T>C chr6.hg19:g.43326280A>G NA O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9 hg19 CCDS4895.2 0.02 -0.377117 GGCxTGA COVERED NOVEL ZNF318-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040601.2 10 2.70846 KEEP 0 0 0 9 290 AA 0.99254 0.902287 0 - 3 60 98 0 0 6.676103 35 60 1024 69 ENST00000361428.2 0.078947 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 43394678 43394678 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:43394678T>G NA NA ZNF318 (57497 upstream) : ABCC10 (613 downstream) NA NA NA agaatcgctttaacccgggag 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.43394678T>G NA hg19 0.02 -0.394429 CTTxAAC COVERED NOVEL 0 4 2.706196 KEEP 1 0 0 9 254 TT 0.99254 0.919727 0 3 60 95 0 0 6.34236 36 60 919 70 0.076923 0.92664 TMEM63B 55362 __UNKNOWN__ __UNKNOWN__ 6 44109598 44109598 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:44109598G>C ENST00000259746.9 + 10 965 TMEM63B_ENST00000323267.6_Intron Q5T3F8 CSCL2_HUMAN transmembrane protein 63B NA NA ion transport (GO:0006811) integral component of membrane (GO:0016021) nucleotide binding (GO:0000166) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) gtggctcatggctgtaatccc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022095 CCDS34461.1 6p21.1 2008-02-05 2005-07-25 2005-07-25 ENSG00000137216 ENSG00000137216 55362 17735 protein-coding gene gene with protein product chromosome 6 open reading frame 110 C6orf110 NA Standard XM_166410 XM_005249211 NA Approved DKFZp434P0531, dJ421H19.2 uc003owr.3 Q5T3F8 OTTHUMG00000014757 ENST00000259746.9:c.782+763G>C chr6.hg19:g.44109598G>C NA B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5 hg19 CCDS34461.1 0.02 -0.105269 ATGxCTG UNCOVERED NOVEL TMEM63B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040712.2 2 3.912838 KEEP 1 0 0 13 468 GG 0.993634 0.138942 0 + 3 60 103 0 0 8.800971 9 60 298 34 ENST00000259746.9 0.25 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 44177973 44177973 __UNKNOWN__ IGR SNP G G C rs545423866 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:44177973G>C NA NA CAPN11 (25834 upstream) : RP1-302G2.5 (6702 downstream) NA NA NA tgagccaccgggcccggccAA 0.488 NA C||| 1 0.000199681 0 0 5008 , , NA 13130 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.44177973G>C NA hg19 0.02 -0.201755 CCGxGCC UNCOVERED NOVEL 0 6 2.407585 KEEP 2 0 0 8 273 GG 0 0 0 3 60 95 0 0 7.260924 17 60 562 44 0.15 0.522161 SLC29A1 2030 __UNKNOWN__ __UNKNOWN__ 6 44199630 44199630 __UNKNOWN__ Intron SNP A A G rs375816497 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:44199630A>G ENST00000393841.1 + 11 1355 SLC29A1_ENST00000313248.7_Intron|SLC29A1_ENST00000427851.2_Intron|SLC29A1_ENST00000371713.1_Intron|SLC29A1_ENST00000472176.1_Intron|SLC29A1_ENST00000371740.5_Intron|SLC29A1_ENST00000371755.3_Intron|SLC29A1_ENST00000371724.1_Intron|SLC29A1_ENST00000371731.1_Intron|SLC29A1_ENST00000371708.1_Intron|SLC29A1_ENST00000393844.1_Intron NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 NA NA cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) nucleoside transmembrane transporter activity (GO:0005337) endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943) caaagtgctgagattacaggc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U81375 CCDS4908.1 6p21.1 2013-07-17 2013-07-17 ENSG00000112759 ENSG00000112759 2030 Solute carriers 11003 protein-coding gene gene with protein product 602193 solute carrier family 29 (nucleoside transporters), member 1 ENT1 NA 8986748, 9344680 Standard NM_004955 NA Approved uc003owy.2 Q99808 OTTHUMG00000014759 ENST00000393841.1:c.865-105A>G chr6.hg19:g.44199630A>G NA B3KQV7|B3KQY5|Q5T9W9|Q9UJY2 hg19 CCDS4908.1 0.02 3.865406 CTGxGAT COVERED NOVEL SLC29A1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040721.1 15 7.126665 KEEP 1 3 104 60 1942 AA 1 0.999984 0 + 6 60 207 0 0 13.99516 84 60 2530 216 ENST00000393841.1 0.066667 0.999984 HSP90AB1 3326 __UNKNOWN__ __UNKNOWN__ 6 44221299 44221299 __UNKNOWN__ Silent SNP C C T rs143048794 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:44221299C>T ENST00000371554.1 + 12 2353 c.2139C>T c.(2137-2139)ggC>ggT p.G713G HSP90AB1_ENST00000353801.3_Silent_p.G713G|HSP90AB1_ENST00000371646.5_Silent_p.G713G P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 713 NA axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134) p.G713G(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTCTCGAGGGCGATGAGGATG 0.498 NA OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) lung(1) 79 82 81 NA NA NA 6 NA NA 44221299 2203 4300 6503 SO:0001819 synonymous_variant AF275719 CCDS4909.1 6p12 2011-09-02 2006-02-24 2006-02-24 ENSG00000096384 ENSG00000096384 3326 Heat shock proteins / HSPC 5258 protein-coding gene gene with protein product 140572 heat shock 90kD protein 1, beta, heat shock 90kDa protein 1, beta HSPC2, HSPCB NA 2768249, 16269234 Standard NM_007355 NM_001271969 NA Approved uc031sor.1 P08238 OTTHUMG00000014761 ENST00000371554.1:c.2139C>T chr6.hg19:g.44221299C>T 922 B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6 hg19 CCDS4909.1 0.02 4.420876 GGGxGAT COVERED NOVEL HSP90AB1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040730.1 4 3.656354 KEEP 0 18 509 192 6631 CC 1 1 0 + 26 60 716 0 0 52.102875 149 60 4963 528 ENST00000371554.1 0.148571 1 HSP90AB1 3326 __UNKNOWN__ __UNKNOWN__ 6 44221316 44221316 __UNKNOWN__ Missense_Mutation SNP G G A rs76772157 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:44221316G>A ENST00000371554.1 + 12 2370 c.2156G>A c.(2155-2157)cGc>cAc p.R719H HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R719H|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R719H P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 719 NA axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134) p.R719H(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GATGCGTCTCGCATGGAAGAA 0.522 NA OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) skin(1) 72 75 74 NA NA NA 6 NA NA 44221316 2203 4300 6503 SO:0001583 missense AF275719 CCDS4909.1 6p12 2011-09-02 2006-02-24 2006-02-24 ENSG00000096384 ENSG00000096384 3326 Heat shock proteins / HSPC 5258 protein-coding gene gene with protein product 140572 heat shock 90kD protein 1, beta, heat shock 90kDa protein 1, beta HSPC2, HSPCB NA 2768249, 16269234 Standard NM_007355 NM_001271969 NA Approved uc031sor.1 P08238 OTTHUMG00000014761 ENST00000371554.1:c.2156G>A chr6.hg19:g.44221316G>A ENSP00000360609:p.Arg719His 922 B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6 hg19 CCDS4909.1 0.02 4.190224 CTCxCAT COVERED . . . . . . . . . . G 16.35 3.099702 0.56183 . . ENSG00000096384 ENST00000371646;ENST00000353801;ENST00000371554 T;T;T 0.09723 2.95;2.95;2.95 3.91 3.91 0.45181 . 0.000000 0.64402 U 0.000001 T 0.06554 0.0168 M 0.61703 1.905 0.80722 D 1 B;B;B 0.30584 0.004;0.286;0.002 B;B;B 0.30029 0.11;0.092;0.013 T 0.06499 -1.0823 10 0.44086 T 0.13 -1.7567 12.0789 0.53659 0.0881:0.0:0.9119:0.0 . 681;709;719 B4DMA2;B4DGL0;P08238 .;.;HS90B_HUMAN H 719 ENSP00000360709:R719H;ENSP00000325875:R719H;ENSP00000360609:R719H ENSP00000325875:R719H R + 2 0 HSP90AB1 44329294 1.000000 0.71417 0.999000 0.59377 0.961000 0.63080 5.571000 0.67404 2.188000 0.69820 0.609000 0.83330 CGC NOVEL HSP90AB1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040730.1 7 27.058306 KEEP 0 12 379 223 7426 GG 1 1 0 + 11 60 332 0 0 20.172882 181 60 5905 610 ENST00000371554.1 0.057292 1 GPR110 266977 __UNKNOWN__ __UNKNOWN__ 6 46987967 46987967 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:46987967T>C ENST00000371253.2 - 7 827 GPR110_ENST00000371243.2_3'UTR|GPR110_ENST00000449332.2_Intron NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 tggtggctcatgcctgtaatc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB083618 CCDS4920.1, CCDS34471.1 6p21.1 2014-08-08 ENSG00000153292 ENSG00000153292 266977 -, GPCR / Class B : Orphans 18990 protein-coding gene gene with protein product NA 12435584, 14623098 Standard NM_153840 XM_005249006 NA Approved hGPCR36, PGR19 uc003oyt.3 Q5T601 OTTHUMG00000014795 ENST00000371253.2:c.611+499A>G chr6.hg19:g.46987967T>C NA Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615 hg19 CCDS34471.1 0.02 1.801008 TCAxGCC COVERED NOVEL GPR110-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040810.2 12 8.726276 KEEP 2 0 0 29 913 TT 0.999997 0.995684 0 - 4 60 132 0 0 8.920142 50 60 1458 122 ENST00000371253.2 0.074074 0.995687 PKHD1 5314 __UNKNOWN__ __UNKNOWN__ 6 51732807 51732807 __UNKNOWN__ Silent SNP C C T rs12210295 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:51732807C>T ENST00000371117.3 - 48 7862 c.7587G>A c.(7585-7587)ggG>ggA p.G2529G PKHD1_ENST00000340994.4_Silent_p.G2529G NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2529 NA cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337) anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372) receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAGACAGAGACCCATCCAAGT 0.428 NA C||| 1841 0.367612 0.3018 0.4006 5008 , , NA 19219 0.1518 NA 0.6213 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 C , 1533,2873 484.2+/-360.0 274,985,944 82 77 79 NA 7587,7587 -0.8 1 6 dbSNP_120 79 5430,3168 653.0+/-401.0 1740,1950,609 no coding-synonymous,coding-synonymous PKHD1 NM_138694.3,NM_170724.2 , 2014,2935,1553 TT,TC,CC NA 36.8458,34.7935,46.4549 , 2529/4075,2529/3397 51732807 6963,6041 2203 4299 6502 SO:0001819 synonymous_variant AF480064 CCDS4935.1, CCDS4936.1 6p21.2-p12 2012-11-26 2003-04-16 ENSG00000170927 ENSG00000170927 5314 9016 protein-coding gene gene with protein product tigmin, polyductin, fibrocystin 606702 TIG multiple domains 1 TIGM1 NA 9503014 Standard NM_138694 NM_138694 NA Approved ARPKD, FCYT uc003pah.1 P08F94 OTTHUMG00000014841 ENST00000371117.3:c.7587G>A chr6.hg19:g.51732807C>T NA Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9 hg19 CCDS4935.1 0.02 2.751637 AGAxCCA COVERED NOVEL PKHD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040893.1 5 12.259482 KEEP 0 1 32 52 1825 CC 1 1 0 - 7 60 212 0 0 12.813018 119 60 4026 271 ENST00000371117.3 0.055556 1 PKHD1 5314 __UNKNOWN__ __UNKNOWN__ 6 51947257 51947257 __UNKNOWN__ Silent SNP G G A rs6901799 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:51947257G>A ENST00000371117.3 - 4 489 c.214C>T c.(214-216)Ctg>Ttg p.L72L PKHD1_ENST00000340994.4_Silent_p.L72L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 72 IPT/TIG 1; atypical. NA cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337) anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372) receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACACTCCGCAGTGCGGGCACC 0.507 NA G||| 353 0.0704872 0.0651 0.0764 5008 , , NA 19004 0.0367 NA 0.1163 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 G , 356,4050 184.0+/-211.4 16,324,1863 163 168 166 NA 214,214 -2.6 0 6 dbSNP_116 166 997,7603 214.8+/-254.3 65,867,3368 no coding-synonymous,coding-synonymous PKHD1 NM_138694.3,NM_170724.2 , 81,1191,5231 AA,AG,GG NA 11.593,8.0799,10.4029 , 72/4075,72/3397 51947257 1353,11653 2203 4300 6503 SO:0001819 synonymous_variant AF480064 CCDS4935.1, CCDS4936.1 6p21.2-p12 2012-11-26 2003-04-16 ENSG00000170927 ENSG00000170927 5314 9016 protein-coding gene gene with protein product tigmin, polyductin, fibrocystin 606702 TIG multiple domains 1 TIGM1 NA 9503014 Standard NM_138694 NM_138694 NA Approved ARPKD, FCYT uc003pah.1 P08F94 OTTHUMG00000014841 ENST00000371117.3:c.214C>T chr6.hg19:g.51947257G>A NA Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9 hg19 CCDS4935.1 0.02 0.986472 GCAxTGC COVERED NOVEL PKHD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040893.1 2 12.942397 KEEP 0 0 0 43 1561 GG 1 0.999881 0 - 5 60 147 0 0 8.711402 85 60 2910 191 ENST00000371117.3 0.055556 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 52787553 52787553 __UNKNOWN__ IGR SNP C C G rs803625 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:52787553C>G NA NA GSTA3 (13070 upstream) : RP1-214M20.2 (16970 downstream) NA NA NA actccattttcttatgtacta 0.433 NA -||| 771 0.153954 0.0968 0.1787 5008 , , NA 18857 0.0754 NA 0.2833 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.52787553C>G NA hg19 0.02 -0.307033 TTTxTTA COVERED NOVEL 0 1 3.009906 KEEP 3 0 0 10 361 CC 0.99254 0.812359 0 4 60 121 1 0 8.663309 30 60 1021 67 0.117647 0.818465 FBXO9 26268 __UNKNOWN__ __UNKNOWN__ 6 52964167 52964167 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:52964167A>G ENST00000323557.7 + 0 3184 FBXO9_ENST00000244426.6_3'UTR NM_033480.2 NP_258441.1 Q9UK97 FBX9_HUMAN F-box protein 9 NA NA fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146) cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842) kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1) 9 Lung NSC(77;0.103) ctccagcctgagcaacacagt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF155114 CCDS55022.1, CCDS55023.1, CCDS55024.1 6p12.3-p11.2 2004-06-15 2004-06-15 ENSG00000112146 ENSG00000112146 26268 F-boxes / other 13588 protein-coding gene gene with protein product 609091 F-box only protein 9 NA 10531035, 10531037 Standard NM_012347 NA Approved FBX9, NY-REN-57 uc021zao.1 Q9UK97 OTTHUMG00000014869 ENST00000323557.7:c.*1539A>G chr6.hg19:g.52964167A>G NA A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593 hg19 CCDS55022.1 0.02 5.762415 CTGxGCA COVERED NOVEL FBXO9-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040951.2 24 10.535403 KEEP 0 3 106 72 2300 AA 1 1 0 + 7 60 236 0 1 14.792047 137 60 4161 306 ENST00000323557.7 0.048611 1 ELOVL5 60481 __UNKNOWN__ __UNKNOWN__ 6 53157351 53157351 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:53157351T>G ENST00000542638.1 - 3 506 ELOVL5_ENST00000541407.1_Intron|ELOVL5_ENST00000486973.1_Intron|ELOVL5_ENST00000370918.4_Intron|ELOVL5_ENST00000304434.6_Intron Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) fatty acid elongase activity (GO:0009922) endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) cactttgggatgccaaggcgg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052129 CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1 6p21.1-p12.1 2014-07-30 2011-05-25 ENSG00000012660 ENSG00000012660 60481 21308 protein-coding gene gene with protein product 611805 ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), spinocerebellar ataxia 38 SCA38 NA 10970790, 25065913 Standard NM_021814 NM_021814 NA Approved HELO1, dJ483K16.1 uc011dwx.2 Q9NYP7 OTTHUMG00000016249 ENST00000542638.1:c.59-590A>C chr6.hg19:g.53157351T>G NA B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22 hg19 CCDS4951.1 0.02 -0.114027 GGAxGCC UNCOVERED NOVEL ELOVL5-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043566.1 5 3.912037 KEEP 0 0 0 13 421 TT 0.994391 0.161555 0 - 4 60 143 0 0 12.891682 8 60 242 38 ENST00000542638.1 0.333333 0.162467 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56410041 56410041 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:56410041G>A ENST00000361203.3 - 57 15983 DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin NA NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ggctcaagcagtcctcctgcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.15975+6940C>T chr6.hg19:g.56410041G>A NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 -0.140353 GCAxTCC COVERED NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 8 2.708912 KEEP 0 0 0 9 323 GG 0.99254 0.259018 0 - 3 60 84 0 0 6.572533 12 60 428 34 ENST00000361203.3 0.2 0.260965 KIAA1586 57691 __UNKNOWN__ __UNKNOWN__ 6 56919785 56919785 __UNKNOWN__ 3'UTR SNP G G A rs143371921 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:56919785G>A ENST00000370733.4 + 0 2695 KIAA1586_ENST00000545356.1_3'UTR NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 NA NA nucleic acid binding (GO:0003676) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTTAAAAGGCGTTCTTTAAGA 0.308 NA g||| 5 0.000998403 0.0038 0 5008 , , NA 15602 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB046806 CCDS34480.1, CCDS69138.1 6p12.1 2014-03-27 ENSG00000168116 ENSG00000168116 57691 21360 protein-coding gene gene with protein product NA 10997877 Standard NM_020931 NM_001286274 NA Approved uc003pdj.3 Q9HCI6 OTTHUMG00000014915 ENST00000370733.4:c.*124G>A chr6.hg19:g.56919785G>A NA A8K4M3|Q8IW25 hg19 CCDS34480.1 0.02 -0.254311 GGCxTTC COVERED NOVEL KIAA1586-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041033.1 2 2.239952 KEEP 0 1 24 16 535 GG 0.999366 0.6681 0 + 12 60 325 0 0 29.677368 17 60 552 67 ENST00000370733.4 0.413793 0.668523 ZNF451 26036 __UNKNOWN__ __UNKNOWN__ 6 56971379 56971379 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:56971379T>C ENST00000370706.4 + 3 430 ZNF451_ENST00000370702.1_Intron|ZNF451_ENST00000357489.3_Intron|ZNF451_ENST00000370708.4_3'UTR|ZNF451_ENST00000491832.2_Intron NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) gctgggattataggcgtgagc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011148 CCDS4960.1, CCDS43477.1, CCDS59026.1 6p12.1 2012-08-08 ENSG00000112200 ENSG00000112200 26036 Zinc fingers, C2H2-type 21091 protein-coding gene gene with protein product 615708 NA 9628581 Standard NM_015555 NM_001031623 NA Approved KIAA0576, COASTER, dJ417I1.1, KIAA1702 uc003pdm.2 Q9Y4E5 OTTHUMG00000014916 ENST00000370706.4:c.186+7440T>C chr6.hg19:g.56971379T>C NA Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1 hg19 CCDS43477.1 0.02 -0.289275 TTAxAGG COVERED NOVEL ZNF451-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041035.2 12 3.610452 KEEP 3 0 0 12 358 TT 0.992708 0.755338 0 + 4 60 137 0 0 10.692141 23 60 618 59 ENST00000370706.4 0.148148 0.760887 ZNF451 26036 __UNKNOWN__ __UNKNOWN__ 6 56971383 56971383 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:56971383C>T ENST00000370706.4 + 3 430 ZNF451_ENST00000370702.1_Intron|ZNF451_ENST00000357489.3_Intron|ZNF451_ENST00000370708.4_3'UTR|ZNF451_ENST00000491832.2_Intron NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ggattataggcgtgagccacc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011148 CCDS4960.1, CCDS43477.1, CCDS59026.1 6p12.1 2012-08-08 ENSG00000112200 ENSG00000112200 26036 Zinc fingers, C2H2-type 21091 protein-coding gene gene with protein product 615708 NA 9628581 Standard NM_015555 NM_001031623 NA Approved KIAA0576, COASTER, dJ417I1.1, KIAA1702 uc003pdm.2 Q9Y4E5 OTTHUMG00000014916 ENST00000370706.4:c.186+7444C>T chr6.hg19:g.56971383C>T NA Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1 hg19 CCDS43477.1 0.02 -0.289465 AGGxGTG COVERED NOVEL ZNF451-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041035.2 12 3.885426 KEEP 3 0 0 13 418 CC 0.993072 0.755616 0 + 4 60 111 0 0 8.093032 23 60 761 60 ENST00000370706.4 0.148148 0.760887 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57243123 57243123 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:57243123A>C ENST00000389488.2 + 6 546 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) cttggcctccaaaagtgctgg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.547-1576A>C chr6.hg19:g.57243123A>C NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.271871 TCCxAAA COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 5 2.70777 KEEP 0 0 0 9 277 AA 0.99254 0.711964 0 + 3 60 97 0 0 7.265326 20 60 591 64 ENST00000389488.2 0.130435 0.717315 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57243142 57243142 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:57243142A>G ENST00000389488.2 + 6 546 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) gggattatagacgtgagccac 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.547-1557A>G chr6.hg19:g.57243142A>G NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.263107 TAGxCGT COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 4 2.703254 KEEP 0 0 0 9 257 AA 0.99254 0.688494 0 + 3 60 102 1 0 7.892143 18 60 529 60 ENST00000389488.2 0.142857 0.693668 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57339288 57339288 __UNKNOWN__ Intron SNP T T A rs4712164 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:57339288T>A ENST00000389488.2 + 8 780 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTAAAATTTTTTTCATTTTTA 0.388 NA T||| 1105 0.220647 0.2118 0.1816 5008 , , NA 18150 0.2986 NA 0.159 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.781-33000T>A chr6.hg19:g.57339288T>A NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.149105 TTTxTTC COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 3 2.407374 KEEP 0 0 0 8 256 TT 0.99257 0.289832 0 + 4 60 117 0 0 9.581088 13 60 399 35 ENST00000389488.2 0.235294 0.292001 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57343921 57343921 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:57343921A>G ENST00000389488.2 + 8 780 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) ggcaacaagaacaaaactcca 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.781-28367A>G chr6.hg19:g.57343921A>G NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.122791 AGAxCAA COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 6 2.708343 KEEP 0 0 0 9 289 AA 0.99254 0.194847 0 + 2 60 71 0 0 6.592981 3 60 90 33 ENST00000389488.2 0.4 0.196312 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57389315 57389315 __UNKNOWN__ Intron SNP A A G rs77548954 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:57389315A>G ENST00000389488.2 + 9 848 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTATTGAACAAATGCAACCAT 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.849-3797A>G chr6.hg19:g.57389315A>G NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.210517 ACAxATG COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 7 2.407594 KEEP 0 0 0 8 263 AA 0.99257 0.518282 0 + 4 60 142 0 0 12.201569 12 60 365 44 ENST00000389488.2 0.25 0.522161 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57415761 57415761 __UNKNOWN__ Intron SNP T T C rs577446 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:57415761T>C ENST00000389488.2 + 10 1107 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) aatttttgtatttttagtaga 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.1107+17444T>C chr6.hg19:g.57415761T>C NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.201691 GTAxTTT COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 8 2.708159 KEEP 0 0 0 9 283 AT 0.992708 0.486967 0 + 3 60 102 0 0 7.765006 20 60 576 41 ENST00000389488.2 0.130435 0.490544 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57442217 57442217 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:57442217T>G ENST00000389488.2 + 11 1107 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) gggttcaagctattctcctgc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.1108-24863T>G chr6.hg19:g.57442217T>G NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.149101 AGCxATT COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 8 3.009122 KEEP 1 0 0 10 312 TT 0.992708 0.351366 0 + 3 60 100 0 0 8.382138 10 60 292 39 ENST00000389488.2 0.230769 0.353947 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57479660 57479660 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:57479660T>C ENST00000389488.2 + 12 1317 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) agctaattttttacttttttg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.1317+7219T>C chr6.hg19:g.57479660T>C NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.263109 TTTxTAC COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 12 3.009067 KEEP 0 0 0 10 316 TT 0.992708 0.68861 0 + 9 60 306 1 0 26.936797 21 60 604 55 ENST00000389488.2 0.3 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58285180 58285180 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58285180T>A NA NA LINC00680 (8503 upstream) : XXbac-BPG55C20.7 (6727 downstream) NA NA NA ttggcctccctaagtgctggg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58285180T>A NA hg19 0.02 -0.31527 CCCxAAG COVERED NOVEL 0 0 2.640926 KEEP 2 1 26 18 556 TT 0.99986 0.835599 0 3 60 92 1 0 6.312865 29 60 808 69 0.09375 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58445582 58445582 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58445582T>C NA NA XXbac-BPG55C20.7 (147086 upstream) : RP11-143A22.1 (43305 downstream) NA NA NA CTATATGACTTGAATCTCCCC 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58445582T>C NA hg19 0.02 1.487937 ACTxGAA COVERED NOVEL 0 4 12.034668 KEEP 3 0 0 40 1225 TT 1 0.999218 0 4 30 132 0 0 8.284847 73 60 2187 185 0.051948 0.999218 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777020 58777020 __UNKNOWN__ IGR SNP T T G rs4380773 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58777020T>G NA NA RP11-143A22.1 (263160 upstream) : None (None downstream) NA NA NA gaaacacccttcttgtagtag 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777020T>G NA hg19 0.02 3.684654 CCTxCTT COVERED NOVEL 0 23 14.076829 KEEP 37 1 38 60 1866 TT 1 1 0 6 60 204 0 0 12.754528 122 60 3522 335 0.046875 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777233 58777233 __UNKNOWN__ IGR SNP C C T rs4336468|rs66702815 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58777233C>T NA NA RP11-143A22.1 (263373 upstream) : None (None downstream) NA NA NA attgagcctacggcagaaaaa 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777233C>T NA hg19 0.02 4.841001 CTAxGGC COVERED NOVEL 0 31 3.345339 KEEP 0 4 125 55 1859 CC 1 1 0 17 60 504 0 0 36.506439 115 60 3731 324 0.128788 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777500 58777500 __UNKNOWN__ IGR SNP C C T rs4314523 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58777500C>T NA NA RP11-143A22.1 (263640 upstream) : None (None downstream) NA NA NA gtggaactttcctctttatag 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777500C>T NA hg19 0.02 4.039038 TTTxCTC COVERED NOVEL 0 41 12.312241 KEEP 10 5 154 95 3256 CC 1 1 0 8 60 230 0 1 12.880998 160 60 5240 422 0.047619 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777507 58777507 __UNKNOWN__ IGR SNP A A T rs9500526 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58777507A>T NA NA RP11-143A22.1 (263647 upstream) : None (None downstream) NA NA NA tttcctctttatagagcagtg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777507A>T NA hg19 0.02 3.592513 TTTxTAG COVERED NOVEL 0 43 20.062759 KEEP 11 3 95 100 3108 AA 1 1 0 7 60 193 0 0 10.080613 159 60 4550 418 0.042169 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777685 58777685 __UNKNOWN__ IGR SNP T T C rs4388320 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58777685T>C NA NA RP11-143A22.1 (263825 upstream) : None (None downstream) NA NA NA gatagagaagttttgaaaccc 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777685T>C NA hg19 0.02 3.596724 AAGxTTT COVERED NOVEL 0 17 5.204225 KEEP 0 3 114 57 1769 TT 1 1 0 5 60 176 0 0 10.640445 134 60 3915 291 0.035971 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777726 58777726 __UNKNOWN__ IGR SNP A A G rs4333444|rs59139431|rs58714856|rs59839678 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58777726A>G NA NA RP11-143A22.1 (263866 upstream) : None (None downstream) NA NA NA gtggatatttagaccactttg 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777726A>G NA hg19 0.02 3.660328 TTTxGAC COVERED NOVEL 0 14 12.070902 KEEP 0 1 37 53 1635 AA 1 0.999998 0 10 60 339 0 0 24.379856 94 60 2725 242 0.096154 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777816 58777816 __UNKNOWN__ IGR SNP G G A rs9404680 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58777816G>A NA NA RP11-143A22.1 (263956 upstream) : None (None downstream) NA NA NA tgatgtgtgcgttgaactcac 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777816G>A NA hg19 0.02 2.878049 TGCxTTG COVERED NOVEL 0 20 13.477553 KEEP 6 1 29 55 1901 GG 1 1 0 6 60 178 0 0 10.591705 103 60 3281 273 0.055046 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58778718 58778718 __UNKNOWN__ IGR SNP T T C rs9638017 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58778718T>C NA NA RP11-143A22.1 (264858 upstream) : None (None downstream) NA NA NA tttgaaacactgtttttgtag 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58778718T>C NA hg19 0.02 7.34387 CACxGTT COVERED NOVEL 0 59 7.130793 KEEP 1 6 204 95 3005 TT 1 1 0 14 60 453 1 0 30.524995 169 60 5072 438 0.076503 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58778902 58778902 __UNKNOWN__ IGR SNP T T G rs9689873 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58778902T>G NA NA RP11-143A22.1 (265042 upstream) : None (None downstream) NA NA NA ttctgaaggatctgcaagtgg 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58778902T>G NA hg19 0.02 7.503265 GGAxCTG COVERED NOVEL 0 56 10.957945 KEEP 2 7 242 121 3738 TT 1 1 0 14 60 477 0 0 32.523902 181 60 5206 474 0.071795 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58779032 58779032 __UNKNOWN__ IGR SNP T T G rs28898385 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58779032T>G NA NA RP11-143A22.1 (265172 upstream) : None (None downstream) NA NA NA ggaaccttcctttggatagag 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58779032T>G NA hg19 0.02 9.308421 TCCxTTG COVERED NOVEL 0 36 3.255004 KEEP 1 7 232 92 3015 TT 1 1 0 10 60 322 0 1 20.117579 174 60 5218 507 0.054348 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58779194 58779194 __UNKNOWN__ IGR SNP A A C rs28819762 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:58779194A>C NA NA RP11-143A22.1 (265334 upstream) : None (None downstream) NA NA NA acacggtggaacatttctctt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58779194A>C NA hg19 0.02 10.346633 GGAxCAT COVERED NOVEL 0 50 33.434589 KEEP 3 1 34 123 3907 AA 1 1 0 10 60 308 0 0 16.750638 303 60 8910 696 0.031949 1 BAI3 577 __UNKNOWN__ __UNKNOWN__ 6 69810821 69810821 __UNKNOWN__ Intron SNP G G C rs9446094 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:69810821G>C ENST00000370598.1 + 17 3301 NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) aaggaaggagggagggaggga 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB005299 CCDS4968.1 6q12 2014-08-08 ENSG00000135298 ENSG00000135298 577 -, GPCR / Class B : Orphans 945 protein-coding gene gene with protein product 602684 NA 9533023 Standard NM_001704 NA Approved KIAA0550 uc003pev.4 O60242 OTTHUMG00000014982 ENST00000370598.1:c.2480+24891G>C chr6.hg19:g.69810821G>C NA B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54 hg19 CCDS4968.1 0.02 -0.385951 GAGxGAG COVERED NOVEL BAI3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041120.1 22 2.407569 KEEP 1 0 0 8 277 GG 0.99257 0.927549 0 + 3 24 95 0 1 7.491729 14 60 467 78 ENST00000370598.1 0.176471 0.934492 LMBRD1 55788 __UNKNOWN__ __UNKNOWN__ 6 70451561 70451561 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:70451561A>G ENST00000370577.3 - 6 792 LMBRD1_ENST00000370570.1_Intron NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 NA NA cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886) cobalamin binding (GO:0031419) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 gattacaggcatgagccacca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF113224 CCDS4969.1 6q13 2011-05-12 2005-07-25 2005-07-25 ENSG00000168216 ENSG00000168216 55788 23038 protein-coding gene gene with protein product 612625 chromosome 6 open reading frame 209 C6orf209 NA 19136951 Standard NM_018368 NM_018368 NA Approved FLJ11240, bA810I22.1, cblF uc003pfa.3 Q9NUN5 OTTHUMG00000014985 ENST00000370577.3:c.562+119T>C chr6.hg19:g.70451561A>G NA A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6 hg19 CCDS4969.1 0.02 -0.306961 GGCxTGA COVERED NOVEL LMBRD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041124.1 9 3.00764 KEEP 0 0 0 10 296 AA 0.992708 0.79441 0 - 3 60 96 0 0 6.709863 29 60 856 62 ENST00000370577.3 0.09375 0.800245 COL9A1 1297 __UNKNOWN__ __UNKNOWN__ 6 70989345 70989345 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:70989345T>C ENST00000357250.6 - 10 1134 COL9A1_ENST00000320755.7_Intron|COL9A1_ENST00000370499.4_Intron|COL9A1_ENST00000489611.1_Intron NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 NA NA axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 gagcgaaacttcgtctcaaaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4971.1, CCDS47447.1 6q13 2013-05-07 ENSG00000112280 ENSG00000112280 1297 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2217 protein-coding gene gene with protein product 120210 NA 1429648 Standard NM_001851 NA Approved uc003pfg.4 P20849 OTTHUMG00000014988 ENST00000357250.6:c.975+1169A>G chr6.hg19:g.70989345T>C NA Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3 hg19 CCDS4971.1 0.02 3.099656 ACTxCGT COVERED NOVEL COL9A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041131.2 14 2.574071 KEEP 5 2 70 33 940 TT 0.999999 0.999999 0 - 7 60 224 1 0 14.767138 92 60 2469 212 ENST00000357250.6 0.070707 1 FAM135A 57579 __UNKNOWN__ __UNKNOWN__ 6 71267149 71267149 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:71267149T>C ENST00000505769.1 + 21 3489 FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000505868.1_3'UTR|FAM135A_ENST00000418814.2_Intron Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A NA NA breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 gtaatcccagtactttgggag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000183 CCDS34481.1, CCDS47448.1, CCDS55028.1 6q13 2008-10-30 2007-05-11 2007-05-11 ENSG00000082269 ENSG00000082269 57579 21084 protein-coding gene gene with protein product KIAA1411 KIAA1411 NA 10718198 Standard NM_020819 NM_001105531 NA Approved FLJ20176 uc003pfj.3 Q9P2D6 OTTHUMG00000014991 ENST00000505769.1:c.3082+583T>C chr6.hg19:g.71267149T>C NA A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5 hg19 0.02 -0.412139 CAGxACT COVERED NOVEL FAM135A-004 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000360643.1 9 3.008468 KEEP 2 0 0 10 296 TT 0.992708 0.941486 0 + 3 60 106 0 0 7.440128 36 60 1000 90 ENST00000505769.1 0.076923 0.948402 SMAP1 60682 __UNKNOWN__ __UNKNOWN__ 6 71482723 71482723 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:71482723A>T ENST00000370455.3 + 4 586 SMAP1_ENST00000422334.2_3'UTR|SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron NM_001044305.1|NM_001281440.1 NP_001037770.1|NP_001268369.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 NA NA positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 TATACCAAAAACCCCAAATGA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023221 CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1 6q12-q13 2009-11-30 2008-09-05 ENSG00000112305 ENSG00000112305 60682 ADP-ribosylation factor GTPase activating proteins 19651 protein-coding gene gene with protein product 611372 stromal membrane-associated protein 1, stromal membrane-associated GTPase-activating protein 1 NA 9644265, 12119110 Standard NM_001044305 NM_001044305 NA Approved FLJ13159, SMAP-1 uc003pfr.3 Q8IYB5 OTTHUMG00000014996 ENST00000370455.3:c.339-330A>T chr6.hg19:g.71482723A>T NA Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4 hg19 CCDS43478.1 0.02 1.494227 AAAxCCC COVERED NOVEL SMAP1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041149.1 3 9.027807 KEEP 0 0 0 30 978 AA 0.999997 0.995684 0 + 20 60 570 0 0 48.951554 46 60 1356 142 ENST00000370455.3 0.30303 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 72578368 72578368 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:72578368T>C NA NA RNU4-66P (216054 upstream) : RIMS1 (18037 downstream) NA NA NA tggtggctcatgcctgtaatc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.72578368T>C NA hg19 0.02 -0.201642 TCAxGCC COVERED NOVEL 0 7 2.706603 KEEP 0 0 0 9 257 TT 0.99254 0.486885 0 3 60 90 0 0 6.764043 17 60 475 41 0.15 0.490544 KCNQ5 56479 __UNKNOWN__ __UNKNOWN__ 6 73897072 73897072 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:73897072A>G ENST00000370398.1 + 12 1686 KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000402622.2_Intron NM_019842.3 NP_062816.2 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 NA NA protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242) breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) Ezogabine(DB04953) gtgagccaccacgcccggccT 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(142;1375 1859 14391 23261 44706) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF202977 CCDS4976.1, CCDS55034.1 6q14 2012-07-05 ENSG00000185760 ENSG00000185760 56479 Potassium channels, Voltage-gated ion channels / Potassium channels 6299 protein-coding gene gene with protein product 607357 NA 10787416, 10816588, 16382104 Standard NM_019842 NM_019842 NA Approved Kv7.5 uc011dyh.2 Q9NR82 OTTHUMG00000015020 ENST00000370398.1:c.1578-3224A>G chr6.hg19:g.73897072A>G NA A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6 hg19 CCDS4976.1 0.02 -0.359548 ACCxCGC COVERED NOVEL KCNQ5-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000041198.3 6 2.407097 KEEP 1 0 0 8 249 AA 0.99257 0.882271 0 + 3 60 105 0 0 7.272467 38 60 1081 76 ENST00000370398.1 0.073171 0.888875 OOEP 441161 __UNKNOWN__ __UNKNOWN__ 6 74079072 74079072 __UNKNOWN__ Missense_Mutation SNP G G A rs200095208 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74079072G>A ENST00000370363.1 - 3 554 c.62C>T c.(61-63)aCg>aTg p.T21M OOEP_ENST00000370359.5_Missense_Mutation_p.T76M A6NGQ2 OOEP_HUMAN oocyte expressed protein 76 NA cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468) apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234) RNA binding (GO:0003723) large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 GGCCTGGCTCGTCCACTCCAT 0.537 NA G||| 3 0.000599042 0 0 5008 , , NA 18730 0 NA 0.003 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 G MET/THR 0,3926 0,0,1963 36 35 35 NA 227 2.8 0.5 6 35 17,8237 0,17,4110 yes missense OOEP NM_001080507.2 81 0,17,6073 AA,AG,GG NA 0.206,0.0,0.1396 benign 76/150 74079072 17,12163 1963 4127 6090 SO:0001583 missense BC024931 CCDS47451.1 6q13 2012-02-22 2012-02-22 2007-11-13 ENSG00000203907 ENSG00000203907 441161 21382 protein-coding gene gene with protein product KH homology domain containing 2 611689 chromosome 6 open reading frame 156, oocyte expressed protein homolog (dog) C6orf156 NA 17913455 Standard NM_001080507 NM_001080507 NA Approved Em:AC019205.2, KHDC2 uc003pgu.4 A6NGQ2 OTTHUMG00000150057 ENST00000370363.1:c.62C>T chr6.hg19:g.74079072G>A ENSP00000359388:p.Thr21Met NA A6NIN5|A9UIB7 hg19 0.02 2.8515 CTCxTCC COVERED . . . . . . . . . . G 0.048 -1.259643 0.01445 0.0 0.00206 ENSG00000203907 ENST00000370363;ENST00000370359;ENST00000441145 T;T;T 0.10382 2.88;2.88;2.88 3.93 2.79 0.32731 . 0.269330 0.26013 N 0.026871 T 0.00496 0.0016 N 0.00263 -1.745 0.09310 N 0.999994 B;B 0.14438 0.005;0.01 B;B 0.04013 0.0;0.001 T 0.44937 -0.9295 10 0.02654 T 1 -26.0892 5.5749 0.17218 0.8721:0.0:0.1279:0.0 . 21;76 F2Z364;A6NGQ2 .;OOEP_HUMAN M 21;76;21 ENSP00000359388:T21M;ENSP00000359384:T76M;ENSP00000397430:T21M ENSP00000359384:T76M T - 2 0 OOEP 74135793 1.000000 0.71417 0.506000 0.27664 0.003000 0.03518 1.149000 0.31626 0.878000 0.35920 -0.302000 0.09304 ACG NOVEL OOEP-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000041200.1 2 13.781981 KEEP 0 0 0 46 1560 GG 1 1 0 - 26 60 705 0 0 56.010171 91 60 2915 247 ENST00000370363.1 0.222222 1 MB21D1 115004 __UNKNOWN__ __UNKNOWN__ 6 74134768 74134768 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74134768A>G ENST00000370315.3 - 0 1845 MB21D1_ENST00000370318.1_Intron NM_138441.2 NP_612450.2 Q8N884 CGAS_HUMAN Mab-21 domain containing 1 NA NA activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481) cytosol (GO:0005829) ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872) central_nervous_system(1)|large_intestine(4)|lung(1) 6 gtagagatggagtttcaccat 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC012928 CCDS4978.1 6q13 2011-02-23 2011-02-23 2011-02-23 ENSG00000164430 ENSG00000164430 115004 21367 protein-coding gene gene with protein product 613973 chromosome 6 open reading frame 150 C6orf150 NA Standard NM_138441 NM_138441 NA Approved uc003pgx.1 Q8N884 OTTHUMG00000015034 ENST00000370315.3:c.*182T>C chr6.hg19:g.74134768A>G NA L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45 hg19 CCDS4978.1 0.02 1.765875 TGGxGTT COVERED NOVEL MB21D1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041221.5 5 4.368378 KEEP 0 2 67 38 1136 AA 1 0.997163 0 - 5 60 153 1 0 10.108811 58 60 1766 115 ENST00000370315.3 0.079365 0.997163 MTO1 25821 __UNKNOWN__ __UNKNOWN__ 6 74212153 74212153 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74212153T>C ENST00000498286.1 + 0 4051 Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 NA NA mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114) mitochondrion (GO:0005739) flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 ggcgacagagtgagactgttt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132937 CCDS4979.1, CCDS34485.1, CCDS47452.1 6q14.1 2013-05-07 2013-05-07 ENSG00000135297 ENSG00000135297 25821 19261 protein-coding gene gene with protein product 614667 mitochondrial translation optimization 1 homolog (S. cerevisiae) NA 12011058, 22608499 Standard NM_012123 NM_012123 NA Approved uc003pgy.4 Q9Y2Z2 OTTHUMG00000015032 ENST00000498286.1:c.*1695T>C chr6.hg19:g.74212153T>C NA B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06 hg19 CCDS34485.1 0.02 3.482037 GAGxGAG COVERED NOVEL MTO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041213.3 23 3.142874 KEEP 1 1 36 23 682 TT 0.999909 0.999909 0 + 7 60 228 1 2 14.862893 102 60 2987 220 ENST00000498286.1 0.06422 0.999999 MTO1 25821 __UNKNOWN__ __UNKNOWN__ 6 74215458 74215458 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74215458A>G ENST00000498286.1 + 0 7356 Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 NA NA mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114) mitochondrion (GO:0005739) flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 tgtatttttaatagagacagg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132937 CCDS4979.1, CCDS34485.1, CCDS47452.1 6q14.1 2013-05-07 2013-05-07 ENSG00000135297 ENSG00000135297 25821 19261 protein-coding gene gene with protein product 614667 mitochondrial translation optimization 1 homolog (S. cerevisiae) NA 12011058, 22608499 Standard NM_012123 NM_012123 NA Approved uc003pgy.4 Q9Y2Z2 OTTHUMG00000015032 ENST00000498286.1:c.*5000A>G chr6.hg19:g.74215458A>G NA B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06 hg19 CCDS34485.1 0.02 -0.166625 TTAxTAG COVERED NOVEL MTO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041213.3 3 2.407724 KEEP 0 0 0 8 269 AA 0.99257 0.351317 0 + 3 60 97 1 0 7.533665 16 60 461 31 ENST00000498286.1 0.157895 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 74294043 74294043 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74294043A>G NA NA RP11-505P4.7 (13724 upstream) : SLC17A5 (9058 downstream) NA NA NA cagcactttgagaggccgagg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.74294043A>G NA hg19 0.02 -0.236796 TTGxGAG COVERED NOVEL 0 2 2.407451 KEEP 0 0 0 8 256 AA 0.99257 0.607857 0 4 60 119 1 0 9.195333 19 60 566 46 0.173913 0.612407 SLC17A5 26503 __UNKNOWN__ __UNKNOWN__ 6 74303588 74303588 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74303588A>G ENST00000355773.5 - 0 2968 NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 NA NA amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202) sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 aggagttcaaaaccagcctgg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ387747 CCDS4981.1 6q13 2013-07-18 2013-07-18 ENSG00000119899 ENSG00000119899 26503 Solute carriers 10933 protein-coding gene gene with protein product 604322 sialic acid storage disease, solute carrier family 17 (anion/sugar transporter), member 5 SIASD NA 10581036, 8198127 Standard NM_012434 NA Approved AST, SD, ISSD, NSD, SIALIN, SLD uc003phn.4 Q9NRA2 OTTHUMG00000015039 ENST00000355773.5:c.*1212T>C chr6.hg19:g.74303588A>G NA Q5SZ76|Q8NBR5|Q9UGH0 hg19 CCDS4981.1 0.02 5.733159 CAAxACC COVERED NOVEL SLC17A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041228.1 18 10.832384 KEEP 0 0 0 36 1138 AA 1 1 0 - 6 60 204 0 0 12.385245 141 60 4145 270 ENST00000355773.5 0.040816 1 SLC17A5 26503 __UNKNOWN__ __UNKNOWN__ 6 74339918 74339918 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74339918A>G ENST00000355773.5 - 6 1088 SLC17A5_ENST00000393019.3_Intron NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 NA NA amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202) sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 gctttgccatattggccaggc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ387747 CCDS4981.1 6q13 2013-07-18 2013-07-18 ENSG00000119899 ENSG00000119899 26503 Solute carriers 10933 protein-coding gene gene with protein product 604322 sialic acid storage disease, solute carrier family 17 (anion/sugar transporter), member 5 SIASD NA 10581036, 8198127 Standard NM_012434 NA Approved AST, SD, ISSD, NSD, SIALIN, SLD uc003phn.4 Q9NRA2 OTTHUMG00000015039 ENST00000355773.5:c.819+5186T>C chr6.hg19:g.74339918A>G NA Q5SZ76|Q8NBR5|Q9UGH0 hg19 CCDS4981.1 0.02 -0.19291 CATxTTG COVERED NOVEL SLC17A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041228.1 6 2.707681 KEEP 0 0 0 9 270 AA 0.99254 0.486885 0 - 4 60 123 0 1 9.769679 17 60 473 43 ENST00000355773.5 0.190476 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 74372998 74372998 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74372998T>C NA NA SLC17A5 (9120 upstream) : RP11-553A21.3 (30627 downstream) NA NA NA gcctgtaatctcagcactttg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.74372998T>C NA hg19 0.02 -0.438541 ATCxCAG COVERED NOVEL 0 10 4.2132 KEEP 2 0 0 14 454 TT 0.995343 0.955389 0 4 60 123 1 0 8.391888 40 60 1201 90 0.090909 0.959859 CD109 135228 __UNKNOWN__ __UNKNOWN__ 6 74415128 74415128 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74415128T>C ENST00000287097.5 + 2 359 CD109_ENST00000437994.2_Intron|CD109_ENST00000422508.2_Intron Q6YHK3 CD109_HUMAN CD109 molecule NA NA negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 cttgggaggctgaggtgagca 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF410459 CCDS4982.1, CCDS55038.1, CCDS55039.1 6q14.1 2008-02-05 2006-03-28 ENSG00000156535 ENSG00000156535 135228 CD molecules 21685 protein-coding gene gene with protein product 608859 CD109 antigen (Gov platelet alloantigens) NA 11861284, 11861285 Standard NM_133493 XM_005248659 NA Approved FLJ38569, DKFZp762L1111, CPAMD7 uc003php.3 Q6YHK3 OTTHUMG00000015040 ENST00000287097.5:c.247+7833T>C chr6.hg19:g.74415128T>C NA A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3 hg19 CCDS4982.1 0.02 -0.403466 GGCxGAG COVERED NOVEL CD109-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041230.3 8 2.407564 KEEP 0 0 0 8 261 TT 0.99257 0.927549 0 + 3 60 100 0 0 6.740277 39 60 1180 76 ENST00000287097.5 0.071429 0.934492 CD109 135228 __UNKNOWN__ __UNKNOWN__ 6 74424757 74424757 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:74424757A>G ENST00000287097.5 + 3 359 CD109_ENST00000437994.2_Intron|CD109_ENST00000422508.2_Intron Q6YHK3 CD109_HUMAN CD109 molecule NA NA negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 tgaggcgggcagatcacttga 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF410459 CCDS4982.1, CCDS55038.1, CCDS55039.1 6q14.1 2008-02-05 2006-03-28 ENSG00000156535 ENSG00000156535 135228 CD molecules 21685 protein-coding gene gene with protein product 608859 CD109 antigen (Gov platelet alloantigens) NA 11861284, 11861285 Standard NM_133493 XM_005248659 NA Approved FLJ38569, DKFZp762L1111, CPAMD7 uc003php.3 Q6YHK3 OTTHUMG00000015040 ENST00000287097.5:c.248-8217A>G chr6.hg19:g.74424757A>G NA A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3 hg19 CCDS4982.1 0.02 -0.157852 GGCxGAT COVERED NOVEL CD109-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041230.3 5 2.70818 KEEP 2 0 0 9 279 AA 0.99257 0.320408 0 + 3 60 84 0 0 6.479973 13 60 383 43 ENST00000287097.5 0.1875 0.322807 COX7A2 1347 __UNKNOWN__ __UNKNOWN__ 6 75951550 75951550 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:75951550A>C ENST00000509698.1 - 2 79 COX7A2_ENST00000370089.2_Intron|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370081.2_Intron|COX7A2_ENST00000230459.4_Intron|COX7A2_ENST00000472311.2_Intron P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) NA NA extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746) cytochrome-c oxidase activity (GO:0004129) kidney(2)|lung(1) 3 gtaatcccagatacttgggag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X15822 CCDS34486.1, CCDS34486.2 6q14.1 2011-07-04 ENSG00000112695 ENSG00000112695 1347 1.9.3.1 Mitochondrial respiratory chain complex / Complex IV 2288 protein-coding gene gene with protein product 123996 NA 1327965, 9202412 Standard NM_001865 NM_001865 NA Approved COXVIIa-L, COX7AL uc003phv.2 P14406 OTTHUMG00000015049 ENST00000509698.1:c.19-569T>G chr6.hg19:g.75951550A>C NA B2R5E1|Q3MIH5|Q5TF59|Q6FGI2 hg19 0.02 -0.228024 CAGxTAC COVERED . . . . . . . . . . A 5.211 0.224378 0.09863 . . ENSG00000112695 ENST00000377978 . . . 0.603 -1.21 0.09524 . . . . . . . . . . . 0.09310 N 1 . . . . . . . . . . 0.02654 T 1 . . . . . . . . X 41 . ENSP00000421193:Y41X Y - 3 2 COX7A2 76008270 0.010000 0.17322 0.028000 0.17463 0.027000 0.11550 -1.823000 0.01710 -1.417000 0.02017 -1.466000 0.01016 TAT NOVEL COX7A2-008 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000365879.1 3 2.40738 KEEP 0 0 0 8 253 AA 0.99257 0.578599 0 - 3 50 100 0 0 7.627045 19 60 555 35 ENST00000509698.1 0.136364 0.58293 SENP6 26054 __UNKNOWN__ __UNKNOWN__ 6 76389099 76389099 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:76389099T>G ENST00000447266.2 + 16 2553 SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370014.3_Intron|SENP6_ENST00000370010.2_Intron NM_015571.2 NP_056386.2 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 NA NA protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169) cytoplasm (GO:0005737)|nucleus (GO:0005634) SUMO-specific protease activity (GO:0016929) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) tccagcctggtcaacaaagca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43483.1, CCDS47454.1 6q13-q14.3 2008-02-05 2005-08-17 ENSG00000112701 ENSG00000112701 26054 20944 protein-coding gene gene with protein product 605003 SUMO1/sentrin specific protease 6 NA Standard NM_015571 NM_015571 NA Approved SUSP1, KIAA0797 uc003pid.4 Q9GZR1 OTTHUMG00000015060 ENST00000447266.2:c.2075+456T>G chr6.hg19:g.76389099T>G NA A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5 hg19 CCDS47454.1 0.02 1.75718 TGGxCAA COVERED NOVEL SENP6-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041272.2 6 7.220896 KEEP 1 0 0 24 734 TT 0.999909 0.997463 0 + 5 60 173 0 0 12.033631 60 60 1741 145 ENST00000447266.2 0.076923 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 79568517 79568517 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:79568517C>A NA NA RP11-173D14.3 (45497 upstream) : IRAK1BP1 (8671 downstream) NA NA NA tggggaaaagcaagagagatc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.79568517C>A NA hg19 0.02 1.473635 AAGxAAG COVERED NOVEL 0 12 5.41783 KEEP 11 0 0 18 652 CC 0.999859 0.986015 0 4 60 125 1 0 8.092457 54 60 1854 130 0.068966 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 79568583 79568583 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:79568583A>C NA NA RP11-173D14.3 (45563 upstream) : IRAK1BP1 (8605 downstream) NA NA NA ccattttgttatgtactaaga 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.79568583A>C NA hg19 0.02 -0.24551 GTTxTGT COVERED NOVEL 0 3 2.405973 KEEP 11 0 0 8 230 AA 0.99257 0.663556 0 3 40 103 0 0 7.592579 25 60 691 68 0.107143 0.668523 UBE3D 90025 __UNKNOWN__ __UNKNOWN__ 6 83607081 83607081 __UNKNOWN__ Intron SNP G G C rs550480453 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:83607081G>C ENST00000369747.3 - 10 1272 NM_198920.1 NP_944602.1 Q7Z6J8 UBE3D_HUMAN ubiquitin protein ligase E3D NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874) NA aggctgaggtgggtggatcac 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL137544 CCDS34491.1 6q15 2012-02-24 2012-02-24 2012-02-24 ENSG00000118420 ENSG00000118420 90025 21381 protein-coding gene gene with protein product UBCH10 binding protein with a hect-like domain 612495 chromosome 6 open reading frame 157, ubiquitin-conjugating enzyme E2C binding protein C6orf157, UBE2CBP NA 15749827 Standard NM_198920 NM_198920 NA Approved DKFZp434A1520, H10BH, YJR141W uc003pjp.2 Q7Z6J8 OTTHUMG00000015108 ENST00000369747.3:c.1150-4320C>G chr6.hg19:g.83607081G>C NA B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42 hg19 CCDS34491.1 0.02 -0.263142 GGTxGGT COVERED NOVEL UBE3D-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041347.7 9 2.708856 KEEP 4 0 0 9 321 GG 0.99254 0.688494 0 - 3 20 96 0 0 6.942783 24 60 794 70 ENST00000369747.3 0.111111 0.693668 UBE3D 90025 __UNKNOWN__ __UNKNOWN__ 6 83607092 83607092 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:83607092C>T ENST00000369747.3 - 10 1272 NM_198920.1 NP_944602.1 Q7Z6J8 UBE3D_HUMAN ubiquitin protein ligase E3D NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874) NA ggtggatcacctgaggtcagg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL137544 CCDS34491.1 6q15 2012-02-24 2012-02-24 2012-02-24 ENSG00000118420 ENSG00000118420 90025 21381 protein-coding gene gene with protein product UBCH10 binding protein with a hect-like domain 612495 chromosome 6 open reading frame 157, ubiquitin-conjugating enzyme E2C binding protein C6orf157, UBE2CBP NA 15749827 Standard NM_198920 NM_198920 NA Approved DKFZp434A1520, H10BH, YJR141W uc003pjp.2 Q7Z6J8 OTTHUMG00000015108 ENST00000369747.3:c.1150-4331G>A chr6.hg19:g.83607092C>T NA B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42 hg19 CCDS34491.1 0.02 -0.236863 CACxTGA COVERED NOVEL UBE3D-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041347.7 9 2.708975 KEEP 4 0 0 9 338 CC 0.99254 0.607839 0 - 4 20 125 1 0 9.713323 20 60 707 65 ENST00000369747.3 0.166667 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 83776558 83776558 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:83776558A>G NA NA UBE3D (998 upstream) : DOPEY1 (826 downstream) NA NA NA caaagtgctgagattacaggt 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.83776558A>G NA hg19 0.02 -0.289441 CTGxGAT COVERED NOVEL 0 3 4.2134 KEEP 1 0 0 14 465 AA 0.995343 0.757343 0 4 60 131 0 0 10.022999 24 60 718 73 0.142857 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 86001321 86001321 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:86001321T>G NA NA TBX18 (527084 upstream) : RP11-30P6.6 (95615 downstream) NA NA NA TGGACAATGTTGAATGAATGT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.86001321T>G NA hg19 0.02 -0.263094 TGTxGAA COVERED NOVEL 0 0 3.608636 KEEP 0 0 0 12 359 TT 0.993634 0.689252 0 9 60 299 0 0 26.237085 21 60 600 52 0.3 0.693668 SNX14 57231 __UNKNOWN__ __UNKNOWN__ 6 86280875 86280875 __UNKNOWN__ Intron SNP G G A rs9342041 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:86280875G>A ENST00000314673.3 - 4 594 SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_Intron|RP11-321N4.5_ENST00000503906.1_Intron|SNX14_ENST00000346348.3_Intron|SNX14_ENST00000505648.1_Intron|SNX14_ENST00000369627.2_Intron NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 NA NA protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032) integral component of membrane (GO:0016021) phosphatidylinositol binding (GO:0035091) NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) tcaagaccacgtcctggctaa 0.552 NA A||| 2976 0.594249 0.6596 0.7089 5008 , , NA 15366 0.369 NA 0.6342 False NA ,,, NA NA NA 2504 0.6155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF121863 CCDS5003.1, CCDS5004.1, CCDS75490.1 6q15 2008-10-22 ENSG00000135317 ENSG00000135317 57231 Sorting nexins 14977 protein-coding gene gene with protein product NA 11485546, 11736640 Standard NM_153816 XM_005248738 NA Approved RGS-PX2 uc003pkr.3 Q9Y5W7 OTTHUMG00000015140 ENST00000314673.3:c.417+979C>T chr6.hg19:g.86280875G>A NA B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1 hg19 CCDS5004.1 0.02 -0.087683 CACxTCC UNCOVERED NOVEL SNX14-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041393.2 3 2.407702 KEEP 2 0 0 8 275 GG 0 0 0 - 4 60 120 0 0 10.986166 6 60 188 25 ENST00000314673.3 0.4 0.099721 SYNCRIP 10492 __UNKNOWN__ __UNKNOWN__ 6 86342709 86342709 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:86342709A>G ENST00000369622.3 - 6 1167 SYNCRIP_ENST00000355238.6_Intron NM_001159675.1|NM_006372.4 NP_001153147.1|NP_006363.4 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein NA NA cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032) catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) ggtggctcacacctgtaatcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF037448 CCDS5005.1, CCDS55041.1, CCDS75491.1 6q14-q15 2013-05-23 ENSG00000135316 ENSG00000135316 10492 RNA binding motif (RRM) containing 16918 protein-coding gene gene with protein product heterogeneous nuclear ribonucleoprotein Q NA 9847309, 11352648 Standard NM_006372 NM_006372 NA Approved NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ uc003pla.2 O60506 OTTHUMG00000015141 ENST00000369622.3:c.666+3975T>C chr6.hg19:g.86342709A>G NA E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583 hg19 CCDS5005.1 0.02 -0.219252 CACxCCT COVERED NOVEL SYNCRIP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041396.1 6 2.406952 KEEP 1 0 0 8 243 AA 0.99257 0.54878 0 - 3 60 105 0 0 8.005423 21 60 618 49 ENST00000369622.3 0.125 0.552887 ZNF292 23036 __UNKNOWN__ __UNKNOWN__ 6 87869448 87869448 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:87869448T>C ENST00000392985.3 + 3 405 ZNF292_ENST00000369577.3_Intron|ZNF292_ENST00000339907.4_Intron|ZNF292_ENST00000369578.2_Intron O60281 ZN292_HUMAN zinc finger protein 292 NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ccgcccctcttggcctcccaa 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011102 CCDS47457.1 6q15 2008-10-23 ENSG00000188994 ENSG00000188994 23036 Zinc fingers, C2H2-type 18410 protein-coding gene gene with protein product NA 9628581 Standard NM_015021 NM_015021 NA Approved KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16 uc003plm.4 O60281 OTTHUMG00000015164 ENST00000392985.3:c.168+3971T>C chr6.hg19:g.87869448T>C NA Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4 hg19 0.02 -0.227525 TCTxGGC COVERED NOVEL ZNF292-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000376202.1 3 3.309735 KEEP 0 0 0 11 333 TT 0.993072 0.578892 0 + 4 60 109 1 0 8.149254 20 60 556 48 ENST00000392985.3 0.166667 0.58293 C6orf165 154313 __UNKNOWN__ __UNKNOWN__ 6 88138720 88138720 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:88138720G>A ENST00000507897.1 + 9 1242 C6ORF165_ENST00000369562.4_Intron Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 NA NA NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) gcactttggggggccgaggcg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035083 CCDS34498.1 6q15 2012-02-07 ENSG00000213204 ENSG00000213204 154313 21405 protein-coding gene gene with protein product NA Standard NM_178823 NM_001031743 NA Approved FLJ25974, dJ382I10.1 uc003plv.3 Q8IYR0 OTTHUMG00000015173 ENST00000507897.1:c.1159+178G>A chr6.hg19:g.88138720G>A NA A8K969|E1P507|Q8N9U4 hg19 CCDS34498.1 0.02 -0.280698 GGGxGGC COVERED NOVEL C6orf165-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000470406.1 6 3.912549 KEEP 1 0 0 13 448 GG 0.994391 0.735522 0 + 4 60 116 0 0 8.334546 27 60 898 68 ENST00000507897.1 0.129032 0.739671 RARS2 57038 __UNKNOWN__ __UNKNOWN__ 6 88258811 88258811 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:88258811T>G ENST00000369536.5 - 6 441 NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial NA NA arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrial matrix (GO:0005759) arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ggtggctcactcctgtaatcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093934 CCDS5011.1 6q16.1 2011-07-01 2007-09-27 2007-02-23 ENSG00000146282 ENSG00000146282 57038 6.1.1.19 Aminoacyl tRNA synthetases / Class I 21406 protein-coding gene gene with protein product arginine tRNA ligase 2, mitochondrial (putative) 611524 arginyl-tRNA synthetase-like RARSL NA 17847012 Standard NM_020320 NM_020320 NA Approved MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2 uc003pme.3 Q5T160 OTTHUMG00000015178 ENST00000369536.5:c.396-447A>C chr6.hg19:g.88258811T>G NA B2RDT7|Q96FU5|Q9H8K8 hg19 CCDS5011.1 0.02 -0.219275 CACxCCT COVERED NOVEL RARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041448.1 10 2.407483 KEEP 1 0 0 8 257 TT 0.99257 0.636582 0 - 3 60 96 0 0 7.165274 20 60 608 52 ENST00000369536.5 0.130435 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 88414210 88414210 __UNKNOWN__ IGR SNP G G C rs6940486 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:88414210G>C NA NA AKIRIN2 (2283 upstream) : snoU13 (16422 downstream) NA NA NA atcacttgaggccaggagttt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.88414210G>C NA hg19 0.02 -0.175455 GAGxCCA COVERED NOVEL 0 7 2.40685 KEEP 0 0 0 8 278 GG 0.99257 0.420331 0 3 60 104 1 0 8.232885 16 60 547 42 0.157895 0.423478 RNGTT 8732 __UNKNOWN__ __UNKNOWN__ 6 89511242 89511242 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:89511242A>C ENST00000369485.4 - 12 1525 RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000265607.6_Intron|RNGTT_ENST00000369475.3_Intron NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase NA NA 7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) nucleoplasm (GO:0005654)|nucleus (GO:0005634) GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355) endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) cacacacacaaacacacaaac 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 63 54 57 NA NA NA 6 NA NA 89511242 2202 4300 6502 SO:0001627 intron_variant AF025654 CCDS5017.1 6q16 2011-06-09 ENSG00000111880 ENSG00000111880 8732 2.7.7.50 Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases 10073 protein-coding gene gene with protein product 603512 NA 9828141, 9512541 Standard NM_001286428 NA Approved HCE, HCE1, hCAP uc003pmr.2 O60942 OTTHUMG00000015190 ENST00000369485.4:c.1338+40T>G chr6.hg19:g.89511242A>C NA E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8 hg19 CCDS5017.1 0.02 3.765539 ACAxACA COVERED NOVEL RNGTT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041469.1 24 3.464334 KEEP 0 5 182 75 2350 AA 1 0.999981 0 - 5 60 167 1 0 10.494374 94 60 2795 251 ENST00000369485.4 0.050505 0.999981 SRSF12 135295 __UNKNOWN__ __UNKNOWN__ 6 89806485 89806485 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:89806485A>G ENST00000452027.2 - 0 2791 NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 NA NA cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244) nucleoplasm (GO:0005654) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 ccaaagtgctaggattactgg 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF449428 CCDS47459.1 6q16.1 2013-02-12 2010-06-22 2010-06-22 ENSG00000154548 ENSG00000154548 135295 Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing 21220 protein-coding gene gene with protein product splicing factor, arginine/serine-rich 19, SR splicing factor 12 splicing factor, arginine/serine-rich 13B SFRS13B NA 11684676, 20516191 Standard NM_080743 NM_080743 NA Approved SRrp35, SFRS19 uc021zcq.1 Q8WXF0 OTTHUMG00000015192 ENST00000452027.2:c.*1812T>C chr6.hg19:g.89806485A>G NA B2RA22|Q5T7K0|Q8WW25 hg19 CCDS47459.1 0.02 -0.192926 GCTxGGA COVERED NOVEL SRSF12-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041474.2 7 2.708183 KEEP 1 0 0 9 280 AA 0.99254 0.454342 0 - 3 60 95 0 0 7.410661 15 60 435 36 ENST00000452027.2 0.166667 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 89828293 89828293 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:89828293T>C NA NA SRSF12 (493 upstream) : PM20D2 (27475 downstream) NA NA NA gcctcggccttccaaagtgct 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.89828293T>C NA hg19 0.02 -0.298202 CCTxCCA COVERED NOVEL 0 7 3.008821 KEEP 0 0 0 10 306 TT 0.992708 0.775364 0 3 60 99 0 0 7.349281 22 60 657 60 0.12 0.78106 RRAGD 58528 __UNKNOWN__ __UNKNOWN__ 6 90076166 90076166 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:90076166C>A ENST00000369415.4 - 0 3088 RRAGD_ENST00000359203.3_3'UTR NM_021244.4 NP_067067.1 Ras-related GTP binding D NA NA breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) tggaaggatcccttgagccca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF272036 CCDS5022.1 6q15-q16 2008-02-05 ENSG00000025039 ENSG00000025039 58528 19903 protein-coding gene gene with protein product 608268 NA 11073942 Standard NM_021244 NM_021244 NA Approved DKFZP761H171, bA11D8.2.1 uc003pnd.4 Q9NQL2 OTTHUMG00000015200 ENST00000369415.4:c.*1609G>T chr6.hg19:g.90076166C>A NA hg19 CCDS5022.1 0.02 -0.377166 ATCxCTT COVERED NOVEL RRAGD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041484.1 5 3.608864 KEEP 0 0 0 12 404 CC 0.993634 0.903281 0 - 4 60 117 0 0 7.96619 36 60 1162 59 ENST00000369415.4 0.1 0.909069 LYRM2 57226 __UNKNOWN__ __UNKNOWN__ 6 90344228 90344228 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:90344228T>C ENST00000520441.1 - 2 221 LYRM2_ENST00000523377.1_3'UTR Q9NU23 LYRM2_HUMAN LYR motif containing 2 NA NA mitochondrion (GO:0005739) kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) agtttgagactagcctggcaa 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC009782 CCDS5023.1 6q15 2006-09-19 ENSG00000083099 ENSG00000083099 57226 LYR motif containing 25229 protein-coding gene gene with protein product NA 12477932 Standard NM_020466 NM_020466 NA Approved DJ122O8.2 uc003pnm.3 Q9NU23 OTTHUMG00000015203 ENST00000520441.1:c.203+3215A>G chr6.hg19:g.90344228T>C NA B2R4U2|E1P517 hg19 0.02 -0.254109 GACxAGC COVERED NOVEL LYRM2-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375696.1 3 4.212541 KEEP 0 0 0 14 433 TT 0.995343 0.66541 0 - 4 60 115 0 0 8.44059 24 60 641 47 ENST00000520441.1 0.142857 0.668523 LYRM2 57226 __UNKNOWN__ __UNKNOWN__ 6 90346487 90346487 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:90346487T>C ENST00000520441.1 - 2 221 LYRM2_ENST00000523377.1_3'UTR|LYRM2_ENST00000517396.1_5'UTR Q9NU23 LYRM2_HUMAN LYR motif containing 2 NA NA mitochondrion (GO:0005739) kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) caacctccacttcctgggttc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC009782 CCDS5023.1 6q15 2006-09-19 ENSG00000083099 ENSG00000083099 57226 LYR motif containing 25229 protein-coding gene gene with protein product NA 12477932 Standard NM_020466 NM_020466 NA Approved DJ122O8.2 uc003pnm.3 Q9NU23 OTTHUMG00000015203 ENST00000520441.1:c.203+956A>G chr6.hg19:g.90346487T>C NA B2R4U2|E1P517 hg19 0.02 1.652117 CACxTCC COVERED NOVEL LYRM2-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375696.1 4 10.235158 KEEP 0 3 100 69 2198 TT 1 0.999559 0 - 6 60 182 0 0 11.923116 71 60 2125 161 ENST00000520441.1 0.077922 0.999559 LYRM2 57226 __UNKNOWN__ __UNKNOWN__ 6 90347767 90347767 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:90347767G>T ENST00000520441.1 - 2 63 LYRM2_ENST00000523377.1_Intron|LYRM2_ENST00000517396.1_Intron|LYRM2_ENST00000520318.1_Intron Q9NU23 LYRM2_HUMAN LYR motif containing 2 NA NA mitochondrion (GO:0005739) kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) cagtggctcaggcctgtaatc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC009782 CCDS5023.1 6q15 2006-09-19 ENSG00000083099 ENSG00000083099 57226 LYR motif containing 25229 protein-coding gene gene with protein product NA 12477932 Standard NM_020466 NM_020466 NA Approved DJ122O8.2 uc003pnm.3 Q9NU23 OTTHUMG00000015203 ENST00000520441.1:c.46-166C>A chr6.hg19:g.90347767G>T NA B2R4U2|E1P517 hg19 0.02 -0.219296 TCAxGCC COVERED NOVEL LYRM2-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375696.1 2 4.349213 KEEP 0 1 33 26 892 GG 0.999997 0.582928 0 - 3 60 94 0 0 6.905863 21 60 689 68 ENST00000520441.1 0.125 0.58293 MDN1 23195 __UNKNOWN__ __UNKNOWN__ 6 90467911 90467911 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:90467911A>G ENST00000369393.3 - 19 2818 MDN1_ENST00000428876.1_Intron Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) NA NA ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ctgcactccaacctgggcaac 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF503925 CCDS5024.1 6q15 2014-01-28 ENSG00000112159 ENSG00000112159 23195 18302 protein-coding gene gene with protein product NA 9205841, 12102729 Standard XM_005248699 NA Approved KIAA0301 uc003pnn.1 Q9NU22 OTTHUMG00000015213 ENST00000369393.3:c.2702+62T>C chr6.hg19:g.90467911A>G NA O15019|Q5T794 hg19 CCDS5024.1 0.02 1.988329 CCAxCCT COVERED NOVEL MDN1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041514.2 8 3.245548 KEEP 0 1 38 24 761 AA 0.999931 0.981888 0 - 4 60 139 0 0 9.721718 47 60 1391 103 ENST00000369393.3 0.078431 0.981955 BACH2 60468 __UNKNOWN__ __UNKNOWN__ 6 90691821 90691821 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:90691821T>C ENST00000257749.4 - 6 951 BACH2_ENST00000537989.1_Intron|BACH2_ENST00000343122.3_Intron NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) tcccaaagtgttgggattaca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL121787 CCDS5026.1 6q15 2013-01-10 ENSG00000112182 ENSG00000112182 60468 BTB/POZ domain containing, basic leucine zipper proteins 14078 protein-coding gene gene with protein product 605394 NA 10949928, 12829606 Standard NM_021813 NM_001170794 NA Approved BTBD25 uc003pnw.3 Q9BYV9 OTTHUMG00000015216 ENST00000257749.4:c.243+26499A>G chr6.hg19:g.90691821T>C NA E1P518|Q59H70|Q5T793|Q9NTS5 hg19 CCDS5026.1 0.02 -0.175431 GTGxTGG UNCOVERED NOVEL BACH2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041522.2 12 2.407048 KEEP 3 0 0 8 243 TT 0 0 0 - 3 60 102 0 0 8.581939 10 60 306 39 ENST00000257749.4 0.230769 0.387407 BACH2 60468 __UNKNOWN__ __UNKNOWN__ 6 90718594 90718594 __UNKNOWN__ Intron SNP C C G rs143731702|rs189901289 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:90718594C>G ENST00000257749.4 - 6 696 BACH2_ENST00000537989.1_Intron|BACH2_ENST00000343122.3_Intron NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) aagaaagaaacaaagaaagaa 0.483 NA C||| 19 0.00379393 0.0091 0.0014 5008 , , NA 20783 0.001 NA 0.004 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 55 56 55 NA NA NA 6 NA NA 90718594 2203 4300 6503 SO:0001627 intron_variant AL121787 CCDS5026.1 6q15 2013-01-10 ENSG00000112182 ENSG00000112182 60468 BTB/POZ domain containing, basic leucine zipper proteins 14078 protein-coding gene gene with protein product 605394 NA 10949928, 12829606 Standard NM_021813 NM_001170794 NA Approved BTBD25 uc003pnw.3 Q9BYV9 OTTHUMG00000015216 ENST00000257749.4:c.12-19G>C chr6.hg19:g.90718594C>G NA E1P518|Q59H70|Q5T793|Q9NTS5 hg19 CCDS5026.1 0.02 3.297527 AAAxAAA COVERED NOVEL BACH2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041522.2 9 15.69462 KEEP 0 5 171 112 3954 CC 1 1 0 - 6 60 206 1 0 12.637625 138 60 4712 378 ENST00000257749.4 0.041667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 92427002 92427002 __UNKNOWN__ IGR SNP G G A rs562839322|rs148510184 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:92427002G>A NA NA CASC6 (26856 upstream) : RN7SL415P (22324 downstream) NA NA NA aaagaaagaaggaaagaaaga 0.358 NA A||| 217 0.0433307 0.1225 0.072 5008 , , NA 20088 0.003 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.92427002G>A NA hg19 0.02 -0.166681 GAAxGAA COVERED NOVEL 0 3 2.708957 KEEP 0 0 0 9 333 GG 0.99254 0.351306 0 4 60 128 0 0 10.462263 15 60 525 36 0.210526 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 99670774 99670774 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:99670774C>G NA NA MIR548AI (98202 upstream) : FAXC (48270 downstream) NA NA NA acccaggctgcagtgcagtgg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.99670774C>G NA hg19 0.02 -0.114042 CTGxAGT UNCOVERED NOVEL 0 5 2.345693 KEEP 1 0 0 8 256 CC 0.99257 0.16126 0 4 60 127 0 0 11.476795 7 60 247 29 0.363636 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 99842237 99842237 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:99842237T>C NA NA COQ3 (157 upstream) : PNISR (3689 downstream) NA NA NA atcactgcaatctccgccgcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.99842237T>C NA hg19 0.02 1.488124 CAAxCTC COVERED NOVEL 0 4 16.82785 KEEP 0 0 0 56 1626 TT 1 0.999317 0 4 60 132 0 0 8.308532 72 60 2039 145 0.052632 0.999317 HACE1 57531 __UNKNOWN__ __UNKNOWN__ 6 105306315 105306315 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:105306315T>C ENST00000262903.4 - 1 353 HACE1_ENST00000369125.2_Intron NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 NA NA cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634) ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) gtggctcacatctgtaatccc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034982 CCDS5050.1 6q21 2013-01-10 2012-02-23 ENSG00000085382 ENSG00000085382 57531 Ankyrin repeat domain containing 21033 protein-coding gene gene with protein product 610876 NA 10718198 Standard XM_045095 NM_020771 NA Approved KIAA1320 uc003pqu.1 Q8IYU2 OTTHUMG00000015287 ENST00000262903.4:c.76+1126A>G chr6.hg19:g.105306315T>C NA A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6 hg19 CCDS5050.1 0.02 2.014707 ACAxCTG COVERED NOVEL HACE1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041643.2 3 12.034124 KEEP 0 0 0 40 1185 TT 1 0.973965 0 - 6 60 180 0 0 12.847828 45 60 1284 105 ENST00000262903.4 0.117647 0.973965 HACE1 57531 __UNKNOWN__ __UNKNOWN__ 6 105306387 105306387 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:105306387G>C ENST00000262903.4 - 1 353 HACE1_ENST00000369125.2_Intron NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 NA NA cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634) ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) ccagcctggggaacatagtga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034982 CCDS5050.1 6q21 2013-01-10 2012-02-23 ENSG00000085382 ENSG00000085382 57531 Ankyrin repeat domain containing 21033 protein-coding gene gene with protein product 610876 NA 10718198 Standard XM_045095 NM_020771 NA Approved KIAA1320 uc003pqu.1 Q8IYU2 OTTHUMG00000015287 ENST00000262903.4:c.76+1054C>G chr6.hg19:g.105306387G>C NA A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6 hg19 CCDS5050.1 0.02 3.640214 GGGxAAC COVERED NOVEL HACE1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041643.2 29 30.230145 KEEP 0 3 107 138 4758 GG 1 1 0 - 5 60 175 1 0 10.687788 125 60 4121 388 ENST00000262903.4 0.038462 1 AIM1 202 __UNKNOWN__ __UNKNOWN__ 6 107017361 107017361 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:107017361A>G ENST00000369066.3 + 0 6579 NM_001624.2 NP_001615 Q9UMX9 S45A2_HUMAN absent in melanoma 1 NA NA developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601) integral component of membrane (GO:0016021) breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) gcctcccaaaatgctgggatt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U83115 CCDS34506.1 6q21 2014-01-29 ENSG00000112297 ENSG00000112297 202 356 protein-coding gene gene with protein product suppression of tumorigenicity 4, beta-gamma crystallin domain containing 1 601797 suppression of tumorigenicity 4 (malignant melanoma) ST4 NA 1680551, 12693952 Standard NM_001624 NA Approved CRYBG1 uc003prh.3 Q9Y4K1 OTTHUMG00000015302 ENST00000369066.3:c.*920A>G chr6.hg19:g.107017361A>G NA Q6P2P0|Q9BTM3 hg19 CCDS34506.1 0.02 1.769253 AAAxTGC COVERED NOVEL AIM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041669.1 4 6.920545 KEEP 0 0 0 23 724 AA 0.999892 0.99938 0 + 5 60 152 0 0 9.678527 68 60 1924 130 ENST00000369066.3 0.068493 0.999487 QRSL1 55278 __UNKNOWN__ __UNKNOWN__ 6 107090393 107090393 __UNKNOWN__ Intron SNP C C G rs9400039 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:107090393C>G ENST00000369046.4 + 4 387 QRSL1_ENST00000369044.1_Intron NM_018292.4 NP_060762.3 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 NA NA endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) AGGCCTTTTACAAAACAGGGA 0.438 NA G||| 2161 0.43151 0.5023 0.4841 5008 , , NA 20184 0.2302 NA 0.5537 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NSCLC(192;2127 2142 11668 26277 49545) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001851 CCDS5057.1 6q21 2014-08-04 ENSG00000130348 ENSG00000130348 55278 21020 protein-coding gene gene with protein product glutamyl-tRNA(Gln) amidotransferase, subunit A NA 11230166, 19805282 Standard NM_018292 NM_018292 NA Approved GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447 uc003prm.3 Q9H0R6 OTTHUMG00000015301 ENST00000369046.4:c.284-476C>G chr6.hg19:g.107090393C>G NA hg19 CCDS5057.1 0.02 2.015539 TTAxAAA COVERED NOVEL QRSL1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041667.1 1 7.223445 KEEP 0 0 0 24 846 CC 0.999909 0.973877 0 + 5 60 163 0 0 11.459384 49 60 1636 111 ENST00000369046.4 0.092593 0.973965 PDSS2 57107 __UNKNOWN__ __UNKNOWN__ 6 107610169 107610169 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:107610169A>G ENST00000369037.4 - 3 709 PDSS2_ENST00000453874.2_Intron|PDSS2_ENST00000369031.4_Intron NM_020381.3 NP_065114.3 Q86YH6 DLP1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 2 NA NA isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744) cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759) protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3) 19 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) tcaccatgttagccaggctgg 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF254956 CCDS5059.1 6q21 2006-02-14 2006-02-14 2006-02-14 ENSG00000164494 ENSG00000164494 57107 23041 protein-coding gene gene with protein product 610564 chromosome 6 open reading frame 210 C6orf210 NA 16262699 Standard NM_020381 NM_020381 NA Approved bA59I9.3 uc003prt.2 Q86YH6 OTTHUMG00000059359 ENST00000369037.4:c.432-14738T>C chr6.hg19:g.107610169A>G NA Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58 hg19 CCDS5059.1 0.02 -0.09647 GTTxGCC UNCOVERED NOVEL PDSS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131954.1 2 2.406863 KEEP 0 0 0 8 239 AA 0.99257 0.119541 0 - 3 60 88 0 0 7.432448 8 60 234 23 ENST00000369037.4 0.272727 0.120436 SEC63 11231 __UNKNOWN__ __UNKNOWN__ 6 108189520 108189520 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:108189520T>C ENST00000369002.4 - 0 5850 NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) NA NA liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) cagtggctcatgcctgtaatg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC048287 CCDS5061.1 6q21 2011-09-05 2006-09-12 ENSG00000025796 ENSG00000025796 11231 Heat shock proteins / DNAJ (HSP40) 21082 protein-coding gene gene with protein product 608648 SEC63-like (S. cerevisiae) NA 10219736, 10543453 Standard NM_007214 NM_007214 NA Approved SEC63L, PRO2507, ERdj2, DNAJC23 uc003psc.4 Q9UGP8 OTTHUMG00000015316 ENST00000369002.4:c.*3388A>G chr6.hg19:g.108189520T>C NA O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0 hg19 CCDS5061.1 0.02 -0.288957 TCAxGCC COVERED NOVEL SEC63-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041705.4 3 3.009141 KEEP 0 0 0 10 313 TT 0.992708 0.755338 0 - 3 60 100 0 0 7.246941 26 60 733 55 ENST00000369002.4 0.103448 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 108319805 108319805 __UNKNOWN__ IGR SNP G G A rs147602559 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:108319805G>A NA NA SNORA73 (12822 upstream) : RP1-111B22.3 (31647 downstream) NA NA NA agtggctcacgcctgtaatcc 0.443 NA G||| 63 0.0125799 0.0454 0.0043 5008 , , NA 18006 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.108319805G>A NA hg19 0.02 -0.219302 CACxCCT COVERED NOVEL 0 6 2.708879 KEEP 1 0 0 9 322 GG 0.99254 0.548763 0 3 60 89 0 0 6.465759 20 60 666 55 0.130435 0.552887 OSTM1 28962 __UNKNOWN__ __UNKNOWN__ 6 108385550 108385550 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:108385550C>G ENST00000193322.3 - 2 488 NM_014028.3 NP_054747.2 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 NA NA ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) TATTTTCAGACTTTGCAAACA 0.294 NA OREG0003974 type=REGULATORY REGION|Gene=OSTM1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(162;1427 1909 3096 17430 21396) NA 0 26 26 26 NA NA NA 6 NA NA 108385550 2196 4296 6492 SO:0001627 intron_variant AF533891 CCDS5062.1 6q21 2014-06-17 ENSG00000081087 ENSG00000081087 28962 21652 protein-coding gene gene with protein product CLCN7 accessory beta subunit 607649 NA 12627228, 21527911 Standard NM_014028 NM_014028 NA Approved HSPC019, GL uc003psd.3 Q86WC4 OTTHUMG00000015317 ENST00000193322.3:c.403-47G>C chr6.hg19:g.108385550C>G 1411 E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9 hg19 CCDS5062.1 0.02 1.970678 AGAxTTT COVERED NOVEL OSTM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041709.3 1 15.349465 KEEP 0 0 0 51 1841 CC 1 0.986153 0 - 19 60 632 0 0 56.163873 40 60 1379 139 ENST00000193322.3 0.322034 0.986153 PPIL6 285755 __UNKNOWN__ __UNKNOWN__ 6 109726146 109726146 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:109726146G>A ENST00000521072.2 - 7 1269 PPIL6_ENST00000440797.2_Intron|PPIL6_ENST00000424445.2_Intron NM_173672.4 NP_775943.1 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase (cyclophilin)-like 6 NA NA protein folding (GO:0006457) peptidyl-prolyl cis-trans isomerase activity (GO:0003755) large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) aatcccagctgctcaggaggc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1 6q21 2009-11-18 ENSG00000185250 ENSG00000185250 285755 21557 protein-coding gene gene with protein product radial spoke 12 homolog (Chlamydomonas) NA Standard NM_173672 NA Approved bA425D10.6, MGC41939, dJ919F19.1, RSPH12 uc010kdp.3 Q8IXY8 OTTHUMG00000036593 ENST00000521072.2:c.689-4773C>T chr6.hg19:g.109726146G>A NA A9NIU0|A9NIU9|E7EX15 hg19 CCDS5074.1 0.02 -0.114024 GCTxCTC UNCOVERED NOVEL PPIL6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089003.4 6 3.008836 KEEP 1 0 0 10 345 GG 0.99254 0.161255 0 - 3 60 80 0 0 6.500965 9 60 300 25 ENST00000521072.2 0.25 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 110360339 110360339 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:110360339A>G NA NA GPR6 (58418 upstream) : WASF1 (60682 downstream) NA NA NA gaccagcctgagcaacatggt 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.110360339A>G NA hg19 0.02 -0.192641 CTGxGCA COVERED NOVEL 0 5 2.708513 KEEP 1 0 0 9 293 AA 0.99254 0.454342 0 3 60 106 0 0 8.513113 15 60 427 45 0.166667 0.457757 CDC40 51362 __UNKNOWN__ __UNKNOWN__ 6 110552651 110552651 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:110552651T>C ENST00000368932.1 + 0 3158 CDC40_ENST00000368930.1_Intron|CDC40_ENST00000445340.2_Intron|CDC40_ENST00000307731.1_3'UTR O60508 PRP17_HUMAN cell division cycle 40 NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) tgcagtgagctgagatcatgc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF015044 CCDS5081.1 6q22.1 2013-01-17 2013-01-17 ENSG00000168438 ENSG00000168438 51362 WD repeat domain containing 17350 protein-coding gene gene with protein product 605585 cell division cycle 40 homolog (yeast), cell division cycle 40 homolog (S. cerevisiae) NA 9769104, 9830021 Standard NM_015891 NM_015891 NA Approved PRP17, EHB3, PRPF17, FLJ10564 uc003pua.3 O60508 OTTHUMG00000015358 ENST00000368932.1:c.*1317T>C chr6.hg19:g.110552651T>C NA B2RBC5|O75471|Q5SRN0|Q9UPG1 hg19 CCDS5081.1 0.02 1.608059 AGCxGAG COVERED NOVEL CDC40-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041791.1 14 9.96263 KEEP 2 1 22 41 1266 TT 1 0.999835 0 + 8 60 232 1 0 15.69358 73 60 2145 162 ENST00000368932.1 0.098765 0.999835 DDO 8528 __UNKNOWN__ __UNKNOWN__ 6 110723607 110723607 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:110723607T>C ENST00000368924.3 - 4 558 DDO_ENST00000368923.3_Intron NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase NA NA aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114) peroxisome (GO:0005777) cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) gtggctcatgtctgtaatccc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D89858 CCDS5082.1, CCDS5083.1 6q22.1 2008-02-05 ENSG00000203797 ENSG00000203797 8528 1.4.3.1 2727 protein-coding gene gene with protein product 124450 NA 9163533 Standard NM_003649 NA Approved uc003puc.3 Q99489 OTTHUMG00000015360 ENST00000368924.3:c.542+2369A>G chr6.hg19:g.110723607T>C NA A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552 hg19 CCDS5082.1 0.02 -0.201701 ATGxCTG COVERED NOVEL DDO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041796.1 5 3.009091 KEEP 1 0 0 10 311 TT 0.992708 0.486967 0 - 3 60 102 0 0 8.03345 16 60 458 44 ENST00000368924.3 0.157895 0.490544 SLC22A16 85413 __UNKNOWN__ __UNKNOWN__ 6 110757636 110757636 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:110757636A>T ENST00000368919.3 - 6 1378 SLC22A16_ENST00000439654.1_Intron|SLC22A16_ENST00000330550.4_Intron NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 NA NA acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101) breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) Doxorubicin(DB00997)|L-Carnitine(DB00583) tagaccagccagggcaacata 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5084.1 6q21 2013-05-22 2008-01-11 ENSG00000004809 ENSG00000004809 85413 Solute carriers 20302 protein-coding gene gene with protein product 608276 solute carrier family 22 (organic cation transporter), member 16 NA 12372408, 12089149, 17473959 Standard NM_033125 NM_033125 NA Approved FLIPT2, CT2, OKB1, OAT6 uc003puf.3 Q86VW1 OTTHUMG00000016171 ENST00000368919.3:c.1312-472T>A chr6.hg19:g.110757636A>T NA O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0 hg19 CCDS5084.1 0.02 -0.140334 GCCxGGG COVERED NOVEL SLC22A16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043428.1 12 2.407339 KEEP 0 0 0 8 254 AA 0.99257 0.259026 0 - 3 60 87 0 0 6.973056 11 60 333 28 ENST00000368919.3 0.214286 0.260965 LAMA4 3910 __UNKNOWN__ __UNKNOWN__ 6 112561013 112561013 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:112561013T>C ENST00000431543.2 - 2 450 RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|LAMA4_ENST00000522006.1_Intron|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|LAMA4_ENST00000389463.4_Intron|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|LAMA4_ENST00000230538.7_Intron|RP11-506B6.6_ENST00000590673.1_RNA Q16363 LAMA4_HUMAN laminin, alpha 4 NA NA blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) gcctgtaatctcagcactttg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910 Laminins 6484 protein-coding gene gene with protein product 600133 NA 7959779 Standard NM_001105206 NM_001105206 NA Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000431543.2:c.195+14144A>G chr6.hg19:g.112561013T>C NA Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 hg19 0.02 -0.131202 ATCxCAG COVERED NOVEL LAMA4-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000041877.3 0 2.708456 KEEP 0 0 0 9 291 TT 0.99254 0.227464 0 - 3 60 103 0 0 8.686686 10 60 285 34 ENST00000431543.2 0.230769 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 113209218 113209218 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:113209218A>G NA NA AL357514.1 (355731 upstream) : RNU6-1163P (83476 downstream) NA NA NA gtgagccaccacgcccagccc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.113209218A>G NA hg19 0.02 -0.043841 ACCxCGC UNCOVERED NOVEL 0 4 2.406852 KEEP 0 0 0 8 236 AA 0.99257 0.023895 0 2 60 72 0 0 6.693596 3 60 78 19 0.4 0.024074 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 113906967 113906967 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:113906967A>G NA NA RP11-346D19.1 (41972 upstream) : AL357519.2 (17149 downstream) NA NA NA gtgaaaccccatctctactaa 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.113906967A>G NA hg19 0.02 -0.077944 CCCxTCT UNCOVERED NOVEL 0 7 2.70763 KEEP 4 0 0 9 269 AA 0 0 0 3 39 74 0 0 6.306083 6 60 174 26 0.333333 0.077336 FRK 2444 __UNKNOWN__ __UNKNOWN__ 6 116323775 116323775 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:116323775C>A ENST00000606080.1 - 2 913 FRK_ENST00000538210.1_Intron NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related Src family tyrosine kinase NA NA cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) Regorafenib(DB08896) ctcaaaaaaacaaaaaaaTGG 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U00803 CCDS5103.1 6q21-q22.3 2014-06-25 2014-06-25 ENSG00000111816 ENSG00000111816 2444 2.7.10.1 SH2 domain containing 3955 protein-coding gene gene with protein product 606573 PTK5 protein tyrosine kinase 5, fyn-related kinase PTK5 NA 7510261 Standard NM_002031 NM_002031 NA Approved RAK, GTK uc003pwi.1 P42685 OTTHUMG00000015424 ENST00000606080.1:c.466+1264G>T chr6.hg19:g.116323775C>A NA B4DY49|Q13128|Q9NTR5 hg19 CCDS5103.1 0.02 1.278226 AAAxAAA COVERED NOVEL FRK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041924.2 14 4.280503 KEEP 0 2 59 35 1203 CC 1 0.996724 0 - 5 60 145 0 2 9.205412 61 60 2048 135 ENST00000606080.1 0.075758 0.996724 NT5DC1 221294 __UNKNOWN__ __UNKNOWN__ 6 116566587 116566587 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:116566587C>G ENST00000319550.4 + 0 2850 NM_152729.2 NP_689942.2 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase domain containing 1 NA NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1) 8 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) AGCTAAATCTCAGATATACTG 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(128;1440 1664 38087 41475 42869) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015138 CCDS5104.1 6q22.31 2008-02-05 2006-01-27 2006-01-27 ENSG00000178425 ENSG00000178425 221294 21556 protein-coding gene gene with protein product 5'-nucleotidase, cytosolic II-like 1 NT5C2L1 NA Standard NM_152729 NM_152729 NA Approved dJ486I3.1, MGC24302 uc003pwj.3 Q5TFE4 OTTHUMG00000015428 ENST00000319550.4:c.*1400C>G chr6.hg19:g.116566587C>G NA B2RND9|B3KR35|Q6XYD5 hg19 CCDS5104.1 0.02 1.906106 TCTxAGA COVERED NOVEL NT5DC1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041931.3 1 12.942284 KEEP 0 0 0 43 1531 CC 1 0.976865 0 + 6 60 208 0 0 15.433373 49 60 1650 130 ENST00000319550.4 0.109091 0.976865 NT5DC1 221294 __UNKNOWN__ __UNKNOWN__ 6 116566610 116566610 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:116566610C>G ENST00000319550.4 + 0 2873 NM_152729.2 NP_689942.2 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase domain containing 1 NA NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1) 8 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) GGATGAGTATCTCAGGGTAAG 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(128;1440 1664 38087 41475 42869) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015138 CCDS5104.1 6q22.31 2008-02-05 2006-01-27 2006-01-27 ENSG00000178425 ENSG00000178425 221294 21556 protein-coding gene gene with protein product 5'-nucleotidase, cytosolic II-like 1 NT5C2L1 NA Standard NM_152729 NM_152729 NA Approved dJ486I3.1, MGC24302 uc003pwj.3 Q5TFE4 OTTHUMG00000015428 ENST00000319550.4:c.*1423C>G chr6.hg19:g.116566610C>G NA B2RND9|B3KR35|Q6XYD5 hg19 CCDS5104.1 0.02 -0.412318 TATxTCA COVERED NOVEL NT5DC1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041931.3 1 11.136342 KEEP 0 0 0 37 1343 CC 1 0.941741 0 + 6 60 204 0 0 15.469045 41 60 1421 117 ENST00000319550.4 0.12766 0.941741 DSE 29940 __UNKNOWN__ __UNKNOWN__ 6 116596759 116596759 __UNKNOWN__ Intron SNP G G C rs113337314 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:116596759G>C ENST00000540275.1 + 2 645 Q9UL01 DSE_HUMAN dermatan sulfate epimerase NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) chondroitin-glucuronate 5-epimerase activity (GO:0047757) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) gtcaggagatggagaccatcc 0.527 NA g||| 36 0.0071885 0.0265 0.0014 5008 , , NA 17020 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF098066 CCDS5107.1 6q22 2008-02-05 2007-01-29 2007-01-29 ENSG00000111817 ENSG00000111817 29940 5.1.3.19 21144 protein-coding gene gene with protein product 605942 squamous cell carcinoma antigen recognized by T cells 2 SART2 NA 11920522, 16505484 Standard NM_013352 NM_001080976 NA Approved DSEPI uc003pws.3 Q9UL01 OTTHUMG00000015434 ENST00000540275.1:c.524+16629G>C chr6.hg19:g.116596759G>C NA Q5R3K6 hg19 0.02 -0.166673 GATxGAG UNCOVERED NOVEL DSE-203 KNOWN basic protein_coding NA protein_coding 6 2.407656 KEEP 3 0 0 8 268 GG 0 0 0 + 3 44 101 0 0 7.933062 16 60 526 40 ENST00000540275.1 0.157895 0.387407 FAM26E 254228 __UNKNOWN__ __UNKNOWN__ 6 116838148 116838148 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:116838148G>A ENST00000368599.3 + 0 1977 TRAPPC3L_ENST00000368602.3_Intron NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E NA NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) tgggaagtccgaggtcaggct 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC032556 CCDS5108.1 6q22.31 2008-02-05 2007-03-19 2007-03-19 ENSG00000178033 ENSG00000178033 254228 21568 protein-coding gene gene with protein product chromosome 6 open reading frame 188 C6orf188 NA Standard NM_153711 NM_153711 NA Approved dJ493F7.3, MGC45451 uc003pwy.3 Q8N5C1 OTTHUMG00000015442 ENST00000368599.3:c.*996G>A chr6.hg19:g.116838148G>A NA B2RDJ9|B3KSR3 hg19 CCDS5108.1 0.02 -0.384592 TCCxAGG COVERED NOVEL FAM26E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041956.1 2 4.21271 KEEP 0 0 0 14 447 GG 0.995343 0.913895 0 + 4 60 121 0 0 8.198257 40 60 1266 85 ENST00000368599.3 0.090909 0.918171 FAM26E 254228 __UNKNOWN__ __UNKNOWN__ 6 116842267 116842267 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:116842267A>G ENST00000368599.3 + 0 6096 TRAPPC3L_ENST00000368602.3_Intron NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E NA NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) gtgtgtgtgtatgcgtgtata 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC032556 CCDS5108.1 6q22.31 2008-02-05 2007-03-19 2007-03-19 ENSG00000178033 ENSG00000178033 254228 21568 protein-coding gene gene with protein product chromosome 6 open reading frame 188 C6orf188 NA Standard NM_153711 NM_153711 NA Approved dJ493F7.3, MGC45451 uc003pwy.3 Q8N5C1 OTTHUMG00000015442 ENST00000368599.3:c.*5115A>G chr6.hg19:g.116842267A>G NA B2RDJ9|B3KSR3 hg19 CCDS5108.1 0.02 1.579049 TGTxTGC COVERED NOVEL FAM26E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041956.1 26 17.738441 KEEP 0 3 103 95 2880 AA 1 0.999317 0 + 4 60 136 1 0 8.804596 68 60 1918 251 ENST00000368599.3 0.055556 0.999317 ROS1 6098 __UNKNOWN__ __UNKNOWN__ 6 117725328 117725328 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:117725328A>G ENST00000368508.3 - 5 637 GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Intron NM_002944.2 NP_002935.2 P08922 ROS1_HUMAN ROS proto-oncogene 1 , receptor tyrosine kinase NA NA cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) agcttgcagtaagctgagatc 0.547 NA T GOPC, SDC4, SLC34A2, EZR, LRIG3 glioblastoma, NSCLC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 6 6q22 6098 v-ros UR2 sarcoma virus oncogene homolog 1 (avian) O, E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M13599 CCDS5116.1 6q21-q22 2014-06-26 2014-06-26 ENSG00000047936 ENSG00000047936 6098 Fibronectin type III domain containing 10261 protein-coding gene gene with protein product 165020 v-ros avian UR2 sarcoma virus oncogene homolog 1, v-ros UR2 sarcoma virus oncogene homolog 1 (avian), c-ros oncogene 1 , receptor tyrosine kinase NA 1611909 Standard NM_002944 NA Approved MCF3, ROS, c-ros-1 uc003pxp.1 P08922 OTTHUMG00000016188 ENST00000368508.3:c.438+114T>C chr6.hg19:g.117725328A>G NA Q15368|Q5TDB5 hg19 CCDS5116.1 0.02 -0.359304 AGTxAGC COVERED NOVEL ROS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000043464.1 2 4.512323 KEEP 1 0 0 15 446 AA 0.99649 0.885755 0 - 5 60 155 0 0 11.52738 32 60 839 60 ENST00000368508.3 0.135135 0.888875 ROS1 6098 __UNKNOWN__ __UNKNOWN__ 6 117725332 117725332 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:117725332T>C ENST00000368508.3 - 5 637 GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Intron NM_002944.2 NP_002935.2 P08922 ROS1_HUMAN ROS proto-oncogene 1 , receptor tyrosine kinase NA NA cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) tgcagtaagctgagatcgcgc 0.552 NA T GOPC, SDC4, SLC34A2, EZR, LRIG3 glioblastoma, NSCLC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 6 6q22 6098 v-ros UR2 sarcoma virus oncogene homolog 1 (avian) O, E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M13599 CCDS5116.1 6q21-q22 2014-06-26 2014-06-26 ENSG00000047936 ENSG00000047936 6098 Fibronectin type III domain containing 10261 protein-coding gene gene with protein product 165020 v-ros avian UR2 sarcoma virus oncogene homolog 1, v-ros UR2 sarcoma virus oncogene homolog 1 (avian), c-ros oncogene 1 , receptor tyrosine kinase NA 1611909 Standard NM_002944 NA Approved MCF3, ROS, c-ros-1 uc003pxp.1 P08922 OTTHUMG00000016188 ENST00000368508.3:c.438+110A>G chr6.hg19:g.117725332T>C NA Q15368|Q5TDB5 hg19 CCDS5116.1 0.02 -0.394393 AGCxGAG COVERED NOVEL ROS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000043464.1 2 4.8145 KEEP 2 0 0 16 494 TT 0.997832 0.932466 0 - 4 60 121 0 0 8.413389 35 60 992 67 ENST00000368508.3 0.102564 0.934492 DCBLD1 285761 __UNKNOWN__ __UNKNOWN__ 6 117858440 117858440 __UNKNOWN__ Intron SNP A A G rs368712161 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:117858440A>G ENST00000296955.8 + 7 885 DCBLD1_ENST00000338728.5_Intron|DCBLD1_ENST00000368503.4_Intron|GOPC_ENST00000467125.1_Intron NM_173674.1 NP_775945.1 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 NA NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) gctcacgcctataatcccagc 0.473 NA a||| 1 0.000199681 0 0 5008 , , NA 17599 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 A 2,2652 0,2,1325 148 146 147 NA -2.2 0 6 147 7,4611 0,7,2302 no intron DCBLD1 NM_173674.1 0,9,3627 GG,GA,AA NA 0.1516,0.0754,0.1238 117858440 9,7263 1327 2309 3636 SO:0001627 intron_variant AK055462 CCDS34522.1 6q22.31 2003-06-20 ENSG00000164465 ENSG00000164465 285761 21479 protein-coding gene gene with protein product NA Standard NM_173674 NM_173674 NA Approved MGC46341, dJ94G16.1 uc003pxs.3 Q8N8Z6 OTTHUMG00000015455 ENST00000296955.8:c.760+52A>G chr6.hg19:g.117858440A>G NA Q5H992|Q8IYK5|Q8N7L9|Q96NH2 hg19 CCDS34522.1 0.02 -0.306559 CCTxTAA COVERED NOVEL DCBLD1-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000041980.2 2 2.640517 KEEP 1 1 32 20 580 AA 0.999869 0.800141 0 + 3 60 101 0 0 7.211379 29 60 770 61 ENST00000296955.8 0.09375 0.800245 CEP85L 387119 __UNKNOWN__ __UNKNOWN__ 6 118995455 118995455 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:118995455A>G ENST00000392500.3 - 2 33 CEP85L_ENST00000368488.5_Intron Q5SZL2 CE85L_HUMAN centrosomal protein 85kDa-like NA NA centrosome (GO:0005813)|cytoplasm (GO:0005737) NA ttgggaggccaaggcgggtgg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF308284 CCDS5119.2, CCDS43498.1, CCDS55052.1 6q22.31 2011-11-25 2011-11-25 2011-11-25 ENSG00000111860 ENSG00000111860 387119 21638 protein-coding gene gene with protein product chromosome 6 open reading frame 204 C6orf204 NA Standard NM_001042475 NM_206921 NA Approved NY-BR-15, bA57K17.2 uc003pya.2 Q5SZL2 OTTHUMG00000015465 ENST00000392500.3:c.138-9771T>C chr6.hg19:g.118995455A>G NA A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289 hg19 0.02 -0.271869 GCCxAGG UNCOVERED NOVEL CEP85L-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000041998.3 11 2.406916 KEEP 4 0 0 8 245 AA 0 0 0 - 3 60 99 0 0 7.144414 26 60 754 58 ENST00000392500.3 0.103448 0.717315 MCM9 254394 __UNKNOWN__ __UNKNOWN__ 6 119135191 119135191 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:119135191A>G ENST00000316316.6 - 0 4514 NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292) MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) ccgagtagctaggactacagg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC031658 CCDS5121.1, CCDS56447.1 6q22.31 2009-11-16 2007-04-04 2007-04-04 ENSG00000111877 ENSG00000111877 254394 21484 protein-coding gene gene with protein product 610098 minichromosome maintenance deficient domain containing 1, chromosome 6 open reading frame 61 MCMDC1, C6orf61 NA 16226853, 15850810, 16495042 Standard NM_153255 NM_153255 NA Approved MGC35304, dJ329L24.3, FLJ20170 uc021zeh.1 Q9NXL9 OTTHUMG00000015468 ENST00000316316.6:c.*796T>C chr6.hg19:g.119135191A>G NA B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5 hg19 CCDS56447.1 0.02 -0.263059 GCTxGGA COVERED NOVEL MCM9-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042005.4 4 2.340806 KEEP 0 1 29 18 567 AA 0.99986 0.693571 0 - 3 70 95 0 0 6.745957 26 60 726 63 ENST00000316316.6 0.103448 0.693668 RP11-510H23.1 0 __UNKNOWN__ __UNKNOWN__ 6 125232758 125232758 __UNKNOWN__ RNA SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:125232758A>C ENST00000439075.1 - 0 1987 NR_026876.1 NA NA NA cagagcaagaatccatctcaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000439075.1: chr6.hg19:g.125232758A>C NA hg19 0.02 -0.333217 AGAxTCC COVERED NOVEL RP11-510H23.1-001 KNOWN basic antisense NA antisense OTTHUMT00000042059.1 10 5.415632 KEEP 1 0 0 18 564 AA 0.999859 0.851864 0 - 3 60 102 0 0 7.267426 30 60 863 78 ENST00000439075.1 0.090909 0.851984 NCOA7 135112 __UNKNOWN__ __UNKNOWN__ 6 126251376 126251376 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:126251376A>G ENST00000368357.3 + 0 4640 NCOA7_ENST00000392477.2_3'UTR NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) tgtggcgggcacctgtaatcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ420542 CCDS5132.1, CCDS56448.1 6q22.33 2013-03-14 ENSG00000111912 ENSG00000111912 135112 21081 protein-coding gene gene with protein product TBC/LysM-associated domain containing 4 609752 NA 11971969 Standard XM_059748 NM_001199619 NA Approved ERAP140, dJ187J11.3, TLDC4 uc003qai.3 Q8NI08 OTTHUMG00000015513 ENST00000368357.3:c.*1459A>G chr6.hg19:g.126251376A>G NA B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4 hg19 CCDS5132.1 0.02 -0.1928 GGCxCCT COVERED NOVEL NCOA7-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042083.4 4 4.81065 KEEP 0 0 0 16 445 AA 0.997832 0.456764 0 + 3 60 87 0 0 6.463316 17 60 448 44 ENST00000368357.3 0.15 0.457757 TRMT11 60487 __UNKNOWN__ __UNKNOWN__ 6 126316996 126316996 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:126316996C>G ENST00000368332.3 + 3 210 TRMT11_ENST00000489934.1_Intron|TRMT11_ENST00000334379.5_Intron|TRMT11_ENST00000450358.1_Intron Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 homolog (S. cerevisiae) NA NA tRNA processing (GO:0008033) methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(226;0.0356) ACAGTCAGATCAGATATTCTT 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF182423 CCDS35496.1 6q11.1-q22.33 2009-06-15 2006-11-28 2006-11-28 ENSG00000066651 ENSG00000066651 60487 21080 protein-coding gene gene with protein product chromosome 6 open reading frame 75 C6orf75 NA Standard NM_021820 XM_006715546 NA Approved MDS024, dJ187J11.2, TRM11, TRMT11-1 uc003qam.3 Q7Z4G4 OTTHUMG00000015515 ENST00000368332.3:c.139-117C>G chr6.hg19:g.126316996C>G NA E1P570|Q5JY11|Q6PGQ5|Q9HC13 hg19 0.02 -0.105257 GATxAGA UNCOVERED NOVEL TRMT11-006 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000042096.3 1 7.521791 KEEP 0 0 0 25 816 CC 0.999931 0.139822 0 + 4 60 136 0 0 12.191622 8 60 250 36 ENST00000368332.3 0.333333 0.139832 TRMT11 60487 __UNKNOWN__ __UNKNOWN__ 6 126317141 126317141 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:126317141C>G ENST00000368332.3 + 3 239 c.167C>G c.(166-168)tCt>tGt p.S56C TRMT11_ENST00000489934.1_3'UTR|TRMT11_ENST00000334379.5_Missense_Mutation_p.S56C|TRMT11_ENST00000450358.1_Missense_Mutation_p.S56C Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 homolog (S. cerevisiae) 56 NA tRNA processing (GO:0008033) methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(226;0.0356) AGCATTCCCTCTGAAGATATT 0.358 NA OREG0017650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 167 146 153 NA NA NA 6 NA NA 126317141 2203 4300 6503 SO:0001583 missense AF182423 CCDS35496.1 6q11.1-q22.33 2009-06-15 2006-11-28 2006-11-28 ENSG00000066651 ENSG00000066651 60487 21080 protein-coding gene gene with protein product chromosome 6 open reading frame 75 C6orf75 NA Standard NM_021820 XM_006715546 NA Approved MDS024, dJ187J11.2, TRM11, TRMT11-1 uc003qam.3 Q7Z4G4 OTTHUMG00000015515 ENST00000368332.3:c.167C>G chr6.hg19:g.126317141C>G ENSP00000357316:p.Ser56Cys 1548 E1P570|Q5JY11|Q6PGQ5|Q9HC13 hg19 0.02 1.733822 CCTxTGA COVERED . . . . . . . . . . C 25.8 4.675600 0.88445 . . ENSG00000066651 ENST00000334379;ENST00000450358;ENST00000368332 T;T;T 0.52057 0.69;0.68;0.7 5.74 5.74 0.90152 . 0.106321 0.64402 D 0.000003 T 0.61198 0.2328 M 0.70842 2.15 0.80722 D 1 P;D 0.71674 0.78;0.998 P;P 0.60173 0.631;0.87 T 0.63897 -0.6533 10 0.72032 D 0.01 -17.0826 19.9243 0.97098 0.0:1.0:0.0:0.0 . 56;56 Q7Z4G4-2;Q7Z4G4 .;TRM11_HUMAN C 56 ENSP00000333934:S56C;ENSP00000405140:S56C;ENSP00000357316:S56C ENSP00000333934:S56C S + 2 0 TRMT11 126358834 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 5.117000 0.64667 2.701000 0.92244 0.555000 0.69702 TCT NOVEL TRMT11-006 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000042096.3 2 44.841603 KEEP 0 0 0 149 5283 CC 1 0.999678 0 + 22 60 728 0 0 62.319931 62 60 2105 332 ENST00000368332.3 0.261905 0.999678 LAMA2 3908 __UNKNOWN__ __UNKNOWN__ 6 129478980 129478980 __UNKNOWN__ Intron SNP A A G rs200307542 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:129478980A>G ENST00000421865.2 + 8 1255 NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383) structural molecule activity (GO:0005198) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGCTGTAGATATCAGCCATGA 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z26653 CCDS5138.1 6q22-q23 2014-09-17 2008-08-01 ENSG00000196569 ENSG00000196569 3908 Laminins 6482 protein-coding gene gene with protein product merosin, congenital muscular dystrophy 156225 LAMM NA 2185464, 8294519 Standard NM_000426 NA Approved uc003qbn.3 P24043 OTTHUMG00000015545 ENST00000421865.2:c.1206+3152A>G chr6.hg19:g.129478980A>G NA Q14736|Q5VUM2|Q93022 hg19 CCDS5138.1 0.02 1.918248 GATxTCA COVERED NOVEL LAMA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042180.1 1 6.32438 KEEP 1 3 112 60 1823 AA 1 0.993703 0 + 11 47 380 0 0 30.417694 54 60 1502 174 ENST00000421865.2 0.169231 0.993703 LAMA2 3908 __UNKNOWN__ __UNKNOWN__ 6 129480304 129480304 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:129480304G>A ENST00000421865.2 + 8 1255 NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383) structural molecule activity (GO:0005198) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTCACCTTTAGTAATTGGTCT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z26653 CCDS5138.1 6q22-q23 2014-09-17 2008-08-01 ENSG00000196569 ENSG00000196569 3908 Laminins 6482 protein-coding gene gene with protein product merosin, congenital muscular dystrophy 156225 LAMM NA 2185464, 8294519 Standard NM_000426 NA Approved uc003qbn.3 P24043 OTTHUMG00000015545 ENST00000421865.2:c.1206+4476G>A chr6.hg19:g.129480304G>A NA Q14736|Q5VUM2|Q93022 hg19 CCDS5138.1 0.02 -0.315798 TTAxTAA COVERED NOVEL LAMA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042180.1 0 6.153616 KEEP 3 1 27 30 1060 GG 0.999997 0.818462 0 + 4 27 110 0 0 7.460068 32 60 1091 96 ENST00000421865.2 0.111111 0.818465 LAMA2 3908 __UNKNOWN__ __UNKNOWN__ 6 129601088 129601088 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:129601088T>C ENST00000421865.2 + 18 2499 NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383) structural molecule activity (GO:0005198) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGGGTGAGAATGACCAGCCTG 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z26653 CCDS5138.1 6q22-q23 2014-09-17 2008-08-01 ENSG00000196569 ENSG00000196569 3908 Laminins 6482 protein-coding gene gene with protein product merosin, congenital muscular dystrophy 156225 LAMM NA 2185464, 8294519 Standard NM_000426 NA Approved uc003qbn.3 P24043 OTTHUMG00000015545 ENST00000421865.2:c.2451-118T>C chr6.hg19:g.129601088T>C NA Q14736|Q5VUM2|Q93022 hg19 CCDS5138.1 0.02 -0.061394 GAAxGAC UNCOVERED NOVEL LAMA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042180.1 0 6.91676 KEEP 0 0 0 23 647 TT 0.999892 0.043782 0 + 3 60 99 0 0 9.255576 4 60 113 31 ENST00000421865.2 0.428571 0.043787 L3MBTL3 84456 __UNKNOWN__ __UNKNOWN__ 6 130407190 130407190 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:130407190G>A ENST00000529410.1 + 18 1886 L3MBTL3_ENST00000533560.1_Intron|L3MBTL3_ENST00000361794.2_Intron|L3MBTL3_ENST00000368136.2_Intron|L3MBTL3_ENST00000368139.2_Intron|L3MBTL3_ENST00000526019.1_Intron Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) NA NA chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) gagccaccgcgcctggccAGC 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058701 CCDS34537.1, CCDS34538.1 6q23 2013-01-10 ENSG00000198945 ENSG00000198945 84456 Sterile alpha motif (SAM) domain containing 23035 protein-coding gene gene with protein product NA Standard XM_027074 NM_032438 NA Approved KIAA1798 uc003qbt.3 Q96JM7 OTTHUMG00000015554 ENST00000529410.1:c.1408-95G>A chr6.hg19:g.130407190G>A NA Q4VXE1|Q5VUM9|Q6P9B5 hg19 CCDS34537.1 0.02 -0.429804 CGCxCCT COVERED NOVEL L3MBTL3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042195.2 5 9.327217 KEEP 1 0 0 31 1000 GG 0.999997 0.954489 0 + 5 60 144 0 0 9.779502 44 60 1441 106 ENST00000529410.1 0.102041 0.954491 MOXD1 26002 __UNKNOWN__ __UNKNOWN__ 6 132634823 132634823 __UNKNOWN__ Intron SNP C C T rs546787683 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:132634823C>T ENST00000367963.3 - 10 1627 MOXD1_ENST00000336749.3_Intron NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) gaggccgaggcgggtggatca 0.498 NA C||| 1 0.000199681 8e-04 0 5008 , , NA 15980 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY007239 CCDS5152.2 6q23.2 2010-09-24 ENSG00000079931 ENSG00000079931 26002 21063 protein-coding gene gene with protein product 609000 NA 9751809 Standard NM_015529 XM_006715456 NA Approved DKFZP564G202, MOX, dJ248E1.1 uc003qdf.3 Q6UVY6 OTTHUMG00000055853 ENST00000367963.3:c.1508+1950G>A chr6.hg19:g.132634823C>T NA Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3 hg19 CCDS5152.2 0.02 -0.070153 AGGxGGG UNCOVERED NOVEL MOXD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000125837.1 8 2.963912 KEEP 3 0 0 10 332 CC 0.99257 0.053735 0 - 4 60 110 0 0 10.497863 4 40 125 25 ENST00000367963.3 0.5 0.054137 ALDH8A1 64577 __UNKNOWN__ __UNKNOWN__ 6 135239109 135239109 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:135239109T>C ENST00000265605.2 - 0 1976 ALDH8A1_ENST00000367845.2_3'UTR NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 NA NA 9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622) retinal dehydrogenase activity (GO:0001758) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) ccatgttgcctaggctgatct 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL021939 CCDS5171.1, CCDS5172.1, CCDS55057.1 6q24.1-q25.1 2008-07-03 ENSG00000118514 ENSG00000118514 64577 Aldehyde dehydrogenases 15471 protein-coding gene gene with protein product 606467 NA 11007799 Standard NM_001193480 NA Approved ALDH12 uc003qew.3 Q9H2A2 OTTHUMG00000015623 ENST00000265605.2:c.*444A>G chr6.hg19:g.135239109T>C NA B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80 hg19 CCDS5171.1 0.02 1.844865 GCCxAGG COVERED NOVEL ALDH8A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042334.2 21 9.341336 KEEP 0 1 34 43 1329 TT 1 0.990964 0 - 5 60 171 0 0 12.212171 50 60 1448 137 ENST00000265605.2 0.090909 0.990964 PDE7B 27115 __UNKNOWN__ __UNKNOWN__ 6 136173045 136173045 __UNKNOWN__ De_novo_Start_OutOfFrame SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:136173045G>A ENST00000308191.6 + 0 212 NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B NA NA cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cytosol (GO:0005829) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872) breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920) GGATGAAGTTGCTGGATTCTG 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AB038040 CCDS5175.1 6q23-q24 2008-03-18 ENSG00000171408 ENSG00000171408 27115 3.1.4.17 Phosphodiesterases 8792 protein-coding gene gene with protein product 604645 NA 10618442 Standard XM_005266931 NA Approved uc003qgp.3 Q9NP56 OTTHUMG00000015641 ENST00000308191.6:c.-92G>A chr6.hg19:g.136173045G>A NA Q5W154 hg19 CCDS5175.1 0.02 2.497637 GTTxCTG COVERED NOVEL PDE7B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042371.1 17 74.334433 KEEP 0 0 0 247 8811 GG 1 0.999995 0 + 6 60 173 0 0 10.116194 102 70 3435 530 ENST00000308191.6 0.055556 0.999995 BCLAF1 9774 __UNKNOWN__ __UNKNOWN__ 6 136599822 136599822 __UNKNOWN__ Missense_Mutation SNP C C G rs9942517 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:136599822C>G ENST00000531224.1 - 4 449 c.197G>C c.(196-198)gGa>gCa p.G66A BCLAF1_ENST00000353331.4_Missense_Mutation_p.G64A|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G64A|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G64A|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G66A|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G66A NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 66 NA G -> A (in dbSNP:rs9942517). apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCGTCTCATTCCTCTATTATT 0.413 NA C||| 0 0 0 0 5008 , , NA 18998 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA Colon(142;1534 1789 5427 7063 28491) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF249273 CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1 6q22-q23 2007-03-02 ENSG00000029363 ENSG00000029363 9774 16863 protein-coding gene gene with protein product 612588 NA 8724849, 10330179 Standard NM_014739 NM_001077440 NA Approved KIAA0164, BTF uc003qgx.1 Q9NYF8 OTTHUMG00000033323 ENST00000531224.1:c.197G>C chr6.hg19:g.136599822C>G ENSP00000435210:p.Gly66Ala NA A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 hg19 CCDS5177.1 0.02 -0.385945 ATTxCTC COVERED 1091 0.49954212454212454 244 0.4959349593495935 182 0.5027624309392266 286 0.5 379 0.5 C 16.59 3.165888 0.57476 . . ENSG00000029363 ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826 T;T;T;T;T;T;T 0.66815 0.12;-0.16;-0.11;-0.23;0.05;-0.16;-0.22 5.64 5.64 0.86602 . 0.000000 0.64402 D 0.000014 T 0.76528 0.4000 L 0.57536 1.79 0.09310 P 1.0 D;D;D;D 0.76494 0.999;0.999;0.999;0.999 D;D;D;D 0.79108 0.992;0.992;0.992;0.992 T 0.75374 -0.3340 9 0.49607 T 0.09 -13.0213 19.6986 0.96043 0.0:1.0:0.0:0.0 rs9942517;rs61417605 64;64;66;66 Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4 .;.;BCLF1_HUMAN;. A 66;64;66;66;64;64;66 ENSP00000435210:G66A;ENSP00000229446:G64A;ENSP00000435441:G66A;ENSP00000436501:G66A;ENSP00000434826:G64A;ENSP00000376159:G64A;ENSP00000431734:G66A ENSP00000229446:G64A G - 2 0 BCLAF1 136641515 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.655000 0.67981 2.660000 0.90430 0.557000 0.71058 GGA NOVEL BCLAF1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042375.2 3 2.27705 KEEP 0 2 67 31 1047 CC 0.999998 0.918169 0 - 12 60 392 0 0 34.161837 29 60 933 101 ENST00000531224.1 0.292683 0.918171 BCLAF1 9774 __UNKNOWN__ __UNKNOWN__ 6 136599836 136599836 __UNKNOWN__ Silent SNP G G A rs9942518 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:136599836G>A ENST00000531224.1 - 4 435 c.183C>T c.(181-183)taC>taT p.Y61Y BCLAF1_ENST00000353331.4_Silent_p.Y59Y|BCLAF1_ENST00000392348.2_Silent_p.Y59Y|BCLAF1_ENST00000527759.1_Silent_p.Y59Y|BCLAF1_ENST00000527536.1_Silent_p.Y61Y|BCLAF1_ENST00000530767.1_Silent_p.Y61Y NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 61 NA apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TATTATTTCTGTAATCGCGAC 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(142;1534 1789 5427 7063 28491) NA 0 73 70 71 NA NA NA 6 NA NA 136599836 2203 4300 6503 SO:0001819 synonymous_variant AF249273 CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1 6q22-q23 2007-03-02 ENSG00000029363 ENSG00000029363 9774 16863 protein-coding gene gene with protein product 612588 NA 8724849, 10330179 Standard NM_014739 NM_001077440 NA Approved KIAA0164, BTF uc003qgx.1 Q9NYF8 OTTHUMG00000033323 ENST00000531224.1:c.183C>T chr6.hg19:g.136599836G>A NA A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 hg19 CCDS5177.1 0.02 -0.394688 TCTxTAA COVERED NOVEL BCLAF1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042375.2 3 3.480831 KEEP 0 2 61 33 1173 GG 0.999999 0.926639 0 - 12 60 348 0 0 29.612948 30 60 1017 119 ENST00000531224.1 0.285714 0.92664 BCLAF1 9774 __UNKNOWN__ __UNKNOWN__ 6 136599842 136599842 __UNKNOWN__ Silent SNP G G A rs9942519 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:136599842G>A ENST00000531224.1 - 4 429 c.177C>T c.(175-177)cgC>cgT p.R59R BCLAF1_ENST00000353331.4_Silent_p.R57R|BCLAF1_ENST00000392348.2_Silent_p.R57R|BCLAF1_ENST00000527759.1_Silent_p.R57R|BCLAF1_ENST00000527536.1_Silent_p.R59R|BCLAF1_ENST00000530767.1_Silent_p.R59R NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 59 NA apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTCTGTAATCGCGACGATAAT 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(142;1534 1789 5427 7063 28491) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AF249273 CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1 6q22-q23 2007-03-02 ENSG00000029363 ENSG00000029363 9774 16863 protein-coding gene gene with protein product 612588 NA 8724849, 10330179 Standard NM_014739 NM_001077440 NA Approved KIAA0164, BTF uc003qgx.1 Q9NYF8 OTTHUMG00000033323 ENST00000531224.1:c.177C>T chr6.hg19:g.136599842G>A NA A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 hg19 CCDS5177.1 0.02 -0.41224 ATCxCGA COVERED NOVEL BCLAF1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042375.2 5 4.180318 KEEP 2 2 63 36 1170 GG 1 0.941741 0 - 13 60 388 0 1 33.55855 30 60 1008 128 ENST00000531224.1 0.302326 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 136614901 136614901 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:136614901A>G NA NA BCLAF1 (3912 upstream) : RP3-406A7.7 (41950 downstream) NA NA NA tgggattacaagcgtgagcca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.136614901A>G NA hg19 0.02 -0.219036 ACAxGCG COVERED NOVEL 0 3 2.407389 KEEP 1 0 0 8 259 AA 0.99257 0.54878 0 3 60 102 0 0 7.894036 18 60 530 53 0.142857 0.552887 PEX7 5191 __UNKNOWN__ __UNKNOWN__ 6 137223192 137223192 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:137223192A>G ENST00000318471.4 + 9 984 PEX7_ENST00000541292.1_Intron NM_000288.3 NP_000279.1 O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 NA NA endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558) cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803) lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) caaagtgctgagattacaggc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF180814 CCDS5180.1 6q21-q22.2 2013-01-10 ENSG00000112357 ENSG00000112357 5191 WD repeat domain containing 8860 protein-coding gene gene with protein product Refsum disease 601757 NA 9090381, 10673331 Standard NM_000288 NM_000288 NA Approved PTS2R, RD uc003qhd.3 O00628 OTTHUMG00000015650 ENST00000318471.4:c.903+3813A>G chr6.hg19:g.137223192A>G NA C0H5X6 hg19 CCDS5180.1 0.02 -0.105244 CTGxGAT UNCOVERED NOVEL PEX7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042387.2 2 2.407313 KEEP 1 0 0 8 254 AA 0 0 0 + 3 60 94 0 0 8.032423 8 60 239 34 ENST00000318471.4 0.272727 0.139832 ECT2L 345930 __UNKNOWN__ __UNKNOWN__ 6 139143814 139143814 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:139143814G>A ENST00000423192.1 + 3 340 ECT2L_ENST00000367682.2_Intron|ECT2L_ENST00000541398.1_Intron Q008S8 ECT2L_HUMAN epithelial cell transforming 2 like NA NA Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 gaacagctccggtctacagct 0.473 NA N, Splice, Mis ETP ALL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Rec yes 6 6q24.1 345930 epithelial cell transforming sequence 2 oncogene-like L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43508.1 6q24.1 2014-03-11 2014-03-11 ENSG00000203734 ENSG00000203734 345930 Rho guanine nucleotide exchange factors, F-boxes / other 21118 protein-coding gene gene with protein product lung specific F-box and DH domain containing protein, F-box protein 49 chromosome 6 open reading frame 91, epithelial cell transforming sequence 2 oncogene-like C6orf91 NA Standard NM_001077706 NM_001077706 NA Approved ARHGEF32, FBXO49, LFDH uc021zfx.1 Q008S8 OTTHUMG00000015679 ENST00000423192.1:c.179+8074G>A chr6.hg19:g.139143814G>A NA B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4 hg19 CCDS43508.1 0.02 1.401088 TCCxGTC COVERED NOVEL ECT2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042441.3 0 15.941788 KEEP 1 0 0 53 1637 GG 1 0.979526 0 + 4 50 124 0 0 8.055858 52 60 1579 129 ENST00000423192.1 0.071429 0.979526 REPS1 85021 __UNKNOWN__ __UNKNOWN__ 6 139299658 139299658 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:139299658A>G ENST00000258062.5 - 1 732 REPS1_ENST00000450536.2_Intron|REPS1_ENST00000367663.4_Intron|REPS1_ENST00000415951.2_Intron|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000531675.1_Intron NM_031922.3 NP_114128.3 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 NA NA receptor-mediated endocytosis (GO:0006898) coated pit (GO:0005905)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) tgttgcccagactggtctcaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1 6q24.1 2013-01-10 ENSG00000135597 ENSG00000135597 85021 EF-hand domain containing 15578 protein-coding gene gene with protein product 614825 NA Standard XM_005267177 NA Approved uc011edr.2 Q96D71 OTTHUMG00000015685 ENST00000258062.5:c.153+9008T>C chr6.hg19:g.139299658A>G NA B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9 hg19 CCDS5193.2 0.02 -0.324425 CAGxCTG COVERED NOVEL REPS1-003 KNOWN NAGNAG_splice_site|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042449.3 9 6.318369 KEEP 0 0 0 21 655 AA 0.999869 0.835607 0 - 3 60 105 0 0 7.526617 31 60 874 87 ENST00000258062.5 0.088235 0.835716 AIG1 51390 __UNKNOWN__ __UNKNOWN__ 6 143382266 143382266 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:143382266T>C ENST00000357847.4 + 1 191 AIG1_ENST00000344492.5_Intron|AIG1_ENST00000494282.2_Intron|AIG1_ENST00000275235.4_Intron|AIG1_ENST00000367596.1_Intron|AIG1_ENST00000367598.5_Intron NM_016108.2 NP_057192.2 Q9NVV5 AIG1_HUMAN androgen-induced 1 NA NA integral component of membrane (GO:0016021) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) tgtgtgtgtgtgtgtgtgtgt 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF153605 CCDS5198.1, CCDS69216.1 6q24.1 2008-02-05 ENSG00000146416 ENSG00000146416 51390 21607 protein-coding gene gene with protein product 608514 NA 11266118 Standard NM_016108 NM_001286587 NA Approved dJ95L4.1, AIG-1, FLJ10485 uc003qjh.3 Q9NVV5 OTTHUMG00000015721 ENST00000357847.4:c.141+63T>C chr6.hg19:g.143382266T>C NA B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4 hg19 CCDS5198.1 0.02 1.413371 GTGxGTG COVERED NOVEL AIG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042506.1 0 12.364826 KEEP 0 4 140 90 2610 TT 1 0.999962 0 + 17 70 505 0 0 38.965984 82 60 2186 204 ENST00000357847.4 0.171717 0.999962 STX11 8676 __UNKNOWN__ __UNKNOWN__ 6 144509105 144509105 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:144509105G>A ENST00000367568.4 + 0 1524 NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 NA NA cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312) Golgi apparatus (GO:0005794)|membrane (GO:0016020) SNAP receptor activity (GO:0005484) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GAAAAACCACGTTCTTCCTTT 0.393 NA Familial Hemophagocytic Lymphohistiocytosis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AF044309 CCDS5205.1 6q24.1 2014-09-17 ENSG00000135604 ENSG00000135604 8676 11429 protein-coding gene gene with protein product 605014 NA 9553086 Standard NM_003764 NA Approved uc003qks.4 O75558 OTTHUMG00000015739 ENST00000367568.4:c.*477G>A chr6.hg19:g.144509105G>A NA E1P598|O75378|O95148|Q5TCL6 hg19 CCDS5205.1 0.02 -0.412278 CACxTTC COVERED NOVEL STX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042544.1 1 6.318197 KEEP 0 0 0 21 701 GG 0.999869 0.941618 0 + 4 60 120 0 0 7.972436 43 60 1401 97 ENST00000367568.4 0.085106 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 145812937 145812937 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:145812937T>A NA NA RNU1-33P (28402 upstream) : EPM2A (133503 downstream) NA NA NA GGCTTCTTCTTCTCCTGTATC 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.145812937T>A NA hg19 0.02 -0.149087 TCTxCTC COVERED NOVEL 0 0 3.610967 KEEP 0 0 0 12 375 TT 0.993634 0.290142 0 10 60 283 0 0 28.065753 7 60 210 38 0.588235 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 145812938 145812938 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:145812938C>T NA NA RNU1-33P (28403 upstream) : EPM2A (133502 downstream) NA NA NA GCTTCTTCTTCTCCTGTATCA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.145812938C>T NA hg19 0.02 -0.157885 CTTxTCC COVERED NOVEL 0 0 3.611889 KEEP 0 0 0 12 432 CC 0.993634 0.320751 0 11 60 333 0 0 33.32117 7 60 235 38 0.611111 0.322807 SASH1 23328 __UNKNOWN__ __UNKNOWN__ 6 148853410 148853410 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:148853410A>T ENST00000367467.3 + 14 2039 NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 NA NA positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044) membrane (GO:0016020)|protein complex (GO:0043234) mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901) breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) tttgccatgtagcccaggctg 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018333 CCDS5212.1 6q24.3 2013-01-10 ENSG00000111961 ENSG00000111961 23328 SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing 19182 protein-coding gene gene with protein product 607955 NA 9872452, 12771949 Standard NM_015278 NM_015278 NA Approved KIAA0790, dJ323M4.1, SH3D6A uc003qme.1 O94885 OTTHUMG00000015773 ENST00000367467.3:c.1565-523A>T chr6.hg19:g.148853410A>T NA Q5TGN5|Q8TAI0|Q9H7R7 hg19 CCDS5212.1 0.02 -0.087699 TGTxGCC UNCOVERED NOVEL SASH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042619.1 4 2.708149 KEEP 0 0 0 9 278 AA 0.99254 0.098977 0 + 3 60 88 1 0 7.578648 7 60 202 24 ENST00000367467.3 0.3 0.099721 GINM1 116254 __UNKNOWN__ __UNKNOWN__ 6 149912183 149912183 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:149912183G>C ENST00000367419.5 + 0 1323 NM_138785.3 NP_620140.1 Q9NU53 GINM1_HUMAN glycoprotein integral membrane 1 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NA gtaatcccaggactttgggag 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC014320 CCDS5216.1 6q24.3 2012-07-20 2012-07-20 2012-07-20 ENSG00000055211 ENSG00000055211 116254 21074 protein-coding gene gene with protein product chromosome 6 open reading frame 72 C6orf72 NA Standard NM_138785 NM_138785 NA Approved dJ12G14.2 uc003qmq.1 Q9NU53 OTTHUMG00000015789 ENST00000367419.5:c.*209G>C chr6.hg19:g.149912183G>C NA B2RDY7|E1P5A2 hg19 CCDS5216.1 0.02 3.903123 CAGxACT COVERED NOVEL GINM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042644.1 25 5.655419 KEEP 1 10 332 135 4643 GG 1 0.999994 0 + 7 60 241 0 0 16.558429 89 60 2954 331 ENST00000367419.5 0.072917 0.999994 RAET1E 135250 __UNKNOWN__ __UNKNOWN__ 6 150204592 150204592 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:150204592A>G ENST00000532335.1 - 0 2017 RP11-244K5.8_ENST00000606915.1_RNA NM_001243328.1 NP_001230257.1 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E NA NA antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) natural killer cell lectin-like receptor binding (GO:0046703) cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) cagcactttgagaggctgagg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF359243 CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1 6q24.3 2011-02-09 ENSG00000164520 ENSG00000164520 135250 16793 protein-coding gene gene with protein product 609243 NA 11827464 Standard NM_139165 NM_139165 NA Approved LETAL, bA350J20.7, ULBP4 uc003qnl.1 Q8TD07 OTTHUMG00000015796 ENST00000532335.1:c.*1032T>C chr6.hg19:g.150204592A>G NA A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41 hg19 CCDS59043.1 0.02 -0.403457 TTGxGAG COVERED NOVEL RAET1E-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000384020.1 4 8.717769 KEEP 0 0 0 29 879 AA 0.999997 0.934489 0 - 5 60 165 0 0 12.34279 35 60 1055 95 ENST00000532335.1 0.125 0.934492 IYD 389434 __UNKNOWN__ __UNKNOWN__ 6 150721401 150721401 __UNKNOWN__ 3'UTR SNP T T C rs657972 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:150721401T>C ENST00000344419.3 + 0 3038 IYD_ENST00000229447.5_3'UTR NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase NA NA cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TGCAGCCAGGTTATTTACTTC 0.408 NA T||| 2797 0.558506 0.4834 0.5893 5008 , , NA 19162 0.4246 NA 0.7515 False NA ,,, NA NA NA 2504 0.5777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK129950 CCDS5227.1, CCDS55066.1, CCDS55067.1 6q25.1 2006-08-24 2006-08-24 2006-08-24 ENSG00000009765 ENSG00000009765 389434 21071 protein-coding gene gene with protein product 612025 chromosome 6 open reading frame 71 C6orf71 NA 16316988, 15289438 Standard NM_203395 NM_001164694 NA Approved dJ422F24.1, DEHAL1 uc003qnx.2 Q6PHW0 OTTHUMG00000016347 ENST00000344419.3:c.*2028T>C chr6.hg19:g.150721401T>C NA C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8 hg19 CCDS5227.1 0.02 -0.333149 AGGxTAT COVERED NOVEL IYD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043754.3 0 10.521241 KEEP 0 0 0 35 1092 TT 0.999999 0.851983 0 + 3 60 101 0 0 6.976095 35 60 987 104 ENST00000344419.3 0.078947 0.851984 ZBTB2 57621 __UNKNOWN__ __UNKNOWN__ 6 151704332 151704332 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:151704332T>G ENST00000325144.4 - 1 129 NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) tgggattacatgcgtgagcca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC020172 CCDS5231.1 6q25.1 2013-01-09 ENSG00000181472 ENSG00000181472 57621 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 20868 protein-coding gene gene with protein product NA 10819331 Standard NM_020861 NM_020861 NA Approved KIAA1483, ZNF437, bA351K16.2 uc003qoh.3 Q8N680 OTTHUMG00000015834 ENST00000325144.4:c.11+8222A>C chr6.hg19:g.151704332T>G NA A8K7C7|Q5SZ81|Q9P245 hg19 CCDS5231.1 0.02 -0.16662 ACAxGCG COVERED NOVEL ZBTB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042715.1 7 2.40584 KEEP 1 0 0 8 238 TT 0.99257 0.351317 0 - 5 60 163 0 0 14.539826 10 60 289 38 ENST00000325144.4 0.333333 0.353947 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152768560 152768560 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:152768560A>G ENST00000367255.5 - 29 4271 SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 NA NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCACTCAGAACTGTCTGTTT 0.393 NA HNSCC(10;0.0054) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 41 41 41 NA NA NA 6 NA NA 152768560 2203 4300 6503 SO:0001627 intron_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.3669+32T>C chr6.hg19:g.152768560A>G NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 -0.087715 AGAxCTG UNCOVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 0 5.717851 KEEP 0 0 0 19 623 AA 0.99986 0.099707 0 - 6 60 194 0 0 19.338958 4 60 124 33 ENST00000367255.5 0.6 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 154222185 154222185 __UNKNOWN__ IGR SNP C C A rs200935551 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:154222185C>A NA NA RNU6-896P (219497 upstream) : OPRM1 (109450 downstream) NA NA NA tgtgatccgcccgcctcggcc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.154222185C>A NA hg19 0.02 -0.184189 CGCxCGC COVERED NOVEL 0 12 3.611916 KEEP 5 0 0 12 439 CC 0.993634 0.454842 0 5 35 148 0 0 12.713025 12 60 397 59 0.294118 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 154222186 154222186 __UNKNOWN__ IGR SNP C C A rs201871151 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:154222186C>A NA NA RNU6-896P (219498 upstream) : OPRM1 (109449 downstream) NA NA NA gtgatccgcccgcctcggcct 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.154222186C>A NA hg19 0.02 -0.191545 GCCxGCC COVERED NOVEL 0 12 3.611835 KEEP 5 0 0 12 429 CC 0.993634 0.454842 0 4 35 117 0 0 9.60192 13 60 378 59 0.235294 0.457757 OPRM1 4988 __UNKNOWN__ __UNKNOWN__ 6 154431761 154431761 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:154431761A>T ENST00000522236.1 + 4 2172 OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000434900.2_Intron NM_001145287.1 NP_001138759.1 P35372 OPRM_HUMAN opioid receptor, mu 1 NA NA adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193) cggtggctcaagcctgtaatc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L29301 CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1 6q24-q25 2012-08-08 ENSG00000112038 ENSG00000112038 4988 GPCR / Class A : Opioid receptors 8156 protein-coding gene gene with protein product 600018 NA Standard NM_000914 NM_001145285 NA Approved MOR1 uc003qpo.1 P35372 OTTHUMG00000015870 ENST00000522236.1:c.865-8057A>T chr6.hg19:g.154431761A>T NA B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57 hg19 CCDS55071.1 0.02 -0.192955 TCAxGCC COVERED NOVEL OPRM1-020 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000375975.1 3 5.717502 KEEP 0 0 0 19 601 AA 0.99986 0.457692 0 + 3 60 92 0 0 6.892689 18 60 534 47 ENST00000522236.1 0.142857 0.457757 TIAM2 26230 __UNKNOWN__ __UNKNOWN__ 6 155445435 155445435 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:155445435T>A ENST00000461783.3 + 5 1156 TIAM2_ENST00000318981.5_Intron|TIAM2_ENST00000456144.1_Intron|TIAM2_ENST00000367174.2_Intron Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 NA NA apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) gattacaggcttgagccacca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34558.1, CCDS34559.1 6q25 2013-01-10 ENSG00000146426 ENSG00000146426 26230 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 11806 protein-coding gene gene with protein product 604709 NA 10512681 Standard NM_012454 NM_012454 NA Approved STEF uc003qqe.3 Q8IVF5 OTTHUMG00000015880 ENST00000461783.3:c.-117-3189T>A chr6.hg19:g.155445435T>A NA B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0 hg19 CCDS34558.1 0.02 -0.157881 GGCxTGA COVERED NOVEL TIAM2-005 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000387980.2 2 2.406158 KEEP 0 0 0 8 241 TT 0.99257 0.384528 0 + 3 60 94 0 0 7.391849 14 60 426 39 ENST00000461783.3 0.176471 0.387407 SYNJ2 8871 __UNKNOWN__ __UNKNOWN__ 6 158487406 158487406 __UNKNOWN__ Intron SNP A A T rs1009012 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:158487406A>T ENST00000355585.4 + 12 1600 SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367121.3_Intron|SYNJ2_ENST00000367122.2_Intron NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|membrane (GO:0016020) nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723) biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AGGCAGCCTCATCTGTCTTTT 0.483 NA T||| 1712 0.341853 0.3079 0.219 5008 , , NA 22371 0.3185 NA 0.3757 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002346 CCDS5254.1 6q25.3 2008-05-15 ENSG00000078269 ENSG00000078269 8871 11504 protein-coding gene gene with protein product 609410 NA Standard NM_003898 NA Approved INPP5H uc003qqx.2 O15056 OTTHUMG00000015904 ENST00000355585.4:c.1526-70A>T chr6.hg19:g.158487406A>T NA Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226 hg19 CCDS5254.1 0.02 -0.087713 CTCxTCT UNCOVERED NOVEL SYNJ2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042858.2 1 4.814145 KEEP 0 0 0 16 497 AA 0.997832 0.099505 0 + 3 60 91 0 0 7.878504 7 60 217 31 ENST00000355585.4 0.3 0.099721 SYNJ2 8871 __UNKNOWN__ __UNKNOWN__ 6 158519189 158519189 __UNKNOWN__ 3'UTR SNP C C G rs2502598 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:158519189C>G ENST00000355585.4 + 0 6359 SYNJ2_ENST00000367122.2_3'UTR NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|membrane (GO:0016020) nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723) biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TCTTTTCTCACCAAAAAGGAG 0.363 NA C||| 2700 0.539137 0.5832 0.3545 5008 , , NA 19984 0.5685 NA 0.5109 False NA ,,, NA NA NA 2504 0.6094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002346 CCDS5254.1 6q25.3 2008-05-15 ENSG00000078269 ENSG00000078269 8871 11504 protein-coding gene gene with protein product 609410 NA Standard NM_003898 NA Approved INPP5H uc003qqx.2 O15056 OTTHUMG00000015904 ENST00000355585.4:c.*1793C>G chr6.hg19:g.158519189C>G NA Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226 hg19 CCDS5254.1 0.02 -0.245617 TCAxCAA COVERED NOVEL SYNJ2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042858.2 0 3.912797 KEEP 0 0 0 13 458 CC 0.994391 0.63775 0 + 3 60 108 0 0 8.091695 25 60 817 53 ENST00000355585.4 0.107143 0.641347 C6orf99 100130967 __UNKNOWN__ __UNKNOWN__ 6 159301180 159301180 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:159301180A>G ENST00000367072.1 + 1 27 C6orf99_ENST00000367073.4_Intron|C6orf99_ENST00000608817.1_Intron NM_001195032.1 NP_001181961.1 Q4VX62 CF099_HUMAN chromosome 6 open reading frame 99 NA NA NA tgcccgcctcagcctcccaaa 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS55073.1 6q25.3 2011-12-14 ENSG00000203711 ENSG00000203711 100130967 21179 protein-coding gene gene with protein product NA Standard NM_001195032 NM_001195032 NA Approved yR211F11.1 uc021zhp.1 Q4VX62 OTTHUMG00000015921 ENST00000367072.1:c.-16+10183A>G chr6.hg19:g.159301180A>G NA Q4VX61 hg19 CCDS55073.1 0.02 -0.15789 CTCxGCC COVERED NOVEL C6orf99-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042887.2 2 2.407609 KEEP 9 0 0 8 262 AA 0.99257 0.320408 0 + 3 60 101 0 0 8.009953 15 60 465 54 ENST00000367072.1 0.166667 0.322807 SOD2 6648 __UNKNOWN__ __UNKNOWN__ 6 160131801 160131801 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:160131801T>A ENST00000546087.1 - 4 1713 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial NA NA age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) tgctctgacctccataaccac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M36693 CCDS5265.1, CCDS34564.1 6q25 2008-02-05 ENSG00000112096 ENSG00000112096 6648 1.15.1.1 11180 protein-coding gene gene with protein product 147460 NA Standard NM_000636 NM_000636 NA Approved uc003qsg.3 P04179 OTTHUMG00000015940 ENST00000546087.1:c.115-17906A>T chr6.hg19:g.160131801T>A NA B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3 hg19 0.02 1.041417 ACCxCCA COVERED NOVEL SOD2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399943.1 8 27.851943 KEEP 0 2 61 114 3612 TT 1 0.99994 0 - 5 60 142 0 0 8.19919 86 60 2613 291 ENST00000546087.1 0.054945 0.99994 SLC22A2 6582 __UNKNOWN__ __UNKNOWN__ 6 160665248 160665248 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:160665248T>C ENST00000366953.3 - 7 1323 SLC22A2_ENST00000491092.1_Intron|SLC22A2_ENST00000366952.1_3'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 NA NA body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495) tccctagtagttgggattaca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X98333 CCDS5276.1 6q25.3 2013-05-22 ENSG00000112499 ENSG00000112499 6582 Solute carriers 10966 protein-coding gene gene with protein product 602608 NA 9605850 Standard NM_003058 NM_003058 NA Approved OCT2 uc003qtf.3 O15244 OTTHUMG00000015950 ENST00000366953.3:c.1065-430A>G chr6.hg19:g.160665248T>C NA Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9 hg19 CCDS5276.1 0.02 1.725245 TAGxTGG COVERED NOVEL SLC22A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042943.1 28 17.279299 KEEP 0 1 33 69 2247 TT 1 0.999726 0 - 4 60 131 1 0 8.18918 73 60 2175 221 ENST00000366953.3 0.051948 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 160952375 160952375 __UNKNOWN__ IGR SNP T T C rs537075450 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:160952375T>C NA NA LPAL2 (20219 upstream) : LPA (139 downstream) NA NA NA tgcagcaaactaccatggcac 0.433 NA T||| 1 0.000199681 0 0 5008 , , NA 20501 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.160952375T>C NA hg19 0.02 -0.192887 AACxACC COVERED NOVEL 0 1 2.407138 KEEP 0 0 0 8 244 TT 0.99257 0.454356 0 4 60 120 0 0 9.470209 17 60 464 31 0.190476 0.457757 T 6862 __UNKNOWN__ __UNKNOWN__ 6 166571579 166571579 __UNKNOWN__ 3'UTR SNP T T G rs1056051 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:166571579T>G ENST00000296946.2 - 0 2000 T_ENST00000366871.3_3'UTR NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) NA NA anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GGTTCATCTGTAAGCCACCTG 0.512 NA Chordoma, Familial Clustering of T||| 3980 0.794728 0.8487 0.7305 5008 , , NA 19529 0.8929 NA 0.7157 False NA ,,, NA NA NA 2504 0.7474 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database AJ001699 CCDS5290.1, CCDS59045.1 6q27 2011-06-13 2001-11-28 ENSG00000164458 ENSG00000164458 6862 T-boxes 11515 protein-coding gene gene with protein product 601397 T brachyury (mouse) homolog NA 8963900 Standard NM_003181 NM_003181 NA Approved uc003quu.2 O15178 OTTHUMG00000015991 ENST00000296946.2:c.*224A>C chr6.hg19:g.166571579T>G NA E7ERD6|Q4KMP4 hg19 CCDS5290.1 0.02 -0.40338 CTGxAAG COVERED NOVEL T-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043037.2 1 13.832211 KEEP 0 0 0 46 1360 TT 1 0.934492 0 - 3 60 99 0 0 6.518335 43 60 1209 114 ENST00000296946.2 0.065217 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 168060277 168060277 __UNKNOWN__ IGR SNP T T C rs200979801 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:168060277T>C NA NA TCP10 (262279 upstream) : RP11-351J23.2 (7242 downstream) NA NA NA catacacacatacacacacac 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.168060277T>C NA hg19 0.02 -0.333209 ACAxACA COVERED NOVEL 0 9 8.890184 KEEP 0 2 67 53 1575 TT 1 0.851984 0 3 60 96 0 0 6.549958 33 70 931 105 0.083333 0.851984 RP3-470B24.5 0 __UNKNOWN__ __UNKNOWN__ 6 168377261 168377261 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:168377261T>C ENST00000538528.1 - 0 358 NA NA NA CTGCAGTGTGTTGGGAGGAGG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 9 10 10 NA NA NA 6 NA NA 168377261 685 1579 2264 NA NA NA NA ENST00000538528.1: chr6.hg19:g.168377261T>C NA hg19 0.02 1.845949 GTGxTGG COVERED NOVEL RP3-470B24.5-201 KNOWN basic lincRNA NA lincRNA 4 3.740793 KEEP 1 1 39 26 748 TT 0.999988 0.990952 0 - 14 60 428 0 0 35.568618 44 60 1210 122 ENST00000538528.1 0.241379 0.990964 THBS2 7058 __UNKNOWN__ __UNKNOWN__ 6 169622622 169622622 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr6:169622622A>G ENST00000366787.3 - 20 3251 XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_Intron NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 NA NA cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965) basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) gggagtagtgactcatgcctg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(91;219 1934 18562 44706) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34574.1 6q27 2008-07-28 ENSG00000186340 ENSG00000186340 7058 11786 protein-coding gene gene with protein product 188061 NA 18455130 Standard NM_003247 NM_003247 NA Approved TSP2 uc003qwt.3 P35442 OTTHUMG00000045408 ENST00000366787.3:c.3002-59T>C chr6.hg19:g.169622622A>G NA A6H8N1|A7E232|Q5RI52 hg19 CCDS34574.1 0.02 -0.333197 GTGxCTC COVERED NOVEL THBS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000105439.1 5 19.272163 KEEP 1 1 37 77 2170 AA 1 0.851984 0 - 3 60 95 0 0 6.569166 30 60 825 139 ENST00000366787.3 0.090909 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 385432 385432 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:385432C>T NA NA WI2-2373I1.2 (51044 upstream) : AC226118.1 (33892 downstream) NA NA NA cggtgaaaccccgtctctact 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.385432C>T NA hg19 0.02 -0.35088 ACCxCGT COVERED NOVEL 0 36 3.611516 KEEP 6 0 0 12 407 CC 0.993072 0.871627 0 4 60 121 1 0 8.833759 27 60 894 74 0.129032 0.877708 IQCE 23288 __UNKNOWN__ __UNKNOWN__ 7 2604872 2604872 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:2604872C>T ENST00000402050.2 + 2 220 IQCE_ENST00000404984.1_Intron|IQCE_ENST00000325979.7_Intron|IQCE_ENST00000438376.2_Intron NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E NA NA mitochondrion (GO:0005739) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) agtgtgtgtgcgtgtgtgtgt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136792 CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1 7p22.3 2006-04-12 ENSG00000106012 ENSG00000106012 23288 29171 protein-coding gene gene with protein product NA 10470851 Standard NM_152558 XR_242067 NA Approved KIAA1023 uc003smo.4 Q6IPM2 OTTHUMG00000152047 ENST00000402050.2:c.37-1878C>T chr7.hg19:g.2604872C>T NA Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7 hg19 CCDS43542.1 0.02 3.070138 GTGxGTG COVERED NOVEL IQCE-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000325063.2 34 4.746978 KEEP 0 6 176 78 2553 CC 1 0.999987 0 + 9 60 275 1 0 18.625295 92 60 2855 252 ENST00000402050.2 0.089109 0.999987 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 2712339 2712339 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:2712339A>G NA NA TTYH3 (7903 upstream) : AMZ1 (6816 downstream) NA NA NA tgcccaggctagtctcaaact 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.2712339A>G NA hg19 0.02 -0.280568 GCTxGTC COVERED NOVEL 0 2 3.609244 KEEP 0 0 0 12 362 AA 0.993634 0.734962 0 3 60 95 0 0 6.702672 27 60 758 53 0.1 0.739671 OCM 654231 __UNKNOWN__ __UNKNOWN__ 7 5920331 5920331 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:5920331G>A ENST00000416608.1 + 2 137 P0CE72 ONCO_HUMAN oncomodulin NA NA calcium ion binding (GO:0005509) endometrium(1)|large_intestine(3)|lung(2) 6 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) cggaggttgcggtgagccgag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC069468 CCDS43548.1 7p22.1 2013-01-10 654231 EF-hand domain containing 8105 protein-coding gene gene with protein product oncomodulin 1 164795 NA 1559707, 8354278 Standard NM_001097622 NM_001097622 NA Approved OCM1 uc003spe.4 P0CE72 ENST00000416608.1:c.-3-187G>A chr7.hg19:g.5920331G>A NA B9EJH7|P32930|Q6ISI5|Q75MW0 hg19 CCDS43548.1 0.02 -0.368376 TGCxGTG COVERED NOVEL OCM-002 KNOWN alternative_5_UTR|not_organism_supported|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340373.1 5 9.028279 KEEP 0 0 0 30 991 GG 0.999997 0.909066 0 + 4 60 121 0 0 8.411496 35 60 1107 80 ENST00000416608.1 0.102564 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 6368953 6368953 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:6368953G>A NA NA CYTH3 (56678 upstream) : FAM220A (86 downstream) NA NA NA cagcctgagcgacagagcaag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.6368953G>A NA hg19 0.02 1.482395 AGCxACA COVERED NOVEL 0 2 4.649553 KEEP 0 1 33 27 901 GG 0.999997 0.984158 0 4 60 126 1 1 8.732575 39 60 1173 96 0.093023 0.984161 RAC1 5879 __UNKNOWN__ __UNKNOWN__ 7 6442121 6442121 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:6442121G>T ENST00000348035.4 + 0 836 RAC1_ENST00000356142.4_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) NA NA actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802) enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996) cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Dextromethorphan(DB00514) TGGAACCTTTGTACGCTTTGC 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 17 20 19 NA NA NA 7 NA NA 6442121 2190 4273 6463 SO:0001624 3_prime_UTR_variant AJ132695 CCDS5348.1, CCDS5349.1 7p22 2014-01-30 ENSG00000136238 ENSG00000136238 5879 Endogenous ligands 9801 protein-coding gene gene with protein product 602048 NA 2674130, 10597294 Standard NM_018890 NM_006908 NA Approved TC-25, p21-Rac1, Rac-1 uc003spw.3 P63000 OTTHUMG00000023540 ENST00000348035.4:c.*44G>T chr7.hg19:g.6442121G>T NA O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4 hg19 CCDS5348.1 0.02 0.631396 TTTxTAC COVERED NOVEL RAC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242868.2 24 28.278161 KEEP 34 0 0 94 3262 GG 1 0.999768 0 + 5 58 130 0 0 7.150941 80 60 2683 221 ENST00000348035.4 0.058824 0.999768 CCZ1B 221960 __UNKNOWN__ __UNKNOWN__ 7 6854750 6854750 __UNKNOWN__ Intron SNP G G T rs74296214 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:6854750G>T ENST00000316731.8 - 8 1271 CCZ1B_ENST00000538180.1_Intron NM_198097.3 NP_932765.1 P86790 CCZ1B_HUMAN CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) NA NA lysosome (GO:0005764)|membrane (GO:0016020) NA CTTTTCCAAAGAATTTGAAGC 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC010130 CCDS5354.1 7p22.2 2011-11-24 2011-11-24 2011-11-24 ENSG00000146574 ENSG00000146574 221960 21717 protein-coding gene gene with protein product similar to CGI-43 protein chromosome 7 open reading frame 28B C7orf28B NA 12477932 Standard NM_198097 NM_198097 NA Approved DKFZP586I1023, H_NH0577018.2, MGC19819 uc003sqx.2 P86790 OTTHUMG00000152441 ENST00000316731.8:c.699-274C>A chr7.hg19:g.6854750G>T NA A2RU45|O95766|Q9UG65|Q9Y359 hg19 CCDS5354.1 0.02 -0.096479 AAAxAAT UNCOVERED NOVEL CCZ1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246858.1 2 2.692399 KEEP 0 0 0 9 270 GG 0.99254 0.119538 0 - 6 27 171 0 0 16.668846 5 60 165 31 ENST00000316731.8 0.545455 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 6983572 6983572 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:6983572A>G NA NA AC079804.2 (65309 upstream) : AC079804.1 (51273 downstream) NA NA NA gtgaaaccccatctctactaa 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.6983572A>G NA hg19 0.02 -0.131532 CCCxTCT UNCOVERED NOVEL 0 5 2.404832 KEEP 2 0 0 8 217 AA 0 0 0 3 54 92 0 0 7.582501 10 60 278 27 0.230769 0.229173 SCIN 85477 __UNKNOWN__ __UNKNOWN__ 7 12692467 12692467 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:12692467A>G ENST00000297029.5 + 0 2376 SCIN_ENST00000445618.2_3'UTR|SCIN_ENST00000519209.1_3'UTR NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin NA NA actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234) 1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786) endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) ggtggctcacacctgtaatcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF276507 CCDS47545.1, CCDS47546.1 7p21.3 2006-04-25 ENSG00000006747 ENSG00000006747 85477 21695 protein-coding gene gene with protein product 613416 NA Standard NM_033128 NM_033128 NA Approved adseverin, KIAA1905 uc003ssn.4 Q9Y6U3 OTTHUMG00000152385 ENST00000297029.5:c.*127A>G chr7.hg19:g.12692467A>G NA A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2 hg19 CCDS47545.1 0.02 1.681635 CACxCCT COVERED NOVEL SCIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326041.1 14 15.906293 KEEP 0 2 72 78 2316 AA 1 0.999881 0 + 5 60 167 0 0 10.833347 80 60 2225 228 ENST00000297029.5 0.058824 0.999881 PRPS1L1 221823 __UNKNOWN__ __UNKNOWN__ 7 18067336 18067336 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:18067336C>A ENST00000506618.2 - 1 150 c.70G>T c.(70-72)Ggc>Tgc p.G24C NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 24 NA 5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156) ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) AGCTCCAGGCCCAGGCGGTCA 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 117 120 119 NA NA NA 7 NA NA 18067336 2203 4300 6503 SO:0001583 missense M57423 CCDS47552.1 7p21.1 2010-12-10 ENSG00000229937 ENSG00000229937 221823 9463 protein-coding gene gene with protein product 611566 PRPSL NA 2168892 Standard NM_175886 NM_175886 NA Approved PRPS3 uc003stz.3 P21108 OTTHUMG00000152742 ENST00000506618.2:c.70G>T chr7.hg19:g.18067336C>A ENSP00000424595:p.Gly24Cys NA Q6P5P6 hg19 CCDS47552.1 0.02 1.502624 GGCxCAG COVERED . . . . . . . . . . C 18.49 3.636250 0.67130 . . ENSG00000229937 ENST00000506618 D 0.93133 -3.17 4.27 4.27 0.50696 . . . . . D 0.97343 0.9131 M 0.94142 3.5 . . . D 0.76494 0.999 D 0.69142 0.962 D 0.98676 1.0690 8 0.87932 D 0 . 14.6058 0.68478 0.0:1.0:0.0:0.0 . 24 P21108 PRPS3_HUMAN C 24 ENSP00000424595:G24C ENSP00000424595:G24C G - 1 0 PRPS1L1 18033861 1.000000 0.71417 0.999000 0.59377 0.760000 0.43138 5.141000 0.64814 2.380000 0.81148 0.561000 0.74099 GGC NOVEL PRPS1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327667.1 0 48.748251 KEEP 0 0 0 162 5526 CC 1 0.995084 0 - 36 60 1058 0 0 102.873511 31 60 1029 259 ENST00000506618.2 0.537313 0.995084 PRPS1L1 221823 __UNKNOWN__ __UNKNOWN__ 7 18067337 18067337 __UNKNOWN__ Silent SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:18067337C>T ENST00000506618.2 - 1 149 c.69G>A c.(67-69)ctG>ctA p.L23L NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 23 NA 5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156) ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) GCTCCAGGCCCAGGCGGTCAG 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 114 117 116 NA NA NA 7 NA NA 18067337 2203 4300 6503 SO:0001819 synonymous_variant M57423 CCDS47552.1 7p21.1 2010-12-10 ENSG00000229937 ENSG00000229937 221823 9463 protein-coding gene gene with protein product 611566 PRPSL NA 2168892 Standard NM_175886 NM_175886 NA Approved PRPS3 uc003stz.3 P21108 OTTHUMG00000152742 ENST00000506618.2:c.69G>A chr7.hg19:g.18067337C>T NA Q6P5P6 hg19 CCDS47552.1 0.02 1.287058 GCCxAGG COVERED NOVEL PRPS1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327667.1 0 48.129757 KEEP 0 0 0 160 5513 CC 1 0.996233 0 - 38 60 1052 0 0 102.693669 31 60 1027 260 ENST00000506618.2 0.550725 0.996233 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18300209 18300209 __UNKNOWN__ Intron SNP C C T rs531016075 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:18300209C>T ENST00000417496.2 + 2 386 NM_001204144.1 NP_001191073.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) cccaaagtgccgggattgcag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000417496.2:c.25+98237C>T chr7.hg19:g.18300209C>T NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS56465.1 0.02 1.543922 TGCxGGG COVERED NOVEL HDAC9-005 PUTATIVE basic|CCDS protein_coding NA protein_coding OTTHUMT00000326646.3 4 11.371103 KEEP 0 1 32 49 1673 CC 1 0.963774 0 + 5 60 132 0 0 8.718963 42 60 1401 140 ENST00000417496.2 0.106383 0.963774 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18588611 18588611 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:18588611T>C ENST00000524023.1 + 2 134 HDAC9_ENST00000456174.2_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000432645.2_Intron|HDAC9_ENST00000441542.2_Intron|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000476135.1_Intron|HDAC9_ENST00000406451.4_Intron|HDAC9_ENST00000405010.3_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000401921.1_Intron NM_001204147.1 NP_001191076.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) gcctgtaatctcagcactttg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000524023.1:c.-71-36293T>C chr7.hg19:g.18588611T>C NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS56468.1 0.02 -0.070175 ATCxCAG UNCOVERED NOVEL HDAC9-022 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000376089.1 2 3.009189 KEEP 0 0 0 10 318 TT 0.992708 0.053742 0 + 2 60 71 0 0 6.395786 4 60 124 26 ENST00000524023.1 0.333333 0.054137 ITGB8 3696 __UNKNOWN__ __UNKNOWN__ 7 20445928 20445928 __UNKNOWN__ Intron SNP T T C rs113875793 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:20445928T>C ENST00000222573.4 + 12 2707 ITGB8_ENST00000537992.1_Intron NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 NA NA cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 aatcccagcattttgggaggc 0.512 NA C||| 157 0.0313498 0.093 0.0259 5008 , , NA 17176 0 NA 0.0159 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5370.1 7p15.3 2010-03-23 ENSG00000105855 ENSG00000105855 3696 Integrins 6163 protein-coding gene gene with protein product 604160 NA Standard NM_002214 XM_005249751 NA Approved uc003suu.3 P26012 OTTHUMG00000023594 ENST00000222573.4:c.2023+134T>C chr7.hg19:g.20445928T>C NA A4D133|B4DHD4 hg19 CCDS5370.1 0.02 -0.192946 GCAxTTT COVERED NOVEL ITGB8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059915.3 5 9.328558 KEEP 2 0 0 31 992 TT 0.999997 0.457755 0 + 3 60 96 0 0 7.22808 19 60 561 64 ENST00000222573.4 0.136364 0.457757 ABCB5 340273 __UNKNOWN__ __UNKNOWN__ 7 20691219 20691219 __UNKNOWN__ Silent SNP G G A rs61227829 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:20691219G>A ENST00000404938.2 + 13 2161 c.1509G>A c.(1507-1509)gcG>gcA p.A503A ABCB5_ENST00000258738.6_Silent_p.A58A|ABCB5_ENST00000443026.2_Silent_p.A58A|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000406935.1_Silent_p.A58A NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 503 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AAGCAAATGCGTATGATTTTA 0.443 NA g||| 254 0.0507188 0.028 0.062 5008 , , NA 20710 0 NA 0.1441 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 G ,,, 191,4215 120.8+/-158.4 7,177,2019 264 219 234 NA 1509,174,174,174 -1.6 1 7 dbSNP_129 234 1137,7463 235.1+/-267.8 83,971,3246 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ABCB5 NM_001163941.1,NM_001163942.1,NM_001163993.1,NM_178559.5 ,,, 90,1148,5265 AA,AG,GG NA 13.2209,4.335,10.2107 ,,, 503/1258,58/132,58/127,58/813 20691219 1328,11678 2203 4300 6503 SO:0001819 synonymous_variant U66692 CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1 7p14 2012-03-14 ENSG00000004846 ENSG00000004846 340273 ATP binding cassette transporters / subfamily B 46 protein-coding gene gene with protein product P-glycoprotein ABCB5, ATP-binding cassette protein 611785 NA 8894702, 12960149 Standard NM_178559 NM_001163942 NA Approved EST422562, ABCB5beta, ABCB5alpha uc010kuh.3 Q2M3G0 OTTHUMG00000094789 ENST00000404938.2:c.1509G>A chr7.hg19:g.20691219G>A NA A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1 hg19 CCDS55090.1 0.02 -0.280662 TGCxTAT COVERED NOVEL ABCB5-004 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000326736.2 6 13.542829 KEEP 0 0 0 45 1534 GG 1 0.739671 0 + 5 60 130 0 0 9.367438 27 60 869 80 ENST00000404938.2 0.15625 0.739671 MPP6 51678 __UNKNOWN__ __UNKNOWN__ 7 24728702 24728702 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:24728702A>G ENST00000222644.5 + 0 3342 MPP6_ENST00000396475.2_3'UTR Q99547 MPH6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) NA NA maturation of 5.8S rRNA (GO:0000460) cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634) RNA binding (GO:0003723) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 caaagtgctgagattacaagc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF162130 CCDS5388.1 7p15 2007-08-01 ENSG00000105926 ENSG00000105926 51678 18167 protein-coding gene gene with protein product 606959 NA 10753959, 11311936 Standard NM_016447 NA Approved PALS2, VAM-1, p55T uc003swx.3 Q9NZW5 OTTHUMG00000023507 ENST00000222644.5:c.*1469A>G chr7.hg19:g.24728702A>G NA B2RAF0 hg19 CCDS5388.1 0.02 -0.333297 CTGxGAT COVERED NOVEL MPP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250272.4 5 3.645948 KEEP 0 1 34 24 773 AA 0.999931 0.851925 0 + 3 60 103 0 0 7.248601 33 60 995 80 ENST00000222644.5 0.083333 0.851984 CYCS 54205 __UNKNOWN__ __UNKNOWN__ 7 25159799 25159799 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:25159799A>G ENST00000305786.2 - 0 4008 NM_018947.5 NP_061820.1 P99999 CYC_HUMAN cytochrome c, somatic NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|dephosphorylation (GO:0016311)|intrinsic apoptotic signaling pathway (GO:0097193)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|respiratory chain (GO:0070469) electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506) endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 4 Minocycline(DB01017) ccacctcccaagttcaagtga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M22877 CCDS5393.1 7p21.2 2014-09-17 ENSG00000172115 ENSG00000172115 54205 19986 protein-coding gene gene with protein product 123970 NA 11790791 Standard NM_018947 NA Approved HCS, CYC uc003sxl.3 P99999 OTTHUMG00000128495 ENST00000305786.2:c.*3521T>C chr7.hg19:g.25159799A>G NA A4D166|B2R4I1|P00001|Q6NUR2|Q6NX69|Q96BV4 hg19 CCDS5393.1 0.02 1.727787 CCAxGTT COVERED NOVEL CYCS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250299.2 7 12.369968 KEEP 0 1 37 54 1631 AA 1 0.992926 0 - 5 60 158 0 0 10.873451 51 70 1447 130 ENST00000305786.2 0.089286 0.992926 KIAA0087 9808 __UNKNOWN__ __UNKNOWN__ 7 26572971 26572971 __UNKNOWN__ 3'UTR SNP A A G rs2391284 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:26572971A>G ENST00000242109.3 - 0 4051 Q14695 K0087_HUMAN KIAA0087 NA NA NA CGGTCCCTAGAGCATTAAGTC 0.393 NA A||| 643 0.128395 0.0628 0.1009 5008 , , NA 18503 0.0536 NA 0.164 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC128257 7p15.2 2013-01-16 ENSG00000122548 ENSG00000122548 9808 22191 other unknown NA Standard NR_022006 NR_022006 NA Approved uc003sya.2 Q14695 OTTHUMG00000023321 ENST00000242109.3:c.*3401T>C chr7.hg19:g.26572971A>G NA A1A524|Q75MW1 hg19 0.02 -0.30698 TAGxGCA COVERED NOVEL KIAA0087-088 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000328273.1 3 6.921296 KEEP 0 0 0 23 739 AA 0.999892 0.800159 0 - 3 60 101 0 0 7.087275 32 60 971 77 ENST00000242109.3 0.085714 0.800245 C7orf71 285941 __UNKNOWN__ __UNKNOWN__ 7 26678109 26678109 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:26678109C>T ENST00000409974.3 + 2 66 NM_001145531.1 NP_001139003.1 A4D174 CG071_HUMAN chromosome 7 open reading frame 71 NA NA NA attacccaatcgtaggtatgt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47565.1 7p15.2 2009-09-11 ENSG00000222004 ENSG00000222004 285941 22364 protein-coding gene gene with protein product NA Standard NM_001145531 NM_001145531 NA Approved uc003syb.3 A4D174 OTTHUMG00000152860 ENST00000409974.3:c.-650-5C>T chr7.hg19:g.26678109C>T NA hg19 CCDS47565.1 0.02 -0.157894 AATxGTA COVERED NOVEL C7orf71-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328272.1 2 2.407586 KEEP 0 0 0 8 262 CC 0.99257 0.320408 0 + 3 60 87 0 0 6.692101 14 60 458 35 ENST00000409974.3 0.176471 0.322807 TAX1BP1 8887 __UNKNOWN__ __UNKNOWN__ 7 27836908 27836908 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:27836908G>A ENST00000396319.2 + 12 1726 TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000409980.1_Intron|TAX1BP1_ENST00000265393.6_Intron NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 NA NA apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480) cytosol (GO:0005829) kinase binding (GO:0019900) breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) gagccaccgcgcccggccTAT 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U33821 CCDS5415.1, CCDS43561.1, CCDS56471.1 7p15 2010-08-05 ENSG00000106052 ENSG00000106052 8887 11575 protein-coding gene gene with protein product 605326 NA 10435631 Standard NM_006024 NM_006024 NA Approved TXBP151, CALCOCO3 uc003szl.3 Q86VP1 OTTHUMG00000023377 ENST00000396319.2:c.1638+1070G>A chr7.hg19:g.27836908G>A NA B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88 hg19 CCDS5415.1 0.02 -0.105262 CGCxCCC UNCOVERED NOVEL TAX1BP1-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000214142.1 4 2.407752 KEEP 1 0 0 8 275 GG 0.99257 0.138793 0 + 3 60 85 0 0 7.000936 9 60 305 31 ENST00000396319.2 0.25 0.139832 FKBP9 11328 __UNKNOWN__ __UNKNOWN__ 7 33014253 33014253 __UNKNOWN__ Silent SNP T T C rs200712661 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:33014253T>C ENST00000242209.4 + 2 415 c.246T>C c.(244-246)aaT>aaC p.N82N FKBP9_ENST00000538443.1_Intron|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.N135N NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 82 PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}. NA chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) CCACTTTCAATGTGTTTGTGG 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 146 145 146 NA NA NA 7 NA NA 33014253 2203 4300 6503 SO:0001819 synonymous_variant AF089745 CCDS5439.1, CCDS64622.1, CCDS64623.1 7p11.1 2013-01-10 2002-08-29 ENSG00000122642 ENSG00000122642 11328 EF-hand domain containing 3725 protein-coding gene gene with protein product FK506-binding protein 9 (63 kD) NA 12036304 Standard NM_007270 NM_007270 NA Approved FKBP60, FKBP63 uc003tdh.3 O95302 OTTHUMG00000097847 ENST00000242209.4:c.246T>C chr7.hg19:g.33014253T>C NA B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9 hg19 CCDS5439.1 0.02 1.537797 CAAxGTG COVERED NOVEL FKBP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215137.1 2 12.135232 KEEP 6 3 99 75 2282 TT 1 0.992094 0 + 5 33 150 0 0 9.844911 57 60 1629 186 ENST00000242209.4 0.080645 0.992094 FKBP9 11328 __UNKNOWN__ __UNKNOWN__ 7 33015021 33015021 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:33015021C>T ENST00000242209.4 + 3 726 FKBP9_ENST00000538443.1_Intron|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Intron NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa NA NA chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) AGTGAAATGTCCCATGCATAG 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 44 38 40 NA NA NA 7 NA NA 33015021 2203 4300 6503 SO:0001627 intron_variant AF089745 CCDS5439.1, CCDS64622.1, CCDS64623.1 7p11.1 2013-01-10 2002-08-29 ENSG00000122642 ENSG00000122642 11328 EF-hand domain containing 3725 protein-coding gene gene with protein product FK506-binding protein 9 (63 kD) NA 12036304 Standard NM_007270 NM_007270 NA Approved FKBP60, FKBP63 uc003tdh.3 O95302 OTTHUMG00000097847 ENST00000242209.4:c.557+38C>T chr7.hg19:g.33015021C>T NA B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9 hg19 CCDS5439.1 0.02 -0.377187 TGTxCCA COVERED NOVEL FKBP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215137.1 2 4.749437 KEEP 5 1 29 26 893 CC 0.999957 0.90903 0 + 6 33 170 0 0 12.321022 37 60 1215 94 ENST00000242209.4 0.139535 0.909069 TRGC2 6967 __UNKNOWN__ __UNKNOWN__ 7 38281945 38281945 __UNKNOWN__ RNA SNP A A G rs559657279 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:38281945A>G ENST00000436911.2 - 0 426 P03986 TRGC2_HUMAN T cell receptor gamma constant 2 NA NA immune response (GO:0006955)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887) transmembrane signaling receptor activity (GO:0004888) NA gagccaccgcacccggccCAT 0.512 NA -||| 2 0.000399361 0.0015 0 5008 , , NA 15306 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA M15002 7p14 2012-02-07 ENSG00000227191 ENSG00000227191 6967 T cell receptors / TRG locus 12276 other T cell receptor gene T-cell receptor, gamma, constant region C2 615450 TCRGC2 NA 3458221 Standard NG_001336 NG_001336 NA Approved TRGC2(2X), TRGC2(3X) P03986 OTTHUMG00000155215 ENST00000436911.2: chr7.hg19:g.38281945A>G NA hg19 0.02 3.786249 CGCxCCC COVERED NOVEL TRGC2-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal TR_C_gene NA TR_C_gene OTTHUMT00000338821.2 10 14.179391 KEEP 5 4 137 95 2925 AA 1 0.999995 0 - 5 60 173 0 0 10.940385 101 60 2963 312 ENST00000436911.2 0.04717 0.999995 AMPH 273 __UNKNOWN__ __UNKNOWN__ 7 38424039 38424039 __UNKNOWN__ 3'UTR SNP A A G rs2072505 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:38424039A>G ENST00000356264.2 - 0 2683 AMPH_ENST00000325590.5_3'UTR|AMPH_ENST00000428293.2_3'UTR NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin NA NA endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021) phospholipid binding (GO:0005543) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 ATAATCTTGTACTACAGGATA 0.418 NA A||| 954 0.190495 0.233 0.2147 5008 , , NA 19776 0.1607 NA 0.2117 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5456.1, CCDS47574.1 7p14-p13 2007-06-19 2007-06-19 ENSG00000078053 ENSG00000078053 273 471 protein-coding gene gene with protein product 600418 amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen) NA 8245793 Standard NM_001635 NM_139316 NA Approved uc003tgu.3 P49418 OTTHUMG00000023725 ENST00000356264.2:c.*380T>C chr7.hg19:g.38424039A>G NA A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0 hg19 CCDS5456.1 0.02 -0.254302 TGTxCTA COVERED NOVEL AMPH-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000226953.2 0 6.920159 KEEP 0 0 0 23 695 AA 0.999892 0.668451 0 - 3 60 98 0 0 7.044692 26 60 723 68 ENST00000356264.2 0.103448 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 39874220 39874220 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:39874220C>T NA NA LINC00265 (41529 upstream) : RN7SL496P (53751 downstream) NA NA NA ATTAGCAATCCTCCAGGCACC 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.39874220C>T NA hg19 0.02 -0.149081 ATCxTCC COVERED NOVEL 0 1 4.81526 KEEP 0 0 0 16 552 CC 0.997832 0.291368 0 4 25 107 0 0 8.581396 13 60 409 35 0.235294 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 39874323 39874323 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:39874323C>T NA NA LINC00265 (41632 upstream) : RN7SL496P (53648 downstream) NA NA NA TGTGATCCCCCCTTCTCCGAG 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.39874323C>T NA hg19 0.02 -0.350825 CCCxCTT COVERED NOVEL 0 1 5.718288 KEEP 4 0 0 19 663 CC 0.99986 0.877585 0 4 25 123 0 0 8.658595 34 60 1140 95 0.105263 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 39874331 39874331 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:39874331G>A NA NA LINC00265 (41640 upstream) : RN7SL496P (53640 downstream) NA NA NA CCCCTTCTCCGAGACGCTGAG 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.39874331G>A NA hg19 0.02 -0.342063 TCCxAGA COVERED NOVEL 0 1 5.116563 KEEP 4 0 0 17 592 GG 0.999366 0.865197 0 4 25 107 0 0 7.111077 33 60 1088 85 0.108108 0.865745 CDK13 8621 __UNKNOWN__ __UNKNOWN__ 7 40092055 40092055 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:40092055T>C ENST00000181839.4 + 7 3205 CDK13_ENST00000484589.1_Intron|CDK13_ENST00000340829.5_Intron NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 NA NA alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032) cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607) ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 ggattacaggtgtgagccact 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M80629 CCDS5461.1, CCDS5462.1 7p14.1 2011-11-08 2009-12-16 2009-12-16 ENSG00000065883 ENSG00000065883 8621 Cyclin-dependent kinases 1733 protein-coding gene gene with protein product cholinesterase-related cell division controller 603309 cell division cycle 2-like 5 (cholinesterase-related cell division controller) CDC2L5 NA 1731328, 19884882 Standard NM_003718 NM_003718 NA Approved CHED, CDC2L, KIAA1791 uc003thh.4 Q14004 OTTHUMG00000023726 ENST00000181839.4:c.2600+4579T>C chr7.hg19:g.40092055T>C NA Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4 hg19 CCDS5461.1 0.02 -0.035089 AGGxGTG UNCOVERED NOVEL CDK13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250726.2 3 2.4073 KEEP 0 0 0 8 251 TT 0.99257 0.019833 0 + 2 60 68 0 0 6.550122 2 60 62 20 ENST00000181839.4 0.5 0.019982 NPC1L1 29881 __UNKNOWN__ __UNKNOWN__ 7 44561884 44561884 __UNKNOWN__ Intron SNP C C T rs4720470 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:44561884C>T ENST00000381160.3 - 11 2693 NPC1L1_ENST00000546276.1_Intron|NPC1L1_ENST00000289547.4_Intron NM_001101648.1 NP_001095118.1 Q9UHC9 NPCL1_HUMAN NPC1-like 1 NA NA cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918) brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TCGCTATGCACACCCCTAAAG 0.522 NA C||| 612 0.122204 0.0272 0.0706 5008 , , NA 23169 0.3244 NA 0.0666 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 C , 132,4272 3,126,2073 29 28 28 NA , 0.5 0 7 dbSNP_111 28 467,8133 15,437,3848 no intron,intron NPC1L1 NM_001101648.1,NM_013389.2 , 18,563,5921 TT,TC,CC NA 5.4302,2.9973,4.6063 , , 44561884 599,12405 2202 4300 6502 SO:0001627 intron_variant CCDS5491.1, CCDS43575.1, CCDS75587.1 7p13 2012-11-15 2012-11-15 ENSG00000015520 ENSG00000015520 29881 7898 protein-coding gene gene with protein product 608010 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 NA 10783261 Standard NM_013389 NM_013389 NA Approved uc003tlb.3 Q9UHC9 OTTHUMG00000023691 ENST00000381160.3:c.2638-43G>A chr7.hg19:g.44561884C>T NA A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8 hg19 CCDS43575.1 0.02 -0.219297 GCAxACC COVERED NOVEL NPC1L1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339390.1 1 8.120125 KEEP 0 0 0 27 904 CC 0.999988 0.552881 0 - 3 60 91 0 0 6.549564 22 60 731 67 ENST00000381160.3 0.12 0.552887 TMED4 222068 __UNKNOWN__ __UNKNOWN__ 7 44619816 44619816 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:44619816G>A ENST00000289577.5 - 4 468 TMED4_ENST00000457408.2_Intron|TMED4_ENST00000481238.1_3'UTR Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) signal transducer activity (GO:0004871) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 agtggctcacgcctgtaatcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035467 CCDS5493.1 7p13 2004-12-21 ENSG00000158604 ENSG00000158604 222068 22301 protein-coding gene gene with protein product 612038 NA 12761501 Standard NM_182547 NM_182547 NA Approved HNLF uc003tli.3 Q7Z7H5 OTTHUMG00000129210 ENST00000289577.5:c.388-589C>T chr7.hg19:g.44619816G>A NA A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6 hg19 0.02 1.004114 CACxCCT COVERED NOVEL TMED4-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339388.1 10 30.784664 KEEP 1 1 33 114 3974 GG 1 0.999862 0 - 6 60 169 0 0 10.455308 76 60 2503 280 ENST00000289577.5 0.073171 0.999862 TMED4 222068 __UNKNOWN__ __UNKNOWN__ 7 44620505 44620505 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:44620505G>C ENST00000289577.5 - 3 468 TMED4_ENST00000457408.2_Intron|TMED4_ENST00000481238.1_3'UTR Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) signal transducer activity (GO:0004871) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 caagatcatggcattgcactc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035467 CCDS5493.1 7p13 2004-12-21 ENSG00000158604 ENSG00000158604 222068 22301 protein-coding gene gene with protein product 612038 NA 12761501 Standard NM_182547 NM_182547 NA Approved HNLF uc003tli.3 Q7Z7H5 OTTHUMG00000129210 ENST00000289577.5:c.387+542C>G chr7.hg19:g.44620505G>C NA A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6 hg19 0.02 3.853642 ATGxCAT COVERED NOVEL TMED4-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339388.1 19 27.532228 KEEP 1 2 70 116 4087 GG 1 1 0 - 5 60 179 0 0 11.338367 111 60 3814 330 ENST00000289577.5 0.043103 1 TMED4 222068 __UNKNOWN__ __UNKNOWN__ 7 44620520 44620520 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:44620520A>C ENST00000289577.5 - 3 468 TMED4_ENST00000457408.2_Intron|TMED4_ENST00000481238.1_3'UTR Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) signal transducer activity (GO:0004871) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 gcactccagcatgggcaacaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035467 CCDS5493.1 7p13 2004-12-21 ENSG00000158604 ENSG00000158604 222068 22301 protein-coding gene gene with protein product 612038 NA 12761501 Standard NM_182547 NM_182547 NA Approved HNLF uc003tli.3 Q7Z7H5 OTTHUMG00000129210 ENST00000289577.5:c.387+527T>G chr7.hg19:g.44620520A>C NA A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6 hg19 0.02 6.061391 AGCxTGG COVERED NOVEL TMED4-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339388.1 26 6.715294 KEEP 1 9 332 138 4311 AA 1 1 0 - 10 60 355 0 0 24.599862 131 60 3927 419 ENST00000289577.5 0.070922 1 OGDH 4967 __UNKNOWN__ __UNKNOWN__ 7 44715887 44715887 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:44715887T>G ENST00000449767.1 + 9 1284 OGDH_ENST00000222673.5_Intron|OGDH_ENST00000443864.2_3'UTR|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000444676.1_Intron|OGDH_ENST00000543843.1_Intron NM_001165036.1 NP_001158508.1 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) NA NA 2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252) metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 Valproic Acid(DB00313) gggcgcagtgtctcacgcctg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D10523 CCDS34627.1, CCDS47580.1, CCDS55107.1 7p13-p11.2 2010-11-23 ENSG00000105953 ENSG00000105953 4967 1.2.4.2 8124 protein-coding gene gene with protein product 613022 NA 8020988, 1542694 Standard NM_002541 NA Approved E1k uc003tln.3 Q02218 OTTHUMG00000155304 ENST00000449767.1:c.1194+139T>G chr7.hg19:g.44715887T>G NA B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0 hg19 CCDS55107.1 0.02 1.760258 GTGxCTC COVERED NOVEL OGDH-002 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000339392.1 3 27.081782 KEEP 0 0 0 90 2855 TT 1 0.999487 0 + 5 60 171 0 0 11.423663 73 60 2203 211 ENST00000449767.1 0.064103 0.999487 H2AFV 94239 __UNKNOWN__ __UNKNOWN__ 7 44874652 44874652 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:44874652A>G ENST00000308153.4 - 4 417 H2AFV_ENST00000350771.3_Intron|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000446531.1_3'UTR|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000521529.1_Intron NM_012412.4 NP_036544.1 Q71UI9 H2AV_HUMAN H2A histone family, member V NA NA extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 9 caaagtgctgagattacaggt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF081192 CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1 7p13 2011-01-27 2004-03-26 ENSG00000105968 ENSG00000105968 94239 Histones / Replication-independent 20664 protein-coding gene gene with protein product H2AV NA Standard NM_012412 NM_012412 NA Approved MGC10170, MGC10831, MGC1947 uc003tma.2 Q71UI9 OTTHUMG00000129217 ENST00000308153.4:c.325+475T>C chr7.hg19:g.44874652A>G NA A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98 hg19 CCDS5496.1 0.02 -0.280654 CTGxGAT COVERED NOVEL H2AFV-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251305.1 5 3.946323 KEEP 0 1 34 25 778 AA 0.999957 0.73964 0 - 4 60 127 0 0 9.623384 24 60 720 69 ENST00000308153.4 0.142857 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 45860880 45860880 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:45860880T>C NA NA RP11-638I8.1 (6018 upstream) : RNU6-326P (22352 downstream) NA NA NA gcctgtaatctcagcactgtg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.45860880T>C NA hg19 0.02 1.853612 ATCxCAG COVERED NOVEL 0 7 9.616483 KEEP 15 0 0 32 995 TT 0.999997 0.98954 0 4 47 134 0 0 9.053838 52 48 1520 124 0.071429 0.989542 TNS3 64759 __UNKNOWN__ __UNKNOWN__ 7 47444250 47444250 __UNKNOWN__ Intron SNP G G A rs13225337 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:47444250G>A ENST00000398879.1 - 14 1090 TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Intron|TNS3_ENST00000442536.2_Intron Q68CZ2 TENS3_HUMAN tensin 3 NA NA cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 ttgggaggccgaggcaggcgg 0.512 NA G||| 2049 0.409145 0.1014 0.5764 5008 , , NA 12841 0.501 NA 0.5099 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759 SH2 domain containing 21616 protein-coding gene gene with protein product tumor endothelial marker 6 606825 tensin-like SH2 domain-containing 1 TENS1 NA 11559528 Standard NM_022748 NM_022748 NA Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.724-3739C>T chr7.hg19:g.47444250G>A NA B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 hg19 CCDS5506.2 0.02 -0.210503 GCCxAGG UNCOVERED NOVEL TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157253.1 2 2.372941 KEEP 1 0 0 8 240 GG 0 0 0 - 6 60 167 0 0 13.829634 17 60 563 46 ENST00000398879.1 0.26087 0.522161 TNS3 64759 __UNKNOWN__ __UNKNOWN__ 7 47467887 47467887 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:47467887G>C ENST00000398879.1 - 9 756 TNS3_ENST00000355730.3_Intron|TNS3_ENST00000458317.2_Intron|TNS3_ENST00000311160.9_Intron|TNS3_ENST00000442536.2_Intron Q68CZ2 TENS3_HUMAN tensin 3 NA NA cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CCTCAAGACAGCGAGCTGACA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 84 84 84 NA NA NA 7 NA NA 47467887 2092 4232 6324 SO:0001627 intron_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759 SH2 domain containing 21616 protein-coding gene gene with protein product tumor endothelial marker 6 606825 tensin-like SH2 domain-containing 1 TENS1 NA 11559528 Standard NM_022748 NM_022748 NA Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.389+22C>G chr7.hg19:g.47467887G>C NA B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 hg19 CCDS5506.2 0.02 -0.411781 ACAxCGA COVERED NOVEL TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157253.1 3 5.116906 KEEP 0 0 0 17 626 GG 0.999859 0.941609 0 - 19 60 601 0 0 55.382447 28 60 929 74 ENST00000398879.1 0.404255 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 47707378 47707378 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:47707378T>C NA NA C7orf65 (6132 upstream) : LINC00525 (93695 downstream) NA NA NA gcctgtaatctcagcactttg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.47707378T>C NA hg19 0.02 -0.166639 ATCxCAG COVERED NOVEL 0 2 2.407536 KEEP 0 0 0 8 262 TT 0.99257 0.384528 0 4 60 126 0 0 10.368638 14 60 423 43 0.222222 0.387407 EGFR 1956 __UNKNOWN__ __UNKNOWN__ 7 55259763 55259763 __UNKNOWN__ Intron SNP A A G rs6970262 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:55259763A>G ENST00000455089.1 + 20 2747 EGFR_ENST00000275493.2_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Intron P00533 EGFR_HUMAN epidermal growth factor receptor NA NA activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294) CTTTGGGAACAGTACTTGCTG 0.522 8 A, O, Mis glioma, NSCLC NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) g||| 3735 0.745807 0.6611 0.7061 5008 , , NA 20647 0.87 NA 0.6392 False NA ,,, NA NA NA 2504 0.8701 NA NA NA yes Dom yes Familial lung cancer 7 7p12.3-p12.1 1956 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) E, O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1 7p12 2014-09-17 2010-06-25 ENSG00000146648 ENSG00000146648 1956 3236 protein-coding gene gene with protein product erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) 131550 epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) ERBB NA 1505215 Standard NM_005228 NM_201282 NA Approved ERBB1 uc003tqk.3 P00533 OTTHUMG00000023661 ENST00000455089.1:c.2490+196A>G chr7.hg19:g.55259763A>G NA O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5 hg19 0.02 -0.017542 AACxGTA UNCOVERED NOVEL EGFR-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000343056.1 4 2.707569 KEEP 0 0 0 9 264 AA 0.99254 0 0 + 2 60 61 0 0 7.053421 0 0 0 10 ENST00000455089.1 1 0 EGFR 1956 __UNKNOWN__ __UNKNOWN__ 7 55270648 55270648 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:55270648A>G ENST00000455089.1 + 0 3723 EGFR_ENST00000275493.2_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Intron P00533 EGFR_HUMAN epidermal growth factor receptor NA NA activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294) gtgtgtgtgtatgtgtgtgtt 0.353 8 A, O, Mis glioma, NSCLC NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Dom yes Familial lung cancer 7 7p12.3-p12.1 1956 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) E, O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1 7p12 2014-09-17 2010-06-25 ENSG00000146648 ENSG00000146648 1956 3236 protein-coding gene gene with protein product erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) 131550 epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) ERBB NA 1505215 Standard NM_005228 NM_201282 NA Approved ERBB1 uc003tqk.3 P00533 OTTHUMG00000023661 ENST00000455089.1:c.*190A>G chr7.hg19:g.55270648A>G NA O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5 hg19 0.02 1.853659 TGTxTGT COVERED NOVEL EGFR-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000343056.1 21 8.725591 KEEP 0 0 0 29 886 AA 0.999997 0.98954 0 + 6 60 203 1 1 14.885035 50 60 1425 134 ENST00000455089.1 0.107143 0.989542 FKBP9L 0 __UNKNOWN__ __UNKNOWN__ 7 55749372 55749372 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:55749372C>T ENST00000455909.1 - 0 1845 NR_027340.1|NR_027342.1 Q75LS8 FKB9L_HUMAN NA NA protein folding (GO:0006457) calcium ion binding (GO:0005509) endometrium(1)|kidney(1)|lung(3) 5 ccatcctggccaacacggtga 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000455909.1: chr7.hg19:g.55749372C>T NA B2R7H1 hg19 0.02 -0.429795 GGCxAAC COVERED NOVEL FKBP9L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000251473.2 5 3.443332 KEEP 0 1 27 21 710 CC 0.999879 0.954375 0 - 4 60 104 1 0 6.419698 42 60 1392 82 ENST00000455909.1 0.086957 0.954491 SEPT14 346288 __UNKNOWN__ __UNKNOWN__ 7 55862623 55862623 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:55862623T>C ENST00000388975.3 - 0 2398 NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 NA NA cell cycle (GO:0007049)|cell division (GO:0051301) septin complex (GO:0031105) GTP binding (GO:0005525) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ggattacaggtgtgagccacc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126048 CCDS5519.2 7p11.2 2013-01-21 ENSG00000154997 ENSG00000154997 346288 Septins 33280 protein-coding gene gene with protein product 612140 NA Standard NM_207366 NM_207366 NA Approved FLJ44060 uc003tqz.2 Q6ZU15 OTTHUMG00000129341 ENST00000388975.3:c.*983A>G chr7.hg19:g.55862623T>C NA A6NCC2|B4DXD6 hg19 CCDS5519.2 0.02 5.906167 AGGxGTG COVERED NOVEL SEPT14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251489.2 28 8.754612 KEEP 0 4 146 80 2359 TT 1 1 0 - 7 60 233 2 0 14.696848 128 60 3763 337 ENST00000388975.3 0.051852 1 MRPS17 51373 __UNKNOWN__ __UNKNOWN__ 7 56008100 56008100 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:56008100G>A ENST00000426595.1 + 7 1261 ZNF713_ENST00000429591.2_3'UTR Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763) rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) tacaggcgtgggccactgcgc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051352 CCDS5520.1 7p11-q11.21 2012-09-13 ENSG00000239789 ENSG00000239789 51373 Mitochondrial ribosomal proteins / small subunits 14047 protein-coding gene gene with protein product 28S ribosomal protein S17, mitochondrial 611980 NA 11279123 Standard NM_015969 NM_015969 NA Approved HSPC011, RPMS17, MRP-S17 uc003trd.3 Q9Y2R5 OTTHUMG00000023153 ENST00000426595.1:c.269-12772G>A chr7.hg19:g.56008100G>A NA Q86X15 hg19 0.02 1.467512 GTGxGCC COVERED NOVEL MRPS17-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000363286.1 11 6.452529 KEEP 0 1 27 31 1056 GG 0.999997 0.99716 0 + 6 60 178 1 0 11.898286 61 60 2004 140 ENST00000426595.1 0.089552 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56441192 56441192 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:56441192G>C NA NA RNU6-1335P (33162 upstream) : RNU6-1052P (28570 downstream) NA NA NA CTGGGCAGGAGTTGAGCCCAA 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56441192G>C NA hg19 0.02 1.816107 GGAxTTG COVERED NOVEL 0 3 4.213789 KEEP 18 0 0 14 497 GG 0.994391 0.99416 0 4 47 136 0 0 8.447183 84 48 2820 163 0.045455 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56707378 56707378 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:56707378A>G NA NA RP11-760D2.5 (101555 upstream) : RP13-580B18.1 (235699 downstream) NA NA NA CATTTGTAGGATTTCTCTCCA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56707378A>G NA hg19 0.02 -0.175383 AGGxTTT COVERED NOVEL 0 2 4.513939 KEEP 0 0 0 15 488 AA 0.99649 0.386047 0 3 60 91 0 0 6.861893 17 60 486 39 0.15 0.387407 ZNF479 90827 __UNKNOWN__ __UNKNOWN__ 7 57187725 57187725 __UNKNOWN__ Missense_Mutation SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:57187725G>T ENST00000331162.4 - 5 1667 c.1397C>A c.(1396-1398)aCa>aAa p.T466K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 466 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATGTGTAGGGTCT 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 61 62 61 NA NA NA 7 NA NA 57187725 2091 4234 6325 SO:0001583 missense AF277624 CCDS43590.1 7p11.2 2013-01-08 ENSG00000185177 ENSG00000185177 90827 Zinc fingers, C2H2-type, - 23258 protein-coding gene gene with protein product NA 11410164 Standard XM_291202 NM_033273 NA Approved KR19 uc010kzo.3 Q96JC4 OTTHUMG00000156682 ENST00000331162.4:c.1397C>A chr7.hg19:g.57187725G>T ENSP00000333776:p.Thr466Lys NA hg19 CCDS43590.1 0.02 1.039179 CATxTGT COVERED . . . . . . . . . . t 0 -2.806322 0.00074 . . ENSG00000185177 ENST00000331162 T 0.20738 2.05 0.955 -1.78 0.07957 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.04907 0.0132 N 0.01267 -0.92 0.09310 N 1 B 0.06786 0.001 B 0.10450 0.005 T 0.35699 -0.9778 9 0.02654 T 1 . 5.6195 0.17450 0.0:0.0:0.5844:0.4156 . 466 Q96JC4 ZN479_HUMAN K 466 ENSP00000333776:T466K ENSP00000333776:T466K T - 2 0 ZNF479 57191667 0.000000 0.05858 0.065000 0.19835 0.062000 0.15995 -1.024000 0.03603 -0.948000 0.03668 -0.940000 0.02684 ACA NOVEL ZNF479-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345302.1 11 8.362569 KEEP 5 1 32 39 1394 GG 1 0.999678 0 - 5 43 139 0 0 8.179377 75 49 2507 173 ENST00000331162.4 0.0625 0.999678 ZNF716 441234 __UNKNOWN__ __UNKNOWN__ 7 57532453 57532453 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:57532453A>G ENST00000420713.1 + 0 4398 NM_001159279.1 NP_001152751.1 A6NP11 ZN716_HUMAN zinc finger protein 716 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|kidney(1)|lung(20)|ovary(2) 24 gattacaggcatgagccacca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131575 CCDS55112.1 7p11.1 2013-01-08 ENSG00000182111 ENSG00000182111 441234 Zinc fingers, C2H2-type, - 32458 protein-coding gene gene with protein product NA Standard NM_001159279 NM_001159279 NA Approved FLJ46189 uc011kdi.1 A6NP11 OTTHUMG00000156689 ENST00000420713.1:c.*2798A>G chr7.hg19:g.57532453A>G NA hg19 CCDS55112.1 0.02 -0.359437 GGCxTGA COVERED NOVEL ZNF716-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345309.1 6 3.009047 KEEP 0 0 0 10 309 AA 0.992708 0.892756 0 + 3 60 100 0 0 6.840451 36 60 1069 69 ENST00000420713.1 0.076923 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 57624667 57624667 __UNKNOWN__ IGR SNP C C T rs201814359 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:57624667C>T NA NA ZNF716 (91415 upstream) : RP11-368M16.3 (65119 downstream) NA NA NA gagttcaagactagcctgacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.57624667C>T NA hg19 0.02 -0.22807 AGAxTAG COVERED NOVEL 0 10 3.611788 KEEP 0 0 0 12 432 CC 0.993634 0.579219 0 8 49 239 0 0 21.453018 14 60 478 47 0.363636 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968044 61968044 __UNKNOWN__ IGR SNP A A C rs199764358 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61968044A>C NA NA None (None upstream) : RNU6-417P (503796 downstream) NA NA NA gtgtgcgttcaactcacagag 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61968044A>C NA hg19 0.02 1.92139 TTCxACT COVERED NOVEL 0 27 4.850484 KEEP 57 1 37 29 905 AA 0.999863 0.998559 0 12 46 413 1 0 33.266861 56 47 1650 271 0.176471 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968103 61968103 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61968103G>C NA NA None (None upstream) : RNU6-417P (503737 downstream) NA NA NA tgtttgtaaagtctgcaagtg 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61968103G>C NA hg19 0.02 1.599192 AAAxTCT COVERED NOVEL 0 31 9.029724 KEEP 38 0 0 30 1092 GG 0.999879 0.999714 0 6 46 205 0 0 14.215132 71 50 2465 235 0.077922 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968931 61968931 __UNKNOWN__ IGR SNP T T A rs74187916|rs9719188 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61968931T>A NA NA None (None upstream) : RNU6-417P (502909 downstream) NA NA NA tagagcagtttggaaacactc 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61968931T>A NA hg19 0.02 17.906461 GTTxGGA COVERED NOVEL 0 121 48.815548 KEEP 26 17 523 346 10740 TT 1 1 0 21 60 593 1 0 30.452126 546 60 15805 1502 0.037037 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969246 61969246 __UNKNOWN__ IGR SNP T T C rs3919786 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61969246T>C NA NA None (None upstream) : RNU6-417P (502594 downstream) NA NA NA tcacagagtttaacctttctt 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969246T>C NA hg19 0.02 22.514128 GTTxAAC COVERED NOVEL 0 96 9.013411 KEEP 25 23 805 311 9311 TT 1 1 0 43 60 1443 1 1 99.878032 492 60 13501 1384 0.080374 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969268 61969268 __UNKNOWN__ IGR SNP G G C rs71204446|rs4275109 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61969268G>C NA NA None (None upstream) : RNU6-417P (502572 downstream) NA NA NA tcttagagcagtttagaaaca 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969268G>C NA hg19 0.02 25.049343 GCAxTTT COVERED NOVEL 0 95 38.160741 KEEP 18 15 543 316 11326 GG 1 1 0 24 60 811 0 0 49.07786 562 60 19057 1411 0.040956 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969291 61969291 __UNKNOWN__ IGR SNP T T C rs9654817|rs74213713 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61969291T>C NA NA None (None upstream) : RNU6-417P (502549 downstream) NA NA NA ctgcttgttatgtctgcaagt 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969291T>C NA hg19 0.02 23.829889 TTAxGTC COVERED NOVEL 0 84 17.961601 KEEP 20 18 590 266 8310 TT 1 1 0 38 60 1188 2 0 76.712104 521 60 15321 1347 0.067979 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969600 61969600 __UNKNOWN__ IGR SNP T T C rs3919785 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61969600T>C NA NA None (None upstream) : RNU6-417P (502240 downstream) NA NA NA acctttcttttcatagaggag 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969600T>C NA hg19 0.02 6.910819 TTTxCAT COVERED NOVEL 0 34 21.871523 KEEP 101 6 216 148 4698 TT 1 1 0 9 60 298 1 0 18.351038 182 60 5480 629 0.04712 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969634 61969634 __UNKNOWN__ IGR SNP G G C rs67619083|rs2167824|rs67355428|rs71271567|rs61713650|rs375796519 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61969634G>C NA NA None (None upstream) : RNU6-417P (502206 downstream) NA NA NA tgtttgtaaagtctgcaagtg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969634G>C NA hg19 0.02 3.713292 AAAxTCT COVERED NOVEL 0 21 16.522966 KEEP 96 2 72 80 2768 GG 1 0.999993 0 9 40 305 1 0 21.916378 85 52 2730 346 0.095745 0.999993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970250 61970250 __UNKNOWN__ IGR SNP C C T rs4302707 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61970250C>T NA NA None (None upstream) : RNU6-417P (501590 downstream) NA NA NA gtgatgtgtgcgttcaactca 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61970250C>T NA hg19 0.02 3.063903 GTGxGTT COVERED NOVEL 0 21 8.360128 KEEP 57 4 108 66 2280 CC 1 0.999998 0 5 47 154 0 0 9.40929 85 49 2764 307 0.055556 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970255 61970255 __UNKNOWN__ IGR SNP A A C rs2167825 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61970255A>C NA NA None (None upstream) : RNU6-417P (501585 downstream) NA NA NA gtgtgcgttcaactcacagag 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61970255A>C NA hg19 0.02 3.681417 TTCxACT COVERED NOVEL 0 25 6.458551 KEEP 62 4 145 72 2252 AA 1 0.999999 0 10 49 307 0 0 21.751171 84 50 2502 335 0.106383 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970280 61970280 __UNKNOWN__ IGR SNP T T C rs4358676 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61970280T>C NA NA None (None upstream) : RNU6-417P (501560 downstream) NA NA NA acctttcttttcatagaggag 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61970280T>C NA hg19 0.02 5.356428 TTTxCAT COVERED NOVEL 0 36 5.453769 KEEP 83 7 240 102 3116 TT 1 1 0 14 60 447 0 1 30.688738 149 60 4236 517 0.08589 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970349 61970349 __UNKNOWN__ IGR SNP T T C rs4320428 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61970349T>C NA NA None (None upstream) : RNU6-417P (501491 downstream) NA NA NA tttgaggccttcgttggaaac 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61970349T>C NA hg19 0.02 17.768954 CCTxCGT COVERED NOVEL 0 88 28.497394 KEEP 74 12 422 242 7475 TT 1 1 0 14 60 452 1 0 24.909019 431 60 12303 1166 0.031461 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970351 61970351 __UNKNOWN__ IGR SNP G G T rs4311554 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61970351G>T NA NA None (None upstream) : RNU6-417P (501489 downstream) NA NA NA tgaggccttcgttggaaacgg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61970351G>T NA hg19 0.02 14.772875 TTCxTTG COVERED NOVEL 0 88 34.084964 KEEP 72 11 346 235 7827 GG 1 1 0 14 60 428 1 0 22.545931 429 60 13860 1170 0.031603 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970376 61970376 __UNKNOWN__ IGR SNP A A C rs4294067|rs74439406 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61970376A>C NA NA None (None upstream) : RNU6-417P (501464 downstream) NA NA NA tcttcattgaatgctagacgg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61970376A>C NA hg19 0.02 21.143094 TGAxTGC COVERED NOVEL 0 98 59.869836 KEEP 50 6 215 274 8776 AA 1 1 0 17 60 556 1 0 32.083347 483 60 14435 1302 0.034 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970385 61970385 __UNKNOWN__ IGR SNP G G A rs4318951 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:61970385G>A NA NA None (None upstream) : RNU6-417P (501455 downstream) NA NA NA aatgctagacggaagaattct 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61970385G>A NA hg19 0.02 18.720112 GACxGAA COVERED NOVEL 0 108 41.434828 KEEP 45 13 408 281 9433 GG 1 1 0 20 60 581 1 2 30.497964 527 60 16769 1392 0.036563 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 62948372 62948372 __UNKNOWN__ IGR SNP T T C rs536703 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:62948372T>C NA NA RP11-340I6.3 (65948 upstream) : RN7SL855P (123450 downstream) NA NA NA ttgcttgaattcatgagtttg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.62948372T>C NA hg19 0.02 -0.192918 AATxCAT COVERED NOVEL 0 8 3.008705 KEEP 1 0 0 10 307 TT 0.99254 0.454342 0 5 49 157 0 0 13.613702 12 50 351 43 0.294118 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 63019489 63019489 __UNKNOWN__ IGR SNP G G A rs200620330 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:63019489G>A NA NA RP11-340I6.3 (137065 upstream) : RN7SL855P (52333 downstream) NA NA NA TGCCCTGCCCGGTGTCGGGGG 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.63019489G>A NA hg19 0.02 -0.245614 CCCxGTG UNCOVERED NOVEL 0 0 2.407707 KEEP 17 0 0 8 276 GG 0 0 0 6 49 186 0 0 15.145535 22 50 724 75 0.214286 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 63219140 63219140 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:63219140G>A NA NA MIR4283-2 (137593 upstream) : RP11-340I6.7 (129437 downstream) NA NA NA GCCTCCCGGCGTCCTCTCCGG 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.63219140G>A NA hg19 0.02 4.253851 GGCxTCC COVERED NOVEL 0 0 4.213593 KEEP 24 0 0 14 490 GG 0.994391 0.994391 0 8 41 234 0 0 13.675441 142 47 4629 311 0.053333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 64126031 64126031 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:64126031C>T NA NA ZNF680 (102547 upstream) : ZNF107 (544 downstream) NA NA NA cgtgagccaccgcgcctggcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.64126031C>T NA hg19 0.02 -0.228027 CACxGCG COVERED NOVEL 0 2 3.009699 KEEP 2 0 0 10 344 CC 0.992708 0.578679 0 4 60 112 0 0 8.337784 21 60 664 57 0.16 0.58293 ZNF273 10793 __UNKNOWN__ __UNKNOWN__ 7 64378780 64378780 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:64378780T>C ENST00000476120.1 + 3 396 ZNF273_ENST00000527278.1_Intron|ZNF273_ENST00000319636.5_Intron|ZNF273_ENST00000545510.1_Intron NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) gtggctcacgtctgtaatccc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X78932 CCDS5528.2 7q11.21 2013-01-08 ENSG00000198039 10793 Zinc fingers, C2H2-type, - 13067 protein-coding gene gene with protein product 604756 NA 7865130 Standard NR_003099 NA Approved HZF9 uc003tto.3 Q14593 ENST00000476120.1:c.325+110T>C chr7.hg19:g.64378780T>C NA B3KQZ5|Q6P3V4 hg19 CCDS5528.2 0.02 1.748328 ACGxCTG COVERED NOVEL ZNF273-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313502.1 7 3.347194 KEEP 2 4 137 59 1897 TT 1 0.9982 0 + 5 60 165 0 0 11.067809 65 60 1960 164 ENST00000476120.1 0.071429 0.9982 INTS4L1 285905 __UNKNOWN__ __UNKNOWN__ 7 64643905 64643905 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:64643905T>C ENST00000587624.1 + 0 901 Q96LV5 IN4L1_HUMAN integrator complex subunit 4-like 1 NA NA NA tcactgcaacttccgcctcct 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 7q11.21 2013-03-26 ENSG00000164669 ENSG00000164669 285905 21925 other unknown NA Standard XR_041315 XR_426205 NA Approved FLJ25037 Q96LV5 OTTHUMG00000156510 ENST00000587624.1: chr7.hg19:g.64643905T>C NA hg19 0.02 1.804422 AACxTCC COVERED NOVEL INTS4L1-002 KNOWN non_canonical_conserved|basic processed_transcript NA pseudogene OTTHUMT00000460821.1 8 2.941527 KEEP 0 1 26 19 600 TT 0.999863 0.998856 0 + 5 60 154 2 0 10.008204 64 60 1831 102 ENST00000587624.1 0.072464 0.998993 ZNF92 168374 __UNKNOWN__ __UNKNOWN__ 7 64853913 64853913 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:64853913T>C ENST00000431504.1 + 2 162 ZNF92_ENST00000357512.2_Intron|ZNF92_ENST00000328747.7_Intron|ZNF92_ENST00000450302.2_Intron Q03936 ZNF92_HUMAN zinc finger protein 92 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) gaccttgttgtccaggctgga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M61872 CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1 7q11.21 2013-01-08 2006-05-12 ENSG00000146757 ENSG00000146757 168374 Zinc fingers, C2H2-type, - 13168 protein-coding gene gene with protein product 603974 zinc finger protein 92 (HTF12) NA 8467795 Standard NM_152626 NM_001287533 NA Approved HPF12, TF12 uc003ttz.3 Q03936 OTTHUMG00000156557 ENST00000431504.1:c.-2-9341T>C chr7.hg19:g.64853913T>C NA A6NNF9|Q8N492|Q8NB35 hg19 0.02 1.564233 TTGxCCA COVERED NOVEL ZNF92-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000345490.1 18 19.560066 KEEP 1 0 0 65 2111 TT 1 0.999919 0 + 9 60 316 0 1 23.626797 72 60 2139 206 ENST00000431504.1 0.111111 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 64981698 64981698 __UNKNOWN__ IGR SNP C C T rs201562545 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:64981698C>T NA NA RP11-667F9.2 (53347 upstream) : AC104057.1 (130382 downstream) NA NA NA gtctcgatctcctggcctcgt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.64981698C>T NA hg19 0.02 -0.245588 TCTxCTG COVERED NOVEL 0 17 3.912339 KEEP 4 0 0 13 440 CC 0.994391 0.63775 0 4 41 111 1 0 10.321526 5 60 164 61 0.444444 0.641347 INTS4L2 644619 __UNKNOWN__ __UNKNOWN__ 7 65154777 65154777 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:65154777G>A ENST00000430126.2 + 0 900 Q2T9F4 IN4L2_HUMAN integrator complex subunit 4-like 2 NA NA NA atggagtctcgctctgtcacc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC111554 7q11.21 2013-03-26 ENSG00000232270 ENSG00000273024 644619 22351 other unknown NA Standard NR_027392 NR_027392 NA Approved MGC133166 uc003tue.2 Q2T9F4 OTTHUMG00000156558 ENST00000430126.2: chr7.hg19:g.65154777G>A NA hg19 0.02 2.449677 CTCxCTC COVERED NOVEL INTS4L2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000345545.2 30 8.492462 KEEP 4 3 81 57 1918 GG 1 1 0 + 7 60 201 0 0 11.673117 121 60 3895 304 ENST00000430126.2 0.054687 1 VKORC1L1 154807 __UNKNOWN__ __UNKNOWN__ 7 65422373 65422373 __UNKNOWN__ 3'UTR SNP G G C rs1134243 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:65422373G>C ENST00000360768.3 + 0 3722 NM_001284342.1|NM_173517.4 NP_001271271.1|NP_775788.2 Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 NA NA cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057) large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170) gaggctgagggaggagaattg 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5529.1, CCDS64663.1 7q11.21 2013-10-07 ENSG00000196715 ENSG00000196715 154807 21492 protein-coding gene gene with protein product 608838 NA 23928358 Standard NM_173517 NM_001284342 NA Approved uc003tul.3 Q8N0U8 OTTHUMG00000129449 ENST00000360768.3:c.*3086G>C chr7.hg19:g.65422373G>C NA B4E222|E7ETM5|Q6AHW9|Q6TEK6 hg19 CCDS5529.1 0.02 3.686627 AGGxAGG COVERED NOVEL VKORC1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251612.3 7 8.032299 KEEP 1 4 138 75 2511 GG 1 0.999996 0 + 8 60 236 0 0 15.08414 99 60 3222 205 ENST00000360768.3 0.074766 0.999996 VKORC1L1 154807 __UNKNOWN__ __UNKNOWN__ 7 65422593 65422593 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:65422593T>G ENST00000360768.3 + 0 3942 NM_001284342.1|NM_173517.4 NP_001271271.1|NP_775788.2 Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 NA NA cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057) large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170) gccgaggcggttggatcacct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5529.1, CCDS64663.1 7q11.21 2013-10-07 ENSG00000196715 ENSG00000196715 154807 21492 protein-coding gene gene with protein product 608838 NA 23928358 Standard NM_173517 NM_001284342 NA Approved uc003tul.3 Q8N0U8 OTTHUMG00000129449 ENST00000360768.3:c.*3306T>G chr7.hg19:g.65422593T>G NA B4E222|E7ETM5|Q6AHW9|Q6TEK6 hg19 CCDS5529.1 0.02 3.5642 CGGxTGG COVERED NOVEL VKORC1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251612.3 23 11.434019 KEEP 2 3 103 74 2328 TT 1 1 0 + 6 60 177 1 0 10.291967 112 60 3333 245 ENST00000360768.3 0.050847 1 VKORC1L1 154807 __UNKNOWN__ __UNKNOWN__ 7 65424055 65424055 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:65424055T>C ENST00000360768.3 + 0 5404 NM_001284342.1|NM_173517.4 NP_001271271.1|NP_775788.2 Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 NA NA cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057) large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170) ctttgggaggtagaggcgggt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5529.1, CCDS64663.1 7q11.21 2013-10-07 ENSG00000196715 ENSG00000196715 154807 21492 protein-coding gene gene with protein product 608838 NA 23928358 Standard NM_173517 NM_001284342 NA Approved uc003tul.3 Q8N0U8 OTTHUMG00000129449 ENST00000360768.3:c.*4768T>C chr7.hg19:g.65424055T>C NA B4E222|E7ETM5|Q6AHW9|Q6TEK6 hg19 CCDS5529.1 0.02 1.862811 AGGxAGA COVERED NOVEL VKORC1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251612.3 1 6.146722 KEEP 0 1 36 33 911 TT 0.999998 0.989541 0 + 4 40 133 0 0 9.08888 48 60 1263 115 ENST00000360768.3 0.076923 0.989542 VKORC1L1 154807 __UNKNOWN__ __UNKNOWN__ 7 65424089 65424089 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:65424089A>G ENST00000360768.3 + 0 5438 NM_001284342.1|NM_173517.4 NP_001271271.1|NP_775788.2 Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 NA NA cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057) large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170) tcaggagttcaagaccagcct 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5529.1, CCDS64663.1 7q11.21 2013-10-07 ENSG00000196715 ENSG00000196715 154807 21492 protein-coding gene gene with protein product 608838 NA 23928358 Standard NM_173517 NM_001284342 NA Approved uc003tul.3 Q8N0U8 OTTHUMG00000129449 ENST00000360768.3:c.*4802A>G chr7.hg19:g.65424089A>G NA B4E222|E7ETM5|Q6AHW9|Q6TEK6 hg19 CCDS5529.1 0.02 3.110667 TTCxAGA COVERED NOVEL VKORC1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251612.3 23 8.055771 KEEP 0 1 29 37 1108 AA 1 0.999999 0 + 5 60 159 0 0 9.422646 107 60 3028 244 ENST00000360768.3 0.044643 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 65531370 65531370 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:65531370A>G NA NA AC068533.1 (10065 upstream) : ASL (9414 downstream) NA NA NA caaagtgctgagattataggc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.65531370A>G NA hg19 0.02 -0.254015 CTGxGAT COVERED NOVEL 0 7 3.009261 KEEP 0 0 0 10 317 AA 0.992708 0.663648 0 3 60 96 0 1 6.94295 24 60 714 52 0.111111 0.668523 ASL 435 __UNKNOWN__ __UNKNOWN__ 7 65550519 65550519 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:65550519C>A ENST00000304874.9 + 7 548 ASL_ENST00000395331.3_Intron|ASL_ENST00000395332.3_Intron|ASL_ENST00000380839.4_Intron NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase NA NA arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) argininosuccinate lyase activity (GO:0004056) breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) taatcccagccctttgggagg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5531.1, CCDS47597.1, CCDS47598.1 7q11.21 2012-10-02 ENSG00000126522 ENSG00000126522 435 4.3.2.1 746 protein-coding gene gene with protein product 608310 NA Standard NM_000048 NM_001024943 NA Approved uc003tuo.3 P04424 OTTHUMG00000022876 ENST00000304874.9:c.447-1053C>A chr7.hg19:g.65550519C>A NA E7EMI0|E9PE48|Q6LDS5|Q96HS2 hg19 CCDS5531.1 0.02 -0.245613 AGCxCTT COVERED NOVEL ASL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251695.2 6 2.708597 KEEP 0 0 0 9 314 CC 0.99254 0.636563 0 + 3 60 90 0 0 6.39556 23 60 755 53 ENST00000304874.9 0.115385 0.641347 CRCP 27297 __UNKNOWN__ __UNKNOWN__ 7 65618165 65618165 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:65618165T>C ENST00000395326.3 + 0 1626 RP5-1132H15.1_ENST00000435524.2_RNA|CRCP_ENST00000338592.5_3'UTR|CRCP_ENST00000415001.2_3'UTR NM_014478.4 NP_055293.1 O75575 RPC9_HUMAN CGRP receptor component NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383) acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166) cervix(1)|kidney(1)|lung(4) 6 tgactcatgcttgtaatccca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF073792 CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1 7q11.1 2009-01-14 ENSG00000241258 ENSG00000241258 27297 17888 protein-coding gene gene with protein product calcitonin gene-related peptide-receptor component protein 606121 NA 8622957, 10067875, 12482973 Standard NM_014478 NM_014478 NA Approved CGRP-RCP, RCP, RCP9 uc011kdw.2 O75575 OTTHUMG00000129519 ENST00000395326.3:c.*821T>C chr7.hg19:g.65618165T>C NA A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4 hg19 CCDS5532.1 0.02 -0.289397 TGCxTGT COVERED NOVEL CRCP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251697.2 4 4.748748 KEEP 0 1 38 29 897 TT 0.999997 0.760885 0 + 3 60 105 0 0 7.609087 29 60 845 71 ENST00000395326.3 0.09375 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 65985962 65985962 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:65985962C>G NA NA GS1-124K5.4 (25501 upstream) : GS1-124K5.11 (5112 downstream) NA NA NA AACCCATAATCATTTTGCGCT 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.65985962C>G NA hg19 0.02 -0.236845 AATxATT COVERED NOVEL 0 0 2.407233 KEEP 0 0 0 8 258 CC 0.99257 0.607857 0 10 60 333 0 0 30.341915 17 60 555 45 0.37037 0.612407 TMEM248 55069 __UNKNOWN__ __UNKNOWN__ 7 66414272 66414272 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:66414272A>G ENST00000341567.4 + 4 851 NM_017994.4 NP_060464.1 Q9NWD8 TM248_HUMAN transmembrane protein 248 NA NA integral component of membrane (GO:0016021) NA tcaggagttcaagaccagcct 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5536.1 7q11.21 2012-05-30 2012-05-30 2012-05-30 ENSG00000106609 ENSG00000106609 55069 25476 protein-coding gene gene with protein product chromosome 7 open reading frame 42 C7orf42 NA 12477932 Standard NM_017994 XM_005250482 NA Approved FLJ10099, FLJ13090 uc003tvk.3 Q9NWD8 OTTHUMG00000129553 ENST00000341567.4:c.596+591A>G chr7.hg19:g.66414272A>G NA Q53H07|Q96FR2 hg19 CCDS5536.1 0.02 -0.254287 TTCxAGA COVERED NOVEL TMEM248-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251745.2 5 2.40702 KEEP 3 0 0 8 243 AA 0.99257 0.688515 0 + 3 39 96 0 0 6.893236 25 60 691 55 ENST00000341567.4 0.107143 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 69034343 69034343 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:69034343A>G NA NA RN7SL371P (33040 upstream) : RP5-942I16.1 (26600 downstream) NA NA NA aaagtgctggaattacaggca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.69034343A>G NA hg19 0.02 -0.175395 TGGxATT UNCOVERED NOVEL 0 6 2.40704 KEEP 1 0 0 8 246 AA 0 0 0 6 60 190 0 0 16.887409 12 60 346 42 0.333333 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 70346136 70346136 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:70346136A>G NA NA AUTS2 (88082 upstream) : WBSCR17 (251018 downstream) NA NA NA ttgggaggccaaggcaggagg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.70346136A>G NA hg19 0.02 -0.192961 GCCxAGG COVERED NOVEL 0 8 3.009232 KEEP 0 0 0 10 315 AA 0.992708 0.454419 0 3 37 101 0 0 7.933226 16 60 486 49 0.157895 0.457757 CALN1 83698 __UNKNOWN__ __UNKNOWN__ 7 71904841 71904841 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:71904841C>T ENST00000395276.2 - 1 20 CALN1_ENST00000431984.1_Intron Q9BXU9 CABP8_HUMAN calneuron 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588) calcium ion binding (GO:0005509) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ggattacaggcgtgagccact 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF282250 CCDS5541.1, CCDS47603.1 7q11 2013-01-10 ENSG00000183166 ENSG00000183166 83698 EF-hand domain containing 13248 protein-coding gene gene with protein product calcium-binding protein CABP8 607176 NA 11286509 Standard NM_031468 NM_031468 NA Approved uc003twb.4 Q9BXU9 OTTHUMG00000023787 ENST00000395276.2:c.224+7185G>A chr7.hg19:g.71904841C>T NA J3KQA7 hg19 CCDS5541.1 0.02 -0.175393 AGGxGTG COVERED NOVEL CALN1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252013.3 2 2.407618 KEEP 3 0 0 8 270 CC 0.99257 0.384528 0 - 3 60 89 0 0 6.73412 16 60 513 46 ENST00000395276.2 0.157895 0.387407 TYW1B 441250 __UNKNOWN__ __UNKNOWN__ 7 72090343 72090343 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:72090343T>C ENST00000435769.2 - 0 1741 TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) NA NA tRNA processing (GO:0008033) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491) NA gtggctcacgtctgtaatccc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC068520 CCDS69309.1 7q11.23 2011-08-11 2009-07-28 ENSG00000254184 ENSG00000277149 441250 33908 protein-coding gene gene with protein product radical S-adenosyl methionine and flavodoxin domains 1, non-protein coding RNA 69, long intergenic non-protein coding RNA 69 tRNA-yW synthesizing protein 1 homolog B (non-protein coding) NA Standard NM_001145440 NM_001145440 NA Approved RSAFD2, MGC87315, NCRNA00069, LINC00069 uc011kej.2 Q6NUM6 OTTHUMG00000157067 ENST00000435769.2: chr7.hg19:g.72090343T>C NA A6NG09|B4DFY2|Q3KQX2 hg19 0.02 -0.245556 ACGxCTG COVERED NOVEL TYW1B-001 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000347346.2 8 2.40688 KEEP 0 0 0 8 241 TT 0.99257 0.636582 0 - 3 60 104 0 0 7.848892 22 60 625 49 ENST00000435769.2 0.12 0.641347 POM121 9883 __UNKNOWN__ __UNKNOWN__ 7 72386473 72386473 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:72386473T>C ENST00000395270.1 + 4 890 POM121_ENST00000257622.4_Intron|POM121_ENST00000446813.1_Intron|POM121_ENST00000358357.3_Intron NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) tcccaaagtgttgggattaca 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014518 CCDS5542.1, CCDS59059.1 7q11.23 2013-01-08 2012-03-13 ENSG00000196313 ENSG00000196313 9883 - 19702 protein-coding gene gene with protein product 615753 POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein NA 8335683, 9734811, 17900573 Standard NM_172020 NA Approved KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A uc003twk.2 Q96HA1 OTTHUMG00000023527 ENST00000395270.1:c.-152+2108T>C chr7.hg19:g.72386473T>C NA A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7 hg19 CCDS59059.1 0.02 -0.22799 GTGxTGG COVERED NOVEL POM121-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000252020.1 7 3.008253 KEEP 0 0 0 10 304 TT 0.992708 0.578679 0 + 3 60 97 0 0 7.149495 22 60 622 45 ENST00000395270.1 0.12 0.58293 GTF2IRD2P1 401375 __UNKNOWN__ __UNKNOWN__ 7 72685469 72685469 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:72685469G>A ENST00000425256.1 - 0 120 GTF2I repeat domain containing 2 pseudogene 1 NA NA NA agcctgggtggcagagcaaga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AY312852 7q11.23 2010-03-19 2010-02-09 2010-02-09 ENSG00000214544 ENSG00000214544 401375 33127 pseudogene pseudogene GTF2I repeat domain containing 2 pseudogene GTF2IRD2P NA 15100712 Standard NR_002164 NG_033736 NA Approved uc003txs.1 OTTHUMG00000156803 ENST00000425256.1: chr7.hg19:g.72685469G>A NA hg19 0.02 -0.394314 GTGxCAG COVERED NOVEL GTF2IRD2P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000345921.1 8 2.541716 KEEP 10 1 33 20 680 GG 0.999366 0.926053 0 - 4 60 125 0 0 9.01189 31 60 974 83 ENST00000425256.1 0.114286 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 72802938 72802938 __UNKNOWN__ IGR SNP G G A rs572926005 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:72802938G>A NA NA FKBP6 (30304 upstream) : Y_RNA (15179 downstream) NA NA NA aactaattccgattggctaat 0.507 NA G||| 2 0.000399361 0 0 5008 , , NA 17352 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.72802938G>A NA hg19 0.02 -0.149117 TCCxATT COVERED NOVEL 0 2 2.405996 KEEP 0 0 0 8 239 GG 0.99257 0.289832 0 3 60 84 1 0 6.392327 14 60 457 30 0.176471 0.292001 TBL2 26608 __UNKNOWN__ __UNKNOWN__ 7 72989134 72989134 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:72989134C>T ENST00000305632.5 - 2 372 TBL2_ENST00000459913.1_Intron|TBL2_ENST00000452475.1_Intron|TBL2_ENST00000432538.1_Intron NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 NA NA poly(A) RNA binding (GO:0044822) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) agagcaagaccctgtctcaaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF056183 CCDS5551.1 7q11.23 2013-01-10 ENSG00000106638 ENSG00000106638 26608 WD repeat domain containing 11586 protein-coding gene gene with protein product Williams-Beuren syndrome chromosome region 13 605842 NA 9860302, 10575226 Standard NM_012453 XM_006715923 NA Approved WS-betaTRP, WBSCR13, DKFZP43N024 uc003tyh.3 Q9Y4P3 OTTHUMG00000023427 ENST00000305632.5:c.131-291G>A chr7.hg19:g.72989134C>T NA Q9UQE2 hg19 CCDS5551.1 0.02 1.254827 GACxCTG COVERED NOVEL TBL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252233.3 10 7.82513 KEEP 0 0 0 26 890 CC 0.999957 0.999516 0 - 8 60 226 0 0 15.096784 73 60 2422 144 ENST00000305632.5 0.098765 0.999559 WBSCR28 135886 __UNKNOWN__ __UNKNOWN__ 7 73279248 73279248 __UNKNOWN__ Intron SNP G G A rs368397300|rs371305039|rs115487001 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:73279248G>A ENST00000320531.2 + 2 108 NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 NA NA integral component of membrane (GO:0016021) breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) aaaaaaaaaagaaaaagaaaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC030643 CCDS43597.1 7q11.23 2006-07-04 ENSG00000175877 ENSG00000175877 135886 23018 protein-coding gene gene with protein product 612547 NA 8812460 Standard NM_182504 NM_182504 NA Approved MGC26719 uc003tzk.2 Q6UE05 OTTHUMG00000157243 ENST00000320531.2:c.73-75G>A chr7.hg19:g.73279248G>A NA Q6UE04|Q8NHP4 hg19 CCDS43597.1 0.02 -0.393009 AAAxAAA COVERED NOVEL WBSCR28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348130.1 9 2.264893 KEEP 0 1 11 12 282 GG 0.994391 0.921442 0 + 7 60 198 0 0 15.008786 34 70 1041 65 ENST00000320531.2 0.170732 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 73621369 73621369 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:73621369T>A NA NA EIF4H (9938 upstream) : LAT2 (2356 downstream) NA NA NA ctgtaatccctgcactttggg 0.547 NA OREG0018114 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.73621369T>A 1146 hg19 0.02 -0.184187 CCCxGCA COVERED NOVEL 0 5 2.407511 KEEP 0 0 0 8 258 TT 0.99257 0.420331 0 3 60 94 1 0 7.092474 18 60 535 42 0.142857 0.423478 RFC2 5982 __UNKNOWN__ __UNKNOWN__ 7 73646276 73646276 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:73646276T>C ENST00000055077.3 - 0 1285 RFC2_ENST00000352131.3_3'UTR NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa NA NA DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|DNA binding (GO:0003677) central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 tcccaaagtgttgggattaca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5567.1, CCDS5568.1, CCDS75618.1 7q11.23 2010-04-21 2002-08-29 ENSG00000049541 ENSG00000049541 5982 ATPases / AAA-type 9970 protein-coding gene gene with protein product activator 1 600404 replication factor C (activator 1) 2 (40kD) NA 1313560, 7774928 Standard NM_181471 NM_181471 NA Approved A1, RFC40 uc003uaj.3 P35250 OTTHUMG00000023239 ENST00000055077.3:c.*160A>G chr7.hg19:g.73646276T>C NA B5BU07|D3DXG3|P32846|Q9BU93 hg19 CCDS5568.1 0.02 3.514846 GTGxTGG COVERED NOVEL RFC2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252459.2 12 20.45515 KEEP 2 0 0 68 1988 TT 1 1 0 - 8 60 269 0 0 17.513536 128 60 3525 282 ENST00000055077.3 0.058824 1 CLIP2 7461 __UNKNOWN__ __UNKNOWN__ 7 73816142 73816142 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:73816142C>T ENST00000395060.1 + 15 3129 CLIP2_ENST00000361545.5_Intron|CLIP2_ENST00000223398.6_Intron Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 NA NA cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 acgcctgtaaccccagcactt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006629 CCDS5569.1, CCDS5570.1 7q11.23 2008-06-12 2007-01-04 2007-01-04 ENSG00000106665 ENSG00000106665 7461 2586 protein-coding gene gene with protein product 603432 cytoplasmic linker 2, Williams-Beuren syndrome chromosome region 3 WBSCR4, CYLN2, WBSCR3 NA 8812460, 9799601 Standard NM_003388 NM_003388 NA Approved CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3 uc003uam.3 Q9UDT6 OTTHUMG00000022980 ENST00000395060.1:c.3129+245C>T chr7.hg19:g.73816142C>T NA O14527|O43611 hg19 CCDS5569.1 0.02 -0.175432 TAAxCCC COVERED NOVEL CLIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252556.1 7 2.708893 KEEP 0 0 0 9 322 CC 0.99254 0.384517 0 + 3 60 94 0 0 7.672752 11 60 373 40 ENST00000395060.1 0.214286 0.387407 GTF2IRD1 9569 __UNKNOWN__ __UNKNOWN__ 7 74009470 74009470 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:74009470T>C ENST00000476977.1 + 25 4320 GTF2IRD1_ENST00000455841.2_Intron|GTF2IRD1_ENST00000424337.2_Intron|GTF2IRD1_ENST00000265755.3_Intron Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 NA NA multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 cagtggctcatgcctgtaatc 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151354 CCDS5571.1, CCDS47613.1, CCDS56492.1 7q11.23 2008-04-18 2002-01-14 ENSG00000006704 ENSG00000006704 9569 4661 protein-coding gene gene with protein product binding factor for early enhancer 604318 GTF2I repeat domain-containing 1 WBSCR11 NA 9774679, 10198167 Standard NM_016328 NM_016328 NA Approved MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1 uc010lbq.3 Q9UHL9 OTTHUMG00000023782 ENST00000476977.1:c.2629+92T>C chr7.hg19:g.74009470T>C NA O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91 hg19 0.02 1.704545 TCAxGCC COVERED NOVEL GTF2IRD1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000351531.1 9 6.319087 KEEP 1 0 0 21 665 TT 0.999869 0.998979 0 + 8 60 251 0 0 17.91604 66 60 1916 129 ENST00000476977.1 0.108108 0.99911 GTF2IRD2B 389524 __UNKNOWN__ __UNKNOWN__ 7 74564224 74564224 __UNKNOWN__ Silent SNP G G A rs145587319 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:74564224G>A ENST00000312575.7 + 16 2146 c.1971G>A c.(1969-1971)ccG>ccA p.P657P GTF2IRD2B_ENST00000418185.2_Silent_p.P204P NM_001003795.2 NP_001003795.1 Q6EKJ0 GTD2B_HUMAN GTF2I repeat domain containing 2B 657 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(1)|ovary(2)|prostate(1) 4 taattcatccggaatcactct 0.517 NA G||| 27 0.00539137 0.0204 0 5008 , , NA 24246 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 G 68,4260 0,68,2096 13 13 13 NA 1971 -1.9 0.2 7 dbSNP_134 13 0,8498 0,0,4249 no coding-synonymous GTF2IRD2B NM_001003795.2 0,68,6345 AA,AG,GG NA 0.0,1.5712,0.5302 657/950 74564224 68,12758 2164 4249 6413 SO:0001819 synonymous_variant AY312850 CCDS34659.1 7q11.23 2014-05-06 ENSG00000174428 ENSG00000174428 389524 33125 protein-coding gene gene with protein product 608900 NA 15100712 Standard NM_001003795 XM_005277580 NA Approved uc003ubt.3 Q6EKJ0 OTTHUMG00000181534 ENST00000312575.7:c.1971G>A chr7.hg19:g.74564224G>A NA B2RNE9|Q69GU6|Q8N979|Q9H739 hg19 CCDS34659.1 0.02 -0.157889 TCCxGAA COVERED NOVEL GTF2IRD2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342728.1 4 9.275401 KEEP 18 0 0 31 986 GG 0.999869 0.322764 0 + 3 40 93 0 0 7.210226 15 40 485 60 ENST00000312575.7 0.166667 0.322807 GTF2IRD2B 389524 __UNKNOWN__ __UNKNOWN__ 7 74565233 74565233 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:74565233T>C ENST00000312575.7 + 0 3155 GTF2IRD2B_ENST00000418185.2_3'UTR NM_001003795.2 NP_001003795.1 Q6EKJ0 GTD2B_HUMAN GTF2I repeat domain containing 2B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(1)|ovary(2)|prostate(1) 4 gtcgcccaggttggagtgcag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY312850 CCDS34659.1 7q11.23 2014-05-06 ENSG00000174428 ENSG00000174428 389524 33125 protein-coding gene gene with protein product 608900 NA 15100712 Standard NM_001003795 XM_005277580 NA Approved uc003ubt.3 Q6EKJ0 OTTHUMG00000181534 ENST00000312575.7:c.*130T>C chr7.hg19:g.74565233T>C NA B2RNE9|Q69GU6|Q8N979|Q9H739 hg19 CCDS34659.1 0.02 3.976634 AGGxTGG COVERED NOVEL GTF2IRD2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342728.1 20 4.154062 KEEP 16 4 150 66 2113 TT 1 0.999997 0 + 13 59 433 1 1 33.863618 70 60 2066 245 ENST00000312575.7 0.156627 0.999997 TRIM73 375593 __UNKNOWN__ __UNKNOWN__ 7 75028241 75028241 __UNKNOWN__ Silent SNP G G A rs73702637 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:75028241G>A ENST00000437796.1 + 1 43 c.24G>A c.(22-24)ctG>ctA p.L8L TRIM73_ENST00000323819.3_Silent_p.L8L|TRIM73_ENST00000447409.2_Silent_p.L8L|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000430211.1_Silent_p.L8L|TRIM73_ENST00000450434.1_Intron Q86UV7 TRI73_HUMAN tripartite motif containing 73 8 NA intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|lung(1)|pancreas(1) 4 TGAGCCTGCTGGAGCTGGAGG 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 137 139 138 NA NA NA 7 NA NA 75028241 2203 4300 6503 SO:0001819 synonymous_variant AF498998 CCDS34665.1 7q11.23 2013-01-09 2011-01-25 2006-03-31 ENSG00000178809 375593 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 18162 protein-coding gene gene with protein product 612549 tripartite motif-containing 50B, tripartite motif-containing 73 TRIM50B NA Standard NM_198924 NA Approved uc003udc.1 Q86UV7 ENST00000437796.1:c.24G>A chr7.hg19:g.75028241G>A NA Q8N0S3 hg19 CCDS34665.1 0.02 9.181119 GCTxGAG COVERED NOVEL TRIM73-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000342950.1 8 35.145811 KEEP 6 1 32 128 4583 GG 1 1 0 + 10 47 307 0 0 16.480391 289 52 9859 651 ENST00000437796.1 0.033445 1 HIP1 3092 __UNKNOWN__ __UNKNOWN__ 7 75164610 75164610 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:75164610T>C ENST00000434438.2 - 0 5864 HIP1_ENST00000336926.6_3'UTR NM_001243198.1 NP_001230127.1 O00291 HIP1_HUMAN huntingtin interacting protein 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 gctctgtcactcaggctggag 0.418 NA T PDGFRB CMML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 7 7q11.23 3092 huntingtin interacting protein 1 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF052288 CCDS34669.1, CCDS59060.1 7q11.23 2008-07-18 ENSG00000127946 ENSG00000127946 3092 4913 protein-coding gene gene with protein product 601767 NA 9140394, 9147654 Standard NM_005338 NM_005338 NA Approved ILWEQ uc003uds.2 O00291 OTTHUMG00000156050 ENST00000434438.2:c.*2883A>G chr7.hg19:g.75164610T>C NA B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4 hg19 CCDS59060.1 0.02 -0.2982 CACxCAG COVERED NOVEL HIP1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342864.2 7 3.911874 KEEP 0 0 0 13 411 TT 0.994391 0.776679 0 - 4 60 129 0 0 9.694365 26 70 775 53 ENST00000434438.2 0.133333 0.78106 HIP1 3092 __UNKNOWN__ __UNKNOWN__ 7 75164946 75164946 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:75164946T>G ENST00000434438.2 - 0 5528 HIP1_ENST00000336926.6_3'UTR NM_001243198.1 NP_001230127.1 O00291 HIP1_HUMAN huntingtin interacting protein 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 ctcccaaagttctgggattac 0.443 NA T PDGFRB CMML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 7 7q11.23 3092 huntingtin interacting protein 1 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF052288 CCDS34669.1, CCDS59060.1 7q11.23 2008-07-18 ENSG00000127946 ENSG00000127946 3092 4913 protein-coding gene gene with protein product 601767 NA 9140394, 9147654 Standard NM_005338 NM_005338 NA Approved ILWEQ uc003uds.2 O00291 OTTHUMG00000156050 ENST00000434438.2:c.*2547A>C chr7.hg19:g.75164946T>G NA B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4 hg19 CCDS59060.1 0.02 8.117493 AGTxCTG COVERED NOVEL HIP1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342864.2 58 10.19496 KEEP 1 5 181 97 2880 TT 1 1 0 - 13 60 423 0 0 28.483805 161 60 4429 393 ENST00000434438.2 0.074713 1 HIP1 3092 __UNKNOWN__ __UNKNOWN__ 7 75190526 75190526 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:75190526A>G ENST00000434438.2 - 13 1212 HIP1_ENST00000336926.6_Intron NM_001243198.1 NP_001230127.1 O00291 HIP1_HUMAN huntingtin interacting protein 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 ccaaagtgctaggattacagg 0.502 NA T PDGFRB CMML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 7 7q11.23 3092 huntingtin interacting protein 1 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052288 CCDS34669.1, CCDS59060.1 7q11.23 2008-07-18 ENSG00000127946 ENSG00000127946 3092 4913 protein-coding gene gene with protein product 601767 NA 9140394, 9147654 Standard NM_005338 NM_005338 NA Approved ILWEQ uc003uds.2 O00291 OTTHUMG00000156050 ENST00000434438.2:c.1191+106T>C chr7.hg19:g.75190526A>G NA B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4 hg19 CCDS59060.1 0.02 1.816285 GCTxGGA COVERED NOVEL HIP1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342864.2 6 3.439077 KEEP 0 1 36 24 707 AA 0.999931 0.999735 0 - 6 60 185 0 0 12.187537 72 60 2033 147 ENST00000434438.2 0.076923 0.999804 ZP3 7784 __UNKNOWN__ __UNKNOWN__ 7 76069937 76069937 __UNKNOWN__ Intron SNP C C T rs2906996 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:76069937C>T ENST00000394857.3 + 7 1118 ZP3_ENST00000336517.4_Intron|ZP3_ENST00000467555.1_Intron|ZP3_ENST00000416245.1_Intron NM_001110354.1 NP_001103824.1 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) NA NA binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141) acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279) endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 TGGTATGTCACAGAATGGCCA 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 100 91 94 NA NA NA 7 NA NA 76069937 2203 4300 6503 SO:0001627 intron_variant M60504 CCDS5586.1, CCDS47618.1 7q11.23 2014-07-04 2002-09-17 2002-09-20 ENSG00000188372 ENSG00000188372 7784 Zona pellucida glycoproteins 13189 protein-coding gene gene with protein product 182889 zona pellucida glycoprotein 3A (sperm receptor) ZP3A, ZP3B NA 1478648 Standard NM_007155 NA Approved ZP3-424, ZP3-372, ZPC uc003ufd.4 P21754 OTTHUMG00000130575 ENST00000394857.3:c.1060+9C>T chr7.hg19:g.76069937C>T NA Q06633|Q29RW0 hg19 CCDS47618.1 0.02 2.569466 TCAxAGA COVERED NOVEL ZP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253004.1 1 3.171549 KEEP 2 5 152 64 2258 CC 1 0.999997 0 + 6 27 168 0 0 9.476951 108 60 3666 259 ENST00000394857.3 0.052632 0.999997 GSAP 54103 __UNKNOWN__ __UNKNOWN__ 7 76955490 76955490 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:76955490C>G ENST00000257626.7 - 23 1906 GSAP_ENST00000440473.1_Intron|GSAP_ENST00000441833.2_Intron NM_017439.3 NP_059135.2 A4D1B5 GSAP_HUMAN gamma-secretase activating protein NA NA positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162) trans-Golgi network (GO:0005802) beta-amyloid binding (GO:0001540) NA CTTAGGGTTCCTTGTTTGCCA 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 74 73 73 NA NA NA 7 NA NA 76955490 1874 4106 5980 SO:0001627 intron_variant CCDS34672.2 7q11.23 2013-04-05 2013-04-05 2013-04-05 ENSG00000186088 ENSG00000186088 54103 28042 protein-coding gene gene with protein product 613552 pigeon homolog (Drosophila) PION NA 20811458 Standard NM_017439 NM_017439 NA Approved LOC54103 uc003ugf.3 A4D1B5 OTTHUMG00000150504 ENST00000257626.7:c.1827+38G>C chr7.hg19:g.76955490C>G NA A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9 hg19 CCDS34672.2 0.02 1.634362 TTCxTTG COVERED NOVEL GSAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318672.2 5 18.66122 KEEP 0 0 0 62 2231 CC 1 0.999678 0 - 33 60 1057 0 0 97.208371 50 60 1693 217 ENST00000257626.7 0.39759 0.999678 GSAP 54103 __UNKNOWN__ __UNKNOWN__ 7 76955640 76955640 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:76955640G>A ENST00000257626.7 - 23 1844 GSAP_ENST00000440473.1_Intron NM_017439.3 NP_059135.2 A4D1B5 GSAP_HUMAN gamma-secretase activating protein NA NA positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162) trans-Golgi network (GO:0005802) beta-amyloid binding (GO:0001540) NA TTCAGGAGATGGGTTAGAAGG 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 39 40 39 NA NA NA 7 NA NA 76955640 1871 4104 5975 SO:0001627 intron_variant CCDS34672.2 7q11.23 2013-04-05 2013-04-05 2013-04-05 ENSG00000186088 ENSG00000186088 54103 28042 protein-coding gene gene with protein product 613552 pigeon homolog (Drosophila) PION NA 20811458 Standard NM_017439 NM_017439 NA Approved LOC54103 uc003ugf.3 A4D1B5 OTTHUMG00000150504 ENST00000257626.7:c.1766-50C>T chr7.hg19:g.76955640G>A NA A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9 hg19 CCDS34672.2 0.02 -0.149099 GATxGGT COVERED NOVEL GSAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318672.2 0 4.815267 KEEP 0 0 0 16 542 GG 0.997832 0.291368 0 - 3 60 85 0 0 6.492456 14 60 429 34 ENST00000257626.7 0.176471 0.292001 RSBN1L 222194 __UNKNOWN__ __UNKNOWN__ 7 77373632 77373632 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:77373632T>C ENST00000334955.8 + 3 730 RSBN1L_ENST00000445288.1_Intron NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like NA NA nucleus (GO:0005634) central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ggattacaggtgtgagccacc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK124517 CCDS43607.1 7q21.11 2004-08-11 ENSG00000187257 ENSG00000187257 222194 24765 protein-coding gene gene with protein product NA 12477932 Standard NM_198467 NM_198467 NA Approved FLJ42526, FLJ45813, MGC71764 uc010ldt.1 Q6PCB5 OTTHUMG00000155517 ENST00000334955.8:c.704-5109T>C chr7.hg19:g.77373632T>C NA C9K0P1|Q6ZS58|Q6ZVI9|Q86X48 hg19 CCDS43607.1 0.02 -0.210458 AGGxGTG COVERED NOVEL RSBN1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340455.3 4 2.405534 KEEP 0 0 0 8 234 TT 0.99257 0.518282 0 + 3 60 90 0 0 6.50845 21 60 610 41 ENST00000334955.8 0.125 0.522161 GNAI1 2770 __UNKNOWN__ __UNKNOWN__ 7 79787305 79787305 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:79787305A>G ENST00000351004.3 + 1 491 GNAI1_ENST00000457358.2_Intron|GNAI1_ENST00000490206.1_Intron NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268) centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 gattacaggcataagccacca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL049933 CCDS5595.1, CCDS59061.1 7q21-q22 2008-07-18 ENSG00000127955 ENSG00000127955 2770 4384 protein-coding gene gene with protein product Gi1 protein alpha subunit 139310 NA 3110783 Standard NM_002069 NM_002069 NA Approved uc003uhb.1 P63096 OTTHUMG00000023523 ENST00000351004.3:c.118+22711A>G chr7.hg19:g.79787305A>G NA A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4 hg19 CCDS5595.1 0.02 -0.19295 GGCxTAA COVERED NOVEL GNAI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253254.1 5 2.407268 KEEP 1 0 0 8 252 AA 0.99257 0.454356 0 + 3 60 98 0 0 7.710293 15 60 436 48 ENST00000351004.3 0.166667 0.457757 SRI 6717 __UNKNOWN__ __UNKNOWN__ 7 87837274 87837274 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:87837274A>G ENST00000265729.2 - 7 623 SRI_ENST00000394641.3_Intron|SRI_ENST00000490437.1_Intron|SRI_ENST00000419179.1_Intron|SRI_ENST00000431660.1_3'UTR NM_003130.3 NP_003121.1 P30626 SORCN_HUMAN sorcin NA NA action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018) calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(14;0.00202) ctgcactccaacctgggcaac 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M32886 CCDS5612.1, CCDS47638.1, CCDS59063.1 7q21.1 2014-09-17 ENSG00000075142 ENSG00000075142 6717 EF-hand domain containing 11292 protein-coding gene gene with protein product 182520 NA 2901906 Standard NM_003130 NM_001256891 NA Approved uc003ujq.2 P30626 OTTHUMG00000157267 ENST00000265729.2:c.570+547T>C chr7.hg19:g.87837274A>G NA A8MTH6|B4DKK2|D6W5Q0 hg19 CCDS5612.1 0.02 -0.245547 CCAxCCT COVERED NOVEL SRI-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253680.1 1 2.708282 KEEP 0 0 0 9 292 AA 0.99254 0.636563 0 - 3 60 94 0 0 6.907578 21 60 618 45 ENST00000265729.2 0.125 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 89050757 89050757 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:89050757T>A NA NA ZNF804B (84411 upstream) : AC002383.2 (22530 downstream) NA NA NA ctcaaaaaaataaaaTAgagg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.89050757T>A NA hg19 0.02 -0.341973 AAAxAAA COVERED NOVEL 0 11 2.708094 KEEP 0 0 0 9 278 TT 0.99254 0.859287 0 4 60 107 2 0 7.441093 27 60 767 66 0.129032 0.865745 STEAP1 26872 __UNKNOWN__ __UNKNOWN__ 7 89790175 89790175 __UNKNOWN__ Missense_Mutation SNP C C G rs4015375 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:89790175C>G ENST00000297205.2 + 3 341 c.141C>G c.(139-141)caC>caG p.H47Q STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 47 NA H -> Q (in dbSNP:rs4015375). {ECO:0000269|PubMed:12690205}. ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085) cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215) kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) TGCATTTGCACCAAACAGCCC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 115 113 114 NA NA NA 7 NA NA 89790175 2203 4300 6503 SO:0001583 missense AF186249 CCDS5614.1 7q21 2011-08-31 2005-02-21 2005-02-24 ENSG00000164647 ENSG00000164647 26872 Serine peptidases / Serine peptidases 11378 protein-coding gene gene with protein product 604415 six transmembrane epithelial antigen of the prostate STEAP NA Standard NM_012449 NM_012449 NA Approved PRSS24 uc003ujx.3 Q9UHE8 OTTHUMG00000023006 ENST00000297205.2:c.141C>G chr7.hg19:g.89790175C>G ENSP00000297205:p.His47Gln NA A4D1E0|O95034 hg19 CCDS5614.1 0.02 3.288538 GCAxCAA COVERED . . . . . . . . . . C 0.311 -0.968000 0.02232 . . ENSG00000164647 ENST00000297205 T 0.06528 3.29 5.02 -2.31 0.06765 . 0.619153 0.15711 N 0.248415 T 0.03827 0.0108 L 0.43757 1.38 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.43065 -0.9414 10 0.17832 T 0.49 0.4639 0.8664 0.01204 0.4252:0.1398:0.1245:0.3104 rs4015375;rs4015375 47;47 B4E221;Q9UHE8 .;STEA1_HUMAN Q 47 ENSP00000297205:H47Q ENSP00000297205:H47Q H + 3 2 STEAP1 89628111 0.166000 0.22962 0.000000 0.03702 0.116000 0.19942 0.095000 0.15127 -0.309000 0.08779 0.655000 0.94253 CAC NOVEL STEAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059327.3 4 6.976209 KEEP 7 7 249 110 3903 CC 1 1 0 + 10 39 317 1 0 20.698828 135 60 4545 386 ENST00000297205.2 0.068966 1 STEAP2 261729 __UNKNOWN__ __UNKNOWN__ 7 89864152 89864152 __UNKNOWN__ Intron SNP T T C rs544016885 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:89864152T>C ENST00000394632.1 + 6 1354 STEAP2_ENST00000394626.1_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394622.2_3'UTR|STEAP2_ENST00000394629.2_Intron|STEAP2_ENST00000287908.3_3'UTR NM_001244946.1 NP_001231875.1 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase NA NA copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725) cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140) cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) aggtgtgagctaccgcgcccg 0.478 NA OREG0003792 type=REGULATORY REGION|Gene=STEAP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay T||| 4 0.000798722 0.0015 0 5008 , , NA 13737 0.001 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF455138 CCDS5615.1, CCDS43612.1, CCDS59064.1 7q21.13 2011-09-30 2011-09-30 ENSG00000157214 ENSG00000157214 261729 17885 protein-coding gene gene with protein product 605094 prostate cancer associated protein 1, six transmembrane epithelial antigen of the prostate 2 PCANAP1 NA 10613842, 12095985 Standard NM_152999 NM_001040665 NA Approved IPCA-1, STAMP1, STMP uc003ujz.3 Q8NFT2 OTTHUMG00000023341 ENST00000394632.1:c.1186-2053T>C chr7.hg19:g.89864152T>C 1270 A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7 hg19 CCDS59064.1 0.02 -0.41163 AGCxACC COVERED NOVEL STEAP2-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000139683.1 5 8.455037 KEEP 1 1 34 40 1162 TT 1 0.948402 0 + 5 60 160 0 0 11.575116 40 60 1128 110 ENST00000394632.1 0.111111 0.948402 C7orf63 0 __UNKNOWN__ __UNKNOWN__ 7 89889620 89889620 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:89889620A>G ENST00000389297.4 + 4 497 C7orf63_ENST00000316089.8_Intron|C7orf63_ENST00000497910.1_Intron|C7orf63_ENST00000463311.1_Intron NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN NA NA breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 caggaggatcatttgaggcca 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000389297.4:c.247-1641A>G chr7.hg19:g.89889620A>G NA A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2 hg19 CCDS43613.2 0.02 -0.315711 ATCxTTT COVERED NOVEL C7orf63-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000139891.4 8 2.406255 KEEP 0 0 0 8 236 AA 0.99257 0.812384 0 + 3 60 103 0 0 7.497556 27 60 794 65 ENST00000389297.4 0.1 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 90207364 90207364 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:90207364A>C NA NA CTB-13L3.1 (64659 upstream) : AC002456.2 (12568 downstream) NA NA NA gcaggaggataacttgaggct 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.90207364A>C NA hg19 0.02 -0.254315 GATxACT COVERED NOVEL 0 8 2.407106 KEEP 1 0 0 8 243 AA 0.99257 0.663556 0 3 60 98 0 0 7.143028 24 60 674 55 0.111111 0.668523 AKAP9 10142 __UNKNOWN__ __UNKNOWN__ 7 91648714 91648714 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:91648714T>A ENST00000356239.3 + 12 4070 AKAP9_ENST00000359028.2_Intron|AKAP9_ENST00000358100.2_Intron NM_005751.4|NM_147185.2 NP_005742.4|NP_671714.1 Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076) ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ttggcctccctaagtgctggg 0.453 NA T BRAF papillary thyroid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 7 7q21-q22 10142 A kinase (PRKA) anchor protein (yotiao) 9 E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF091711 CCDS5622.1 7q21-q22 2014-09-17 2013-09-25 ENSG00000127914 ENSG00000127914 10142 A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 379 protein-coding gene gene with protein product A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao 604001 NA 9482789, 10390370, 24475373 Standard NM_005751 NM_147185 NA Approved KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11 uc003ulg.3 Q99996 OTTHUMG00000131127 ENST00000356239.3:c.3837+2298T>A chr7.hg19:g.91648714T>A NA A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2 hg19 CCDS5622.1 0.02 -0.271825 CCCxAAG COVERED NOVEL AKAP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253808.2 4 2.407348 KEEP 0 0 0 8 252 TT 0.99257 0.734176 0 + 4 60 98 0 0 6.603133 26 60 753 59 ENST00000356239.3 0.133333 0.739671 LRRD1 401387 __UNKNOWN__ __UNKNOWN__ 7 91771457 91771457 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:91771457T>C ENST00000343318.5 - 0 1572 CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000422722.1_Intron A4D1F6 LRRD1_HUMAN leucine-rich repeats and death domain containing 1 NA NA signal transduction (GO:0007165) breast(4)|endometrium(1) 5 agggtttcactgtgttagcca 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026112 CCDS55124.1 7q21.2 2011-05-23 ENSG00000240720 ENSG00000240720 401387 34300 protein-coding gene gene with protein product NA Standard NM_001045475 NM_001161528 NA Approved IMAGE:4798971 uc011khp.1 A4D1F6 OTTHUMG00000155861 ENST00000343318.5:c.*667A>G chr7.hg19:g.91771457T>C NA B7ZMM9|Q49AT9 hg19 0.02 1.862797 CACxGTG COVERED NOVEL LRRD1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000342026.2 3 7.521179 KEEP 1 0 0 25 752 TT 0.999931 0.987875 0 - 4 40 127 0 0 8.263366 55 60 1536 92 ENST00000343318.5 0.067797 0.987943 LRRD1 401387 __UNKNOWN__ __UNKNOWN__ 7 91771536 91771536 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:91771536A>G ENST00000343318.5 - 0 1493 CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000422722.1_Intron A4D1F6 LRRD1_HUMAN leucine-rich repeats and death domain containing 1 NA NA signal transduction (GO:0007165) breast(4)|endometrium(1) 5 gattacaggcatgagccaccc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026112 CCDS55124.1 7q21.2 2011-05-23 ENSG00000240720 ENSG00000240720 401387 34300 protein-coding gene gene with protein product NA Standard NM_001045475 NM_001161528 NA Approved IMAGE:4798971 uc011khp.1 A4D1F6 OTTHUMG00000155861 ENST00000343318.5:c.*588T>C chr7.hg19:g.91771536A>G NA B7ZMM9|Q49AT9 hg19 0.02 7.338137 GGCxTGA COVERED NOVEL LRRD1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000342026.2 38 9.764041 KEEP 1 4 148 84 2628 AA 1 1 0 - 9 60 307 1 0 18.909834 199 60 5923 476 ENST00000343318.5 0.043269 1 LRRD1 401387 __UNKNOWN__ __UNKNOWN__ 7 91771973 91771973 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:91771973G>A ENST00000343318.5 - 0 1056 CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000422722.1_Intron A4D1F6 LRRD1_HUMAN leucine-rich repeats and death domain containing 1 NA NA signal transduction (GO:0007165) breast(4)|endometrium(1) 5 tctgatgttcggatgtgttcg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026112 CCDS55124.1 7q21.2 2011-05-23 ENSG00000240720 ENSG00000240720 401387 34300 protein-coding gene gene with protein product NA Standard NM_001045475 NM_001161528 NA Approved IMAGE:4798971 uc011khp.1 A4D1F6 OTTHUMG00000155861 ENST00000343318.5:c.*151C>T chr7.hg19:g.91771973G>A NA B7ZMM9|Q49AT9 hg19 0.02 1.182674 TTCxGAT COVERED NOVEL LRRD1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000342026.2 3 6.621245 KEEP 0 0 0 22 764 GG 0.999879 0.999196 0 - 6 60 157 0 0 9.481958 72 60 2297 143 ENST00000343318.5 0.076923 0.999317 LRRD1 401387 __UNKNOWN__ __UNKNOWN__ 7 91779759 91779759 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:91779759T>A ENST00000458448.1 - 4 2479 CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000430130.2_Intron|LRRD1_ENST00000454089.2_Intron A4D1F6 LRRD1_HUMAN leucine-rich repeats and death domain containing 1 NA NA signal transduction (GO:0007165) breast(4)|endometrium(1) 5 agcctgggtgtcagagtgaga 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC026112 CCDS55124.1 7q21.2 2011-05-23 ENSG00000240720 ENSG00000240720 401387 34300 protein-coding gene gene with protein product NA Standard NM_001045475 NM_001161528 NA Approved IMAGE:4798971 uc011khp.1 A4D1F6 OTTHUMG00000155861 ENST00000458448.1:c.2278+88A>T chr7.hg19:g.91779759T>A NA B7ZMM9|Q49AT9 hg19 CCDS55124.1 0.02 -0.263033 GTGxCAG COVERED NOVEL LRRD1-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342027.2 3 2.702567 KEEP 1 0 0 9 243 TT 0.99254 0.688494 0 - 3 60 95 0 0 6.895496 23 60 631 46 ENST00000458448.1 0.115385 0.693668 GATAD1 57798 __UNKNOWN__ __UNKNOWN__ 7 92087429 92087429 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:92087429T>C ENST00000287957.3 + 0 2640 AC007566.10_ENST00000427458.1_RNA NM_021167.4 NP_066990.3 Q8WUU5 GATD1_HUMAN GATA zinc finger domain containing 1 NA NA nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|lung(3) 6 all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676) STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225) ccagcctgggtgatagagcaa 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5625.1 7q21-q22 2014-09-17 ENSG00000157259 ENSG00000157259 57798 GATA zinc finger domain containing 29941 protein-coding gene gene with protein product ocular development associated gene 614518 NA 12062807 Standard NM_021167 NM_021167 NA Approved ODAG, RG083M05.2, FLJ22489 uc003ulx.2 Q8WUU5 OTTHUMG00000131201 ENST00000287957.3:c.*1553T>C chr7.hg19:g.92087429T>C NA B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689 hg19 CCDS5625.1 0.02 -0.420874 GGGxGAT COVERED NOVEL GATAD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253929.2 6 4.210895 KEEP 0 0 0 14 403 TT 0.995343 0.943985 0 + 4 60 130 1 0 9.175505 38 60 1091 86 ENST00000287957.3 0.095238 0.948402 FAM133B 257415 __UNKNOWN__ __UNKNOWN__ 7 92195035 92195035 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:92195035T>C ENST00000445716.1 - 10 760 FAM133B_ENST00000438306.1_Intron|FAM133B_ENST00000427372.1_Intron NM_152789.2 NP_690002.2 Q5BKY9 F133B_HUMAN family with sequence similarity 133, member B NA NA poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 4 all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) cctcagcctctcaaagtgctg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47640.1, CCDS47641.1 7q21.2 2014-02-12 2007-04-26 ENSG00000234545 ENSG00000234545 257415 28629 protein-coding gene gene with protein product NA 12477932 Standard NM_001040057 NM_152789 NA Approved MGC40405 uc003umc.3 Q5BKY9 OTTHUMG00000155863 ENST00000445716.1:c.657+292A>G chr7.hg19:g.92195035T>C NA B2R994|Q05D67|Q6P5S6|Q8N0W8 hg19 CCDS47640.1 0.02 5.674755 CTCxCAA COVERED NOVEL FAM133B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342181.2 22 14.482495 KEEP 2 4 137 96 3012 TT 1 1 0 - 8 60 278 1 0 17.989668 145 60 4394 357 ENST00000445716.1 0.052288 1 CCDC132 55610 __UNKNOWN__ __UNKNOWN__ 7 92949929 92949929 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:92949929G>A ENST00000305866.5 + 21 1983 CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_Intron|CCDC132_ENST00000544910.1_Intron NM_017667.3 NP_060137.2 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) cgcccgcctcggcctcccaaa 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833112, AK055965, AL832393 CCDS5630.1, CCDS43617.1, CCDS59065.1 7q21.3 2007-07-23 ENSG00000004766 ENSG00000004766 55610 25956 protein-coding gene gene with protein product NA 11347906 Standard NM_017667 NM_024553 NA Approved KIAA1861, FLJ20097, DKFZp313I2429 uc003umo.4 Q96JG6 OTTHUMG00000131733 ENST00000305866.5:c.1856-2994G>A chr7.hg19:g.92949929G>A NA B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6 hg19 CCDS43617.1 0.02 -0.263162 CTCxGCC COVERED NOVEL CCDC132-019 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341687.1 4 2.706121 KEEP 3 0 0 9 278 GG 0.99254 0.711964 0 + 3 60 89 0 0 6.349865 22 60 730 58 ENST00000305866.5 0.12 0.717315 SGCE 8910 __UNKNOWN__ __UNKNOWN__ 7 94219059 94219059 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:94219059C>T ENST00000265735.7 - 10 1364 SGCE_ENST00000428696.2_Intron|SGCE_ENST00000445866.2_Intron|SGCE_ENST00000415788.2_Intron|SGCE_ENST00000447873.1_Intron|SGCE_ENST00000437425.2_Intron NM_003919.2 NP_003910.1 O43556 SGCE_HUMAN sarcoglycan, epsilon NA NA cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517) cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012) calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) tgtcactgtcccccatcaccc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF036364 CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1 7q21.3 2014-09-17 ENSG00000127990 ENSG00000127990 8910 10808 protein-coding gene gene with protein product 604149 DYT11 NA 9475163, 9405466 Standard NM_001099401 NA Approved uc003unn.2 O43556 OTTHUMG00000022828 ENST00000265735.7:c.1254-1015G>A chr7.hg19:g.94219059C>T NA B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28 hg19 CCDS5637.1 0.02 -0.403512 GTCxCCC COVERED NOVEL SGCE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255251.2 5 2.407932 KEEP 0 0 0 8 290 CC 0.99257 0.927549 0 - 4 60 116 0 0 7.778161 38 60 1285 81 ENST00000265735.7 0.095238 0.934492 SLC25A13 10165 __UNKNOWN__ __UNKNOWN__ 7 95838085 95838085 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:95838085A>G ENST00000265631.5 - 5 605 SLC25A13_ENST00000416240.2_Intron|SLC25A13_ENST00000542654.1_Intron Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 NA NA aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215) breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) ccaaagtgctaggattatagg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF118838 CCDS5645.1, CCDS55130.1 7q21.3 2013-05-22 2012-03-29 ENSG00000004864 ENSG00000004864 10165 Solute carriers, EF-hand domain containing 10983 protein-coding gene gene with protein product mitochondrial aspartate glutamate carrier 2 603859 solute carrier family 25, member 13 (citrin) CTLN2 NA 10369257 Standard NM_014251 NM_014251 NA Approved CITRIN, ARALAR2 uc003uog.4 Q9UJS0 OTTHUMG00000023074 ENST00000265631.5:c.468+64T>C chr7.hg19:g.95838085A>G NA O14566|O14575|Q546F9|Q9NZW1|Q9UNI7 hg19 CCDS5645.1 0.02 5.690728 GCTxGGA COVERED NOVEL SLC25A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059395.2 21 14.30532 KEEP 0 2 67 71 2162 AA 1 1 0 - 8 60 269 1 0 17.388178 133 60 3702 315 ENST00000265631.5 0.056738 1 SLC25A13 10165 __UNKNOWN__ __UNKNOWN__ 7 95838092 95838092 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:95838092T>C ENST00000265631.5 - 5 605 SLC25A13_ENST00000416240.2_Intron|SLC25A13_ENST00000542654.1_Intron Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 NA NA aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215) breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) gctaggattataggtgtgagc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF118838 CCDS5645.1, CCDS55130.1 7q21.3 2013-05-22 2012-03-29 ENSG00000004864 ENSG00000004864 10165 Solute carriers, EF-hand domain containing 10983 protein-coding gene gene with protein product mitochondrial aspartate glutamate carrier 2 603859 solute carrier family 25, member 13 (citrin) CTLN2 NA 10369257 Standard NM_014251 NM_014251 NA Approved CITRIN, ARALAR2 uc003uog.4 Q9UJS0 OTTHUMG00000023074 ENST00000265631.5:c.468+57A>G chr7.hg19:g.95838092T>C NA O14566|O14575|Q546F9|Q9NZW1|Q9UNI7 hg19 CCDS5645.1 0.02 5.35332 TTAxAGG COVERED NOVEL SLC25A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059395.2 29 20.791534 KEEP 0 1 37 82 2411 TT 1 1 0 - 8 60 261 0 0 15.964122 160 60 4381 376 ENST00000265631.5 0.047619 1 SHFM1 7979 __UNKNOWN__ __UNKNOWN__ 7 96302707 96302707 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:96302707A>G ENST00000444799.1 - 2 265 SHFM1_ENST00000417009.1_Intron P60896 DSS1_HUMAN split hand/foot malformation (ectrodactyly) type 1 NA NA double-strand break repair via homologous recombination (GO:0000724) proteasome complex (GO:0000502) breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987) gattacaggcatgagccactg 0.498 NA Homologous recombination NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U41515 CCDS5646.1 7q21.3 2010-04-22 ENSG00000127922 ENSG00000127922 7979 10845 protein-coding gene gene with protein product deleted in split-hand/foot 1 601285 SHFD1 NA 1895319, 8733122 Standard NM_006304 NM_006304 NA Approved DSS1, Shfdg1, ECD, SEM1, SHSF1 uc003uoi.3 P60896 OTTHUMG00000150680 ENST00000444799.1:c.170+21402T>C chr7.hg19:g.96302707A>G NA Q13437|Q61067 hg19 0.02 -0.368376 GGCxTGA COVERED NOVEL SHFM1-007 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000319599.1 8 4.211507 KEEP 1 0 0 14 426 AA 0.995343 0.904836 0 - 3 60 108 0 0 7.674749 35 60 1050 83 ENST00000444799.1 0.078947 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 97506596 97506596 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:97506596G>A NA NA ASNS (4742 upstream) : AC079781.1 (28687 downstream) NA NA NA tagtagagacggggttttacc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.97506596G>A NA hg19 0.02 -0.201732 GACxGGG COVERED NOVEL 0 7 2.40707 KEEP 2 0 0 8 256 GG 0.99257 0.4869 0 3 60 88 0 0 6.365939 20 60 614 39 0.130435 0.490544 OCM2 4951 __UNKNOWN__ __UNKNOWN__ 7 97619653 97619653 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:97619653T>C ENST00000473987.2 - 2 137 P0CE71 OCM2_HUMAN oncomodulin 2 NA NA calcium ion binding (GO:0005509) lung(4) 4 gcctcagccttccgagtagct 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC156841 CCDS5653.1 7q21.2 2014-04-01 ENSG00000135175 ENSG00000135175 4951 EF-hand domain containing 34396 protein-coding gene gene with protein product NA Standard NM_006188 NM_006188 NA Approved uc003upc.3 P0CE71 OTTHUMG00000154162 ENST00000473987.2:c.308-234A>G chr7.hg19:g.97619653T>C NA P32930|Q6ISI5|Q75MW0 hg19 0.02 -0.31573 CCTxCCG COVERED NOVEL OCM2-002 KNOWN not_organism_supported|basic processed_transcript NA protein_coding OTTHUMT00000334189.2 3 5.115681 KEEP 0 0 0 17 543 TT 0.999366 0.817946 0 - 5 43 153 0 0 11.522591 29 60 851 60 ENST00000473987.2 0.147059 0.818465 LMTK2 22853 __UNKNOWN__ __UNKNOWN__ 7 97744870 97744870 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:97744870T>C ENST00000297293.5 + 1 396 NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 NA NA early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) acctgtaatctcagcactttg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853 17880 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 100 610989 NA 15005709 Standard NM_014916 NM_014916 NA Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.103+8278T>C chr7.hg19:g.97744870T>C NA A4D272|Q75MG7|Q9UPS3 hg19 CCDS5654.1 0.02 -0.315771 ATCxCAG COVERED NOVEL LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334560.1 3 3.009093 KEEP 0 0 0 10 318 TT 0.992708 0.812496 0 + 3 60 96 0 0 6.75307 28 60 865 69 ENST00000297293.5 0.096774 0.818465 BAIAP2L1 55971 __UNKNOWN__ __UNKNOWN__ 7 97928366 97928366 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:97928366T>C ENST00000005260.8 - 13 1638 NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 NA NA filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) ttcctcttgttgcccaggctg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF119666 CCDS34687.1 7q22.1 2012-10-04 ENSG00000006453 ENSG00000006453 55971 21649 protein-coding gene gene with protein product 611877 NA Standard NM_018842 NM_018842 NA Approved IRTKS uc003upj.3 Q9UHR4 OTTHUMG00000165117 ENST00000005260.8:c.1423-4943A>G chr7.hg19:g.97928366T>C NA A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8 hg19 CCDS34687.1 0.02 -0.210476 TGTxGCC COVERED NOVEL BAIAP2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334681.1 8 2.407205 KEEP 1 0 0 8 246 TT 0.99257 0.518282 0 - 3 60 103 1 0 7.92699 19 60 543 42 ENST00000005260.8 0.136364 0.522161 BAIAP2L1 55971 __UNKNOWN__ __UNKNOWN__ 7 97946444 97946444 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:97946444C>T ENST00000005260.8 - 6 702 BAIAP2L1_ENST00000462558.1_Intron NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 NA NA filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) ggattacaggcgtgagccacc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF119666 CCDS34687.1 7q22.1 2012-10-04 ENSG00000006453 ENSG00000006453 55971 21649 protein-coding gene gene with protein product 611877 NA Standard NM_018842 NM_018842 NA Approved IRTKS uc003upj.3 Q9UHR4 OTTHUMG00000165117 ENST00000005260.8:c.486+86G>A chr7.hg19:g.97946444C>T NA A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8 hg19 CCDS34687.1 0.02 2.448889 AGGxGTG COVERED NOVEL BAIAP2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334681.1 25 5.988364 KEEP 1 2 60 41 1439 CC 1 1 0 - 7 60 201 0 0 11.622616 123 60 4061 261 ENST00000005260.8 0.053846 1 BAIAP2L1 55971 __UNKNOWN__ __UNKNOWN__ 7 97946457 97946457 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:97946457A>G ENST00000005260.8 - 6 702 BAIAP2L1_ENST00000462558.1_Intron NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 NA NA filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) gagccaccgcacccggcTAAC 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF119666 CCDS34687.1 7q22.1 2012-10-04 ENSG00000006453 ENSG00000006453 55971 21649 protein-coding gene gene with protein product 611877 NA Standard NM_018842 NM_018842 NA Approved IRTKS uc003upj.3 Q9UHR4 OTTHUMG00000165117 ENST00000005260.8:c.486+73T>C chr7.hg19:g.97946457A>G NA A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8 hg19 CCDS34687.1 0.02 5.850371 CGCxCCC COVERED NOVEL BAIAP2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334681.1 25 6.085796 KEEP 0 2 74 46 1421 AA 1 1 0 - 6 60 211 0 0 13.212834 134 60 3922 287 ENST00000005260.8 0.042857 1 TRRAP 8295 __UNKNOWN__ __UNKNOWN__ 7 98479374 98479374 __UNKNOWN__ Intron SNP T T G rs139382203 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:98479374T>G ENST00000446306.3 + 2 161 TRRAP_ENST00000355540.3_Intron|TRRAP_ENST00000359863.4_Intron Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein NA NA chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276) phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) gtgtgtgtgtttgtgtgtgtg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF076974 CCDS5659.1, CCDS59066.1 7q21.2-q22.1 2010-06-22 ENSG00000196367 ENSG00000196367 8295 12347 protein-coding gene gene with protein product 603015 NA 9708738, 9885574 Standard NM_003496 NM_003496 NA Approved TR-AP, PAF400, Tra1 uc003upp.3 Q9Y4A5 OTTHUMG00000150403 ENST00000446306.3:c.101-224T>G chr7.hg19:g.98479374T>G NA A4D265|O75218|Q9Y631|Q9Y6H4 hg19 0.02 3.391551 TGTxTGT COVERED NOVEL TRRAP-004 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000317981.3 19 10.162825 KEEP 0 1 32 45 1375 TT 1 0.999999 0 + 6 60 201 0 0 12.693158 111 60 3172 241 ENST00000446306.3 0.051282 0.999999 SMURF1 57154 __UNKNOWN__ __UNKNOWN__ 7 98649731 98649731 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:98649731A>C ENST00000361368.2 - 7 960 SMURF1_ENST00000361125.1_Intron NM_001199847.1|NM_181349.2 NP_001186776.1|NP_851994.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 NA NA BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842) endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) gcactccagcatgggtgacag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046845 CCDS34689.1, CCDS34690.1 7q21.1-q31.1 2004-07-29 ENSG00000198742 ENSG00000198742 57154 16807 protein-coding gene gene with protein product 605568 NA 10458166 Standard NM_020429 NM_020429 NA Approved KIAA1625 uc003upu.2 Q9HCE7 OTTHUMG00000150272 ENST00000361368.2:c.721+96T>G chr7.hg19:g.98649731A>C NA A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8 hg19 CCDS34689.1 0.02 -0.420762 AGCxTGG COVERED NOVEL SMURF1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059366.2 3 5.105321 KEEP 0 0 0 17 516 AA 0.999366 0.959251 0 - 4 60 132 0 1 9.332918 39 60 1118 86 ENST00000361368.2 0.093023 0.959859 BUD31 8896 __UNKNOWN__ __UNKNOWN__ 7 99014955 99014955 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99014955T>C ENST00000431419.1 + 3 254 BUD31_ENST00000222969.5_Intron|BUD31_ENST00000456893.1_Intron|PTCD1_ENST00000292478.4_3'UTR|BUD31_ENST00000403633.2_Intron P41223 BUD31_HUMAN BUD31 homolog (S. cerevisiae) NA NA regulation of transcription from RNA polymerase II promoter (GO:0006357) nucleus (GO:0005634) sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1) 4 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ggattacaggtgtgagccact 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022821 CCDS5663.1 7q22.1 2012-06-07 2007-01-12 2006-03-16 ENSG00000106245 ENSG00000106245 8896 29629 protein-coding gene gene with protein product G10 maternal transcript homolog (Xenopus laevis), functional spliceosome-associated protein 17 603477 BUD31 homolog (yeast) NA 7841202 Standard NM_003910 NM_003910 NA Approved YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14 uc003uqg.4 P41223 OTTHUMG00000154602 ENST00000431419.1:c.131-97T>C chr7.hg19:g.99014955T>C NA A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1 hg19 0.02 3.851034 AGGxGTG COVERED NOVEL BUD31-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336278.1 18 10.089725 KEEP 1 2 70 58 1682 TT 1 0.999998 0 + 5 60 172 0 0 10.699247 108 60 3085 239 ENST00000431419.1 0.044248 0.999998 ATP5J2-PTCD1 100526740 __UNKNOWN__ __UNKNOWN__ 7 99032990 99032990 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99032990G>A ENST00000413834.1 - 3 144 PTCD1_ENST00000292478.4_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron ATP5J2-PTCD1 readthrough NA NA NA ggccaggcgcggtggctcatg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56496.1 7q22.1 2011-02-21 ENSG00000248919 ENSG00000248919 100526740 38844 other readthrough NA Standard NM_001198879.1 NM_001198879 NA Approved uc011kiw.2 OTTHUMG00000160779 ENST00000413834.1:c.122-99C>T chr7.hg19:g.99032990G>A NA hg19 CCDS56496.1 0.02 1.219186 CGCxGTG COVERED NOVEL ATP5J2-PTCD1-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362258.1 5 5.55231 KEEP 0 1 30 29 993 GG 0.999997 0.999765 0 - 5 60 155 0 0 9.742649 76 60 2485 152 ENST00000413834.1 0.061728 0.999768 ZNF394 84124 __UNKNOWN__ __UNKNOWN__ 7 99090902 99090902 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99090902T>C ENST00000426306.2 - 0 1979 ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000337673.6_3'UTR Q53GI3 ZN394_HUMAN zinc finger protein 394 NA NA transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ttttttgagatggagtctcgc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(24;589 697 9939 12704 40742) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025241 CCDS5666.1 7q22.1 2014-01-28 ENSG00000160908 ENSG00000160908 84124 Zinc fingers, C2H2-type, -, -, - 18832 protein-coding gene gene with protein product NA Standard NM_032164 NM_032164 NA Approved ZKSCAN14, FLJ12298, ZSCAN46 uc003uqs.3 Q53GI3 OTTHUMG00000154660 ENST00000426306.2:c.*1320A>G chr7.hg19:g.99090902T>C NA A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51 hg19 0.02 7.07748 AGAxGGA COVERED NOVEL ZNF394-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336499.1 44 13.917377 KEEP 0 6 173 107 3329 TT 1 1 0 - 9 60 311 0 2 19.213015 204 60 6069 505 ENST00000426306.2 0.042254 1 ZNF394 84124 __UNKNOWN__ __UNKNOWN__ 7 99090942 99090942 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99090942T>C ENST00000426306.2 - 0 1939 ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000337673.6_3'UTR Q53GI3 ZN394_HUMAN zinc finger protein 394 NA NA transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) tgcagtggcatgatctcagct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(24;589 697 9939 12704 40742) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025241 CCDS5666.1 7q22.1 2014-01-28 ENSG00000160908 ENSG00000160908 84124 Zinc fingers, C2H2-type, -, -, - 18832 protein-coding gene gene with protein product NA Standard NM_032164 NM_032164 NA Approved ZKSCAN14, FLJ12298, ZSCAN46 uc003uqs.3 Q53GI3 OTTHUMG00000154660 ENST00000426306.2:c.*1280A>G chr7.hg19:g.99090942T>C NA A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51 hg19 0.02 3.078244 GCAxGAT COVERED NOVEL ZNF394-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336499.1 8 8.650447 KEEP 0 3 71 54 1687 TT 1 1 0 - 6 60 169 1 1 9.378983 117 60 3504 230 ENST00000426306.2 0.04878 1 ZNF394 84124 __UNKNOWN__ __UNKNOWN__ 7 99091097 99091097 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99091097T>C ENST00000426306.2 - 0 1784 ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000337673.6_3'UTR Q53GI3 ZN394_HUMAN zinc finger protein 394 NA NA transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ccaggctggtttcaaactcct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(24;589 697 9939 12704 40742) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025241 CCDS5666.1 7q22.1 2014-01-28 ENSG00000160908 ENSG00000160908 84124 Zinc fingers, C2H2-type, -, -, - 18832 protein-coding gene gene with protein product NA Standard NM_032164 NM_032164 NA Approved ZKSCAN14, FLJ12298, ZSCAN46 uc003uqs.3 Q53GI3 OTTHUMG00000154660 ENST00000426306.2:c.*1125A>G chr7.hg19:g.99091097T>C NA A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51 hg19 0.02 1.546917 GGTxTCA COVERED NOVEL ZNF394-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336499.1 9 8.122112 KEEP 1 0 0 27 780 TT 0.999988 0.999927 0 - 5 60 153 1 0 9.28802 86 60 2330 156 ENST00000426306.2 0.054945 0.99994 GS1-259H13.10 0 __UNKNOWN__ __UNKNOWN__ 7 99172136 99172136 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99172136G>A ENST00000455905.1 + 2 256 ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_3'UTR|ZNF655_ENST00000394163.2_3'UTR|ZNF655_ENST00000419215.2_3'UTR NA NA NA aagtgctggggttacaggcgt 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000455905.1:c.136+13818G>A chr7.hg19:g.99172136G>A NA hg19 0.02 2.755651 GGGxTTA COVERED NOVEL GS1-259H13.10-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000344945.1 30 15.951124 KEEP 0 0 0 53 1902 GG 1 1 0 + 7 60 192 0 0 10.82526 120 60 4026 286 ENST00000455905.1 0.055118 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 99230170 99230170 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99230170G>A NA NA ZSCAN25 (140 upstream) : CYP3A5 (15646 downstream) NA NA NA ttacacctgtgatcccaccac 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.99230170G>A NA hg19 0.02 -0.350786 TGTxATC COVERED NOVEL 0 3 2.407764 KEEP 0 0 0 8 274 GG 0.99257 0.871187 0 4 60 113 0 0 7.661232 34 60 1056 53 0.105263 0.877708 GJC3 349149 __UNKNOWN__ __UNKNOWN__ 7 99521404 99521404 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99521404G>A ENST00000312891.2 - 2 781 NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa NA NA cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605) connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209) breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) accctcagaaggctggtcaaa 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF503615 CCDS34697.1 7q22.1 2008-09-04 2007-11-06 2007-11-06 ENSG00000176402 ENSG00000176402 349149 Ion channels / Gap junction proteins (connexins) 17495 protein-coding gene gene with protein product connexin 30.2 611925 gap junction protein, epsilon 1, 29kDa GJE1 NA Standard NM_181538 NM_181538 NA Approved CX30.2 uc011kjd.2 Q8NFK1 OTTHUMG00000156649 ENST00000312891.2:c.782-178C>T chr7.hg19:g.99521404G>A NA A4D296|Q86XI9 hg19 CCDS34697.1 0.02 -0.157534 GAAxGCT COVERED NOVEL GJC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345052.1 0 2.407859 KEEP 0 0 0 8 282 GG 0.99257 0.320408 0 - 10 60 270 0 0 26.363772 8 60 253 26 ENST00000312891.2 0.555556 0.322807 AZGP1 563 __UNKNOWN__ __UNKNOWN__ 7 99567945 99567945 __UNKNOWN__ Intron SNP T T C rs34183830 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99567945T>C ENST00000292401.4 - 2 474 AZGP1_ENST00000411734.1_Intron NM_001185.3 NP_001176.1 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634) glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) tggctcactgtaacctctgcc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC005306 CCDS5680.1 7q22.1 2013-01-11 2006-11-07 ENSG00000160862 ENSG00000160862 563 Immunoglobulin superfamily / C1-set domain containing 910 protein-coding gene gene with protein product 194460 alpha-2-glycoprotein 1, zinc NA 2049092 Standard NM_001185 NM_001185 NA Approved ZA2G, ZAG uc003ush.3 P25311 OTTHUMG00000023066 ENST00000292401.4:c.337+1423A>G chr7.hg19:g.99567945T>C NA D6W5T8|O60386|Q5XKQ4|Q8N4N0 hg19 CCDS5680.1 0.02 -0.31567 CTGxAAC COVERED NOVEL AZGP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059387.4 3 3.610311 KEEP 1 0 0 12 355 TT 0.993634 0.813254 0 - 4 60 141 0 0 10.957483 25 60 681 67 ENST00000292401.4 0.137931 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 99576431 99576431 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99576431A>G NA NA AZGP1 (2651 upstream) : AZGP1P1 (1953 downstream) NA NA NA acatagtgagaagtgaccaga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.99576431A>G NA hg19 0.02 -0.280652 GAGxAGT COVERED NOVEL 0 2 3.008484 KEEP 1 0 0 10 301 AA 0.992708 0.734278 0 3 47 93 0 0 6.453917 28 60 837 53 0.096774 0.739671 AP4M1 9179 __UNKNOWN__ __UNKNOWN__ 7 99702409 99702409 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99702409A>G ENST00000359593.4 + 8 764 AP4M1_ENST00000422582.1_Intron|AP4M1_ENST00000421755.1_Intron|AP4M1_ENST00000429084.1_Intron NM_004722.3 NP_004713.2 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit NA NA Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802) transporter activity (GO:0005215) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) agccgagatcacgccactgcc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(174;1182 2812 29595 49511) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y08387 CCDS5685.1 7q22.1 2012-06-29 ENSG00000221838 ENSG00000221838 9179 574 protein-coding gene gene with protein product mu-adaptin-related protein-2, mu subunit of AP-4, AP-4 adapter complex mu subunit, adaptor-related protein complex AP-4 mu4 subunit 602296 NA 9013859, 10066790, 21620353 Standard NM_004722 NM_004722 NA Approved MU-ARP2, MU-4, SPG50 uc003utb.4 O00189 OTTHUMG00000154722 ENST00000359593.4:c.607-88A>G chr7.hg19:g.99702409A>G NA D6W5U1|Q8WV65|Q9UHK9 hg19 CCDS5685.1 0.02 1.85359 ATCxCGC COVERED NOVEL AP4M1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336772.4 2 6.017976 KEEP 0 0 0 20 618 AA 0.999863 0.989407 0 + 5 60 165 0 0 11.571994 51 60 1522 106 ENST00000359593.4 0.089286 0.989542 GAL3ST4 79690 __UNKNOWN__ __UNKNOWN__ 7 99757275 99757275 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99757275A>G ENST00000360039.4 - 0 2129 GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_3'UTR NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 NA NA cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) cctgggaggcagaggttgcag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF316113 CCDS5688.1 7q22.1 2007-04-02 ENSG00000197093 ENSG00000197093 79690 Sulfotransferases, membrane-bound 24145 protein-coding gene gene with protein product 608235 NA 11333265 Standard NM_024637 NM_024637 NA Approved FLJ12116 uc003utu.3 Q96RP7 OTTHUMG00000154885 ENST00000360039.4:c.*276T>C chr7.hg19:g.99757275A>G NA A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78 hg19 CCDS5688.1 0.02 -0.394644 GGCxGAG COVERED NOVEL GAL3ST4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337495.2 13 4.512965 KEEP 3 0 0 15 464 AA 0.99649 0.931212 0 - 3 60 98 0 0 6.573389 38 60 1124 82 ENST00000360039.4 0.073171 0.934492 GATS 352954 __UNKNOWN__ __UNKNOWN__ 7 99866601 99866601 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:99866601T>C ENST00000436886.2 - 1 395 GATS_ENST00000543273.1_RNA NM_178831.6 NP_849153.3 Q8NAP1 GATS_HUMAN GATS, stromal antigen 3 opposite strand NA NA endometrium(2)|large_intestine(2)|lung(4) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ggcgccactgtactccagcct 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095056 CCDS43621.1 7q22.1 2014-08-13 2009-04-08 2009-04-08 ENSG00000160844 ENSG00000239521 352954 29954 protein-coding gene gene with protein product stromal antigen 3 opposite strand NA 12477932 Standard NM_178831 NM_178831 NA Approved DKFZp686B07267, STAG3OS uc003uua.4 Q8NAP1 OTTHUMG00000155289 ENST00000436886.2:c.146+2859A>G chr7.hg19:g.99866601T>C NA D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9 hg19 CCDS43621.1 0.02 -0.14032 CTGxACT COVERED NOVEL GATS-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 10 3.302439 KEEP 7 0 0 11 290 TT 0.99254 0.259018 0 - 3 60 99 0 0 8.282307 10 60 277 44 ENST00000436886.2 0.230769 0.260965 AGFG2 3268 __UNKNOWN__ __UNKNOWN__ 7 100149630 100149630 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100149630A>G ENST00000300176.4 + 4 553 AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_Intron NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 NA NA regulation of ARF GTPase activity (GO:0032312) membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 actttgggagaccgaggcggg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF015042 CCDS5697.1 7q22.1 2008-09-22 2008-09-22 2008-09-22 ENSG00000106351 ENSG00000106351 3268 ADP-ribosylation factor GTPase activating proteins 5177 protein-coding gene gene with protein product 604019 HIV-1 Rev binding protein-like HRBL NA 9799793 Standard NM_006076 XM_005250306 NA Approved RABR uc003uvf.3 O95081 OTTHUMG00000156029 ENST00000300176.4:c.432-1340A>G chr7.hg19:g.100149630A>G NA O75429|Q96AB9|Q96GL4 hg19 CCDS5697.1 0.02 -0.236739 GAGxCCG COVERED NOVEL AGFG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342769.1 11 4.513702 KEEP 0 0 0 15 471 AA 0.99649 0.610258 0 + 4 60 114 0 0 8.620688 20 60 598 61 ENST00000300176.4 0.166667 0.612407 FBXO24 26261 __UNKNOWN__ __UNKNOWN__ 7 100189633 100189633 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100189633T>C ENST00000241071.6 + 4 880 FBXO24_ENST00000465843.1_Intron|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Intron|FBXO24_ENST00000427939.2_Intron|FBXO24_ENST00000360609.2_Intron NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 NA NA protein ubiquitination (GO:0016567) ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842) NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) cctgtaatcctagcactttgg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF174604 CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1 7q22 2005-10-07 2004-06-15 ENSG00000106336 ENSG00000106336 26261 F-boxes / other 13595 protein-coding gene gene with protein product 609097 F-box only protein 24 NA 10531035, 10531037 Standard NM_012172 NA Approved FBX24 uc011kjz.1 O75426 OTTHUMG00000159543 ENST00000241071.6:c.558+108T>C chr7.hg19:g.100189633T>C NA A4D2D4|B4DX91|B4DY42|Q9H0G1 hg19 CCDS5698.1 0.02 -0.236575 TCCxAGC COVERED NOVEL FBXO24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356104.1 3 2.406685 KEEP 1 0 0 8 247 TT 0.99257 0.607857 0 + 5 60 170 0 0 13.861844 21 60 542 42 ENST00000241071.6 0.192308 0.612407 MOSPD3 64598 __UNKNOWN__ __UNKNOWN__ 7 100210010 100210010 __UNKNOWN__ Intron SNP G G C rs575914456 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100210010G>C ENST00000223054.4 + 1 140 NM_001040097.1 NP_001035186.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 NA NA heart development (GO:0007507) integral component of membrane (GO:0016021) structural molecule activity (GO:0005198) breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCGCTGCAGCGGGCGGAGTCT 0.726 NA G||| 1 0.000199681 8e-04 0 5008 , , NA 10668 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC011653 CCDS5701.1, CCDS47662.1 7q22 2009-11-06 ENSG00000106330 ENSG00000106330 64598 25078 protein-coding gene gene with protein product 609125 NA 15533722 Standard NM_023948 XM_005250531 NA Approved CDS3, NET30 uc003uvs.3 O75425 OTTHUMG00000159599 ENST00000223054.4:c.-63+146G>C chr7.hg19:g.100210010G>C NA A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424 hg19 CCDS5701.1 0.02 -0.271875 AGCxGGC COVERED NOVEL MOSPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356394.1 1 5.115549 KEEP 0 0 0 17 545 GG 0.999366 0.716861 0 + 15 60 479 0 0 45.732078 16 60 483 56 ENST00000223054.4 0.483871 0.717315 ZAN 7455 __UNKNOWN__ __UNKNOWN__ 7 100382040 100382040 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100382040A>G ENST00000348028.3 + 0 6786 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) NA NA binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) gtgagccaccatgcccagccg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U83191 7q22.1 2013-10-10 2013-10-10 ENSG00000146839 ENSG00000146839 7455 12857 protein-coding gene gene with protein product 602372 zonadhesin NA 9799793, 17033959 Standard NM_003386 NM_003386 NA Approved uc003uwk.3 Q9Y493 OTTHUMG00000157037 ENST00000348028.3: chr7.hg19:g.100382040A>G NA A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88 hg19 0.02 -0.289392 ACCxTGC COVERED NOVEL ZAN-006 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000347214.1 8 2.407199 KEEP 1 0 0 8 250 AA 0.99257 0.755234 0 + 3 41 98 0 0 6.998078 27 60 771 63 ENST00000348028.3 0.1 0.760887 MUC3A 4584 __UNKNOWN__ __UNKNOWN__ 7 100608573 100608573 __UNKNOWN__ Intron SNP G G C rs10251415 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100608573G>C ENST00000319509.7 + 7 2107 RP11-395B7.2_ENST00000420080.1_RNA Q02505 MUC3A_HUMAN mucin 3A, cell surface associated NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AGGGTGCTGGGGGTGGCCTCC 0.617 NA G||| 2006 0.400559 0.2769 0.5692 5008 , , NA 15156 0.5536 NA 0.3449 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF113616 7q22.1 2012-04-20 2006-03-14 ENSG00000169894 ENSG00000169894 4584 Mucins 7513 protein-coding gene gene with protein product 158371 mucin 3A, intestinal MUC3 NA 2393399, 10973822 Standard XM_001725354 XM_006710192 NA Approved uc003uxl.1 Q02505 OTTHUMG00000157038 ENST00000319509.7:c.2108-156G>C chr7.hg19:g.100608573G>C NA O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95 hg19 0.02 -0.305967 TGGxGGT COVERED NOVEL MUC3A-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000347215.1 2 3.91229 KEEP 0 0 0 13 435 GG 0.994391 0.813874 0 + 10 60 329 0 0 29.403409 20 60 576 54 ENST00000319509.7 0.333333 0.818465 MUC12 10071 __UNKNOWN__ __UNKNOWN__ 7 100643427 100643427 __UNKNOWN__ Missense_Mutation SNP G G A rs140412967 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100643427G>A ENST00000379442.3 + 5 10012 c.10012G>A c.(10012-10014)Ggc>Agc p.G3338S MUC12_ENST00000536621.1_Missense_Mutation_p.G3195S Q9UKN1 MUC12_HUMAN mucin 12, cell surface associated 3338 28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich. NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558) Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887) breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13) 25 CTTCCACAGCGGCCCAGGCTC 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1508 1321 1377 NA NA NA 7 NA NA 100643427 692 1591 2283 SO:0001583 missense AF147790, AF147791 CCDS55139.1 7q22 2007-01-17 2006-03-14 ENSG00000205277 ENSG00000205277 10071 Mucins 7510 protein-coding gene gene with protein product 604609 mucin 11 MUC11 NA 10463611 Standard XM_379904 NM_001164462 NA Approved uc003uxo.3 Q9UKN1 OTTHUMG00000157042 ENST00000379442.3:c.10012G>A chr7.hg19:g.100643427G>A ENSP00000368755:p.Gly3338Ser NA A6ND38|F5GWV9|Q9UKN0 hg19 0.02 2.752773 AGCxGCC COVERED . . . . . . . . . . a 1.388 -0.581540 0.03854 . . ENSG00000205277 ENST00000379442;ENST00000536621 T;T 0.15952 2.38;2.38 0.49 -0.803 0.10886 . . . . . T 0.05364 0.0142 N 0.08118 0 0.09310 N 1 . . . . . . T 0.37641 -0.9697 6 0.07813 T 0.8 . . . . . . . . S 3338;3195 ENSP00000368755:G3338S;ENSP00000441929:G3195S ENSP00000368755:G3338S G + 1 0 MUC12 100430147 0.029000 0.19370 0.004000 0.12327 0.027000 0.11550 0.369000 0.20416 -1.586000 0.01632 -1.451000 0.01035 GGC NOVEL MUC12-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000347234.1 9 10.204147 KEEP 1 1 8 37 1157 GG 1 1 0 + 8 25 236 0 0 14.442279 120 60 3583 184 ENST00000379442.3 0.0625 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100681460 100681460 __UNKNOWN__ Missense_Mutation SNP A A G rs144955715 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100681460A>G ENST00000306151.4 + 3 6827 c.6763A>G c.(6763-6765)Act>Gct p.T2255A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2255 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GACCACTTCTACTGAAGCCAC 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 280 285 283 NA NA NA 7 NA NA 100681460 2203 4297 6500 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.6763A>G chr7.hg19:g.100681460A>G ENSP00000302716:p.Thr2255Ala NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 3.939321 TCTxCTG COVERED . . . . . . . . . . A 4.354 0.065153 0.08388 . . ENSG00000169876 ENST00000306151 T 0.02258 4.37 1.65 -3.3 0.05003 . . . . . T 0.01287 0.0042 N 0.24115 0.695 0.09310 N 1 B 0.14438 0.01 B 0.08055 0.003 T 0.48801 -0.9003 9 0.07813 T 0.8 . 3.6036 0.08034 0.3157:0.0:0.4762:0.208 . 2255 Q685J3 MUC17_HUMAN A 2255 ENSP00000302716:T2255A ENSP00000302716:T2255A T + 1 0 MUC17 100468180 0.000000 0.05858 0.000000 0.03702 0.024000 0.10985 -3.385000 0.00489 -1.304000 0.02329 0.113000 0.15668 ACT NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 10 13.677418 KEEP 10 4 145 96 2872 AA 1 0.999991 0 + 6 55 211 1 0 14.033703 97 60 2721 311 ENST00000306151.4 0.058252 0.999991 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100681510 100681510 __UNKNOWN__ Silent SNP T T C rs116767656 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100681510T>C ENST00000306151.4 + 3 6877 c.6813T>C c.(6811-6813)acT>acC p.T2271T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2271 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCATACCAACTTCAACTCTTA 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 262 265 264 NA NA NA 7 NA NA 100681510 2203 4300 6503 SO:0001819 synonymous_variant AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.6813T>C chr7.hg19:g.100681510T>C NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 3.84749 AACxTCA COVERED NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 5 2.606327 KEEP 1 6 204 80 2560 TT 1 0.999987 0 + 6 60 202 0 0 13.133594 97 60 2924 273 ENST00000306151.4 0.058252 0.999987 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100681947 100681947 __UNKNOWN__ Missense_Mutation SNP A A T rs139220229 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100681947A>T ENST00000306151.4 + 3 7314 c.7250A>T c.(7249-7251)cAt>cTt p.H2417L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2417 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCTAGCACCCATTCCACAACT 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 386 369 375 NA NA NA 7 NA NA 100681947 2203 4300 6503 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.7250A>T chr7.hg19:g.100681947A>T ENSP00000302716:p.His2417Leu NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 2.929829 CCCxTTC COVERED . . . . . . . . . . N 1.961 -0.438892 0.04636 . . ENSG00000169876 ENST00000306151 T 0.02472 4.28 1.43 0.404 0.16355 . . . . . T 0.00998 0.0033 N 0.01576 -0.805 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.47774 -0.9091 9 0.11485 T 0.65 . 3.3547 0.07164 0.245:0.5788:0.0:0.1763 . 2417 Q685J3 MUC17_HUMAN L 2417 ENSP00000302716:H2417L ENSP00000302716:H2417L H + 2 0 MUC17 100468667 0.003000 0.15002 0.000000 0.03702 0.002000 0.02628 0.019000 0.13444 -0.658000 0.05366 -1.625000 0.00788 CAT NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 13 7.721358 KEEP 6 6 186 91 2755 AA 1 0.999999 0 + 6 40 171 0 0 10.104707 95 60 2795 303 ENST00000306151.4 0.059406 0.999999 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100681951 100681951 __UNKNOWN__ Silent SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100681951C>A ENST00000306151.4 + 3 7318 c.7254C>A c.(7252-7254)tcC>tcA p.S2418S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2418 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACCCATTCCACAACTCCTG 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 380 365 370 NA NA NA 7 NA NA 100681951 2203 4300 6503 SO:0001819 synonymous_variant AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.7254C>A chr7.hg19:g.100681951C>A NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 2.705461 TTCxACA COVERED NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 13 10.536905 KEEP 7 6 170 95 3296 CC 1 0.999999 0 + 6 60 174 0 0 10.393831 95 60 3225 312 ENST00000306151.4 0.059406 0.999999 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100683008 100683008 __UNKNOWN__ Missense_Mutation SNP G G C rs553466928 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100683008G>C ENST00000306151.4 + 3 8375 c.8311G>C c.(8311-8313)Gtt>Ctt p.V2771L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2771 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCTAGCACCGTTTCAACAAC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 253 244 247 NA NA NA 7 NA NA 100683008 2203 4300 6503 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.8311G>C chr7.hg19:g.100683008G>C ENSP00000302716:p.Val2771Leu NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 1.62544 ACCxTTT COVERED . . . . . . . . . . C 1.355 -0.590474 0.03799 . . ENSG00000169876 ENST00000306151 T 0.01599 4.74 0.587 0.587 0.17439 . . . . . T 0.00754 0.0025 N 0.04508 -0.205 0.09310 N 1 P 0.38677 0.642 B 0.29524 0.103 T 0.47471 -0.9115 8 0.16420 T 0.52 . . . . . 2771 Q685J3 MUC17_HUMAN L 2771 ENSP00000302716:V2771L ENSP00000302716:V2771L V + 1 0 MUC17 100469728 0.000000 0.05858 0.000000 0.03702 0.014000 0.08584 -1.463000 0.02361 -0.192000 0.10432 -1.314000 0.01303 GTT NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 5 15.949716 KEEP 0 0 0 53 1763 GG 1 0.999726 0 + 4 60 134 0 0 8.287918 82 60 2679 189 ENST00000306151.4 0.046512 0.999726 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100683020 100683020 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100683020G>C ENST00000306151.4 + 3 8387 c.8323G>C c.(8323-8325)Gct>Cct p.A2775P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2775 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTCAACAACTGCTGTTGACAC 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.8323G>C chr7.hg19:g.100683020G>C ENSP00000302716:p.Ala2775Pro NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 1.534594 ACTxCTG COVERED . . . . . . . . . . C 0.121 -1.126082 0.01770 . . ENSG00000169876 ENST00000306151 T 0.02421 4.3 0.661 -1.32 0.09201 . . . . . T 0.00998 0.0033 N 0.01352 -0.895 0.09310 N 1 B 0.17667 0.023 B 0.06405 0.002 T 0.44375 -0.9332 9 0.18710 T 0.47 . 4.9331 0.13926 0.1809:0.3984:0.4206:0.0 . 2775 Q685J3 MUC17_HUMAN P 2775 ENSP00000302716:A2775P ENSP00000302716:A2775P A + 1 0 MUC17 100469740 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -5.294000 0.00134 -2.664000 0.00417 -2.023000 0.00429 GCT NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 6 13.177578 KEEP 0 1 32 55 1942 GG 1 0.999726 0 + 4 60 131 0 0 8.052164 79 60 2676 185 ENST00000306151.4 0.048193 0.999726 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100684810 100684810 __UNKNOWN__ Silent SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100684810C>G ENST00000306151.4 + 3 10177 c.10113C>G c.(10111-10113)gtC>gtG p.V3371V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3371 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTGTCACCACTTCTA 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 290 303 299 NA NA NA 7 NA NA 100684810 2203 4300 6503 SO:0001819 synonymous_variant AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.10113C>G chr7.hg19:g.100684810C>G NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 3.959291 TGTxACC COVERED NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 7 17.792523 KEEP 2 1 34 71 2489 CC 1 0.999997 0 + 5 60 169 0 0 10.381623 109 60 3681 266 ENST00000306151.4 0.04386 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 100711289 100711289 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100711289T>C NA NA MUC17 (9269 upstream) : TRIM56 (17430 downstream) NA NA NA ctctgcctcctgggttcaagt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.100711289T>C NA hg19 0.02 -0.298204 TCCxGGG UNCOVERED NOVEL 0 28 2.707556 KEEP 12 0 0 9 272 TT 0 0 0 3 60 97 0 0 6.992753 25 60 754 68 0.107143 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 100786223 100786223 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100786223C>T NA NA SERPINE1 (3676 upstream) : AP1S1 (11454 downstream) NA NA NA ggattacaggcgtgagccact 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.100786223C>T NA hg19 0.02 -0.298234 AGGxGTG COVERED NOVEL 0 7 2.407396 KEEP 0 0 0 8 268 CC 0.99257 0.775257 0 4 60 117 0 0 8.375855 28 60 910 57 0.125 0.78106 ZNHIT1 10467 __UNKNOWN__ __UNKNOWN__ 7 100861597 100861597 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100861597T>C ENST00000305105.2 + 1 550 ZNHIT1_ENST00000492315.1_Intron NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 NA NA negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129) nucleus (GO:0005634) chromatin binding (GO:0003682)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) ctctttcgcctaggctggagt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF093571 CCDS5716.1 7q22.1 2010-09-15 2010-09-15 2003-08-08 ENSG00000106400 ENSG00000106400 10467 Zinc fingers, HIT-type 21688 protein-coding gene gene with protein product putative cyclin G1 interacting protein zinc finger protein, subfamily 4A (HIT domain containing), member 1, zinc finger, HIT domain containing 1 ZNFN4A1 NA Standard NM_006349 NM_006349 NA Approved CG1I, H_DJ0747G18.14 uc003uye.3 O43257 OTTHUMG00000157113 ENST00000305105.2:c.22+99T>C chr7.hg19:g.100861597T>C NA Q6IB12 hg19 CCDS5716.1 0.02 1.543595 GCCxAGG COVERED NOVEL ZNHIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347488.1 2 17.731841 KEEP 0 1 37 72 2132 TT 1 0.999622 0 + 5 60 169 2 0 11.167585 75 60 2159 195 ENST00000305105.2 0.0625 0.999622 FIS1 51024 __UNKNOWN__ __UNKNOWN__ 7 100895037 100895037 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100895037A>G ENST00000474120.1 - 1 422 Q9Y3D6 FIS1_HUMAN fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) NA NA calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836) integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234) receptor binding (GO:0005102) kidney(1)|large_intestine(2)|lung(1) 4 Lung NSC(181;0.168)|all_lung(186;0.215) ctgcactccaacctgggtgac 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151893 CCDS43626.1 7q22.1 2012-10-01 2006-04-04 2006-01-24 ENSG00000214253 ENSG00000214253 51024 21689 protein-coding gene gene with protein product CGI-135 protein 609003 tetratricopeptide repeat domain 11, fission 1 (mitochondrial outer membrane) homolog (yeast) TTC11 NA 14996942, 16010987 Standard NM_016068 NM_016068 NA Approved CGI-135, H_NH0132A01.6, Fis1 uc003uyj.4 Q9Y3D6 OTTHUMG00000157106 ENST00000474120.1:c.14+138T>C chr7.hg19:g.100895037A>G NA Q9BTP3 hg19 0.02 3.813293 CCAxCCT COVERED NOVEL FIS1-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000347453.2 12 28.05769 KEEP 0 2 77 120 3854 AA 1 1 0 - 6 60 207 1 0 12.990055 125 60 3693 331 ENST00000474120.1 0.045802 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 100929528 100929528 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100929528G>A NA NA RNU6-1104P (16206 upstream) : RP11-132A1.3 (13365 downstream) NA NA NA tatgctcatagatgggcctgg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.100929528G>A NA hg19 0.02 -0.210534 ATAxATG COVERED NOVEL 0 3 3.912708 KEEP 0 0 0 13 455 GG 0.994391 0.519232 0 3 45 89 0 0 6.406365 21 60 725 57 0.125 0.522161 RABL5 0 __UNKNOWN__ __UNKNOWN__ 7 100961319 100961319 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:100961319A>G ENST00000315322.4 - 3 300 RABL5_ENST00000498704.2_Intron|RABL5_ENST00000437644.2_Intron|RABL5_ENST00000517481.1_Intron|RABL5_ENST00000495166.1_Intron NM_022777.2 NP_073614.1 Q9H7X7 IFT22_HUMAN NA NA small GTPase mediated signal transduction (GO:0007264) centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) GTP binding (GO:0005525) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.215) aaagtgctggaattacaggtg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000315322.4:c.206+85T>C chr7.hg19:g.100961319A>G NA Q49AG1|Q69YV5|Q9BSW4 hg19 CCDS5719.1 0.02 1.567586 TGGxATT COVERED NOVEL RABL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347565.1 7 8.395974 KEEP 0 2 69 52 1667 AA 1 0.997163 0 - 4 60 129 0 0 8.343532 59 60 1759 141 ENST00000315322.4 0.063492 0.997163 COL26A1 136227 __UNKNOWN__ __UNKNOWN__ 7 101125009 101125009 __UNKNOWN__ RNA SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:101125009T>G ENST00000397927.3 + 0 598 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA NM_001278563.1 NP_001265492.1 Q96A83 COQA1_HUMAN collagen, type XXVI, alpha 1 NA NA collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) NA tgggattacatgcatgagcca 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AJ416091 CCDS64739.1 7q22.1 2013-01-16 2013-01-16 2013-01-16 ENSG00000160963 ENSG00000160963 136227 Collagens, EMI domain containing 18038 protein-coding gene gene with protein product Emu2 gene 608927 EMI domain containing 2 EMID2 NA 12221002, 12145293 Standard NM_133457 NM_001278563 NA Approved Emu2, EMI6 uc003uyo.1 Q96A83 OTTHUMG00000150033 ENST00000397927.3: chr7.hg19:g.101125009T>G NA Q32M90 hg19 0.02 3.784116 ACAxGCA COVERED NOVEL COL26A1-002 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000315898.2 13 6.658378 KEEP 0 4 146 73 2243 TT 1 1 0 + 6 60 186 0 0 11.275504 114 60 3307 310 ENST00000397927.3 0.05 1 CUX1 1523 __UNKNOWN__ __UNKNOWN__ 7 101895555 101895555 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:101895555G>C ENST00000560541.1 + 15 1843 CUX1_ENST00000360264.3_3'UTR|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_3'UTR|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron P39880 CUX1_HUMAN cut-like homeobox 1 NA NA auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GGAGTCTAAGGGTTAATCTCT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M74099 CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1 7q22.1 2012-10-03 2007-11-07 2007-11-07 ENSG00000257923 ENSG00000257923 1523 Homeoboxes / CUT class 2557 protein-coding gene gene with protein product golgi integral membrane protein 6 116896 cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila) CUTL1 NA 8468066, 9799793, 15004235 Standard NM_001913 NM_001202543 NA Approved CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6 uc003uyx.4 P39880 OTTHUMG00000157129 ENST00000560541.1:c.1844-21082G>C chr7.hg19:g.101895555G>C NA B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5 hg19 0.02 3.827411 AAGxGTT COVERED NOVEL CUX1-019 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000418419.1 5 32.801406 KEEP 0 0 0 109 3737 GG 1 1 0 + 42 60 1372 0 0 121.885193 87 60 2885 317 ENST00000560541.1 0.325581 1 RP11-514P8.2 0 __UNKNOWN__ __UNKNOWN__ 7 102071174 102071174 __UNKNOWN__ RNA SNP G G A rs113030515 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102071174G>A ENST00000468165.1 - 0 67 NA NA NA aaaggaagggggggaagggag 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000468165.1: chr7.hg19:g.102071174G>A NA hg19 0.02 -0.105262 GGGxGGG UNCOVERED NOVEL RP11-514P8.2-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000349518.1 5 3.009814 KEEP 0 0 0 10 352 GG 0.992708 0.138812 0 - 3 60 91 0 0 7.878433 7 60 225 37 ENST00000468165.1 0.3 0.139832 ORAI2 80228 __UNKNOWN__ __UNKNOWN__ 7 102093170 102093170 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102093170C>T ENST00000356387.2 + 0 6671 NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 NA NA growth cone (GO:0030426)|integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 attacaggtgcgagccaccat 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF258552 CCDS5722.1 7q22.1 2007-08-14 2007-08-14 2007-08-14 ENSG00000160991 ENSG00000160991 80228 ORAI calcium release-activated calcium modulators 21667 protein-coding gene gene with protein product CAP-binding protein complex interacting protein 2 610929 chromosome 7 open reading frame 19, transmembrane protein 142B C7orf19, TMEM142B NA 16582901 Standard NM_032831 NM_001126340 NA Approved CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8 uc003uzj.3 Q96SN7 OTTHUMG00000157722 ENST00000356387.2:c.*5671C>T chr7.hg19:g.102093170C>T NA Q6IA68|Q8WY94|Q9H9Y3 hg19 CCDS5722.1 0.02 4.64003 GTGxGAG COVERED NOVEL ORAI2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349509.2 24 2.545961 KEEP 0 4 115 49 1745 CC 1 1 0 + 14 60 420 0 0 28.749442 130 70 4281 305 ENST00000356387.2 0.097222 1 RP11-514P8.6 0 __UNKNOWN__ __UNKNOWN__ 7 102259184 102259184 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102259184A>G ENST00000519541.1 - 6 974 NA NA NA ggctgaggcaagagaattgct 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000519541.1:c.846+5451T>C chr7.hg19:g.102259184A>G NA hg19 0.02 -0.333275 GCAxGAG COVERED NOVEL RP11-514P8.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000453067.1 14 2.708131 KEEP 1 0 0 9 287 AA 0.99257 0.845654 0 - 3 60 96 0 0 6.513489 34 60 1006 58 ENST00000519541.1 0.081081 0.851984 POLR2J2 246721 __UNKNOWN__ __UNKNOWN__ 7 102294312 102294312 __UNKNOWN__ Intron SNP C C T rs62483484 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102294312C>T ENST00000476151.1 - 4 442 SPDYE2B_ENST00000436228.2_Intron|SPDYE2B_ENST00000507450.1_Intron|POLR2J2_ENST00000333432.6_Intron|POLR2J2_ENST00000591000.1_Intron Q9GZM3 RPB1B_HUMAN polymerase (RNA) II (DNA directed) polypeptide J2 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899) skin(1) 1 TAAAGGTTGGCGCTTGGGATG 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43627.1 7q22.1 2014-08-12 ENSG00000228049 ENSG00000267645 246721 RNA polymerase subunits 23208 protein-coding gene gene with protein product 609881 NA 15586814 Standard NM_032959 NA Approved RPB11b1 uc010lij.2 Q9GZM3 OTTHUMG00000150388 ENST00000476151.1:c.345+12211G>A chr7.hg19:g.102294312C>T NA F6W009|Q9H1A8 hg19 CCDS43627.1 0.02 -0.131569 TGGxGCT UNCOVERED NOVEL POLR2J2-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000453068.1 5 2.407933 KEEP 19 0 0 8 289 CC 0 0 0 - 6 47 173 0 0 15.777085 9 47 298 49 ENST00000476151.1 0.4 0.229173 FBXL13 222235 __UNKNOWN__ __UNKNOWN__ 7 102453544 102453544 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102453544A>C ENST00000379308.3 - 0 2744 FBXL13_ENST00000393772.2_3'UTR|FBXL13_ENST00000379306.3_3'UTR Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 NA NA NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 gccttggcctaccaaagtgct 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC031285 CCDS5726.1, CCDS47678.1, CCDS75649.1 7q22.1 2014-07-18 ENSG00000161040 ENSG00000161040 222235 F-boxes / Leucine-rich repeats 21658 protein-coding gene gene with protein product 609080 NA Standard NM_145032 NM_145032 NA Approved MGC21636, Fbl13 uc003vaq.2 Q8NEE6 OTTHUMG00000157224 ENST00000379308.3:c.*245T>G chr7.hg19:g.102453544A>C NA C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0 hg19 CCDS47678.1 0.02 -0.368295 CCTxCCA COVERED NOVEL FBXL13-202 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000348005.1 4 5.852172 KEEP 1 1 33 31 959 AA 0.999997 0.899312 0 - 3 60 100 0 0 6.876007 35 60 981 96 ENST00000379308.3 0.078947 0.899314 ARMC10 83787 __UNKNOWN__ __UNKNOWN__ 7 102739179 102739179 __UNKNOWN__ 3'UTR SNP A A G rs34745227 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102739179A>G ENST00000441711.2 + 0 1498 ARMC10_ENST00000428183.2_3'UTR|ARMC10_ENST00000323716.3_3'UTR|ARMC10_ENST00000454559.1_3'UTR|ARMC10_ENST00000425331.1_3'UTR|ARMC10_ENST00000541300.1_3'UTR NM_001161009.2 NP_001154481.1 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 NA NA regulation of growth (GO:0040008) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGCCAAGTGAATATAAGAGCT 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY150853 CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1 7q22.1 2013-02-14 ENSG00000170632 ENSG00000170632 83787 Armadillo repeat containing 21706 protein-coding gene gene with protein product specific Splicing Variant involved in Hepatocarcinogenesis 611864 NA 12839973 Standard NM_031905 NM_031905 NA Approved MGC3195, SVH uc003vaw.2 Q8N2F6 OTTHUMG00000157201 ENST00000441711.2:c.*179A>G chr7.hg19:g.102739179A>G NA A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6 hg19 CCDS55146.1 0.02 3.569586 TGAxTAT COVERED NOVEL ARMC10-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347884.1 6 14.984581 KEEP 10 4 138 98 3108 AA 1 0.999997 0 + 9 49 290 0 0 19.629122 105 60 3119 295 ENST00000441711.2 0.078947 0.999997 ARMC10 83787 __UNKNOWN__ __UNKNOWN__ 7 102739654 102739654 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102739654T>A ENST00000441711.2 + 0 1973 ARMC10_ENST00000428183.2_3'UTR|ARMC10_ENST00000323716.3_3'UTR|ARMC10_ENST00000454559.1_3'UTR|ARMC10_ENST00000425331.1_3'UTR|ARMC10_ENST00000541300.1_3'UTR NM_001161009.2 NP_001154481.1 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 NA NA regulation of growth (GO:0040008) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 gcggtggctcttgcctgtaat 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY150853 CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1 7q22.1 2013-02-14 ENSG00000170632 ENSG00000170632 83787 Armadillo repeat containing 21706 protein-coding gene gene with protein product specific Splicing Variant involved in Hepatocarcinogenesis 611864 NA 12839973 Standard NM_031905 NM_031905 NA Approved MGC3195, SVH uc003vaw.2 Q8N2F6 OTTHUMG00000157201 ENST00000441711.2:c.*654T>A chr7.hg19:g.102739654T>A NA A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6 hg19 CCDS55146.1 0.02 4.313179 CTCxTGC COVERED NOVEL ARMC10-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347884.1 37 4.186198 KEEP 7 5 160 70 2294 TT 1 1 0 + 8 50 238 1 0 13.756832 156 60 4756 372 ENST00000441711.2 0.04878 1 ARMC10 83787 __UNKNOWN__ __UNKNOWN__ 7 102739945 102739945 __UNKNOWN__ 3'UTR SNP C C T rs200460623 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102739945C>T ENST00000441711.2 + 0 2264 ARMC10_ENST00000428183.2_3'UTR|ARMC10_ENST00000323716.3_3'UTR|ARMC10_ENST00000454559.1_3'UTR|ARMC10_ENST00000425331.1_3'UTR|ARMC10_ENST00000541300.1_3'UTR NM_001161009.2 NP_001154481.1 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 NA NA regulation of growth (GO:0040008) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 GATGGAGCTCCGAATGTGCTT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY150853 CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1 7q22.1 2013-02-14 ENSG00000170632 ENSG00000170632 83787 Armadillo repeat containing 21706 protein-coding gene gene with protein product specific Splicing Variant involved in Hepatocarcinogenesis 611864 NA 12839973 Standard NM_031905 NM_031905 NA Approved MGC3195, SVH uc003vaw.2 Q8N2F6 OTTHUMG00000157201 ENST00000441711.2:c.*945C>T chr7.hg19:g.102739945C>T NA A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6 hg19 CCDS55146.1 0.02 9.968694 CTCxGAA COVERED NOVEL ARMC10-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347884.1 204 11.842412 KEEP 24 12 351 163 5277 CC 1 1 0 + 19 52 546 0 0 32.267459 307 70 9384 754 ENST00000441711.2 0.058282 1 NAPEPLD 222236 __UNKNOWN__ __UNKNOWN__ 7 102742817 102742817 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102742817T>C ENST00000417955.1 - 0 2395 NAPEPLD_ENST00000341533.4_3'UTR Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D NA NA phospholipid catabolic process (GO:0009395) extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622) N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 gggtctcattttgtcgcccag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC037350, AY357337 CCDS5729.1 7q22.1 2014-03-14 ENSG00000161048 ENSG00000161048 222236 3.1.4.54 21683 protein-coding gene gene with protein product chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D 612334 NA 14634025, 15820312, 18067139 Standard NM_198990 NM_198990 NA Approved FMP30, C7orf18, NAPE-PLD uc003vbd.2 Q6IQ20 OTTHUMG00000157204 ENST00000417955.1:c.*1059A>G chr7.hg19:g.102742817T>C NA Q5CZ87|Q769K1 hg19 CCDS5729.1 0.02 -0.298202 ATTxTGT COVERED NOVEL NAPEPLD-002 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347904.1 6 3.308875 KEEP 0 0 0 11 344 TT 0.993072 0.775649 0 - 3 60 103 0 0 7.543965 26 60 769 56 ENST00000417955.1 0.103448 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 102935650 102935650 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102935650T>C NA NA DPY19L2P2 (14793 upstream) : PMPCB (2218 downstream) NA NA NA ggaggatcacttgaggtcagg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.102935650T>C NA hg19 0.02 -0.16662 CACxTGA COVERED NOVEL 0 8 2.708515 KEEP 1 0 0 9 295 TT 0.99254 0.351306 0 3 60 99 0 0 7.892067 14 60 406 38 0.176471 0.353947 PMPCB 9512 __UNKNOWN__ __UNKNOWN__ 7 102948051 102948051 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102948051C>T ENST00000249269.4 + 7 783 c.745C>T c.(745-747)Cat>Tat p.H249Y PMPCB_ENST00000428154.1_Missense_Mutation_p.H249Y|PMPCB_ENST00000420236.2_Missense_Mutation_p.H144Y NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 249 NA cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626) mitochondrial inner membrane (GO:0005743) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGGTGTTTCCCATGATGAATT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 110 97 102 NA NA NA 7 NA NA 102948051 2203 4300 6503 SO:0001583 missense AF054182 CCDS5730.1 7q22.1 2007-07-30 ENSG00000105819 ENSG00000105819 9512 9119 protein-coding gene gene with protein product 603131 NA 9653160 Standard NM_004279 XM_005250717 NA Approved MPPB, MPPP52 uc003vbl.3 O75439 OTTHUMG00000157205 ENST00000249269.4:c.745C>T chr7.hg19:g.102948051C>T ENSP00000249269:p.His249Tyr NA O60416|Q96FV4 hg19 CCDS5730.1 0.02 1.348325 TCCxATG COVERED . . . . . . . . . . C 28.4 4.913810 0.92178 . . ENSG00000105819 ENST00000249269;ENST00000428154;ENST00000420236 T;T;T 0.10099 2.91;2.91;2.91 5.92 5.92 0.95590 Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1); 0.000000 0.85682 D 0.000000 T 0.51483 0.1677 H 0.96889 3.9 0.80722 D 1 D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D 0.97110 1.0;0.995;0.998;0.998;0.997;0.997;0.999 T 0.67221 -0.5725 10 0.87932 D 0 . 20.3206 0.98668 0.0:1.0:0.0:0.0 . 144;144;249;249;240;249;249 E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4 .;.;.;.;.;MPPB_HUMAN;. Y 249;249;144 ENSP00000249269:H249Y;ENSP00000390035:H249Y;ENSP00000410393:H144Y ENSP00000249269:H249Y H + 1 0 PMPCB 102735287 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.355000 0.79434 2.809000 0.96659 0.655000 0.94253 CAT NOVEL PMPCB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347913.1 2 13.844482 KEEP 0 0 0 46 1593 CC 1 0.990964 0 + 10 60 293 0 0 22.25756 51 60 1690 142 ENST00000249269.4 0.163934 0.990964 DNAJC2 27000 __UNKNOWN__ __UNKNOWN__ 7 102976405 102976405 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:102976405G>A ENST00000379263.3 - 3 582 DNAJC2_ENST00000412522.1_3'UTR|DNAJC2_ENST00000249270.7_Intron NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 NA NA 'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130) endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 acctgaggtcgggagttcgag 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X98260 CCDS43628.1, CCDS47679.1 7q22-q32 2011-09-02 2008-07-01 2008-07-01 ENSG00000105821 ENSG00000105821 27000 Heat shock proteins / DNAJ (HSP40) 13192 protein-coding gene gene with protein product 605502 zuotin related factor 1 ZRF1 NA 8885239 Standard NM_001129887 NA Approved MPP11, MPHOSPH11, ZUO1, zuotin uc003vbo.3 Q99543 OTTHUMG00000157202 ENST00000379263.3:c.331+1777C>T chr7.hg19:g.102976405G>A NA A4VCI0|Q9BVX1 hg19 CCDS43628.1 0.02 1.453664 GTCxGGA COVERED NOVEL DNAJC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347891.1 8 9.629954 KEEP 1 0 0 32 1073 GG 0.999997 0.963771 0 - 4 60 120 0 0 8.011466 42 60 1333 94 ENST00000379263.3 0.086957 0.963774 SLC26A5 375611 __UNKNOWN__ __UNKNOWN__ 7 103033270 103033270 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:103033270T>C ENST00000306312.3 - 10 1381 SLC26A5_ENST00000432958.2_Intron|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393723.1_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Intron|SLC26A5_ENST00000393727.1_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393730.1_Intron NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 NA NA regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328) secondary active sulfate transmembrane transporter activity (GO:0008271) endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 atgatccgcctgccttggcct 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AC005064 CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1 7q22 2013-07-18 2013-07-18 2005-09-13 ENSG00000170615 ENSG00000170615 375611 Solute carriers 9359 protein-coding gene gene with protein product deafness, neurosensory, autosomal recessive, 61 604943 prestin (motor protein) PRES NA 10821263 Standard NM_198999 NM_206883 NA Approved DFNB61 uc003vbz.3 P58743 OTTHUMG00000149911 ENST00000306312.3:c.1119+95A>G chr7.hg19:g.103033270T>C NA Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0 hg19 CCDS5733.1 0.02 1.797923 GCCxGCC COVERED NOVEL SLC26A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313860.1 10 6.91864 KEEP 4 0 0 23 687 TT 0.999892 0.979421 0 - 4 60 123 0 0 8.125038 47 60 1356 102 ENST00000306312.3 0.078431 0.979526 SLC26A5 375611 __UNKNOWN__ __UNKNOWN__ 7 103033284 103033284 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:103033284G>A ENST00000306312.3 - 10 1381 SLC26A5_ENST00000432958.2_Intron|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393723.1_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Intron|SLC26A5_ENST00000393727.1_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393730.1_Intron NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 NA NA regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328) secondary active sulfate transmembrane transporter activity (GO:0008271) endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 ttggcctcccgaagtgctggg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AC005064 CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1 7q22 2013-07-18 2013-07-18 2005-09-13 ENSG00000170615 ENSG00000170615 375611 Solute carriers 9359 protein-coding gene gene with protein product deafness, neurosensory, autosomal recessive, 61 604943 prestin (motor protein) PRES NA 10821263 Standard NM_198999 NM_206883 NA Approved DFNB61 uc003vbz.3 P58743 OTTHUMG00000149911 ENST00000306312.3:c.1119+81C>T chr7.hg19:g.103033284G>A NA Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0 hg19 CCDS5733.1 0.02 1.502607 CCCxAAG COVERED NOVEL SLC26A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313860.1 14 4.944164 KEEP 4 1 33 28 897 GG 0.999997 0.995081 0 - 8 60 230 0 0 16.530688 53 60 1648 129 ENST00000306312.3 0.131148 0.995084 RELN 5649 __UNKNOWN__ __UNKNOWN__ 7 103338242 103338242 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:103338242C>A ENST00000428762.1 - 10 1303 RELN_ENST00000424685.2_Intron|RELN_ENST00000343529.5_Intron NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin NA NA associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517) cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TATTGAGCTTCACTTTTAGAA 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(146;835 1944 15585 22231 52158) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34722.1, CCDS47680.1 7q22 2008-07-18 ENSG00000189056 ENSG00000189056 5649 9957 protein-coding gene gene with protein product 600514 NA 9049633 Standard NM_005045 NM_005045 NA Approved RL, PRO1598 uc010liz.3 P78509 OTTHUMG00000157247 ENST00000428762.1:c.1143+57G>T chr7.hg19:g.103338242C>A NA A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2 hg19 CCDS47680.1 0.02 -0.201708 CTTxACT COVERED NOVEL RELN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348148.1 0 2.708539 KEEP 0 0 0 9 303 CC 0.99254 0.486885 0 - 8 60 223 0 0 19.662185 15 60 451 34 ENST00000428762.1 0.347826 0.490544 SRPK2 6733 __UNKNOWN__ __UNKNOWN__ 7 104800980 104800980 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:104800980G>A ENST00000393651.3 - 7 682 c.595C>T c.(595-597)Cgt>Tgt p.R199C SRPK2_ENST00000357311.3_Missense_Mutation_p.R188C|SRPK2_ENST00000489828.1_Missense_Mutation_p.R188C NM_182692.1 NP_872634.1 SRSF protein kinase 2 NA NA NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 TTCACACAACGTACTGGGAGG 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 212 175 188 NA NA NA 7 NA NA 104800980 2203 4300 6503 SO:0001583 missense U88666 CCDS5735.1, CCDS34724.1 7q22-q31.1 2010-06-23 2010-06-23 ENSG00000135250 ENSG00000135250 6733 11306 protein-coding gene gene with protein product SR protein kinase 2, serine/arginine-rich splicing factor kinase 2 602980 SFRS protein kinase 2 NA 8208298, 9472028 Standard NM_182691 NM_182692 NA Approved SFRSK2 uc003vcv.4 P78362 OTTHUMG00000157405 ENST00000393651.3:c.595C>T chr7.hg19:g.104800980G>A ENSP00000377262:p.Arg199Cys NA hg19 CCDS34724.1 0.02 -0.289434 AACxTAC COVERED . . . . . . . . . . G 34 5.367388 0.95900 . . ENSG00000135250 ENST00000393651;ENST00000357311;ENST00000489828 T;T;T 0.22743 1.94;1.94;1.94 5.81 5.81 0.92471 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.351157 0.30742 N 0.008966 T 0.36908 0.0984 M 0.76328 2.33 0.80722 D 1 D;D 0.56521 0.97;0.976 B;P 0.48368 0.439;0.575 T 0.08554 -1.0716 10 0.41790 T 0.15 -12.3008 20.0833 0.97789 0.0:0.0:1.0:0.0 . 199;188 P78362-2;P78362 .;SRPK2_HUMAN C 199;188;188 ENSP00000377262:R199C;ENSP00000349863:R188C;ENSP00000419791:R188C ENSP00000349863:R188C R - 1 0 SRPK2 104588216 1.000000 0.71417 0.950000 0.38849 0.997000 0.91878 7.908000 0.87438 2.756000 0.94617 0.655000 0.94253 CGT NOVEL SRPK2-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348723.1 1 7.523691 KEEP 0 0 0 25 846 GG 0.999931 0.760834 0 - 10 60 299 0 0 25.880347 23 60 736 81 ENST00000393651.3 0.30303 0.760887 SRPK2 6733 __UNKNOWN__ __UNKNOWN__ 7 105025610 105025610 __UNKNOWN__ Intron SNP C C T rs559136591 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:105025610C>T ENST00000393651.3 - 2 159 NM_182692.1 NP_872634.1 SRSF protein kinase 2 NA NA NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 tgagccaccgcgcccggcAtt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U88666 CCDS5735.1, CCDS34724.1 7q22-q31.1 2010-06-23 2010-06-23 ENSG00000135250 ENSG00000135250 6733 11306 protein-coding gene gene with protein product SR protein kinase 2, serine/arginine-rich splicing factor kinase 2 602980 SFRS protein kinase 2 NA 8208298, 9472028 Standard NM_182691 NM_182692 NA Approved SFRSK2 uc003vcv.4 P78362 OTTHUMG00000157405 ENST00000393651.3:c.71+3484G>A chr7.hg19:g.105025610C>T NA hg19 CCDS34724.1 0.02 -0.209792 CCGxGCC UNCOVERED NOVEL SRPK2-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348723.1 17 2.407534 KEEP 12 0 0 8 268 CC 0 0 0 - 3 25 82 1 0 6.381498 12 60 380 48 ENST00000393651.3 0.2 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 105038055 105038055 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:105038055A>G NA NA SRPK2 (8714 upstream) : PUS7 (58902 downstream) NA NA NA gattacaggcatgagccacca 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.105038055A>G NA hg19 0.02 -0.254306 GGCxTGA COVERED NOVEL 0 6 2.406502 KEEP 1 0 0 8 232 AA 0.99257 0.688515 0 3 60 98 0 0 7.249301 22 60 631 56 0.12 0.693668 PUS7 54517 __UNKNOWN__ __UNKNOWN__ 7 105149109 105149109 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:105149109T>C ENST00000356362.2 - 2 207 PUS7_ENST00000469408.1_Intron NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 (putative) NA NA pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982) breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 ggcagatcacttgaggtcagg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(138;2387 3051 17860) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK128629 CCDS34725.1 7q22.3 2014-02-14 2014-02-14 ENSG00000091127 ENSG00000091127 54517 26033 protein-coding gene gene with protein product pseudouridylate synthase 7 homolog (S. cerevisiae) NA 11572484 Standard NM_019042 NM_019042 NA Approved FLJ20485 uc003vcx.3 Q96PZ0 OTTHUMG00000157399 ENST00000356362.2:c.8-142A>G chr7.hg19:g.105149109T>C NA Q75MG4|Q9NX19 hg19 CCDS34725.1 0.02 -0.377106 CACxTGA COVERED NOVEL PUS7-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348681.1 2 8.962456 KEEP 0 1 35 42 1360 TT 1 0.909069 0 - 3 60 97 1 0 6.47389 38 60 1124 97 ENST00000356362.2 0.073171 0.909069 CDHR3 222256 __UNKNOWN__ __UNKNOWN__ 7 105674156 105674156 __UNKNOWN__ 3'UTR SNP T T C rs190132223 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:105674156T>C ENST00000317716.9 + 0 3751 CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000542731.1_3'UTR NM_152750.4 NP_689963.2 Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 NA NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 cactgcactctagcctgggtg 0.428 NA t||| 2 0.000399361 0.0015 0 5008 , , NA 19391 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126338 CCDS47684.1, CCDS75651.1 7q22.2 2011-07-01 ENSG00000128536 ENSG00000128536 222256 Cadherins / Cadherin-related 26308 protein-coding gene gene with protein product 615610 NA Standard NM_152750 NM_152750 NA Approved FLJ44366, FLJ23834, CDH28 uc003vdl.4 Q6ZTQ4 OTTHUMG00000157520 ENST00000317716.9:c.*1013T>C chr7.hg19:g.105674156T>C NA Q8TCI7 hg19 CCDS47684.1 0.02 3.815674 CTCxAGC COVERED NOVEL CDHR3-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000349025.2 20 10.866296 KEEP 2 1 34 48 1475 TT 1 0.999999 0 + 6 60 201 1 0 12.956566 100 60 2899 261 ENST00000317716.9 0.056604 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 106205617 106205617 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:106205617A>G NA NA CTB-111H14.1 (60332 upstream) : CTB-30L5.1 (5775 downstream) NA NA NA acaggcgtgaaccaccatacc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.106205617A>G NA hg19 0.02 -0.324504 TGAxCCA COVERED NOVEL 0 6 2.703509 KEEP 1 0 0 9 270 AA 0.99254 0.829482 0 3 60 103 0 0 7.286993 32 60 937 70 0.085714 0.835716 PIK3CG 5294 __UNKNOWN__ __UNKNOWN__ 7 106524689 106524689 __UNKNOWN__ Silent SNP C C T rs2230460 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:106524689C>T ENST00000359195.3 + 9 3160 c.2850C>T c.(2848-2850)gaC>gaT p.D950D PIK3CG_ENST00000496166.1_Silent_p.D950D|PIK3CG_ENST00000440650.2_Silent_p.D950D NM_001282427.1|NM_002649.2 NP_001269356.1|NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 950 PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}. NA adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098) 1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GACACAATGACAATATTATGA 0.333 NA C||| 594 0.11861 0.0144 0.0504 5008 , , NA 18934 0.1925 NA 0.1123 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 C 144,4262 101.6+/-140.2 1,142,2060 160 156 157 NA 2850 3.5 1 7 dbSNP_98 157 928,7672 205.8+/-248.1 47,834,3419 no coding-synonymous PIK3CG NM_002649.2 48,976,5479 TT,TC,CC NA 10.7907,3.2683,8.2423 950/1103 106524689 1072,11934 2203 4300 6503 SO:0001819 synonymous_variant CCDS5739.1 7q22 2012-07-13 2012-07-13 ENSG00000105851 ENSG00000105851 5294 2.7.1.153 8978 protein-coding gene gene with protein product 601232 phosphoinositide-3-kinase, catalytic, gamma polypeptide NA Standard XM_005250443 NA Approved uc003vdw.3 P48736 OTTHUMG00000157641 ENST00000359195.3:c.2850C>T chr7.hg19:g.106524689C>T NA A4D0Q6|Q8IV23|Q9BZC8 hg19 CCDS5739.1 0.02 2.589175 TGAxAAT COVERED NOVEL PIK3CG-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349294.1 3 22.408429 KEEP 0 1 33 86 3072 CC 1 0.999999 0 + 6 60 171 0 0 9.641941 114 60 3860 302 ENST00000359195.3 0.05 0.999999 COG5 10466 __UNKNOWN__ __UNKNOWN__ 7 106898908 106898908 __UNKNOWN__ Intron SNP T T C rs200066090|rs567563049 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:106898908T>C ENST00000297135.3 - 15 2193 COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron NM_006348.3 NP_006339.3 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 NA NA intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 cacacacacatacacacacac 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF058718 CCDS5742.1, CCDS5743.1, CCDS55152.1 7q31 2010-06-24 2001-12-07 2002-05-10 ENSG00000164597 ENSG00000164597 10466 Components of oligomeric golgi complex 14857 protein-coding gene gene with protein product 606821 golgi transport complex 1 (90 kDa subunit) GOLTC1 NA 9792665, 11980916 Standard NM_006348 NA Approved GTC90 uc003vec.2 Q9UP83 OTTHUMG00000023895 ENST00000297135.3:c.1669-80A>G chr7.hg19:g.106898908T>C NA A4D0R6|A4D0R7|O14555|O95008|Q6NUL5 hg19 CCDS5742.1 0.02 -0.38574 ACAxACA COVERED NOVEL COG5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000349394.1 3 4.508849 KEEP 0 0 0 15 412 TT 0.99649 0.914948 0 - 11 70 362 1 0 31.235581 29 70 765 60 ENST00000297135.3 0.275 0.918171 BCAP29 55973 __UNKNOWN__ __UNKNOWN__ 7 107255808 107255808 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:107255808A>G ENST00000445771.2 + 8 820 BCAP29_ENST00000494086.1_Intron|BCAP29_ENST00000379121.2_3'UTR|BCAP29_ENST00000465919.1_Intron|BCAP29_ENST00000379119.2_Intron|BCAP29_ENST00000379117.2_Intron|BCAP29_ENST00000005259.4_Intron Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 NA NA apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 agcactttggaaggctgaggc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34730.1, CCDS34731.1 7q22.3 2012-09-20 ENSG00000075790 ENSG00000075790 55973 24131 protein-coding gene gene with protein product NA 12477932 Standard NM_018844 NM_018844 NA Approved BAP29, DKFZp686M2086 uc011kma.1 Q9UHQ4 OTTHUMG00000154770 ENST00000445771.2:c.769+1631A>G chr7.hg19:g.107255808A>G NA G5E9L4|O95003 hg19 CCDS34730.1 0.02 5.393907 TGGxAGG COVERED NOVEL BCAP29-013 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337022.2 27 14.07356 KEEP 1 7 232 128 3812 AA 1 1 0 + 10 60 326 0 1 21.110892 151 60 4307 394 ENST00000445771.2 0.062112 1 DOCK4 9732 __UNKNOWN__ __UNKNOWN__ 7 111368695 111368695 __UNKNOWN__ Missense_Mutation SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:111368695T>G ENST00000437633.1 - 52 5792 c.5536A>C c.(5536-5538)Agc>Cgc p.S1846R DOCK4_ENST00000428084.1_Missense_Mutation_p.S1855R|DOCK4_ENST00000494651.2_Missense_Mutation_p.S729R NM_014705.3 NP_055520.3 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1846 Ser-rich. NA cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421) guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CTGCTGTAGCTGCCCGACAAG 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 46 45 NA NA NA 7 NA NA 111368695 2102 4220 6322 SO:0001583 missense CCDS47688.1 7q31.1 2007-08-07 ENSG00000128512 ENSG00000128512 9732 19192 protein-coding gene gene with protein product 607679 NA 12432077, 12628187 Standard NM_014705 XM_006716188 NA Approved FLJ34238, KIAA0716 uc003vfx.3 Q8N1I0 OTTHUMG00000155077 ENST00000437633.1:c.5536A>C chr7.hg19:g.111368695T>G ENSP00000404179:p.Ser1846Arg NA O14584|O94824|Q8NB45 hg19 CCDS47688.1 0.02 5.736804 AGCxGCC COVERED . . . . . . . . . . T 27.4 4.828220 0.90955 . . ENSG00000128512 ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288 T;T;T 0.28069 1.63;1.63;1.63 5.85 5.85 0.93711 . 0.000000 0.85682 D 0.000000 T 0.55257 0.1909 M 0.71581 2.175 0.80722 D 1 D;D;P;D;D;D 0.89917 0.998;0.999;0.92;0.999;0.994;1.0 D;D;P;D;D;D 0.85130 0.986;0.994;0.468;0.994;0.983;0.997 T 0.52631 -0.8550 10 0.36615 T 0.2 . 16.2386 0.82394 0.0:0.0:0.0:1.0 . 715;729;1891;1846;1817;159 B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4 .;.;.;DOCK4_HUMAN;.;. R 1834;1855;729;1846;1805 ENSP00000410746:S1855R;ENSP00000440944:S729R;ENSP00000404179:S1846R ENSP00000345432:S1805R S - 1 0 DOCK4 111155931 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.489000 0.81451 2.239000 0.73571 0.533000 0.62120 AGC NOVEL DOCK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338369.4 3 54.446587 KEEP 0 0 0 181 5656 TT 1 1 0 - 81 60 2697 0 0 250.867331 114 60 3429 522 ENST00000437633.1 0.415385 1 DOCK4 9732 __UNKNOWN__ __UNKNOWN__ 7 111380190 111380190 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:111380190T>C ENST00000437633.1 - 47 5270 DOCK4_ENST00000428084.1_Intron|DOCK4_ENST00000494651.2_Intron NM_014705.3 NP_055520.3 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 NA NA cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421) guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) cagtctcgctttgttgcccag 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47688.1 7q31.1 2007-08-07 ENSG00000128512 ENSG00000128512 9732 19192 protein-coding gene gene with protein product 607679 NA 12432077, 12628187 Standard NM_014705 XM_006716188 NA Approved FLJ34238, KIAA0716 uc003vfx.3 Q8N1I0 OTTHUMG00000155077 ENST00000437633.1:c.5014-657A>G chr7.hg19:g.111380190T>C NA O14584|O94824|Q8NB45 hg19 CCDS47688.1 0.02 1.705155 GCTxTGT COVERED . . . . . . . . . . T 0.964 -0.702198 0.03255 . . ENSG00000128512 ENST00000544250 . . . 0.128 -0.256 0.12984 . . . . . T 0.36138 0.0956 . . . 0.09310 N 1 . . . . . . T 0.37126 -0.9719 4 0.87932 D 0 . . . . . . . . E 1093 . ENSP00000441256:K1093E K - 1 0 DOCK4 111167426 0.012000 0.17670 0.033000 0.17914 0.030000 0.12068 -0.559000 0.05971 -0.814000 0.04352 -0.804000 0.03201 AAG NOVEL DOCK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338369.4 9 7.157897 KEEP 1 1 38 37 1193 TT 1 0.99911 0 - 4 60 139 1 1 9.079582 69 60 1990 167 ENST00000437633.1 0.054795 0.99911 DOCK4 9732 __UNKNOWN__ __UNKNOWN__ 7 111380259 111380259 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:111380259G>A ENST00000437633.1 - 47 5270 DOCK4_ENST00000428084.1_Intron|DOCK4_ENST00000494651.2_Intron NM_014705.3 NP_055520.3 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 NA NA cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421) guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) aggttcaagcgattctcctgc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47688.1 7q31.1 2007-08-07 ENSG00000128512 ENSG00000128512 9732 19192 protein-coding gene gene with protein product 607679 NA 12432077, 12628187 Standard NM_014705 XM_006716188 NA Approved FLJ34238, KIAA0716 uc003vfx.3 Q8N1I0 OTTHUMG00000155077 ENST00000437633.1:c.5014-726C>T chr7.hg19:g.111380259G>A NA O14584|O94824|Q8NB45 hg19 CCDS47688.1 0.02 -0.315666 AGCxATT COVERED . . . . . . . . . . G 9.167 1.020086 0.19433 . . ENSG00000128512 ENST00000544250 . . . 0.128 0.128 0.14733 . . . . . T 0.39733 0.1089 . . . 0.23293 N 0.997966 . . . . . . T 0.39860 -0.9593 4 0.87932 D 0 . . . . . . . . C 1070 . ENSP00000441256:R1070C R - 1 0 DOCK4 111167495 0.006000 0.16342 0.393000 0.26258 0.403000 0.30841 -1.210000 0.02999 0.283000 0.22279 0.289000 0.19496 CGC NOVEL DOCK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338369.4 1 5.116056 KEEP 0 0 0 17 562 GG 0.999366 0.817946 0 - 5 60 112 1 0 7.648637 26 60 799 56 ENST00000437633.1 0.16129 0.818465 DOCK4 9732 __UNKNOWN__ __UNKNOWN__ 7 111380280 111380280 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:111380280C>T ENST00000437633.1 - 47 5270 DOCK4_ENST00000428084.1_Intron|DOCK4_ENST00000494651.2_Intron NM_014705.3 NP_055520.3 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 NA NA cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421) guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ctcagcctcccgagtagctgg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47688.1 7q31.1 2007-08-07 ENSG00000128512 ENSG00000128512 9732 19192 protein-coding gene gene with protein product 607679 NA 12432077, 12628187 Standard NM_014705 XM_006716188 NA Approved FLJ34238, KIAA0716 uc003vfx.3 Q8N1I0 OTTHUMG00000155077 ENST00000437633.1:c.5014-747G>A chr7.hg19:g.111380280C>T NA O14584|O94824|Q8NB45 hg19 CCDS47688.1 0.02 -0.175413 TCCxGAG COVERED NOVEL DOCK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338369.4 2 3.911855 KEEP 0 0 0 13 412 CC 0.995343 0.385603 0 - 4 60 114 0 0 9.281206 13 60 393 35 ENST00000437633.1 0.235294 0.387407 DOCK4 9732 __UNKNOWN__ __UNKNOWN__ 7 111385504 111385504 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:111385504T>C ENST00000437633.1 - 43 4907 DOCK4_ENST00000428084.1_Intron|DOCK4_ENST00000494651.2_Intron NM_014705.3 NP_055520.3 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 NA NA cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421) guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) tttgggaggctgaggcgggtg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47688.1 7q31.1 2007-08-07 ENSG00000128512 ENSG00000128512 9732 19192 protein-coding gene gene with protein product 607679 NA 12432077, 12628187 Standard NM_014705 XM_006716188 NA Approved FLJ34238, KIAA0716 uc003vfx.3 Q8N1I0 OTTHUMG00000155077 ENST00000437633.1:c.4650+885A>G chr7.hg19:g.111385504T>C NA O14584|O94824|Q8NB45 hg19 CCDS47688.1 0.02 -0.175379 GGCxGAG UNCOVERED NOVEL DOCK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338369.4 3 2.407116 KEEP 1 0 0 8 245 TT 0 0 0 - 3 60 89 0 0 6.66379 17 60 502 40 ENST00000437633.1 0.15 0.387407 ZNF277 11179 __UNKNOWN__ __UNKNOWN__ 7 111927200 111927200 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:111927200T>C ENST00000361822.3 + 2 422 ZNF277_ENST00000421043.1_3'UTR|ZNF277_ENST00000450657.1_Intron NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 NA NA cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979) breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 gtaatcctagtactttgggag 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF209198 CCDS5755.2 7q31.1 2012-10-05 2007-10-23 2007-10-23 ENSG00000198839 ENSG00000198839 11179 13070 protein-coding gene gene with protein product 605465 zinc finger protein (C2H2 type) 277, zinc finger protein 277 pseudogene ZNF277P NA 10860669, 16213364, 16395595 Standard NM_021994 NM_021994 NA Approved NRIF4 uc003vge.2 Q9NRM2 OTTHUMG00000150209 ENST00000361822.3:c.293+71T>C chr7.hg19:g.111927200T>C NA Q75MZ2|Q75MZ3|Q8WY14 hg19 CCDS5755.2 0.02 5.839426 TAGxACT COVERED NOVEL ZNF277-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316843.2 29 9.217452 KEEP 0 4 115 71 2126 TT 1 1 0 + 6 60 213 0 0 13.177092 147 60 4078 336 ENST00000361822.3 0.039216 1 FOXP2 93986 __UNKNOWN__ __UNKNOWN__ 7 114269998 114269998 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:114269998C>G ENST00000393494.2 + 5 814 c.535C>G c.(535-537)Cag>Gag p.Q179E FOXP2_ENST00000393489.3_Missense_Mutation_p.Q87E|FOXP2_ENST00000360232.4_Missense_Mutation_p.Q179E|FOXP2_ENST00000378237.3_Missense_Mutation_p.Q179E|FOXP2_ENST00000403559.4_Missense_Mutation_p.Q196E|FOXP2_ENST00000393498.2_Missense_Mutation_p.Q159E|FOXP2_ENST00000393500.3_Missense_Mutation_p.Q104E|FOXP2_ENST00000350908.4_Missense_Mutation_p.Q179E|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Missense_Mutation_p.Q87E|FOXP2_ENST00000408937.3_Missense_Mutation_p.Q204E|FOXP2_ENST00000390668.3_Missense_Mutation_p.Q203E O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. NA camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.Q204K(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 gcagcaacaacagcagcagca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) lung(1) 41 39 39 NA NA NA 7 NA NA 114269998 2201 4282 6483 SO:0001583 missense U80741 CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1 7q31 2008-07-18 ENSG00000128573 ENSG00000128573 93986 Forkhead boxes 13875 protein-coding gene gene with protein product trinucleotide repeat containing 10, forkhead/winged-helix transcription factor, speech and language disorder 1, CAG repeat protein 44 605317 TNRC10, SPCH1 NA 11586359, 9225980 Standard NM_014491 NM_014491 NA Approved CAGH44 uc003vgz.3 O15409 OTTHUMG00000023131 ENST00000393494.2:c.535C>G chr7.hg19:g.114269998C>G ENSP00000377132:p.Gln179Glu NA A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74 hg19 CCDS5760.1 0.02 3.719173 CAAxAGC COVERED . . . . . . . . . . C 13.32 2.201128 0.38905 . . ENSG00000128573 ENST00000393500;ENST00000324462;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000452963;ENST00000390668;ENST00000393491 T;T;T;T;T;T;T;T;T;T 0.36520 1.57;1.56;1.56;1.57;1.56;1.56;1.25;1.56;1.56;1.25 6.03 6.03 0.97812 . 0.491185 0.20204 N 0.097040 T 0.27169 0.0666 N 0.19112 0.55 0.58432 D 0.999991 B;B;B;B;B;B;B 0.33919 0.116;0.116;0.432;0.314;0.314;0.116;0.184 B;B;B;B;B;B;B 0.26310 0.031;0.031;0.031;0.068;0.068;0.031;0.068 T 0.04307 -1.0961 10 0.37606 T 0.19 . 20.17 0.98157 0.0:1.0:0.0:0.0 . 179;196;87;179;203;179;204 B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4 .;.;.;.;.;FOXP2_HUMAN;. E 104;179;179;204;196;179;157;179;87;179;185;203;87 ENSP00000377137:Q104E;ENSP00000377132:Q179E;ENSP00000386200:Q204E;ENSP00000385069:Q196E;ENSP00000265436:Q179E;ENSP00000367482:Q179E;ENSP00000377129:Q87E;ENSP00000353367:Q179E;ENSP00000375084:Q203E;ENSP00000377130:Q87E ENSP00000319424:Q179E Q + 1 0 FOXP2 114057234 0.974000 0.33945 0.999000 0.59377 0.960000 0.62799 1.346000 0.33964 2.868000 0.98415 0.555000 0.69702 CAG NOVEL FOXP2-014 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317366.1 7 23.766846 KEEP 1 0 0 79 2727 CC 1 1 0 + 6 60 205 1 0 13.068534 112 60 3720 301 ENST00000393494.2 0.050847 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 115339234 115339234 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:115339234T>C NA NA RP11-458K10.2 (16562 upstream) : RP11-458K10.3 (90548 downstream) NA NA NA tggtggctcatgcctgtaatc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.115339234T>C NA hg19 0.02 -0.201724 TCAxGCC COVERED NOVEL 0 8 2.407138 KEEP 4 0 0 8 244 TT 0.99257 0.4869 0 3 60 94 0 0 7.23372 16 60 475 53 0.157895 0.490544 TFEC 22797 __UNKNOWN__ __UNKNOWN__ 7 115608241 115608241 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:115608241G>A ENST00000320239.7 - 3 433 TFEC_ENST00000484212.1_Intron|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000457268.1_Silent_p.L22L|TFEC_ENST00000265440.7_Intron NM_001018058.2 NP_001018068.1 O14948 TFEC_HUMAN transcription factor EC NA NA cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TTGCTCACCAGTTTTAACTTT 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D43945 CCDS5762.1, CCDS34738.1, CCDS59076.1 7q31.2 2013-05-21 ENSG00000105967 ENSG00000105967 22797 Basic helix-loop-helix proteins 11754 protein-coding gene gene with protein product 604732 NA 9256061 Standard NM_012252 NM_012252 NA Approved TCFEC, TFECL, bHLHe34 uc003vhj.2 O14948 OTTHUMG00000023518 ENST00000320239.7:c.181-11394C>T chr7.hg19:g.115608241G>A NA B2R8X5|Q5H9U8|Q709A4|Q8N6J9 hg19 CCDS34738.1 0.02 -0.324563 CCAxTTT COVERED NOVEL TFEC-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316593.1 2 5.718159 KEEP 0 0 0 19 681 GG 0.99986 0.835599 0 - 12 60 356 0 0 31.199495 25 60 867 80 ENST00000320239.7 0.324324 0.835716 TES 26136 __UNKNOWN__ __UNKNOWN__ 7 115898292 115898292 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:115898292T>G ENST00000358204.4 + 0 2237 AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_3'UTR NM_015641.3 NP_056456.1 Q9UGI8 TES_HUMAN testis derived transcript (3 LIM domains) NA NA negative regulation of cell proliferation (GO:0008285) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) gcctcccaaatagctgggatt 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ250865 CCDS5763.1, CCDS5764.1 7q31.2 2004-04-20 ENSG00000135269 ENSG00000135269 26136 14620 protein-coding gene gene with protein product 606085 NA 10950921 Standard NM_015641 NM_015641 NA Approved DKFZP586B2022, TESS-2, TESTIN uc003vho.3 Q9UGI8 OTTHUMG00000023092 ENST00000358204.4:c.*756T>G chr7.hg19:g.115898292T>G NA A4D0U6|Q9GZQ1|Q9HAJ9 hg19 CCDS5763.1 0.02 -0.385799 AAAxAGC COVERED NOVEL TES-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059413.2 6 7.817683 KEEP 0 0 0 26 759 TT 0.999957 0.918131 0 + 3 60 98 0 0 6.749673 33 60 901 80 ENST00000358204.4 0.083333 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 119858079 119858079 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:119858079T>G NA NA RP5-1006K12.1 (31961 upstream) : KCND2 (55642 downstream) NA NA NA ccagcacttttggaggctgag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.119858079T>G NA hg19 0.02 -0.131566 TTTxGGA COVERED NOVEL 0 6 2.407195 KEEP 1 0 0 8 248 TT 0.99257 0.259026 0 4 60 140 0 0 12.131324 11 60 324 39 0.266667 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 120590731 120590731 __UNKNOWN__ IGR SNP T T C rs537262141 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:120590731T>C NA NA TSPAN12 (92320 upstream) : ING3 (71 downstream) NA NA NA CCGGCCGGGCTACGTCATTGC 0.552 NA T||| 1 0.000199681 8e-04 0 5008 , , NA 13260 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.120590731T>C NA hg19 0.02 -0.166604 GGCxACG COVERED NOVEL 0 3 5.715727 KEEP 0 0 0 19 552 TT 0.99986 0.353897 0 8 60 248 0 0 22.998443 11 60 311 41 0.421053 0.353947 ING3 54556 __UNKNOWN__ __UNKNOWN__ 7 120597154 120597154 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:120597154A>G ENST00000315870.5 + 4 415 ING3_ENST00000431467.1_Intron NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 NA NA chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812) methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) ggccgggcgcagtggctcacg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF074968 CCDS5778.1, CCDS35497.1 7q31 2013-01-28 ENSG00000071243 ENSG00000071243 54556 Zinc fingers, PHD-type 14587 protein-coding gene gene with protein product 607493 NA 12080476 Standard NM_019071 NM_019071 NA Approved p47ING3, FLJ20089, Eaf4, MEAF4 uc003vjn.3 Q9NXR8 OTTHUMG00000141270 ENST00000315870.5:c.267+1476A>G chr7.hg19:g.120597154A>G NA A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081 hg19 CCDS5778.1 0.02 -0.403439 CGCxGTG COVERED NOVEL ING3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280453.2 5 3.009312 KEEP 2 0 0 10 322 AA 0.992708 0.934874 0 + 3 60 95 0 0 6.341627 36 60 1074 82 ENST00000315870.5 0.076923 0.941741 PTPRZ1 5803 __UNKNOWN__ __UNKNOWN__ 7 121513369 121513369 __UNKNOWN__ 5'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:121513369G>C ENST00000393386.2 + 0 227 NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 NA NA axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445) integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578) protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ctctgtctctgtctctctctc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M93426 CCDS34740.1, CCDS56505.1 7q31.3 2013-02-11 ENSG00000106278 ENSG00000106278 5803 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9685 protein-coding gene gene with protein product 176891 PTPZ, PTPRZ NA 7736789, 8387522 Standard NM_002851 NM_001206838 NA Approved PTP18, RPTPB, phosphacan uc003vjy.3 P23471 OTTHUMG00000157057 ENST00000393386.2:c.-185G>C chr7.hg19:g.121513369G>C NA A4D0W5|C9JFM0|O76043|Q9UDR6 hg19 CCDS34740.1 0.02 3.900547 TCTxTCT COVERED NOVEL PTPRZ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347288.1 11 3.532044 KEEP 1 4 69 37 1205 GG 1 0.999999 0 + 6 60 208 0 1 13.512989 106 70 3382 214 ENST00000393386.2 0.053571 0.999999 WASL 8976 __UNKNOWN__ __UNKNOWN__ 7 123340000 123340000 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:123340000A>G ENST00000223023.4 - 6 793 NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like NA NA actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050) actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886) small GTPase regulator activity (GO:0005083) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ggaggccgagacgggcggatc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D88460 CCDS34743.1 7q31.3 2008-02-01 ENSG00000106299 ENSG00000106299 8976 12735 protein-coding gene gene with protein product 605056 NA 9422512, 9322739 Standard NM_003941 NM_003941 NA Approved N-WASP, NWASP uc003vkz.3 O00401 OTTHUMG00000157346 ENST00000223023.4:c.461-3199T>C chr7.hg19:g.123340000A>G NA A1JUI9|Q7Z746 hg19 CCDS34743.1 0.02 -0.227936 GAGxCGG COVERED NOVEL WASL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348522.1 5 2.707908 KEEP 5 0 0 9 274 AA 0.99254 0.578582 0 - 3 60 103 0 0 7.695093 23 60 655 56 ENST00000223023.4 0.115385 0.58293 WASL 8976 __UNKNOWN__ __UNKNOWN__ 7 123340758 123340758 __UNKNOWN__ Intron SNP T T C rs551720517 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:123340758T>C ENST00000223023.4 - 5 793 NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like NA NA actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050) actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886) small GTPase regulator activity (GO:0005083) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 tcccaaagtgttgggattaca 0.453 NA T||| 1 0.000199681 8e-04 0 5008 , , NA 18010 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D88460 CCDS34743.1 7q31.3 2008-02-01 ENSG00000106299 ENSG00000106299 8976 12735 protein-coding gene gene with protein product 605056 NA 9422512, 9322739 Standard NM_003941 NM_003941 NA Approved N-WASP, NWASP uc003vkz.3 O00401 OTTHUMG00000157346 ENST00000223023.4:c.460+3929A>G chr7.hg19:g.123340758T>C NA A1JUI9|Q7Z746 hg19 CCDS34743.1 0.02 -0.219246 GTGxTGG COVERED NOVEL WASL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348522.1 2 3.009047 KEEP 0 0 0 10 313 TT 0.992708 0.548856 0 - 3 60 106 0 0 8.226867 19 60 551 52 ENST00000223023.4 0.136364 0.552887 RP5-921G16.1 0 __UNKNOWN__ __UNKNOWN__ 7 123763573 123763573 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:123763573T>C ENST00000484322.1 + 0 168 NA NA NA gtctgtaatctcagcactttg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000484322.1: chr7.hg19:g.123763573T>C NA hg19 0.02 -0.052631 ATCxCAG UNCOVERED NOVEL RP5-921G16.1-001 KNOWN basic antisense NA antisense OTTHUMT00000348433.1 4 2.407652 KEEP 0 0 0 8 265 TT 0.99257 0.036492 0 + 2 60 70 0 0 6.4929 3 60 95 18 ENST00000484322.1 0.4 0.036766 POT1 25913 __UNKNOWN__ __UNKNOWN__ 7 124463280 124463280 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:124463280C>T ENST00000357628.3 - 0 3239 POT1_ENST00000393329.1_3'UTR NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 NA NA DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 CATTTTTCAGCTCAACTTAGG 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022580 CCDS5793.1 7q31.33 2013-01-21 2013-01-21 ENSG00000128513 ENSG00000128513 25913 17284 protein-coding gene gene with protein product 606478 protection of telomeres 1 homolog (S. pombe) NA 11349150, 12391173 Standard NR_003102 NA Approved hPot1, DKFZp586D211 uc003vlm.3 Q9NUX5 OTTHUMG00000157194 ENST00000357628.3:c.*736G>A chr7.hg19:g.124463280C>T NA O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95 hg19 CCDS5793.1 0.02 -0.41225 CAGxTCA COVERED NOVEL POT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347861.1 3 6.319883 KEEP 0 0 0 21 738 CC 0.999869 0.941618 0 - 18 60 529 0 0 48.112681 28 60 950 96 ENST00000357628.3 0.391304 0.941741 POT1 25913 __UNKNOWN__ __UNKNOWN__ 7 124488750 124488750 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:124488750G>A ENST00000357628.3 - 12 1548 POT1_ENST00000393329.1_Intron NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 NA NA DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 gagatatgtagaaataaatac 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022580 CCDS5793.1 7q31.33 2013-01-21 2013-01-21 ENSG00000128513 ENSG00000128513 25913 17284 protein-coding gene gene with protein product 606478 protection of telomeres 1 homolog (S. pombe) NA 11349150, 12391173 Standard NR_003102 NA Approved hPot1, DKFZp586D211 uc003vlm.3 Q9NUX5 OTTHUMG00000157194 ENST00000357628.3:c.950-1698C>T chr7.hg19:g.124488750G>A NA O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95 hg19 CCDS5793.1 0.02 0.879646 GTAxAAA COVERED NOVEL POT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347861.1 43 13.218648 KEEP 0 0 0 44 1504 GG 1 0.999895 0 - 5 60 139 0 0 7.967031 83 60 2656 217 ENST00000357628.3 0.056818 0.999895 RP11-3B12.2 0 __UNKNOWN__ __UNKNOWN__ 7 124862113 124862113 __UNKNOWN__ lincRNA SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:124862113T>G ENST00000424515.2 + 0 648 NA NA NA tcttagtacataacaaaatgg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424515.2: chr7.hg19:g.124862113T>G NA hg19 0.02 -0.184099 ACAxAAC COVERED NOVEL RP11-3B12.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000347734.2 1 2.706515 KEEP 12 0 0 9 256 TT 0.99257 0.420331 0 + 3 60 97 0 0 7.393016 18 60 473 57 ENST00000424515.2 0.142857 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 125588542 125588542 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:125588542A>C NA NA AC005276.1 (14656 upstream) : AC003968.1 (91740 downstream) NA NA NA agaaagaaagaaagaaagaaa 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.125588542A>C NA hg19 0.02 -0.429696 AAGxAAG COVERED NOVEL 0 7 3.009093 KEEP 3 0 0 10 317 AA 0.99254 0.947371 0 3 39 105 0 0 7.177129 41 70 1168 73 0.068182 0.954491 FSCN3 29999 __UNKNOWN__ __UNKNOWN__ 7 127236037 127236037 __UNKNOWN__ Missense_Mutation SNP G G A rs569716722 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:127236037G>A ENST00000265825.5 + 2 1040 c.821G>A c.(820-822)cGg>cAg p.R274Q FSCN3_ENST00000420086.2_Missense_Mutation_p.R140Q NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin actin-bundling protein 3, testicular 274 NA actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 AAGACTGGGCGGTTCATCTCA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 48 49 NA NA NA 7 NA NA 127236037 2203 4300 6503 SO:0001583 missense CCDS34746.1 7q31.3 2014-02-03 2014-02-03 ENSG00000106328 ENSG00000106328 29999 Fascins 3961 protein-coding gene gene with protein product 615800 fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular), fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) NA 11925108 Standard NM_020369 NM_020369 NA Approved uc003vmd.2 Q9NQT6 OTTHUMG00000022935 ENST00000265825.5:c.821G>A chr7.hg19:g.127236037G>A ENSP00000265825:p.Arg274Gln NA A4D0Z2|A6NLL7|B2RA62|B4DU68 hg19 CCDS34746.1 0.02 1.251892 GGCxGTT COVERED . . . . . . . . . . G 13.52 2.260613 0.39995 . . ENSG00000106328 ENST00000265825;ENST00000420086 T;T 0.56444 1.18;0.46 5.24 0.739 0.18324 Fascin domain (1);Actin cross-linking (1); 0.367116 0.26496 N 0.024050 T 0.39655 0.1086 L 0.47716 1.5 0.31952 N 0.609505 P;P 0.49783 0.928;0.753 B;B 0.40602 0.334;0.207 T 0.50996 -0.8761 10 0.62326 D 0.03 -17.593 6.7307 0.23381 0.6173:0.0:0.3827:0.0 . 140;274 B4DU68;Q9NQT6 .;FSCN3_HUMAN Q 274;140 ENSP00000265825:R274Q;ENSP00000412243:R140Q ENSP00000265825:R274Q R + 2 0 FSCN3 127023273 1.000000 0.71417 0.877000 0.34402 0.373000 0.29922 0.940000 0.28992 0.179000 0.19938 0.650000 0.86243 CGG NOVEL FSCN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059256.2 2 13.497544 KEEP 0 0 0 45 1527 GG 1 0.997898 0 + 7 60 199 0 0 13.23547 66 60 2149 156 ENST00000265825.5 0.09589 0.997898 LEP 3952 __UNKNOWN__ __UNKNOWN__ 7 127897349 127897349 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:127897349T>C ENST00000308868.4 + 0 3088 NM_000230.2 NP_000221.1 P41159 LEP_HUMAN leptin NA NA adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615) endometrium(1)|large_intestine(2)|lung(5) 8 TTTggccgggtgcggtggctc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5800.1 7q31 2008-03-06 2008-03-06 ENSG00000174697 ENSG00000174697 3952 6553 protein-coding gene gene with protein product 164160 leptin (murine obesity homolog), leptin (obesity homolog, mouse) OBS, OB NA 1686014, 16932309 Standard NM_000230 NA Approved uc003vml.2 P41159 OTTHUMG00000157564 ENST00000308868.4:c.*2533T>C chr7.hg19:g.127897349T>C NA O15158|Q56A88 hg19 CCDS5800.1 0.02 -0.324413 GGGxGCG COVERED NOVEL LEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349174.1 7 2.943478 KEEP 2 0 0 10 277 TT 0.992708 0.845771 0 + 3 60 95 0 0 6.610531 29 60 845 86 ENST00000308868.4 0.09375 0.851984 METTL2B 55798 __UNKNOWN__ __UNKNOWN__ 7 128143088 128143088 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:128143088T>C ENST00000480046.1 + 0 2175 Q6P1Q9 MET2B_HUMAN methyltransferase like 2B NA NA tRNA methylation (GO:0030488) tRNA (cytosine) methyltransferase activity (GO:0016427) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 tttgggaggctgaggcaggtg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002212 CCDS5803.2 7q32.2 2012-06-12 2006-02-09 2006-02-09 ENSG00000165055 ENSG00000165055 55798 18272 protein-coding gene gene with protein product 607846 methyltransferase like 2 METTL2 NA 11738826 Standard NM_018396 NM_018396 NA Approved METL, FLJ11350 uc003vnf.3 Q6P1Q9 OTTHUMG00000143738 ENST00000480046.1:c.*1118T>C chr7.hg19:g.128143088T>C NA B4DZ68|Q0IJ54|Q3B7J1 hg19 0.02 3.376549 GGCxGAG COVERED NOVEL METTL2B-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000289818.2 18 24.135142 KEEP 1 2 33 92 2892 TT 1 1 0 + 7 60 218 0 0 13.436626 118 60 3552 288 ENST00000480046.1 0.056 1 RP11-274B21.1 0 __UNKNOWN__ __UNKNOWN__ 7 128219132 128219132 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:128219132T>C ENST00000605862.1 + 0 305 NA NA NA tggcttatgcttgtaatccca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000605862.1: chr7.hg19:g.128219132T>C NA hg19 0.02 -0.192963 TGCxTGT COVERED NOVEL RP11-274B21.1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000468355.1 2 3.610463 KEEP 1 0 0 12 373 TT 0.993072 0.454585 0 + 3 60 99 0 0 7.810169 15 60 450 43 ENST00000605862.1 0.166667 0.457757 RP11-274B21.1 0 __UNKNOWN__ __UNKNOWN__ 7 128247287 128247287 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:128247287C>T ENST00000605862.1 + 0 569 NA NA NA TTAggctaggcgtggtggctc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000605862.1: chr7.hg19:g.128247287C>T NA hg19 0.02 -0.210529 AGGxGTG UNCOVERED NOVEL RP11-274B21.1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000468355.1 8 2.407857 KEEP 5 0 0 8 281 CC 0 0 0 + 8 49 240 0 0 21.553029 14 60 482 52 ENST00000605862.1 0.363636 0.522161 FAM71F2 346653 __UNKNOWN__ __UNKNOWN__ 7 128322899 128322899 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:128322899A>G ENST00000480462.1 + 5 840 FAM71F2_ENST00000378704.3_Intron|FAM71F2_ENST00000477515.1_Intron Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 NA NA NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 ccaaagtgctaggattacagg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047310 CCDS47701.1, CCDS47702.1 7q32.1 2009-04-17 2007-11-20 2007-11-20 ENSG00000205085 ENSG00000205085 346653 27998 protein-coding gene gene with protein product family with sequence similarity 137, member B FAM137B NA 12477932 Standard XM_006715964 NA Approved uc003vnk.4 Q6NXP2 OTTHUMG00000158275 ENST00000480462.1:c.735-119A>G chr7.hg19:g.128322899A>G NA Q0VGF6|Q0VGF7|Q86X39 hg19 CCDS47701.1 0.02 -0.254305 GCTxGGA COVERED NOVEL FAM71F2-001 KNOWN non_canonical_conserved|basic|CCDS protein_coding NA protein_coding OTTHUMT00000350537.1 3 3.611134 KEEP 2 0 0 12 381 AA 0.993072 0.663892 0 + 3 60 103 0 0 7.749065 22 60 620 50 ENST00000480462.1 0.12 0.668523 TNPO3 23534 __UNKNOWN__ __UNKNOWN__ 7 128618964 128618964 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:128618964A>G ENST00000482320.1 - 17 2545 TNPO3_ENST00000265388.5_Intron|TNPO3_ENST00000471166.1_Intron|TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000393245.1_Intron Q9Y5L0 TNPO3_HUMAN transportin 3 NA NA splicing factor protein import into nucleus (GO:0035048) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) receptor activity (GO:0004872) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 gggattacagacgtgagccac 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(147;583 2585 39696 52331) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145029 CCDS5809.1, CCDS55162.1 7q32.2 2014-02-03 ENSG00000064419 ENSG00000064419 23534 Importins 17103 protein-coding gene gene with protein product importin 12 610032 limb girdle muscular dystrophy 1F (autosomal dominant) LGMD1F NA 10366588, 10713112, 23543484, 23667635 Standard NM_012470 NM_012470 NA Approved TRN-SR, MTR10A, TRN-SR2, IPO12 uc003vol.2 Q9Y5L0 OTTHUMG00000158409 ENST00000482320.1:c.1863+72T>C chr7.hg19:g.128618964A>G NA A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2 hg19 0.02 3.974223 CAGxCGT COVERED NOVEL TNPO3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350930.2 5 6.791818 KEEP 0 2 73 48 1529 AA 1 0.999978 0 - 7 60 241 0 0 16.836414 81 60 2367 203 ENST00000482320.1 0.079545 0.999978 SMKR1 100287482 __UNKNOWN__ __UNKNOWN__ 7 129148898 129148898 __UNKNOWN__ Intron SNP A A G rs1248457 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:129148898A>G ENST00000462322.2 + 2 349 NM_001195243.1 NP_001182172.1 H3BMG3 SMKR1_HUMAN small lysine-rich protein 1 NA NA NA gctcacgcctataatcccagc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035417, BC050400 CCDS59077.1 7q32.1 2012-12-11 2012-12-11 ENSG00000240204 ENSG00000240204 100287482 43561 protein-coding gene gene with protein product NA Standard NM_001195243 NM_001195243 NA Approved uc003voy.3 H3BMG3 OTTHUMG00000157696 ENST00000462322.2:c.4-3190A>G chr7.hg19:g.129148898A>G NA hg19 CCDS59077.1 0.02 -0.201703 CCTxTAA COVERED NOVEL SMKR1-001 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000349421.3 4 2.406683 KEEP 0 0 0 8 240 AA 0.99257 0.4869 0 + 3 52 104 0 0 8.092205 18 60 510 49 ENST00000462322.2 0.142857 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 129846578 129846578 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:129846578A>G NA NA TMEM209 (1240 upstream) : SSMEM1 (1121 downstream) NA NA NA tgtaatcccaacactttggga 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.129846578A>G NA hg19 0.02 -0.245518 CCAxCAC COVERED NOVEL 0 1 3.00861 KEEP 0 0 0 10 304 AA 0.992708 0.63667 0 4 60 131 0 0 10.237552 21 60 613 59 0.16 0.641347 CPA4 51200 __UNKNOWN__ __UNKNOWN__ 7 129963777 129963777 __UNKNOWN__ 3'UTR SNP T T G rs138933581|rs373502343 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:129963777T>G ENST00000222482.4 + 0 2555 CPA4_ENST00000445470.2_3'UTR NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 NA NA histone acetylation (GO:0016573) extracellular region (GO:0005576) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) gtgtgtgtgtttgtgtgtgtg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF095719 CCDS5818.1, CCDS55163.1 7q32 2008-07-18 ENSG00000128510 ENSG00000128510 51200 15740 protein-coding gene gene with protein product carboxypeptidase A3 607635 NA 10383164, 10860668 Standard NM_016352 NM_016352 NA Approved CPA3 uc003vpr.3 Q9UI42 OTTHUMG00000157825 ENST00000222482.4:c.*1261T>G chr7.hg19:g.129963777T>G NA B7Z576|Q86UY9 hg19 CCDS5818.1 0.02 1.906712 TGTxTGT COVERED NOVEL CPA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349725.1 17 4.15816 KEEP 0 2 48 31 883 TT 0.999998 0.999108 0 + 9 60 266 1 1 19.647286 55 60 1374 131 ENST00000222482.4 0.140625 0.99911 MKLN1 4289 __UNKNOWN__ __UNKNOWN__ 7 131177243 131177243 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:131177243A>C ENST00000352689.6 + 0 7004 NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) gtaatcccagacctttgggag 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047489 CCDS34754.1 7q32 2008-07-18 ENSG00000128585 ENSG00000128585 4289 7109 protein-coding gene gene with protein product 605623 NA 10640805 Standard NM_013255 NM_001145354 NA Approved TWA2 uc011kpm.2 Q9UL63 OTTHUMG00000154880 ENST00000352689.6:c.*4756A>C chr7.hg19:g.131177243A>C NA A4D1M8|A6NG43|Q9NSK4|Q9NUS8 hg19 CCDS34754.1 0.02 7.700978 CAGxCCT COVERED NOVEL MKLN1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337473.4 33 7.9401 KEEP 0 2 64 49 1472 AA 1 1 0 + 8 60 253 0 0 15.00653 168 60 5011 344 ENST00000352689.6 0.045455 1 MKLN1 4289 __UNKNOWN__ __UNKNOWN__ 7 131177244 131177244 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:131177244C>A ENST00000352689.6 + 0 7005 NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) taatcccagacctttgggagg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047489 CCDS34754.1 7q32 2008-07-18 ENSG00000128585 ENSG00000128585 4289 7109 protein-coding gene gene with protein product 605623 NA 10640805 Standard NM_013255 NM_001145354 NA Approved TWA2 uc011kpm.2 Q9UL63 OTTHUMG00000154880 ENST00000352689.6:c.*4757C>A chr7.hg19:g.131177244C>A NA A4D1M8|A6NG43|Q9NSK4|Q9NUS8 hg19 CCDS34754.1 0.02 6.157417 AGAxCTT COVERED NOVEL MKLN1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337473.4 37 9.587636 KEEP 1 2 54 51 1723 CC 1 1 0 + 9 60 252 0 0 13.906496 176 60 5906 358 ENST00000352689.6 0.048649 1 MKLN1 4289 __UNKNOWN__ __UNKNOWN__ 7 131177416 131177416 __UNKNOWN__ 3'UTR SNP A A G rs1138264 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:131177416A>G ENST00000352689.6 + 0 7177 NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) gatcacttgaacccaggagtt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047489 CCDS34754.1 7q32 2008-07-18 ENSG00000128585 ENSG00000128585 4289 7109 protein-coding gene gene with protein product 605623 NA 10640805 Standard NM_013255 NM_001145354 NA Approved TWA2 uc011kpm.2 Q9UL63 OTTHUMG00000154880 ENST00000352689.6:c.*4929A>G chr7.hg19:g.131177416A>G NA A4D1M8|A6NG43|Q9NSK4|Q9NUS8 hg19 CCDS34754.1 0.02 2.018289 TGAxCCC COVERED NOVEL MKLN1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337473.4 9 6.909339 KEEP 1 0 0 23 678 AA 0.999892 0.993595 0 + 4 60 136 0 0 9.223842 53 60 1440 98 ENST00000352689.6 0.070175 0.993703 PODXL 5420 __UNKNOWN__ __UNKNOWN__ 7 131198914 131198914 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:131198914T>C ENST00000378555.3 - 2 348 PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_Intron|PODXL_ENST00000541194.1_Intron|PODXL_ENST00000537928.1_Intron O00592 PODXL_HUMAN podocalyxin-like NA NA cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534) apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) cggtggctcatgcctgtaatc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34755.1, CCDS47714.1 7q32-q33 2008-07-18 ENSG00000128567 ENSG00000128567 5420 9171 protein-coding gene gene with protein product 602632 NA Standard NM_001018111 NM_001018111 NA Approved PCLP, Gp200, PC uc003vqx.4 O00592 OTTHUMG00000154918 ENST00000378555.3:c.101-2722A>G chr7.hg19:g.131198914T>C NA A6NHX8|Q52LZ7|Q53ER6 hg19 CCDS34755.1 0.02 -0.35935 TCAxGCC COVERED NOVEL PODXL-005 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000337627.2 11 3.310143 KEEP 0 0 0 11 350 TT 0.993072 0.882717 0 - 3 60 100 0 0 6.875994 35 60 1023 73 ENST00000378555.3 0.078947 0.888875 AKR1B10 57016 __UNKNOWN__ __UNKNOWN__ 7 134212528 134212528 __UNKNOWN__ 5'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:134212528A>G ENST00000359579.4 + 0 185 AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) NA NA cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 aacccaggagacagaggttgt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF052577 CCDS5832.1 7q33 2010-04-08 ENSG00000198074 ENSG00000198074 57016 Aldo-keto reductases 382 protein-coding gene gene with protein product aldose reductase-like 1, aldo-keto reductase family 1, member B11 (aldose reductase-like), aldose reductase-like peptide, aldose reductase-related protein, small intestine reductase 604707 AKR1B11 NA 9765596, 9565553 Standard NM_020299 NM_020299 NA Approved AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn uc003vrr.3 O60218 OTTHUMG00000155356 ENST00000359579.4:c.-136A>G chr7.hg19:g.134212528A>G NA A4D1P1|O75890|Q6FHF3|Q8IWZ1 hg19 CCDS5832.1 0.02 5.914925 GAGxCAG COVERED NOVEL AKR1B10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339615.1 7 3.070005 KEEP 1 2 65 33 985 AA 0.999999 0.999999 0 + 9 60 287 1 0 18.620756 127 60 3714 232 ENST00000359579.4 0.066176 1 CALD1 800 __UNKNOWN__ __UNKNOWN__ 7 134556875 134556875 __UNKNOWN__ Intron SNP C C T rs10243483 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:134556875C>T ENST00000361675.2 + 3 300 CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000422748.1_Intron Q05682 CALD1_HUMAN caldesmon 1 NA NA cellular component movement (GO:0006928)|muscle contraction (GO:0006936) actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886) actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 tcccagcactctgggaggctg 0.512 NA T||| 1640 0.327476 0.4947 0.1527 5008 , , NA 20159 0.2431 NA 0.2425 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M64110 CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2 7q33 2007-04-23 ENSG00000122786 ENSG00000122786 800 1441 protein-coding gene gene with protein product 114213 NA 1885618 Standard NM_033138 NM_004342 NA Approved CDM, H-CAD, L-CAD uc003vrz.3 Q05682 OTTHUMG00000155407 ENST00000361675.2:c.71+4320C>T chr7.hg19:g.134556875C>T NA A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91 hg19 CCDS5835.1 0.02 -0.289488 ACTxTGG COVERED NOVEL CALD1-005 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339939.1 6 2.708994 KEEP 0 0 0 9 332 CC 0.99254 0.755211 0 + 5 60 147 0 0 11.064818 27 60 927 64 ENST00000361675.2 0.15625 0.760887 CNOT4 4850 __UNKNOWN__ __UNKNOWN__ 7 135069303 135069303 __UNKNOWN__ Intron SNP T T C rs201684780 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:135069303T>C ENST00000473470.1 - 1 306 CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000414802.1_3'UTR|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000423368.2_Intron O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|nucleus (GO:0005634) ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 tcccaaagtgttgggattaca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(51;766 1130 5502 35047 50875) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF180475 CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1 7q33 2013-09-19 ENSG00000080802 ENSG00000080802 4850 RNA binding motif (RRM) containing 7880 protein-coding gene gene with protein product 604911 NOT4 NA 10637334 Standard NM_013316 NM_013316 NA Approved CLONE243, NOT4H uc011kpy.2 O95628 OTTHUMG00000155568 ENST00000473470.1:c.401+3030A>G chr7.hg19:g.135069303T>C NA B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6 hg19 0.02 12.053164 GTGxTGG COVERED NOVEL CNOT4-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000340675.1 54 34.808277 KEEP 2 12 416 261 7827 TT 1 1 0 - 20 60 659 1 0 43.562252 280 60 8107 802 ENST00000473470.1 0.066667 1 CNOT4 4850 __UNKNOWN__ __UNKNOWN__ 7 135095264 135095264 __UNKNOWN__ Splice_Site SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:135095264C>T ENST00000423368.2 - 7 1102 c.e7+1 CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000541284.1_Splice_Site|CNOT4_ENST00000414802.1_Splice_Site|CNOT4_ENST00000315544.5_Splice_Site|CNOT4_ENST00000356162.4_Splice_Site|CNOT4_ENST00000428680.2_Intron|CNOT4_ENST00000361528.4_Intron NM_001190847.1|NM_013316.3 NP_001177776.1|NP_037448.2 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|nucleus (GO:0005634) ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 TCAATACTTACGTATCATACC 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(51;766 1130 5502 35047 50875) NA 0 115 114 114 NA NA NA 7 NA NA 135095264 1870 4098 5968 SO:0001630 splice_region_variant AF180475 CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1 7q33 2013-09-19 ENSG00000080802 ENSG00000080802 4850 RNA binding motif (RRM) containing 7880 protein-coding gene gene with protein product 604911 NOT4 NA 10637334 Standard NM_013316 NM_013316 NA Approved CLONE243, NOT4H uc011kpy.2 O95628 OTTHUMG00000155568 ENST00000423368.2:c.821+1G>A chr7.hg19:g.135095264C>T NA B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6 hg19 CCDS55164.1 0.02 -0.333349 TTAxGTA COVERED . . . . . . . . . . C 16.71 3.199677 0.58126 . . ENSG00000080802 ENST00000541284;ENST00000423368;ENST00000262563;ENST00000414802;ENST00000356162;ENST00000315544 . . . 5.42 3.51 0.40186 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 8.1446 0.31104 0.0:0.6785:0.1613:0.1602 . . . . . -1 . . . - . . CNOT4 134745804 0.512000 0.26186 1.000000 0.80357 0.977000 0.68977 0.277000 0.18734 2.542000 0.85734 0.655000 0.94253 . NOVEL CNOT4-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340668.1 1 4.815727 KEEP 0 0 0 16 560 CC 0.997832 0.850137 0 Intron - 4 60 119 0 0 8.259027 34 60 1140 78 ENST00000423368.2 0.105263 0.851984 NUP205 23165 __UNKNOWN__ __UNKNOWN__ 7 135322900 135322900 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:135322900A>G ENST00000285968.6 + 37 5291 NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 gctcacgcctataatcccagc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D86978 CCDS34759.1 7q31.32 2007-03-26 2004-01-06 2004-01-07 ENSG00000155561 ENSG00000155561 23165 18658 protein-coding gene gene with protein product 614352 chromosome 7 open reading frame 14 C7orf14 NA 9039502, 9348540 Standard NM_015135 NA Approved KIAA0225 uc003vsw.3 Q92621 OTTHUMG00000155497 ENST00000285968.6:c.5265+93A>G chr7.hg19:g.135322900A>G NA A6H8X3|Q86YC1 hg19 CCDS34759.1 0.02 -0.394573 CCTxTAA COVERED NOVEL NUP205-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340358.1 5 4.211347 KEEP 1 0 0 14 408 AA 0.995343 0.93014 0 + 3 60 104 1 0 7.311755 34 60 926 73 ENST00000285968.6 0.081081 0.934492 MTPN 136319 __UNKNOWN__ __UNKNOWN__ 7 135613054 135613054 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:135613054C>A ENST00000393085.3 - 0 2192 AC015987.2_ENST00000416501.1_3'UTR|AC015987.1_ENST00000419211.1_RNA NM_001128619.2|NM_145808.3 NP_001122091.2|NP_665807.1 P58546 MTPN_HUMAN myotrophin NA NA catecholamine metabolic process (GO:0006584)|cell growth (GO:0016049)|cerebellar granule cell differentiation (GO:0021707)|neuron differentiation (GO:0030182)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell growth (GO:0030307)|positive regulation of macromolecule biosynthetic process (GO:0010557)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein metabolic process (GO:0051247)|regulation of barbed-end actin filament capping (GO:2000812)|regulation of striated muscle tissue development (GO:0016202)|regulation of translation (GO:0006417)|skeletal muscle tissue regeneration (GO:0043403)|striated muscle cell differentiation (GO:0051146) axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|nucleus (GO:0005634) endometrium(1)|lung(4)|prostate(1) 6 acacacacacccacacacacc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AC015987 CCDS5842.1 7q33-q35 2013-01-10 ENSG00000105887 ENSG00000105887 136319 Ankyrin repeat domain containing 15667 protein-coding gene gene with protein product granule cell differentiation protein 606484 NA 11474205 Standard NM_145808 NM_145808 NA Approved MYOTROPHIN, GCDP, V-1 P58546 OTTHUMG00000155627 ENST00000393085.3:c.*1620G>T chr7.hg19:g.135613054C>A NA hg19 CCDS5842.1 0.02 2.494147 CACxCAC COVERED NOVEL MTPN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340921.1 21 12.034108 KEEP 0 0 0 40 1366 CC 1 1 0 - 7 60 198 0 0 11.353438 122 70 4044 251 ENST00000393085.3 0.054264 1 AC009784.3 0 __UNKNOWN__ __UNKNOWN__ 7 135992280 135992280 __UNKNOWN__ lincRNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:135992280G>A ENST00000445293.2 + 0 614 NA NA NA cacgtgcctcggcctcccaaa 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000445293.2: chr7.hg19:g.135992280G>A NA hg19 0.02 -0.184191 CTCxGCC COVERED NOVEL AC009784.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000340909.2 8 3.009729 KEEP 1 0 0 10 350 GG 0.992708 0.42039 0 + 3 60 86 0 0 6.511046 15 60 486 46 ENST00000445293.2 0.166667 0.423478 hsa-mir-490 0 __UNKNOWN__ __UNKNOWN__ 7 136816951 136816951 __UNKNOWN__ RNA SNP C C T rs112292403 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:136816951C>T ENST00000439694.1 - 0 164 hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000599888.2_RNA NA NA NA ttagtagagacggggtttcgc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000439694.1: chr7.hg19:g.136816951C>T NA hg19 0.02 2.630935 AGAxGGG COVERED NOVEL hsa-mir-490.1-001 KNOWN basic antisense NA antisense OTTHUMT00000341008.1 14 10.533259 KEEP 2 0 0 35 1182 CC 0.999999 0.99999 0 - 7 70 202 0 0 12.699753 88 60 2856 176 ENST00000439694.1 0.073684 0.999992 hsa-mir-490 0 __UNKNOWN__ __UNKNOWN__ 7 136816970 136816970 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:136816970T>C ENST00000439694.1 - 0 164 hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000599888.2_RNA NA NA NA gccatgttggtcaggctggtc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000439694.1: chr7.hg19:g.136816970T>C NA hg19 0.02 3.724894 TGGxCAG COVERED NOVEL hsa-mir-490.1-001 KNOWN basic antisense NA antisense OTTHUMT00000341008.1 18 8.358305 KEEP 2 1 32 39 1193 TT 1 0.999999 0 - 6 70 204 0 0 13.156737 104 70 3024 221 ENST00000439694.1 0.054545 0.999999 hsa-mir-490 0 __UNKNOWN__ __UNKNOWN__ 7 136817181 136817181 __UNKNOWN__ RNA SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:136817181G>C ENST00000439694.1 - 0 164 hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000599888.2_RNA NA NA NA gtagtcctaggtactcaggag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000439694.1: chr7.hg19:g.136817181G>C NA hg19 0.02 6.031748 TAGxTAC COVERED NOVEL hsa-mir-490.1-001 KNOWN basic antisense NA antisense OTTHUMT00000341008.1 21 12.940295 KEEP 0 0 0 43 1476 GG 1 1 0 - 10 60 320 0 0 21.079296 132 60 4356 247 ENST00000439694.1 0.070423 1 DGKI 9162 __UNKNOWN__ __UNKNOWN__ 7 137080392 137080392 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:137080392G>C ENST00000288490.5 - 33 3033 c.3033C>G c.(3031-3033)tgC>tgG p.C1011W DGKI_ENST00000453654.2_Missense_Mutation_p.C680W|DGKI_ENST00000424189.2_Missense_Mutation_p.C1024W|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.C993W NM_004717.2 NP_004708.1 O75912 DGKI_HUMAN diacylglycerol kinase, iota 1011 NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317) cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCAGAAGCTGGCACACAGCCC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 77 67 71 NA NA NA 7 NA NA 137080392 2203 4300 6503 SO:0001583 missense AF061936 CCDS5845.1 7q32.3-q33 2013-01-10 ENSG00000157680 ENSG00000157680 9162 Ankyrin repeat domain containing 2855 protein-coding gene gene with protein product 604072 NA 9830018 Standard NM_004717 NM_004717 NA Approved DGK-IOTA uc003vtt.3 O75912 OTTHUMG00000155697 ENST00000288490.5:c.3033C>G chr7.hg19:g.137080392G>C ENSP00000288490:p.Cys1011Trp NA A4D1Q9|Q9NZ49 hg19 CCDS5845.1 0.02 5.769087 CTGxCAC COVERED . . . . . . . . . . G 21.5 4.165065 0.78339 . . ENSG00000157680 ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122 T;T;T 0.64991 -0.13;-0.13;-0.13 5.35 5.35 0.76521 Ankyrin repeat-containing domain (3); 0.000000 0.85682 D 0.000000 D 0.82843 0.5125 M 0.86864 2.845 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 D 0.85563 0.1229 10 0.87932 D 0 . 19.4396 0.94813 0.0:0.0:1.0:0.0 . 680;1011 E9PFX6;O75912 .;DGKI_HUMAN W 680;928;1014;1011;993 ENSP00000392161:C680W;ENSP00000288490:C1011W;ENSP00000399131:C993W ENSP00000288490:C1011W C - 3 2 DGKI 136730932 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.890000 0.75633 2.652000 0.90054 0.650000 0.86243 TGC NOVEL DGKI-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341286.3 1 32.501949 KEEP 0 0 0 108 3870 GG 1 1 0 - 15 60 512 0 0 35.870235 167 60 5636 379 ENST00000288490.5 0.082418 1 AKR1D1 6718 __UNKNOWN__ __UNKNOWN__ 7 137776344 137776344 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:137776344A>G ENST00000432161.1 + 3 348 AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000242375.3_Intron|AKR1D1_ENST00000468877.2_Intron NM_001190907.1 NP_001177836.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 NA NA androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496) endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 Azelaic Acid(DB00548)|Finasteride(DB01216) gggaggctgaagtgggcagat 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z28339 CCDS5846.1, CCDS55169.1, CCDS55170.1 7q32-q33 2012-12-04 2012-12-04 ENSG00000122787 ENSG00000122787 6718 1.3.99.6 Aldo-keto reductases 388 protein-coding gene gene with protein product delta 4-3-ketosteroid-5-beta-reductase 604741 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) SRD5B1 NA 7508385, 10343119 Standard NM_005989 NM_005989 NA Approved uc003vtz.3 P51857 OTTHUMG00000155787 ENST00000432161.1:c.262-170A>G chr7.hg19:g.137776344A>G NA A1L4P6|A8K060|B4DPN3|B4DPN8 hg19 CCDS55169.1 0.02 -0.297971 TGAxGTG COVERED NOVEL AKR1D1-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000341643.1 8 3.009469 KEEP 2 0 0 10 327 AA 0.992708 0.775364 0 + 3 60 102 1 0 7.310298 29 60 831 61 ENST00000432161.1 0.09375 0.78106 AKR1D1 6718 __UNKNOWN__ __UNKNOWN__ 7 137776373 137776373 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:137776373A>C ENST00000432161.1 + 3 348 AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000242375.3_Intron|AKR1D1_ENST00000468877.2_Intron NM_001190907.1 NP_001177836.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 NA NA androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496) endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 Azelaic Acid(DB00548)|Finasteride(DB01216) cccaggagttaaagaccagcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z28339 CCDS5846.1, CCDS55169.1, CCDS55170.1 7q32-q33 2012-12-04 2012-12-04 ENSG00000122787 ENSG00000122787 6718 1.3.99.6 Aldo-keto reductases 388 protein-coding gene gene with protein product delta 4-3-ketosteroid-5-beta-reductase 604741 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) SRD5B1 NA 7508385, 10343119 Standard NM_005989 NM_005989 NA Approved uc003vtz.3 P51857 OTTHUMG00000155787 ENST00000432161.1:c.262-141A>C chr7.hg19:g.137776373A>C NA A1L4P6|A8K060|B4DPN3|B4DPN8 hg19 CCDS55169.1 0.02 -0.412009 GTTxAAG COVERED NOVEL AKR1D1-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000341643.1 8 3.310104 KEEP 2 0 0 11 344 AA 0.993072 0.953209 0 + 4 60 132 0 0 9.375581 38 70 1036 87 ENST00000432161.1 0.095238 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 138008139 138008139 __UNKNOWN__ IGR SNP A A G rs13230368 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:138008139A>G NA NA SNORA51 (135264 upstream) : Y_RNA (92085 downstream) NA NA NA aaagaaagaaagaaggaagga 0.418 NA a||| 4 0.000798722 8e-04 0 5008 , , NA 18140 0.001 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.138008139A>G NA hg19 0.02 -0.21051 GAAxGAA COVERED NOVEL 0 4 2.70861 KEEP 0 0 0 9 300 AA 0.99254 0.518266 0 3 60 104 0 0 7.905408 21 60 644 54 0.125 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 138126002 138126002 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:138126002G>T NA NA Y_RNA (25683 upstream) : TRIM24 (19076 downstream) NA NA NA TTGAGCTGGTGGTGGCTCCAG 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.138126002G>T NA hg19 0.02 1.370999 GGTxGTG COVERED NOVEL 0 0 11.136641 KEEP 0 0 0 37 1332 GG 1 0.999407 0 7 60 206 0 0 13.601829 74 60 2536 166 0.08642 0.999407 TRIM24 8805 __UNKNOWN__ __UNKNOWN__ 7 138267030 138267030 __UNKNOWN__ Intron SNP A A G rs185131734 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:138267030A>G ENST00000343526.4 + 17 3008 TRIM24_ENST00000415680.2_Intron O15164 TIF1A_HUMAN tripartite motif containing 24 NA NA calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366) cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726) chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 gctcacgcctataatcccagc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF009353 CCDS5847.1, CCDS47720.1 7q32-q34 2013-01-28 2011-01-25 2005-06-02 ENSG00000122779 ENSG00000122779 8805 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Zinc fingers, PHD-type 11812 protein-coding gene gene with protein product 603406 transcriptional intermediary factor 1, tripartite motif-containing 24 TIF1 NA 9115274, 9191165 Standard NM_015905 NM_003852 NA Approved hTIF1, Tif1a, RNF82, TIF1A uc003vuc.3 O15164 OTTHUMG00000155820 ENST00000343526.4:c.2793+514A>G chr7.hg19:g.138267030A>G NA A4D1R7|A4D1R8|O95854 hg19 CCDS5847.1 0.02 -0.384421 CCTxTAA COVERED NOVEL TRIM24-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341814.1 3 2.708324 KEEP 4 0 0 9 283 AA 0.99254 0.911321 0 + 4 60 138 0 0 9.896649 40 60 1057 91 ENST00000343526.4 0.090909 0.918171 KIAA1549 57670 __UNKNOWN__ __UNKNOWN__ 7 138519157 138519157 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:138519157A>G ENST00000440172.1 - 0 9347 KIAA1549_ENST00000242365.4_3'UTR|TMEM213_ENST00000413208.1_Intron NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 NA NA integral component of membrane (GO:0016021) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 gcctcccaaaatgctgggatt 0.433 NA O BRAF pilocytic astrocytoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(119;1534 1718 44213 46230 50068) Dom yes 7 7q34 57670 KIAA1549 O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS47723.1, CCDS47723.2, CCDS56513.1 7q34 2009-10-09 ENSG00000122778 ENSG00000122778 57670 22219 protein-coding gene gene with protein product 613344 NA Standard NM_020910 NA Approved uc011kql.2 Q9HCM3 OTTHUMG00000157214 ENST00000440172.1:c.*3494T>C chr7.hg19:g.138519157A>G NA B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3 hg19 CCDS47723.2 0.02 -0.385889 AAAxTGC COVERED NOVEL KIAA1549-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000347938.2 5 3.009272 KEEP 1 0 0 10 319 AA 0.99254 0.934716 0 - 7 60 228 1 0 18.171605 32 60 933 77 ENST00000440172.1 0.179487 0.941741 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138745324 138745324 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:138745324T>C ENST00000242351.5 - 9 2413 ZC3HAV1_ENST00000464606.1_Intron|ZC3HAV1_ENST00000471652.1_3'UTR NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 cggtggctcatgcctgtaatc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.2096+457A>G chr7.hg19:g.138745324T>C NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 1.552567 TCAxGCC COVERED NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 10 6.353644 KEEP 0 1 31 32 1019 TT 0.999998 0.99962 0 - 5 60 159 1 0 10.227708 73 60 2145 138 ENST00000242351.5 0.064103 0.999622 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138757212 138757212 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:138757212A>C ENST00000242351.5 - 7 2189 ZC3HAV1_ENST00000464606.1_Intron|ZC3HAV1_ENST00000471652.1_Intron NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 ggattacaggagtgagccacc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.1872+1389T>G chr7.hg19:g.138757212A>C NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 -0.245584 AGGxGTG COVERED NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 11 2.407388 KEEP 0 0 0 8 254 AA 0.99257 0.688515 0 - 3 48 95 0 0 6.792963 25 60 750 53 ENST00000242351.5 0.107143 0.693668 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138758508 138758508 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:138758508C>A ENST00000242351.5 - 7 2189 ZC3HAV1_ENST00000464606.1_Intron|ZC3HAV1_ENST00000471652.1_Intron NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 aagtgctgggcttacaggcat 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.1872+93G>T chr7.hg19:g.138758508C>A NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 3.303327 GGGxTTA COVERED NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 13 3.617127 KEEP 1 3 97 46 1656 CC 1 0.999973 0 - 9 60 268 0 0 18.493846 79 60 2656 187 ENST00000242351.5 0.102273 0.999973 CLEC2L 154790 __UNKNOWN__ __UNKNOWN__ 7 139216392 139216392 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:139216392T>C ENST00000422142.2 + 2 262 NM_001080511.2 NP_001073980.2 P0C7M8 CLC2L_HUMAN C-type lectin domain family 2, member L NA NA integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) NS(1)|endometrium(1)|kidney(2)|lung(1) 5 Melanoma(164;0.233) tggtggctcatgcctgtaatc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057548 CCDS47724.1 7q34 2011-05-18 ENSG00000236279 ENSG00000236279 154790 C-type lectin domain containing 21969 protein-coding gene gene with protein product NA Standard NM_001080511 NM_001080511 NA Approved FLJ32986 uc010lnd.3 P0C7M8 OTTHUMG00000164900 ENST00000422142.2:c.191-4628T>C chr7.hg19:g.139216392T>C NA hg19 CCDS47724.1 0.02 -0.254006 TCAxGCC COVERED NOVEL CLEC2L-001 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380878.1 13 3.009198 KEEP 7 0 0 10 319 TT 0.99257 0.663556 0 + 3 52 98 0 0 7.144744 24 60 677 61 ENST00000422142.2 0.111111 0.668523 TBXAS1 6916 __UNKNOWN__ __UNKNOWN__ 7 139572193 139572193 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:139572193G>C ENST00000455353.1 + 2 320 TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000539806.1_Intron|TBXAS1_ENST00000416849.2_Intron|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000336425.5_Intron|TBXAS1_ENST00000448866.1_Intron|TBXAS1_ENST00000436047.2_Intron|TBXAS1_ENST00000263552.6_Intron|TBXAS1_ENST00000458722.1_Intron P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) NA NA arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796) breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) Ridogrel(DB01207)|Sulfasalazine(DB00795) gtggctcatggctgtaatccc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36085 CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1 7q34-q35 2014-09-17 2008-07-31 ENSG00000059377 ENSG00000059377 6916 5.3.99.5 Cytochrome P450s 11609 protein-coding gene gene with protein product cytochrome P450, family 5, subfamily A, polypeptide 1 274180 thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V) NA 1714723, 8964509 Standard NM_001061 NA Approved CYP5, CYP5A1, THAS, TXS, TXAS, TS uc011kqv.2 P24557 OTTHUMG00000157302 ENST00000455353.1:c.183+66G>C chr7.hg19:g.139572193G>C NA B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84 hg19 0.02 -0.377198 ATGxCTG COVERED NOVEL TBXAS1-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000348380.1 6 4.514629 KEEP 0 0 0 15 534 GG 0.99649 0.914948 0 + 3 60 101 0 0 6.975494 35 60 1149 66 ENST00000455353.1 0.078947 0.918171 RAB19 401409 __UNKNOWN__ __UNKNOWN__ 7 140121436 140121436 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:140121436T>C ENST00000356407.3 + 3 453 RAB19_ENST00000537763.1_Intron|RAB19_ENST00000275874.5_Intron A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family NA NA protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) GTP binding (GO:0005525) breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) agattacaggtgtgagccacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34762.1, CCDS34762.2 7q34 2014-05-09 ENSG00000146955 ENSG00000146955 401409 RAB, member RAS oncogene 19982 protein-coding gene gene with protein product NA Standard NM_001008749 NA Approved RAB19B uc010lni.2 A4D1S5 OTTHUMG00000157410 ENST00000356407.3:c.386-4246T>C chr7.hg19:g.140121436T>C NA A4D1S6|B2RTS6|B5MDR2|Q9UL27 hg19 CCDS34762.2 0.02 -0.385844 AGGxGTG COVERED NOVEL RAB19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348740.1 12 2.706524 KEEP 0 0 0 9 262 TT 0.99254 0.919727 0 + 3 60 105 0 0 7.375353 35 60 1017 79 ENST00000356407.3 0.078947 0.92664 MKRN1 23608 __UNKNOWN__ __UNKNOWN__ 7 140175083 140175083 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:140175083T>C ENST00000255977.2 - 2 410 MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Intron|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000481705.1_Intron|MKRN1_ENST00000474576.1_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 NA NA protein polyubiquitination (GO:0000209) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) gcagaggttgtagtgagccga 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF192784 CCDS5860.1, CCDS47725.1 7q34 2013-01-09 2008-08-13 ENSG00000133606 ENSG00000133606 23608 RING-type (C3HC4) zinc fingers 7112 protein-coding gene gene with protein product 607754 NA 10843807 Standard NM_013446 NM_013446 NA Approved RNF61 uc003vvt.2 Q9UHC7 OTTHUMG00000157412 ENST00000255977.2:c.186-3272A>G chr7.hg19:g.140175083T>C NA A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2 hg19 CCDS5860.1 0.02 5.56142 TTGxAGT COVERED NOVEL MKRN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348752.1 31 12.567976 KEEP 0 1 35 54 1563 TT 1 1 0 - 13 60 418 1 0 28.223209 153 60 4126 319 ENST00000255977.2 0.078313 1 MKRN1 23608 __UNKNOWN__ __UNKNOWN__ 7 140175225 140175225 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:140175225C>T ENST00000255977.2 - 2 410 MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Intron|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000481705.1_Intron|MKRN1_ENST00000474576.1_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 NA NA protein polyubiquitination (GO:0000209) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) tttaggaggccgaggcgggtg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF192784 CCDS5860.1, CCDS47725.1 7q34 2013-01-09 2008-08-13 ENSG00000133606 ENSG00000133606 23608 RING-type (C3HC4) zinc fingers 7112 protein-coding gene gene with protein product 607754 NA 10843807 Standard NM_013446 NM_013446 NA Approved RNF61 uc003vvt.2 Q9UHC7 OTTHUMG00000157412 ENST00000255977.2:c.186-3414G>A chr7.hg19:g.140175225C>T NA A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2 hg19 CCDS5860.1 0.02 1.228088 GGCxGAG COVERED NOVEL MKRN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348752.1 17 8.426655 KEEP 0 0 0 28 936 CC 0.999997 0.999723 0 - 5 60 145 0 0 8.694659 78 60 2425 144 ENST00000255977.2 0.060241 0.999726 DENND2A 27147 __UNKNOWN__ __UNKNOWN__ 7 140244264 140244264 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:140244264A>G ENST00000275884.6 - 13 2745 DENND2A_ENST00000492720.1_3'UTR|DENND2A_ENST00000537639.1_Intron|DENND2A_ENST00000496613.1_Intron Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A NA NA positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) caaagtgctgagattacaggt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033103 CCDS43659.1 7q34 2012-10-03 2005-08-17 2005-08-17 ENSG00000146966 ENSG00000146966 27147 DENN/MADD domain containing 22212 protein-coding gene gene with protein product KIAA1277 KIAA1277 NA Standard NM_015689 NM_015689 NA Approved FAM31D uc010lnj.3 Q9ULE3 OTTHUMG00000157411 ENST00000275884.6:c.2327+153T>C chr7.hg19:g.140244264A>G NA C9JUI3|Q1RMD5|Q86XY0 hg19 CCDS43659.1 0.02 1.699101 CTGxGAT COVERED NOVEL DENND2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348742.1 12 2.978624 KEEP 0 2 69 34 1075 AA 0.999999 0.999834 0 - 4 60 142 0 0 9.107503 81 60 2442 172 ENST00000275884.6 0.047059 0.999835 DENND2A 27147 __UNKNOWN__ __UNKNOWN__ 7 140309089 140309089 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:140309089G>A ENST00000275884.6 - 2 273 DENND2A_ENST00000496613.1_Intron Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A NA NA positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) aaggcgggcggatctcttgag 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033103 CCDS43659.1 7q34 2012-10-03 2005-08-17 2005-08-17 ENSG00000146966 ENSG00000146966 27147 DENN/MADD domain containing 22212 protein-coding gene gene with protein product KIAA1277 KIAA1277 NA Standard NM_015689 NM_015689 NA Approved FAM31D uc010lnj.3 Q9ULE3 OTTHUMG00000157411 ENST00000275884.6:c.145-6747C>T chr7.hg19:g.140309089G>A NA C9JUI3|Q1RMD5|Q86XY0 hg19 CCDS43659.1 0.02 -0.236818 GCGxATC COVERED NOVEL DENND2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348742.1 5 3.00977 KEEP 0 0 0 10 349 GG 0.992708 0.607941 0 - 4 60 112 0 0 8.580373 18 60 584 56 ENST00000275884.6 0.181818 0.612407 DENND2A 27147 __UNKNOWN__ __UNKNOWN__ 7 140323263 140323263 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:140323263T>C ENST00000275884.6 - 1 273 DENND2A_ENST00000496613.1_Intron Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A NA NA positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) ggtgcggtggttcacgcctgt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033103 CCDS43659.1 7q34 2012-10-03 2005-08-17 2005-08-17 ENSG00000146966 ENSG00000146966 27147 DENN/MADD domain containing 22212 protein-coding gene gene with protein product KIAA1277 KIAA1277 NA Standard NM_015689 NM_015689 NA Approved FAM31D uc010lnj.3 Q9ULE3 OTTHUMG00000157411 ENST00000275884.6:c.144+17040A>G chr7.hg19:g.140323263T>C NA C9JUI3|Q1RMD5|Q86XY0 hg19 CCDS43659.1 0.02 -0.280551 TGGxTCA COVERED NOVEL DENND2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348742.1 6 3.309854 KEEP 1 0 0 11 355 TT 0.993072 0.734547 0 - 3 60 103 0 0 7.592323 25 60 735 68 ENST00000275884.6 0.107143 0.739671 BRAF 673 __UNKNOWN__ __UNKNOWN__ 7 140449150 140449150 __UNKNOWN__ Silent SNP T T C rs9648696 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:140449150T>C ENST00000288602.6 - 16 1989 c.1929A>G c.(1927-1929)ggA>ggG p.G643G NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN B-Raf proto-oncogene, serine/threonine kinase 643 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881) ACAGAACAATTCCAAATGCAT 0.348 61 Mis, T, O AKAP9, KIAA1549 melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome C||| 1758 0.351038 0.7451 0.1585 5008 , , NA 17576 0.1825 NA 0.1531 False NA ,,, NA NA NA 2504 0.3323 NA NA NA Colon(40;35 892 2973 5743 27438) Dom yes 7 7q34 673 v-raf murine sarcoma viral oncogene homolog B1 yes E 0 C 2904,1502 476.8+/-357.7 963,978,262 105 108 107 NA 1929 2.1 1 7 dbSNP_119 107 1258,7342 758.6+/-407.5 114,1030,3156 no coding-synonymous BRAF NM_004333.4 1077,2008,3418 CC,CT,TT NA 14.6279,34.0899,32.0006 643/767 140449150 4162,8844 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database CFC, CFCS M95712 CCDS5863.1 7q34 2014-09-17 2014-06-26 ENSG00000157764 ENSG00000157764 673 1097 protein-coding gene gene with protein product 164757 v-raf murine sarcoma viral oncogene homolog B NA 2284096, 1565476 Standard NM_004333 NM_004333 NA Approved BRAF1 uc003vwc.4 P15056 OTTHUMG00000157457 ENST00000288602.6:c.1929A>G chr7.hg19:g.140449150T>C NA A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3 hg19 CCDS5863.1 0.02 -0.201674 AATxCCA COVERED 611 0.27976190476190477 355 0.7215447154471545 58 0.16022099447513813 91 0.1590909090909091 107 0.14116094986807387 C 9.723 1.160251 0.21454 0.659101 0.146279 ENSG00000157764 ENST00000496384 . . . 5.02 2.11 0.27256 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.33317 -0.9873 3 . . . . 5.8585 0.18732 0.0:0.5864:0.1264:0.2872 rs9648696;rs10238189;rs60896634 . . . G 251 . . E - 2 0 BRAF 140095619 1.000000 0.71417 0.998000 0.56505 0.947000 0.59692 1.503000 0.35715 -0.010000 0.14271 -0.355000 0.07637 GAA NOVEL BRAF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348886.1 17 17.576531 KEEP 0 2 58 79 2320 TT 1 0.490544 0 - 11 60 347 0 0 33.035759 12 60 322 130 ENST00000288602.6 0.478261 0.490544 BRAF 673 __UNKNOWN__ __UNKNOWN__ 7 140476698 140476698 __UNKNOWN__ Intron SNP C C T rs184144181 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:140476698C>T ENST00000288602.6 - 13 1755 NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN B-Raf proto-oncogene, serine/threonine kinase NA NA activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881) AGACATTTAACGAATGGAACT 0.353 61 Mis, T, O AKAP9, KIAA1549 melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome C||| 4 0.000798722 0 0 5008 , , NA 19542 0.001 NA 0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Colon(40;35 892 2973 5743 27438) Dom yes 7 7q34 673 v-raf murine sarcoma viral oncogene homolog B1 yes E 0 C 0,4406 0,0,2203 77 76 76 NA -0.8 0.3 7 76 2,8598 2.2+/-6.3 0,2,4298 no intron BRAF NM_004333.4 0,2,6501 TT,TC,CC NA 0.0233,0.0,0.0154 140476698 2,13004 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database CFC, CFCS M95712 CCDS5863.1 7q34 2014-09-17 2014-06-26 ENSG00000157764 ENSG00000157764 673 1097 protein-coding gene gene with protein product 164757 v-raf murine sarcoma viral oncogene homolog B NA 2284096, 1565476 Standard NM_004333 NM_004333 NA Approved BRAF1 uc003vwc.4 P15056 OTTHUMG00000157457 ENST00000288602.6:c.1694+13G>A chr7.hg19:g.140476698C>T NA A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3 hg19 CCDS5863.1 0.02 -0.04383 TAAxGAA UNCOVERED NOVEL BRAF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348886.1 7 15.309332 KEEP 0 0 0 51 1678 CC 1 0.024074 0 - 3 60 76 0 0 7.566354 2 60 62 61 ENST00000288602.6 0.6 0.024074 BRAF 673 __UNKNOWN__ __UNKNOWN__ 7 140477737 140477737 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:140477737G>C ENST00000288602.6 - 12 1578 NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN B-Raf proto-oncogene, serine/threonine kinase NA NA activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881) TGGGAACCAGGAGCTAATAAA 0.348 61 Mis, T, O AKAP9, KIAA1549 melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(40;35 892 2973 5743 27438) Dom yes 7 7q34 673 v-raf murine sarcoma viral oncogene homolog B1 yes E 0 70 61 63 NA NA NA 7 NA NA 140477737 692 1591 2283 SO:0001627 intron_variant Familial Cancer Database CFC, CFCS M95712 CCDS5863.1 7q34 2014-09-17 2014-06-26 ENSG00000157764 ENSG00000157764 673 1097 protein-coding gene gene with protein product 164757 v-raf murine sarcoma viral oncogene homolog B NA 2284096, 1565476 Standard NM_004333 NM_004333 NA Approved BRAF1 uc003vwc.4 P15056 OTTHUMG00000157457 ENST00000288602.6:c.1517+53C>G chr7.hg19:g.140477737G>C NA A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3 hg19 CCDS5863.1 0.02 -0.209543 CAGxAGC COVERED NOVEL BRAF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348886.1 7 11.133406 KEEP 0 0 0 37 1216 GG 1 0.522161 0 - 9 60 321 0 0 29.527281 15 60 465 83 ENST00000288602.6 0.375 0.522161 AGK 55750 __UNKNOWN__ __UNKNOWN__ 7 141327938 141327938 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:141327938T>C ENST00000355413.4 + 10 848 AGK_ENST00000473247.1_Intron|AGK_ENST00000535825.1_Intron NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase NA NA ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205) intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739) acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951) breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) cctcggcctctcaaagtgctg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022777 CCDS5865.1 7q34 2010-05-04 2007-01-11 2007-01-11 ENSG00000006530 ENSG00000006530 55750 2.7.1.94 21869 protein-coding gene gene with protein product 610345 multiple substrate lipid kinase MULK NA 15252046, 15939762, 17135245 Standard NM_018238 NM_018238 NA Approved FLJ10842 uc003vwi.2 Q53H12 OTTHUMG00000157499 ENST00000355413.4:c.589-5763T>C chr7.hg19:g.141327938T>C NA Q75KN1|Q96GC3|Q9NP48 hg19 CCDS5865.1 0.02 -0.289032 CTCxCAA COVERED NOVEL AGK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348969.1 6 2.407666 KEEP 0 0 0 8 265 TT 0.99257 0.755234 0 + 4 60 132 1 0 10.06052 25 60 737 61 ENST00000355413.4 0.137931 0.760887 TRBV6-1 28606 __UNKNOWN__ __UNKNOWN__ 7 142028304 142028304 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:142028304T>C ENST00000390353.2 + 0 106 T cell receptor beta variable 6-1 NA NA NA TCAGCTTTGTTCTTCTCTGCA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 79 80 80 NA NA NA 7 NA NA 142028304 1943 4152 6095 X61446 7q34 2012-02-07 ENSG00000211706 ENSG00000211706 28606 T cell receptors / TRB locus 12226 other T cell receptor gene T-cell receptor beta chain V region C5 -like NA 8650574 Standard NG_001333 NG_001333 NA Approved TRBV61, TCRBV13S3, TCRBV6S1 OTTHUMG00000158531 ENST00000390353.2: chr7.hg19:g.142028304T>C NA hg19 0.02 3.341795 TGTxCTT COVERED NOVEL TRBV6-1-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000351237.1 0 9.278346 KEEP 1 2 72 56 1777 TT 1 1 0 + 7 40 212 0 0 12.560459 131 60 3909 281 ENST00000390353.2 0.050725 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 142948679 142948679 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:142948679C>G NA NA TAS2R40 (28517 upstream) : AC073342.12 (3677 downstream) NA NA NA caggaggattccttgagccca 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.142948679C>G NA hg19 0.02 -0.289467 ATTxCTT COVERED NOVEL 0 9 2.407784 KEEP 1 0 0 8 280 CC 0.99257 0.755234 0 3 60 103 0 0 7.452308 28 60 893 61 0.096774 0.760887 AC073342.12 0 __UNKNOWN__ __UNKNOWN__ 7 142953061 142953061 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:142953061A>G ENST00000427392.1 - 0 434 NA NA NA ggtggctcacacctgtaatcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000427392.1: chr7.hg19:g.142953061A>G NA hg19 0.02 -0.385813 CACxCCT COVERED NOVEL AC073342.12-001 KNOWN basic antisense NA antisense OTTHUMT00000327292.1 8 3.309714 KEEP 0 0 0 11 334 AA 0.993072 0.91181 0 - 3 60 107 0 0 7.472402 38 60 1102 86 ENST00000427392.1 0.073171 0.918171 EPHA1-AS1 285965 __UNKNOWN__ __UNKNOWN__ 7 143111334 143111334 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:143111334A>G ENST00000429289.1 + 0 74 EPHA1-AS1_ENST00000421648.1_RNA NR_033897.1 EPHA1 antisense RNA 1 NA NA NA gattacaggcatgagccactg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL833583 7q35 2012-10-12 2012-08-15 ENSG00000229153 ENSG00000229153 285965 Long non-coding RNAs 27799 non-coding RNA RNA, long non-coding EPHA1 antisense RNA 1 (non-protein coding) NA Standard NR_033897 NR_033897 NA Approved uc003wda.4 OTTHUMG00000155893 ENST00000429289.1: chr7.hg19:g.143111334A>G NA hg19 0.02 -0.385872 GGCxTGA COVERED NOVEL EPHA1-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000342151.1 3 2.708114 KEEP 1 0 0 9 278 AA 0.99254 0.911321 0 + 4 60 125 0 0 8.721213 37 60 1080 82 ENST00000429289.1 0.097561 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 143599943 143599943 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:143599943C>T NA NA FAM115A (695 upstream) : OR2F2 (32315 downstream) NA NA NA gtgctgggatcacaggcctga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.143599943C>T NA hg19 0.02 -0.192881 GATxACA COVERED NOVEL 0 3 2.407739 KEEP 0 0 0 8 280 CC 0.99257 0.4869 0 4 60 112 0 0 8.669331 17 60 567 43 0.190476 0.490544 CTAGE4 100128553 __UNKNOWN__ __UNKNOWN__ 7 143882673 143882673 __UNKNOWN__ Missense_Mutation SNP C C T rs201010806 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:143882673C>T ENST00000486333.1 + 1 2115 c.2077C>T c.(2077-2079)Ctt>Ttt p.L693F NM_198495.2 NP_940897.2 Q8IX94 CTGE4_HUMAN CTAGE family, member 4 693 Pro-rich. NA integral component of membrane (GO:0016021) endometrium(1)|ovary(2) 3 TGGCCCTGGCCTTATTCCTCC 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 3 4 4 NA NA NA 7 NA NA 143882673 116 650 766 SO:0001583 missense AF338232 CCDS55176.1 7q35 2009-10-15 ENSG00000225932 ENSG00000225932 100128553 24772 protein-coding gene gene with protein product cutaneous T-cell lymphoma-associated antigen 4 608910 NA 12839582, 11149944 Standard NM_198495 NM_198495 NA Approved FLJ43692, cTAGE-4 uc010lpc.3 Q8IX94 OTTHUMG00000157997 ENST00000486333.1:c.2077C>T chr7.hg19:g.143882673C>T ENSP00000419539:p.Leu693Phe NA A8K871|O95046 hg19 CCDS55176.1 0.02 2.999664 GGCxTTA COVERED . . . . . . . . . . . 0.639 -0.814097 0.02798 . . ENSG00000225932 ENST00000486333 T 0.05447 3.44 . . . . . . . . T 0.00666 0.0022 N 0.00016 -2.855 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.36625 -0.9740 7 0.02654 T 1 . . . . . 693 Q8IX94 CTGE4_HUMAN F 693 ENSP00000419539:L693F ENSP00000419539:L693F L + 1 0 CTAGE4 143513606 0.830000 0.29337 0.003000 0.11579 0.003000 0.03518 0.348000 0.20031 -1.497000 0.01826 -1.514000 0.00941 CTT NOVEL CTAGE4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349970.1 11 14.583064 KEEP 134 1 33 60 2164 CC 0.999997 0.999992 0 + 13 49 398 0 0 28.547651 99 50 3479 436 ENST00000486333.1 0.116071 0.999995 ARHGEF35 445328 __UNKNOWN__ __UNKNOWN__ 7 143884106 143884106 __UNKNOWN__ Silent SNP T T C rs1731348 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:143884106T>C ENST00000378115.2 - 2 1500 c.1371A>G c.(1369-1371)agA>agG p.R457R ARHGEF35_ENST00000543357.1_Silent_p.R457R NM_001003702.2 NP_001003702.2 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 35 457 NA kidney(1)|large_intestine(1)|lung(3)|stomach(1) 6 GGTGAGAGCATCTGATGGGCT 0.507 NA -||| 16 0.00319489 0.0068 0.0058 5008 , , NA 14420 0 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 30 31 31 NA NA NA 7 NA NA 143884106 2132 4138 6270 SO:0001819 synonymous_variant AK125680 CCDS34770.1 7q35 2012-07-24 2010-04-13 2010-04-13 ENSG00000213214 ENSG00000213214 445328 Rho guanine nucleotide exchange factors 33846 protein-coding gene gene with protein product Rho guanine nucleotide exchange factor (GEF) 5-like ARHGEF5L NA Standard NM_001003702 NM_001003702 NA Approved FLJ43692, CTAGE4 uc003wdz.2 A5YM69 OTTHUMG00000158010 ENST00000378115.2:c.1371A>G chr7.hg19:g.143884106T>C NA Q6ZUI2 hg19 CCDS34770.1 0.02 3.060809 GCAxCTG COVERED NOVEL ARHGEF35-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349997.1 2 7.525327 KEEP 28 3 100 60 1871 TT 1 1 0 - 6 25 186 0 0 10.742182 133 60 3907 310 ENST00000378115.2 0.043165 1 ARHGEF35 445328 __UNKNOWN__ __UNKNOWN__ 7 143902030 143902030 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:143902030G>C ENST00000543357.1 - 2 20 RP4-545C24.1_ENST00000493248.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-545C24.1_ENST00000480074.1_RNA|RP4-545C24.1_ENST00000474656.1_RNA|RP4-545C24.1_ENST00000498693.1_RNA|RP4-545C24.1_ENST00000464929.1_RNA A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 35 NA NA kidney(1)|large_intestine(1)|lung(3)|stomach(1) 6 ctcgctctgtggcccaggctg 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125680 CCDS34770.1 7q35 2012-07-24 2010-04-13 2010-04-13 ENSG00000213214 ENSG00000213214 445328 Rho guanine nucleotide exchange factors 33846 protein-coding gene gene with protein product Rho guanine nucleotide exchange factor (GEF) 5-like ARHGEF5L NA Standard NM_001003702 NM_001003702 NA Approved FLJ43692, CTAGE4 uc003wdz.2 A5YM69 OTTHUMG00000158010 ENST00000543357.1:c.12-16542C>G chr7.hg19:g.143902030G>C NA Q6ZUI2 hg19 CCDS34770.1 0.02 1.859373 TGTxGCC COVERED NOVEL ARHGEF35-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349997.1 14 3.611937 KEEP 15 0 0 12 439 GG 0.993634 0.957638 0 - 4 48 132 0 0 9.249817 41 51 1389 114 ENST00000543357.1 0.088889 0.963774 ARHGEF35 445328 __UNKNOWN__ __UNKNOWN__ 7 143979843 143979843 __UNKNOWN__ Intron SNP G G A rs200127275 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:143979843G>A ENST00000543357.1 - 1 20 OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 35 NA NA kidney(1)|large_intestine(1)|lung(3)|stomach(1) 6 TTGGAGCAGCGTCTTGAAAAG 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125680 CCDS34770.1 7q35 2012-07-24 2010-04-13 2010-04-13 ENSG00000213214 ENSG00000213214 445328 Rho guanine nucleotide exchange factors 33846 protein-coding gene gene with protein product Rho guanine nucleotide exchange factor (GEF) 5-like ARHGEF5L NA Standard NM_001003702 NM_001003702 NA Approved FLJ43692, CTAGE4 uc003wdz.2 A5YM69 OTTHUMG00000158010 ENST00000543357.1:c.11+11367C>T chr7.hg19:g.143979843G>A NA Q6ZUI2 hg19 CCDS34770.1 0.02 11.302087 AGCxTCT COVERED NOVEL ARHGEF35-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349997.1 11 11.429251 KEEP 181 18 546 230 7669 GG 1 1 0 - 69 50 1959 0 0 152.919834 286 51 9401 1021 ENST00000543357.1 0.194366 1 OR2A1-AS1 101928492 __UNKNOWN__ __UNKNOWN__ 7 144038537 144038537 __UNKNOWN__ RNA SNP T T C rs75583135 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:144038537T>C ENST00000463561.1 - 0 411 OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000462305.1_RNA OR2A1 antisense RNA 1 NA NA NA agccctggagtttgacagcag 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC040701 7q35 2013-09-20 ENSG00000244479 ENSG00000244479 101928492 Long non-coding RNAs 49168 non-coding RNA RNA, long non-coding NA Standard XR_242201 NA Approved OTTHUMG00000158050 ENST00000463561.1: chr7.hg19:g.144038537T>C NA hg19 0.02 -0.175408 GAGxTTG COVERED NOVEL OR2A1-AS1-007 KNOWN basic antisense NA antisense OTTHUMT00000350084.1 11 3.910252 KEEP 27 0 0 13 386 TT 0.99257 0.384528 0 - 3 27 103 0 0 8.13333 16 50 465 79 ENST00000463561.1 0.157895 0.387407 TPK1 27010 __UNKNOWN__ __UNKNOWN__ 7 144531133 144531133 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:144531133A>G ENST00000360057.3 - 2 146 TPK1_ENST00000378099.3_Intron NM_022445.3 NP_071890.2 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 NA NA small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829) ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788) large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) ccaggagtttaagaccagcct 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(45;88 1034 2073 5829 28455) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028138 CCDS5888.1, CCDS55178.1 7q34-q35 2008-07-18 ENSG00000196511 ENSG00000196511 27010 17358 protein-coding gene gene with protein product placental protein 20, thiamine pyrophosphokinase 1, thiamine kinase, thiamine diphosphokinase 606370 NA 11342111 Standard NM_022445 NM_022445 NA Approved HTPK1, PP20 uc003weq.3 Q9H3S4 OTTHUMG00000152774 ENST00000360057.3:c.43+1519T>C chr7.hg19:g.144531133A>G NA A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602 hg19 CCDS5888.1 0.02 -0.420766 TTTxAGA COVERED NOVEL TPK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327777.1 11 3.009248 KEEP 0 0 0 10 315 AA 0.992708 0.941486 0 - 6 60 207 0 0 15.892556 39 60 1066 83 ENST00000360057.3 0.133333 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 145071210 145071210 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:145071210A>G NA NA RN7SKP174 (524033 upstream) : AC006007.1 (301764 downstream) NA NA NA ggtggctcacacctgtaatcc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.145071210A>G NA hg19 0.02 -0.263097 CACxCCT COVERED NOVEL 0 8 2.706146 KEEP 1 0 0 9 253 AA 0.99254 0.688494 0 3 46 100 0 0 7.292536 25 60 727 58 0.107143 0.693668 CNTNAP2 26047 __UNKNOWN__ __UNKNOWN__ 7 147336221 147336221 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:147336221T>C ENST00000361727.3 + 13 2437 c.1921T>C c.(1921-1923)Tct>Cct p.S641P NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 641 Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}. NA adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625) axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076) enzyme binding (GO:0019899) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GACCATAGTGTCTCATGACTT 0.473 NA HNSCC(39;0.1) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 123 121 122 NA NA NA 7 NA NA 147336221 2203 4300 6503 SO:0001583 missense AF193613 CCDS5889.1 7q35 2008-02-04 ENSG00000174469 ENSG00000174469 26047 13830 protein-coding gene gene with protein product 604569 NA 10624965, 10048485 Standard NM_014141 NA Approved Caspr2, KIAA0868, NRXN4 uc003weu.2 Q9UHC6 OTTHUMG00000152743 ENST00000361727.3:c.1921T>C chr7.hg19:g.147336221T>C ENSP00000354778:p.Ser641Pro NA D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12 hg19 CCDS5889.1 0.02 -0.298126 GTGxCTC COVERED . . . . . . . . . . T 14.65 2.598835 0.46318 . . ENSG00000174469 ENST00000361727;ENST00000455301 T;T 0.20738 2.05;2.92 5.74 4.52 0.55395 Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2); 0.468375 0.23098 N 0.051960 T 0.12561 0.0305 N 0.12887 0.27 0.80722 D 1 B 0.16166 0.016 B 0.14023 0.01 T 0.07121 -1.0789 10 0.45353 T 0.12 . 11.7266 0.51712 0.1318:0.0:0.0:0.8682 . 641 Q9UHC6 CNTP2_HUMAN P 641;32 ENSP00000354778:S641P;ENSP00000392208:S32P ENSP00000354778:S641P S + 1 0 CNTNAP2 146967154 0.998000 0.40836 1.000000 0.80357 0.992000 0.81027 1.876000 0.39588 2.317000 0.78254 0.459000 0.35465 TCT NOVEL CNTNAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327668.1 0 9.021498 KEEP 0 0 0 30 864 TT 0.999997 0.781058 0 + 7 60 230 0 0 18.834781 27 60 741 74 ENST00000361727.3 0.205882 0.78106 CNTNAP2 26047 __UNKNOWN__ __UNKNOWN__ 7 148116748 148116748 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148116748G>C ENST00000361727.3 + 0 8552 CNTNAP2_ENST00000463592.2_3'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 NA NA adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625) axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076) enzyme binding (GO:0019899) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) gttggccagggtggtctcgaa 0.502 NA HNSCC(39;0.1) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF193613 CCDS5889.1 7q35 2008-02-04 ENSG00000174469 ENSG00000174469 26047 13830 protein-coding gene gene with protein product 604569 NA 10624965, 10048485 Standard NM_014141 NA Approved Caspr2, KIAA0868, NRXN4 uc003weu.2 Q9UHC6 OTTHUMG00000152743 ENST00000361727.3:c.*4040G>C chr7.hg19:g.148116748G>C NA D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12 hg19 CCDS5889.1 0.02 1.827206 AGGxTGG COVERED NOVEL CNTNAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327668.1 2 3.611396 KEEP 0 0 0 12 406 GG 0.993634 0.988091 0 + 4 60 134 0 0 8.814002 60 60 1915 92 ENST00000361727.3 0.0625 0.994422 C7orf33 202865 __UNKNOWN__ __UNKNOWN__ 7 148312289 148312289 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148312289T>C ENST00000307003.2 + 3 820 NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 NA NA central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) ccttggcctctcaaagtgctg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC021251 CCDS5890.1 7q36.1 2011-11-24 ENSG00000170279 ENSG00000170279 202865 21724 protein-coding gene gene with protein product NA Standard NM_145304 NM_145304 NA Approved uc003wew.3 Q8WU49 OTTHUMG00000152756 ENST00000307003.2:c.460-130T>C chr7.hg19:g.148312289T>C NA hg19 CCDS5890.1 0.02 1.879914 CTCxCAA COVERED NOVEL C7orf33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327684.1 10 4.814423 KEEP 2 0 0 16 500 TT 0.995343 0.979578 0 + 6 60 204 0 0 15.242997 45 60 1336 101 ENST00000307003.2 0.117647 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 148759861 148759861 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148759861T>C NA NA RNU6-650P (29602 upstream) : ZNF786 (6873 downstream) NA NA NA cgggtttcactatgttggcca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.148759861T>C NA hg19 0.02 -0.219205 CACxATG COVERED NOVEL 0 7 2.407256 KEEP 0 0 0 8 250 TT 0.99257 0.578599 0 3 60 94 0 0 6.906462 21 60 587 39 0.125 0.58293 ZNF786 136051 __UNKNOWN__ __UNKNOWN__ 7 148766816 148766816 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148766816G>A ENST00000316286.9 - 0 3062 Q8N393 ZN786_HUMAN zinc finger protein 786 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) cctgggctcaggcgatcctcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095701, AL834510 CCDS47738.1 7q36.1 2013-01-08 ENSG00000197362 ENSG00000197362 136051 Zinc fingers, C2H2-type, - 21806 protein-coding gene gene with protein product NA Standard NM_152411 NM_152411 NA Approved DKFZp762I137 uc003wfh.2 Q8N393 OTTHUMG00000158975 ENST00000316286.9:c.*699C>T chr7.hg19:g.148766816G>A NA A1A568|B4DMI1 hg19 0.02 1.131439 TCAxGCG COVERED NOVEL ZNF786-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000352752.1 13 6.320126 KEEP 0 0 0 21 730 GG 0.999869 0.999825 0 - 6 60 164 0 0 9.656307 86 60 2912 149 ENST00000316286.9 0.065217 0.999956 ZNF786 136051 __UNKNOWN__ __UNKNOWN__ 7 148767253 148767253 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148767253G>A ENST00000491431.1 - 0 2675 ZNF786_ENST00000316286.9_3'UTR|ZNF786_ENST00000451334.3_3'UTR NM_152411.3 NP_689624.2 Q8N393 ZN786_HUMAN zinc finger protein 786 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) AATATagctgggatcacgcca 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095701, AL834510 CCDS47738.1 7q36.1 2013-01-08 ENSG00000197362 ENSG00000197362 136051 Zinc fingers, C2H2-type, - 21806 protein-coding gene gene with protein product NA Standard NM_152411 NM_152411 NA Approved DKFZp762I137 uc003wfh.2 Q8N393 OTTHUMG00000158975 ENST00000491431.1:c.*262C>T chr7.hg19:g.148767253G>A NA A1A568|B4DMI1 hg19 CCDS47738.1 0.02 1.304492 CTGxGAT COVERED NOVEL ZNF786-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352751.1 8 3.611228 KEEP 0 0 0 12 400 GG 0.993634 0.98989 0 - 4 60 122 0 0 7.673711 58 60 1865 100 ENST00000491431.1 0.064516 0.996233 ZNF786 136051 __UNKNOWN__ __UNKNOWN__ 7 148778263 148778263 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148778263G>C ENST00000491431.1 - 2 83 ZNF786_ENST00000316286.9_Intron|ZNF786_ENST00000451334.3_Intron NM_152411.3 NP_689624.2 Q8N393 ZN786_HUMAN zinc finger protein 786 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ggcgcagtgggtcatgcctgt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095701, AL834510 CCDS47738.1 7q36.1 2013-01-08 ENSG00000197362 ENSG00000197362 136051 Zinc fingers, C2H2-type, - 21806 protein-coding gene gene with protein product NA Standard NM_152411 NM_152411 NA Approved DKFZp762I137 uc003wfh.2 Q8N393 OTTHUMG00000158975 ENST00000491431.1:c.19-454C>G chr7.hg19:g.148778263G>C NA A1A568|B4DMI1 hg19 CCDS47738.1 0.02 4.158348 TGGxTCA COVERED NOVEL ZNF786-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352751.1 12 5.956263 KEEP 0 1 38 33 1175 GG 0.999998 0.999995 0 - 8 60 280 0 0 19.538037 97 60 3285 220 ENST00000491431.1 0.07619 0.999997 ZNF786 136051 __UNKNOWN__ __UNKNOWN__ 7 148778330 148778330 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148778330T>C ENST00000491431.1 - 2 83 ZNF786_ENST00000316286.9_Intron|ZNF786_ENST00000451334.3_Intron NM_152411.3 NP_689624.2 Q8N393 ZN786_HUMAN zinc finger protein 786 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) gagttcgagatcagcctgacc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095701, AL834510 CCDS47738.1 7q36.1 2013-01-08 ENSG00000197362 ENSG00000197362 136051 Zinc fingers, C2H2-type, - 21806 protein-coding gene gene with protein product NA Standard NM_152411 NM_152411 NA Approved DKFZp762I137 uc003wfh.2 Q8N393 OTTHUMG00000158975 ENST00000491431.1:c.19-521A>G chr7.hg19:g.148778330T>C NA A1A568|B4DMI1 hg19 CCDS47738.1 0.02 1.880027 AGAxCAG COVERED NOVEL ZNF786-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352751.1 6 3.009489 KEEP 0 0 0 10 330 TT 0.992708 0.978962 0 - 4 55 132 0 0 8.887165 51 60 1530 76 ENST00000491431.1 0.072727 0.986153 ZNF786 136051 __UNKNOWN__ __UNKNOWN__ 7 148783455 148783455 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148783455T>C ENST00000491431.1 - 1 83 ZNF786_ENST00000316286.9_Intron|ZNF786_ENST00000451334.3_Intron NM_152411.3 NP_689624.2 Q8N393 ZN786_HUMAN zinc finger protein 786 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) cacggtggcttacacctgtaa 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095701, AL834510 CCDS47738.1 7q36.1 2013-01-08 ENSG00000197362 ENSG00000197362 136051 Zinc fingers, C2H2-type, - 21806 protein-coding gene gene with protein product NA Standard NM_152411 NM_152411 NA Approved DKFZp762I137 uc003wfh.2 Q8N393 OTTHUMG00000158975 ENST00000491431.1:c.18+4259A>G chr7.hg19:g.148783455T>C NA A1A568|B4DMI1 hg19 CCDS47738.1 0.02 -0.263068 GCTxACA COVERED NOVEL ZNF786-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352751.1 10 2.707413 KEEP 0 0 0 9 268 TT 0.99254 0.688494 0 - 3 60 96 0 0 6.845071 26 60 731 54 ENST00000491431.1 0.103448 0.693668 ZNF786 136051 __UNKNOWN__ __UNKNOWN__ 7 148783458 148783458 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148783458A>G ENST00000491431.1 - 1 83 ZNF786_ENST00000316286.9_Intron|ZNF786_ENST00000451334.3_Intron NM_152411.3 NP_689624.2 Q8N393 ZN786_HUMAN zinc finger protein 786 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ggtggcttacacctgtaatcc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095701, AL834510 CCDS47738.1 7q36.1 2013-01-08 ENSG00000197362 ENSG00000197362 136051 Zinc fingers, C2H2-type, - 21806 protein-coding gene gene with protein product NA Standard NM_152411 NM_152411 NA Approved DKFZp762I137 uc003wfh.2 Q8N393 OTTHUMG00000158975 ENST00000491431.1:c.18+4256T>C chr7.hg19:g.148783458A>G NA A1A568|B4DMI1 hg19 CCDS47738.1 0.02 -0.25416 TACxCCT COVERED NOVEL ZNF786-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352751.1 9 2.407263 KEEP 0 0 0 8 250 AA 0.99257 0.663556 0 - 3 60 94 0 0 6.74437 24 60 666 54 ENST00000491431.1 0.111111 0.668523 ZNF425 155054 __UNKNOWN__ __UNKNOWN__ 7 148800535 148800535 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148800535T>C ENST00000378061.2 - 0 2560 NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) gtctcaaacttctgggctcaa 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056498 CCDS34773.1 7q36.1 2013-01-08 ENSG00000204947 ENSG00000204947 155054 Zinc fingers, C2H2-type, - 20690 protein-coding gene gene with protein product NA Standard XM_088140 NM_001001661 NA Approved uc003wfj.3 Q6IV72 OTTHUMG00000158971 ENST00000378061.2:c.*169A>G chr7.hg19:g.148800535T>C NA B3KPM1|Q08AG3 hg19 CCDS34773.1 0.02 7.48259 ACTxCTG COVERED NOVEL ZNF425-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352726.1 19 20.485753 KEEP 1 1 28 78 2290 TT 1 1 0 - 10 60 308 1 0 18.170228 199 60 5588 379 ENST00000378061.2 0.047847 1 ZNF425 155054 __UNKNOWN__ __UNKNOWN__ 7 148809463 148809463 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:148809463C>T ENST00000378061.2 - 3 278 ZNF425_ENST00000484196.1_5'UTR NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) tggtggctcacgcctgtaatc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056498 CCDS34773.1 7q36.1 2013-01-08 ENSG00000204947 ENSG00000204947 155054 Zinc fingers, C2H2-type, - 20690 protein-coding gene gene with protein product NA Standard XM_088140 NM_001001661 NA Approved uc003wfj.3 Q6IV72 OTTHUMG00000158971 ENST00000378061.2:c.146-76G>A chr7.hg19:g.148809463C>T NA B3KPM1|Q08AG3 hg19 CCDS34773.1 0.02 4.365847 TCAxGCC COVERED NOVEL ZNF425-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352726.1 19 13.675019 KEEP 2 1 33 57 1854 CC 1 1 0 - 7 60 211 1 1 12.052688 149 60 4735 308 ENST00000378061.2 0.044872 1 ZNF767 0 __UNKNOWN__ __UNKNOWN__ 7 149256027 149256027 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:149256027T>C ENST00000463567.1 - 0 600 NR_027788.1 Q75MW2 ZN767_HUMAN NA NA central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) Tggtggctcatgcctataatc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000463567.1: chr7.hg19:g.149256027T>C NA D3DWG6|Q86WY4|Q9H9J3 hg19 0.02 3.800962 TCAxGCC COVERED NOVEL ZNF767-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352753.2 6 8.425042 KEEP 0 0 0 28 863 TT 0.999997 0.999965 0 - 5 70 164 0 0 10.334218 88 60 2551 170 ENST00000463567.1 0.053763 0.999968 ZNF767 0 __UNKNOWN__ __UNKNOWN__ 7 149256032 149256032 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:149256032A>G ENST00000463567.1 - 0 600 NR_027788.1 Q75MW2 ZN767_HUMAN NA NA central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) gctcatgcctataatcccagc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000463567.1: chr7.hg19:g.149256032A>G NA D3DWG6|Q86WY4|Q9H9J3 hg19 0.02 1.643373 CCTxTAA COVERED NOVEL ZNF767-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352753.2 5 7.518651 KEEP 0 0 0 25 713 AA 0.999931 0.999553 0 - 7 70 235 0 0 16.658554 70 60 1895 147 ENST00000463567.1 0.090909 0.999622 ZNF767 0 __UNKNOWN__ __UNKNOWN__ 7 149290192 149290192 __UNKNOWN__ RNA SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:149290192T>A ENST00000463567.1 - 0 600 NR_027788.1 Q75MW2 ZN767_HUMAN NA NA central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) gcactttgggtggccgaggcg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000463567.1: chr7.hg19:g.149290192T>A NA D3DWG6|Q86WY4|Q9H9J3 hg19 0.02 -0.192695 GGGxGGC COVERED NOVEL ZNF767-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352753.2 4 2.407543 KEEP 0 0 0 8 259 TT 0.99257 0.454356 0 - 3 60 90 0 0 6.629711 19 60 537 39 ENST00000463567.1 0.136364 0.457757 ZNF767 0 __UNKNOWN__ __UNKNOWN__ 7 149304908 149304908 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:149304908T>C ENST00000463567.1 - 0 600 NR_027788.1 Q75MW2 ZN767_HUMAN NA NA central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) ttttctgttcttgtgttagtt 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000463567.1: chr7.hg19:g.149304908T>C NA D3DWG6|Q86WY4|Q9H9J3 hg19 0.02 2.131909 TTCxTGT COVERED NOVEL ZNF767-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000352753.2 7 3.009089 KEEP 0 0 0 10 319 TT 0.992708 0.96037 0 - 4 60 137 0 1 9.670089 43 60 1273 81 ENST00000463567.1 0.085106 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 150447027 150447027 __UNKNOWN__ IGR SNP T T G rs28505524 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:150447027T>G NA NA GIMAP5 (5876 upstream) : TMEM176B (41345 downstream) NA NA NA CTGTAATGGATTCACAATTTG 0.348 NA T||| 810 0.161741 0.1528 0.1297 5008 , , NA 19381 0.2629 NA 0.1392 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 T GLU/ASP 216,1168 14,188,490 148 118 127 NA 204 0 0.1 7 dbSNP_125 127 455,2727 35,385,1171 yes missense LOC100128542 NM_001162367.1 45 49,573,1661 GG,GT,TT NA 14.2992,15.6069,14.6956 68/162 150447027 671,3895 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.150447027T>G NA hg19 0.02 -0.297617 GGAxTCA COVERED NOVEL 0 1 5.115529 KEEP 0 0 0 17 542 TT 0.999366 0.780565 0 3 60 95 0 0 6.571275 30 60 857 62 0.090909 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 150480088 150480088 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:150480088T>C NA NA GIMAP5 (38937 upstream) : TMEM176B (8284 downstream) NA NA NA gagtttgagatcagcctggcc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.150480088T>C NA hg19 0.02 -0.140336 AGAxCAG COVERED NOVEL 0 5 3.009192 KEEP 2 0 0 10 317 TT 0.99254 0.289823 0 4 43 133 0 0 11.72392 9 60 276 33 0.307692 0.292001 NOS3 4846 __UNKNOWN__ __UNKNOWN__ 7 150700395 150700395 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:150700395A>G ENST00000484524.1 + 0 1909 NOS3_ENST00000467517.1_Intron|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Intron NM_001160111.1 NP_001153583.1 P60323 NANO3_HUMAN nitric oxide synthase 3 (endothelial cell) NA NA germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723)|zinc ion binding (GO:0008270) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) tgtattttttatagagatggg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5912.1, CCDS55182.1, CCDS55183.1 7q36 2007-02-15 ENSG00000164867 ENSG00000164867 4846 1.14.13.39 7876 protein-coding gene gene with protein product endothelial nitric oxide synthase 163729 NA 1379542 Standard NM_000603 NM_000603 NA Approved ECNOS, eNOS uc003wif.3 P29474 OTTHUMG00000158343 ENST00000484524.1:c.*19A>G chr7.hg19:g.150700395A>G NA Q495E5 hg19 CCDS55182.1 0.02 1.827504 TTTxTAG COVERED NOVEL NOS3-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000351550.1 11 12.633819 KEEP 1 0 0 42 1237 AA 1 0.993703 0 + 4 60 127 1 1 8.355972 52 60 1405 116 ENST00000484524.1 0.071429 0.993703 ABCF2 10061 __UNKNOWN__ __UNKNOWN__ 7 150910060 150910060 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:150910060A>G ENST00000287844.2 - 0 3061 ABCF2_ENST00000222388.2_Intron NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 NA NA transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) atgtttcccaagctggtcttg 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ005016 CCDS5922.1, CCDS5923.1 7q36.1 2012-03-14 ENSG00000033050 ENSG00000033050 10061 ATP binding cassette transporters / subfamily F 71 protein-coding gene gene with protein product 612510 NA 8894702 Standard NM_005692 NM_007189 NA Approved EST133090, ABC28, M-ABC1, HUSSY-18 uc003wjo.1 Q9UG63 OTTHUMG00000154570 ENST00000287844.2:c.*1080T>C chr7.hg19:g.150910060A>G NA O60864|Q75MJ0|Q75MJ1|Q96TE8 hg19 CCDS5923.1 0.02 5.973928 CCAxGCT COVERED NOVEL ABCF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336086.1 25 14.955237 KEEP 0 1 38 63 1941 AA 1 1 0 - 7 60 236 1 0 14.583038 147 60 4353 313 ENST00000287844.2 0.045455 1 ABCF2 10061 __UNKNOWN__ __UNKNOWN__ 7 150910114 150910114 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:150910114C>T ENST00000287844.2 - 0 3007 ABCF2_ENST00000222388.2_Intron NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 NA NA transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) cctcccaaagcgctgggatta 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ005016 CCDS5922.1, CCDS5923.1 7q36.1 2012-03-14 ENSG00000033050 ENSG00000033050 10061 ATP binding cassette transporters / subfamily F 71 protein-coding gene gene with protein product 612510 NA 8894702 Standard NM_005692 NM_007189 NA Approved EST133090, ABC28, M-ABC1, HUSSY-18 uc003wjo.1 Q9UG63 OTTHUMG00000154570 ENST00000287844.2:c.*1026G>A chr7.hg19:g.150910114C>T NA O60864|Q75MJ0|Q75MJ1|Q96TE8 hg19 CCDS5923.1 0.02 1.29215 AAGxGCT COVERED NOVEL ABCF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336086.1 6 8.545562 KEEP 1 1 24 37 1164 CC 1 0.999862 0 - 8 60 220 0 0 14.585335 71 60 2200 146 ENST00000287844.2 0.101266 0.999862 RHEB 6009 __UNKNOWN__ __UNKNOWN__ 7 151197157 151197157 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151197157A>G ENST00000262187.5 - 2 465 RHEB_ENST00000472642.1_Intron|RHEB_ENST00000496004.1_Intron NM_005614.3 NP_005605.1 Q15382 RHEB_HUMAN Ras homolog enriched in brain NA NA cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872) breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7) 14 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) caaagtgctgagattatgggt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(98;671 892 8111 15140 36556 39178 39939 44184) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D78132 CCDS5927.1 7q36 2014-05-09 2003-07-14 2003-07-14 ENSG00000106615 ENSG00000106615 6009 10011 protein-coding gene gene with protein product 601293 Ras homolog enriched in brain 2 RHEB2 NA 8661031 Standard NM_005614 NM_005614 NA Approved uc003wkh.1 Q15382 OTTHUMG00000157330 ENST00000262187.5:c.53-9057T>C chr7.hg19:g.151197157A>G NA B3KWN6|D3DX13|Q53Y56|Q99444 hg19 CCDS5927.1 0.02 -0.280647 CTGxGAT COVERED NOVEL RHEB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348468.2 8 2.707942 KEEP 0 0 0 9 288 AA 0.99254 0.734154 0 - 3 60 104 0 0 7.643951 26 60 769 58 ENST00000262187.5 0.103448 0.739671 PRKAG2 51422 __UNKNOWN__ __UNKNOWN__ 7 151433069 151433069 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151433069A>G ENST00000287878.4 - 3 971 PRKAG2_ENST00000392801.2_Intron|PRKAG2_ENST00000492843.1_Missense_Mutation_p.F4S|PRKAG2_ENST00000433631.2_Missense_Mutation_p.F4S|PRKAG2_ENST00000461529.1_Intron NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit NA NA ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126) AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654) ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) Acetylsalicylic acid(DB00945) GAGGCTCCCAAAGCGCTTCAT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF087875 CCDS5928.1, CCDS43683.1, CCDS47752.1 7q35-q36 2014-09-17 ENSG00000106617 ENSG00000106617 51422 9386 protein-coding gene gene with protein product AMPK gamma2 602743 NA 8557660, 8621499 Standard NM_016203 NM_024429 NA Approved AAKG, AAKG2, H91620p, WPWS, CMH6 uc003wkk.3 Q9UGJ0 OTTHUMG00000157324 ENST00000287878.4:c.466+45168T>C chr7.hg19:g.151433069A>G NA Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8 hg19 CCDS5928.1 0.02 10.47627 CCAxAGC COVERED . . . . . . . . . . A 15.47 2.842086 0.51057 . . ENSG00000106617 ENST00000492843;ENST00000433631 D;D 0.88124 -2.34;-2.33 5.12 5.12 0.69794 . . . . . D 0.92489 0.7615 . . . 0.30762 N 0.743941 D 0.54601 0.967 D 0.65874 0.939 D 0.91150 0.4952 8 0.59425 D 0.04 . 14.1435 0.65334 1.0:0.0:0.0:0.0 . 4 B7Z6X8 . S 4 ENSP00000419577:F4S;ENSP00000406544:F4S ENSP00000406544:F4S F - 2 0 PRKAG2 151064002 1.000000 0.71417 1.000000 0.80357 0.601000 0.36947 6.865000 0.75500 1.944000 0.56390 0.379000 0.24179 TTT NOVEL PRKAG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348440.2 0 110.420795 KEEP 0 1 31 378 11783 AA 1 1 0 - 97 60 3214 0 0 289.051233 184 60 5274 892 ENST00000287878.4 0.345196 1 PRKAG2 51422 __UNKNOWN__ __UNKNOWN__ 7 151504009 151504009 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151504009A>G ENST00000287878.4 - 2 619 PRKAG2_ENST00000392801.2_Intron|RP13-452N2.1_ENST00000462083.2_RNA NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit NA NA ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126) AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654) ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) Acetylsalicylic acid(DB00945) ccaagatcgcaccattgcact 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF087875 CCDS5928.1, CCDS43683.1, CCDS47752.1 7q35-q36 2014-09-17 ENSG00000106617 ENSG00000106617 51422 9386 protein-coding gene gene with protein product AMPK gamma2 602743 NA 8557660, 8621499 Standard NM_016203 NM_024429 NA Approved AAKG, AAKG2, H91620p, WPWS, CMH6 uc003wkk.3 Q9UGJ0 OTTHUMG00000157324 ENST00000287878.4:c.115-20382T>C chr7.hg19:g.151504009A>G NA Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8 hg19 CCDS5928.1 0.02 1.853666 CGCxCCA COVERED NOVEL PRKAG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348440.2 9 4.513626 KEEP 0 0 0 15 466 AA 0.99649 0.988612 0 - 4 60 132 0 0 8.854592 52 60 1535 99 ENST00000287878.4 0.071429 0.992094 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962257 151962257 __UNKNOWN__ Silent SNP C C T rs62478357 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151962257C>T ENST00000262189.6 - 8 1268 c.1050G>A c.(1048-1050)ccG>ccA p.P350P KMT2C_ENST00000355193.2_Silent_p.P350P NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 350 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA AGAGGTCTCCCGGGCTGTCGC 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 146 134 138 NA NA NA 7 NA NA 151962257 2203 4296 6499 SO:0001819 synonymous_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1050G>A chr7.hg19:g.151962257C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 7.411796 TCCxGGG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 22 25.945401 KEEP 89 19 577 289 9705 CC 1 1 0 - 15 50 454 0 0 26.980037 274 52 8855 966 ENST00000262189.6 0.051903 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962265 151962265 __UNKNOWN__ Missense_Mutation SNP C C T rs201834857 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151962265C>T ENST00000262189.6 - 8 1260 c.1042G>A c.(1042-1044)Gac>Aac p.D348N KMT2C_ENST00000355193.2_Missense_Mutation_p.D348N NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 348 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) p.D348N(2) NA CCCGGGCTGTCGCACACTGCA 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) skin(2) 112 101 104 NA NA NA 7 NA NA 151962265 2203 4296 6499 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1042G>A chr7.hg19:g.151962265C>T ENSP00000262189:p.Asp348Asn NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 7.433268 TGTxGCA COVERED . . . . . . . . . . C 15.09 2.730606 0.48939 . . ENSG00000055609 ENST00000262189;ENST00000355193 D;D 0.98807 -5.15;-5.15 4.65 4.65 0.58169 Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1); 0.000000 0.43919 U 0.000512 D 0.98516 0.9505 L 0.47716 1.5 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 D 0.98479 1.0604 10 0.23302 T 0.38 . 17.9157 0.88950 0.0:1.0:0.0:0.0 . 348 Q8NEZ4 MLL3_HUMAN N 348 ENSP00000262189:D348N;ENSP00000347325:D348N ENSP00000262189:D348N D - 1 0 MLL3 151593198 1.000000 0.71417 1.000000 0.80357 0.048000 0.14542 7.772000 0.85439 2.271000 0.75665 0.557000 0.71058 GAC NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 21 36.842197 KEEP 102 14 446 279 9178 CC 1 1 0 - 12 49 368 0 0 21.354465 252 60 7965 888 ENST00000262189.6 0.045455 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970705 151970705 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151970705A>C ENST00000262189.6 - 7 1231 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA ATACAAGTAGAATAACACTCA 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1012+84T>G chr7.hg19:g.151970705A>C NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.271888 TAGxATA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 1 5.752379 KEEP 4 1 34 31 993 AA 0.999997 0.717313 0 - 3 60 97 0 0 6.898688 27 60 807 66 ENST00000262189.6 0.1 0.717315 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970758 151970758 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151970758G>A ENST00000262189.6 - 7 1231 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA TACATTGGTTGAAGTTTAAAA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 206 191 196 NA NA NA 7 NA NA 151970758 2203 4300 6503 SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1012+31C>T chr7.hg19:g.151970758G>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 2.405415 GTTxAAG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 5 19.603032 KEEP 15 4 122 108 3853 GG 1 1 0 - 7 60 196 0 0 10.856219 135 60 4381 296 ENST00000262189.6 0.049296 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970777 151970777 __UNKNOWN__ Intron SNP G G A rs201753635 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151970777G>A ENST00000262189.6 - 7 1231 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA AAGTCTATCCGTAGTAAACTT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G 10,4396 8.1+/-20.4 0,10,2193 231 208 216 NA -4.4 0 7 216 211,8389 60.2+/-122.0 0,211,4089 no intron MLL3 NM_170606.2 0,221,6282 AA,AG,GG NA 2.4535,0.227,1.6992 151970777 221,12785 2203 4300 6503 SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1012+12C>T chr7.hg19:g.151970777G>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 5.989405 TCCxTAG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 7 13.109272 KEEP 18 10 308 152 4761 GG 1 1 0 - 10 60 302 0 0 17.539582 200 60 6048 454 ENST00000262189.6 0.047619 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970982 151970982 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151970982T>C ENST00000262189.6 - 7 1068 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GAAATCTCTTTATAAAACCTT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 38 38 38 NA NA NA 7 NA NA 151970982 2197 4294 6491 SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.850-30A>G chr7.hg19:g.151970982T>C NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.438394 CTTxATA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 5 2.971333 KEEP 50 5 172 70 2152 TT 1 0.959859 0 - 5 49 162 0 0 11.532191 45 60 1261 159 ENST00000262189.6 0.1 0.959859 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151971006 151971006 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151971006C>T ENST00000262189.6 - 7 1068 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA AAGGAATATTCAAATATAAGC 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.850-54G>A chr7.hg19:g.151971006C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.333281 ATTxAAA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 3 10.962613 KEEP 24 1 33 48 1634 CC 0.999999 0.851983 0 - 6 44 166 0 0 12.269925 32 60 1046 99 ENST00000262189.6 0.157895 0.851984 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151971015 151971015 __UNKNOWN__ Intron SNP G G A rs111585502 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151971015G>A ENST00000262189.6 - 7 1068 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA TCAAATATAAGCTGGGAAGGT 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.850-63C>T chr7.hg19:g.151971015G>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.314783 TAAxCTG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 3 8.560963 KEEP 9 1 24 37 1286 GG 0.999998 0.818463 0 - 4 49 106 0 0 7.068129 32 60 1029 78 ENST00000262189.6 0.111111 0.818465 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151975606 151975606 __UNKNOWN__ Intron SNP C C T rs184329789 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:151975606C>T ENST00000262189.6 - 7 1068 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA tctgcagaatcgtgagccaat 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.850-4654G>A chr7.hg19:g.151975606C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.219218 AATxGTG UNCOVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 10 2.407553 KEEP 19 0 0 8 265 CC 0 0 0 - 4 48 117 0 0 9.169839 17 60 490 60 ENST00000262189.6 0.190476 0.552887 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152027648 152027648 __UNKNOWN__ Intron SNP G G C rs201064397 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:152027648G>C ENST00000262189.6 - 3 608 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA CTTTATTCCTGTCACTAATAT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G 0,4406 0,0,2203 108 107 108 NA -3.6 0 7 108 7,8593 5.7+/-21.5 0,7,4293 no intron MLL3 NM_170606.2 0,7,6496 CC,CG,GG NA 0.0814,0.0,0.0538 152027648 7,12999 2203 4300 6503 SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.389+37C>G chr7.hg19:g.152027648G>C NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.412307 CCTxTCA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 2 7.524132 KEEP 0 0 0 25 876 GG 0.999931 0.941676 0 - 3 60 103 0 0 6.888333 44 60 1483 98 ENST00000262189.6 0.06383 0.941741 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152064259 152064259 __UNKNOWN__ Intron SNP G G A rs77987959 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:152064259G>A ENST00000262189.6 - 2 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA TCCAAGGATGGTCTCCCACTC 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.162-8499C>T chr7.hg19:g.152064259G>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.429844 ATGxTCT COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 7 2.708834 KEEP 1 0 0 9 317 GG 0.99254 0.947371 0 - 9 49 271 0 0 21.336616 39 60 1335 90 ENST00000262189.6 0.1875 0.954491 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152064303 152064303 __UNKNOWN__ Intron SNP A A T rs200947256 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:152064303A>T ENST00000262189.6 - 2 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA CAGCAGATGCAGTGTGTTTTG 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.162-8543T>A chr7.hg19:g.152064303A>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.350828 TGCxGTG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 7 2.406933 KEEP 0 0 0 8 242 AA 0.99257 0.871187 0 - 9 49 282 0 0 23.234077 31 60 939 74 ENST00000262189.6 0.225 0.877708 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152098745 152098745 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:152098745A>C ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA cactgcactcaagcctgggca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+33965T>G chr7.hg19:g.152098745A>C NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.263105 CTCxAGC COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 16 3.297809 KEEP 16 0 0 11 326 AA 0.992708 0.68861 0 - 3 60 103 0 0 7.694652 23 60 667 84 ENST00000262189.6 0.115385 0.693668 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152103696 152103696 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:152103696A>G ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA ttgaactcctaggctcaagtg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+29014T>C chr7.hg19:g.152103696A>G NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.38584 CCTxGGC COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 13 3.309932 KEEP 2 0 0 11 341 AA 0.993072 0.91181 0 - 3 60 95 1 0 7.261577 17 60 472 78 ENST00000262189.6 0.15 0.918171 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152111981 152111981 __UNKNOWN__ Intron SNP T T A rs2770502 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:152111981T>A ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA gctaccaggctagagtgcagt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+20729A>T chr7.hg19:g.152111981T>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.385839 GGCxAGA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 14 2.70584 KEEP 1 0 0 9 261 TT 0.99254 0.911321 0 - 4 60 111 0 0 8.093418 23 60 664 67 ENST00000262189.6 0.148148 0.918171 XRCC2 7516 __UNKNOWN__ __UNKNOWN__ 7 152344295 152344295 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:152344295A>G ENST00000359321.1 - 0 2360 XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 NA NA centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) cttcttttgaaaagtgtctgt 0.373 NA Homologous recombination NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y08837 CCDS5933.1 7q36 2006-05-04 ENSG00000196584 ENSG00000196584 7516 12829 protein-coding gene gene with protein product RAD51-like 600375 NA 7607692, 10422536 Standard NM_005431 NM_005431 NA Approved uc003wld.3 O43543 OTTHUMG00000151470 ENST00000359321.1:c.*1432T>C chr7.hg19:g.152344295A>G NA B2R925 hg19 CCDS5933.1 0.02 5.607805 TGAxAAG COVERED NOVEL XRCC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322783.1 16 21.17878 KEEP 0 1 33 82 2521 AA 1 1 0 - 8 60 253 0 0 15.594884 141 60 3992 287 ENST00000359321.1 0.053691 1 XRCC2 7516 __UNKNOWN__ __UNKNOWN__ 7 152345649 152345649 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:152345649A>T ENST00000359321.1 - 0 1006 XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 NA NA centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) ccagcctgggagacagagcaa 0.458 NA Homologous recombination NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y08837 CCDS5933.1 7q36 2006-05-04 ENSG00000196584 ENSG00000196584 7516 12829 protein-coding gene gene with protein product RAD51-like 600375 NA 7607692, 10422536 Standard NM_005431 NM_005431 NA Approved uc003wld.3 O43543 OTTHUMG00000151470 ENST00000359321.1:c.*78T>A chr7.hg19:g.152345649A>T NA B2R925 hg19 CCDS5933.1 0.02 2.5217 GGGxGAC COVERED NOVEL XRCC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322783.1 19 20.39501 KEEP 0 1 32 79 2536 AA 1 1 0 - 6 60 172 1 1 9.549092 123 60 3717 330 ENST00000359321.1 0.046512 1 HTR5A-AS1 0 __UNKNOWN__ __UNKNOWN__ 7 154859397 154859397 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:154859397A>G ENST00000395731.2 - 0 2082 NA NA NA tccagcctggatgacagagtg 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000395731.2:c.*1529T>C chr7.hg19:g.154859397A>G NA hg19 0.02 1.599172 TGGxTGA COVERED NOVEL HTR5A-AS1-001 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000322238.1 16 2.407571 KEEP 0 0 0 8 261 AA 0.99257 0.992407 0 - 6 60 193 2 1 13.125359 68 60 2075 142 ENST00000395731.2 0.081081 0.999835 AC008060.7 0 __UNKNOWN__ __UNKNOWN__ 7 155188967 155188967 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:155188967C>T ENST00000401499.1 + 0 1467 NA NA NA atcccagtaccttgggaggcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000401499.1:c.*1098C>T chr7.hg19:g.155188967C>T NA hg19 0.02 4.137747 TACxTTG COVERED NOVEL AC008060.7-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000322332.1 46 14.386735 KEEP 0 4 126 92 3255 CC 1 1 0 + 11 70 296 1 0 17.085465 163 60 5557 393 ENST00000401499.1 0.063218 1 LMBR1 64327 __UNKNOWN__ __UNKNOWN__ 7 156529345 156529345 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:156529345C>A ENST00000353442.5 - 10 994 LMBR1_ENST00000359422.4_Intron|LMBR1_ENST00000354505.4_Intron|LMBR1_ENST00000540390.1_Intron NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 NA NA embryonic digit morphogenesis (GO:0042733) integral component of membrane (GO:0016021) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) CTGAGCcacacacctcttcac 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF107454 CCDS5945.1 7q36.3 2013-08-05 2013-08-05 2005-07-25 ENSG00000105983 ENSG00000105983 64327 13243 protein-coding gene gene with protein product 605522 chromosome 7 open reading frame 2, limb region 1 homolog (mouse) C7orf2 NA 10329000, 11090342 Standard NM_022458 NM_022458 NA Approved ACHP, FLJ11665, ZRS uc003wmw.4 Q8WVP7 OTTHUMG00000151510 ENST00000353442.5:c.758-2394G>T chr7.hg19:g.156529345C>A NA A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2 hg19 CCDS5945.1 0.02 -0.342013 ACAxACC COVERED NOVEL LMBR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347939.3 2 8.257713 KEEP 0 1 27 37 1243 CC 1 0.865745 0 - 13 60 350 0 0 30.418132 26 60 841 91 ENST00000353442.5 0.333333 0.865745 UBE3C 9690 __UNKNOWN__ __UNKNOWN__ 7 156989635 156989635 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:156989635G>C ENST00000348165.5 + 11 1691 NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C NA NA protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) tgcactccaggctgggcaaca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK127280 CCDS34789.1 7q36.3 2004-05-04 ENSG00000009335 ENSG00000009335 9690 16803 protein-coding gene gene with protein product 614454 NA 7584026, 11278995 Standard NM_014671 NM_014671 NA Approved KIAA0010, KIAA10 uc010lqs.3 Q15386 OTTHUMG00000157239 ENST00000348165.5:c.1332-4780G>C chr7.hg19:g.156989635G>C NA A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3 hg19 CCDS34789.1 0.02 1.970695 CAGxCTG COVERED NOVEL UBE3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348108.1 5 4.846593 KEEP 1 1 34 28 948 GG 0.999997 0.98794 0 + 4 60 131 0 0 8.922772 47 60 1555 111 ENST00000348165.5 0.078431 0.987943 UBE3C 9690 __UNKNOWN__ __UNKNOWN__ 7 157010877 157010877 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:157010877T>C ENST00000348165.5 + 14 2274 NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C NA NA protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) cggtggctcatgcctgtaatc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK127280 CCDS34789.1 7q36.3 2004-05-04 ENSG00000009335 ENSG00000009335 9690 16803 protein-coding gene gene with protein product 614454 NA 7584026, 11278995 Standard NM_014671 NM_014671 NA Approved KIAA0010, KIAA10 uc010lqs.3 Q15386 OTTHUMG00000157239 ENST00000348165.5:c.1914+1212T>C chr7.hg19:g.157010877T>C NA A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3 hg19 CCDS34789.1 0.02 -0.20151 TCAxGCC COVERED NOVEL UBE3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348108.1 4 2.407092 KEEP 0 0 0 8 253 TT 0.99257 0.4869 0 + 3 60 100 0 0 7.628621 19 60 524 44 ENST00000348165.5 0.136364 0.490544 DNAJB6 10049 __UNKNOWN__ __UNKNOWN__ 7 157196304 157196304 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr7:157196304C>T ENST00000262177.4 + 9 896 DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Intron NM_058246.3 NP_490647.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 NA NA intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082) central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) tagctgggaccacaggtgtgc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(46;195 967 1350 20350 43814) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014888 CCDS5946.1, CCDS47755.1 7q36.3 2014-02-03 ENSG00000105993 ENSG00000105993 10049 Heat shock proteins / DNAJ (HSP40) 14888 protein-coding gene gene with protein product 611332 limb girdle muscular dystrophy 1D (autosomal dominant) LGMD1D NA 10319584, 9915854, 22366786 Standard NM_005494 NA Approved MRJ uc003wnk.3 O75190 OTTHUMG00000157242 ENST00000262177.4:c.692-6185C>T chr7.hg19:g.157196304C>T NA A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6 hg19 CCDS5946.1 0.02 -0.114029 GACxACA UNCOVERED NOVEL DNAJB6-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000348119.2 1 2.708477 KEEP 0 0 0 9 301 CC 0.99254 0.161255 0 + 4 60 121 1 0 10.523669 9 60 290 28 ENST00000262177.4 0.307692 0.162467 ERICH1 157697 __UNKNOWN__ __UNKNOWN__ 8 609453 609453 __UNKNOWN__ Intron SNP G G A rs201822125 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:609453G>A ENST00000522706.1 - 3 1012 Q86X53 ERIC1_HUMAN glutamate-rich 1 NA NA endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) CGAGATCTCCGGTGTGCACTG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5955.1 8p23.3 2005-09-01 ENSG00000104714 ENSG00000104714 157697 27234 protein-coding gene gene with protein product NA Standard NM_207332 NM_207332 NA Approved uc003wph.3 Q86X53 OTTHUMG00000129163 ENST00000522706.1:c.976+9144C>T chr8.hg19:g.609453G>A NA A8K2J9|Q9P063 hg19 0.02 1.285082 TCCxGTG COVERED NOVEL ERICH1-003 NOVEL basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000374540.1 4 4.833014 KEEP 181 6 149 69 2275 GG 0.99649 0.980707 0 - 16 23 411 0 0 33.893556 42 24 1346 382 ENST00000522706.1 0.275862 0.984161 ERICH1-AS1 619343 __UNKNOWN__ __UNKNOWN__ 8 715921 715921 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:715921T>C ENST00000522092.1 + 0 175 ERICH1-AS1_ENST00000577187.1_RNA NR_073397.1|NR_073466.1 P0C838 ERAS1_HUMAN ERICH1 antisense RNA 1 NA NA NA gtaatcccagtactttgggag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC022082, BC038783 8p23.3 2012-10-12 2012-08-15 2012-04-16 ENSG00000237647 ENSG00000237647 619343 Long non-coding RNAs 32290 non-coding RNA RNA, long non-coding chromosome 8 open reading frame 68, ERICH1 antisense RNA 1 (non-protein coding) C8orf68 NA Standard NR_073397 NA Approved uc003wpj.2 P0C838 OTTHUMG00000163635 ENST00000522092.1: chr8.hg19:g.715921T>C NA hg19 0.02 -0.245514 CAGxACT COVERED NOVEL ERICH1-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000374623.1 8 3.911319 KEEP 0 0 0 13 390 TT 0.994391 0.63775 0 + 3 60 102 0 0 7.649269 22 60 604 59 ENST00000522092.1 0.12 0.641347 MCPH1 79648 __UNKNOWN__ __UNKNOWN__ 8 6500895 6500895 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:6500895G>C ENST00000344683.5 + 0 2909 CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000527490.1_RNA|CTD-2541M15.1_ENST00000525186.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA NM_024596.3 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 1 NA NA cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654) identical protein binding (GO:0042802) AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) aagcgattctgctgcctcagc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(95;1448 1467 8277 34473 35819) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022909 CCDS43689.1, CCDS55190.1, CCDS55191.1 8p23.1 2012-11-26 2007-11-26 ENSG00000147316 ENSG00000147316 79648 6954 protein-coding gene gene with protein product BRCT-repeat inhibitor of TERT expression 1 607117 microcephaly, primary autosomal recessive 1 NA 9683597, 17925396 Standard NM_024596 NM_024596 NA Approved FLJ12847, BRIT1 uc003wqi.3 Q8NEM0 OTTHUMG00000163618 ENST00000344683.5:c.*325G>C chr8.hg19:g.6500895G>C NA B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7 hg19 CCDS43689.1 0.02 -0.184208 TCTxCTG COVERED NOVEL MCPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374532.2 2 3.009917 KEEP 0 0 0 10 361 GG 0.992708 0.486967 0 + 3 60 89 0 0 6.810583 15 60 500 40 ENST00000344683.5 0.166667 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 7148026 7148026 __UNKNOWN__ IGR SNP T T C rs201322556 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:7148026T>C NA NA AF228730.2 (91916 upstream) : FAM66B (28035 downstream) NA NA NA GTGCGGTGACTCCGAAGCTCC 0.647 NA .||| 630 0.125799 0.3109 0.0346 5008 , , NA 16921 0.0575 NA 0.0596 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.7148026T>C NA hg19 0.02 -0.421013 GACxCCG UNCOVERED NOVEL 0 0 5.716596 KEEP 46 0 0 19 574 TT 0 0 0 10 41 337 0 0 27.805716 38 43 1141 130 0.208333 0.948402 SPAG11B 10407 __UNKNOWN__ __UNKNOWN__ 8 7308410 7308410 __UNKNOWN__ Missense_Mutation SNP G G A rs2256100 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:7308410G>A ENST00000398462.2 - 3 377 c.227C>T c.(226-228)cCg>cTg p.P76L SPAG11B_ENST00000528168.1_Silent_p.T48T|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000297498.2_Silent_p.T101T|SPAG11B_ENST00000458665.1_Missense_Mutation_p.P23L|SPAG11B_ENST00000359758.5_Missense_Mutation_p.P76L NM_058201.2 NP_478108.2 Q08648 SG11B_HUMAN sperm associated antigen 11B 0 NA spermatogenesis (GO:0007283) extracellular region (GO:0005576) large_intestine(2)|lung(3)|urinary_tract(1) 6 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) TCTAATTCCCGGTGGAACATC 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF168616 CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1 8p23.1 2014-02-21 2007-03-15 2007-03-15 ENSG00000164871 ENSG00000164871 10407 14534 protein-coding gene gene with protein product epididymal protein 2B 606560 NA 8167223, 1693137 Standard NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207 NM_058200 NA Approved HE2, EP2, EP2C, EP2D, EDDM2B uc003wrl.3 Q08648 OTTHUMG00000129219 ENST00000398462.2:c.227C>T chr8.hg19:g.7308410G>A ENSP00000381480:p.Pro76Leu NA E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8 hg19 CCDS47774.1 0.02 2.933265 CCCxGTG COVERED 92 0.04212454212454213 26 0.052845528455284556 10 0.027624309392265192 14 0.024475524475524476 42 0.055408970976253295 g 3.773 -0.047319 0.07407 . . ENSG00000164871 ENST00000359758;ENST00000458665;ENST00000398462 . . . 3.44 2.57 0.30868 . . . . . T 0.22322 0.0538 . . . 0.80722 D 1 D;D;B 0.89917 1.0;1.0;0.001 D;D;B 0.87578 0.998;0.998;0.001 T 0.49214 -0.8963 7 0.40728 T 0.16 -9.1781 7.0954 0.25307 0.1244:0.0:0.8756:0.0 rs2256100 76;23;76 A8MZA0;E9PFH0;E9PAK7 .;.;. L 76;23;76 . ENSP00000352797:P76L P - 2 0 SPAG11B 7295820 0.983000 0.35010 0.997000 0.53966 0.176000 0.22953 0.386000 0.20702 1.046000 0.40249 -0.378000 0.06908 CCG NOVEL SPAG11B-007 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000383782.1 5 35.447459 KEEP 58 5 151 171 5729 GG 1 1 0 - 18 49 530 0 0 38.905566 112 60 3604 469 ENST00000398462.2 0.138462 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 7351293 7351293 __UNKNOWN__ IGR SNP C C T rs200204216 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:7351293C>T NA NA DEFB105B (4178 upstream) : DEFB107B (2074 downstream) NA NA NA aactaaactcctggctcaagt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.7351293C>T NA hg19 0.02 -0.166637 CTCxTGG COVERED NOVEL 0 8 3.310323 KEEP 18 0 0 11 387 CC 0.992708 0.351366 0 6 49 167 0 0 14.584602 12 50 431 68 0.333333 0.353947 SPAG11A 653423 __UNKNOWN__ __UNKNOWN__ 8 7717861 7717861 __UNKNOWN__ Intron SNP C C G rs199535123 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:7717861C>G ENST00000434307.2 + 3 381 SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000454911.2_Intron|SPAG11A_ENST00000326625.5_Intron Q6PDA7 SG11A_HUMAN sperm associated antigen 11A NA NA extracellular region (GO:0005576) central_nervous_system(1)|lung(2) 3 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) CCCTTTGTTTCCTTCTAGTGC 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43700.1 8p23.1 2009-09-12 2007-03-15 ENSG00000178287 ENSG00000178287 653423 33342 protein-coding gene gene with protein product epididymal protein 2A NA Standard NM_001081552 NM_001081552 NA Approved HE2, EDDM2A Q6PDA7 OTTHUMG00000162440 ENST00000434307.2:c.215-8C>G chr8.hg19:g.7717861C>G NA A6NIY0|E9PAK7 hg19 0.02 -0.12282 TTTxCTT COVERED NOVEL SPAG11A-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000383798.1 0 3.912268 KEEP 0 0 0 13 449 CC 0.994391 0.19521 0 + 8 47 278 0 0 27.464236 6 60 207 44 ENST00000434307.2 0.571429 0.196312 ERI1 90459 __UNKNOWN__ __UNKNOWN__ 8 8933664 8933664 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:8933664A>G ENST00000520332.1 + 5 399 Q8IV48 ERI1_HUMAN exoribonuclease 1 NA NA gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125) cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634) 3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843) NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 ttattgcccaagctggtctca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035279 CCDS5972.1 8p23.1 2008-12-16 2008-12-16 2008-12-16 ENSG00000104626 ENSG00000104626 90459 Enhanced RNAi three prime mRNA exonucleases 23994 protein-coding gene gene with protein product exoribonuclease 1, enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans) 608739 three prime histone mRNA exonuclease 1 THEX1 NA 14536070 Standard NM_153332 NM_153332 NA Approved 3'HEXO uc003wsk.2 Q8IV48 OTTHUMG00000129328 ENST00000520332.1:c.400-12306A>G chr8.hg19:g.8933664A>G NA A8K4U7|Q9NSX3 hg19 0.02 -0.105133 CCAxGCT UNCOVERED NOVEL ERI1-007 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000374780.2 6 3.007466 KEEP 0 0 0 10 312 AA 0.992708 0.138812 0 + 3 60 83 0 0 6.930629 8 60 239 29 ENST00000520332.1 0.272727 0.139832 TNKS 8658 __UNKNOWN__ __UNKNOWN__ 8 9593069 9593069 __UNKNOWN__ Intron SNP A A G rs202017762 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:9593069A>G ENST00000518281.1 + 17 2363 TNKS_ENST00000310430.6_Intron O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase NA NA mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055) chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242) NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270) NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) ccagcactttaggaggccgag 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF082556 CCDS5974.1 8p23.1 2013-01-10 ENSG00000173273 ENSG00000173273 8658 Poly (ADP-ribose) polymerases, Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 11941 protein-coding gene gene with protein product 603303 NA 9822378, 10198177 Standard NM_003747 XM_006716263 NA Approved TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5 uc003wss.3 O95271 OTTHUMG00000090481 ENST00000518281.1:c.1932+73A>G chr8.hg19:g.9593069A>G NA O95272|Q4G0F2 hg19 0.02 1.710166 TTTxGGA COVERED NOVEL TNKS-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375036.1 3 3.877226 KEEP 0 2 69 37 1120 AA 1 0.994422 0 + 5 60 165 0 0 11.415229 55 60 1625 119 ENST00000518281.1 0.083333 0.994422 MSRA 4482 __UNKNOWN__ __UNKNOWN__ 8 10108358 10108358 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:10108358T>C ENST00000521209.2 + 0 745 MSRA_ENST00000317173.4_Intron|MSRA_ENST00000528246.1_Intron|MSRA_ENST00000518255.1_Intron|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000382490.5_Intron Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A NA NA cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) peptide-methionine (S)-S-oxide reductase activity (GO:0008113) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) TTatatgtaataaacctgcac 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(88;1378 1469 30580 49103 52286) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC054033 CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1 8p23.1 2009-07-10 ENSG00000175806 ENSG00000175806 4482 1.8.4.11 7377 protein-coding gene gene with protein product 601250 NA 10452521 Standard NM_012331 NM_012331 NA Approved uc003wsx.3 Q9UJ68 OTTHUMG00000090517 ENST00000521209.2:c.*379T>C chr8.hg19:g.10108358T>C NA E9PAS8|Q52TC4|Q549N4|Q66MI7 hg19 0.02 -0.333214 TAAxAAA COVERED NOVEL MSRA-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375427.2 2 3.911796 KEEP 0 0 0 13 404 TT 0.994391 0.847205 0 + 3 60 104 0 0 7.27543 35 60 979 56 ENST00000521209.2 0.078947 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 11651709 11651709 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:11651709A>T NA NA NEIL2 (6854 upstream) : FDFT1 (1372 downstream) NA NA NA ccatctctacaaaaaatacaa 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.11651709A>T NA hg19 0.02 -0.31555 TACxAAA COVERED NOVEL 0 3 2.406672 KEEP 0 0 0 8 234 AA 0.99257 0.812384 0 4 60 115 0 0 8.012483 31 60 832 56 0.114286 0.818465 CTSB 1508 __UNKNOWN__ __UNKNOWN__ 8 11701444 11701444 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:11701444A>G ENST00000353047.6 - 0 2463 CTSB_ENST00000434271.1_3'UTR NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B NA NA cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224) endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471) collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) ggaaggctgaagcaggagaat 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M14221 CCDS5986.1 8p23.1 2012-10-02 ENSG00000164733 ENSG00000164733 1508 3.4.22.1 Cathepsins 2527 protein-coding gene gene with protein product 116810 NA 8112600, 3463996 Standard NM_147780 XM_006716244 NA Approved uc003wuq.3 P07858 OTTHUMG00000090799 ENST00000353047.6:c.*1190T>C chr8.hg19:g.11701444A>G NA B3KQR5|B3KRR5|Q503A6|Q96D87 hg19 CCDS5986.1 0.02 8.007086 TGAxGCA COVERED NOVEL CTSB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207586.3 27 7.862675 KEEP 0 4 122 69 2269 AA 1 1 0 - 10 60 306 0 0 18.320516 197 60 5917 388 ENST00000353047.6 0.048309 1 FAM86B1 85002 __UNKNOWN__ __UNKNOWN__ 8 12042783 12042783 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:12042783A>G ENST00000533852.2 - 7 892 FAM86B1_ENST00000534520.1_3'UTR|FAM86B1_ENST00000448228.2_Intron|FAM86B1_ENST00000321602.8_Missense_Mutation_p.S104P Q8N7N1 F86B1_HUMAN family with sequence similarity 86, member B1 NA NA p.S104P(1) kidney(1)|prostate(1)|stomach(1) 3 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.0965) GGGAGTGTGGAGCATCCTAGC 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) endometrium(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007983 CCDS59512.1 8p23.1 2014-02-12 2005-08-19 ENSG00000186523 ENSG00000186523 85002 28268 protein-coding gene gene with protein product NA 12477932 Standard NM_032916 NM_001083537 NA Approved MGC16279 uc010lse.3 Q8N7N1 OTTHUMG00000165298 ENST00000533852.2:c.892+101T>C chr8.hg19:g.12042783A>G NA hg19 0.02 -0.14032 TGGxGCA UNCOVERED . . . . . . . . . . - 2.769 -0.256180 0.05829 . . ENSG00000186523 ENST00000321602 T 0.28666 1.6 1.17 1.17 0.20885 . . . . . T 0.16727 0.0402 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.25813 -1.0121 8 0.28530 T 0.3 . 3.6894 0.08340 0.2635:0.0:0.7365:0.0 . 104 F6QN85 . P 104 ENSP00000439686:S104P ENSP00000439686:S104P S - 1 0 FAM86B1 12080192 0.019000 0.18553 0.001000 0.08648 0.018000 0.09664 0.316000 0.19469 0.078000 0.16900 -1.204000 0.01649 TCC NOVEL FAM86B1-023 NOVEL alternative_3_UTR|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000383318.2 0 2.708059 KEEP 9 0 0 9 282 AA 0 0 0 - 7 27 206 0 0 19.176688 9 27 266 37 ENST00000533852.2 0.4375 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 12407157 12407157 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:12407157A>G NA NA AC130352.1 (22807 upstream) : AC068587.2 (28356 downstream) NA NA NA ttttagtagaaacggggtttc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.12407157A>G NA hg19 0.02 1.590485 AGAxACG COVERED NOVEL 0 8 2.744014 KEEP 0 1 34 21 702 AA 0.999879 0.981836 0 7 60 210 0 0 15.243218 48 60 1360 85 0.127273 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 12407276 12407276 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:12407276A>G NA NA AC130352.1 (22926 upstream) : AC068587.2 (28237 downstream) NA NA NA gccTATATGAATTTTATATTT 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.12407276A>G NA hg19 0.02 9.689425 TGAxTTT COVERED NOVEL 0 39 21.904198 KEEP 11 1 38 86 2779 AA 1 1 0 14 47 471 1 0 30.490461 231 60 6759 481 0.057143 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 12407360 12407360 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:12407360T>C NA NA AC130352.1 (23010 upstream) : AC068587.2 (28153 downstream) NA NA NA AGACTTGCCCTCTTGCCCTAT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.12407360T>C NA hg19 0.02 5.669786 CCCxCTT COVERED NOVEL 0 28 2.770335 KEEP 0 5 180 72 2314 TT 1 1 0 26 60 898 0 0 69.938065 154 60 4608 362 0.144444 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 12420828 12420828 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:12420828A>G NA NA AC130352.1 (36478 upstream) : AC068587.2 (14685 downstream) NA NA NA ccaaagtgctaggattacagg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.12420828A>G NA hg19 0.02 1.68701 GCTxGGA COVERED NOVEL 0 21 5.717274 KEEP 2 0 0 19 594 AA 0.99986 0.999078 0 4 51 143 0 0 9.453557 70 60 2028 149 0.054054 0.999218 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 12440937 12440937 __UNKNOWN__ IGR SNP C C T rs11775132 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:12440937C>T NA NA AC068587.2 (5276 upstream) : AC068587.1 (52675 downstream) NA NA NA gtttgggaggccgaggtggat 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.12440937C>T NA hg19 0.02 -0.19298 AGGxCGA COVERED NOVEL 0 5 3.908291 KEEP 8 0 0 13 455 CC 0.993072 0.454585 0 7 60 207 0 0 18.81459 11 60 380 53 0.388889 0.457757 KIAA1456 57604 __UNKNOWN__ __UNKNOWN__ 8 12880475 12880475 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:12880475T>G ENST00000447063.2 + 6 593 KIAA1456_ENST00000524591.2_3'UTR Q9P272 K1456_HUMAN KIAA1456 NA NA methyltransferase activity (GO:0008168) endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 ctgggcaacatagcaagactc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035082 CCDS47808.1 8p22 2013-10-04 2011-02-23 2011-02-23 ENSG00000250305 ENSG00000250305 57604 26725 protein-coding gene gene with protein product 615666 chromosome 8 open reading frame 79 C8orf79 NA 23381944 Standard NM_001099677 NM_020844 NA Approved FLJ36980 uc010lsq.3 Q8N9K7 OTTHUMG00000165477 ENST00000447063.2:c.265-8148T>G chr8.hg19:g.12880475T>G NA Q96AW6 hg19 0.02 -0.429658 ACAxAGC COVERED NOVEL KIAA1456-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000383263.2 7 2.406311 KEEP 0 0 0 8 235 TT 0.99257 0.9474 0 + 3 60 99 0 1 6.54847 42 60 1165 70 ENST00000447063.2 0.066667 0.954491 KIAA1456 57604 __UNKNOWN__ __UNKNOWN__ 8 12882444 12882444 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:12882444C>G ENST00000447063.2 + 6 593 KIAA1456_ENST00000524591.2_3'UTR Q9P272 K1456_HUMAN KIAA1456 NA NA methyltransferase activity (GO:0008168) endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 AAGAGCAAAACTAATGTAAAC 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035082 CCDS47808.1 8p22 2013-10-04 2011-02-23 2011-02-23 ENSG00000250305 ENSG00000250305 57604 26725 protein-coding gene gene with protein product 615666 chromosome 8 open reading frame 79 C8orf79 NA 23381944 Standard NM_001099677 NM_020844 NA Approved FLJ36980 uc010lsq.3 Q8N9K7 OTTHUMG00000165477 ENST00000447063.2:c.265-6179C>G chr8.hg19:g.12882444C>G NA Q96AW6 hg19 0.02 1.807244 AAAxTAA COVERED NOVEL KIAA1456-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000383263.2 2 10.835441 KEEP 0 0 0 36 1309 CC 0.999999 0.999803 0 + 62 60 2117 0 0 219.160349 24 60 819 192 ENST00000447063.2 0.72093 0.999804 DLC1 10395 __UNKNOWN__ __UNKNOWN__ 8 13366218 13366218 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:13366218C>T ENST00000276297.4 - 1 285 DLC1_ENST00000316609.5_Intron|DLC1_ENST00000511869.1_Intron NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN DLC1 Rho GTPase activating protein NA NA actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634) lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 tgagccaccacgcccggccAG 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF035119 CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1 8p22 2014-06-20 2014-06-20 ENSG00000164741 ENSG00000164741 10395 Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing 2897 protein-coding gene gene with protein product StAR-related lipid transfer (START) domain containing 12 604258 deleted in liver cancer 1 NA 9605766, 11214970 Standard NM_182643, NM_006094 NM_182643 NA Approved HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP uc003wwm.2 Q96QB1 OTTHUMG00000090825 ENST00000276297.4:c.124+5892G>A chr8.hg19:g.13366218C>T NA B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2 hg19 CCDS5989.1 0.02 -0.333262 CCAxGCC COVERED NOVEL DLC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000207632.2 10 3.611316 KEEP 4 0 0 12 400 CC 0.993634 0.84656 0 - 4 60 112 0 0 7.766271 30 60 930 72 ENST00000276297.4 0.117647 0.851984 SGCZ 137868 __UNKNOWN__ __UNKNOWN__ 8 14094978 14094978 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:14094978T>C ENST00000382080.1 - 4 1140 SGCZ_ENST00000421524.2_Intron NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta NA NA membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ggtgacagagtgagactctgt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY028700 CCDS5992.2 8p22 2014-09-17 2010-04-21 ENSG00000185053 ENSG00000185053 137868 14075 protein-coding gene gene with protein product 608113 NA 12189167 Standard NM_139167 XM_006716287 NA Approved ZSG1 uc003wwq.3 Q96LD1 OTTHUMG00000090827 ENST00000382080.1:c.424+122A>G chr8.hg19:g.14094978T>C NA Q6REU0 hg19 CCDS5992.2 0.02 1.82219 GAGxGAG COVERED NOVEL SGCZ-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207636.2 3 6.616696 KEEP 1 0 0 22 614 TT 0.999892 0.999002 0 - 5 60 167 0 0 11.206096 67 70 1747 112 ENST00000382080.1 0.069444 0.99911 MICU3 286097 __UNKNOWN__ __UNKNOWN__ 8 16930904 16930904 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:16930904A>G ENST00000318063.5 + 3 609 NM_181723.2 NP_859074.1 Q86XE3 MICU3_HUMAN mitochondrial calcium uptake family, member 3 NA NA integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509) NA gagggatctaagttgtgtgct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC032868 CCDS5999.1 8p22 2013-03-26 2013-03-26 2013-03-14 ENSG00000155970 ENSG00000155970 286097 EF-hand domain containing 27820 protein-coding gene gene with protein product 610633 EF hand domain family A2, EF-hand domain family, member A2 EFHA2 NA 23409044 Standard NM_181723 NM_181723 NA Approved DKFZp313A0139 uc003wxd.2 Q86XE3 OTTHUMG00000096965 ENST00000318063.5:c.567+3676A>G chr8.hg19:g.16930904A>G NA Q8IYZ3 hg19 CCDS5999.1 0.02 -0.271906 CTAxGTT COVERED NOVEL MICU3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214031.1 5 2.708714 KEEP 0 0 0 9 304 AA 0.99254 0.711964 0 + 4 60 123 0 0 9.291536 23 60 703 60 ENST00000318063.5 0.148148 0.717315 PDGFRL 5157 __UNKNOWN__ __UNKNOWN__ 8 17485253 17485253 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:17485253A>G ENST00000541323.1 + 5 950 PDGFRL_ENST00000251630.6_Intron|PDGFRL_ENST00000398074.3_Intron NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like NA NA G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791) extracellular region (GO:0005576) platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) ccaaagtgctaggattacagg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D37965 CCDS6003.1 8p22-p21.3 2013-01-29 ENSG00000104213 ENSG00000104213 5157 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 8805 protein-coding gene gene with protein product 604584 NA Standard NM_006207 NM_006207 NA Approved PRLTS uc003wxr.3 Q15198 OTTHUMG00000130818 ENST00000541323.1:c.506-743A>G chr8.hg19:g.17485253A>G NA A8K085|Q6FH04 hg19 CCDS6003.1 0.02 -0.21922 GCTxGGA COVERED NOVEL PDGFRL-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253366.3 6 2.708284 KEEP 2 0 0 9 284 AA 0.99257 0.54878 0 + 3 60 102 0 0 7.705815 21 60 606 50 ENST00000541323.1 0.125 0.552887 PSD3 23362 __UNKNOWN__ __UNKNOWN__ 8 18392331 18392331 __UNKNOWN__ 3'UTR SNP G G A rs187657952 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:18392331G>A ENST00000327040.8 - 0 4168 PSD3_ENST00000440756.2_3'UTR|PSD3_ENST00000523619.1_3'UTR|PSD3_ENST00000428502.2_3'UTR|PSD3_ENST00000286485.8_3'UTR NM_015310.3 NP_056125.3 Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 NA NA neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|postsynaptic membrane (GO:0045211) ARF guanyl-nucleotide exchange factor activity (GO:0005086) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) acacacgcacgcacacacaca 0.423 NA G||| 1 0.000199681 0 0 5008 , , NA 19869 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF243495 CCDS34854.1, CCDS43720.1 8p21.3 2013-01-10 ENSG00000156011 ENSG00000156011 23362 Pleckstrin homology (PH) domain containing 19093 protein-coding gene gene with protein product 614440 NA Standard NM_015310 NM_206909 NA Approved KIAA0942, HCA67, EFA6R, DKFZp761K1423 uc003wza.3 Q9NYI0 OTTHUMG00000163711 ENST00000327040.8:c.*922C>T chr8.hg19:g.18392331G>A NA A6NFQ4|E9KL50|Q6B003|Q9Y2F1 hg19 CCDS43720.1 0.02 1.085151 CACxCAC COVERED NOVEL PSD3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000374867.1 16 3.74626 KEEP 0 1 30 23 798 GG 0.999909 0.99979 0 - 5 60 144 1 0 8.620515 77 60 2555 162 ENST00000327040.8 0.060976 0.999881 LZTS1 11178 __UNKNOWN__ __UNKNOWN__ 8 20105809 20105809 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:20105809G>T ENST00000381569.1 - 0 3572 LZTS1_ENST00000265801.6_3'UTR Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 NA NA cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351) apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) ccagcctgggggacagagcaa 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF123659 CCDS6015.1 8p22 2012-10-05 ENSG00000061337 ENSG00000061337 11178 13861 protein-coding gene gene with protein product 606551 F37/Esophageal cancer-related gene-coding leucine-zipper motif NA 10097140, 17349584 Standard NM_021020 NM_021020 NA Approved FEZ1 uc003wzr.3 Q9Y250 OTTHUMG00000097027 ENST00000381569.1:c.*1424C>A chr8.hg19:g.20105809G>T NA D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2 hg19 CCDS6015.1 0.02 1.421052 GGGxGAC COVERED NOVEL LZTS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214122.1 6 4.513649 KEEP 2 0 0 15 494 GG 0.99649 0.994052 0 - 5 60 144 1 0 9.357847 54 60 1775 114 ENST00000381569.1 0.084746 0.997553 XPO7 23039 __UNKNOWN__ __UNKNOWN__ 8 21824547 21824547 __UNKNOWN__ Intron SNP A A G rs4872191 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:21824547A>G ENST00000252512.9 + 2 265 XPO7_ENST00000434536.1_Intron|XPO7_ENST00000518017.1_Intron|XPO7_ENST00000433566.4_Intron NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 NA NA mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634) nuclear export signal receptor activity (GO:0005049) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) AAAGGATAACAGGCGCTTCGG 0.453 NA G||| 2811 0.561302 0.764 0.3775 5008 , , NA 18599 0.4861 NA 0.5984 False NA ,,, NA NA NA 2504 0.4571 NA NA NA NA 0 G 2930,1054 1095,740,157 47 47 47 NA -10.4 0 8 dbSNP_111 47 4591,3731 1268,2055,838 no intron XPO7 NM_015024.4 2363,2795,995 GG,GA,AA NA 44.833,26.4558,38.8835 21824547 7521,4785 1992 4161 6153 SO:0001627 intron_variant AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 23039 Exportins 14108 protein-coding gene gene with protein product 606140 RAN binding protein 16 RANBP16 NA 11024021, 9872452 Standard NM_015024 NM_015024 NA Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.165+33A>G chr8.hg19:g.21824547A>G NA O94846|Q6PJK9|Q8NEK7 hg19 CCDS47818.1 0.02 -0.289373 AACxGGC COVERED NOVEL XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375494.1 0 3.61129 KEEP 0 0 0 12 387 AA 0.993634 0.756043 0 + 3 60 101 0 0 7.167538 30 60 862 58 ENST00000252512.9 0.090909 0.760887 HR 55806 __UNKNOWN__ __UNKNOWN__ 8 21976853 21976853 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:21976853T>G ENST00000381418.4 - 15 4458 HR_ENST00000312841.8_Intron NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated NA NA negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nuclear body (GO:0016604)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) caggcgcggttgctcacgcct 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039196 CCDS6022.1, CCDS6023.1 8p12 2012-12-07 2012-12-07 ENSG00000168453 ENSG00000168453 55806 5172 protein-coding gene gene with protein product 602302 hairless (mouse) homolog, hairless homolog (mouse) ALUNC NA 10051399, 9463324 Standard NM_018411 NA Approved AU uc003xas.3 O43593 OTTHUMG00000097089 ENST00000381418.4:c.2978-57A>C chr8.hg19:g.21976853T>G NA Q6GS30|Q96H33|Q9NPE1 hg19 CCDS6022.1 0.02 3.619493 GGTxGCT COVERED NOVEL HR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214213.1 10 14.14351 KEEP 0 0 0 47 1496 TT 1 1 0 - 6 60 204 0 0 12.992076 111 60 3284 243 ENST00000381418.4 0.051282 1 SLC39A14 23516 __UNKNOWN__ __UNKNOWN__ 8 22291411 22291411 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:22291411T>C ENST00000240095.6 + 9 1477 c.1340T>C c.(1339-1341)tTt>tCt p.F447S NM_001135154.1 NP_001128626.1 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 0 NA cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385) NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) tagatggagttttgctctgtt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense D31887 CCDS6030.1, CCDS47822.1, CCDS47823.1 8p21.2 2013-05-22 ENSG00000104635 ENSG00000104635 23516 Solute carriers 20858 protein-coding gene gene with protein product 608736 solute carrier family 39 (metal ion transporter), member 14 NA 12659941 Standard XM_046677 NM_015359 NA Approved KIAA0062, NET34, ZIP14 uc011kzh.2 Q15043 OTTHUMG00000097791 ENST00000240095.6:c.1340T>C chr8.hg19:g.22291411T>C ENSP00000240095:p.Phe447Ser NA A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3 hg19 CCDS47822.1 0.02 3.030214 AGTxTTG COVERED . . . . . . . . . . T 2.304 -0.359462 0.05138 . . ENSG00000104635 ENST00000240095 T 0.63255 -0.03 0.321 -0.641 0.11490 . . . . . T 0.46870 0.1415 . . . 0.09310 N 1 B 0.25272 0.122 B 0.26969 0.075 T 0.40117 -0.9580 7 0.72032 D 0.01 . . . . . 447 Q15043-2 . S 447 ENSP00000240095:F447S ENSP00000240095:F447S F + 2 0 SLC39A14 22347356 0.011000 0.17503 0.004000 0.12327 0.003000 0.03518 0.209000 0.17435 -0.546000 0.06216 -0.540000 0.04249 TTT NOVEL SLC39A14-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000215040.1 6 20.982463 KEEP 0 1 32 81 2276 TT 1 0.999999 0 + 8 60 220 0 0 13.267871 106 60 2693 221 ENST00000240095.6 0.070175 0.999999 AC037459.4 0 __UNKNOWN__ __UNKNOWN__ 8 22453503 22453503 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:22453503T>G ENST00000430850.2 + 4 446 PDLIM2_ENST00000265810.4_3'UTR NA NA NA agatggggtctcactatgttg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000430850.2:c.363+2158T>G chr8.hg19:g.22453503T>G NA hg19 0.02 -0.428964 GTCxCAC COVERED NOVEL AC037459.4-002 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000334202.3 16 7.82186 KEEP 0 0 0 26 772 TT 0.999957 0.95445 0 + 3 60 103 0 0 6.920037 43 60 1179 97 ENST00000430850.2 0.065217 0.954491 CCAR2 57805 __UNKNOWN__ __UNKNOWN__ 8 22474094 22474094 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:22474094A>G ENST00000308511.4 + 14 2094 CCAR2_ENST00000389279.3_Intron|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Intron Q8N163 CCAR2_HUMAN cell cycle and apoptosis regulator 2 NA NA cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993) NA actttgggagaccgaggtggg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834351 CCDS34863.1 8p22 2013-08-22 2013-08-22 2013-08-22 ENSG00000158941 57805 23360 protein-coding gene gene with protein product deleted in breast cancer 607359 KIAA1967 KIAA1967 NA 12370419 Standard NM_021174 NM_021174 NA Approved DBC-1, DBC1, NET35 uc003xci.3 Q8N163 ENST00000308511.4:c.1845+333A>G chr8.hg19:g.22474094A>G NA A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55 hg19 CCDS34863.1 0.02 -0.438369 GAGxCCG COVERED NOVEL CCAR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375865.1 6 3.544361 KEEP 1 1 17 18 525 AA 0.99986 0.959724 0 + 4 60 127 0 0 8.675435 43 60 1177 83 ENST00000308511.4 0.085106 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 22828239 22828239 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:22828239A>G NA NA PEBP4 (29390 upstream) : RN7SL303P (7150 downstream) NA NA NA caaagtgctgagattacaggc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.22828239A>G NA hg19 0.02 -0.16665 CTGxGAT COVERED NOVEL 0 4 2.708394 KEEP 0 0 0 9 288 AA 0.99254 0.351306 0 5 60 177 0 0 15.467618 13 60 383 39 0.277778 0.353947 RP11-875O11.1 0 __UNKNOWN__ __UNKNOWN__ 8 22844049 22844049 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:22844049G>A ENST00000523884.1 - 0 148 NA NA NA tgggattacaggcatgagcca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000523884.1: chr8.hg19:g.22844049G>A NA hg19 0.02 -0.149128 ACAxGCA COVERED NOVEL RP11-875O11.1-002 KNOWN basic antisense NA antisense OTTHUMT00000375234.1 4 2.407978 KEEP 3 0 0 8 296 GG 0.99257 0.289832 0 - 3 60 91 0 0 7.091801 14 60 478 40 ENST00000523884.1 0.176471 0.292001 CLU 1191 __UNKNOWN__ __UNKNOWN__ 8 27462041 27462041 __UNKNOWN__ Intron SNP A A G rs368384567 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:27462041A>G ENST00000316403.10 - 6 1235 CLU_ENST00000546343.1_Intron|CLU_ENST00000560366.1_Intron|CLU_ENST00000523500.1_Intron|CLU_ENST00000405140.3_Intron P10909 CLUS_HUMAN clusterin NA NA blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691) apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366) misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) ccaggctggaatgcaatggtg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M64722 CCDS47832.1 8p21-p12 2012-11-30 2006-02-10 ENSG00000120885 ENSG00000120885 1191 2095 protein-coding gene gene with protein product complement lysis inhibitor, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J 185430 clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) CLI, APOJ NA 1585460 Standard NM_001831 NR_038335 NA Approved SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2 uc003xfz.2 P10909 OTTHUMG00000102114 ENST00000316403.10:c.830-129T>C chr8.hg19:g.27462041A>G NA B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9 hg19 CCDS47832.1 0.02 1.871639 GGAxTGC COVERED NOVEL CLU-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219953.3 6 7.846004 KEEP 0 1 28 36 1043 AA 1 0.987943 0 - 5 60 154 0 0 10.55972 49 60 1289 105 ENST00000316403.10 0.092593 0.987943 CLU 1191 __UNKNOWN__ __UNKNOWN__ 8 27464846 27464846 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:27464846T>C ENST00000316403.10 - 4 652 CLU_ENST00000546343.1_Intron|CLU_ENST00000560366.1_Intron|CLU_ENST00000523500.1_Intron|CLU_ENST00000405140.3_Intron P10909 CLUS_HUMAN clusterin NA NA blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691) apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366) misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) agagcaagactctgtctcaaa 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M64722 CCDS47832.1 8p21-p12 2012-11-30 2006-02-10 ENSG00000120885 ENSG00000120885 1191 2095 protein-coding gene gene with protein product complement lysis inhibitor, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J 185430 clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) CLI, APOJ NA 1585460 Standard NM_001831 NR_038335 NA Approved SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2 uc003xfz.2 P10909 OTTHUMG00000102114 ENST00000316403.10:c.247-805A>G chr8.hg19:g.27464846T>C NA B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9 hg19 CCDS47832.1 0.02 -0.175403 GACxCTG COVERED NOVEL CLU-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219953.3 5 3.611586 KEEP 0 0 0 12 404 TT 0.993634 0.38494 0 - 3 44 106 0 0 8.433272 16 60 475 47 ENST00000316403.10 0.157895 0.387407 ELP3 55140 __UNKNOWN__ __UNKNOWN__ 8 27954775 27954775 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:27954775G>C ENST00000256398.8 + 2 436 c.59G>C c.(58-60)gGa>gCa p.G20A ELP3_ENST00000542181.1_5'UTR|ELP3_ENST00000521015.1_Missense_Mutation_p.G6A|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000537665.1_Intron|ELP3_ENST00000380353.4_5'UTR NM_001284220.1|NM_001284226.1|NM_018091.5 NP_001271149.1|NP_001271155.1|NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 20 NA chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023) histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607) kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) CTGACTATAGGAGATGTTATT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 115 111 113 NA NA NA 8 NA NA 27954775 2203 4300 6503 SO:0001583 missense CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1 8p21.1 2012-08-14 2012-08-08 ENSG00000134014 ENSG00000134014 55140 Chromatin-modifying enzymes / K-acetyltransferases, Elongator acetyltransferase complex subunits 20696 protein-coding gene gene with protein product 612722 elongation protein 3 homolog (S. cerevisiae) NA 11714725 Standard NM_018091 NM_018091 NA Approved FLJ10422, KAT9 uc003xgo.4 Q9H9T3 OTTHUMG00000102124 ENST00000256398.8:c.59G>C chr8.hg19:g.27954775G>C ENSP00000256398:p.Gly20Ala NA B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1 hg19 CCDS6065.1 0.02 8.271939 TAGxAGA COVERED . . . . . . . . . . G 6.367 0.435746 0.12104 . . ENSG00000134014 ENST00000520270;ENST00000521015;ENST00000521570;ENST00000256398;ENST00000524024;ENST00000520288;ENST00000521099 . . . 6.02 6.02 0.97574 . 0.051449 0.85682 D 0.000000 T 0.24044 0.0582 N 0.02158 -0.66 0.80722 D 1 B 0.02656 0.0 B 0.04013 0.001 T 0.27468 -1.0073 9 0.06625 T 0.88 -23.5833 13.5981 0.62002 0.0:0.1553:0.8447:0.0 . 20 Q9H9T3 ELP3_HUMAN A 6;6;6;20;20;6;6 . ENSP00000256398:G20A G + 2 0 ELP3 28010694 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.836000 0.69375 2.865000 0.98341 0.655000 0.94253 GGA NOVEL ELP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219963.2 5 55.078043 KEEP 0 0 0 183 6376 GG 1 1 0 + 41 60 1405 0 0 116.007746 159 60 5273 567 ENST00000256398.8 0.205 1 TMEM66 0 __UNKNOWN__ __UNKNOWN__ 8 29935069 29935069 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:29935069T>C ENST00000256255.6 - 2 361 TMEM66_ENST00000545648.1_Intron|TMEM66_ENST00000536273.1_Intron|TMEM66_ENST00000521083.1_Intron NM_016127.4 NP_057211.4 Q96BY9 SARAF_HUMAN NA NA calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256) integral component of endoplasmic reticulum membrane (GO:0030176) endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) cctgtaatcctagcactttgg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000256255.6:c.104-3498A>G chr8.hg19:g.29935069T>C NA B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683 hg19 CCDS6074.1 0.02 1.932531 TCCxAGC COVERED NOVEL TMEM66-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257254.4 11 4.212973 KEEP 1 0 0 14 443 TT 0.995343 0.96292 0 - 5 60 159 0 0 11.373813 42 60 1239 103 ENST00000256255.6 0.106383 0.967425 LEPROTL1 23484 __UNKNOWN__ __UNKNOWN__ 8 29958981 29958981 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:29958981C>T ENST00000442880.2 + 2 104 LEPROTL1_ENST00000523116.1_Intron|LEPROTL1_ENST00000518001.1_Intron|LEPROTL1_ENST00000321250.8_Intron|LEPROTL1_ENST00000518192.1_Intron O95214 LERL1_HUMAN leptin receptor overlapping transcript-like 1 NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|large_intestine(3) 5 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) gtcgggagttcgagaccagcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF063605 CCDS6075.1, CCDS47834.1 8p12 2014-09-11 ENSG00000104660 ENSG00000104660 23484 6555 protein-coding gene gene with protein product 607338 NA 11342119 Standard NM_015344 NA Approved my047, Vps55 uc003xhx.2 O95214 OTTHUMG00000163820 ENST00000442880.2:c.17-433C>T chr8.hg19:g.29958981C>T NA E9PHP8|Q9BW48 hg19 0.02 -0.140309 GTTxGAG COVERED NOVEL LEPROTL1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375792.1 5 2.695699 KEEP 1 0 0 9 261 CC 0.99254 0.259018 0 + 3 60 85 0 0 6.773355 11 60 344 33 ENST00000442880.2 0.214286 0.260965 DCTN6 10671 __UNKNOWN__ __UNKNOWN__ 8 30021486 30021486 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:30021486A>G ENST00000221114.3 + 2 110 DCTN6_ENST00000520829.1_Intron NM_006571.3 NP_006562.1 O00399 DCTN6_HUMAN dynactin 6 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052) centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776) endometrium(1)|lung(1)|ovary(1)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) ccaaagtgctaggattacagg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84145 CCDS6076.1 8p12-p11 2003-03-20 ENSG00000104671 ENSG00000104671 10671 16964 protein-coding gene gene with protein product 612963 NA 9168138 Standard NM_006571 NM_006571 NA Approved WS-3 uc003xhy.3 O00399 OTTHUMG00000163828 ENST00000221114.3:c.24-141A>G chr8.hg19:g.30021486A>G NA B2RAC1 hg19 CCDS6076.1 0.02 3.859639 GCTxGGA COVERED NOVEL DCTN6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375815.2 14 9.732073 KEEP 3 1 36 45 1323 AA 1 0.999997 0 + 10 60 339 0 0 24.514618 91 60 2561 207 ENST00000221114.3 0.09901 0.999997 DCTN6 10671 __UNKNOWN__ __UNKNOWN__ 8 30038518 30038518 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:30038518A>G ENST00000221114.3 + 6 561 DCTN6_ENST00000520829.1_3'UTR NM_006571.3 NP_006562.1 O00399 DCTN6_HUMAN dynactin 6 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052) centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776) endometrium(1)|lung(1)|ovary(1)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) ctccagcctgagcaacagaga 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84145 CCDS6076.1 8p12-p11 2003-03-20 ENSG00000104671 ENSG00000104671 10671 16964 protein-coding gene gene with protein product 612963 NA 9168138 Standard NM_006571 NM_006571 NA Approved WS-3 uc003xhy.3 O00399 OTTHUMG00000163828 ENST00000221114.3:c.474+372A>G chr8.hg19:g.30038518A>G NA B2RAC1 hg19 CCDS6076.1 0.02 5.397593 CTGxGCA COVERED NOVEL DCTN6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375815.2 30 11.20515 KEEP 2 2 71 62 2001 AA 1 1 0 + 6 60 203 1 0 12.029074 156 60 4716 362 ENST00000221114.3 0.037037 1 DCTN6 10671 __UNKNOWN__ __UNKNOWN__ 8 30040514 30040514 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:30040514C>G ENST00000221114.3 + 7 561 NM_006571.3 NP_006562.1 O00399 DCTN6_HUMAN dynactin 6 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052) centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776) endometrium(1)|lung(1)|ovary(1)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) acaggcatgacccaccacgcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84145 CCDS6076.1 8p12-p11 2003-03-20 ENSG00000104671 ENSG00000104671 10671 16964 protein-coding gene gene with protein product 612963 NA 9168138 Standard NM_006571 NM_006571 NA Approved WS-3 uc003xhy.3 O00399 OTTHUMG00000163828 ENST00000221114.3:c.475-77C>G chr8.hg19:g.30040514C>G NA B2RAC1 hg19 CCDS6076.1 0.02 1.690529 TGAxCCA COVERED NOVEL DCTN6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375815.2 10 13.544104 KEEP 0 0 0 45 1592 CC 1 0.999862 0 + 4 60 143 0 0 9.25013 79 60 2618 187 ENST00000221114.3 0.048193 0.999862 RBPMS 11030 __UNKNOWN__ __UNKNOWN__ 8 30251315 30251315 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:30251315A>G ENST00000339877.4 + 1 648 RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000517860.1_Intron|RBPMS_ENST00000520161.1_Intron NM_001008712.1 NP_001008712.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing NA NA positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) gattacaggcatgagccacca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84110 CCDS6077.1, CCDS34875.1, CCDS34876.1 8p12 2013-06-07 ENSG00000157110 ENSG00000157110 11030 RNA binding motif (RRM) containing 19097 protein-coding gene gene with protein product 601558 NA 8855282 Standard NM_001008710 NA Approved HERMES uc003xib.3 Q93062 OTTHUMG00000163845 ENST00000339877.4:c.66+8641A>G chr8.hg19:g.30251315A>G NA D3DSU9|Q92516|Q92517|Q92518|Q96J26 hg19 CCDS34876.1 0.02 -0.236788 GGCxTGA COVERED NOVEL RBPMS-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376356.1 7 2.9929 KEEP 1 0 0 10 282 AA 0.992708 0.607941 0 + 3 60 101 0 0 7.494723 23 60 662 55 ENST00000339877.4 0.115385 0.612407 RBPMS 11030 __UNKNOWN__ __UNKNOWN__ 8 30266988 30266988 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:30266988T>C ENST00000339877.4 + 1 648 RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000517860.1_Intron|RBPMS_ENST00000520161.1_Intron NM_001008712.1 NP_001008712.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing NA NA positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) ggattacaggtgtgagccacc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84110 CCDS6077.1, CCDS34875.1, CCDS34876.1 8p12 2013-06-07 ENSG00000157110 ENSG00000157110 11030 RNA binding motif (RRM) containing 19097 protein-coding gene gene with protein product 601558 NA 8855282 Standard NM_001008710 NA Approved HERMES uc003xib.3 Q93062 OTTHUMG00000163845 ENST00000339877.4:c.66+24314T>C chr8.hg19:g.30266988T>C NA D3DSU9|Q92516|Q92517|Q92518|Q96J26 hg19 CCDS34876.1 0.02 -0.263123 AGGxGTG COVERED NOVEL RBPMS-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376356.1 4 3.310337 KEEP 0 0 0 11 356 TT 0.993072 0.688863 0 + 3 60 99 0 0 7.192778 25 60 747 65 ENST00000339877.4 0.107143 0.693668 RBPMS 11030 __UNKNOWN__ __UNKNOWN__ 8 30279199 30279199 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:30279199A>G ENST00000339877.4 + 1 648 RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000517860.1_Intron|RBPMS_ENST00000520161.1_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000519647.1_Intron NM_001008712.1 NP_001008712.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing NA NA positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) CTggccgggcatggtggctca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84110 CCDS6077.1, CCDS34875.1, CCDS34876.1 8p12 2013-06-07 ENSG00000157110 ENSG00000157110 11030 RNA binding motif (RRM) containing 19097 protein-coding gene gene with protein product 601558 NA 8855282 Standard NM_001008710 NA Approved HERMES uc003xib.3 Q93062 OTTHUMG00000163845 ENST00000339877.4:c.66+36525A>G chr8.hg19:g.30279199A>G NA D3DSU9|Q92516|Q92517|Q92518|Q96J26 hg19 CCDS34876.1 0.02 -0.315736 GGCxTGG COVERED NOVEL RBPMS-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376356.1 7 3.310227 KEEP 1 0 0 11 349 AA 0.993072 0.812795 0 + 3 60 100 0 1 7.109367 29 60 870 68 ENST00000339877.4 0.09375 0.818465 FUT10 84750 __UNKNOWN__ __UNKNOWN__ 8 33328804 33328804 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:33328804T>C ENST00000327671.5 - 1 359 FUT10_ENST00000524021.1_Intron|FUT10_ENST00000335589.3_Intron NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) NA NA embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) alpha-(1->3)-fucosyltransferase activity (GO:0046920) cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) ctcgctctgttgcccaggctg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ512465 CCDS6088.1 8p12 2013-02-26 ENSG00000172728 ENSG00000172728 84750 Fucosyltransferases 19234 protein-coding gene gene with protein product NA Standard NM_032664 NM_032664 NA Approved uc003xje.3 Q6P4F1 OTTHUMG00000163954 ENST00000327671.5:c.272+1777A>G chr8.hg19:g.33328804T>C NA A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3 hg19 CCDS6088.1 0.02 -0.219261 TGTxGCC COVERED NOVEL FUT10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376540.1 5 2.407362 KEEP 0 0 0 8 253 TT 0.99257 0.54878 0 - 4 60 136 0 0 10.894519 19 60 558 47 ENST00000327671.5 0.173913 0.552887 TTI2 80185 __UNKNOWN__ __UNKNOWN__ 8 33361148 33361148 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:33361148T>C ENST00000520636.1 - 4 1121 TTI2_ENST00000431156.2_Intron|TTI2_ENST00000519356.1_Intron|TTI2_ENST00000360742.5_Intron Q6NXR4 TTI2_HUMAN TELO2 interacting protein 2 NA NA NA gtaatcccagtactttgggag 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026916 CCDS6090.1 8p12 2011-11-10 2011-11-10 2011-09-22 ENSG00000129696 80185 26262 protein-coding gene gene with protein product 614426 chromosome 8 open reading frame 41, Tel2 interacting protein 2 homolog (S. pombe) C8orf41 NA 20801936, 20810650 Standard NM_025115 NM_025115 NA Approved FLJ23263 uc003xjm.5 Q6NXR4 ENST00000520636.1:c.1023-58A>G chr8.hg19:g.33361148T>C NA D3DSV7|Q96IM2|Q9H5N4 hg19 0.02 1.918467 CAGxACT COVERED NOVEL TTI2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000376556.1 7 4.046212 KEEP 0 1 39 27 796 TT 0.999997 0.9937 0 - 8 60 267 0 0 20.168852 54 60 1447 104 ENST00000520636.1 0.129032 0.993703 RP11-863K10.7 0 __UNKNOWN__ __UNKNOWN__ 8 37592360 37592360 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:37592360G>A ENST00000330539.1 - 0 2004 NA NA NA GAGGGGAGACGGGTTGCCAGA 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000330539.1:c.*1038C>T chr8.hg19:g.37592360G>A NA hg19 0.02 -0.280697 GACxGGT COVERED NOVEL RP11-863K10.7-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000376897.1 0 6.018419 KEEP 0 0 0 20 650 GG 0.999863 0.73957 0 - 3 60 94 0 0 6.509927 29 60 929 81 ENST00000330539.1 0.09375 0.739671 DDHD2 23259 __UNKNOWN__ __UNKNOWN__ 8 38092772 38092772 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:38092772T>G ENST00000397166.2 + 3 936 DDHD2_ENST00000520272.2_Intron NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 NA NA cell death (GO:0008219)|lipid catabolic process (GO:0016042) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) CTGatttttattagagatggg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056525 CCDS34883.1 8p11.23 2014-03-03 2004-04-05 2004-04-07 23259 Sterile alpha motif (SAM) domain containing 29106 protein-coding gene gene with protein product 615003 SAM, WWE and DDHD domain containing 1 SAMWD1 NA 9872452, 11788596, 19632984, 20932832 Standard XM_291291 NM_015214 NA Approved KIAA0725, SPG54 uc003xlc.3 O94830 ENST00000397166.2:c.411+670T>G chr8.hg19:g.38092772T>G NA B3KWV2|B3KXB5|Q9H8X7 hg19 CCDS34883.1 0.02 -0.192962 TTAxTAG COVERED NOVEL DDHD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377251.2 6 3.611353 KEEP 0 0 0 12 392 TT 0.993634 0.454842 0 + 3 60 102 0 0 8.11004 15 60 445 48 ENST00000397166.2 0.166667 0.457757 WHSC1L1 54904 __UNKNOWN__ __UNKNOWN__ 8 38235771 38235771 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:38235771T>C ENST00000317025.8 - 1 474 WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000316985.3_Intron|WHSC1L1_ENST00000527502.1_Intron NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 NA NA histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) tgcctgtaattccagcacttt 0.483 NA T NUP98 AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 8 8p12 54904 Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF332469 CCDS6105.1, CCDS43729.1 8p11.2 2013-05-20 ENSG00000147548 ENSG00000147548 54904 12767 protein-coding gene gene with protein product 607083 NA 10802047, 23269674 Standard NM_023034 NM_023034 NA Approved FLJ20353, NSD3 uc003xli.3 Q9BZ95 ENST00000317025.8:c.43+3545A>G chr8.hg19:g.38235771T>C NA B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6 hg19 CCDS43729.1 0.02 -0.254331 AATxCCA COVERED NOVEL WHSC1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381924.3 5 2.707789 KEEP 1 0 0 9 272 TT 0.99254 0.663536 0 - 3 60 91 0 0 6.606997 21 60 612 52 ENST00000317025.8 0.125 0.668523 LETM2 137994 __UNKNOWN__ __UNKNOWN__ 8 38251427 38251427 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:38251427C>A ENST00000523983.2 + 4 532 LETM2_ENST00000379957.4_Intron|LETM2_ENST00000297720.5_Intron|LETM2_ENST00000519476.2_3'UTR|LETM2_ENST00000524874.1_Intron Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 NA NA integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) aatcccagctccttgggaggc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK058138 CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1 8p12 2013-01-11 137994 EF-hand domain containing 14648 protein-coding gene gene with protein product NA 11549311 Standard NM_144652 NM_001286821 NA Approved FLJ25409 uc003xlm.2 Q2VYF4 ENST00000523983.2:c.361-189C>A chr8.hg19:g.38251427C>A NA A6NMG3|Q8NCR2|Q96LL1 hg19 CCDS56534.1 0.02 1.374769 GCTxCTT COVERED NOVEL LETM2-003 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000381688.2 5 3.377871 KEEP 0 2 53 30 1016 CC 0.999997 0.986151 0 + 6 60 160 0 0 10.594714 50 60 1542 96 ENST00000523983.2 0.107143 0.986153 C8orf86 389649 __UNKNOWN__ __UNKNOWN__ 8 38381527 38381527 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:38381527T>C ENST00000358138.1 - 1 340 C8orf86_ENST00000437935.2_Intron NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 NA NA breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 aatcccagcattttgggaggc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC137511 CCDS6108.1 8p12-p11.23 2009-03-03 ENSG00000196166 ENSG00000196166 389649 33774 protein-coding gene gene with protein product NA Standard NM_207412 NM_207412 NA Approved FLJ43582 uc003xlx.1 Q6ZUL3 OTTHUMG00000163992 ENST00000358138.1:c.315+4313A>G chr8.hg19:g.38381527T>C NA A4QPB7 hg19 CCDS6108.1 0.02 -0.22803 GCAxTTT COVERED NOVEL C8orf86-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376668.1 11 3.610937 KEEP 2 0 0 12 374 TT 0.993634 0.579219 0 - 3 60 107 0 0 8.264618 20 60 585 56 ENST00000358138.1 0.130435 0.58293 GINS4 84296 __UNKNOWN__ __UNKNOWN__ 8 41399855 41399855 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:41399855G>A ENST00000276533.3 + 0 1131 RP11-360L9.7_ENST00000524133.1_RNA|RP11-360L9.4_ENST00000523081.1_RNA|RP11-360L9.7_ENST00000578500.1_RNA|GINS4_ENST00000523277.2_3'UTR|GINS4_ENST00000518671.1_3'UTR NM_032336.2 NP_115712.1 Q9BRT9 SLD5_HUMAN GINS complex subunit 4 (Sld5 homolog) NA NA DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) breast(1)|lung(2)|skin(1) 4 Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) gtgagccgaggtcgtgccatt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC005995 CCDS6116.1 8p11.21 2006-05-04 ENSG00000147536 ENSG00000147536 84296 28226 protein-coding gene gene with protein product 610611 NA 12477932 Standard NM_032336 NM_032336 NA Approved MGC14799, SLD5 uc003xnx.3 Q9BRT9 OTTHUMG00000164079 ENST00000276533.3:c.*249G>A chr8.hg19:g.41399855G>A NA B2R8H5|D3DSY0|Q8N648 hg19 CCDS6116.1 0.02 1.207985 GAGxTCG COVERED NOVEL GINS4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377150.1 7 11.892891 KEEP 0 2 64 62 2060 GG 1 0.998993 0 + 5 60 141 0 0 8.64579 66 60 2147 153 ENST00000276533.3 0.070423 0.998993 PLAT 5327 __UNKNOWN__ __UNKNOWN__ 8 42039667 42039667 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:42039667A>G ENST00000524009.1 - 7 634 PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429089.2_Intron|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000220809.4_Intron P00750 TPA_HUMAN plasminogen activator, tissue NA NA blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249) apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202) serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013) ctcctgcctcagcctcccaaa 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6126.1, CCDS6127.1 8p11.21 2012-10-02 ENSG00000104368 ENSG00000104368 5327 9051 protein-coding gene gene with protein product 173370 NA Standard NM_000930 NM_033011 NA Approved uc003xos.2 P00750 OTTHUMG00000164072 ENST00000524009.1:c.537-127T>C chr8.hg19:g.42039667A>G NA A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1 hg19 0.02 -0.315725 CTCxGCC COVERED NOVEL PLAT-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000377104.1 16 6.619673 KEEP 8 0 0 22 677 AA 0.999869 0.835607 0 - 3 60 96 0 0 6.710157 29 60 852 78 ENST00000524009.1 0.09375 0.835716 POMK 84197 __UNKNOWN__ __UNKNOWN__ 8 42978449 42978449 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:42978449T>C ENST00000331373.5 + 0 1737 NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN protein-O-mannose kinase NA NA brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672) NA tcccaaagtgttgggattaca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6141.1 8p11.21 2013-08-22 ENSG00000185900 ENSG00000185900 84197 26267 protein-coding gene gene with protein product 615247 NA 16879967, 23519211 Standard NM_032237 NM_001277971 NA Approved FLJ23356, SgK196 Q9H5K3 OTTHUMG00000164100 ENST00000331373.5:c.*429T>C chr8.hg19:g.42978449T>C NA hg19 CCDS6141.1 0.02 4.020588 GTGxTGG COVERED NOVEL POMK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377291.2 15 13.069711 KEEP 0 1 30 54 1654 TT 1 0.999992 0 + 5 60 177 0 0 11.446755 96 60 2821 243 ENST00000331373.5 0.049505 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43822425 43822425 __UNKNOWN__ IGR SNP T T C rs200336493 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:43822425T>C NA NA AC134698.1 (406509 upstream) : None (None downstream) NA NA NA agtggatatttggatagattt 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.43822425T>C NA hg19 0.02 5.002068 ATTxGGA COVERED NOVEL 0 119 28.851858 KEEP 143 2 69 120 3706 TT 1 1 0 14 46 436 0 0 33.108246 80 46 2229 587 0.148936 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43838646 43838646 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:43838646A>G NA NA AC134698.1 (422730 upstream) : None (None downstream) NA NA NA actttgccatatttccattca 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.43838646A>G NA hg19 0.02 -0.438426 CATxTTT COVERED NOVEL 0 9 3.444525 KEEP 24 1 36 24 727 AA 0.999366 0.959251 0 4 21 128 0 0 8.662332 46 46 1307 129 0.08 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46856228 46856228 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:46856228C>G NA NA None (None upstream) : RNU6-656P (886443 downstream) NA NA NA cgctttcaggcctatggtgaa 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.46856228C>G NA hg19 0.02 -0.333363 AGGxCTA COVERED NOVEL 0 24 11.417424 KEEP 88 0 0 38 1360 CC 0.999366 0.851444 0 4 23 141 0 0 11.022156 24 25 823 235 0.142857 0.851984 PRKDC 5591 __UNKNOWN__ __UNKNOWN__ 8 48834637 48834637 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:48834637A>G ENST00000523565.1 - 22 2476 PRKDC_ENST00000338368.3_Intron|PRKDC_ENST00000314191.2_Intron P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide NA NA B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723) cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) Caffeine(DB00201) cactgcacccagccTGATTTT 0.507 NA Non-homologous end-joining NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(79;1091 1253 12329 31680 40677) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75734.1, CCDS75735.1 8q11 2014-09-17 ENSG00000253729 5591 2.7.11.1 9413 protein-coding gene gene with protein product 600899 HYRC, HYRC1 NA 7638222 Standard NM_001081640 NM_001081640 NA Approved DNPK1, p350, DNAPK, XRCC7, DNA-PKcs uc003xqi.3 P78527 ENST00000523565.1:c.11033-3694T>C chr8.hg19:g.48834637A>G NA P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3 hg19 0.02 -0.333286 CCCxGCC COVERED NOVEL PRKDC-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000377896.1 13 2.708101 KEEP 0 0 0 9 280 AA 0.99254 0.845628 0 - 3 60 94 1 0 6.349862 33 60 989 64 ENST00000523565.1 0.083333 0.851984 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52731564 52731564 __UNKNOWN__ 3'UTR SNP T T C rs113180269 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:52731564T>C ENST00000360540.5 - 0 2827 PCMTD1_ENST00000544451.1_3'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 NA NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) ATATGTTACATTGTACACTTT 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.*1347A>G chr8.hg19:g.52731564T>C NA Q96FK9 hg19 CCDS6148.1 0.02 3.873885 ACAxTGT COVERED NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 2 11.691685 KEEP 0 2 75 65 2049 TT 1 0.999978 0 - 11 70 386 0 0 29.282729 80 60 2342 247 ENST00000360540.5 0.120879 0.999978 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52732289 52732289 __UNKNOWN__ 3'UTR SNP A A G rs78402259 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:52732289A>G ENST00000360540.5 - 0 2102 PCMTD1_ENST00000544451.1_3'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 NA NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TATTTTACCCATGTCTTTTGG 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.*622T>C chr8.hg19:g.52732289A>G NA Q96FK9 hg19 CCDS6148.1 0.02 -0.315724 CCCxTGT COVERED NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 0 6.050438 KEEP 0 1 34 32 967 AA 0.999998 0.818463 0 - 3 46 102 0 0 7.1488 33 60 962 100 ENST00000360540.5 0.083333 0.818465 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52733148 52733148 __UNKNOWN__ Silent SNP C C T rs76104220 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:52733148C>T ENST00000360540.5 - 7 1243 c.837G>A c.(835-837)aaG>aaA p.K279K PCMTD1_ENST00000544451.1_Silent_p.K203K|PCMTD1_ENST00000522514.1_Silent_p.K279K|PCMTD1_ENST00000519559.1_5'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 279 NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) p.K279K(1) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GTTTAACTCTCTTTCTTTTCC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) kidney(1) 163 167 166 NA NA NA 8 NA NA 52733148 2203 4300 6503 SO:0001819 synonymous_variant CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.837G>A chr8.hg19:g.52733148C>T NA Q96FK9 hg19 CCDS6148.1 0.02 1.397257 TCTxTTT COVERED NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 3 5.940194 KEEP 3 1 35 32 1156 CC 0.999998 0.999108 0 - 9 60 278 0 0 20.618756 58 60 1964 172 ENST00000360540.5 0.134328 0.99911 OPRK1 4986 __UNKNOWN__ __UNKNOWN__ 8 54141630 54141630 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:54141630T>C ENST00000265572.3 - 0 1667 RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193) CTGCCTCGCTTCTGTGCCCTA 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6152.1, CCDS64895.1 8q11.2 2014-05-21 ENSG00000082556 ENSG00000082556 4986 GPCR / Class A : Opioid receptors 8154 protein-coding gene gene with protein product 165196 NA 8188308 Standard XM_005251252 NA Approved KOR, OPRK uc003xri.1 P41145 OTTHUMG00000164276 ENST00000265572.3:c.*227A>G chr8.hg19:g.54141630T>C NA E5RHC9|Q499G4 hg19 CCDS6152.1 0.02 -0.350797 GCTxCTG COVERED NOVEL OPRK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378048.1 0 4.212383 KEEP 0 0 0 14 442 TT 0.995343 0.87362 0 - 20 60 648 0 0 62.303025 20 60 574 74 ENST00000265572.3 0.5 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 54877662 54877662 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:54877662A>G NA NA RGS20 (5799 upstream) : TCEA1 (1449 downstream) NA NA NA ctcctgcctcagcctcccaaa 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.54877662A>G NA hg19 0.02 -0.377092 CTCxGCC COVERED NOVEL 0 8 3.00875 KEEP 0 0 0 10 304 AA 0.992708 0.90244 0 3 60 100 0 0 6.773002 38 60 1112 79 0.073171 0.909069 LYPLA1 10434 __UNKNOWN__ __UNKNOWN__ 8 54960809 54960809 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:54960809G>A ENST00000316963.3 - 9 833 LYPLA1_ENST00000343231.6_Intron NM_001279360.1|NM_006330.2 NP_001266289.1|NP_006321.1 O75608 LYPA1_HUMAN lysophospholipase I NA NA fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689) AATTAAATAAGACAAAAGAGA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF081281 CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1 8q11.23-q12.1 2008-05-15 ENSG00000120992 ENSG00000120992 10434 3.1.1.5 6737 protein-coding gene gene with protein product 605599 NA 10064899 Standard NM_006330 NA Approved LPL1 uc003xry.3 O75608 OTTHUMG00000164313 ENST00000316963.3:c.640-131C>T chr8.hg19:g.54960809G>A NA O43202|Q9UQF9 hg19 CCDS6157.1 0.02 -0.166663 TAAxACA COVERED NOVEL LYPLA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378238.1 1 3.007321 KEEP 0 0 0 10 319 GG 0.992708 0.351366 0 - 3 60 88 0 0 6.63398 16 60 524 35 ENST00000316963.3 0.157895 0.353947 LYPLA1 10434 __UNKNOWN__ __UNKNOWN__ 8 54974733 54974733 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:54974733T>C ENST00000316963.3 - 5 480 LYPLA1_ENST00000519926.1_Intron|LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000343231.6_Intron NM_001279360.1|NM_006330.2 NP_001266289.1|NP_006321.1 O75608 LYPA1_HUMAN lysophospholipase I NA NA fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689) GTGTAATTTTTAACCAGTAGC 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF081281 CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1 8q11.23-q12.1 2008-05-15 ENSG00000120992 ENSG00000120992 10434 3.1.1.5 6737 protein-coding gene gene with protein product 605599 NA 10064899 Standard NM_006330 NA Approved LPL1 uc003xry.3 O75608 OTTHUMG00000164313 ENST00000316963.3:c.286+80A>G chr8.hg19:g.54974733T>C NA O43202|Q9UQF9 hg19 CCDS6157.1 0.02 1.657635 TTTxAAC COVERED NOVEL LYPLA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378238.1 8 8.424919 KEEP 0 0 0 28 868 TT 0.999997 0.99755 0 - 8 60 249 0 0 17.873994 63 60 1811 148 ENST00000316963.3 0.112676 0.997553 NSMAF 8439 __UNKNOWN__ __UNKNOWN__ 8 59518394 59518394 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:59518394A>G ENST00000038176.3 - 12 1081 NSMAF_ENST00000519858.1_Intron|NSMAF_ENST00000427130.2_Intron NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor NA NA ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) cytoplasm (GO:0005737) receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) agccgagatcacgccactgca 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X96586 CCDS6173.1, CCDS47864.1 8q12-q13 2013-01-10 ENSG00000035681 ENSG00000035681 8439 WD repeat domain containing 8017 protein-coding gene gene with protein product 603043 NA 8808629, 10640829 Standard NM_003580 NM_003580 NA Approved FAN uc011lee.2 Q92636 OTTHUMG00000164352 ENST00000038176.3:c.868+91T>C chr8.hg19:g.59518394A>G NA B4DFB0|E9PCH0|Q8IW26 hg19 CCDS6173.1 0.02 -0.420913 ATCxCGC COVERED NOVEL NSMAF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378384.1 3 5.350548 KEEP 4 1 32 29 916 AA 0.999997 0.948399 0 - 4 60 127 0 0 8.919484 37 60 1085 92 ENST00000038176.3 0.097561 0.948402 NKAIN3 286183 __UNKNOWN__ __UNKNOWN__ 8 63296132 63296132 __UNKNOWN__ Intron SNP T T G rs10808724 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:63296132T>G ENST00000523211.1 + 1 186 NKAIN3_ENST00000328472.5_Intron|NKAIN3_ENST00000519049.1_Intron NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) ccttttggtttgaagaacatg 0.358 NA G||| 3545 0.707867 0.6664 0.781 5008 , , NA 19486 0.7123 NA 0.7416 False NA ,,, NA NA NA 2504 0.6728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK096949 CCDS55239.1 8q12.3 2014-08-12 2007-10-04 2007-10-04 ENSG00000185942 ENSG00000185942 286183 Na+/K+ transporting ATPase interacting 26829 protein-coding gene gene with protein product 612872 family with sequence similarity 77, member D FAM77D NA 17606467 Standard NM_173688 NM_173688 NA Approved FLJ39630 uc010lyq.1 Q8N8D7 OTTHUMG00000164361 ENST00000523211.1:c.54+134446T>G chr8.hg19:g.63296132T>G NA hg19 CCDS55239.1 0.02 -0.438552 GTTxGAA COVERED NOVEL NKAIN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378447.2 2 3.610463 KEEP 0 0 0 12 366 TT 0.994391 0.954475 0 + 3 60 102 0 0 6.706015 47 60 1430 100 ENST00000523211.1 0.06 0.959859 MTFR1 9650 __UNKNOWN__ __UNKNOWN__ 8 66601145 66601145 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:66601145T>C ENST00000262146.4 + 4 291 MTFR1_ENST00000458689.2_Intron|MTFR1_ENST00000517944.1_Intron NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 NA NA aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) tttgggaggctgaggcgggtg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6182.1, CCDS55240.1 8q13.1 2012-11-30 9650 29510 protein-coding gene gene with protein product likely ortholog of chicken chondrocyte protein with a poly proline region NA 7584026, 7584028, 15389597 Standard NM_014637 NM_014637 NA Approved CHPPR, KIAA0009, FAM54A2 uc003xvn.2 Q15390 ENST00000262146.4:c.166-4734T>C chr8.hg19:g.66601145T>C NA E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7 hg19 CCDS6182.1 0.02 -0.271899 GGCxGAG COVERED NOVEL MTFR1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378894.1 8 3.009294 KEEP 2 0 0 10 319 TT 0.99254 0.711964 0 + 3 60 99 0 0 7.192614 25 60 758 63 ENST00000262146.4 0.107143 0.717315 PDE7A 5150 __UNKNOWN__ __UNKNOWN__ 8 66650947 66650947 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:66650947T>C ENST00000401827.3 - 6 1039 PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000379419.4_Intron|PDE7A_ENST00000518667.1_Intron NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A NA NA cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165) cytosol (GO:0005829) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872) large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920) ggattacaggtgtgagccacc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L12052 CCDS34901.1, CCDS56538.1 8q13 2008-03-18 ENSG00000205268 5150 3.1.4.17 Phosphodiesterases 8791 protein-coding gene gene with protein product 171885 NA 8389765, 9521885 Standard NM_001242318 NA Approved HCP1 uc003xvq.3 Q13946 ENST00000401827.3:c.595+789A>G chr8.hg19:g.66650947T>C NA A0AVH6|A8K436|A8K9G5|O15380|Q96T72 hg19 CCDS56538.1 0.02 -0.210454 AGGxGTG COVERED NOVEL PDE7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378905.1 10 2.407537 KEEP 0 0 0 8 258 TT 0.99257 0.518282 0 - 3 60 94 0 0 7.093078 18 60 525 50 ENST00000401827.3 0.142857 0.522161 SGK3 23678 __UNKNOWN__ __UNKNOWN__ 8 67714821 67714821 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:67714821G>A ENST00000396596.1 + 4 394 C8orf44-SGK3_ENST00000519289.1_Intron|SGK3_ENST00000521198.2_Intron|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000345714.4_Intron|SGK3_ENST00000522398.1_Intron NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 NA NA ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768) ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) gctactcagggggctgagggg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6195.1, CCDS6196.1 8q12 2008-07-28 2005-09-13 2005-09-13 ENSG00000104205 23678 10812 protein-coding gene gene with protein product 607591 serum/glucocorticoid regulated kinase-like SGK2, SGKL NA 10585774, 10548550 Standard NM_013257 NA Approved uc003xwr.3 Q96BR1 ENST00000396596.1:c.181-1789G>A chr8.hg19:g.67714821G>A NA A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5 hg19 CCDS6195.1 0.02 -0.368441 AGGxGGC COVERED NOVEL SGK3-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379232.3 5 3.009815 KEEP 0 0 0 10 351 GG 0.992708 0.892756 0 + 4 60 119 0 0 8.16527 36 60 1223 77 ENST00000396596.1 0.1 0.899314 SGK3 23678 __UNKNOWN__ __UNKNOWN__ 8 67734947 67734947 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:67734947A>G ENST00000396596.1 + 6 631 C8orf44-SGK3_ENST00000519289.1_Intron|SGK3_ENST00000521198.2_Intron|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000345714.4_Intron|SGK3_ENST00000522398.1_Intron NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 NA NA ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768) ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) tccacctcccaggttcaagcg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6195.1, CCDS6196.1 8q12 2008-07-28 2005-09-13 2005-09-13 ENSG00000104205 23678 10812 protein-coding gene gene with protein product 607591 serum/glucocorticoid regulated kinase-like SGK2, SGKL NA 10585774, 10548550 Standard NM_013257 NA Approved uc003xwr.3 Q96BR1 ENST00000396596.1:c.417+253A>G chr8.hg19:g.67734947A>G NA A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5 hg19 CCDS6195.1 0.02 -0.149103 CCCxGGT UNCOVERED NOVEL SGK3-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379232.3 8 2.708389 KEEP 6 0 0 9 289 AA 0 0 0 + 3 60 90 0 0 7.172695 12 60 366 38 ENST00000396596.1 0.2 0.292001 CPA6 57094 __UNKNOWN__ __UNKNOWN__ 8 68348552 68348552 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:68348552C>T ENST00000297770.4 - 9 1054 CPA6_ENST00000297769.4_Intron NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 NA NA proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) CCCCAGGCTCCGGCCTTGTCA 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF221594 CCDS6200.1 8q12.3 2012-02-10 ENSG00000165078 ENSG00000165078 57094 17245 protein-coding gene gene with protein product 609562 NA 11836249 Standard NM_020361 NM_020361 NA Approved CPAH uc003xxq.4 Q8N4T0 OTTHUMG00000164575 ENST00000297770.4:c.839-2077G>A chr8.hg19:g.68348552C>T NA Q8NEX8|Q8TDE8|Q9NRI9 hg19 CCDS6200.1 0.02 -0.385912 CTCxGGC COVERED NOVEL CPA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379296.2 3 6.318976 KEEP 20 0 0 21 682 CC 0.999863 0.918045 0 - 11 60 325 0 0 27.130793 32 60 1016 112 ENST00000297770.4 0.255814 0.918171 PREX2 80243 __UNKNOWN__ __UNKNOWN__ 8 69011896 69011896 __UNKNOWN__ Intron SNP C C T rs138602313 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:69011896C>T ENST00000288368.4 + 23 2830 PREX2_ENST00000529398.1_Intron NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 NA NA adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 tgtgggtgtgcgtgtgtgttt 0.363 NA C||| 3 0.000599042 8e-04 0 5008 , , NA 17251 0 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 118 97 104 NA NA NA 8 NA NA 69011896 2203 4300 6503 SO:0001627 intron_variant AK024079 CCDS6201.1 8q13.1 2014-06-13 2008-09-15 2008-09-15 ENSG00000046889 ENSG00000046889 80243 Rho guanine nucleotide exchange factors 22950 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 129 612139 DEP domain containing 2 DEPDC2 NA 15304342, 15304343 Standard NM_025170 NM_024870 NA Approved DEP.2, FLJ12987, P-REX2, PPP1R129 uc003xxv.1 Q70Z35 OTTHUMG00000164402 ENST00000288368.4:c.2554-21C>T chr8.hg19:g.69011896C>T NA B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961 hg19 CCDS6201.1 0.02 2.646486 GTGxGTG COVERED NOVEL PREX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378620.1 34 5.626211 KEEP 1 6 183 83 2915 CC 1 1 0 + 12 60 355 1 2 24.297285 108 60 3596 352 ENST00000288368.4 0.1 1 RP11-664D7.4 0 __UNKNOWN__ __UNKNOWN__ 8 69217027 69217027 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:69217027A>G ENST00000512294.3 - 3 275 c.272T>C c.(271-273)tTt>tCt p.F91S RP11-664D7.4_ENST00000584858.1_5'UTR NA NA NA ctgggcaacaaagtgagaccc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000512294.3:c.272T>C chr8.hg19:g.69217027A>G ENSP00000427961:p.Phe91Ser NA hg19 0.02 3.575824 ACAxAGT COVERED . . . . . . . . . . A 0.683 -0.797624 0.02862 . . ENSG00000248801 ENST00000512294 . . . 0.149 0.149 0.14863 . . . . . T 0.29458 0.0734 . . . 0.09310 N 1 . . . . . . T 0.26503 -1.0101 3 . . . . . . . . . . . S 91 . . F - 2 0 RP11-664D7.4 69379581 0.006000 0.16342 0.022000 0.16811 0.022000 0.10575 -0.603000 0.05674 0.166000 0.19597 0.164000 0.16699 TTT NOVEL RP11-664D7.4-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000378853.2 17 13.454003 KEEP 0 1 32 56 1733 AA 1 1 0 - 8 60 275 0 1 18.163715 126 60 3668 278 ENST00000512294.3 0.059701 1 RP11-600K15.1 0 __UNKNOWN__ __UNKNOWN__ 8 69885399 69885399 __UNKNOWN__ lincRNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:69885399C>T ENST00000518540.1 - 0 415 NR_039986.1 NA NA NA atgacattaccttgtgaaagt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000518540.1: chr8.hg19:g.69885399C>T NA hg19 0.02 -0.394765 TACxTTG COVERED NOVEL RP11-600K15.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000378873.1 4 4.81568 KEEP 59 0 0 16 568 CC 0.99257 0.919755 0 - 4 20 122 0 0 8.291179 40 42 1376 167 ENST00000518540.1 0.090909 0.92664 RP11-600K15.1 0 __UNKNOWN__ __UNKNOWN__ 8 69890726 69890726 __UNKNOWN__ lincRNA SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:69890726G>C ENST00000518540.1 - 0 415 NR_039986.1 NA NA NA cttgccttaagtgatgacatt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000518540.1: chr8.hg19:g.69890726G>C NA hg19 0.02 -0.403549 TAAxTGA COVERED NOVEL RP11-600K15.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000378873.1 2 3.611894 KEEP 0 0 0 12 434 GG 0.993634 0.928543 0 - 3 49 102 0 0 6.817406 43 60 1492 84 ENST00000518540.1 0.065217 0.934492 SLCO5A1 81796 __UNKNOWN__ __UNKNOWN__ 8 70602442 70602442 __UNKNOWN__ Intron SNP T T G rs3088185 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:70602442T>G ENST00000524945.1 - 6 2339 SLCO5A1_ENST00000260126.4_Intron|SLCO5A1_ENST00000530307.1_Intron NM_001146008.1 NP_001139480.1 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) gtagggacagtgggaatctcg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF205075 CCDS6205.1, CCDS55242.1, CCDS55243.1 8q13.1 2013-05-22 2003-11-25 2003-11-26 ENSG00000137571 ENSG00000137571 81796 Solute carriers 19046 protein-coding gene gene with protein product 613543 solute carrier family 21 (organic anion transporter), member 15 SLC21A15 NA 12507753 Standard NM_030958 NM_030958 NA Approved OATPRP4, OATP-J, OATP5A1 uc003xyl.3 Q9H2Y9 OTTHUMG00000165121 ENST00000524945.1:c.1623-7864A>C chr8.hg19:g.70602442T>G NA A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0 hg19 CCDS55243.1 0.02 25.57819 CAGxGGG COVERED NOVEL SLCO5A1-004 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000381991.1 4 16.381914 KEEP 1 1 39 68 2112 TT 1 1 0 - 22 60 742 0 0 41.68183 723 60 21412 1079 ENST00000524945.1 0.02953 1 PRDM14 63978 __UNKNOWN__ __UNKNOWN__ 8 70964201 70964201 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:70964201A>G ENST00000276594.2 - 0 2028 NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 NA NA cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) tagagacaggatttcaccatg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(129;99 1813 5906 40656 46114) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF319458 CCDS6206.1 8q13.3 2013-01-08 ENSG00000147596 ENSG00000147596 63978 Zinc fingers, C2H2-type 14001 protein-coding gene gene with protein product 611781 NA Standard NM_024504 NA Approved uc003xym.3 Q9GZV8 OTTHUMG00000150495 ENST00000276594.2:c.*111T>C chr8.hg19:g.70964201A>G NA Q86UX9 hg19 CCDS6206.1 0.02 1.696576 AGGxTTT COVERED NOVEL PRDM14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318505.1 7 7.219701 KEEP 1 0 0 24 716 AA 0.999909 0.999019 0 - 4 60 135 0 0 8.68152 69 60 1910 121 ENST00000276594.2 0.054795 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 71333528 71333528 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:71333528G>A NA NA NCOA2 (17488 upstream) : Metazoa_SRP (49818 downstream) NA NA NA gctcacgcctgtaatcccagc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.71333528G>A NA hg19 0.02 -0.087686 CCTxTAA UNCOVERED NOVEL 0 8 2.407709 KEEP 0 0 0 8 276 GG 0.99257 0.09898 0 3 60 78 0 0 6.741489 6 60 203 20 0.333333 0.099721 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74564665 74564665 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:74564665A>G ENST00000521451.1 - 2 102 STAU2_ENST00000523558.1_Intron|STAU2_ENST00000524104.1_3'UTR|STAU2_ENST00000524300.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000522695.1_Intron|STAU2_ENST00000355780.5_Intron|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000519961.1_Intron|STAU2_ENST00000522509.1_Intron Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) ATTTCTggccaggcgcggtgg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1:c.275-34979T>C chr8.hg19:g.74564665A>G NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 1.716483 GCCxGGC COVERED NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 7 4.138194 KEEP 0 1 35 26 746 AA 0.999988 0.999756 0 - 4 60 137 0 0 8.650967 79 60 2348 152 ENST00000521451.1 0.048193 0.999768 TMEM70 54968 __UNKNOWN__ __UNKNOWN__ 8 74891309 74891309 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:74891309T>C ENST00000312184.5 + 2 389 TMEM70_ENST00000517439.1_Intron NM_001040613.2|NM_017866.5 NP_001035703.1|NP_060336.3 Q9BUB7 TMM70_HUMAN transmembrane protein 70 NA NA mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615) integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743) breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) cactctgttgtccaggctgga 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC002748 CCDS6215.1, CCDS47876.1 8q21.11 2013-05-23 ENSG00000175606 54968 26050 protein-coding gene gene with protein product 612418 NA 21945727, 22986587 Standard NM_017866 NM_017866 NA Approved FLJ20533 uc003yab.3 Q9BUB7 ENST00000312184.5:c.316+213T>C chr8.hg19:g.74891309T>C NA E9PDY9|Q9NWY5 hg19 CCDS6215.1 0.02 3.751045 TTGxCCA COVERED NOVEL TMEM70-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379028.1 21 3.746767 KEEP 0 1 36 25 790 TT 0.999957 0.999955 0 + 13 60 426 0 0 32.339136 82 70 2411 187 ENST00000312184.5 0.136842 0.999998 CRISPLD1 83690 __UNKNOWN__ __UNKNOWN__ 8 75928785 75928785 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:75928785T>G ENST00000262207.4 + 7 1195 CRISPLD1_ENST00000517786.1_Intron|CRISPLD1_ENST00000523524.1_Intron NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 NA NA face morphogenesis (GO:0060325) extracellular vesicular exosome (GO:0070062) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) TTCCTAAATCTGCTTTCTCTA 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 86 90 89 NA NA NA 8 NA NA 75928785 2203 4300 6503 SO:0001627 intron_variant AL834301 CCDS6219.1, CCDS69497.1, CCDS75754.1 8q21.13 2005-09-23 2005-02-16 2005-02-16 ENSG00000121005 ENSG00000121005 83690 18206 protein-coding gene gene with protein product LCCL domain containing cysteine-rich secretory protein 1 LCRISP1 NA Standard NM_031461 NM_031461 NA Approved Cocoacrisp, DKFZp762F133 uc003yan.3 Q9H336 OTTHUMG00000164529 ENST00000262207.4:c.728-15T>G chr8.hg19:g.75928785T>G NA B2RA60|B7Z929 hg19 CCDS6219.1 0.02 1.941745 ATCxGCT COVERED NOVEL CRISPLD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379117.1 1 9.627372 KEEP 0 0 0 32 972 TT 0.999997 0.963771 0 + 7 60 223 0 0 16.788822 44 60 1237 101 ENST00000262207.4 0.137255 0.963774 ZFHX4 79776 __UNKNOWN__ __UNKNOWN__ 8 77690746 77690746 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:77690746A>C ENST00000521891.2 + 4 3773 ZFHX4_ENST00000518282.1_Intron|ZFHX4_ENST00000050961.6_Intron|ZFHX4_ENST00000455469.2_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) cacacacacaaacacacacac 0.488 NA HNSCC(33;0.089) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47878.1, CCDS47878.2 8q21.11 2012-07-02 2007-07-16 ENSG00000091656 ENSG00000091656 79776 Homeoboxes / ZF class 30939 protein-coding gene gene with protein product 606940 zinc finger homeodomain 4 NA 10873665, 11935336 Standard NM_024721 NM_024721 NA Approved ZFH4, FLJ20980 uc003yau.2 Q86UP3 OTTHUMG00000164557 ENST00000521891.2:c.3325+71A>C chr8.hg19:g.77690746A>C NA G3V138|Q18PS0|Q6ZN20 hg19 CCDS47878.2 0.02 -0.306815 ACAxACA COVERED NOVEL ZFHX4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000379197.2 2 6.014135 KEEP 0 0 0 20 552 AA 0.999863 0.818352 0 + 6 60 206 1 0 16.670873 27 60 706 64 ENST00000521891.2 0.181818 0.818465 MRPS28 28957 __UNKNOWN__ __UNKNOWN__ 8 80940985 80940985 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:80940985A>G ENST00000276585.4 - 1 236 TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000522987.1_Intron|MRPS28_ENST00000521605.1_Intron|MRPS28_ENST00000521434.1_Missense_Mutation_p.V11A NM_014018.2 NP_054737.1 Q9Y2Q9 RT28_HUMAN mitochondrial ribosomal protein S28 NA NA mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06) BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805) gatcacttgaacccaggagtt 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB061209 CCDS6226.1 8q21.1-q21.2 2012-09-13 ENSG00000147586 ENSG00000147586 28957 Mitochondrial ribosomal proteins / small subunits 14513 protein-coding gene gene with protein product 611990 NA 11279123, 11042152 Standard NM_014018 NM_014018 NA Approved MRP-S28, HSPC007, MRPS35 uc003ybp.3 Q9Y2Q9 OTTHUMG00000164642 ENST00000276585.4:c.213+1285T>C chr8.hg19:g.80940985A>G NA B2RDZ7|Q96Q21 hg19 CCDS6226.1 0.02 4.167385 TGAxCCC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. a|a 0.017|0.017 -1.507419|-1.507419 0.00984|0.00984 .|. .|. ENSG00000147586|ENSG00000147586 ENST00000518271|ENST00000521434;ENST00000520946 .|T;T .|0.26373 .|1.74;1.74 0.813|0.813 -1.63|-1.63 0.08345|0.08345 .|. .|. .|. .|. .|. T|T 0.21022|0.21022 0.0506|0.0506 .|. .|. .|. 0.09310|0.09310 N|N 1|1 .|. .|. .|. .|. .|. .|. T|T 0.23904|0.23904 -1.0175|-1.0175 4|6 .|0.48119 .|T .|0.1 .|. 4.9605|4.9605 0.14063|0.14063 0.7482:0.0:0.2518:0.0|0.7482:0.0:0.2518:0.0 .|. .|. .|. .|. L|A 76|11 .|ENSP00000428880:V11A;ENSP00000430401:V11A .|ENSP00000430401:V11A F|V -|- 1|2 0|0 MRPS28|MRPS28 81103540|81103540 0.000000|0.000000 0.05858|0.05858 0.005000|0.005000 0.12908|0.12908 0.028000|0.028000 0.11728|0.11728 -1.097000|-1.097000 0.03349|0.03349 -1.402000|-1.402000 0.02056|0.02056 -1.957000|-1.957000 0.00481|0.00481 TTC|GTT NOVEL MRPS28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379526.1 6 9.328945 KEEP 3 0 0 31 1017 AA 0.999997 0.999994 0 - 7 60 223 1 0 14.510253 97 60 2885 167 ENST00000276585.4 0.067308 0.999997 MRPS28 28957 __UNKNOWN__ __UNKNOWN__ 8 80941010 80941010 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:80941010G>C ENST00000276585.4 - 1 236 TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000522987.1_Intron|MRPS28_ENST00000521605.1_Intron|MRPS28_ENST00000521434.1_Missense_Mutation_p.P3A NM_014018.2 NP_054737.1 Q9Y2Q9 RT28_HUMAN mitochondrial ribosomal protein S28 NA NA mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06) BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805) accagcctgggcaacatggca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB061209 CCDS6226.1 8q21.1-q21.2 2012-09-13 ENSG00000147586 ENSG00000147586 28957 Mitochondrial ribosomal proteins / small subunits 14513 protein-coding gene gene with protein product 611990 NA 11279123, 11042152 Standard NM_014018 NM_014018 NA Approved MRP-S28, HSPC007, MRPS35 uc003ybp.3 Q9Y2Q9 OTTHUMG00000164642 ENST00000276585.4:c.213+1260C>G chr8.hg19:g.80941010G>C NA B2RDZ7|Q96Q21 hg19 CCDS6226.1 0.02 7.891795 TGGxCAA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 0.199|0.199 -1.046690|-1.046690 0.01997|0.01997 .|. .|. ENSG00000147586|ENSG00000147586 ENST00000518271|ENST00000521434;ENST00000520946 .|T;T .|0.46063 .|0.88;0.88 0.235|0.235 0.235|0.235 0.15431|0.15431 .|. .|. .|. .|. .|. T|T 0.37972|0.37972 0.1023|0.1023 .|. .|. .|. 0.09310|0.09310 N|N 1|1 .|. .|. .|. .|. .|. .|. T|T 0.35475|0.35475 -0.9787|-0.9787 3|5 .|0.56958 .|D .|0.05 .|. .|. .|. .|. .|. .|. .|. .|. W|A 67|3 .|ENSP00000428880:P3A;ENSP00000430401:P3A .|ENSP00000430401:P3A C|P -|- 3|1 2|0 MRPS28|MRPS28 81103565|81103565 0.002000|0.002000 0.14202|0.14202 0.020000|0.020000 0.16555|0.16555 0.184000|0.184000 0.23303|0.23303 -0.080000|-0.080000 0.11339|0.11339 0.308000|0.308000 0.22923|0.22923 0.313000|0.313000 0.20887|0.20887 TGC|CCC NOVEL MRPS28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379526.1 19 8.164412 KEEP 2 2 71 52 1824 GG 1 1 0 - 7 60 241 2 0 14.634609 171 60 5681 360 ENST00000276585.4 0.039326 1 RP11-941H19.3 0 __UNKNOWN__ __UNKNOWN__ 8 81194094 81194094 __UNKNOWN__ lincRNA SNP G G A rs528786244 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:81194094G>A ENST00000522044.1 + 0 218 NA NA NA cactgtgcccggccTAtttat 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000522044.1: chr8.hg19:g.81194094G>A NA hg19 0.02 -0.280705 CCCxGCC COVERED NOVEL RP11-941H19.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000379180.1 3 2.407862 KEEP 4 0 0 8 282 GG 0.99257 0.755234 0 + 3 60 93 0 0 6.592941 25 60 824 67 ENST00000522044.1 0.107143 0.760887 RP11-941H19.3 0 __UNKNOWN__ __UNKNOWN__ 8 81223084 81223084 __UNKNOWN__ lincRNA SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:81223084T>G ENST00000522044.1 + 0 404 NA NA NA ctcccaaagttctgggattac 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000522044.1: chr8.hg19:g.81223084T>G NA hg19 0.02 -0.271119 AGTxCTG COVERED NOVEL RP11-941H19.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000379180.1 10 3.310162 KEEP 1 0 0 11 351 TT 0.993072 0.734547 0 + 3 60 91 1 0 6.612115 21 60 589 65 ENST00000522044.1 0.125 0.739671 RP11-941H19.3 0 __UNKNOWN__ __UNKNOWN__ 8 81226183 81226183 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:81226183A>G ENST00000522044.1 + 0 404 NA NA NA gtgagaacatacagtatttgg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000522044.1: chr8.hg19:g.81226183A>G NA hg19 0.02 -0.201691 CATxCAG COVERED NOVEL RP11-941H19.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000379180.1 4 2.707779 KEEP 0 0 0 9 272 AA 0.99254 0.486885 0 + 4 60 135 0 0 10.96926 17 60 462 44 ENST00000522044.1 0.190476 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 81501811 81501811 __UNKNOWN__ IGR SNP C C T rs11775335 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:81501811C>T NA NA RNU2-71P (3803 upstream) : RN7SL107P (23967 downstream) NA NA NA ggattacaggcgtgagccacc 0.488 NA C||| 1328 0.265176 0.0877 0.4179 5008 , , NA 17269 0.2698 NA 0.33 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.81501811C>T NA hg19 0.02 -0.210496 AGGxGTG UNCOVERED NOVEL 0 11 2.345091 KEEP 7 0 0 8 239 CC 0 0 0 3 60 89 1 0 6.52789 19 60 605 44 0.136364 0.522161 ZNF704 619279 __UNKNOWN__ __UNKNOWN__ 8 81544633 81544633 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:81544633C>T ENST00000327835.3 - 0 10438 NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 NA NA metal ion binding (GO:0046872) lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) cctctgttggccaggctggtc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131274 CCDS34913.1 8q21.13 2008-05-02 ENSG00000164684 ENSG00000164684 619279 32291 protein-coding gene gene with protein product NA Standard NM_001033723 NM_001033723 NA Approved FLJ16218, Gig1 uc003yby.2 Q6ZNC4 OTTHUMG00000164733 ENST00000327835.3:c.*8968G>A chr8.hg19:g.81544633C>T NA B2RNE6|B9EGW6 hg19 CCDS34913.1 0.02 1.271831 TGGxCAG COVERED NOVEL ZNF704-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379964.2 11 6.01976 KEEP 0 0 0 20 716 CC 0.999863 0.99935 0 - 5 60 143 0 0 8.732901 70 60 2322 135 ENST00000327835.3 0.066667 0.999487 ZNF704 619279 __UNKNOWN__ __UNKNOWN__ 8 81544701 81544701 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:81544701T>C ENST00000327835.3 - 0 10370 NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 NA NA metal ion binding (GO:0046872) lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) gctgggattataggcgtgaac 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131274 CCDS34913.1 8q21.13 2008-05-02 ENSG00000164684 ENSG00000164684 619279 32291 protein-coding gene gene with protein product NA Standard NM_001033723 NM_001033723 NA Approved FLJ16218, Gig1 uc003yby.2 Q6ZNC4 OTTHUMG00000164733 ENST00000327835.3:c.*8900A>G chr8.hg19:g.81544701T>C NA B2RNE6|B9EGW6 hg19 CCDS34913.1 0.02 1.774817 TTAxAGG COVERED NOVEL ZNF704-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379964.2 9 3.610674 KEEP 0 0 0 12 368 TT 0.993634 0.990378 0 - 4 60 135 0 0 8.833048 63 60 1761 113 ENST00000327835.3 0.059701 0.996724 ATP6V0D2 245972 __UNKNOWN__ __UNKNOWN__ 8 87165854 87165854 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:87165854T>C ENST00000285393.3 + 0 1843 CTD-3118D11.2_ENST00000522679.1_RNA|CTD-3118D11.2_ENST00000524253.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) hydrogen ion transmembrane transporter activity (GO:0015078) breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 tcccaaagtgttgggattaca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY079172 CCDS6241.1 8q21.3 2014-01-28 2006-01-20 2002-05-24 ENSG00000147614 ENSG00000147614 245972 ATPases / V-type 18266 protein-coding gene gene with protein product ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2, ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2, ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2 NA 12384298 Standard NM_152565 NM_152565 NA Approved FLJ38708, VMA6, ATP6D2 uc003ydp.1 Q8N8Y2 OTTHUMG00000163637 ENST00000285393.3:c.*648T>C chr8.hg19:g.87165854T>C NA hg19 CCDS6241.1 0.02 5.889542 GTGxTGG COVERED NOVEL ATP6V0D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374651.1 21 11.497144 KEEP 1 2 71 63 1920 TT 1 1 0 + 11 60 376 0 0 25.020185 164 60 4717 348 ENST00000285393.3 0.062857 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 87831193 87831193 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:87831193A>G NA NA RP11-386D6.2 (407 upstream) : CNBD1 (47479 downstream) NA NA NA gtgaaaccccatctctactaa 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.87831193A>G NA hg19 0.02 -0.113987 CCCxTCT UNCOVERED NOVEL 0 4 2.707895 KEEP 2 0 0 9 276 AA 0.99257 0.16126 0 3 60 87 0 1 7.201682 9 60 247 27 0.25 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 90901111 90901111 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:90901111A>G NA NA RIPK2 (97820 upstream) : RNU6-925P (11837 downstream) NA NA NA gagccaccgcacccagccctg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.90901111A>G NA hg19 0.02 -0.368289 CGCxCCC COVERED NOVEL 0 9 2.406475 KEEP 0 0 0 8 232 AA 0.99257 0.892632 0 3 60 104 0 0 7.2755 35 60 991 65 0.078947 0.899314 LRRC69 100130742 __UNKNOWN__ __UNKNOWN__ 8 92130470 92130470 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:92130470T>C ENST00000448384.2 + 2 183 LRRC69_ENST00000343709.3_Intron NM_001129890.1 NP_001123362.1 Q6ZNQ3 LRC69_HUMAN leucine rich repeat containing 69 NA NA endometrium(1) 1 cggtggctcatgcctgtaatc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK130865 8q21.3 2010-07-14 ENSG00000214954 ENSG00000214954 100130742 34303 protein-coding gene gene with protein product NA Standard NM_001129890 NM_001129890 NA Approved uc010mal.1 Q6ZNQ3 OTTHUMG00000164023 ENST00000448384.2:c.184-6251T>C chr8.hg19:g.92130470T>C NA hg19 0.02 3.405984 TCAxGCC COVERED NOVEL LRRC69-007 NOVEL not_organism_supported|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000415207.1 15 6.957073 KEEP 1 1 37 36 1135 TT 1 1 0 + 6 60 199 0 0 12.254094 122 60 3570 242 ENST00000448384.2 0.046875 1 TMEM67 91147 __UNKNOWN__ __UNKNOWN__ 8 94770820 94770820 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:94770820C>A ENST00000453321.3 + 3 464 TMEM67_ENST00000409623.3_Intron NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 NA NA cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826) centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038) filamin binding (GO:0031005)|unfolded protein binding (GO:0051082) breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AATTAGATTCCTTATAAAGAA 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 85 86 85 NA NA NA 8 NA NA 94770820 2203 4300 6503 SO:0001627 intron_variant BX648768 CCDS6258.2, CCDS47893.1 8q22.1 2014-09-17 ENSG00000164953 ENSG00000164953 91147 28396 protein-coding gene gene with protein product Meckelin 609884 Meckel syndrome, type 3 MKS3 NA 12384791, 16415887, 19508969 Standard NM_153704 NM_153704 NA Approved MGC26979, JBTS6, NPHP11 uc011lgk.2 Q5HYA8 OTTHUMG00000153119 ENST00000453321.3:c.406+16C>A chr8.hg19:g.94770820C>A NA B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06 hg19 CCDS6258.2 0.02 3.285769 TTCxTTA COVERED NOVEL TMEM67-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329641.2 3 29.189138 KEEP 0 0 0 97 3487 CC 1 0.999973 0 + 33 60 968 0 0 84.999279 67 60 2306 268 ENST00000453321.3 0.33 0.999973 TMEM67 91147 __UNKNOWN__ __UNKNOWN__ 8 94775173 94775173 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:94775173A>G ENST00000453321.3 + 4 464 TMEM67_ENST00000409623.3_Intron NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 NA NA cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826) centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038) filamin binding (GO:0031005)|unfolded protein binding (GO:0051082) breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) tgttttttgaaacagggtctc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648768 CCDS6258.2, CCDS47893.1 8q22.1 2014-09-17 ENSG00000164953 ENSG00000164953 91147 28396 protein-coding gene gene with protein product Meckelin 609884 Meckel syndrome, type 3 MKS3 NA 12384791, 16415887, 19508969 Standard NM_153704 NM_153704 NA Approved MGC26979, JBTS6, NPHP11 uc011lgk.2 Q5HYA8 OTTHUMG00000153119 ENST00000453321.3:c.407-897A>G chr8.hg19:g.94775173A>G NA B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06 hg19 CCDS6258.2 0.02 3.959232 TGAxACA COVERED NOVEL TMEM67-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329641.2 14 7.855042 KEEP 0 1 34 38 1169 AA 1 0.999997 0 + 6 60 206 1 1 13.356507 104 60 3026 220 ENST00000453321.3 0.054545 0.999997 RP11-267M23.4 0 __UNKNOWN__ __UNKNOWN__ 8 95577659 95577659 __UNKNOWN__ lincRNA SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:95577659C>G ENST00000523011.1 + 0 186 NA NA NA aggtgacagaccaagactcca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000523011.1: chr8.hg19:g.95577659C>G NA hg19 0.02 -0.324577 AGAxCAA COVERED NOVEL RP11-267M23.4-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000378866.1 3 2.40743 KEEP 0 0 0 8 263 CC 0.99257 0.829507 0 + 3 60 106 0 0 7.666554 30 60 993 53 ENST00000523011.1 0.090909 0.835716 KB-1047C11.2 0 __UNKNOWN__ __UNKNOWN__ 8 96600459 96600459 __UNKNOWN__ lincRNA SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:96600459T>A ENST00000521905.1 + 0 281 NA NA NA cctgtgtccatgtgttctcat 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000521905.1: chr8.hg19:g.96600459T>A NA hg19 0.02 -0.175391 CCAxGTG UNCOVERED NOVEL KB-1047C11.2-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000379669.1 12 2.407018 KEEP 7 0 0 8 242 TT 0 0 0 + 5 40 149 0 0 12.530984 14 60 398 43 ENST00000521905.1 0.263158 0.387407 KB-1047C11.2 0 __UNKNOWN__ __UNKNOWN__ 8 96647018 96647018 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:96647018T>C ENST00000521905.1 + 0 320 NA NA NA gcctgtaatctcagcacttcg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000521905.1: chr8.hg19:g.96647018T>C NA hg19 0.02 -0.166609 ATCxCAG COVERED NOVEL KB-1047C11.2-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000379669.1 4 2.708227 KEEP 0 0 0 9 286 TT 0.99254 0.351306 0 + 3 60 93 0 0 7.379543 13 60 380 38 ENST00000521905.1 0.1875 0.353947 PTDSS1 9791 __UNKNOWN__ __UNKNOWN__ 8 97343482 97343482 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:97343482A>G ENST00000517309.1 + 12 1638 PTDSS1_ENST00000522072.1_Intron|PTDSS1_ENST00000455950.2_Intron NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity (GO:0016740) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) ATggctgggcacggtggctca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D14694 CCDS6271.1 8q22 2008-05-02 ENSG00000156471 ENSG00000156471 9791 9587 protein-coding gene gene with protein product 612792 NA Standard NM_014754 NA Approved KIAA0024, PSSA, PSS1 uc003yht.1 P48651 OTTHUMG00000164687 ENST00000517309.1:c.1312+159A>G chr8.hg19:g.97343482A>G NA E5RFC5|Q9BUQ5 hg19 CCDS6271.1 0.02 -0.315697 GGCxCGG COVERED NOVEL PTDSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379743.2 4 2.706823 KEEP 0 0 0 9 260 AA 0.99254 0.812359 0 + 3 60 94 0 0 6.350839 33 60 941 58 ENST00000517309.1 0.083333 0.818465 PTDSS1 9791 __UNKNOWN__ __UNKNOWN__ 8 97343554 97343554 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:97343554G>A ENST00000517309.1 + 12 1638 PTDSS1_ENST00000522072.1_Intron|PTDSS1_ENST00000455950.2_Intron NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity (GO:0016740) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) tcaggagttcgagaccagcct 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D14694 CCDS6271.1 8q22 2008-05-02 ENSG00000156471 ENSG00000156471 9791 9587 protein-coding gene gene with protein product 612792 NA Standard NM_014754 NA Approved KIAA0024, PSSA, PSS1 uc003yht.1 P48651 OTTHUMG00000164687 ENST00000517309.1:c.1312+231G>A chr8.hg19:g.97343554G>A NA E5RFC5|Q9BUQ5 hg19 CCDS6271.1 0.02 -0.149117 TTCxAGA COVERED NOVEL PTDSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379743.2 2 2.395557 KEEP 0 0 0 8 252 GG 0.99257 0.289832 0 + 3 60 90 0 0 7.079047 13 60 422 35 ENST00000517309.1 0.1875 0.292001 MTDH 92140 __UNKNOWN__ __UNKNOWN__ 8 98668820 98668820 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:98668820T>C ENST00000519934.1 + 2 342 MTDH_ENST00000336273.3_Intron Q86UE4 LYRIC_HUMAN metadherin NA NA lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923) double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) tgagccaccgtgcccggccTA 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF411226 CCDS6274.1 8q22.1 2014-07-14 ENSG00000147649 ENSG00000147649 92140 29608 protein-coding gene gene with protein product astrocyte elevated gene 1 610323 NA 15093543 Standard NM_178812 NA Approved LYRIC, 3D3, AEG-1 uc003yhz.3 Q86UE4 OTTHUMG00000164692 ENST00000519934.1:c.313-4480T>C chr8.hg19:g.98668820T>C NA Q05DH2|Q52QU9|Q6PK07|Q8TCX3 hg19 0.02 -0.236782 CCGxGCC COVERED NOVEL MTDH-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379773.2 7 2.708281 KEEP 4 0 0 9 285 TT 0.99254 0.607839 0 + 4 41 121 0 0 9.314316 20 60 575 51 ENST00000519934.1 0.166667 0.612407 MATN2 4147 __UNKNOWN__ __UNKNOWN__ 8 99037957 99037957 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:99037957C>G ENST00000521689.1 + 14 2416 MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Intron|RPL30_ENST00000518164.1_5'UTR|MATN2_ENST00000524308.1_Intron|MATN2_ENST00000520016.1_Intron O00339 MATN2_HUMAN matrilin 2 NA NA proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) ctgggcgacacagcaagactc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U69263 CCDS55264.1, CCDS55265.1 8q22.1-q22.2 2008-05-15 4147 6908 protein-coding gene gene with protein product 602108 NA 9083061, 11852232 Standard XM_005250920 NA Approved uc003yic.3 O00339 ENST00000521689.1:c.1943-1687C>G chr8.hg19:g.99037957C>G NA A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1 hg19 CCDS55265.1 0.02 1.695899 ACAxAGC COVERED NOVEL MATN2-001 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000380327.1 16 7.825123 KEEP 0 0 0 26 918 CC 0.999957 0.999274 0 + 8 60 273 1 1 20.163496 65 60 2177 128 ENST00000521689.1 0.109589 0.999317 MATN2 4147 __UNKNOWN__ __UNKNOWN__ 8 99037968 99037968 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:99037968T>C ENST00000521689.1 + 14 2416 MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Intron|RPL30_ENST00000518164.1_Splice_Site|MATN2_ENST00000524308.1_Intron|MATN2_ENST00000520016.1_Intron O00339 MATN2_HUMAN matrilin 2 NA NA proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) agcaagactctgtctcaaaaa 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U69263 CCDS55264.1, CCDS55265.1 8q22.1-q22.2 2008-05-15 4147 6908 protein-coding gene gene with protein product 602108 NA 9083061, 11852232 Standard XM_005250920 NA Approved uc003yic.3 O00339 ENST00000521689.1:c.1943-1676T>C chr8.hg19:g.99037968T>C NA A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1 hg19 CCDS55265.1 0.02 1.681443 CTCxGTC COVERED NOVEL MATN2-001 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000380327.1 21 9.326862 KEEP 0 0 0 31 953 TT 0.999997 0.999878 0 + 5 60 164 0 1 10.481647 82 60 2404 150 ENST00000521689.1 0.057471 0.999881 VPS13B 157680 __UNKNOWN__ __UNKNOWN__ 8 100883591 100883591 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:100883591T>A ENST00000358544.2 + 61 11681 VPS13B_ENST00000395996.1_Intron|VPS13B_ENST00000357162.2_Intron NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) NA NA protein transport (GO:0015031) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTTGTGGAGGTTGCCCCATTG 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(161;2205 2542 7338 31318) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ608772 CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1 8q22-q23 2014-09-17 2006-12-19 2005-04-08 ENSG00000132549 ENSG00000132549 157680 2183 protein-coding gene gene with protein product 607817 Cohen syndrome 1 CHS1, COH1 NA 7920642, 15498460 Standard NM_184042 NM_181661 NA Approved uc003yiv.4 Q7Z7G8 OTTHUMG00000140383 ENST00000358544.2:c.11571-85T>A chr8.hg19:g.100883591T>A NA C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7 hg19 CCDS6280.1 0.02 -0.175395 AGGxTGC COVERED NOVEL VPS13B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000277138.1 2 4.512574 KEEP 0 0 0 15 452 TT 0.99649 0.386047 0 + 5 60 149 0 0 12.402315 15 60 431 47 ENST00000358544.2 0.25 0.387407 RGS22 26166 __UNKNOWN__ __UNKNOWN__ 8 101066576 101066576 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:101066576T>C ENST00000523437.1 - 10 1519 RGS22_ENST00000360863.6_Intron|RGS22_ENST00000523287.1_Intron Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 NA NA positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) aatcccagtattttgggaagc 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY009106 CCDS43758.1, CCDS69521.1, CCDS75775.1 8q22.2 2014-01-21 2007-08-14 ENSG00000132554 ENSG00000132554 26166 Regulators of G-protein signaling 24499 protein-coding gene gene with protein product 615650 regulator of G-protein signalling 22 NA Standard NM_015668 XM_005250856 NA Approved DKFZP434I092, PRTD-NY2, CT145 uc003yjb.1 Q8NE09 OTTHUMG00000164802 ENST00000523437.1:c.1479-1372A>G chr8.hg19:g.101066576T>C NA A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6 hg19 0.02 -0.306722 GTAxTTT COVERED NOVEL RGS22-006 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000380369.1 5 3.309072 KEEP 0 0 0 11 326 TT 0.993072 0.812795 0 - 5 60 164 2 0 12.694968 28 60 770 62 ENST00000523437.1 0.151515 0.818465 PABPC1 26986 __UNKNOWN__ __UNKNOWN__ 8 101717832 101717832 __UNKNOWN__ Missense_Mutation SNP G G C rs75035099 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:101717832G>C ENST00000318607.5 - 12 2800 c.1672C>G c.(1672-1674)Caa>Gaa p.Q558E PABPC1_ENST00000519004.1_Missense_Mutation_p.Q513E|PABPC1_ENST00000522387.1_Missense_Mutation_p.Q526E NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 558 PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}. NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494) breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) ATTTGCTTTTGCTCTTGAGGA 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 59 51 54 NA NA NA 8 NA NA 101717832 2203 4300 6503 SO:0001583 missense Y00345 CCDS6289.1 8q22.2-q23 2013-02-12 2004-04-20 ENSG00000070756 ENSG00000070756 26986 RNA binding motif (RRM) containing 8554 protein-coding gene gene with protein product 604679 poly(A)-binding protein, cytoplasmic 2 PAB1, PABPC2 NA 2885805 Standard NM_002568 XM_005250861 NA Approved PABP1, PABPL1 uc003yjs.1 P11940 OTTHUMG00000164779 ENST00000318607.5:c.1672C>G chr8.hg19:g.101717832G>C ENSP00000313007:p.Gln558Glu NA Q15097|Q93004 hg19 CCDS6289.1 0.02 1.865407 TTTxCTC COVERED 245|245 0.11217948717948718|0.11217948717948718 94|94 0.1910569105691057|0.1910569105691057 30|30 0.08287292817679558|0.08287292817679558 48|48 0.08391608391608392|0.08391608391608392 73|73 0.09630606860158311|0.09630606860158311 G|G 28.4|28.4 4.918584|4.918584 0.92249|0.92249 .|. .|. ENSG00000070756|ENSG00000070756 ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658|ENST00000520868 T;T;T;T;T|. 0.55760|. 0.5;0.5;0.5;0.5;0.5|. 5.75|5.75 5.75|5.75 0.90469|0.90469 Polyadenylate-binding protein/Hyperplastic disc protein (5);|. 0.000000|. 0.64402|. D|. 0.000007|. T|T 0.00724|0.00724 0.0024|0.0024 H|H 0.94183|0.94183 3.505|3.505 0.80722|0.80722 D|D 1|1 D;P;B|. 0.63880|. 0.993;0.573;0.316|. D;P;P|. 0.71414|. 0.973;0.453;0.453|. T|T 0.43048|0.43048 -0.9415|-0.9415 10|5 0.87932|. D|. 0|. .|. 19.907|19.907 0.97012|0.97012 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 526;558;558|. E7ERJ7;B3KT93;P11940|. .;.;PABP1_HUMAN|. E|R 558;469;513;526;67;105|90 ENSP00000313007:Q558E;ENSP00000429594:Q513E;ENSP00000429395:Q526E;ENSP00000428030:Q67E;ENSP00000428840:Q105E|. ENSP00000313007:Q558E|. Q|S -|- 1|3 0|2 PABPC1|PABPC1 101787008|101787008 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 9.789000|9.789000 0.99068|0.99068 2.880000|2.880000 0.98712|0.98712 0.655000|0.655000 0.94253|0.94253 CAA|AGC NOVEL PABPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380217.1 5 5.190518 KEEP 0 2 74 43 1553 GG 1 0.997163 0 - 10 47 345 0 0 27.153957 55 60 1853 157 ENST00000318607.5 0.153846 0.997163 PABPC1 26986 __UNKNOWN__ __UNKNOWN__ 8 101721899 101721899 __UNKNOWN__ Nonsense_Mutation SNP C C A rs142985461 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:101721899C>A ENST00000318607.5 - 8 2161 c.1033G>T c.(1033-1035)Gaa>Taa p.E345* PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Nonsense_Mutation_p.E300*|PABPC1_ENST00000522387.1_Nonsense_Mutation_p.E313* NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 345 RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494) breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TTAGTGGCTTCTTCTGGGGAG 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 74 69 71 NA NA NA 8 NA NA 101721899 2203 4298 6501 SO:0001587 stop_gained Y00345 CCDS6289.1 8q22.2-q23 2013-02-12 2004-04-20 ENSG00000070756 ENSG00000070756 26986 RNA binding motif (RRM) containing 8554 protein-coding gene gene with protein product 604679 poly(A)-binding protein, cytoplasmic 2 PAB1, PABPC2 NA 2885805 Standard NM_002568 XM_005250861 NA Approved PABP1, PABPL1 uc003yjs.1 P11940 OTTHUMG00000164779 ENST00000318607.5:c.1033G>T chr8.hg19:g.101721899C>A ENSP00000313007:p.Glu345* NA Q15097|Q93004 hg19 CCDS6289.1 0.02 2.671219 CTTxTTC COVERED .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. C|C|C 41|41|41 8.575894|8.575894|8.575894 0.98870|0.98870|0.98870 .|.|. .|.|. ENSG00000070756|ENSG00000070756|ENSG00000070756 ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100|ENST00000519596 .|.|. .|.|. .|.|. 4.92|4.92|4.92 4.92|4.92|4.92 0.64577|0.64577|0.64577 .|.|. 0.000000|.|. 0.64402|.|. D|.|. 0.000008|.|. .|T|T .|0.74412|0.74412 .|0.3713|0.3713 .|.|. .|.|. .|.|. 0.80722|0.80722|0.80722 A|A|A 1|1|1 .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|T|T .|0.73987|0.73987 .|-0.3809|-0.3809 .|3|3 0.87932|.|. D|.|. 0|.|. .|.|. 18.4911|18.4911|18.4911 0.90848|0.90848|0.90848 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|.|. .|.|. .|.|. .|.|. X|N|I 345;345;300;313|213|177 .|.|. ENSP00000313007:E345X|.|. E|K|R -|-|- 1|3|2 0|2|0 PABPC1|PABPC1|PABPC1 101791075|101791075|101791075 1.000000|1.000000|1.000000 0.71417|0.71417|0.71417 1.000000|1.000000|1.000000 0.80357|0.80357|0.80357 0.998000|0.998000|0.998000 0.95712|0.95712|0.95712 7.748000|7.748000|7.748000 0.85085|0.85085|0.85085 2.426000|2.426000|2.426000 0.82243|0.82243|0.82243 0.655000|0.655000|0.655000 0.94253|0.94253|0.94253 GAA|AAG|AGA NOVEL PABPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380217.1 10 4.111835 KEEP 24 9 262 106 3663 CC 1 1 0 - 24 49 698 0 0 54.716239 101 60 3346 360 ENST00000318607.5 0.192 1 PABPC1 26986 __UNKNOWN__ __UNKNOWN__ 8 101724606 101724606 __UNKNOWN__ Missense_Mutation SNP G G A rs202060459 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:101724606G>A ENST00000318607.5 - 7 2084 c.956C>T c.(955-957)aCa>aTa p.T319I PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 319 RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494) p.T319I(2) breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) ACTAGTGATTGTACCAAATGG 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) kidney(1)|endometrium(1) 154 166 162 NA NA NA 8 NA NA 101724606 2203 4298 6501 SO:0001583 missense Y00345 CCDS6289.1 8q22.2-q23 2013-02-12 2004-04-20 ENSG00000070756 ENSG00000070756 26986 RNA binding motif (RRM) containing 8554 protein-coding gene gene with protein product 604679 poly(A)-binding protein, cytoplasmic 2 PAB1, PABPC2 NA 2885805 Standard NM_002568 XM_005250861 NA Approved PABP1, PABPL1 uc003yjs.1 P11940 OTTHUMG00000164779 ENST00000318607.5:c.956C>T chr8.hg19:g.101724606G>A ENSP00000313007:p.Thr319Ile NA Q15097|Q93004 hg19 CCDS6289.1 0.02 1.234302 ATTxTAC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 26.8|26.8 4.768189|4.768189 0.90020|0.90020 .|. .|. ENSG00000070756|ENSG00000070756 ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387 .|T;T;T .|0.16196 .|2.36;2.36;2.36 5.65|5.65 5.65|5.65 0.86999|0.86999 .|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); .|0.000000 .|0.64402 .|D .|0.000009 .|T .|0.37652 .|0.1011 M|M 0.62154|0.62154 1.92|1.92 0.80722|0.80722 D|D 1|1 .|P;P;D .|0.54964 .|0.917;0.784;0.969 .|P;B;P .|0.56916 .|0.747;0.442;0.809 .|T .|0.03784 .|-1.1004 .|10 .|0.87932 .|D .|0 .|. 20.0919|20.0919 0.97823|0.97823 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|287;319;319 .|E7ERJ7;B3KT93;P11940 .|.;.;PABP1_HUMAN X|I 188|319;319;274;287 .|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I .|ENSP00000313007:T319I Q|T -|- 1|2 0|0 PABPC1|PABPC1 101793782|101793782 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 9.776000|9.776000 0.99001|0.99001 2.824000|2.824000 0.97209|0.97209 0.655000|0.655000 0.94253|0.94253 CAA|ACA NOVEL PABPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380217.1 8 4.34879 KEEP 1 1 30 25 890 GG 0.999957 0.998422 0 - 16 50 446 0 0 35.354494 59 60 2003 143 ENST00000318607.5 0.213333 0.998465 PABPC1 26986 __UNKNOWN__ __UNKNOWN__ 8 101725000 101725000 __UNKNOWN__ Silent SNP G G A rs62513925 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:101725000G>A ENST00000318607.5 - 6 1884 c.756C>T c.(754-756)aaC>aaT p.N252N PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Silent_p.N207N|PABPC1_ENST00000522387.1_Silent_p.N220N NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 252 CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494) breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GCTCCTTTCCGTTCATCTCAT 0.368 NA G||| 4 0.000798722 8e-04 0 5008 , , NA 17072 0 NA 0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 89 81 84 NA NA NA 8 NA NA 101725000 2203 4300 6503 SO:0001819 synonymous_variant Y00345 CCDS6289.1 8q22.2-q23 2013-02-12 2004-04-20 ENSG00000070756 ENSG00000070756 26986 RNA binding motif (RRM) containing 8554 protein-coding gene gene with protein product 604679 poly(A)-binding protein, cytoplasmic 2 PAB1, PABPC2 NA 2885805 Standard NM_002568 XM_005250861 NA Approved PABP1, PABPL1 uc003yjs.1 P11940 OTTHUMG00000164779 ENST00000318607.5:c.756C>T chr8.hg19:g.101725000G>A NA Q15097|Q93004 hg19 CCDS6289.1 0.02 1.601227 TCCxTTC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 8.541|8.541 0.873172|0.873172 0.17322|0.17322 .|. .|. ENSG00000070756|ENSG00000070756 ENST00000519596|ENST00000519100 .|. .|. .|. 5.57|5.57 1.83|1.83 0.25207|0.25207 .|. .|. .|. .|. .|. T|T 0.58119|0.58119 0.2100|0.2100 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|T 0.50311|0.50311 -0.8843|-0.8843 4|4 .|. .|. .|. .|. 9.6713|9.6713 0.40015|0.40015 0.8007:0.0:0.1993:0.0|0.8007:0.0:0.1993:0.0 rs62513925|rs62513925 .|. .|. .|. W|M 85|121 .|. .|. R|T -|- 1|2 2|0 PABPC1|PABPC1 101794176|101794176 0.996000|0.996000 0.38824|0.38824 1.000000|1.000000 0.80357|0.80357 0.994000|0.994000 0.84299|0.84299 0.651000|0.651000 0.24873|0.24873 0.140000|0.140000 0.18849|0.18849 -0.238000|-0.238000 0.12139|0.12139 CGG|ACG NOVEL PABPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380217.1 7 4.94486 KEEP 0 1 33 28 919 GG 0.999997 0.981953 0 - 4 46 122 0 0 7.964464 49 70 1442 124 ENST00000318607.5 0.075472 0.981955 PABPC1 26986 __UNKNOWN__ __UNKNOWN__ 8 101725374 101725374 __UNKNOWN__ Missense_Mutation SNP T T C rs72681440 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:101725374T>C ENST00000318607.5 - 5 1807 c.679A>G c.(679-681)Agt>Ggt p.S227G PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.S182G|PABPC1_ENST00000522387.1_Missense_Mutation_p.S195G NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 227 CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494) breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GATTTTCCACTTTCATCAGTC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 50 51 NA NA NA 8 NA NA 101725374 2203 4300 6503 SO:0001583 missense Y00345 CCDS6289.1 8q22.2-q23 2013-02-12 2004-04-20 ENSG00000070756 ENSG00000070756 26986 RNA binding motif (RRM) containing 8554 protein-coding gene gene with protein product 604679 poly(A)-binding protein, cytoplasmic 2 PAB1, PABPC2 NA 2885805 Standard NM_002568 XM_005250861 NA Approved PABP1, PABPL1 uc003yjs.1 P11940 OTTHUMG00000164779 ENST00000318607.5:c.679A>G chr8.hg19:g.101725374T>C ENSP00000313007:p.Ser227Gly NA Q15097|Q93004 hg19 CCDS6289.1 0.02 1.669566 CACxTTC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 14.49|14.49 2.552401|2.552401 0.45487|0.45487 .|. .|. ENSG00000070756|ENSG00000070756 ENST00000519596;ENST00000523555|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387 .|D;D;T .|0.88896 .|-2.44;-2.44;2.38 4.97|4.97 4.97|4.97 0.65823|0.65823 .|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); .|0.166789 .|0.41001 .|U .|0.000964 D|D 0.84270|0.84270 0.5435|0.5435 L|L 0.33668|0.33668 1.02|1.02 0.29103|0.29103 N|N 0.881367|0.881367 .|B;B;B .|0.16396 .|0.001;0.017;0.017 .|B;B;B .|0.23150 .|0.008;0.044;0.04 T|T 0.78976|0.78976 -0.1991|-0.1991 5|10 .|0.51188 .|T .|0.08 .|. 14.9391|14.9391 0.70980|0.70980 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|195;227;227 .|E7ERJ7;B3KT93;P11940 .|.;.;PABP1_HUMAN R|G 59;173|227;227;182;195 .|ENSP00000313007:S227G;ENSP00000429594:S182G;ENSP00000429395:S195G .|ENSP00000313007:S227G K|S -|- 2|1 0|0 PABPC1|PABPC1 101794550|101794550 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.993000|0.993000 0.82548|0.82548 2.709000|2.709000 0.47160|0.47160 1.992000|1.992000 0.58205|0.58205 0.383000|0.383000 0.25322|0.25322 AAG|AGT NOVEL PABPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380217.1 3 7.659963 KEEP 0 1 39 39 1246 TT 1 0.999407 0 - 4 47 139 0 0 9.006979 72 60 2110 167 ENST00000318607.5 0.052632 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 103605426 103605426 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:103605426A>G NA NA ODF1 (32181 upstream) : KLF10 (55580 downstream) NA NA NA ccaagtagctaggactacagg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.103605426A>G NA hg19 0.02 -0.324447 GCTxGGA COVERED NOVEL 0 6 2.403172 KEEP 0 0 0 8 228 AA 0.99257 0.829507 0 4 60 132 0 0 9.709546 31 60 892 61 0.114286 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 104408774 104408774 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:104408774A>C NA NA RNU6-1011P (11479 upstream) : SLC25A32 (2088 downstream) NA NA NA gttggccaggatggtctcgat 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.104408774A>C NA hg19 0.02 -0.07848 AGGxTGG UNCOVERED NOVEL 0 6 2.407542 KEEP 0 0 0 8 260 AA 0.99257 0.076761 0 3 60 88 0 0 7.754235 6 60 154 20 0.333333 0.077336 OXR1 55074 __UNKNOWN__ __UNKNOWN__ 8 107694754 107694754 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:107694754T>C ENST00000312046.6 + 3 415 OXR1_ENST00000445937.1_Intron|OXR1_ENST00000442977.2_Intron|OXR1_ENST00000497705.1_Intron|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000531443.1_Intron|OXR1_ENST00000517566.2_Intron NM_181354.4 NP_851999.2 Q8N573 OXR1_HUMAN oxidation resistance 1 NA NA adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979) mitochondrion (GO:0005739)|nucleolus (GO:0005730) oxidoreductase activity (GO:0016491) NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) cctcggcctctcaaagtgctg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF309387 CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1 8q23 2013-03-14 ENSG00000164830 ENSG00000164830 55074 15822 protein-coding gene gene with protein product TBC/LysM-associated domain containing 3 605609 NA 11114193 Standard NM_181354 NM_181354 NA Approved TLDC3 uc011lht.2 Q8N573 OTTHUMG00000167682 ENST00000312046.6:c.283-673T>C chr8.hg19:g.107694754T>C NA A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7 hg19 CCDS6304.2 0.02 3.358923 CTCxCAA COVERED . . . . . . . . . . t 0.299 -0.975178 0.02215 . . ENSG00000164830 ENST00000517455 . . . . . . . . . . . T 0.22898 0.0553 . . . 0.09310 N 1 . . . . . . T 0.27331 -1.0077 2 . . . . . . . . . . . P 12 . . S + 1 0 OXR1 107763930 0.000000 0.05858 0.016000 0.15963 0.014000 0.08584 -0.965000 0.03829 -0.568000 0.06038 -0.564000 0.04169 TCA NOVEL OXR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343925.2 28 14.482805 KEEP 1 4 131 94 2983 TT 1 1 0 + 8 60 275 0 0 18.327103 120 60 3570 328 ENST00000312046.6 0.0625 1 TMEM74 157753 __UNKNOWN__ __UNKNOWN__ 8 109796599 109796599 __UNKNOWN__ Silent SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:109796599G>A ENST00000297459.3 - 2 907 c.729C>T c.(727-729)ggC>ggT p.G243G TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 243 NA autophagy (GO:0006914) cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764) p.G243G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) ACAGGATGACGCCCCCCAGCG 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) prostate(1) 69 67 67 NA NA NA 8 NA NA 109796599 2203 4300 6503 SO:0001819 synonymous_variant AK055230 CCDS6310.1 8q23.1 2009-11-06 ENSG00000164841 157753 26409 protein-coding gene gene with protein product 613935 NA 12477932 Standard NM_153015 NM_153015 NA Approved FLJ30668, NET36 uc003ymy.1 Q96NL1 ENST00000297459.3:c.729C>T chr8.hg19:g.109796599G>A NA hg19 CCDS6310.1 0.02 4.75949 GACxCCC COVERED NOVEL TMEM74-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380755.1 2 48.320075 KEEP 0 0 0 161 5461 GG 1 1 0 - 45 60 1293 0 0 109.343332 116 60 3809 467 ENST00000297459.3 0.279503 1 KCNV1 27012 __UNKNOWN__ __UNKNOWN__ 8 110976971 110976971 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:110976971G>C ENST00000524391.1 - 0 5881 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 NA NA potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) aatgcaggaagagaaaaccaa 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF167082 CCDS6314.1 8q23.2 2011-07-05 ENSG00000164794 27012 Potassium channels, Voltage-gated ion channels / Potassium channels 18861 protein-coding gene gene with protein product 608164 NA 8670833, 16382104 Standard NM_014379 NM_014379 NA Approved Kv8.1 uc003ynr.4 Q6PIU1 ENST00000524391.1:c.*3346C>G chr8.hg19:g.110976971G>C NA Q9UHJ4 hg19 CCDS6314.1 0.02 -0.333326 GAAxAGA COVERED NOVEL KCNV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385525.1 1 8.426379 KEEP 1 0 0 28 940 GG 0.999997 0.877705 0 - 3 60 93 0 1 6.329254 31 60 985 72 ENST00000524391.1 0.088235 0.877708 KCNV1 27012 __UNKNOWN__ __UNKNOWN__ 8 110977271 110977271 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:110977271G>A ENST00000524391.1 - 0 5581 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 NA NA potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ccccgtctctgctaaaaatac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF167082 CCDS6314.1 8q23.2 2011-07-05 ENSG00000164794 27012 Potassium channels, Voltage-gated ion channels / Potassium channels 18861 protein-coding gene gene with protein product 608164 NA 8670833, 16382104 Standard NM_014379 NM_014379 NA Approved Kv8.1 uc003ynr.4 Q6PIU1 ENST00000524391.1:c.*3046C>T chr8.hg19:g.110977271G>A NA Q9UHJ4 hg19 CCDS6314.1 0.02 1.037353 TCTxCTA COVERED NOVEL KCNV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385525.1 6 4.582977 KEEP 1 2 53 34 1252 GG 1 0.998465 0 - 6 70 164 0 0 10.502101 61 60 2045 138 ENST00000524391.1 0.089552 0.998465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 112603563 112603563 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:112603563A>G NA NA RP11-1101K5.1 (75998 upstream) : RP11-58O3.2 (150677 downstream) NA NA NA caacaagagcaaaactccgtc 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.112603563A>G NA hg19 0.02 -0.236794 AGCxAAA COVERED NOVEL 0 3 3.610833 KEEP 0 0 0 12 372 AA 0.993634 0.608508 0 3 60 105 1 0 8.005459 21 60 606 59 0.125 0.612407 CSMD3 114788 __UNKNOWN__ __UNKNOWN__ 8 113398982 113398982 __UNKNOWN__ Intron SNP C C T rs537790151 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:113398982C>T ENST00000297405.5 - 37 6179 CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Intron|CSMD3_ENST00000455883.2_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 cgcctcggccccccaaagtgc 0.507 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY210419 CCDS6315.1, CCDS6316.2, CCDS6317.1 8q23.3 2007-01-06 ENSG00000164796 ENSG00000164796 114788 19291 protein-coding gene gene with protein product 608399 NA Standard NM_052900 NM_052900 NA Approved uc003ynu.3 Q7Z407 OTTHUMG00000157027 ENST00000297405.5:c.5935-3090G>A chr8.hg19:g.113398982C>T NA Q96PZ3 hg19 CCDS6315.1 0.02 -0.149127 GCCxCCC COVERED NOVEL CSMD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347141.1 3 2.699259 KEEP 0 0 0 9 298 CC 0.99254 0.289823 0 - 3 60 93 0 0 7.37879 13 60 431 41 ENST00000297405.5 0.1875 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 116070887 116070887 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:116070887A>C NA NA RP11-267L5.1 (762819 upstream) : TRPS1 (349836 downstream) NA NA NA tcacgcctgtaatcccagcac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.116070887A>C NA hg19 0.02 -0.131541 TGTxATC COVERED NOVEL 0 7 2.407149 KEEP 6 0 0 8 243 AA 0.99257 0.22747 0 3 20 109 0 0 9.282131 10 60 287 45 0.230769 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 116724346 116724346 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:116724346G>A NA NA TRPS1 (43118 upstream) : LINC00536 (238389 downstream) NA NA NA tgtaatcccagcactttggga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.116724346G>A NA hg19 0.02 -0.210539 CCAxCAC COVERED NOVEL 0 8 3.311006 KEEP 1 0 0 11 408 GG 0.992708 0.518353 0 3 46 91 0 0 6.606193 21 60 722 49 0.125 0.522161 COL14A1 7373 __UNKNOWN__ __UNKNOWN__ 8 121333622 121333622 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:121333622A>G ENST00000297848.3 + 40 4929 COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000309791.4_Intron NM_021110.1 NP_066933.1 collagen, type XIV, alpha 1 NA NA NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) gctcacgcctataatcccagc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34938.1 8q23 2013-02-11 2008-02-04 ENSG00000187955 ENSG00000187955 7373 Collagens, Fibronectin type III domain containing 2191 protein-coding gene gene with protein product 120324 undulin UND NA 1716629, 9427527 Standard NM_021110 NM_021110 NA Approved uc003yox.4 Q05707 OTTHUMG00000149877 ENST00000297848.3:c.4659+5386A>G chr8.hg19:g.121333622A>G NA hg19 CCDS34938.1 0.02 -0.11385 CCTxTAA UNCOVERED NOVEL COL14A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313657.2 4 2.40716 KEEP 3 0 0 8 250 AA 0.99257 0.16126 0 + 3 60 91 0 0 7.735433 8 60 210 38 ENST00000297848.3 0.272727 0.162467 SNTB1 6641 __UNKNOWN__ __UNKNOWN__ 8 121583524 121583524 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:121583524C>G ENST00000395601.3 - 5 1551 SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Intron NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) NA NA muscle contraction (GO:0006936) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) TAACTGGAATCCAGTGACTGT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF028828 CCDS6334.1 8q23-q24 2013-01-10 2002-08-29 ENSG00000172164 ENSG00000172164 6641 Pleckstrin homology (PH) domain containing 11168 protein-coding gene gene with protein product tax interaction protein 43 600026 syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1) SNT2B1 NA 8183929, 9482110 Standard NM_021021 NM_021021 NA Approved 59-DAP, A1B, BSYN2, TIP-43, SNT2 uc010mdg.3 Q13884 OTTHUMG00000165041 ENST00000395601.3:c.1136+3801G>C chr8.hg19:g.121583524C>G NA A8K9E0|O14912|Q4KMG8 hg19 CCDS6334.1 0.02 1.599047 AATxCAG COVERED NOVEL SNTB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381535.1 3 9.065614 KEEP 0 1 37 43 1472 CC 1 0.979526 0 - 5 60 155 0 0 10.57287 51 60 1664 130 ENST00000395601.3 0.089286 0.979526 FBXO32 114907 __UNKNOWN__ __UNKNOWN__ 8 124531323 124531323 __UNKNOWN__ Intron SNP G G C rs142010394 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:124531323G>C ENST00000517956.1 - 5 564 FBXO32_ENST00000443022.2_Intron NM_058229.3|NM_148177.2 NP_478136.1|NP_680482.1 Q969P5 FBX32_HUMAN F-box protein 32 NA NA cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894) nucleolus (GO:0005730)|Z disc (GO:0030018) autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) tttcagcctcgcaaagtgctg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ420108 CCDS6345.1, CCDS56553.1 8q24.13 2008-01-28 2004-06-15 ENSG00000156804 ENSG00000156804 114907 F-boxes / other 16731 protein-coding gene gene with protein product 606604 F-box only protein 32 NA 11679633, 11717410 Standard NM_058229 NA Approved MAFbx, ATROGIN1, Fbx32 uc003yqr.3 Q969P5 OTTHUMG00000164981 ENST00000517956.1:c.373-4750C>G chr8.hg19:g.124531323G>C NA A4KYM0 hg19 CCDS6345.1 0.02 -0.16665 CTCxCAA COVERED NOVEL FBXO32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381281.1 2 2.407671 KEEP 0 0 0 8 277 GG 0.99257 0.351317 0 - 3 60 108 0 0 8.70991 15 60 492 39 ENST00000517956.1 0.166667 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 124566115 124566115 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:124566115T>C NA NA FBXO32 (12669 upstream) : RP11-174I12.2 (9194 downstream) NA NA NA cccttggccttccaaagtgct 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.124566115T>C NA hg19 0.02 -0.368318 CCTxCCA COVERED NOVEL 0 10 2.406491 KEEP 0 0 0 8 247 TT 0.99257 0.892632 0 4 60 131 0 0 9.457949 34 60 1004 68 0.105263 0.899314 FER1L6 654463 __UNKNOWN__ __UNKNOWN__ 8 124869634 124869634 __UNKNOWN__ Intron SNP T T C rs200453146 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:124869634T>C ENST00000522917.1 + 1 199 NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like family member 6 NA NA integral component of membrane (GO:0016021) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) cctgtagtcctagctactcag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB196633 CCDS43767.1 8q24.13 2014-06-27 2014-06-27 ENSG00000214814 ENSG00000214814 654463 28065 protein-coding gene gene with protein product fer-1-like 6 (C. elegans) NA Standard NM_001039112 NM_001039112 NA Approved C8ORFK23 uc003yqw.3 Q2WGJ9 OTTHUMG00000164998 ENST00000522917.1:c.-8+5209T>C chr8.hg19:g.124869634T>C NA hg19 CCDS43767.1 0.02 -0.342038 TCCxAGC COVERED NOVEL FER1L6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381400.1 8 3.009448 KEEP 0 0 0 10 324 TT 0.992708 0.859432 0 + 3 60 104 0 0 7.275215 35 60 1011 69 ENST00000522917.1 0.078947 0.865745 TMEM65 157378 __UNKNOWN__ __UNKNOWN__ 8 125345311 125345311 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:125345311A>G ENST00000297632.6 - 2 839 NM_194291.2 NP_919267.2 Q6PI78 TMM65_HUMAN transmembrane protein 65 NA NA integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 6 Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ccaaagtgctaggattacagg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC032396 CCDS6348.1 8q24.13 2006-11-24 ENSG00000164983 ENSG00000164983 157378 25203 protein-coding gene gene with protein product NA 12477932 Standard NM_194291 NM_194291 NA Approved uc010mdl.3 Q6PI78 OTTHUMG00000165021 ENST00000297632.6:c.305-2278T>C chr8.hg19:g.125345311A>G NA Q8N5G8|Q8WVK5 hg19 CCDS6348.1 0.02 -0.306974 GCTxGGA COVERED NOVEL TMEM65-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381464.1 8 2.407365 KEEP 1 0 0 8 251 AA 0.99257 0.812384 0 - 3 40 99 0 0 6.926748 31 60 922 67 ENST00000297632.6 0.088235 0.818465 TATDN1 83940 __UNKNOWN__ __UNKNOWN__ 8 125535065 125535065 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:125535065A>G ENST00000276692.6 - 2 126 TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000605953.1_Intron|TATDN1_ENST00000521546.1_Intron|TATDN1_ENST00000517678.1_Intron NM_032026.3 NP_114415.1 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 NA NA DNA catabolic process (GO:0006308) intracellular organelle (GO:0043229)|nucleus (GO:0005634) deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) caaagtgctgagattacaggt 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF212250 CCDS6351.1, CCDS55273.1 8q24.13 2004-06-07 ENSG00000147687 ENSG00000147687 83940 24220 protein-coding gene gene with protein product NA 12477932 Standard NM_032026 NM_032026 NA Approved CDA11 uc003yrd.2 Q6P1N9 OTTHUMG00000165068 ENST00000276692.6:c.88+112T>C chr8.hg19:g.125535065A>G NA B2R5J0|Q8TD02|Q9BY40 hg19 CCDS6351.1 0.02 -0.394695 CTGxGAT COVERED NOVEL TATDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381655.1 6 3.310117 KEEP 0 0 0 11 356 AA 0.993072 0.920221 0 - 5 60 171 0 0 12.829522 37 60 1113 72 ENST00000276692.6 0.119048 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 125985022 125985022 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:125985022T>C NA NA LINC00964 (21683 upstream) : ZNF572 (517 downstream) NA NA NA gaggccgaggtgggcggatca 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.125985022T>C NA hg19 0.02 -0.192899 AGGxGGG UNCOVERED NOVEL 0 2 2.407183 KEEP 3 0 0 8 247 TT 0 0 0 3 60 93 0 0 6.927978 19 60 542 45 0.136364 0.457757 POU5F1B 5462 __UNKNOWN__ __UNKNOWN__ 8 128430007 128430007 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:128430007T>C ENST00000465342.2 + 0 3053 CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) lung(1)|prostate(1)|urinary_tract(1) 3 tgcagtggtgtgatctcggct 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF268615 CCDS55274.1 8q24.21 2011-06-20 2009-04-15 2009-04-15 ENSG00000212993 ENSG00000212993 5462 Homeoboxes / POU class 9223 protein-coding gene gene with protein product 615739 POU domain class 5, transcription factor 1 pseudogene 1, POU class 5 homeobox 1 pseudogene 1 OTF3P1, POU5F1P1 NA 1408763 Standard NM_001159542 NM_001159542 NA Approved OTF3C uc003ysf.3 Q06416 OTTHUMG00000157807 ENST00000465342.2:c.*816T>C chr8.hg19:g.128430007T>C NA D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9 hg19 CCDS55274.1 0.02 1.71326 GTGxGAT COVERED NOVEL POU5F1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349649.2 14 3.610088 KEEP 0 0 0 12 366 TT 0.994391 0.993264 0 + 6 60 203 0 0 14.788451 52 60 1550 118 ENST00000465342.2 0.103448 0.998867 POU5F1B 5462 __UNKNOWN__ __UNKNOWN__ 8 128430030 128430030 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:128430030T>C ENST00000465342.2 + 0 3076 CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) lung(1)|prostate(1)|urinary_tract(1) 3 ctgcaacctctgcctcccagg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF268615 CCDS55274.1 8q24.21 2011-06-20 2009-04-15 2009-04-15 ENSG00000212993 ENSG00000212993 5462 Homeoboxes / POU class 9223 protein-coding gene gene with protein product 615739 POU domain class 5, transcription factor 1 pseudogene 1, POU class 5 homeobox 1 pseudogene 1 OTF3P1, POU5F1P1 NA 1408763 Standard NM_001159542 NM_001159542 NA Approved OTF3C uc003ysf.3 Q06416 OTTHUMG00000157807 ENST00000465342.2:c.*839T>C chr8.hg19:g.128430030T>C NA D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9 hg19 CCDS55274.1 0.02 1.654776 CTCxGCC COVERED NOVEL POU5F1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349649.2 12 3.009294 KEEP 0 0 0 10 320 TT 0.992708 0.982326 0 + 5 60 156 0 0 11.024711 43 60 1282 88 ENST00000465342.2 0.104167 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 128844842 128844842 __UNKNOWN__ IGR SNP C C T rs183325457 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:128844842C>T NA NA PVT1 (36568 upstream) : TMEM75 (114283 downstream) NA NA NA tggtggctcacgcctgtaatc 0.493 NA C||| 6 0.00119808 0 0.0014 5008 , , NA 18796 0 NA 0.005 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.128844842C>T NA hg19 0.02 -0.394598 TCAxGCC COVERED NOVEL 0 8 2.407904 KEEP 5 0 0 8 287 CC 0.99257 0.919755 0 4 60 101 0 0 6.363665 37 60 1247 91 0.097561 0.92664 SLA 6503 __UNKNOWN__ __UNKNOWN__ 8 134052225 134052225 __UNKNOWN__ Intron SNP T T C rs34759687|rs575715501|rs113099362|rs940080 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:134052225T>C ENST00000517648.1 - 6 585 SLA_ENST00000395352.3_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000427060.2_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron Q13239 SLAP1_HUMAN Src-like-adaptor NA NA positive regulation of signal transduction (GO:0009967) endosome (GO:0005768) SH3/SH2 adaptor activity (GO:0005070) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) cacacacacatacacacacCA 0.552 NA C||| 1112 0.222045 0.1989 0.2507 5008 , , NA 18699 0.2599 NA 0.2157 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 63 37 46 NA NA NA 8 NA NA 134052225 2013 3799 5812 SO:0001627 intron_variant CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1 8q24.22 2013-09-19 2001-11-28 ENSG00000155926 ENSG00000155926 6503 SH2 domain containing 10902 protein-coding gene gene with protein product 601099 Src-like-adapter NA 8825655, 11179692 Standard NM_001045556 NA Approved SLA1 uc011ljd.2 Q13239 OTTHUMG00000164439 ENST00000517648.1:c.536+17A>G chr8.hg19:g.134052225T>C NA B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8 hg19 0.02 5.279887 ACAxACA COVERED NOVEL SLA-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000378776.1 25 2.818388 KEEP 0 4 124 53 1440 TT 1 1 0 - 10 60 285 0 1 17.28655 156 60 4098 288 ENST00000517648.1 0.060241 1 TG 7038 __UNKNOWN__ __UNKNOWN__ 8 134120498 134120498 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:134120498A>G ENST00000220616.4 + 44 7612 TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin NA NA hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590) extracellular region (GO:0005576)|extracellular space (GO:0005615) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ccaaagtgctaggattacagg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AU141420 CCDS34944.1 8q24 2012-10-02 ENSG00000042832 ENSG00000042832 7038 11764 protein-coding gene gene with protein product 188450 NA Standard NM_003235 NM_003235 NA Approved TGN, AITD3 uc003ytw.3 P01266 OTTHUMG00000164649 ENST00000220616.4:c.7573-5168A>G chr8.hg19:g.134120498A>G NA O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3 hg19 CCDS34944.1 0.02 -0.359599 GCTxGGA COVERED NOVEL TG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379606.1 7 2.70488 KEEP 2 0 0 9 276 AA 0.99254 0.892605 0 + 3 60 100 0 0 7.026702 31 60 916 80 ENST00000220616.4 0.088235 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 138202684 138202684 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:138202684T>C NA NA RNU6-144P (84983 upstream) : RP11-238K6.1 (619002 downstream) NA NA NA gcctgtaatctcagcactttg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.138202684T>C NA hg19 0.02 -0.385925 ATCxCAG COVERED NOVEL 0 7 2.407536 KEEP 0 0 0 8 259 TT 0.99257 0.911349 0 4 60 137 0 0 10.057084 34 60 1027 81 0.105263 0.918171 RP11-238K6.1 0 __UNKNOWN__ __UNKNOWN__ 8 138866713 138866713 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:138866713A>G ENST00000518973.1 - 0 514 RP11-238K6.2_ENST00000519652.1_lincRNA NA NA NA tctgagacagagtctcgctct 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000518973.1: chr8.hg19:g.138866713A>G NA hg19 0.02 -0.245559 CAGxGTC UNCOVERED NOVEL RP11-238K6.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000377596.2 39 3.008929 KEEP 20 0 0 10 306 AA 0 0 0 - 3 38 99 0 0 7.810277 15 48 440 60 ENST00000518973.1 0.166667 0.641347 FAM135B 51059 __UNKNOWN__ __UNKNOWN__ 8 139297670 139297670 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:139297670A>G ENST00000395297.1 - 4 328 NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B NA NA NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) gattacaggcatgagccacta 0.498 NA HNSCC(54;0.14) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB196635 CCDS6375.2 8q24.23 2008-11-05 ENSG00000147724 ENSG00000147724 51059 28029 protein-coding gene gene with protein product NA 8619474, 9110174 Standard NM_015912 NM_015912 NA Approved C8ORFK32 uc003yuy.3 Q49AJ0 OTTHUMG00000149864 ENST00000395297.1:c.158-19585T>C chr8.hg19:g.139297670A>G NA B5MDB3|O95879|Q2WGJ7|Q3KP46 hg19 CCDS6375.2 0.02 -0.22799 GGCxTGA COVERED NOVEL FAM135B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313590.3 6 2.405911 KEEP 0 0 0 8 232 AA 0.99257 0.578599 0 - 4 60 127 0 0 9.914345 20 60 563 46 ENST00000395297.1 0.166667 0.58293 TRAPPC9 83696 __UNKNOWN__ __UNKNOWN__ 8 141191660 141191660 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:141191660A>G ENST00000389328.4 - 17 2865 TRAPPC9_ENST00000438773.2_Intron|TRAPPC9_ENST00000389327.3_Intron NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 NA NA cell differentiation (GO:0030154) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 aaagtgctggaattacaggtg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC006206 CCDS34946.1, CCDS55278.1 8q24.3 2010-10-22 ENSG00000167632 ENSG00000167632 83696 Trafficking protein particle complex 30832 protein-coding gene gene with protein product TRAPP 120 kDa subunit, tularik gene 1 611966 NA 11572484 Standard NM_031466 NM_031466 NA Approved IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13 uc003yvh.2 Q96Q05 OTTHUMG00000164187 ENST00000389328.4:c.2850+39897T>C chr8.hg19:g.141191660A>G NA Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2 hg19 CCDS34946.1 0.02 -0.429694 TGGxATT COVERED NOVEL TRAPPC9-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000377711.3 18 2.707971 KEEP 2 0 0 9 274 AA 0.99254 0.947371 0 - 3 59 98 0 0 6.478391 41 60 1174 80 ENST00000389328.4 0.068182 0.954491 PTK2 5747 __UNKNOWN__ __UNKNOWN__ 8 141813380 141813380 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:141813380G>A ENST00000522684.1 - 11 1205 PTK2_ENST00000340930.3_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000395218.2_Intron NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570) apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725) actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) tacaggtgtgggccaccgcgc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L13616 CCDS6381.1, CCDS56557.1 8q24.3 2013-02-18 2013-02-18 ENSG00000169398 ENSG00000169398 5747 2.7.10.1 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9611 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 71 600758 PTK2 protein tyrosine kinase 2 NA 8422239 Standard NM_005607 NM_153831 NA Approved FAK, FADK, FAK1, PPP1R71 uc003yvt.3 Q05397 OTTHUMG00000067438 ENST00000522684.1:c.975+261C>T chr8.hg19:g.141813380G>A NA B4E2N6|F5H4S4|Q14291|Q9UD85 hg19 CCDS6381.1 0.02 -0.263145 GTGxGCC COVERED NOVEL PTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378054.5 4 2.407756 KEEP 0 0 0 8 274 GG 0.99257 0.688515 0 - 3 60 92 0 0 6.595428 23 60 763 55 ENST00000522684.1 0.115385 0.693668 DENND3 22898 __UNKNOWN__ __UNKNOWN__ 8 142161412 142161412 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:142161412T>C ENST00000519811.1 + 7 925 DENND3_ENST00000424248.1_Intron|DENND3_ENST00000262585.2_Intron A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 NA NA cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) gtaatcccagtactttgggag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020677 CCDS34947.1 8q24.3 2013-01-10 ENSG00000105339 22898 DENN/MADD domain containing, WD repeat domain containing 29134 protein-coding gene gene with protein product NA 10048485 Standard NM_014957 NM_014957 NA Approved KIAA0870 uc003yvy.3 A2RUS2 ENST00000519811.1:c.856-306T>C chr8.hg19:g.142161412T>C NA B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3 hg19 0.02 -0.403321 CAGxACT COVERED NOVEL DENND3-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000380189.3 10 2.707548 KEEP 0 0 0 9 266 TT 0.99254 0.927521 0 + 4 60 145 0 0 10.763141 36 60 1005 83 ENST00000519811.1 0.1 0.934492 TSNARE1 203062 __UNKNOWN__ __UNKNOWN__ 8 143447438 143447438 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:143447438A>C ENST00000524325.1 - 2 137 TSNARE1_ENST00000307180.3_Intron|TSNARE1_ENST00000519651.1_Intron Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 NA NA intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079) integral component of membrane (GO:0016021)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149) breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) aaggctgttgaccaggctgga 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 8q24.3 2005-08-18 203062 26437 protein-coding gene gene with protein product NA 14702039 Standard NM_145003 XM_005250828 NA Approved FLJ31164 uc003ywk.3 Q96NA8 ENST00000524325.1:c.39-11314T>G chr8.hg19:g.143447438A>C NA B7ZLB0|Q14D03 hg19 0.02 3.8393 TTGxCCA COVERED NOVEL TSNARE1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000380678.1 8 7.587849 KEEP 0 2 71 50 1440 AA 1 0.999989 0 - 5 60 168 0 0 10.571788 95 60 2682 207 ENST00000524325.1 0.05 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 143684871 143684871 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:143684871T>C NA NA BAI1 (58501 upstream) : ARC (7533 downstream) NA NA NA ccatgttgcctaggctggtct 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.143684871T>C NA hg19 0.02 -0.359336 GCCxAGG COVERED NOVEL 0 7 2.406777 KEEP 1 0 0 8 240 TT 0.99257 0.882271 0 3 60 98 0 0 6.712442 34 60 975 66 0.081081 0.888875 JRK 8629 __UNKNOWN__ __UNKNOWN__ 8 143742031 143742031 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:143742031T>C ENST00000507178.2 - 0 5779 O75564 JERKY_HUMAN Jrk homolog (mouse) NA NA nucleus (GO:0005634) DNA binding (GO:0003677) NA all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) ccaggctggtttcaaactcct 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF072467 CCDS75796.1, CCDS75797.1 8q24.3 2014-03-28 2014-03-28 ENSG00000234616 8629 6199 protein-coding gene gene with protein product 603210 jerky (mouse) homolog, jerky homolog (mouse) NA 9675132 Standard NM_003724 NM_003724 NA Approved JH8, jerky uc003ywo.3 O75564 ENST00000507178.2: chr8.hg19:g.143742031T>C NA O75565 hg19 0.02 -0.412161 GGTxTCA COVERED NOVEL JRK-003 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000362914.1 12 3.610933 KEEP 0 0 0 12 377 TT 0.993634 0.935746 0 - 3 60 104 0 0 7.348731 33 60 948 84 ENST00000507178.2 0.083333 0.941741 LY6K 54742 __UNKNOWN__ __UNKNOWN__ 8 143783291 143783291 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:143783291T>C ENST00000519387.1 + 2 631 LY6K_ENST00000292430.6_Intron|LY6K_ENST00000519390.1_Intron|LY6K_ENST00000518841.1_Intron|LY6K_ENST00000561179.1_Intron|LY6K_ENST00000522591.1_3'UTR Q17RY6 LY6K_HUMAN lymphocyte antigen 6 complex, locus K NA NA anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4) 10 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) tgcagtggtgtgatctcggct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092545 CCDS6385.1, CCDS6385.2, CCDS59114.1 8q24.3 2009-08-06 ENSG00000160886 54742 24225 protein-coding gene gene with protein product cancer/testis antigen 97 615093 NA 12516096 Standard NM_017527 NM_017527 NA Approved HSJ001348, FLJ35226, CT97 uc011ljv.2 Q17RY6 ENST00000519387.1:c.217+160T>C chr8.hg19:g.143783291T>C NA G3V116|O15227|Q9BVD7 hg19 CCDS59114.1 0.02 5.467702 GTGxGAT COVERED NOVEL LY6K-004 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000379957.2 30 7.583902 KEEP 0 2 59 46 1425 TT 1 1 0 + 7 60 221 1 0 12.753648 165 70 4788 390 ENST00000519387.1 0.040698 1 CTD-2292P10.4 0 __UNKNOWN__ __UNKNOWN__ 8 143793829 143793829 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:143793829T>C ENST00000520572.1 - 0 252 NR_038925.1 NA NA NA tggtggctcatacctgtaatc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000520572.1: chr8.hg19:g.143793829T>C NA hg19 0.02 1.719166 TCAxACC COVERED NOVEL CTD-2292P10.4-001 KNOWN basic antisense NA antisense OTTHUMT00000379959.1 10 3.309112 KEEP 0 0 0 11 319 TT 0.993072 0.986819 0 - 5 60 158 0 0 10.719864 55 60 1479 105 ENST00000520572.1 0.083333 0.993703 CTD-2292P10.4 0 __UNKNOWN__ __UNKNOWN__ 8 143793830 143793830 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:143793830A>G ENST00000520572.1 - 0 252 NR_038925.1 NA NA NA ggtggctcatacctgtaatcc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000520572.1: chr8.hg19:g.143793830A>G NA hg19 0.02 2.009562 CATxCCT COVERED NOVEL CTD-2292P10.4-001 KNOWN basic antisense NA antisense OTTHUMT00000379959.1 10 3.008706 KEEP 0 0 0 10 300 AA 0.993072 0.987533 0 - 6 60 192 0 0 13.598235 54 60 1508 111 ENST00000520572.1 0.1 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 144391462 144391462 __UNKNOWN__ IGR SNP T T C rs370922214 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:144391462T>C NA NA ZNF696 (11231 upstream) : TOP1MT (31 downstream) NA NA NA ggattacaggtgtgagccacc 0.512 NA T||| 2 0.000399361 0 0 5008 , , NA 14926 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.144391462T>C NA hg19 0.02 7.221577 AGGxGTG COVERED NOVEL 0 19 9.916995 KEEP 7 0 0 33 965 TT 0.999998 0.999998 0 8 60 260 0 0 14.946289 210 60 6023 396 0.036697 1 TOP1MT 116447 __UNKNOWN__ __UNKNOWN__ 8 144414947 144414947 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:144414947G>A ENST00000523676.1 - 2 234 TOP1MT_ENST00000521193.1_Intron|TOP1MT_ENST00000519148.1_Intron|TOP1MT_ENST00000329245.4_Intron Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial NA NA DNA replication (GO:0006260)|DNA topological change (GO:0006265) chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918) endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) tcacgcctgtgatcccagcac 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF349018 CCDS6400.1, CCDS59115.1 8q24.3 2006-04-12 ENSG00000184428 116447 29787 protein-coding gene gene with protein product 606387 NA 11526219 Standard NM_052963 NM_052963 NA Approved uc003yxz.4 Q969P6 ENST00000523676.1:c.171+1330C>T chr8.hg19:g.144414947G>A NA B7ZAR5|E7ES89|Q86ST4|Q86V82 hg19 CCDS59115.1 0.02 -0.412194 TGTxATC COVERED NOVEL TOP1MT-005 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000381295.1 1 2.708689 KEEP 0 0 0 9 304 GG 0.99254 0.934716 0 - 4 60 109 0 0 6.915359 42 60 1338 75 ENST00000523676.1 0.086957 0.941741 GSDMD 79792 __UNKNOWN__ __UNKNOWN__ 8 144640118 144640118 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:144640118A>G ENST00000526406.1 + 4 789 GSDMD_ENST00000533063.1_5'UTR NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D NA NA cellular response to extracellular stimulus (GO:0031668) breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 aggctggagtacaatggcatg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK096216 CCDS34956.1 8q24.3 2008-07-31 2008-07-31 2008-07-31 ENSG00000104518 79792 25697 protein-coding gene gene with protein product gasdermin domain containing 1 GSDMDC1 NA 15289881, 17350798 Standard NM_024736 NM_024736 NA Approved FLJ12150, DF5L uc003yyg.3 P57764 ENST00000526406.1:c.-94-414A>G chr8.hg19:g.144640118A>G NA D3DWJ9|Q96Q98 hg19 CCDS34956.1 0.02 9.593107 AGTxCAA COVERED NOVEL GSDMD-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382046.3 16 8.39404 KEEP 1 5 181 91 2659 AA 1 1 0 + 9 60 297 2 1 17.800288 205 60 5621 453 ENST00000526406.1 0.042056 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 144736909 144736909 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:144736909T>C NA NA ZNF623 (1009 upstream) : ZNF707 (29712 downstream) NA NA NA gtggctcatgtctgtaatccc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.144736909T>C NA hg19 0.02 1.836113 ATGxCTG COVERED NOVEL 0 6 4.213273 KEEP 1 0 0 14 460 TT 0.995343 0.987474 0 5 60 166 0 0 11.515401 55 60 1583 93 0.083333 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 144932863 144932863 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:144932863T>C NA NA AC105049.1 (6538 upstream) : EPPK1 (6633 downstream) NA NA NA cacattcaagtgattctcctg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.144932863T>C NA hg19 0.02 3.830085 AAGxGAT COVERED NOVEL 0 12 5.416145 KEEP 0 0 0 18 554 TT 0.999859 0.999851 0 6 60 202 1 0 13.239152 93 60 2738 199 0.060606 0.999992 EPPK1 83481 __UNKNOWN__ __UNKNOWN__ 8 144940290 144940290 __UNKNOWN__ Missense_Mutation SNP C C G rs201976887 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:144940290C>G ENST00000525985.1 - 2 7203 c.7132G>C c.(7132-7134)Gac>Cac p.D2378H P58107 EPIPL_HUMAN epiplakin 1 2378 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCGCTGGGGTCGGCCAGGACG 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C HIS/ASP 51,4341 20.2+/-43.8 0,51,2145 315 292 300 NA 7132 3.6 0.8 8 300 22,8530 7.1+/-27.0 0,22,4254 no missense EPPK1 NM_031308.1 81 0,73,6399 GG,GC,CC NA 0.2572,1.1612,0.564 probably-damaging 2378/2420 144940290 73,12871 2196 4276 6472 SO:0001583 missense AB051895 CCDS75800.1 8q24.3 2014-09-17 ENSG00000261150 83481 15577 protein-coding gene gene with protein product epidermal autoantigen 450K 607553 NA 11278896, 15671067 Standard NM_031308 NM_031308 NA Approved EPIPL1 uc003zaa.1 P58107 ENST00000525985.1:c.7132G>C chr8.hg19:g.144940290C>G ENSP00000436337:p.Asp2378His NA Q76E58|Q9NSU9 hg19 0.02 27.222957 GGTxGGC COVERED . . . . . . . . . . C 22.4 4.279155 0.80692 0.011612 0.002572 ENSG00000227184 ENST00000525985 T 0.74737 -0.87 4.43 3.56 0.40772 . . . . . D 0.83133 0.5188 M 0.89785 3.06 0.42176 D 0.991666 D 0.89917 1.0 D 0.91635 0.999 D 0.86316 0.1689 9 0.62326 D 0.03 . 10.4012 0.44231 0.0:0.9038:0.0:0.0962 . 2378 E9PPU0 . H 2378 ENSP00000436337:D2378H ENSP00000436337:D2378H D - 1 0 EPPK1 145012278 1.000000 0.71417 0.773000 0.31616 0.942000 0.58702 7.555000 0.82223 1.223000 0.43536 0.591000 0.81541 GAC NOVEL EPPK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000382675.1 1 7.968596 KEEP 5 7 245 112 3617 CC 1 1 0 - 37 60 1197 0 0 75.065312 641 60 19996 1086 ENST00000525985.1 0.054572 1 EPPK1 83481 __UNKNOWN__ __UNKNOWN__ 8 144940331 144940331 __UNKNOWN__ Missense_Mutation SNP C C T rs200585601 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:144940331C>T ENST00000525985.1 - 2 7162 c.7091G>A c.(7090-7092)cGg>cAg p.R2364Q P58107 EPIPL_HUMAN epiplakin 1 2364 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) poly(A) RNA binding (GO:0044822) p.R2364Q(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTAGCCGCGCCGGTAGGCCAC 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) large_intestine(1) C GLN/ARG 194,4166 0,194,1986 217 211 213 NA 7091 0.7 1 8 dbSNP_134 213 66,8462 0,66,4198 no missense EPPK1 NM_031308.1 43 0,260,6184 TT,TC,CC NA 0.7739,4.4495,2.0174 benign 2364/2420 144940331 260,12628 2180 4264 6444 SO:0001583 missense AB051895 CCDS75800.1 8q24.3 2014-09-17 ENSG00000261150 83481 15577 protein-coding gene gene with protein product epidermal autoantigen 450K 607553 NA 11278896, 15671067 Standard NM_031308 NM_031308 NA Approved EPIPL1 uc003zaa.1 P58107 ENST00000525985.1:c.7091G>A chr8.hg19:g.144940331C>T ENSP00000436337:p.Arg2364Gln NA Q76E58|Q9NSU9 hg19 0.02 16.028739 CGCxGGT COVERED . . . . . . . . . . C 7.296 0.612142 0.14066 0.044495 0.007739 ENSG00000227184 ENST00000525985 T 0.74526 -0.85 4.42 0.661 0.17874 . . . . . T 0.14184 0.0343 N 0.03903 -0.33 0.21579 N 0.999636 B 0.20550 0.046 B 0.12837 0.008 T 0.14254 -1.0479 9 0.02654 T 1 . 7.4216 0.27075 0.0:0.2871:0.0:0.7129 . 2364 E9PPU0 . Q 2364 ENSP00000436337:R2364Q ENSP00000436337:R2364Q R - 2 0 EPPK1 145012319 0.742000 0.28228 0.982000 0.44146 0.955000 0.61496 1.358000 0.34102 0.024000 0.15214 -0.482000 0.04802 CGG NOVEL EPPK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000382675.1 2 4.261256 KEEP 4 8 229 95 3081 CC 1 1 0 - 48 60 1361 1 0 87.030055 540 60 17192 820 ENST00000525985.1 0.081633 1 PLEC 5339 __UNKNOWN__ __UNKNOWN__ 8 145012749 145012749 __UNKNOWN__ Intron SNP G G A rs7844225 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:145012749G>A ENST00000322810.4 - 2 755 PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000357649.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000345136.3_Intron|PLEC_ENST00000436759.2_Intron NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin NA NA apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTCCCTCAGCGCCTCCCACAG 0.577 NA G||| 811 0.161941 0.5809 0.0389 5008 , , NA 17428 0.005 NA 0.005 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 G ,,,,,,, 2199,2197 553.3+/-378.7 581,1037,580 61 63 63 NA ,,,,,,, -7.6 0 8 dbSNP_116 63 70,8528 41.2+/-98.3 0,70,4229 no intron,intron,intron,intron,intron,intron,intron,intron PLEC NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1 ,,,,,,, 581,1107,4809 AA,AG,GG NA 0.8141,49.9773,17.4619 ,,,,,,, ,,,,,,, 145012749 2269,10725 2198 4299 6497 SO:0001627 intron_variant U53204 CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1 8q24 2010-02-04 2010-02-04 2010-02-04 ENSG00000178209 ENSG00000178209 5339 9069 protein-coding gene gene with protein product 601282 plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa EBS1, PLEC1 NA 8633055, 8696340 Standard NM_000445 XM_005250976 NA Approved PCN, PLTN uc003zaf.1 Q15149 OTTHUMG00000165291 ENST00000322810.4:c.585+49C>T chr8.hg19:g.145012749G>A NA Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383 hg19 CCDS43772.1 0.02 4.631044 AGCxCCT COVERED NOVEL PLEC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383281.1 1 15.031836 KEEP 0 0 0 50 1578 GG 1 1 0 - 62 60 1771 0 0 155.081002 125 60 4017 286 ENST00000322810.4 0.331551 1 KIAA1875 340390 __UNKNOWN__ __UNKNOWN__ 8 145172795 145172795 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:145172795A>G ENST00000323662.8 + 0 6493 A6NE52 K1875_HUMAN KIAA1875 NA NA large_intestine(1) 1 tgggattacaagcatgagcca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058778 8q24.3 2013-01-10 ENSG00000179698 ENSG00000179698 340390 WD repeat domain containing 26959 protein-coding gene gene with protein product NA 11347906 Standard NM_032529 NR_024207 NA Approved uc011lky.1 A6NE52 OTTHUMG00000165245 ENST00000323662.8:c.*1599A>G chr8.hg19:g.145172795A>G NA Q96JF2 hg19 0.02 -0.420993 ACAxGCA COVERED NOVEL KIAA1875-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000382917.1 3 2.688003 KEEP 0 0 0 9 270 AA 0.99254 0.941327 0 + 3 60 100 0 0 6.806518 37 60 1114 71 ENST00000323662.8 0.075 0.948402 KIAA1875 340390 __UNKNOWN__ __UNKNOWN__ 8 145173134 145173134 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:145173134A>G ENST00000323662.8 + 0 6832 A6NE52 K1875_HUMAN KIAA1875 NA NA large_intestine(1) 1 caggagaatcacttgaaccca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058778 8q24.3 2013-01-10 ENSG00000179698 ENSG00000179698 340390 WD repeat domain containing 26959 protein-coding gene gene with protein product NA 11347906 Standard NM_032529 NR_024207 NA Approved uc011lky.1 A6NE52 OTTHUMG00000165245 ENST00000323662.8:c.*1938A>G chr8.hg19:g.145173134A>G NA Q96JF2 hg19 0.02 7.599193 ATCxCTT COVERED NOVEL KIAA1875-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000382917.1 24 13.42752 KEEP 5 3 110 83 2331 AA 1 1 0 + 8 60 251 0 0 14.354278 192 70 5366 366 ENST00000323662.8 0.04 1 MROH1 727957 __UNKNOWN__ __UNKNOWN__ 8 145267760 145267760 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:145267760T>C ENST00000527071.1 + 3 196 MROH1_ENST00000534366.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000528919.1_Intron|MROH1_ENST00000423230.2_Intron|MROH1_ENST00000326134.5_Intron Q8NDA8 MROH1_HUMAN maestro heat-like repeat family member 1 NA NA NA tcccaaagtgttgggattaca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47938.1, CCDS47939.1, CCDS75803.1 8q24.3 2012-12-19 2012-12-19 2012-12-19 ENSG00000179832 ENSG00000179832 727957 maestro heat-like repeat containing 26958 protein-coding gene gene with protein product HEAT repeat containing 7A HEATR7A NA 11347906 Standard NM_032450 NM_032450 NA Approved KIAA1833 uc003zbk.4 Q8NDA8 OTTHUMG00000165781 ENST00000527071.1:c.197-1149T>C chr8.hg19:g.145267760T>C NA C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4 hg19 0.02 -0.306853 GTGxTGG COVERED NOVEL MROH1-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000386185.1 5 2.406485 KEEP 0 0 0 8 239 TT 0.99257 0.7943 0 + 5 60 175 0 0 13.865069 27 60 737 49 ENST00000527071.1 0.15625 0.800245 ZNF251 90987 __UNKNOWN__ __UNKNOWN__ 8 145978994 145978994 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:145978994C>T ENST00000292562.7 - 4 553 ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CATGCCCCAGCTGTCCCTCGC 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000435 CCDS47944.1 8q24.3 2013-01-08 ENSG00000198169 ENSG00000198169 90987 Zinc fingers, C2H2-type, - 13045 protein-coding gene gene with protein product NA Standard NM_138367 NM_138367 NA Approved uc003zdv.4 Q9BRH9 OTTHUMG00000165189 ENST00000292562.7:c.277+73G>A chr8.hg19:g.145978994C>T NA Q2M219 hg19 CCDS47944.1 0.02 1.236685 CAGxTGT COVERED NOVEL ZNF251-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382541.1 1 15.041631 KEEP 0 0 0 50 1792 CC 1 0.999678 0 - 5 60 146 1 0 8.713557 81 60 2751 158 ENST00000292562.7 0.05814 0.999678 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 145998011 145998011 __UNKNOWN__ IGR SNP G G A rs574579837 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr8:145998011G>A NA NA ZNF251 (17021 upstream) : ZNF34 (487 downstream) NA NA NA tgcaacctccgcctcccaggt 0.493 NA G||| 1 0.000199681 0 0 5008 , , NA 17316 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.145998011G>A NA hg19 0.02 1.125112 TCCxCCT COVERED NOVEL 0 5 5.642299 KEEP 1 1 29 29 967 GG 0.999997 0.9937 0 5 60 137 0 0 8.62309 55 60 1783 105 0.083333 0.993703 C9orf66 157983 __UNKNOWN__ __UNKNOWN__ 9 213999 213999 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:213999C>T ENST00000382387.2 - 0 1894 NM_152569.2 NP_689782.2 Q5T8R8 CI066_HUMAN chromosome 9 open reading frame 66 NA NA central_nervous_system(1)|cervix(1)|kidney(1)|skin(1) 4 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) gtgctgggatcacaggcgtga 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055720 CCDS6439.1 9p24.3 2008-02-05 ENSG00000183784 ENSG00000183784 157983 26436 protein-coding gene gene with protein product NA Standard NM_152569 NM_152569 NA Approved FLJ31158 uc003zge.4 Q5T8R8 OTTHUMG00000021017 ENST00000382387.2:c.*510G>A chr9.hg19:g.213999C>T NA Q96NB0 hg19 CCDS6439.1 0.02 1.081204 GATxACA COVERED NOVEL C9orf66-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055436.1 6 2.708687 KEEP 1 0 0 9 307 CC 0.99254 0.989288 0 - 6 60 161 0 0 10.124239 63 60 2128 115 ENST00000382387.2 0.086957 0.996724 KANK1 23189 __UNKNOWN__ __UNKNOWN__ 9 733734 733734 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:733734T>C ENST00000382303.1 + 11 3897 KANK1_ENST00000382297.2_Intron|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Intron NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 NA NA negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) beta-catenin binding (GO:0008013) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) tgcactccagtctgggtgaca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833161 CCDS6441.1, CCDS34976.1 9p24.3 2013-01-10 2008-01-29 2008-01-29 ENSG00000107104 ENSG00000107104 23189 KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing 19309 protein-coding gene gene with protein product 607704 ankyrin repeat domain 15 ANKRD15 NA 12133830, 17996375, 19554261 Standard NM_015158 NM_015158 NA Approved KIAA0172, KANK uc003zgn.2 Q14678 OTTHUMG00000019434 ENST00000382303.1:c.3246-1014T>C chr9.hg19:g.733734T>C NA A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74 hg19 CCDS34976.1 0.02 3.642819 CAGxCTG COVERED NOVEL KANK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051484.2 14 14.975868 KEEP 0 1 32 61 1869 TT 1 0.999998 0 + 8 60 264 0 0 17.807316 101 60 2921 246 ENST00000382303.1 0.073394 0.999998 KANK1 23189 __UNKNOWN__ __UNKNOWN__ 9 734602 734602 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:734602G>C ENST00000382303.1 + 11 3897 KANK1_ENST00000382297.2_Intron|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Intron NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 NA NA negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) beta-catenin binding (GO:0008013) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) ggaggcggaggttgcagtgag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833161 CCDS6441.1, CCDS34976.1 9p24.3 2013-01-10 2008-01-29 2008-01-29 ENSG00000107104 ENSG00000107104 23189 KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing 19309 protein-coding gene gene with protein product 607704 ankyrin repeat domain 15 ANKRD15 NA 12133830, 17996375, 19554261 Standard NM_015158 NM_015158 NA Approved KIAA0172, KANK uc003zgn.2 Q14678 OTTHUMG00000019434 ENST00000382303.1:c.3246-146G>C chr9.hg19:g.734602G>C NA A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74 hg19 CCDS34976.1 0.02 -0.34211 GAGxTTG COVERED NOVEL KANK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051484.2 5 12.940925 KEEP 1 0 0 43 1458 GG 1 0.877708 0 + 3 60 98 0 0 6.787448 32 60 1046 98 ENST00000382303.1 0.085714 0.877708 RCL1 10171 __UNKNOWN__ __UNKNOWN__ 9 4804735 4804735 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:4804735G>A ENST00000381750.4 + 1 359 RCL1_ENST00000381732.3_Intron NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 NA NA ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396) nucleolus (GO:0005730) catalytic activity (GO:0003824) breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) ATCGGCTGACGCCAGCGAGGA 0.667 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ276894 CCDS6456.1, CCDS69565.1, CCDS75810.1 9p24.1-p23 2008-02-05 ENSG00000120158 ENSG00000120158 10171 17687 protein-coding gene gene with protein product 611405 NA Standard NM_005772 NM_001286701 NA Approved RPCL1, RNAC uc003zis.2 Q9Y2P8 OTTHUMG00000019474 ENST00000381750.4:c.136+11508G>A chr9.hg19:g.4804735G>A NA D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044 hg19 CCDS6456.1 0.02 0.986819 GACxCCA COVERED NOVEL RCL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051587.1 0 4.514411 KEEP 0 0 0 15 517 GG 0.99649 0.99581 0 + 5 60 139 0 0 8.157076 76 60 2483 157 ENST00000381750.4 0.061728 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 5574108 5574108 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:5574108A>G NA NA PDCD1LG2 (2826 upstream) : RP11-574F11.3 (10381 downstream) NA NA NA ccaaagtgctaggattacagg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.5574108A>G NA hg19 0.02 -0.306637 GCTxGGA COVERED NOVEL 0 5 3.009146 KEEP 0 0 0 10 312 AA 0.992708 0.79441 0 4 60 136 0 0 10.217726 29 60 825 69 0.121212 0.800245 KDM4C 23081 __UNKNOWN__ __UNKNOWN__ 9 6874897 6874897 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:6874897T>C ENST00000381309.3 + 6 1194 KDM4C_ENST00000543771.1_Intron|KDM4C_ENST00000489243.1_Intron|KDM4C_ENST00000381306.3_Intron|KDM4C_ENST00000535193.1_Intron|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000536108.1_Intron NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C NA NA histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790) androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 tgagaccagcttgggcaacat 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018323 CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1 9p24-p23 2013-01-23 2009-04-06 2009-04-06 ENSG00000107077 ENSG00000107077 23081 Chromatin-modifying enzymes / K-demethylases, Tudor domain containing 17071 protein-coding gene gene with protein product tudor domain containing 14C 605469 jumonji domain containing 2C JMJD2C NA 9872452, 15138608 Standard NM_015061 NM_015061 NA Approved GASC1, KIAA0780, TDRD14C uc003zkh.3 Q9H3R0 OTTHUMG00000019536 ENST00000381309.3:c.630-5115T>C chr9.hg19:g.6874897T>C NA B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3 hg19 CCDS6471.1 0.02 1.537953 AGCxTGG COVERED NOVEL KDM4C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051692.1 8 5.020325 KEEP 0 1 6 19 575 TT 0.999863 0.999802 0 + 4 60 134 1 0 8.41666 76 60 2182 156 ENST00000381309.3 0.05 0.99994 MPDZ 8777 __UNKNOWN__ __UNKNOWN__ 9 13136605 13136605 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:13136605A>G ENST00000541718.1 - 30 4514 MPDZ_ENST00000546205.1_Intron|MPDZ_ENST00000319217.7_Intron|MPDZ_ENST00000447879.1_Intron|MPDZ_ENST00000540202.1_Intron|MPDZ_ENST00000538841.1_Intron|MPDZ_ENST00000381022.2_Intron|MPDZ_ENST00000381015.4_Intron|MPDZ_ENST00000536827.1_Intron NM_001261407.1|NM_003829.4 NP_001248336.1|NP_003820.2 O75970 MPDZ_HUMAN multiple PDZ domain protein NA NA cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein C-terminus binding (GO:0008022) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) gattacaggcatgagccagca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF093419 CCDS47951.1, CCDS59119.1, CCDS59120.1 9p23 2008-05-15 ENSG00000107186 ENSG00000107186 8777 7208 protein-coding gene gene with protein product 603785 NA Standard NM_003829 NM_003829 NA Approved MUPP1 uc003zlb.4 O75970 OTTHUMG00000021031 ENST00000541718.1:c.4292+105T>C chr9.hg19:g.13136605A>G NA A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790 hg19 CCDS47951.1 0.02 1.75712 GGCxTGA COVERED NOVEL MPDZ-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000401076.1 6 9.02646 KEEP 0 0 0 30 929 AA 0.999997 0.99755 0 - 4 60 130 0 0 8.333435 63 60 1860 134 ENST00000541718.1 0.059701 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 13917043 13917043 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:13917043T>C NA NA RP11-536O18.1 (429533 upstream) : LINC00583 (10926 downstream) NA NA NA gctgggattataggcatgagc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.13917043T>C NA hg19 0.02 -0.263084 TTAxAGG UNCOVERED NOVEL 0 11 2.407331 KEEP 1 0 0 8 251 TT 0 0 0 4 60 136 0 0 10.979535 18 60 523 53 0.181818 0.693668 RP11-284P20.3 0 __UNKNOWN__ __UNKNOWN__ 9 14029353 14029353 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:14029353A>G ENST00000442260.1 + 0 273 NA NA NA tgtaatcccaacactttggga 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000442260.1: chr9.hg19:g.14029353A>G NA hg19 0.02 -0.236802 CCAxCAC COVERED NOVEL RP11-284P20.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000051740.1 5 2.40756 KEEP 0 0 0 8 262 AA 0.99257 0.607857 0 + 3 60 99 0 0 7.349643 22 60 659 52 ENST00000442260.1 0.12 0.612407 ZDHHC21 340481 __UNKNOWN__ __UNKNOWN__ 9 14658717 14658717 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:14658717C>T ENST00000380916.4 - 7 971 NM_178566.4 NP_848661.1 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 NA NA hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 GBM - Glioblastoma multiforme(50;4.31e-06) gatccgcccgcctcggcctcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 28 33 31 NA NA NA 9 NA NA 14658717 2202 4300 6502 SO:0001627 intron_variant AF161360 CCDS6475.1 9p22.3 2010-02-09 ENSG00000175893 ENSG00000175893 340481 Zinc fingers, DHHC-type 20750 protein-coding gene gene with protein product 614605 NA 19956733 Standard NM_178566 NM_178566 NA Approved HSPC097, DNZ1 uc003zlg.2 Q8IVQ6 OTTHUMG00000019573 ENST00000380916.4:c.504+29G>A chr9.hg19:g.14658717C>T NA A8KA95|D3DRI7|Q5VWG1 hg19 CCDS6475.1 0.02 1.081177 CCGxCTC COVERED NOVEL ZDHHC21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051748.2 3 4.815848 KEEP 1 0 0 16 580 CC 0.997832 0.994563 0 - 5 60 137 0 0 8.409311 61 60 2048 99 ENST00000380916.4 0.075758 0.996724 TTC39B 158219 __UNKNOWN__ __UNKNOWN__ 9 15186874 15186874 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:15186874C>T ENST00000507285.1 - 15 1591 TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000507993.1_Intron|TTC39B_ENST00000380850.4_Intron|TTC39B_ENST00000355694.2_Intron|TTC39B_ENST00000512701.2_Intron Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B NA NA NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 tttgtattttcagtagagatg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091187 CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1 9p22.2 2013-01-11 2008-06-23 2008-06-23 ENSG00000155158 ENSG00000155158 158219 Tetratricopeptide (TTC) repeat domain containing 23704 protein-coding gene gene with protein product 613574 chromosome 9 open reading frame 52 C9orf52 NA Standard NM_152574 NM_001168339 NA Approved FLJ33868 uc003zlr.2 Q5VTQ0 OTTHUMG00000019581 ENST00000507285.1:c.992+67G>A chr9.hg19:g.15186874C>T NA A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267 hg19 CCDS55294.1 0.02 2.287787 TTTxAGT COVERED NOVEL TTC39B-007 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000371771.2 19 21.037619 KEEP 1 2 63 92 3249 CC 1 1 0 - 9 60 247 1 0 14.721677 124 60 4139 331 ENST00000507285.1 0.067669 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 15341019 15341019 __UNKNOWN__ IGR SNP A A G rs567546572 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:15341019A>G NA NA TTC39B (33661 upstream) : RN7SL157P (7146 downstream) NA NA NA aaagtgctggaattacaggcg 0.502 NA A||| 5 0.000998403 0 0 5008 , , NA 15858 0 NA 0.005 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.15341019A>G NA hg19 0.02 -0.22803 TGGxATT COVERED NOVEL 0 5 3.310104 KEEP 0 0 0 11 353 AA 0.993072 0.578892 0 3 60 105 0 0 8.005403 21 60 636 58 0.125 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 15551489 15551489 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:15551489A>G NA NA RNU6-246P (7197 upstream) : CCDC171 (1405 downstream) NA NA NA gggattacagacgtgagccac 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.15551489A>G NA hg19 0.02 -0.394669 CAGxCGT COVERED NOVEL 0 4 3.610701 KEEP 0 0 0 12 375 AA 0.993634 0.920741 0 3 60 109 0 0 7.739562 36 60 1074 87 0.076923 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 16942120 16942120 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:16942120G>A NA NA BNC2 (71334 upstream) : RP11-132E11.2 (106796 downstream) NA NA NA acctgaggtcgggagttcgag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.16942120G>A NA hg19 0.02 -0.254401 GTCxGGA COVERED NOVEL 0 7 2.40769 KEEP 0 0 0 8 280 GG 0.99257 0.663556 0 3 28 92 0 0 6.444816 26 60 882 57 0.103448 0.668523 CNTLN 54875 __UNKNOWN__ __UNKNOWN__ 9 17299156 17299156 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:17299156A>G ENST00000380647.3 + 7 1230 CNTLN_ENST00000262360.5_Intron|CNTLN_ENST00000425824.1_Intron|CNTLN_ENST00000380641.4_3'UTR Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein NA NA centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365) centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901) breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) caggagaatcacttgaacctg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000283 CCDS43789.1, CCDS47953.1 9p22.2-p22.1 2008-11-11 2008-02-08 2008-02-08 ENSG00000044459 ENSG00000044459 54875 23432 protein-coding gene gene with protein product 611870 chromosome 9 open reading frame 101, chromosome 9 open reading frame 39 C9orf101, C9orf39 NA 18086554 Standard NM_017738 XM_005251492 NA Approved FLJ20276, bA340N12.1, OTTHUMG00000019597 uc003zmy.3 Q9NXG0 OTTHUMG00000019599 ENST00000380647.3:c.1146+806A>G chr9.hg19:g.17299156A>G NA A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5 hg19 CCDS43789.1 0.02 3.751616 ATCxCTT COVERED NOVEL CNTLN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000051793.3 12 5.717302 KEEP 0 0 0 19 596 AA 0.99986 0.999857 0 + 7 60 195 0 0 11.877714 92 60 2681 158 ENST00000380647.3 0.070707 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 18065717 18065717 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:18065717G>A NA NA SH3GL2 (268590 upstream) : RP11-570H19.2 (294877 downstream) NA NA NA ggtggctcacgcctgtaatcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.18065717G>A NA hg19 0.02 -0.140339 CACxCCT COVERED NOVEL 0 4 3.310179 KEEP 1 0 0 11 359 GG 0.993072 0.259157 0 3 60 84 0 0 6.901016 9 60 295 40 0.25 0.260965 ADAMTSL1 92949 __UNKNOWN__ __UNKNOWN__ 9 18474373 18474373 __UNKNOWN__ Intron SNP T T G rs377361900|rs146877500|rs534479187 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:18474373T>G ENST00000276935.6 + 1 63 ADAMTSL1_ENST00000380570.4_Intron|ADAMTSL1_ENST00000327883.7_Intron|ADAMTSL1_ENST00000380548.4_Intron|ADAMTSL1_ENST00000380566.4_Intron|ADAMTSL1_ENST00000431052.2_Intron Q8N6G6 ATL1_HUMAN ADAMTS-like 1 NA NA proteinaceous extracellular matrix (GO:0005578) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) gtatgtgtgtttgtgtgtgtg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF176313 CCDS6485.1, CCDS47954.1 9p21.3 2013-01-11 ENSG00000178031 ENSG00000178031 92949 Immunoglobulin superfamily / I-set domain containing 14632 protein-coding gene gene with protein product punctin 609198 chromosome 9 open reading frame 94 C9orf94 NA 9628581, 11805097 Standard NM_001040272 NA Approved ADAMTSR1, FLJ35283 uc003zne.4 Q8N6G6 OTTHUMG00000019604 ENST00000276935.6:c.63+80T>G chr9.hg19:g.18474373T>G NA A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3 hg19 0.02 1.725075 TGTxTGT COVERED NOVEL ADAMTSL1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000051804.5 3 13.376477 KEEP 0 4 139 93 2893 TT 1 0.998867 0 + 8 60 234 1 2 16.620957 61 60 1719 191 ENST00000276935.6 0.115942 0.998867 ADAMTSL1 92949 __UNKNOWN__ __UNKNOWN__ 9 18622534 18622534 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:18622534C>G ENST00000276935.6 + 5 601 ADAMTSL1_ENST00000380570.4_3'UTR|ADAMTSL1_ENST00000327883.7_Intron|ADAMTSL1_ENST00000380548.4_Intron|ADAMTSL1_ENST00000380566.4_Intron Q8N6G6 ATL1_HUMAN ADAMTS-like 1 NA NA proteinaceous extracellular matrix (GO:0005578) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTAGGTGGGACAAGTCAGGTT 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF176313 CCDS6485.1, CCDS47954.1 9p21.3 2013-01-11 ENSG00000178031 ENSG00000178031 92949 Immunoglobulin superfamily / I-set domain containing 14632 protein-coding gene gene with protein product punctin 609198 chromosome 9 open reading frame 94 C9orf94 NA 9628581, 11805097 Standard NM_001040272 NA Approved ADAMTSR1, FLJ35283 uc003zne.4 Q8N6G6 OTTHUMG00000019604 ENST00000276935.6:c.601+167C>G chr9.hg19:g.18622534C>G NA A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3 hg19 0.02 2.087949 GGAxAAG COVERED NOVEL ADAMTSL1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000051804.5 3 10.231529 KEEP 0 0 0 34 1170 CC 0.999998 0.981954 0 + 13 60 445 0 0 37.525683 43 60 1457 130 ENST00000276935.6 0.232143 0.981955 HAUS6 54801 __UNKNOWN__ __UNKNOWN__ 9 19054549 19054549 __UNKNOWN__ 3'UTR SNP T T G rs151216206 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:19054549T>G ENST00000380502.3 - 0 5127 NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 NA NA centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AACAATGTGATTTTTACAAAT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832495 CCDS6489.1 9p22.1 2011-10-24 2009-04-20 2009-04-20 ENSG00000147874 ENSG00000147874 54801 HAUS augmin-like complex subunits 25948 protein-coding gene gene with protein product 613433 family with sequence similarity 29, member A FAM29A NA 10997877, 19427217 Standard NM_017645 NM_001270890 NA Approved FLJ20060, KIAA1574, dgt6 uc003znk.4 Q7Z4H7 OTTHUMG00000019622 ENST00000380502.3:c.*1792A>C chr9.hg19:g.19054549T>G NA B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8 hg19 CCDS6489.1 0.02 5.991441 TGAxTTT COVERED NOVEL HAUS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051825.1 1 5.590766 KEEP 1 13 427 168 5315 TT 1 1 0 - 26 60 874 0 0 68.525782 140 60 4130 477 ENST00000380502.3 0.156627 1 DENND4C 55667 __UNKNOWN__ __UNKNOWN__ 9 19244477 19244477 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:19244477A>G ENST00000602925.1 + 1 399 DENND4C_ENST00000434457.2_Intron NM_017925.5 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C NA NA cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031) cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ggtggctcacacctgtaatcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000693 CCDS6491.2, CCDS6491.3 9p22.1 2012-10-03 2006-01-27 2006-01-27 ENSG00000137145 ENSG00000137145 55667 DENN/MADD domain containing 26079 protein-coding gene gene with protein product chromosome 9 open reading frame 55B, chromosome 9 open reading frame 55 C9orf55B, C9orf55 NA 12906859 Standard NM_017925 NM_017925 NA Approved FLJ20686, bA513M16.3 uc031tcw.1 Q5VZ89 OTTHUMG00000019627 ENST00000602925.1:c.-18+13646A>G chr9.hg19:g.19244477A>G NA A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3 hg19 CCDS6491.3 0.02 -0.298188 CACxCCT COVERED NOVEL DENND4C-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099627.4 11 2.700799 KEEP 0 0 0 9 264 AA 0.99254 0.775233 0 + 3 60 101 0 0 7.209422 29 60 852 62 ENST00000602925.1 0.09375 0.78106 IFNA7 3444 __UNKNOWN__ __UNKNOWN__ 9 21202073 21202073 __UNKNOWN__ Missense_Mutation SNP C C G rs76903863 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:21202073C>G ENST00000239347.3 - 1 131 c.92G>C c.(91-93)aGc>aCc p.S31T NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 31 NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATTACGCAGGCTGTGGGTCTG 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 95 94 94 NA NA NA 9 NA NA 21202073 2203 4300 6503 SO:0001583 missense CCDS34995.1 9p22 2010-12-10 ENSG00000214042 ENSG00000214042 3444 Interferons 5428 protein-coding gene gene with protein product 147567 NA 1385305 Standard NM_021057 NM_021057 NA Approved IFNA-J, IFN-alphaJ uc003zop.1 P01567 OTTHUMG00000019662 ENST00000239347.3:c.92G>C chr9.hg19:g.21202073C>G ENSP00000239347:p.Ser31Thr NA Q14607|Q5VV14 hg19 CCDS34995.1 0.02 1.783286 AGGxTGT COVERED . . . . . . . . . . C 7.904 0.734952 0.15574 . . ENSG00000214042 ENST00000239347 T 0.03413 3.94 3.14 -0.052 0.13824 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 0.925130 0.09173 N 0.838490 T 0.04952 0.0133 M 0.72576 2.205 0.09310 N 1 B 0.18968 0.032 B 0.23574 0.047 T 0.47032 -0.9148 10 0.21540 T 0.41 . 3.1528 0.06494 0.2119:0.5211:0.0:0.2669 . 31 P01567 IFNA7_HUMAN T 31 ENSP00000239347:S31T ENSP00000239347:S31T S - 2 0 IFNA7 21192073 0.000000 0.05858 0.002000 0.10522 0.001000 0.01503 -0.746000 0.04829 0.106000 0.17784 -0.302000 0.09304 AGC NOVEL IFNA7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051891.1 1 18.358709 KEEP 1 0 0 61 2145 CC 1 0.996233 0 - 4 46 139 0 0 9.204508 64 60 2177 167 ENST00000239347.3 0.058824 0.996233 LRRC19 64922 __UNKNOWN__ __UNKNOWN__ 9 26999801 26999801 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:26999801G>A ENST00000380055.5 - 2 102 IFT74_ENST00000380062.5_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000429045.2_Intron NM_022901.2 NP_075052.1 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 NA NA integral component of membrane (GO:0016021) breast(1)|endometrium(2)|kidney(1)|lung(2) 6 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) gctgagacagggtctcactct 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024955 CCDS6518.1 9p21.1 2008-02-05 ENSG00000184434 ENSG00000184434 64922 23379 protein-coding gene gene with protein product NA Standard NM_022901 NM_022901 NA Approved FLJ21302 uc003zqh.3 Q9H756 OTTHUMG00000019710 ENST00000380055.5:c.9-100C>T chr9.hg19:g.26999801G>A NA A0AV00|B9EG91 hg19 CCDS6518.1 0.02 -0.306998 CAGxGTC COVERED NOVEL LRRC19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051961.2 1 4.815237 KEEP 1 0 0 16 537 GG 0.99649 0.797437 0 - 3 60 90 0 0 6.449745 22 60 705 51 ENST00000380055.5 0.12 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 30577331 30577331 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:30577331T>C NA NA snoU13 (398756 upstream) : AL590726.2 (193763 downstream) NA NA NA tggtggctcatgcctgtaatc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.30577331T>C NA hg19 0.02 -0.333266 TCAxGCC COVERED NOVEL 0 8 2.708274 KEEP 2 0 0 9 282 TT 0.99254 0.845628 0 3 60 99 0 0 6.812207 34 60 1000 74 0.081081 0.851984 GVQW1 101362076 __UNKNOWN__ __UNKNOWN__ 9 32567602 32567602 __UNKNOWN__ Silent SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:32567602T>C ENST00000451672.1 + 1 816 c.540T>C c.(538-540)ggT>ggC p.G180G NDUFB6_ENST00000350021.2_Intron|NDUFB6_ENST00000379847.3_Intron Q8N7I0 GVQW1_HUMAN GVQW motif containing 1 180 NA NA ggattacaggtgtgagccacc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AK098413 9p21.1 2014-01-30 2013-04-08 2013-04-08 ENSG00000241043 ENSG00000241043 101362076 31424 protein-coding gene gene with protein product tigger transposable element derived 1-like 2 TIGD1L2 NA Standard NA Approved bA205M20.5 Q8N7I0 OTTHUMG00000019744 ENST00000451672.1:c.540T>C chr9.hg19:g.32567602T>C NA hg19 0.02 1.836467 AGGxGTG COVERED NOVEL GVQW1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000052009.1 8 6.733134 KEEP 1 1 36 35 992 TT 0.999999 0.992924 0 + 4 60 138 0 0 9.588419 48 60 1285 122 ENST00000451672.1 0.076923 0.992926 GVQW1 101362076 __UNKNOWN__ __UNKNOWN__ 9 32568010 32568010 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:32568010C>T ENST00000451672.1 + 0 1224 NDUFB6_ENST00000350021.2_Intron|NDUFB6_ENST00000379847.3_Intron Q8N7I0 GVQW1_HUMAN GVQW motif containing 1 NA NA NA atggcaccaccgcactccagc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098413 9p21.1 2014-01-30 2013-04-08 2013-04-08 ENSG00000241043 ENSG00000241043 101362076 31424 protein-coding gene gene with protein product tigger transposable element derived 1-like 2 TIGD1L2 NA Standard NA Approved bA205M20.5 Q8N7I0 OTTHUMG00000019744 ENST00000451672.1:c.*360C>T chr9.hg19:g.32568010C>T NA hg19 0.02 4.389222 CACxGCA COVERED NOVEL GVQW1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000052009.1 15 11.784649 KEEP 3 7 198 109 3549 CC 1 1 0 + 7 60 201 0 0 10.711211 168 60 5321 387 ENST00000451672.1 0.04 1 DNAJA1 3301 __UNKNOWN__ __UNKNOWN__ 9 33027417 33027417 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33027417G>A ENST00000330899.4 + 3 493 DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_Intron NM_001539.2 NP_001530.1 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 NA NA androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625) large_intestine(2)|ovary(1)|skin(3) 6 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) tggcctcccagagtgctggga 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L08069 CCDS6533.1 9p13.3 2011-09-02 ENSG00000086061 ENSG00000086061 3301 Heat shock proteins / DNAJ (HSP40) 5229 protein-coding gene gene with protein product neural precursor cell expressed, developmentally down-regulated 7 602837 HSJ2 NA 8334160, 11147971 Standard NM_001539 NA Approved HSPF4, hdj-2, dj-2, NEDD7 uc003zsd.1 P31689 OTTHUMG00000019760 ENST00000330899.4:c.310+429G>A chr9.hg19:g.33027417G>A NA Q5T7Q0|Q86TL9 hg19 CCDS6533.1 0.02 -0.35088 CCAxAGT COVERED NOVEL DNAJA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052031.1 9 3.611859 KEEP 1 0 0 12 431 GG 0.993634 0.87212 0 + 4 60 110 0 0 7.565133 30 60 1017 79 ENST00000330899.4 0.117647 0.877708 SMU1 55234 __UNKNOWN__ __UNKNOWN__ 9 33046816 33046816 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33046816T>C ENST00000397149.3 - 0 2067 NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) cgcttgaacctgggaggcgga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001667 CCDS6534.1 9p12 2013-01-10 ENSG00000122692 ENSG00000122692 55234 WD repeat domain containing 18247 protein-coding gene gene with protein product functional spliceosome-associated protein 57 NA 11438655, 11410362 Standard NM_018225 NM_018225 NA Approved SMU-1, FLJ10805, BWD, fSAP57 uc003zsf.1 Q2TAY7 OTTHUMG00000019757 ENST00000397149.3:c.*475A>G chr9.hg19:g.33046816T>C NA B4E3L0|Q9BU59|Q9HA96|Q9NVD1 hg19 CCDS6534.1 0.02 -0.30694 ACCxGGG COVERED NOVEL SMU1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052022.1 6 3.610835 KEEP 0 0 0 12 371 TT 0.993634 0.795151 0 - 3 60 100 0 0 7.067742 30 60 861 50 ENST00000397149.3 0.090909 0.800245 SMU1 55234 __UNKNOWN__ __UNKNOWN__ 9 33046838 33046838 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33046838A>G ENST00000397149.3 - 0 2045 NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) gttgcagtgaaccaagatcgt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001667 CCDS6534.1 9p12 2013-01-10 ENSG00000122692 ENSG00000122692 55234 WD repeat domain containing 18247 protein-coding gene gene with protein product functional spliceosome-associated protein 57 NA 11438655, 11410362 Standard NM_018225 NM_018225 NA Approved SMU-1, FLJ10805, BWD, fSAP57 uc003zsf.1 Q2TAY7 OTTHUMG00000019757 ENST00000397149.3:c.*453T>C chr9.hg19:g.33046838A>G NA B4E3L0|Q9BU59|Q9HA96|Q9NVD1 hg19 CCDS6534.1 0.02 -0.289197 TGAxCCA COVERED NOVEL SMU1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052022.1 6 3.610847 KEEP 0 0 0 12 389 AA 0.993634 0.756043 0 - 4 60 106 0 0 7.367731 27 60 775 53 ENST00000397149.3 0.129032 0.760887 BAG1 573 __UNKNOWN__ __UNKNOWN__ 9 33262442 33262442 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33262442A>G ENST00000379704.2 - 2 669 BAG1_ENST00000472232.3_Intron Q99933 BAG1_HUMAN BCL2-associated athanogene NA NA apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066) cytoplasm (GO:0005737)|nucleus (GO:0005634) receptor signaling protein activity (GO:0005057) endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00506) atcacctgagatcaggagttc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(77;1066 1502 5858 12192) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF022224 CCDS35004.1, CCDS55301.1 9p12 2010-12-09 ENSG00000107262 ENSG00000107262 573 937 protein-coding gene gene with protein product 601497 NA 7834747 Standard NM_004323 NM_004323 NA Approved uc003zsj.3 Q99933 OTTHUMG00000019766 ENST00000379704.2:c.235+257T>C chr9.hg19:g.33262442A>G NA O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4 hg19 CCDS55301.1 0.02 -0.157844 GAGxTCA UNCOVERED NOVEL BAG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052042.3 14 2.706793 KEEP 7 0 0 9 262 AA 0 0 0 - 3 32 101 0 1 8.092036 14 60 395 38 ENST00000379704.2 0.176471 0.322807 NFX1 4799 __UNKNOWN__ __UNKNOWN__ 9 33365213 33365213 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33365213T>A ENST00000379540.3 + 21 3101 NFX1_ENST00000379521.4_3'UTR NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 NA NA inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) nucleus (GO:0005634) DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) cagaggttgctgtgagctgag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U19759 CCDS6538.1, CCDS6539.1, CCDS6540.1 9p12 2013-12-13 ENSG00000086102 ENSG00000086102 4799 7803 protein-coding gene gene with protein product 603255 NA 7964459, 2511169 Standard NM_002504 NA Approved NFX2, MGC20369, Tex42, TEG-42 uc003zsq.3 Q12986 OTTHUMG00000019772 ENST00000379540.3:c.3039+441T>A chr9.hg19:g.33365213T>A NA A8K6H8|Q5VXW6|Q96EL5|Q9BXI1 hg19 CCDS6538.1 0.02 6.176398 TGCxGTG COVERED NOVEL NFX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052069.1 21 2.541101 KEEP 0 4 121 51 1561 TT 1 1 0 + 12 60 306 0 0 17.392032 171 60 4992 343 ENST00000379540.3 0.065574 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33391692 33391692 __UNKNOWN__ Intron SNP G G A rs111623229 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33391692G>A ENST00000537089.1 - 3 311 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Intron|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) tgagattCCTGTATATATATA 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.7+3383C>T chr9.hg19:g.33391692G>A NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 2.496165 CCTxTAT COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 2 7.42833 KEEP 4 9 241 110 3803 GG 1 0.999973 0 - 22 60 544 0 0 42.134673 77 60 2583 262 ENST00000537089.1 0.222222 0.999973 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395108 33395108 __UNKNOWN__ Silent SNP G G A rs2381003 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33395108G>A ENST00000539936.1 - 3 350 c.112C>T c.(112-114)Ctg>Ttg p.L38L AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 38 NA L -> V (in dbSNP:rs2381003). excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) AACTCGGCCAGGAACTCTCGC 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 129 86 101 NA NA NA 9 NA NA 33395108 2203 4300 6503 SO:0001819 synonymous_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000539936.1:c.112C>T chr9.hg19:g.33395108G>A NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 2.699266 CCAxGAA COVERED NOVEL AQP7-203 KNOWN basic protein_coding NA protein_coding 10 13.473065 KEEP 0 4 129 90 3130 GG 1 1 0 - 9 60 269 0 0 16.941298 123 60 4172 299 ENST00000539936.1 0.068182 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395216 33395216 __UNKNOWN__ Intron SNP T T G rs73645286 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33395216T>G ENST00000537089.1 - 3 193 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Intron|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCCGAGCCCATGGACAGAAAG 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 37 29 32 NA NA NA 9 NA NA 33395216 2203 4298 6501 SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.126-23A>C chr9.hg19:g.33395216T>G NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 5.965834 CCAxGGA COVERED . . . . . . . . . . T 12.46 1.943405 0.34283 . . ENSG00000165269 ENST00000379507;ENST00000379506 D;D 0.84146 -1.81;-1.69 3.74 -0.00257 0.14029 . . . . . T 0.74176 0.3682 . . . 0.19945 N 0.999942 B 0.02656 0.0 B 0.01281 0.0 T 0.62637 -0.6812 8 0.87932 D 0 . 2.3696 0.04327 0.2117:0.2486:0.0:0.5398 . 1 Q5T5M0 . L 1 ENSP00000368821:M1L;ENSP00000368820:M1L ENSP00000368820:M1L M - 1 0 AQP7 33385216 0.000000 0.05858 0.013000 0.15412 0.272000 0.26649 0.226000 0.17776 -0.004000 0.14419 -0.432000 0.05891 ATG NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 2 6.819234 KEEP 6 6 192 90 2732 TT 1 1 0 - 6 40 215 0 0 13.082445 165 60 4733 341 ENST00000537089.1 0.035088 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395238 33395238 __UNKNOWN__ Intron SNP C C T rs377141604 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33395238C>T ENST00000537089.1 - 3 193 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Intron|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) AGACTCAAGTCTGCCTGCTGC 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 28 23 24 NA NA NA 9 NA NA 33395238 2203 4299 6502 SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.126-45G>A chr9.hg19:g.33395238C>T NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 4.1239 AGTxTGC COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 1 12.914546 KEEP 4 5 151 96 3357 CC 1 1 0 - 7 40 212 0 0 11.762614 170 60 5665 373 ENST00000537089.1 0.039548 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 33509244 33509244 __UNKNOWN__ IGR SNP G G C rs548697027 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33509244G>C NA NA NOL6 (35316 upstream) : RP11-255A11.2 (3712 downstream) NA NA NA cggctcacgcgtgtaatccca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.33509244G>C NA hg19 0.02 1.511383 CGCxTGT COVERED NOVEL 0 4 3.584021 KEEP 0 2 72 37 1298 GG 1 0.999962 0 5 60 161 0 0 10.062339 87 60 2893 190 0.054348 0.999962 PRSS3 5646 __UNKNOWN__ __UNKNOWN__ 9 33799163 33799163 __UNKNOWN__ Silent SNP C C A rs376841271 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33799163C>A ENST00000379405.3 + 5 768 c.729C>A c.(727-729)atC>atA p.I243I PRSS3_ENST00000429677.3_Silent_p.I236I|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000361005.5_Silent_p.I300I|PRSS3_ENST00000342836.4_Silent_p.I257I NM_002771.3 NP_002762 P35030 TRY3_HUMAN protease, serine, 3 300 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) AGGACACCATCGCTGCCAACA 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 109 102 104 NA NA NA 9 NA NA 33799163 2203 4300 6503 SO:0001819 synonymous_variant CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1 9p13 2010-05-07 2008-03-11 ENSG00000010438 ENSG00000010438 5646 3.4.21.4 Serine peptidases / Serine peptidases 9486 protein-coding gene gene with protein product mesotrypsin 613578 protease, serine, 4 (trypsin 4, brain), protease, serine, 3 (mesotrypsin) PRSS4 NA 2326201, 8294000 Standard NM_002771 NM_002771 NA Approved TRY3, TRY4 uc003ztj.4 P35030 OTTHUMG00000019798 ENST00000379405.3:c.729C>A chr9.hg19:g.33799163C>A NA A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3 hg19 CCDS6545.1 0.02 7.206874 CATxGCT COVERED NOVEL PRSS3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052122.1 4 21.040688 KEEP 5 11 321 183 6152 CC 1 1 0 + 26 54 756 0 0 51.748528 225 60 7268 626 ENST00000379405.3 0.103586 1 PRSS3 5646 __UNKNOWN__ __UNKNOWN__ 9 33799185 33799185 __UNKNOWN__ 3'UTR SNP C C T rs558645886 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33799185C>T ENST00000379405.3 + 0 790 PRSS3_ENST00000429677.3_3'UTR|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000361005.5_3'UTR|PRSS3_ENST00000342836.4_3'UTR NM_002771.3 NP_002762 P35030 TRY3_HUMAN protease, serine, 3 NA NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) CTAAAGCCCCCGGTCCCTCTG 0.542 NA C||| 4 0.000798722 0 0 5008 , , NA 17741 0 NA 0.004 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 92 87 89 NA NA NA 9 NA NA 33799185 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1 9p13 2010-05-07 2008-03-11 ENSG00000010438 ENSG00000010438 5646 3.4.21.4 Serine peptidases / Serine peptidases 9486 protein-coding gene gene with protein product mesotrypsin 613578 protease, serine, 4 (trypsin 4, brain), protease, serine, 3 (mesotrypsin) PRSS4 NA 2326201, 8294000 Standard NM_002771 NM_002771 NA Approved TRY3, TRY4 uc003ztj.4 P35030 OTTHUMG00000019798 ENST00000379405.3:c.*7C>T chr9.hg19:g.33799185C>T NA A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3 hg19 CCDS6545.1 0.02 7.596923 CCCxGGT COVERED NOVEL PRSS3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052122.1 6 12.982622 KEEP 6 13 401 184 6183 CC 1 1 0 + 27 54 817 0 0 57.396046 224 60 7250 652 ENST00000379405.3 0.10757 1 UBE2R2 54926 __UNKNOWN__ __UNKNOWN__ 9 33898356 33898356 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33898356A>G ENST00000263228.3 + 3 455 NM_017811.3 NP_060281.2 Q712K3 UB2R2_HUMAN ubiquitin-conjugating enzyme E2R 2 NA NA protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842) endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 LUSC - Lung squamous cell carcinoma(29;0.0176) GBM - Glioblastoma multiforme(74;0.188) gggattacagatgtgagccac 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000426 CCDS6546.1 9p11.2 2008-02-05 ENSG00000107341 ENSG00000107341 54926 Ubiquitin-conjugating enzymes E2 19907 protein-coding gene gene with protein product 612506 NA 12037680 Standard NM_017811 XM_005251496 NA Approved UBC3B, CDC34B, FLJ20419, MGC10481 uc003ztm.3 Q712K3 OTTHUMG00000019797 ENST00000263228.3:c.265-1816A>G chr9.hg19:g.33898356A>G NA D3DRL5|Q9NX64 hg19 CCDS6546.1 0.02 -0.149105 CAGxTGT COVERED NOVEL UBE2R2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052118.1 5 2.708224 KEEP 1 0 0 9 289 AA 0.99254 0.289823 0 + 3 60 93 0 0 7.379194 13 60 390 41 ENST00000263228.3 0.1875 0.292001 UBAP2 55833 __UNKNOWN__ __UNKNOWN__ 9 33988920 33988920 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:33988920G>A ENST00000379238.1 - 5 560 UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000360802.1_Intron|UBAP2_ENST00000449054.1_Intron|UBAP2_ENST00000379239.4_Intron ubiquitin associated protein 2 NA NA endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) aggcgggagggtcacttgagA 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 113 112 112 NA NA NA 9 NA NA 33988920 2203 4300 6503 SO:0001627 intron_variant AB040924 CCDS6547.1, CCDS75828.1 9p11.2 2008-02-05 ENSG00000137073 ENSG00000137073 55833 14185 protein-coding gene gene with protein product NA 8871400 Standard NM_018449 NM_018449 NA Approved KIAA1491, bA176F3.5, FLJ22435 uc003ztq.1 Q5T6F2 OTTHUMG00000000427 ENST00000379238.1:c.442+50C>T chr9.hg19:g.33988920G>A NA hg19 CCDS6547.1 0.02 2.830628 AGGxTCA COVERED NOVEL UBAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001071.1 13 10.064588 KEEP 0 1 27 43 1486 GG 1 0.999999 0 - 6 60 184 0 0 11.113295 106 60 3547 216 ENST00000379238.1 0.053571 0.999999 UBAP2 55833 __UNKNOWN__ __UNKNOWN__ 9 34016249 34016249 __UNKNOWN__ Intron SNP G G A rs371760116|rs183938457 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34016249G>A ENST00000379238.1 - 2 217 UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000360802.1_Intron|UBAP2_ENST00000480885.1_Intron|UBAP2_ENST00000449054.1_Intron|UBAP2_ENST00000379239.4_Intron ubiquitin associated protein 2 NA NA endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) aggaagaggaggaggaggaag 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040924 CCDS6547.1, CCDS75828.1 9p11.2 2008-02-05 ENSG00000137073 ENSG00000137073 55833 14185 protein-coding gene gene with protein product NA 8871400 Standard NM_018449 NM_018449 NA Approved KIAA1491, bA176F3.5, FLJ22435 uc003ztq.1 Q5T6F2 OTTHUMG00000000427 ENST00000379238.1:c.99+798C>T chr9.hg19:g.34016249G>A NA hg19 CCDS6547.1 0.02 -0.219209 GGAxGAG COVERED NOVEL UBAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001071.1 7 3.611661 KEEP 0 0 0 12 422 GG 0.993634 0.549368 0 - 14 60 398 0 2 40.209894 8 60 254 57 ENST00000379238.1 0.636364 0.552887 DCAF12 25853 __UNKNOWN__ __UNKNOWN__ 9 34102178 34102178 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34102178C>T ENST00000361264.4 - 5 943 NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 NA NA protein ubiquitination (GO:0016567) centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 taccagctacccgggaggctg 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB067479 CCDS6549.1 9p11.2 2013-01-09 2009-07-17 2009-07-17 ENSG00000198876 ENSG00000198876 25853 WD repeat domain containing, DDB1 and CUL4 associated factors 19911 protein-coding gene gene with protein product cancer/testis antigen 102 KIAA1892, WD repeat domain 40A KIAA1892, WDR40A NA 11572484, 9110174 Standard NM_015397 NM_015397 NA Approved DKFZP434O125, MGC1058, CT102, TCC52 uc003ztt.2 Q5T6F0 OTTHUMG00000019806 ENST00000361264.4:c.602-3663G>A chr9.hg19:g.34102178C>T NA A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1 hg19 CCDS6549.1 0.02 -0.438564 TACxCGG COVERED NOVEL DCAF12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052133.2 7 3.310794 KEEP 0 0 0 11 389 CC 0.993072 0.953209 0 - 4 60 108 0 0 6.741667 44 60 1423 68 ENST00000361264.4 0.083333 0.959859 DCAF12 25853 __UNKNOWN__ __UNKNOWN__ 9 34102413 34102413 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34102413A>C ENST00000361264.4 - 5 943 NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 NA NA protein ubiquitination (GO:0016567) centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 gtaaccccagaactttgggag 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB067479 CCDS6549.1 9p11.2 2013-01-09 2009-07-17 2009-07-17 ENSG00000198876 ENSG00000198876 25853 WD repeat domain containing, DDB1 and CUL4 associated factors 19911 protein-coding gene gene with protein product cancer/testis antigen 102 KIAA1892, WD repeat domain 40A KIAA1892, WDR40A NA 11572484, 9110174 Standard NM_015397 NM_015397 NA Approved DKFZP434O125, MGC1058, CT102, TCC52 uc003ztt.2 Q5T6F0 OTTHUMG00000019806 ENST00000361264.4:c.602-3898T>G chr9.hg19:g.34102413A>C NA A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1 hg19 CCDS6549.1 0.02 -0.201652 CAGxACT COVERED NOVEL DCAF12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052133.2 4 3.0086 KEEP 0 0 0 10 303 AA 0.992708 0.486967 0 - 3 60 90 0 0 6.834761 16 60 450 43 ENST00000361264.4 0.157895 0.490544 KIAA1161 57462 __UNKNOWN__ __UNKNOWN__ 9 34368723 34368723 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34368723C>T ENST00000297625.7 - 0 4342 NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 NA NA carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741) integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) tctaggaagtcccaaactttc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032987 9p11.2 2009-11-06 ENSG00000164976 ENSG00000164976 57462 19918 protein-coding gene gene with protein product NA 10574461 Standard XM_351807 XM_006716808 NA Approved NET37 uc003zue.4 Q6NSJ0 OTTHUMG00000019816 ENST00000297625.7:c.*2074G>A chr9.hg19:g.34368723C>T NA Q5T587|Q5T588|Q9ULQ9 hg19 0.02 1.1322 AGTxCCA COVERED NOVEL KIAA1161-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000052158.1 6 3.586498 KEEP 0 2 53 31 996 CC 0.999998 0.999946 0 - 8 60 226 1 0 14.792049 80 60 2578 171 ENST00000297625.7 0.090909 0.999948 DNAI1 27019 __UNKNOWN__ __UNKNOWN__ 9 34471222 34471222 __UNKNOWN__ Intron SNP C C T rs368932637 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34471222C>T ENST00000242317.4 + 1 219 DNAI1_ENST00000545019.1_Intron NM_001281428.1|NM_012144.2 NP_001268357.1|NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 NA NA cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874) motor activity (GO:0003774) autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) cccaagagttcgagaccagac 0.483 NA Kartagener syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome AF091619 CCDS6557.1, CCDS75829.1 9p13.3 2013-02-19 2006-09-04 ENSG00000122735 ENSG00000122735 27019 Axonemal dyneins, WD repeat domain containing 2954 protein-coding gene gene with protein product 604366 dynein, axonemal, intermediate polypeptide 1 NA 10577904, 21953912 Standard NM_012144 NA Approved DIC1, PCD, CILD1 uc003zum.3 Q9UI46 OTTHUMG00000019825 ENST00000242317.4:c.48+12171C>T chr9.hg19:g.34471222C>T NA B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8 hg19 CCDS6557.1 0.02 -0.227992 GTTxGAG COVERED NOVEL DNAI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052192.1 9 2.407698 KEEP 0 0 0 8 276 CC 0.99257 0.578599 0 + 4 60 108 0 0 7.864624 22 60 680 45 ENST00000242317.4 0.153846 0.58293 DCTN3 11258 __UNKNOWN__ __UNKNOWN__ 9 34615845 34615845 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34615845T>C ENST00000259632.7 - 4 368 DCTN3_ENST00000447983.2_3'UTR|DCTN3_ENST00000378916.4_Intron|DCTN3_ENST00000341694.2_Intron|DCTN3_ENST00000479399.1_5'UTR|DCTN3_ENST00000477738.2_Intron|DCTN3_ENST00000378913.2_Intron NM_007234.3 NP_009165.1 dynactin 3 (p22) NA NA large_intestine(1)|skin(1) 2 all_epithelial(49;0.0863) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.0388) ttgcagtgagtcaagatcatg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF082513 CCDS6560.1, CCDS6561.1, CCDS65028.1, CCDS65029.1 9p13 2008-05-23 ENSG00000137100 ENSG00000137100 11258 2713 protein-coding gene gene with protein product 607387 NA 9722614, 11306820 Standard NM_007234 NA Approved DCTN-22 uc003zux.1 O75935 OTTHUMG00000019830 ENST00000259632.7:c.352+181A>G chr9.hg19:g.34615845T>C NA hg19 CCDS6560.1 0.02 1.696112 GAGxCAA COVERED NOVEL DCTN3-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052218.1 3 9.922902 KEEP 0 0 0 33 935 TT 0.999998 0.999108 0 - 5 60 164 0 0 10.814533 70 70 1826 114 ENST00000259632.7 0.066667 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 34681772 34681772 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34681772T>C NA NA RP11-195F19.9 (477 upstream) : CCL19 (7791 downstream) NA NA NA catgccactgtactccagcct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.34681772T>C NA hg19 0.02 -0.254303 CTGxACT COVERED NOVEL 0 13 2.406796 KEEP 2 0 0 8 242 TT 0.99257 0.688515 0 3 40 101 0 0 7.665198 20 60 545 53 0.130435 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 34711818 34711818 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34711818A>G NA NA CCL21 (1697 upstream) : FAM205A (11233 downstream) NA NA NA gggattacagacatgagccac 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.34711818A>G NA hg19 0.02 -0.175416 CAGxCAT COVERED NOVEL 0 5 2.407577 KEEP 0 0 0 8 264 AA 0.99257 0.384528 0 3 60 104 0 0 8.233205 16 60 478 42 0.157895 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 34940060 34940060 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34940060T>A NA NA FAM205CP (44285 upstream) : KIAA1045 (17423 downstream) NA NA NA aaaacacagataagacagctc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.34940060T>A NA hg19 0.02 -0.359521 AGAxAAG COVERED NOVEL 0 3 2.407155 KEEP 3 0 0 8 244 TT 0.99257 0.892632 0 4 46 123 0 0 8.863427 30 60 841 85 0.117647 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 34940079 34940079 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:34940079A>G NA NA FAM205CP (44304 upstream) : KIAA1045 (17404 downstream) NA NA NA tcaggcacagagggaggtggg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.34940079A>G NA hg19 0.02 -0.368392 CAGxGGG COVERED NOVEL 0 3 2.40767 KEEP 3 0 0 8 266 AA 0.99257 0.892632 0 3 46 100 1 0 7.067273 30 60 914 85 0.090909 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 35148260 35148260 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:35148260C>T NA NA FAM214B (31922 upstream) : UNC13B (13738 downstream) NA NA NA TTCTCTCCAGCATGAATTATC 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.35148260C>T NA hg19 0.02 2.889546 CAGxATG COVERED NOVEL 0 22 7.085275 KEEP 0 2 52 42 1482 CC 1 0.999973 0 6 60 178 0 0 10.873031 92 60 3202 211 0.061224 0.999973 UNC13B 10497 __UNKNOWN__ __UNKNOWN__ 9 35375956 35375956 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:35375956A>G ENST00000378495.3 + 14 1590 UNC13B_ENST00000378496.4_Intron|UNC13B_ENST00000396787.1_Intron NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) NA NA apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195) diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) cagcctgggcaacagagcaag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF020202 CCDS6579.1 9p13.3 2008-05-15 2003-10-17 2003-10-17 ENSG00000198722 ENSG00000198722 10497 12566 protein-coding gene gene with protein product 605836 unc-13-like (C. elegans) UNC13 NA 9607201 Standard NM_006377 NM_006377 NA Approved hmunc13, Unc13h2 uc003zwq.3 O14795 OTTHUMG00000019856 ENST00000378495.3:c.1369-69A>G chr9.hg19:g.35375956A>G NA Q5VYM8 hg19 CCDS6579.1 0.02 1.824248 GGCxACA COVERED NOVEL UNC13B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000052296.1 6 4.811943 KEEP 1 0 0 16 474 AA 0.997832 0.968715 0 + 4 60 125 0 1 8.433723 44 60 1278 85 ENST00000378495.3 0.083333 0.97082 UNC13B 10497 __UNKNOWN__ __UNKNOWN__ 9 35381611 35381611 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:35381611C>G ENST00000378495.3 + 19 2525 c.2303C>G c.(2302-2304)gCt>gGt p.A768G UNC13B_ENST00000378496.4_Missense_Mutation_p.A768G|UNC13B_ENST00000396787.1_Missense_Mutation_p.A780G NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 768 NA apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195) diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ATCCCTGAAGCTCGAGGAGAC 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 139 126 130 NA NA NA 9 NA NA 35381611 2203 4300 6503 SO:0001583 missense AF020202 CCDS6579.1 9p13.3 2008-05-15 2003-10-17 2003-10-17 ENSG00000198722 ENSG00000198722 10497 12566 protein-coding gene gene with protein product 605836 unc-13-like (C. elegans) UNC13 NA 9607201 Standard NM_006377 NM_006377 NA Approved hmunc13, Unc13h2 uc003zwq.3 O14795 OTTHUMG00000019856 ENST00000378495.3:c.2303C>G chr9.hg19:g.35381611C>G ENSP00000367756:p.Ala768Gly NA Q5VYM8 hg19 CCDS6579.1 0.02 1.695569 AAGxTCG COVERED . . . . . . . . . . C 23.5 4.423242 0.83559 . . ENSG00000198722 ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471 D;D;D 0.84800 -1.77;-1.71;-1.9 5.51 4.61 0.57282 . 0.148152 0.64402 D 0.000010 D 0.88716 0.6512 M 0.69823 2.125 0.50039 D 0.999844 P;D 0.57899 0.873;0.981 P;P 0.54100 0.517;0.742 D 0.89677 0.3888 10 0.87932 D 0 -7.732 13.1491 0.59480 0.0:0.9232:0.0:0.0768 . 768;768 F8W8M9;O14795 .;UN13B_HUMAN G 780;768;768;355 ENSP00000380006:A780G;ENSP00000367756:A768G;ENSP00000367757:A768G ENSP00000367756:A768G A + 2 0 UNC13B 35371611 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 4.834000 0.62774 1.314000 0.45095 0.650000 0.86243 GCT NOVEL UNC13B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000052296.1 3 15.033695 KEEP 0 0 0 50 1761 CC 1 0.99911 0 + 10 60 342 0 0 26.061752 67 60 2299 173 ENST00000378495.3 0.12987 0.99911 UNC13B 10497 __UNKNOWN__ __UNKNOWN__ 9 35382298 35382298 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:35382298G>T ENST00000378495.3 + 20 2630 UNC13B_ENST00000378496.4_Intron|UNC13B_ENST00000396787.1_Intron NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) NA NA apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195) diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GTTCCTGCTTGGCTTTTGCTG 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF020202 CCDS6579.1 9p13.3 2008-05-15 2003-10-17 2003-10-17 ENSG00000198722 ENSG00000198722 10497 12566 protein-coding gene gene with protein product 605836 unc-13-like (C. elegans) UNC13 NA 9607201 Standard NM_006377 NM_006377 NA Approved hmunc13, Unc13h2 uc003zwq.3 O14795 OTTHUMG00000019856 ENST00000378495.3:c.2409-56G>T chr9.hg19:g.35382298G>T NA Q5VYM8 hg19 CCDS6579.1 0.02 -0.219254 CTTxGCT COVERED NOVEL UNC13B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000052296.1 2 5.116423 KEEP 0 0 0 17 586 GG 0.999366 0.552537 0 + 8 60 204 0 0 17.408475 17 60 563 42 ENST00000378495.3 0.32 0.552887 RUSC2 9853 __UNKNOWN__ __UNKNOWN__ 9 35552095 35552095 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:35552095T>C ENST00000455600.1 + 3 2583 NM_001135999.1 NP_001129471 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 NA NA cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062) Rab GTPase binding (GO:0017137) NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) tggtggctcatgcctgtaatc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002373 CCDS35008.1 9p13.2 2003-12-02 ENSG00000198853 ENSG00000198853 9853 23625 protein-coding gene gene with protein product 611053 NA 9205841 Standard XM_048462 NM_001135999 NA Approved KIAA0375 uc003zww.3 Q8N2Y8 OTTHUMG00000019861 ENST00000455600.1:c.2015-2962T>C chr9.hg19:g.35552095T>C NA A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7 hg19 CCDS35008.1 0.02 -0.324479 TCAxGCC COVERED NOVEL RUSC2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052309.1 6 3.595379 KEEP 0 0 0 12 360 TT 0.993634 0.830395 0 + 3 60 101 0 0 7.167439 30 60 858 72 ENST00000455600.1 0.090909 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 35636676 35636676 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:35636676A>G NA NA CD72 (17137 upstream) : RP11-331F9.3 (5834 downstream) NA NA NA ggccgggcgcagtgcctcacg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.35636676A>G NA hg19 0.02 -0.175381 CGCxGTG COVERED NOVEL 0 5 2.407578 KEEP 0 0 0 8 261 AA 0.99257 0.384528 0 3 60 84 0 0 6.394171 14 60 412 38 0.176471 0.387407 SIT1 27240 __UNKNOWN__ __UNKNOWN__ 9 35650314 35650314 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:35650314G>A ENST00000259608.3 - 3 382 SIT1_ENST00000474403.1_Intron NM_014450.2 NP_055265.1 Q9Y3P8 SIT1_HUMAN signaling threshold regulating transmembrane adaptor 1 NA NA immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) kinase binding (GO:0019900)|SH2 domain binding (GO:0042169) endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 9 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGCCACCCAGGACCTGGCCTC 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 70 70 NA NA NA 9 NA NA 35650314 2203 4300 6503 SO:0001627 intron_variant CCDS6582.1 9p13-p12 2008-02-05 2005-04-26 ENSG00000137078 ENSG00000137078 27240 17710 protein-coding gene gene with protein product SHP2 interacting transmembrane adaptor 604964 suppression inducing transmembrane adaptor 1 NA 11491537, 10209036 Standard NM_014450 NM_014450 NA Approved SIT uc003zxe.1 Q9Y3P8 OTTHUMG00000019867 ENST00000259608.3:c.295+39C>T chr9.hg19:g.35650314G>A NA B2RBP9 hg19 CCDS6582.1 0.02 6.513149 CAGxACC COVERED NOVEL SIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052322.1 4 41.531678 KEEP 0 0 0 138 4730 GG 1 1 0 - 85 60 2455 0 0 222.72251 133 60 4423 498 ENST00000259608.3 0.389908 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 35907165 35907165 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:35907165A>T NA NA HRCT1 (27 upstream) : LINC00961 (2314 downstream) NA NA NA ATTGCAGCATAGTGGGAGGGA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.35907165A>T NA hg19 0.02 -0.306898 CATxGTG COVERED NOVEL 0 0 5.713645 KEEP 0 0 0 19 571 AA 0.99986 0.800133 0 14 60 419 0 0 38.35109 21 60 583 72 0.4 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 36168207 36168207 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:36168207C>A NA NA GLIPR2 (4297 upstream) : CCIN (1181 downstream) NA NA NA gttagtcctacaaaggcaatc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.36168207C>A NA hg19 0.02 -0.34212 CTAxAAA COVERED NOVEL 0 6 3.611861 KEEP 4 0 0 12 429 CC 0.993634 0.860234 0 3 25 95 0 0 6.567709 30 60 1025 86 0.090909 0.865745 POLR1E 64425 __UNKNOWN__ __UNKNOWN__ 9 37503318 37503318 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:37503318A>T ENST00000377798.4 + 0 1492 POLR1E_ENST00000377792.3_3'UTR|POLR1E_ENST00000442009.2_3'UTR NM_022490.1 NP_071935.1 O15160 RPAC1_HUMAN polymerase (RNA) I polypeptide E, 53kDa NA NA gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361) cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899) autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) ctcacacctgaaatcccagca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(116;843 1620 18506 32459 34463) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091294 CCDS6611.1 9p13.1 2013-01-21 2006-03-09 2006-03-09 ENSG00000137054 ENSG00000137054 64425 RNA polymerase subunits 17631 protein-coding gene gene with protein product RNA polymerase I associated factor 53 polymerase (RNA) I associated factor 1 PRAF1 NA 8641287 Standard NM_022490 XM_005251547 NA Approved FLJ13390, PAF53, FLJ13970 uc003zzy.1 Q9GZS1 OTTHUMG00000019920 ENST00000377798.4:c.*119A>T chr9.hg19:g.37503318A>T NA O75395|Q5JTE3 hg19 CCDS6611.1 0.02 0.934194 CTGxAAT COVERED NOVEL POLR1E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052464.1 10 6.149933 KEEP 1 4 106 58 1798 AA 1 0.999962 0 + 8 60 220 0 0 14.198608 80 60 2294 200 ENST00000377798.4 0.090909 0.999962 SHB 6461 __UNKNOWN__ __UNKNOWN__ 9 37919313 37919313 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:37919313G>C ENST00000377707.3 - 0 2600 RP11-613M10.9_ENST00000540557.1_Intron NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) SH3/SH2 adaptor activity (GO:0005070) central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) cactcacacagacacacatat 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43806.1 9p13.2 2013-09-23 2005-05-24 ENSG00000107338 ENSG00000107338 6461 SH2 domain containing 10838 protein-coding gene gene with protein product 600314 SHB adaptor protein (a Src homology 2 protein), SHB (Src homology 2 domain containing) adaptor protein B NA 7713524 Standard NM_003028 NA Approved uc004aax.3 Q15464 OTTHUMG00000019936 ENST00000377707.3:c.*505C>G chr9.hg19:g.37919313G>C NA B9EGM0|D3DRQ5|Q504U5|Q5VUM8 hg19 CCDS43806.1 0.02 1.6517 ACAxACA COVERED NOVEL SHB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052490.1 14 33.806929 KEEP 0 3 99 147 5219 GG 1 0.999559 0 - 4 60 138 0 0 8.749608 79 60 2670 318 ENST00000377707.3 0.048193 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 40147317 40147317 __UNKNOWN__ IGR SNP C C T rs201007016 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:40147317C>T NA NA AL353791.1 (114900 upstream) : RN7SL422P (369488 downstream) NA NA NA gtctcgaactcctgagctcag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.40147317C>T NA hg19 0.02 -0.105259 ACTxCTG UNCOVERED NOVEL 0 7 3.009916 KEEP 0 0 0 10 360 CC 0.992708 0.138812 0 4 47 117 0 0 10.290686 8 48 270 35 0.333333 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 44907769 44907769 __UNKNOWN__ IGR SNP C C T rs78248702 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:44907769C>T NA NA RP11-160N1.10 (37241 upstream) : FAM27C (82544 downstream) NA NA NA tcccaagtagctgggattaga 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.44907769C>T NA hg19 0.02 -0.026313 TAGxTGG UNCOVERED NOVEL 0 4 2.407989 KEEP 0 0 0 8 295 CC 0.99257 0 0 2 49 60 0 0 6.95335 0 0 0 15 1 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66455791 66455791 __UNKNOWN__ IGR SNP G G A rs200159201 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66455791G>A NA NA RP11-118H15.1 (571906 upstream) : RP11-262H14.1 (1497 downstream) NA NA NA CACGGGCCGCGGCTTGGGTCT 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66455791G>A NA hg19 0.02 -0.333316 CGCxGCT COVERED NOVEL 0 1 3.849959 KEEP 1 0 0 13 396 GG 0.994391 0.847205 0 4 46 110 0 0 8.66313 15 60 472 63 0.210526 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66456553 66456553 __UNKNOWN__ IGR SNP G G A rs111816993 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66456553G>A NA NA RP11-118H15.1 (572668 upstream) : RP11-262H14.1 (735 downstream) NA NA NA CCACTACCACGAGCAAACCCA 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66456553G>A NA hg19 0.02 -0.192968 CACxAGC UNCOVERED NOVEL 0 4 2.407366 KEEP 4 0 0 8 273 GG 0 0 0 3 49 84 0 0 6.900995 9 60 293 46 0.25 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66457077 66457077 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66457077T>C NA NA RP11-118H15.1 (573192 upstream) : RP11-262H14.1 (211 downstream) NA NA NA ataaagcccttccttctacaa 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66457077T>C NA hg19 0.02 3.43045 CCTxCCT COVERED NOVEL 0 2 8.256804 KEEP 14 1 36 40 1210 TT 1 1 0 6 40 204 0 0 14.18943 69 60 1916 238 0.08 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66457161 66457161 __UNKNOWN__ IGR SNP A A G rs139907210 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66457161A>G NA NA RP11-118H15.1 (573276 upstream) : RP11-262H14.1 (127 downstream) NA NA NA ggatggagaaatagaaccaga 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66457161A>G NA hg19 0.02 5.836723 GAAxTAG COVERED NOVEL 0 11 9.600591 KEEP 20 2 72 57 1834 AA 1 1 0 24 60 819 0 0 66.090758 109 60 3207 417 0.180451 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66458486 66458486 __UNKNOWN__ lincRNA SNP C C T rs28654542 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66458486C>T ENST00000424345.1 + 0 67 NA NA NA AATGTGGCACCGCCCTGCTGT 0.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66458486C>T NA hg19 0.02 -0.149063 CACxGCC COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 0 2.403342 KEEP 1 0 0 8 230 CC 0.99257 0.289832 0 + 4 60 114 0 0 10.177547 7 60 208 35 ENST00000424345.1 0.363636 0.292001 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66463423 66463423 __UNKNOWN__ lincRNA SNP A A C rs28679675 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66463423A>C ENST00000424345.1 + 0 224 NA NA NA AGGAAAGGGGAGGCAAAGCAG 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66463423A>C NA hg19 0.02 -0.166654 GGGxGGC COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 0 2.708275 KEEP 2 0 0 9 284 AA 0.99254 0.351306 0 + 3 60 96 0 0 7.678998 13 60 397 45 ENST00000424345.1 0.1875 0.353947 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66463455 66463455 __UNKNOWN__ lincRNA SNP A A T rs28452327 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66463455A>T ENST00000424345.1 + 0 224 NA NA NA CAGCACGGCCAGGTCAGCACA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66463455A>T NA hg19 0.02 -0.183866 GCCxGGT COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 2 2.696187 KEEP 2 0 0 9 269 AA 0.99254 0.420319 0 + 3 60 91 0 0 7.486793 10 60 282 47 ENST00000424345.1 0.230769 0.423478 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66463456 66463456 __UNKNOWN__ lincRNA SNP G G C rs28637558 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66463456G>C ENST00000424345.1 + 0 224 NA NA NA AGCACGGCCAGGTCAGCACAG 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66463456G>C NA hg19 0.02 -0.175454 CCAxGTC COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 2 2.407904 KEEP 2 0 0 8 288 GG 0.99254 0.384517 0 + 3 60 97 0 0 7.972574 11 60 391 46 ENST00000424345.1 0.214286 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66470018 66470018 __UNKNOWN__ IGR SNP G G A rs28496064 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66470018G>A NA NA RP11-262H14.1 (708 upstream) : RP11-262H14.7 (47187 downstream) NA NA NA gagccactgtgcctggcTCgt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66470018G>A NA hg19 0.02 -0.228035 TGTxCCT COVERED NOVEL 0 14 4.815892 KEEP 13 0 0 16 582 GG 0.995343 0.580216 0 6 49 160 0 0 13.405773 15 50 496 74 0.285714 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66499292 66499292 __UNKNOWN__ IGR SNP T T C rs77998783 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66499292T>C NA NA RP11-262H14.1 (29982 upstream) : RP11-262H14.7 (17913 downstream) NA NA NA AGGGTTTCAATGTGCATTTTA 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66499292T>C NA hg19 0.02 5.282669 CAAxGTG COVERED NOVEL 0 7 5.697411 KEEP 28 11 363 146 4654 TT 1 1 0 22 51 740 0 0 55.310732 161 60 4830 503 0.120219 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66800819 66800819 __UNKNOWN__ IGR SNP A A G rs111285597 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:66800819A>G NA NA RP11-318K12.2 (41447 upstream) : AL353626.1 (57717 downstream) NA NA NA aaaactagacagaagcattct 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66800819A>G NA hg19 0.02 6.954535 GACxGAA COVERED NOVEL 0 136 6.575033 KEEP 108 13 441 176 5654 AA 1 1 0 11 55 333 1 0 24.412432 73 60 2207 761 0.130952 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 67273568 67273568 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:67273568T>C NA NA AL845321.1 (48116 upstream) : RP11-236F9.2 (16001 downstream) NA NA NA ACAGCTGCGTTCATGTGGGCT 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.67273568T>C NA hg19 0.02 1.617204 CGTxCAT COVERED NOVEL 0 0 7.093418 KEEP 27 3 104 60 1905 TT 1 0.999768 0 16 48 532 0 0 42.810296 71 60 2119 227 0.183908 0.999768 RP11-764K9.1 0 __UNKNOWN__ __UNKNOWN__ 9 68405060 68405060 __UNKNOWN__ lincRNA SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68405060T>A ENST00000417843.2 - 0 224 NA NA NA agcctggcagtgacacaacaa 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000417843.2: chr9.hg19:g.68405060T>A NA hg19 0.02 1.616742 CAGxGAC COVERED NOVEL RP11-764K9.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000129817.2 5 3.911687 KEEP 1 0 0 13 403 TT 0.994391 0.968502 0 - 5 60 141 1 0 10.007304 34 60 993 91 ENST00000417843.2 0.128205 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68414556 68414556 __UNKNOWN__ IGR SNP G G T rs145693434 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68414556G>T NA NA RP11-764K9.1 (4663 upstream) : MIR4477B (751 downstream) NA NA NA cagcacatctgttaatagcat 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68414556G>T NA hg19 0.02 -0.289465 TCTxTTA COVERED NOVEL 0 22 3.61084 KEEP 1 0 0 12 397 GG 0.993634 0.756043 0 4 60 108 0 0 8.463022 15 60 500 51 0.210526 0.760887 MIR4477B 100616194 __UNKNOWN__ __UNKNOWN__ 9 68415338 68415338 __UNKNOWN__ RNA SNP A A C rs75019967 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68415338A>C ENST00000581659.1 + 0 31 NR_039688.1|NR_039689.1 microRNA 4477b NA NA NA aatgtccttaatagcaatcct 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 9 2011-09-12 100616194 ncRNAs / Micro RNAs 41898 non-coding RNA RNA, micro NA Standard NR_039689 NR_039689 NA Approved hsa-mir-4477b ENST00000581659.1: chr9.hg19:g.68415338A>C NA hg19 0.02 1.790061 TTAxTAG COVERED NOVEL MIR4477B-201 KNOWN basic miRNA NA miRNA 4 6.017757 KEEP 0 0 0 20 621 AA 0.999863 0.999725 0 + 12 60 400 0 0 30.770802 72 60 1993 151 ENST00000581659.1 0.142857 0.999862 MIR4477B 100616194 __UNKNOWN__ __UNKNOWN__ 9 68415353 68415353 __UNKNOWN__ RNA SNP T T G rs71242635 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68415353T>G ENST00000581659.1 + 0 46 NR_039688.1|NR_039689.1 microRNA 4477b NA NA NA aatccttaaatgccattaagg 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 9 2011-09-12 100616194 ncRNAs / Micro RNAs 41898 non-coding RNA RNA, micro NA Standard NR_039689 NR_039689 NA Approved hsa-mir-4477b ENST00000581659.1: chr9.hg19:g.68415353T>G NA hg19 0.02 1.914985 AAAxGCC COVERED NOVEL MIR4477B-201 KNOWN basic miRNA NA miRNA 2 4.814588 KEEP 0 0 0 16 499 TT 0.997832 0.971853 0 + 7 60 228 0 0 17.552437 40 60 1185 89 ENST00000581659.1 0.148936 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427740 68427740 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68427740A>T NA NA MIR4477B (12352 upstream) : CR786580.2 (84605 downstream) NA NA NA ATCCTGGTTAAACTAGCTACT 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68427740A>T NA hg19 0.02 3.94215 TTAxACT COVERED NOVEL 0 4 26.036225 KEEP 27 8 246 173 5701 AA 1 1 0 14 60 405 1 0 26.785063 141 60 4341 474 0.090323 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427793 68427793 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68427793G>T NA NA MIR4477B (12405 upstream) : CR786580.2 (84552 downstream) NA NA NA CTCCGTAAAAGCATTTCCTCT 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68427793G>T NA hg19 0.02 7.593322 AAAxCAT COVERED NOVEL 0 11 65.39184 KEEP 63 8 244 303 11103 GG 1 1 0 12 48 328 0 0 16.858897 281 60 9521 923 0.040956 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427801 68427801 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68427801T>C NA NA MIR4477B (12413 upstream) : CR786580.2 (84544 downstream) NA NA NA AAGCATTTCCTCTGAATATTT 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68427801T>C NA hg19 0.02 13.155869 TCCxCTG COVERED NOVEL 0 15 51.834397 KEEP 60 11 374 303 9743 TT 1 1 0 22 60 736 0 0 49.475276 293 60 8703 1007 0.069841 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427803 68427803 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68427803T>C NA NA MIR4477B (12415 upstream) : CR786580.2 (84542 downstream) NA NA NA GCATTTCCTCTGAATATTTTA 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68427803T>C NA hg19 0.02 12.831439 CTCxGAA COVERED NOVEL 0 15 47.966777 KEEP 57 12 405 301 9608 TT 1 1 0 20 60 648 0 0 41.851701 301 60 9029 1013 0.062305 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427847 68427847 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68427847C>T NA NA MIR4477B (12459 upstream) : CR786580.2 (84498 downstream) NA NA NA AAGGCAGAAACAAAAATCCCA 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68427847C>T NA hg19 0.02 9.576357 AAAxAAA COVERED NOVEL 0 21 62.344775 KEEP 56 10 316 318 11429 CC 1 1 0 14 48 415 0 0 23.329105 302 70 10433 1092 0.044304 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427909 68427909 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68427909G>T NA NA MIR4477B (12521 upstream) : CR786580.2 (84436 downstream) NA NA NA TTTAAATAAAGAAAAATAGTA 0.259 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68427909G>T NA hg19 0.02 4.183552 AAAxAAA COVERED NOVEL 0 8 23.811793 KEEP 28 5 150 132 4410 GG 1 1 0 8 60 231 0 0 13.831487 124 70 3962 390 0.060606 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68429231 68429231 __UNKNOWN__ IGR SNP C C T rs199980322 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68429231C>T NA NA MIR4477B (13843 upstream) : CR786580.2 (83114 downstream) NA NA NA TCTGATTATACATATTTACTA 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68429231C>T NA hg19 0.02 2.3854 ATAxATA COVERED NOVEL 0 27 17.023007 KEEP 29 2 55 76 2684 CC 1 1 0 6 60 164 0 0 8.807371 121 60 4004 318 0.047244 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68429913 68429913 __UNKNOWN__ IGR SNP G G A rs200589227 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68429913G>A NA NA MIR4477B (14525 upstream) : CR786580.2 (82432 downstream) NA NA NA ACGTTGTGTTGCCTCTTCTTG 0.458 NA .||| 3 0.000599042 0 0 5008 , , NA 31100 0.003 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68429913G>A NA hg19 0.02 1.216951 GTTxCCT COVERED NOVEL 0 19 3.545157 KEEP 6 1 23 20 725 GG 0.999863 0.998856 0 12 60 299 0 0 24.425319 32 60 1084 138 0.272727 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68430034 68430034 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68430034C>A NA NA MIR4477B (14646 upstream) : CR786580.2 (82311 downstream) NA NA NA aacaatcctcctgtctcagcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68430034C>A NA hg19 0.02 3.169034 CTCxTGT COVERED NOVEL 0 21 8.427725 KEEP 11 0 0 28 1020 CC 0.999957 0.999944 0 5 60 148 2 0 9.540244 60 60 2053 199 0.076923 0.999987 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68430971 68430971 __UNKNOWN__ IGR SNP G G C rs540550597 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68430971G>C NA NA MIR4477B (15583 upstream) : CR786580.2 (81374 downstream) NA NA NA GTTTTGATTAGAGGGGTCCCA 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68430971G>C NA hg19 0.02 1.815655 TTAxAGG COVERED NOVEL 0 3 11.437458 KEEP 6 0 0 38 1356 GG 1 0.973965 0 5 27 161 0 0 12.466941 27 60 878 99 0.15625 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433456 68433456 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68433456C>T NA NA MIR4477B (18068 upstream) : CR786580.2 (78889 downstream) NA NA NA TATAAAATGTCATCATTACCT 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68433456C>T NA hg19 0.02 8.005249 TGTxATC COVERED NOVEL 0 14 36.460308 KEEP 13 7 219 198 6991 CC 1 1 0 12 60 333 0 0 17.942849 249 65 8322 778 0.045977 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433588 68433588 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68433588A>T NA NA MIR4477B (18200 upstream) : CR786580.2 (78757 downstream) NA NA NA AAAATAACAAAATAGCCATGA 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68433588A>T NA hg19 0.02 3.482624 CAAxATA COVERED NOVEL 0 18 26.139191 KEEP 30 8 251 175 5653 AA 1 1 0 7 60 193 0 0 11.032672 115 60 3423 566 0.057377 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433625 68433625 __UNKNOWN__ IGR SNP A A G rs139088975 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68433625A>G NA NA MIR4477B (18237 upstream) : CR786580.2 (78720 downstream) NA NA NA AGAAACATTAAGTGTTTAGAC 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68433625A>G NA hg19 0.02 6.026502 TTAxGTG COVERED NOVEL 0 12 5.461248 KEEP 9 10 340 137 4259 AA 1 1 0 21 60 701 1 0 55.884877 100 60 2993 444 0.173554 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68454200 68454200 __UNKNOWN__ IGR SNP C C T rs373163588 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68454200C>T NA NA MIR4477B (38812 upstream) : CR786580.2 (58145 downstream) NA NA NA TCAGGATATACCTGCCATTTA 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68454200C>T NA hg19 0.02 1.346225 ATAxCTG COVERED NOVEL 0 2 8.358932 KEEP 10 1 29 38 1295 CC 0.999999 0.963773 0 6 27 165 0 0 12.322471 30 40 962 97 0.166667 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68454257 68454257 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68454257G>A NA NA MIR4477B (38869 upstream) : CR786580.2 (58088 downstream) NA NA NA GTTCTCAAGGGCAGTGGCTTC 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68454257G>A NA hg19 0.02 1.471226 AGGxCAG COVERED NOVEL 0 1 7.174351 KEEP 123 5 142 74 2531 GG 1 0.999407 0 6 60 183 0 0 12.992899 48 50 1583 315 0.111111 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68681894 68681894 __UNKNOWN__ IGR SNP T T C rs199923922 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68681894T>C NA NA CR786580.1 (168707 upstream) : AL353763.2 (315514 downstream) NA NA NA gctcaagtgatcctcctgact 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68681894T>C NA hg19 0.02 3.772226 TGAxCCT COVERED NOVEL 0 44 6.919762 KEEP 5 0 0 23 704 TT 0.999879 0.999878 0 16 60 530 0 0 40.763728 95 60 2810 224 0.144144 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68681947 68681947 __UNKNOWN__ IGR SNP C C A rs367656476 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68681947C>A NA NA CR786580.1 (168760 upstream) : AL353763.2 (315461 downstream) NA NA NA agccaccatgcccagtcctaa 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68681947C>A NA hg19 0.02 1.408871 ATGxCCA COVERED NOVEL 0 31 5.116857 KEEP 25 0 0 17 615 CC 0.995343 0.995179 0 5 49 143 2 0 8.661523 72 60 2424 182 0.064935 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728799 68728799 __UNKNOWN__ IGR SNP A A T rs4928724 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68728799A>T NA NA CR786580.1 (215612 upstream) : AL353763.2 (268609 downstream) NA NA NA ACACAAATCAATATACTTAAA 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68728799A>T NA hg19 0.02 0.827081 TCAxTAT COVERED NOVEL 0 2 2.773433 KEEP 6 5 132 56 1757 AA 1 0.999956 0 7 60 180 0 0 16.834618 8 60 227 163 0.466667 0.999956 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728922 68728922 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68728922G>A NA NA CR786580.1 (215735 upstream) : AL353763.2 (268486 downstream) NA NA NA TCAGTTTTCAGTGCTTTATTC 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68728922G>A NA hg19 0.02 17.92626 TCAxTGC COVERED NOVEL 0 46 33.611502 KEEP 70 17 561 308 11272 GG 1 1 0 35 60 1073 1 0 67.834856 503 60 17241 1452 0.065056 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728952 68728952 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68728952T>C NA NA CR786580.1 (215765 upstream) : AL353763.2 (268456 downstream) NA NA NA TTAACATTTCTTGAGATCTCA 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68728952T>C NA hg19 0.02 13.234596 TTCxTGA COVERED NOVEL 0 19 36.752249 KEEP 72 10 361 248 8167 TT 1 1 0 16 59 539 0 0 33.600425 321 60 9811 880 0.047478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728997 68728997 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:68728997T>C NA NA CR786580.1 (215810 upstream) : AL353763.2 (268411 downstream) NA NA NA ATTTATGATGTATTCATATTT 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68728997T>C NA hg19 0.02 1.591906 ATGxATT COVERED NOVEL 0 3 15.324081 KEEP 39 3 103 87 2538 TT 1 0.999862 0 5 40 156 0 0 9.798926 78 50 2077 206 0.060241 0.999862 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69067824 69067824 __UNKNOWN__ IGR SNP A A T rs371906163 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:69067824A>T NA NA MIR1299 (65503 upstream) : PGM5P2 (12415 downstream) NA NA NA ACACAAATCAATATACTTAAA 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69067824A>T NA hg19 0.02 -0.298221 TCAxTAT COVERED NOVEL 0 2 9.321372 KEEP 14 0 0 31 990 AA 0.999909 0.780989 0 3 55 86 0 0 7.543242 6 60 188 72 0.333333 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69067974 69067974 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:69067974T>C NA NA MIR1299 (65653 upstream) : PGM5P2 (12265 downstream) NA NA NA TTAACATTTCTTGAGATCTCA 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69067974T>C NA hg19 0.02 1.5641 TTCxTGA COVERED NOVEL 0 10 26.851966 KEEP 106 2 74 115 3804 TT 1 0.999907 0 4 25 135 0 0 8.268286 88 50 2709 424 0.043478 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69432062 69432062 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:69432062T>C NA NA ANKRD20A4 (6502 upstream) : AL445665.2 (155315 downstream) NA NA NA CCAACATGGATATGAGTAGTT 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69432062T>C NA hg19 0.02 -0.148748 GGAxATG COVERED NOVEL 0 6 3.007516 KEEP 7 0 0 10 292 TT 0.99254 0.289823 0 2 36 73 0 0 6.300945 6 60 169 42 0.25 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69845804 69845804 __UNKNOWN__ IGR SNP C C G rs62562664 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:69845804C>G NA NA AL359955.1 (23963 upstream) : RNU6-1293P (46982 downstream) NA NA NA TTTCTTTCAGCTGTGTTCTCA 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69845804C>G NA hg19 0.02 -0.18422 CAGxTGT COVERED NOVEL 0 4 5.417927 KEEP 2 0 0 18 660 CC 0.999366 0.423209 0 4 46 135 0 0 10.968408 17 47 579 62 0.190476 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 72653346 72653346 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:72653346A>G NA NA C9orf135 (132198 upstream) : MAMDC2 (5150 downstream) NA NA NA atggaatggaatggaatggaa 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.72653346A>G NA hg19 0.02 -0.245545 GGAxTGG COVERED NOVEL 0 12 6.008768 KEEP 25 0 0 20 612 AA 0.99257 0.663556 0 2 26 66 0 0 6.350135 2 30 61 84 0.5 0.668523 TRPM3 80036 __UNKNOWN__ __UNKNOWN__ 9 73390041 73390041 __UNKNOWN__ Intron SNP G G A rs1831144 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:73390041G>A ENST00000377111.2 - 7 1392 TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000396283.1_3'UTR|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377106.1_Intron NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 NA NA calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TTAATCCACTGTATCCCTAGC 0.343 NA A||| 805 0.160743 0.0265 0.2925 5008 , , NA 17128 0.119 NA 0.2803 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046836 CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1 9q21.11 2011-12-14 ENSG00000083067 ENSG00000083067 80036 Voltage-gated ion channels / Transient receptor potential cation channels 17992 protein-coding gene gene with protein product melastatin 2 608961 NA 16382100 Standard NM_206945 NM_206946 NA Approved KIAA1616, LTRPC3, GON-2 uc004aid.3 Q9HCF6 OTTHUMG00000019997 ENST00000377111.2:c.1148+8979C>T chr9.hg19:g.73390041G>A NA A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2 hg19 0.02 -0.342094 ACTxTAT COVERED NOVEL TRPM3-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000214157.5 1 7.524785 KEEP 0 0 0 25 905 GG 0.999931 0.865686 0 - 5 60 131 0 0 9.066924 33 60 1109 87 ENST00000377111.2 0.131579 0.865745 C9orf85 138241 __UNKNOWN__ __UNKNOWN__ 9 74597740 74597740 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:74597740T>C ENST00000377031.3 + 4 681 c.491T>C c.(490-492)aTg>aCg p.M164T C9orf85_ENST00000486911.2_Intron Q96MD7 CI085_HUMAN chromosome 9 open reading frame 85 164 NA kidney(2)|large_intestine(1)|lung(4) 7 ttagtagagatggggtttcac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BC010179 CCDS6639.1 9q21.2 2012-03-16 ENSG00000155621 ENSG00000155621 138241 28784 protein-coding gene gene with protein product NA 12477932 Standard NM_182505 NM_182505 NA Approved MGC61599 uc004ain.3 Q96MD7 OTTHUMG00000020002 ENST00000377031.3:c.491T>C chr9.hg19:g.74597740T>C ENSP00000366230:p.Met164Thr NA Q5W0N1|Q5W0N3|Q6PJW9|Q86U95 hg19 0.02 -0.21917 AGAxGGG COVERED . . . . . . . . . . t 0.001 -3.426110 0.00013 . . ENSG00000155621 ENST00000377031 T 0.01455 4.87 0.521 -1.04 0.10068 . 3.561480 0.04368 N 0.358579 T 0.00754 0.0025 . . . 0.09310 N 1 . . . . . . T 0.42224 -0.9464 6 0.02654 T 1 . . . . . . . . T 164 ENSP00000366230:M164T ENSP00000366230:M164T M + 2 0 C9orf85 73787560 0.027000 0.19231 0.011000 0.14972 0.015000 0.08874 -1.020000 0.03618 -0.450000 0.07107 -1.120000 0.02017 ATG NOVEL C9orf85-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000052628.2 5 4.242418 KEEP 0 1 25 23 653 TT 0.999931 0.552849 0 + 3 60 95 0 0 6.949983 22 60 584 52 ENST00000377031.3 0.12 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 74900547 74900547 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:74900547T>C NA NA RP11-63P12.7 (27848 upstream) : RNA5SP285 (14088 downstream) NA NA NA tggtggctcatgcctgtaatc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.74900547T>C NA hg19 0.02 -0.175416 TCAxGCC COVERED NOVEL 0 2 3.309605 KEEP 0 0 0 11 336 TT 0.993072 0.384723 0 3 60 102 0 0 8.110071 15 60 447 42 0.166667 0.387407 ZFAND5 7763 __UNKNOWN__ __UNKNOWN__ 9 74967161 74967161 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:74967161G>A ENST00000237937.3 - 0 4907 NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2 NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 NA NA face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944) cytoplasm (GO:0005737) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) cervix(1)|kidney(2)|lung(2)|prostate(1) 6 cccgggaggcggaacttgcag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF062072 CCDS6642.1 9q13-q21 2008-05-02 2006-07-07 2006-07-07 ENSG00000107372 ENSG00000107372 7763 Zinc fingers, AN1-type domain containing 13008 protein-coding gene gene with protein product 604761 zinc finger protein 216, zinc finger, A20 domain containing 2 ZNF216, ZA20D2 NA 9758550 Standard NM_001278243 NA Approved ZFAND5A uc004aiy.2 O76080 OTTHUMG00000020008 ENST00000237937.3:c.*3708C>T chr9.hg19:g.74967161G>A NA A8K484 hg19 CCDS6642.1 0.02 -0.210468 GGCxGAA COVERED NOVEL ZFAND5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052644.1 1 2.645692 KEEP 0 0 0 9 243 GG 0.99254 0.518266 0 - 3 60 92 0 0 6.961559 17 60 514 38 ENST00000237937.3 0.15 0.522161 GNAQ 2776 __UNKNOWN__ __UNKNOWN__ 9 80333166 80333166 __UNKNOWN__ 3'UTR SNP C C T rs74472483 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:80333166C>T ENST00000286548.4 - 0 4375 NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide NA NA action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826) NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 ACGCTTATAACGCTTGCAATC 0.413 NA Mis uveal melanoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 9 9q21 2776 guanine nucleotide binding protein (G protein), q polypeptide E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6658.1 9q21 2010-03-17 ENSG00000156052 ENSG00000156052 2776 4390 protein-coding gene gene with protein product 600998 NA 8825633 Standard NM_002072 NM_002072 NA Approved G-ALPHA-q, GAQ uc004akw.3 P50148 OTTHUMG00000020059 ENST00000286548.4:c.*3073G>A chr9.hg19:g.80333166C>T NA O15108|Q13462|Q6NT27|Q92471|Q9BZB9 hg19 CCDS6658.1 0.02 3.197673 TAAxGCT COVERED NOVEL GNAQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052761.1 4 3.755985 KEEP 0 10 312 122 4082 CC 1 0.999968 0 - 28 60 814 0 0 69.193447 71 60 2183 287 ENST00000286548.4 0.282828 0.999968 GNAQ 2776 __UNKNOWN__ __UNKNOWN__ 9 80333235 80333235 __UNKNOWN__ 3'UTR SNP G G A rs78763022 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:80333235G>A ENST00000286548.4 - 0 4306 NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide NA NA action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826) NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 AAAGAATCCCGTCCCGCCCCT 0.388 NA Mis uveal melanoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 9 9q21 2776 guanine nucleotide binding protein (G protein), q polypeptide E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6658.1 9q21 2010-03-17 ENSG00000156052 ENSG00000156052 2776 4390 protein-coding gene gene with protein product 600998 NA 8825633 Standard NM_002072 NM_002072 NA Approved G-ALPHA-q, GAQ uc004akw.3 P50148 OTTHUMG00000020059 ENST00000286548.4:c.*3004C>T chr9.hg19:g.80333235G>A NA O15108|Q13462|Q6NT27|Q92471|Q9BZB9 hg19 CCDS6658.1 0.02 3.178767 CCCxTCC COVERED NOVEL GNAQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052761.1 6 18.623266 KEEP 3 9 279 160 5121 GG 1 0.999978 0 - 15 60 411 0 0 29.993812 84 60 2616 374 ENST00000286548.4 0.151515 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 83245674 83245674 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:83245674T>C NA NA RP11-394O9.1 (596204 upstream) : AL353707.1 (103482 downstream) NA NA NA cttgtaatcctagcactttgg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.83245674T>C NA hg19 0.02 -0.078916 TCCxAGC UNCOVERED NOVEL 0 0 2.40679 KEEP 0 0 0 8 241 TT 0.99257 0.076761 0 3 60 94 0 0 8.344065 6 60 168 20 0.333333 0.077336 TLE1 7088 __UNKNOWN__ __UNKNOWN__ 9 84303843 84303843 __UNKNOWN__ 5'UTR SNP G G A rs367779642 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:84303843G>A ENST00000376499.3 - 0 377 NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GGCGCGCCGGGAGGCGGCTCG 0.726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS6661.1 9q21.32 2013-01-10 2001-11-28 ENSG00000196781 ENSG00000196781 7088 WD repeat domain containing 11837 protein-coding gene gene with protein product enhancer of split groucho 1 600189 transducin-like enhancer of split 1, homolog of Drosophila E(sp1) NA 8365415, 8808280 Standard NM_005077 NM_005077 NA Approved ESG1, GRG1, ESG uc004aly.3 Q04724 OTTHUMG00000021008 ENST00000376499.3:c.-688C>T chr9.hg19:g.84303843G>A NA A8K495|Q5T3G4|Q969V9 hg19 CCDS6661.1 0.02 6.135532 CGGxAGG COVERED NOVEL TLE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055407.1 1 3.851734 KEEP 0 10 308 121 4242 GG 1 1 0 - 25 55 722 1 0 50.337817 195 60 6431 508 ENST00000376499.3 0.113636 1 RP11-383M4.6 0 __UNKNOWN__ __UNKNOWN__ 9 84575686 84575686 __UNKNOWN__ lincRNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:84575686C>T ENST00000585776.1 - 0 942 NA NA NA gcctggccaacatggtgaaac 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000585776.1: chr9.hg19:g.84575686C>T NA hg19 0.02 -0.368426 CAAxATG UNCOVERED NOVEL RP11-383M4.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000453562.1 25 3.611736 KEEP 32 0 0 12 428 CC 0 0 0 - 4 29 110 0 0 7.67683 28 60 967 119 ENST00000585776.1 0.125 0.909069 IDNK 414328 __UNKNOWN__ __UNKNOWN__ 9 86243300 86243300 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:86243300G>A ENST00000376419.4 + 2 85 IDNK_ENST00000405990.3_Intron|IDNK_ENST00000376417.4_Intron|IDNK_ENST00000277124.8_Intron|IDNK_ENST00000454393.1_Intron NM_001001551.3 NP_001001551.2 Q5T6J7 GNTK_HUMAN idnK, gluconokinase homolog (E. coli) NA NA D-gluconate catabolic process (GO:0046177) ATP binding (GO:0005524)|gluconokinase activity (GO:0046316) NA ggcagggtgcggtggctcatg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC036421 CCDS35048.1, CCDS35048.2, CCDS59134.1 9q21.32 2012-03-30 2012-03-30 2012-03-30 ENSG00000148057 ENSG00000148057 414328 31367 protein-coding gene gene with protein product 611343 chromosome 9 open reading frame 103 C9orf103 NA Standard NM_001001551 NM_001001551 NA Approved bA522I20.2 uc004amu.3 Q5T6J7 OTTHUMG00000020105 ENST00000376419.4:c.81+174G>A chr9.hg19:g.86243300G>A NA A5PLN6|Q5T6J6 hg19 CCDS35048.2 0.02 1.400941 TGCxGTG COVERED NOVEL IDNK-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052837.2 5 15.774147 KEEP 0 1 33 64 2116 GG 1 0.979526 0 + 4 60 121 0 0 7.855122 49 60 1606 150 ENST00000376419.4 0.075472 0.979526 KIF27 55582 __UNKNOWN__ __UNKNOWN__ 9 86451745 86451745 __UNKNOWN__ 3'UTR SNP A A G rs2542778 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:86451745A>G ENST00000297814.2 - 0 4520 RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000334204.2_3'UTR|KIF27_ENST00000413982.1_3'UTR|RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 NA NA ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591) cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 AAAACTCCCCAAATATATATA 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY237536 CCDS6665.1, CCDS65071.1, CCDS65072.1 9q21.32 2008-03-03 ENSG00000165115 ENSG00000165115 55582 Kinesins 18632 protein-coding gene gene with protein product 611253 NA Standard NM_017576 NM_017576 NA Approved DKFZp434D0917 uc004ana.4 Q86VH2 OTTHUMG00000020109 ENST00000297814.2:c.*171T>C chr9.hg19:g.86451745A>G NA B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54 hg19 CCDS6665.1 0.02 -0.263093 CCCxAAT COVERED NOVEL KIF27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052861.1 1 5.618624 KEEP 0 3 92 51 1593 AA 1 0.693668 0 - 4 47 113 1 0 8.096938 26 60 773 105 ENST00000297814.2 0.133333 0.693668 GOLM1 51280 __UNKNOWN__ __UNKNOWN__ 9 88641380 88641380 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:88641380T>G ENST00000388712.3 - 0 2726 GOLM1_ENST00000388711.3_3'UTR NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 NA NA nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 tactcgggagtctgtgtgagg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF236056 CCDS35054.1 9q21.33 2012-12-13 2007-07-30 2007-07-30 ENSG00000135052 ENSG00000135052 51280 15451 protein-coding gene gene with protein product 606804 golgi phosphoprotein 2, chromosome 9 open reading frame 155 GOLPH2, C9orf155 NA 10831838, 18953438, 22542941 Standard NM_177937 NM_016548 NA Approved GP73, FLJ23608, bA379P1.3 uc004aol.3 Q8NBJ4 OTTHUMG00000020130 ENST00000388712.3:c.*1352A>C chr9.hg19:g.88641380T>G NA Q6IAF4|Q9NRB9 hg19 CCDS35054.1 0.02 1.879962 GAGxCTG COVERED NOVEL GOLM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052904.2 7 18.345813 KEEP 0 0 0 61 1833 TT 1 0.984161 0 - 4 60 139 0 0 9.49018 54 60 1596 176 ENST00000388712.3 0.068966 0.984161 SYK 6850 __UNKNOWN__ __UNKNOWN__ 9 93629412 93629412 __UNKNOWN__ Splice_Site SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:93629412G>C ENST00000375754.4 + 7 994 c.e7-1 SYK_ENST00000375746.1_Splice_Site|SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase NA NA activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032) B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GTGGTTTCTAGACTTGGTCAG 0.443 NA T ETV6, ITK MDS, peripheral T-cell lymphoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 9 9q22 6850 spleen tyrosine kinase L 0 174 167 169 NA NA NA 9 NA NA 93629412 2203 4300 6503 SO:0001630 splice_region_variant L28824 CCDS6688.1, CCDS47992.1 9q22 2013-02-14 ENSG00000165025 ENSG00000165025 6850 SH2 domain containing 11491 protein-coding gene gene with protein product 600085 NA 8082894, 1423621 Standard XM_005252147 NA Approved uc004aqz.3 P43405 OTTHUMG00000020200 ENST00000375754.4:c.847-1G>C chr9.hg19:g.93629412G>C NA hg19 CCDS6688.1 0.02 -0.262185 CTAxACT COVERED . . . . . . . . . . G 19.54 3.847213 0.71603 . . ENSG00000165025 ENST00000375754;ENST00000375746 . . . 4.24 4.24 0.50183 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 17.9297 0.88993 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . SYK 92669233 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 6.765000 0.74965 2.652000 0.90054 0.591000 0.81541 . NOVEL SYK-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053018.1 2 4.507163 KEEP 0 0 0 15 511 GG 0.99649 0.691234 0 Intron + 17 60 542 0 0 53.304035 13 60 451 57 ENST00000375754.4 0.566667 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 94267882 94267882 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:94267882G>A NA NA RP11-440G5.2 (78456 upstream) : ROR2 (57490 downstream) NA NA NA gcccgccttggcctcccaaag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.94267882G>A NA hg19 0.02 -0.149127 TTGxCCT COVERED NOVEL 0 2 2.407808 KEEP 2 0 0 8 289 GG 0.99257 0.289832 0 3 47 92 0 0 7.372175 12 60 403 45 0.2 0.292001 FANCC 2176 __UNKNOWN__ __UNKNOWN__ 9 97885730 97885730 __UNKNOWN__ Intron SNP C C T rs568239745 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:97885730C>T ENST00000289081.3 - 10 1251 FANCC_ENST00000464653.1_Intron|FANCC_ENST00000375305.1_Intron NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C NA NA DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) gagaccagcccgggcaacatg 0.498 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia C 9 9q22.3 2176 Fanconi anemia, complementation group C L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) BC006303 CCDS35071.1, CCDS75861.1 9q22.3 2014-09-17 ENSG00000158169 ENSG00000158169 2176 Fanconi anemia, complementation groups 3584 protein-coding gene gene with protein product 613899 FACC NA 1303234 Standard NM_000136 NM_001243743 NA Approved FAC, FA3 uc004avh.3 Q00597 OTTHUMG00000020279 ENST00000289081.3:c.996+1637G>A chr9.hg19:g.97885730C>T NA B1ALR8 hg19 CCDS35071.1 0.02 -0.429802 GCCxGGG COVERED NOVEL FANCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053219.1 8 8.727619 KEEP 0 0 0 29 977 CC 0.999997 0.954488 0 - 4 60 111 0 0 7.20276 40 60 1327 98 ENST00000289081.3 0.090909 0.954491 PTCH1 5727 __UNKNOWN__ __UNKNOWN__ 9 98209594 98209594 __UNKNOWN__ Missense_Mutation SNP G G A rs357564 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:98209594G>A ENST00000331920.6 - 23 4243 c.3944C>T c.(3943-3945)cCc>cTc p.P1315L PTCH1_ENST00000430669.2_Missense_Mutation_p.P1249L|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1164L|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1314L|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1164L|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1164L|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1249L NM_000264.3 NP_000255.2 Q13635 PTC1_HUMAN patched 1 1315 NA P -> L (in dbSNP:rs357564). {ECO:0000269|PubMed:10200051, ECO:0000269|PubMed:10874314, ECO:0000269|PubMed:8647801, ECO:0000269|PubMed:8658145}. brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522) axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372) cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CGGTCTGTAGGGGGGTGGCCA 0.667 NA G||| 1987 0.396765 0.2254 0.4063 5008 , , NA 14889 0.5863 NA 0.3529 False NA ,,, NA NA NA 2504 0.4714 NA NA NA NA 0 GRCh37 CM056376 PTCH1 M rs357564 G LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO 1009,3215 149,711,1252 36 44 42 NA 3944,3746,3941,3491,3491,3491,3491 4.8 1 9 dbSNP_79 42 2752,5592 483,1786,1903 yes missense,missense,missense,missense,missense,missense,missense PTCH1 NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1 98,98,98,98,98,98,98 632,2497,3155 AA,AG,GG NA 32.9818,23.8873,29.9252 probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging 1315/1448,1249/1382,1314/1447,1164/1297,1164/1297,1164/1297,1164/1297 98209594 3761,8807 2112 4172 6284 SO:0001583 missense AI494442 CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1 9q22.1-q31 2014-09-17 2010-06-24 2006-09-26 ENSG00000185920 ENSG00000185920 5727 9585 protein-coding gene gene with protein product 601309 patched (Drosophila) homolog, patched homolog (Drosophila), patched homolog 1 (Drosophila) NBCCS, PTCH NA 8658145 Standard NM_000264 NM_001083603 NA Approved BCNS uc004avk.4 Q13635 OTTHUMG00000020280 ENST00000331920.6:c.3944C>T chr9.hg19:g.98209594G>A ENSP00000332353:p.Pro1315Leu NA A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7 hg19 CCDS6714.1 0.02 2.999701 TAGxGGG COVERED 833 0.3814102564102564 109 0.22154471544715448 139 0.3839779005524862 325 0.5681818181818182 260 0.34300791556728233 G 26.2 4.715015 0.89112 0.238873 0.329818 ENSG00000185920 ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274 D;D;D;D;D;D;D 0.91011 -2.76;-2.74;-2.73;-2.73;-2.74;-2.73;-2.77 4.83 4.83 0.62350 . 0.055734 0.64402 D 0.000001 T 0.00012 0.0000 M 0.62723 1.935 0.09310 P 0.9999999999746184 P;P;P 0.51351 0.944;0.944;0.906 P;P;B 0.52957 0.646;0.714;0.444 T 0.29792 -1.0000 9 0.34782 T 0.22 -23.7809 18.1026 0.89510 0.0:0.0:1.0:0.0 rs357564;rs701002;rs52794414;rs357564 1249;1314;1315 Q13635-3;Q13635-2;Q13635 .;.;PTC1_HUMAN L 1315;1249;1164;1164;1249;107;1164;1314 ENSP00000332353:P1315L;ENSP00000389744:P1249L;ENSP00000399981:P1164L;ENSP00000396135:P1164L;ENSP00000410287:P1249L;ENSP00000414823:P1164L;ENSP00000364423:P1314L ENSP00000332353:P1315L P - 2 0 PTCH1 97249415 1.000000 0.71417 1.000000 0.80357 0.953000 0.61014 9.405000 0.97313 2.506000 0.84524 0.655000 0.94253 CCC NOVEL PTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053229.2 1 18.957938 KEEP 0 0 0 63 2148 GG 1 0.999995 0 - 6 60 183 0 0 11.0381 105 60 3531 233 ENST00000331920.6 0.054054 0.999995 PTCH1 5727 __UNKNOWN__ __UNKNOWN__ 9 98239190 98239190 __UNKNOWN__ Intron SNP G G C rs574688 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:98239190G>C ENST00000331920.6 - 11 1803 PTCH1_ENST00000430669.2_Intron|PTCH1_ENST00000421141.1_Intron|PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000429896.2_Intron|PTCH1_ENST00000418258.1_Intron|PTCH1_ENST00000437951.1_Intron NM_000264.3 NP_000255.2 Q13635 PTC1_HUMAN patched 1 NA NA brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522) axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372) cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) ATGCAATTCAGATGATTCTAA 0.458 NA G||| 815 0.16274 0.0151 0.2349 5008 , , NA 19700 0.0903 NA 0.2744 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 G ,,,,,, 259,4147 141.9+/-177.2 9,241,1953 77 59 65 NA ,,,,,, -0.6 0 9 dbSNP_83 65 2257,6343 349.2+/-327.3 286,1685,2329 no intron,intron,intron,intron,intron,intron,intron PTCH1 NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1 ,,,,,, 295,1926,4282 CC,CG,GG NA 26.2442,5.8783,19.3449 ,,,,,, ,,,,,, 98239190 2516,10490 2203 4300 6503 SO:0001627 intron_variant AI494442 CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1 9q22.1-q31 2014-09-17 2010-06-24 2006-09-26 ENSG00000185920 ENSG00000185920 5727 9585 protein-coding gene gene with protein product 601309 patched (Drosophila) homolog, patched homolog (Drosophila), patched homolog 1 (Drosophila) NBCCS, PTCH NA 8658145 Standard NM_000264 NM_001083603 NA Approved BCNS uc004avk.4 Q13635 OTTHUMG00000020280 ENST00000331920.6:c.1504-51C>G chr9.hg19:g.98239190G>C NA A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7 hg19 CCDS6714.1 0.02 -0.324578 TCAxATG COVERED NOVEL PTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053229.2 0 19.262884 KEEP 0 0 0 64 2302 GG 1 0.835716 0 - 3 60 106 0 0 7.51085 34 60 1141 141 ENST00000331920.6 0.081081 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 101050343 101050343 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:101050343G>A NA NA TBC1D2 (32428 upstream) : GABBR2 (47 downstream) NA NA NA GATCTGACCTGCATTTTGGGA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.101050343G>A NA hg19 0.02 -0.192815 CCTxCAT COVERED NOVEL 0 1 4.514764 KEEP 0 0 0 15 546 GG 0.99649 0.45615 0 15 60 404 0 0 41.556626 7 60 238 57 0.681818 0.457757 GALNT12 79695 __UNKNOWN__ __UNKNOWN__ 9 101583642 101583642 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:101583642A>G ENST00000375011.3 + 2 371 NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN polypeptide N-acetylgalactosaminyltransferase 12 NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) ggtggctcacacctgtaatcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB078146 CCDS6737.1 9q22.33 2014-03-13 2014-03-13 ENSG00000119514 ENSG00000119514 79695 2.4.1.41 Glycosyltransferase family 2 domain containing 19877 protein-coding gene gene with protein product polypeptide GalNAc transferase 12 610290 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) NA 12135769 Standard NM_024642 NM_024642 NA Approved GalNAc-T12 uc004ayz.3 Q8IXK2 OTTHUMG00000020348 ENST00000375011.3:c.372-1896A>G chr9.hg19:g.101583642A>G NA Q5TCF7|Q8NG54|Q96CT9|Q9H771 hg19 CCDS6737.1 0.02 -0.122773 CACxCCT COVERED NOVEL GALNT12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053382.1 5 2.406246 KEEP 0 0 0 8 240 AA 0.99257 0.194853 0 + 3 60 103 0 0 8.573154 11 60 317 31 ENST00000375011.3 0.214286 0.196312 GRIN3A 116443 __UNKNOWN__ __UNKNOWN__ 9 104432873 104432873 __UNKNOWN__ Silent SNP T T G rs942142 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:104432873T>G ENST00000361820.3 - 3 2421 c.1821A>C c.(1819-1821)gcA>gcC p.A607A NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 607 NA calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193) CATTTTTCCATGCTCCATACT 0.483 NA G||| 1339 0.267372 0.1241 0.3617 5008 , , NA 21363 0.2183 NA 0.4056 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 G 789,3617 752.7+/-412.3 73,643,1487 94 79 84 NA 1821 1.3 1 9 dbSNP_86 84 3550,5050 630.2+/-398.3 726,2098,1476 no coding-synonymous GRIN3A NM_133445.2 799,2741,2963 GG,GT,TT NA 41.2791,17.9074,33.3615 607/1116 104432873 4339,8667 2203 4300 6503 SO:0001819 synonymous_variant CCDS6758.1 9q31.1 2012-08-29 ENSG00000198785 ENSG00000198785 116443 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 16767 protein-coding gene gene with protein product 606650 NA Standard NM_133445 NA Approved GluN3A uc004bbp.2 Q8TCU5 OTTHUMG00000020387 ENST00000361820.3:c.1821A>C chr9.hg19:g.104432873T>G NA B3DLF9|Q5VTR3|Q8TF29|Q8WXI6 hg19 CCDS6758.1 0.02 -0.412152 CCAxGCT COVERED NOVEL GRIN3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053453.1 0 23.705524 KEEP 0 1 35 91 2853 TT 1 0.941741 0 - 4 60 141 0 0 10.06969 43 60 1262 195 ENST00000361820.3 0.085106 0.941741 RP11-341A22.2 0 __UNKNOWN__ __UNKNOWN__ 9 106049722 106049722 __UNKNOWN__ lincRNA SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:106049722G>T ENST00000411575.1 - 0 357 NA NA NA gaatgtgggggtgaaagggag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000411575.1: chr9.hg19:g.106049722G>T NA hg19 0.02 -0.307034 GGGxTGA COVERED NOVEL RP11-341A22.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000053466.1 7 4.815317 KEEP 2 0 0 16 563 GG 0.997832 0.79851 0 - 3 52 93 0 0 6.453333 28 60 945 80 ENST00000411575.1 0.096774 0.800245 ABCA1 19 __UNKNOWN__ __UNKNOWN__ 9 107544700 107544700 __UNKNOWN__ 3'UTR SNP C C T rs363717 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:107544700C>T ENST00000374736.3 - 0 9076 NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 NA NA apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281) endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599) TATTCAAATTCTGGAAAAAGT 0.279 NA T||| 4295 0.857628 0.9433 0.8948 5008 , , NA 13817 0.8036 NA 0.7942 False NA ,,, NA NA NA 2504 0.8364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ012376 CCDS6762.1 9q31 2014-03-14 ENSG00000165029 ENSG00000165029 19 ATP binding cassette transporters / subfamily A 29 protein-coding gene gene with protein product Tangier disease 600046 ABC1, HDLDT1 NA 8088782, 10431236, 10431237, 10431238 Standard NM_005502 NM_005502 NA Approved TGD uc004bcl.3 O95477 OTTHUMG00000020417 ENST00000374736.3:c.*1896G>A chr9.hg19:g.107544700C>T NA Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09 hg19 CCDS6762.1 0.02 -0.245602 ATTxTGG COVERED NOVEL ABCA1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053491.1 0 14.146015 KEEP 0 0 0 47 1651 CC 1 0.641347 0 - 3 60 91 0 0 6.393527 25 60 809 87 ENST00000374736.3 0.107143 0.641347 RAD23B 5887 __UNKNOWN__ __UNKNOWN__ 9 110049091 110049091 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:110049091T>C ENST00000358015.3 + 1 417 RAD23B_ENST00000416373.2_Intron NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) NA NA DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942) damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697) breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 tggtggctcatgcctgtaatc 0.468 NA Direct reversal of damage;Nucleotide excision repair (NER) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6769.1, CCDS59138.1 9q31.2 2008-07-21 2001-11-28 ENSG00000119318 ENSG00000119318 5887 9813 protein-coding gene gene with protein product XP-C repair complementing protein, XP-C repair complementing complex 58 kDa 600062 RAD23 (S. cerevisiae) homolog B NA 7851894, 8168482 Standard NM_002874 NM_002874 NA Approved HHR23B, P58, HR23B uc004bde.3 P54727 OTTHUMG00000020446 ENST00000358015.3:c.66+3115T>C chr9.hg19:g.110049091T>C NA B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0 hg19 CCDS6769.1 0.02 -0.236744 TCAxGCC COVERED NOVEL RAD23B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053548.1 7 2.708232 KEEP 1 0 0 9 282 TT 0.99254 0.607839 0 + 3 60 101 0 0 7.792724 18 60 506 55 ENST00000358015.3 0.142857 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 110312932 110312932 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:110312932G>C NA NA KLF4 (61005 upstream) : RNU6-996P (112488 downstream) NA NA NA aggtgtgagcgaccatgcctg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.110312932G>C NA hg19 0.02 -0.262386 AGCxACC COVERED NOVEL 0 3 2.242097 KEEP 0 1 33 19 643 GG 0.999863 0.693573 0 3 60 96 0 0 6.802471 27 60 805 67 0.1 0.693668 IKBKAP 8518 __UNKNOWN__ __UNKNOWN__ 9 111685447 111685447 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:111685447C>T ENST00000374647.5 - 6 774 IKBKAP_ENST00000537196.1_Intron NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein NA NA chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023) phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871) NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 tccaggagttcgagaccagcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044195 CCDS6773.1 9q31 2014-09-17 2003-12-02 ENSG00000070061 ENSG00000070061 8518 Elongator acetyltransferase complex subunits 5959 protein-coding gene gene with protein product elongator acetyltransferase complex subunit 1 603722 dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III) DYS NA 9751059, 11179008 Standard NM_003640 NA Approved IKAP, TOT1, ELP1, IKI3 uc004bdm.4 O95163 OTTHUMG00000020465 ENST00000374647.5:c.467-240G>A chr9.hg19:g.111685447C>T NA Q5JSV2|Q9H327|Q9UG87 hg19 CCDS6773.1 0.02 -0.192979 GTTxGAG COVERED NOVEL IKBKAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053574.1 9 2.392085 KEEP 0 0 0 8 254 CC 0.99257 0.454356 0 - 3 60 89 0 0 6.661428 17 60 545 42 ENST00000374647.5 0.15 0.457757 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113233549 113233549 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:113233549C>T ENST00000374469.1 - 16 3193 SVEP1_ENST00000467821.1_Intron|SVEP1_ENST00000302728.8_Intron|SVEP1_ENST00000401783.2_Intron Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AAATATGTTTCATTTCAATAT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.2929+94G>A chr9.hg19:g.113233549C>T NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 -0.245598 TTTxATT COVERED NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 1 12.940604 KEEP 0 0 0 43 1473 CC 1 0.641347 0 - 4 60 103 0 0 7.294284 23 60 761 91 ENST00000374469.1 0.148148 0.641347 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113234507 113234507 __UNKNOWN__ Missense_Mutation SNP T T C rs10817025 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:113234507T>C ENST00000374469.1 - 15 2890 c.2627A>G c.(2626-2628)aAg>aGg p.K876R SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.K899R|SVEP1_ENST00000401783.2_Missense_Mutation_p.K899R Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 899 NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCGTGAGGACTTGGCATTGCC 0.423 NA C||| 997 0.199081 0.1354 0.2147 5008 , , NA 18190 0.0754 NA 0.2893 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 C ARG/LYS 644,3256 58,528,1364 153 156 155 NA 2696 4.2 1 9 dbSNP_120 155 2497,5801 391,1715,2043 yes missense SVEP1 NM_153366.3 26 449,2243,3407 CC,CT,TT NA 30.0916,16.5128,25.7501 benign 899/3572 113234507 3141,9057 1950 4149 6099 SO:0001583 missense AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.2627A>G chr9.hg19:g.113234507T>C ENSP00000363593:p.Lys876Arg NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 -0.350805 GACxTGG COVERED 418 0.19139194139194138 76 0.15447154471544716 88 0.2430939226519337 36 0.06293706293706294 218 0.287598944591029 C 0.012 -1.676236 0.00751 0.165128 0.300916 ENSG00000165124 ENST00000401783;ENST00000374469;ENST00000302728 T;T;T 0.77877 -1.01;-1.02;-1.13 5.25 4.15 0.48705 . 0.396625 0.29438 N 0.012160 T 0.00012 0.0000 N 0.00538 -1.39 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.10291 -1.0636 9 0.11794 T 0.64 . 7.1732 0.25730 0.0:0.5639:0.2523:0.1837 rs10817025;rs17806789;rs52830999;rs56677016;rs10817025 899;899 E9PBN8;Q4LDE5 .;SVEP1_HUMAN R 899;876;899 ENSP00000384917:K899R;ENSP00000363593:K876R;ENSP00000304118:K899R ENSP00000304118:K899R K - 2 0 SVEP1 112274328 0.926000 0.31397 0.960000 0.40013 0.121000 0.20230 0.716000 0.25836 1.247000 0.43917 -0.128000 0.14901 AAG NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 2 19.558488 KEEP 0 0 0 65 2045 TT 1 0.877708 0 - 3 60 100 0 0 6.841413 36 60 1060 142 ENST00000374469.1 0.076923 0.877708 ZNF483 158399 __UNKNOWN__ __UNKNOWN__ 9 114306111 114306111 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:114306111A>G ENST00000309235.5 + 0 3054 ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 tgttgcccagactggtcttga 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075842 CCDS35105.1, CCDS35106.1 9q32 2013-01-09 ENSG00000173258 ENSG00000173258 158399 Zinc fingers, C2H2-type, -, -, - 23384 protein-coding gene gene with protein product NA Standard XM_088567 NM_001007169 NA Approved ZKSCAN16, KIAA1962, ZSCAN48 uc004bff.2 Q8TF39 OTTHUMG00000020490 ENST00000309235.5:c.*661A>G chr9.hg19:g.114306111A>G NA Q5VZN2|Q8NAE1 hg19 CCDS35106.1 0.02 -0.192678 CAGxCTG COVERED NOVEL ZNF483-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053641.1 1 3.310024 KEEP 0 0 0 11 345 AA 0.993072 0.454585 0 + 3 60 99 0 0 7.894713 14 60 371 40 ENST00000309235.5 0.176471 0.457757 PTGR1 22949 __UNKNOWN__ __UNKNOWN__ 9 114339874 114339874 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:114339874T>C ENST00000407693.2 - 7 914 PTGR1_ENST00000238248.3_Intron|PTGR1_ENST00000309195.5_Intron|ZNF483_ENST00000358151.4_3'UTR|PTGR1_ENST00000538962.1_Intron NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 NA NA arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 cctgtaatcctagcactttgg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(200;132 2151 7551 19220 46064) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D49387 CCDS6779.1, CCDS55331.1 9q32 2008-06-04 2008-06-02 2008-06-02 ENSG00000106853 ENSG00000106853 22949 1.3.1.74, 1.3.1.48 18429 protein-coding gene gene with protein product zinc binding alcohol dehydrogenase domain containing 3 601274 leukotriene B4 12-hydroxydehydrogenase LTB4DH NA 8576264, 17449869 Standard NM_001146109 NA Approved ZADH3 uc004bfh.2 Q14914 OTTHUMG00000020493 ENST00000407693.2:c.651+1201A>G chr9.hg19:g.114339874T>C NA A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6 hg19 CCDS6779.1 0.02 1.608054 TCCxAGC COVERED NOVEL PTGR1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053647.2 8 9.259945 KEEP 1 1 38 44 1337 TT 1 0.999804 0 - 8 60 267 0 0 19.006751 77 60 2234 178 ENST00000407693.2 0.094118 0.999804 C9orf84 158401 __UNKNOWN__ __UNKNOWN__ 9 114553017 114553017 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:114553017A>G ENST00000374283.5 - 2 190 C9orf84_ENST00000374287.3_Intron Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 NA NA breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 tagtagagacagggtttcacc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833535 CCDS6781.3, CCDS43863.1 9q32 2012-03-16 ENSG00000165181 ENSG00000165181 158401 26535 protein-coding gene gene with protein product NA Standard NM_173521 XM_005251738 NA Approved FLJ32779 uc004bfr.3 Q5VXU9 OTTHUMG00000020495 ENST00000374283.5:c.45+636T>C chr9.hg19:g.114553017A>G NA A2A2V3|Q2M1H8|Q96M73 hg19 0.02 -0.17539 GACxGGG COVERED NOVEL C9orf84-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053657.2 8 2.708403 KEEP 4 0 0 9 287 AA 0.99257 0.384528 0 - 3 39 92 0 1 7.279379 13 60 375 34 ENST00000374283.5 0.1875 0.387407 FKBP15 23307 __UNKNOWN__ __UNKNOWN__ 9 115955739 115955739 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:115955739A>G ENST00000238256.3 - 11 1183 NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa NA NA endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457) actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 acaggtgtgaaccaccatgcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 40 39 39 NA NA NA 9 NA NA 115955739 1929 4115 6044 SO:0001627 intron_variant AB014574 CCDS48007.1 9q33.1 2014-05-09 2006-10-31 2006-10-31 ENSG00000119321 ENSG00000119321 23307 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 23397 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 76, WASP and FKBP-like protein KIAA0674 KIAA0674 NA 16756961, 20376207 Standard NM_015258 NM_015258 NA Approved PPP1R76, FKBP133, WAFL uc004bgs.2 Q5T1M5 OTTHUMG00000020518 ENST00000238256.3:c.1065+32T>C chr9.hg19:g.115955739A>G NA Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0 hg19 CCDS48007.1 0.02 -0.368362 TGAxCCA COVERED NOVEL FKBP15-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 7 12.037354 KEEP 0 0 0 40 1301 AA 1 0.899314 0 - 3 60 108 0 0 7.639674 36 60 1075 109 ENST00000238256.3 0.076923 0.899314 SLC31A1 1317 __UNKNOWN__ __UNKNOWN__ 9 116023532 116023532 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:116023532A>G ENST00000374212.4 + 0 1504 CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Intron NM_001859.3 NP_001850.1 O15431 COPT1_HUMAN solute carrier family 31 (copper transporter), member 1 NA NA cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088) breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526) acaagagtgaaactccatctc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(135;1049 1799 4519 17564 28677) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U83460 CCDS6789.1 9q32 2013-07-17 2013-07-17 ENSG00000136868 ENSG00000136868 1317 Solute carriers 11016 protein-coding gene gene with protein product copper transport 1 homolog (S. cerevisiae) 603085 COPT1 NA 9207117 Standard NM_001859 NM_001859 NA Approved hCTR1, CTR1 uc004bgu.3 O15431 OTTHUMG00000020519 ENST00000374212.4:c.*779A>G chr9.hg19:g.116023532A>G NA A8K8Z6|Q53GR5|Q5T1M4 hg19 CCDS6789.1 0.02 -0.420984 TGAxACT COVERED NOVEL SLC31A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053715.1 6 2.943703 KEEP 2 1 35 22 694 AA 0.999892 0.9483 0 + 3 60 106 2 1 7.439834 36 60 1066 102 ENST00000374212.4 0.076923 0.948402 C5 727 __UNKNOWN__ __UNKNOWN__ 9 123770769 123770769 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:123770769C>A ENST00000223642.1 - 18 2294 c.2265G>T c.(2263-2265)aaG>aaT p.K755N NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 755 NA activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579) chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028) GTAACAGGGTCTTCATGTCTG 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 96 90 92 NA NA NA 9 NA NA 123770769 2203 4300 6503 SO:0001583 missense M57729 CCDS6826.1 9q33-q34 2014-09-17 ENSG00000106804 ENSG00000106804 727 Complement system, Endogenous ligands 1331 protein-coding gene gene with protein product prepro-C5, C5a anaphylatoxin 120900 NA Standard NM_001735 NM_001735 NA Approved CPAMD4, C5a, C5b uc004bkv.3 P01031 OTTHUMG00000020579 ENST00000223642.1:c.2265G>T chr9.hg19:g.123770769C>A ENSP00000223642:p.Lys755Asn NA Q14CJ0|Q27I61 hg19 CCDS6826.1 0.02 -0.394651 GGTxTTC COVERED . . . . . . . . . . C 2.126 -0.400171 0.04865 . . ENSG00000106804 ENST00000223642;ENST00000430906 T 0.32023 1.47 5.21 2.29 0.28610 . . . . . T 0.22820 0.0551 L 0.48877 1.53 0.09310 N 1 B 0.21381 0.055 B 0.14023 0.01 T 0.20874 -1.0262 9 0.25106 T 0.35 . 5.546 0.17063 0.1442:0.6295:0.0:0.2264 . 755 P01031 CO5_HUMAN N 755;826 ENSP00000223642:K755N ENSP00000223642:K755N K - 3 2 C5 122810590 0.000000 0.05858 0.001000 0.08648 0.052000 0.14988 0.150000 0.16263 0.701000 0.31803 -0.188000 0.12872 AAG NOVEL C5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053844.1 0 12.64167 KEEP 0 0 0 42 1521 CC 1 0.92664 0 - 31 60 871 0 0 89.756589 14 60 476 123 ENST00000223642.1 0.688889 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 125524063 125524063 __UNKNOWN__ IGR SNP G G T rs547745111 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:125524063G>T NA NA OR1L6 (11001 upstream) : OR5C1 (27086 downstream) NA NA NA acagaaattagaacaaactgt 0.408 NA g||| 3 0.000599042 0.0023 0 5008 , , NA 22694 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.125524063G>T NA hg19 0.02 1.199254 TTAxAAC COVERED NOVEL 0 8 5.186449 KEEP 4 2 62 39 1386 GG 1 0.999317 0 11 60 300 0 0 21.750436 63 60 2092 145 0.148649 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 125524098 125524098 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:125524098C>T NA NA OR1L6 (11036 upstream) : OR5C1 (27051 downstream) NA NA NA tgcaatcaaactagaactcag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.125524098C>T NA hg19 0.02 2.823283 AAAxTAG COVERED NOVEL 0 16 14.181885 KEEP 2 1 34 59 2116 CC 1 0.999999 0 6 60 172 1 0 9.852298 109 60 3776 269 0.052174 0.999999 DENND1A 57706 __UNKNOWN__ __UNKNOWN__ 9 126162901 126162901 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:126162901A>C ENST00000373624.2 - 20 1779 DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000373620.3_3'UTR|DENND1A_ENST00000542603.1_Intron NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A NA NA endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488) cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 actctgttgcacaggctggag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046828 CCDS35133.1, CCDS35134.1 9q34.11 2012-10-03 2005-08-17 2005-08-17 ENSG00000119522 ENSG00000119522 57706 DENN/MADD domain containing 29324 protein-coding gene gene with protein product 613633 KIAA1608 KIAA1608 NA 10997877 Standard NM_024820 XM_005252109 NA Approved FLJ21129, FAM31A uc004bnz.1 Q8TEH3 OTTHUMG00000020643 ENST00000373624.2:c.1577+2779T>G chr9.hg19:g.126162901A>C NA A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796 hg19 CCDS35133.1 0.02 -0.175385 TGCxCAG COVERED NOVEL DENND1A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053997.1 5 2.406235 KEEP 0 0 0 8 238 AA 0.99257 0.384528 0 - 3 60 96 0 0 7.679493 13 60 374 33 ENST00000373624.2 0.1875 0.387407 MAPKAP1 79109 __UNKNOWN__ __UNKNOWN__ 9 128268743 128268743 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:128268743G>A ENST00000350766.3 - 8 1260 MAPKAP1_ENST00000373498.1_Intron|MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000265960.3_Intron|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Intron NM_024117.3 NP_077022.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016) endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 CTGAAACAGCGAATTTAACAT 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 31 30 30 NA NA NA 9 NA NA 128268743 2203 4300 6503 SO:0001627 intron_variant M37191 CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1 9q34.11 2008-02-05 ENSG00000119487 ENSG00000119487 79109 18752 protein-coding gene gene with protein product stress-activated protein kinase-interacting 1 610558 NA 15363842 Standard NM_001006620 NA Approved MGC2745, SIN1, MIP1 uc004bpv.3 Q9BPZ7 OTTHUMG00000020683 ENST00000350766.3:c.959-21881C>T chr9.hg19:g.128268743G>A NA A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2 hg19 CCDS6864.1 0.02 -0.30695 AGCxAAT COVERED NOVEL MAPKAP1-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000054090.1 1 9.598281 KEEP 0 0 0 32 992 GG 0.999997 0.800243 0 - 4 60 101 0 0 6.618626 31 60 969 85 ENST00000350766.3 0.114286 0.800245 MAPKAP1 79109 __UNKNOWN__ __UNKNOWN__ 9 128359278 128359278 __UNKNOWN__ Intron SNP T T C rs546989312 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:128359278T>C ENST00000394060.3 - 5 828 MAPKAP1_ENST00000373498.1_Intron|MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000265960.3_Intron|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000350766.3_Intron NM_001006618.1 NP_001006619.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016) endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 cgcggtggcttatgcctgtaa 0.453 NA T||| 2 0.000399361 0.0015 0 5008 , , NA 12256 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M37191 CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1 9q34.11 2008-02-05 ENSG00000119487 ENSG00000119487 79109 18752 protein-coding gene gene with protein product stress-activated protein kinase-interacting 1 610558 NA 15363842 Standard NM_001006620 NA Approved MGC2745, SIN1, MIP1 uc004bpv.3 Q9BPZ7 OTTHUMG00000020683 ENST00000394060.3:c.499-11272A>G chr9.hg19:g.128359278T>C NA A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2 hg19 CCDS48020.1 0.02 1.891951 GCTxATG COVERED NOVEL MAPKAP1-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000054086.2 5 10.224541 KEEP 0 0 0 34 1009 TT 0.999998 0.995685 0 - 5 60 169 0 0 11.971658 51 60 1428 114 ENST00000394060.3 0.089286 0.995687 FAM129B 64855 __UNKNOWN__ __UNKNOWN__ 9 130341078 130341078 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:130341078T>G ENST00000373314.3 - 1 68 NM_001035534.1 NP_001030611.1 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B NA NA negative regulation of apoptotic process (GO:0043066) actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 tgaggctgcattgagctatga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151783 CCDS35144.1, CCDS35145.1 9q34.13 2010-02-01 2006-11-23 2006-11-23 ENSG00000136830 ENSG00000136830 64855 25282 protein-coding gene gene with protein product 614045 chromosome 9 open reading frame 88 C9orf88 NA 14702039, 19362540 Standard NM_022833 XM_005252135 NA Approved DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA uc004brh.3 Q96TA1 OTTHUMG00000020705 ENST00000373314.3:c.16+122A>C chr9.hg19:g.130341078T>G NA Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35 hg19 CCDS35144.1 0.02 -0.350754 GCAxTGA COVERED NOVEL FAM129B-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054195.1 4 19.254688 KEEP 0 0 0 64 1902 TT 1 0.877708 0 - 3 60 97 0 0 6.541559 36 60 1012 114 ENST00000373314.3 0.076923 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 132077124 132077124 __UNKNOWN__ IGR SNP T T C rs10988318 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:132077124T>C NA NA RP11-344B5.2 (29117 upstream) : C9orf106 (6170 downstream) NA NA NA ccgcccgccttggcctcccaa 0.507 NA T||| 725 0.144768 0.1384 0.1052 5008 , , NA 16207 0.37 NA 0.0099 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.132077124T>C NA hg19 0.02 -0.24556 CCTxGGC COVERED NOVEL 0 9 3.310044 KEEP 3 0 0 11 343 TT 0.993072 0.636904 0 3 60 102 0 0 7.54247 24 60 701 66 0.111111 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 132358296 132358296 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:132358296A>G NA NA AL391056.1 (4455 upstream) : NTMT1 (12866 downstream) NA NA NA gattacaggcatgagccaccg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.132358296A>G NA hg19 0.02 -0.105225 GGCxTGA UNCOVERED NOVEL 0 4 2.707955 KEEP 0 0 0 9 278 AC 0.992708 0.138812 0 3 60 92 0 0 7.979135 7 60 201 29 0.3 0.139832 C9orf78 51759 __UNKNOWN__ __UNKNOWN__ 9 132593057 132593057 __UNKNOWN__ Intron SNP A A G rs554007494 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:132593057A>G ENST00000372447.3 - 6 596 C9orf78_ENST00000461762.1_Intron NM_016520.2 NP_057604.1 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2) 13 Ovarian(14;0.00556) ccaaagtgctaggattacagg 0.527 NA A||| 1 0.000199681 8e-04 0 5008 , , NA 17959 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017570 CCDS6931.1 9q34.2 2012-03-16 ENSG00000136819 ENSG00000136819 51759 24932 protein-coding gene gene with protein product Hepatocellular carcinoma-associated antigen 59 NA 11042152, 12097419 Standard NM_016520 NM_016520 NA Approved HSPC220, HCA59 uc004byp.3 Q9NZ63 OTTHUMG00000020796 ENST00000372447.3:c.542+92T>C chr9.hg19:g.132593057A>G NA B3KPX8|Q8WVU6|Q9NT39 hg19 CCDS6931.1 0.02 -0.43847 GCTxGGA COVERED NOVEL C9orf78-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054625.1 7 7.63057 KEEP 0 1 33 37 1112 AA 1 0.959859 0 - 5 60 173 0 0 12.870853 40 60 1131 104 ENST00000372447.3 0.111111 0.959859 C9orf78 51759 __UNKNOWN__ __UNKNOWN__ 9 132593078 132593078 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:132593078C>T ENST00000372447.3 - 6 596 C9orf78_ENST00000461762.1_Intron NM_016520.2 NP_057604.1 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2) 13 Ovarian(14;0.00556) catgagccaccgtgcctggcc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017570 CCDS6931.1 9q34.2 2012-03-16 ENSG00000136819 ENSG00000136819 51759 24932 protein-coding gene gene with protein product Hepatocellular carcinoma-associated antigen 59 NA 11042152, 12097419 Standard NM_016520 NM_016520 NA Approved HSPC220, HCA59 uc004byp.3 Q9NZ63 OTTHUMG00000020796 ENST00000372447.3:c.542+71G>A chr9.hg19:g.132593078C>T NA B3KPX8|Q8WVU6|Q9NT39 hg19 CCDS6931.1 0.02 1.474307 CACxGTG COVERED NOVEL C9orf78-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054625.1 6 7.787265 KEEP 0 2 37 39 1318 CC 1 0.986153 0 - 4 60 121 0 0 7.858162 49 60 1601 126 ENST00000372447.3 0.075472 0.986153 GPR107 57720 __UNKNOWN__ __UNKNOWN__ 9 132837791 132837791 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:132837791G>C ENST00000347136.6 + 2 648 GPR107_ENST00000372410.3_Intron|GPR107_ENST00000372406.1_Intron NM_020960.4 NP_066011.2 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) tcccaaagtggtgggattaca 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF376725 CCDS35162.1, CCDS48041.1, CCDS48042.1 9q34.2 2014-01-30 ENSG00000148358 ENSG00000148358 57720 GPCR / Unclassified : 7TM orphan receptors 17830 protein-coding gene gene with protein product NA Standard NM_020960 NA Approved KIAA1624, RP11-88G17, FLJ20998, LUSTR1 uc004bzd.2 Q5VW38 OTTHUMG00000020804 ENST00000347136.6:c.142-124G>C chr9.hg19:g.132837791G>C NA A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8 hg19 CCDS35162.1 0.02 -0.131527 GTGxTGG COVERED NOVEL GPR107-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054645.1 1 2.707856 KEEP 0 0 0 9 286 GG 0.99254 0.227464 0 + 3 60 96 0 0 7.98264 10 60 320 30 ENST00000347136.6 0.230769 0.229173 LAMC3 10319 __UNKNOWN__ __UNKNOWN__ 9 133952834 133952834 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:133952834C>T ENST00000361069.4 + 22 3910 LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 NA NA astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578) structural molecule activity (GO:0005198) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) gaggccgaggcgggtggatca 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF041835 CCDS6938.1 9q31-q34 2013-03-01 ENSG00000050555 ENSG00000050555 10319 Laminins 6494 protein-coding gene gene with protein product 604349 NA 10225960 Standard NM_006059 NM_006059 NA Approved DKFZp434E202 uc004caa.1 Q9Y6N6 OTTHUMG00000020819 ENST00000361069.4:c.3777+113C>T chr9.hg19:g.133952834C>T NA B1APX9|B1APY0|Q59H72 hg19 CCDS6938.1 0.02 -0.175383 AGGxGGG COVERED NOVEL LAMC3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054717.3 2 3.610248 KEEP 2 0 0 12 370 CC 0.994391 0.385234 0 + 3 60 85 0 1 6.411387 15 60 454 43 ENST00000361069.4 0.166667 0.387407 SETX 23064 __UNKNOWN__ __UNKNOWN__ 9 135150616 135150616 __UNKNOWN__ Intron SNP T T C rs2296865 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:135150616T>C ENST00000224140.5 - 23 7283 SETX_ENST00000477049.1_Intron|SETX_ENST00000372169.2_Intron|SETX_ENST00000393220.1_Intron NM_015046.5 NP_055861.3 Q7Z333 SETX_HUMAN senataxin NA NA cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AACAAGAAAATTGGAAATATT 0.383 NA C||| 1252 0.25 0.2882 0.1398 5008 , , NA 19788 0.4028 NA 0.0964 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 C 1026,3378 719.1+/-408.9 126,774,1302 92 98 96 NA -0.3 0 9 dbSNP_100 96 942,7658 773.7+/-407.7 50,842,3408 no intron SETX NM_015046.5 176,1616,4710 CC,CT,TT NA 10.9535,23.297,15.1338 135150616 1968,11036 2202 4300 6502 SO:0001627 intron_variant AB014525 CCDS6947.1 9q34 2014-09-17 2005-11-29 2005-11-29 ENSG00000107290 ENSG00000107290 23064 445 protein-coding gene gene with protein product 608465 amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1 ALS4, SCAR1 NA 9497266, 11022012 Standard NM_015046 NM_015046 NA Approved KIAA0625, AOA2 uc004cbk.3 Q7Z333 OTTHUMG00000020834 ENST00000224140.5:c.7100+26A>G chr9.hg19:g.135150616T>C NA A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9 hg19 CCDS6947.1 0.02 -0.31571 AAAxTGG COVERED NOVEL SETX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054774.3 3 13.538071 KEEP 0 0 0 45 1366 TT 1 0.818465 0 - 3 60 106 0 0 7.548519 33 60 962 111 ENST00000224140.5 0.083333 0.818465 C9orf9 11092 __UNKNOWN__ __UNKNOWN__ 9 135765081 135765081 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:135765081T>C ENST00000350499.6 + 5 649 C9orf9_ENST00000356311.5_3'UTR|C9orf9_ENST00000372136.3_3'UTR NM_018956.3 NP_061829.3 Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 NA NA cytoplasmic microtubule (GO:0005881) p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) ggattacaggtgtgagccacg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Unknown(1) bone(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6955.1 9q34.13 2012-03-06 ENSG00000165698 ENSG00000165698 11092 1367 protein-coding gene gene with protein product NA Standard NM_018956 NM_018956 NA Approved uc004cby.1 Q96E40 OTTHUMG00000020847 ENST00000350499.6:c.496-263T>C chr9.hg19:g.135765081T>C NA Q9UGQ0 hg19 CCDS6955.1 0.02 1.479192 AGGxGTG COVERED NOVEL C9orf9-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054808.1 16 6.385386 KEEP 0 2 71 46 1382 TT 1 0.999317 0 + 4 60 129 0 0 8.032786 71 60 2107 193 ENST00000350499.6 0.053333 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 136228065 136228065 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:136228065G>A NA NA SURF2 (20 upstream) : SURF4 (259 downstream) NA NA NA TATTTCCCCCGCTCCTGATCA 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 52 52 NA NA NA 9 NA NA 136228065 2203 4300 6503 SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.136228065G>A NA hg19 0.02 1.265739 CCCxCTC COVERED NOVEL 0 2 42.729515 KEEP 0 0 0 142 4966 GG 1 0.999907 0 30 60 888 0 0 77.883281 62 60 2077 326 0.326087 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 136966077 136966077 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:136966077T>C NA NA BRD3 (32420 upstream) : LL09NC01-251B2.3 (31286 downstream) NA NA NA tggctcacgcttgtaatccca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.136966077T>C NA hg19 0.02 -0.376925 CGCxTGT COVERED NOVEL 0 2 3.912292 KEEP 0 0 0 13 428 TT 0.994391 0.90397 0 3 60 105 0 0 7.340769 36 60 1043 80 0.076923 0.909069 SEC16A 9919 __UNKNOWN__ __UNKNOWN__ 9 139341657 139341657 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:139341657G>T ENST00000371706.3 - 25 6197 SEC16A_ENST00000313084.5_Intron|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000313050.7_Intron|SEC16A_ENST00000431893.2_Intron O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) NA NA COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139) breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GACCTGGAGGGGCTGGTGCTC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 8 11 10 NA NA NA 9 NA NA 139341657 1945 4133 6078 SO:0001627 intron_variant AK074565 CCDS55351.1, CCDS75936.1 9q34.3 2007-06-20 2007-06-20 2007-06-20 ENSG00000148396 ENSG00000148396 9919 29006 protein-coding gene gene with protein product 612854 KIAA0310 KIAA0310 NA 9205841 Standard XM_088459 NM_014866 NA Approved p250 uc004chx.3 O15027 OTTHUMG00000020932 ENST00000371706.3:c.6163+21C>A chr9.hg19:g.139341657G>T NA A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1 hg19 0.02 3.05265 AGGxGCT COVERED NOVEL SEC16A-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000055077.1 2 37.60965 KEEP 0 0 0 125 4263 GG 1 0.999987 0 - 32 60 858 0 0 72.868898 74 60 2465 284 ENST00000371706.3 0.301887 0.999987 MAN1B1 11253 __UNKNOWN__ __UNKNOWN__ 9 139995352 139995352 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:139995352A>G ENST00000371589.4 + 7 989 MAN1B1_ENST00000474902.1_Intron NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 NA NA cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) gattacaggcatgagccacca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145732 CCDS7029.1 9q34.3 2014-05-27 ENSG00000177239 ENSG00000177239 11253 6823 protein-coding gene gene with protein product endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase 604346 NA 10409699, 10521544 Standard NM_016219 NM_016219 NA Approved MANA-ER, MRT15 uc004cld.3 Q9UKM7 OTTHUMG00000020978 ENST00000371589.4:c.917-105A>G chr9.hg19:g.139995352A>G NA Q5VSG3|Q9BRS9|Q9Y5K7 hg19 CCDS7029.1 0.02 -0.420971 GGCxTGA COVERED NOVEL MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055294.2 12 5.114441 KEEP 0 0 0 17 517 AA 0.999366 0.947801 0 + 3 60 101 0 0 6.940417 36 60 1055 82 ENST00000371589.4 0.076923 0.948402 MAN1B1 11253 __UNKNOWN__ __UNKNOWN__ 9 139996468 139996468 __UNKNOWN__ Intron SNP T T C rs199642259 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:139996468T>C ENST00000371589.4 + 8 1327 MAN1B1_ENST00000474902.1_Intron NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 NA NA cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CACACATTCATGCTGTTGCAG 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145732 CCDS7029.1 9q34.3 2014-05-27 ENSG00000177239 ENSG00000177239 11253 6823 protein-coding gene gene with protein product endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase 604346 NA 10409699, 10521544 Standard NM_016219 NM_016219 NA Approved MANA-ER, MRT15 uc004cld.3 Q9UKM7 OTTHUMG00000020978 ENST00000371589.4:c.1254+344T>C chr9.hg19:g.139996468T>C NA Q5VSG3|Q9BRS9|Q9Y5K7 hg19 CCDS7029.1 0.02 6.989938 TCAxGCT COVERED NOVEL MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055294.2 6 14.516918 KEEP 4 9 296 152 4588 TT 1 1 0 + 13 60 417 1 0 26.890194 192 60 5504 480 ENST00000371589.4 0.063415 1 EXD3 54932 __UNKNOWN__ __UNKNOWN__ 9 140271131 140271131 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:140271131T>C ENST00000340951.4 - 4 316 EXD3_ENST00000479452.1_Intron|EXD3_ENST00000342129.4_Intron|EXD3_ENST00000475006.1_Intron NM_017820.3 NP_060290.3 Q9NX53 MUT7B_HUMAN exonuclease 3'-5' domain containing 3 NA NA NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 cctgtaatcctagcactttgg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS48066.1, CCDS75942.1 9q34.3 2009-03-04 ENSG00000187609 ENSG00000187609 54932 26023 protein-coding gene gene with protein product NA Standard NM_017820 XM_005266093 NA Approved LOC54932, FLJ20433, mut-7 uc004cmp.2 Q8N9H8 OTTHUMG00000156149 ENST00000340951.4:c.121-3080A>G chr9.hg19:g.140271131T>C NA Q6P1M1|Q8IXT8 hg19 CCDS48066.1 0.02 2.041592 TCCxAGC COVERED NOVEL EXD3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000343182.1 3 3.610751 KEEP 2 0 0 12 368 TT 0.993634 0.957638 0 - 4 60 143 0 0 10.392231 40 60 1087 86 ENST00000340951.4 0.090909 0.963774 DPH7 92715 __UNKNOWN__ __UNKNOWN__ 9 140452018 140452018 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:140452018T>C ENST00000277540.2 - 9 1107 DPH7_ENST00000479650.1_Intron NM_138778.2 NP_620133.1 Q9BTV6 DPH7_HUMAN diphthamide biosynthesis 7 NA NA peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183) NA cgcctgtaattccagcacttt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075115 CCDS7047.1 9q34.3 2013-06-20 2013-06-20 2013-06-20 ENSG00000148399 ENSG00000148399 92715 WD repeat domain containing 25199 protein-coding gene gene with protein product 613210 chromosome 9 open reading frame 112, WD repeat domain 85 C9orf112, WDR85 NA 23486472 Standard NM_138778 NM_138778 NA Approved FLJ90634, RRT2 uc004cnk.1 Q9BTV6 OTTHUMG00000020991 ENST00000277540.2:c.950-1918A>G chr9.hg19:g.140452018T>C NA Q96AB7 hg19 CCDS7047.1 0.02 -0.140322 AATxCCA COVERED NOVEL DPH7-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055350.1 6 2.708085 KEEP 0 0 0 9 277 TT 0.99254 0.259018 0 - 3 60 91 0 0 7.179335 13 60 382 30 ENST00000277540.2 0.1875 0.260965 EHMT1 79813 __UNKNOWN__ __UNKNOWN__ 9 140591625 140591625 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:140591625T>C ENST00000462484.1 + 2 58 EHMT1_ENST00000334856.6_Intron|EHMT1_ENST00000371394.2_Intron|EHMT1_ENST00000460843.1_Intron NM_001145527.1 NP_001138999.1 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 NA NA chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026) chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) cccagctacttgggaggctga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY083210 CCDS7050.1, CCDS7050.2, CCDS56595.1 9q34.3 2013-09-20 ENSG00000181090 ENSG00000181090 79813 2.1.1.43 Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing 24650 protein-coding gene gene with protein product 607001 euchromatic histone methyltransferase 1 NA 11347906, 12004135 Standard NM_024757 NM_024757 NA Approved Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D uc011mfc.2 Q9H9B1 OTTHUMG00000020995 ENST00000462484.1:c.22-13794T>C chr9.hg19:g.140591625T>C NA B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4 hg19 CCDS56595.1 0.02 -0.385757 ACTxGGG COVERED NOVEL EHMT1-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000348982.1 6 2.706597 KEEP 0 0 0 9 251 TT 0.99254 0.911321 0 + 4 59 123 0 0 8.52056 37 60 996 67 ENST00000462484.1 0.097561 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 140750079 140750079 __UNKNOWN__ IGR SNP A A G rs111703152 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:140750079A>G NA NA MIR602 (17111 upstream) : RP11-188C12.3 (12297 downstream) NA NA NA ctcccaaagtactgggattac 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.140750079A>G NA hg19 0.02 -0.228004 AGTxCTG COVERED NOVEL 0 9 2.405242 KEEP 0 0 0 8 225 AA 0.99257 0.578599 0 3 60 105 0 0 8.192308 18 60 504 48 0.142857 0.58293 CACNA1B 774 __UNKNOWN__ __UNKNOWN__ 9 140963037 140963037 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:140963037G>T ENST00000371372.1 + 32 4813 CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371355.4_Intron NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit NA NA calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810) dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661) CTGCATTGCTGATTCCTAAGG 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 37 36 36 NA NA NA 9 NA NA 140963037 876 1991 2867 SO:0001627 intron_variant AB209467 CCDS59522.1, CCDS59523.1 9q34 2013-01-10 2007-02-16 ENSG00000148408 ENSG00000148408 774 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1389 protein-coding gene gene with protein product 601012 CACNL1A5 NA 8825650, 16382099 Standard NM_000718 NM_000718 NA Approved Cav2.2, CACNN uc004cog.3 Q00975 OTTHUMG00000021002 ENST00000371372.1:c.4669-1173G>T chr9.hg19:g.140963037G>T NA B1AQK5 hg19 CCDS59522.1 0.02 -0.342028 GCTxATT COVERED NOVEL CACNA1B-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055380.1 1 4.514872 KEEP 0 0 0 15 546 GG 0.99649 0.862707 0 + 15 60 440 0 0 40.084795 23 60 744 73 ENST00000371372.1 0.394737 0.865745 CACNA1B 774 __UNKNOWN__ __UNKNOWN__ 9 140963038 140963038 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr9:140963038A>T ENST00000371372.1 + 32 4813 CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371355.4_Intron NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit NA NA calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810) dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661) TGCATTGCTGATTCCTAAGGG 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 37 36 36 NA NA NA 9 NA NA 140963038 876 1991 2867 SO:0001627 intron_variant AB209467 CCDS59522.1, CCDS59523.1 9q34 2013-01-10 2007-02-16 ENSG00000148408 ENSG00000148408 774 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1389 protein-coding gene gene with protein product 601012 CACNL1A5 NA 8825650, 16382099 Standard NM_000718 NM_000718 NA Approved Cav2.2, CACNN uc004cog.3 Q00975 OTTHUMG00000021002 ENST00000371372.1:c.4669-1172A>T chr9.hg19:g.140963038A>T NA B1AQK5 hg19 CCDS59522.1 0.02 -0.34201 CTGxTTC COVERED NOVEL CACNA1B-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055380.1 1 4.514172 KEEP 0 0 0 15 488 AA 0.99649 0.862707 0 + 15 60 437 0 0 39.78521 23 60 666 74 ENST00000371372.1 0.394737 0.865745 GTPBP4 23560 __UNKNOWN__ __UNKNOWN__ 10 1060334 1060334 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:1060334T>C ENST00000360803.4 + 15 1690 GTPBP4_ENST00000545048.1_Intron|GTPBP4_ENST00000538293.1_Intron NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 NA NA GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822) endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) tggtggctcatgcctgtaatc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001548 CCDS31132.1 10p15-p14 2007-07-27 ENSG00000107937 ENSG00000107937 23560 21535 protein-coding gene gene with protein product G protein-binding protein CRFG, GTP-binding protein NA 11316846 Standard NM_012341 NM_012341 NA Approved CRFG, NGB, FLJ10690, FLJ10686, NOG1 uc001ift.3 Q9BZE4 OTTHUMG00000017538 ENST00000360803.4:c.1608+82T>C chr10.hg19:g.1060334T>C NA B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8 hg19 CCDS31132.1 0.02 5.525579 TCAxGCC COVERED NOVEL GTPBP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046412.1 18 13.201666 KEEP 0 0 0 44 1347 TT 1 1 0 + 7 60 209 0 0 12.456364 122 60 3623 237 ENST00000360803.4 0.054264 1 IDI2-AS1 55853 __UNKNOWN__ __UNKNOWN__ 10 1081974 1081974 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:1081974G>A ENST00000428780.2 + 0 279 IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA NR_024628.1 Q9NZ38 IDAS1_HUMAN IDI2 antisense RNA 1 NA NA NA atggagtctcgctctgtcacc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF220183 10p15.3 2014-01-15 2012-08-15 2010-11-25 ENSG00000232656 ENSG00000232656 55853 Long non-coding RNAs 30885 non-coding RNA RNA, long non-coding 615391 chromosome 10 open reading frame 110, IDI2 antisense RNA (non-protein coding), IDI2 antisense RNA 1 (non-protein coding) C10orf110, IDI2-AS NA 24036268 Standard NR_024628 NR_024628 NA Approved HT009, Em:AC022536.4 uc001ifw.3 Q9NZ38 OTTHUMG00000017535 ENST00000428780.2: chr10.hg19:g.1081974G>A NA hg19 0.02 2.196214 CTCxCTC COVERED NOVEL IDI2-AS1-002 KNOWN basic antisense NA antisense OTTHUMT00000046403.1 6 10.532049 KEEP 0 0 0 35 1176 GG 0.999999 0.999998 0 + 7 60 182 1 0 10.345125 100 60 3267 185 ENST00000428780.2 0.065421 0.999999 PITRM1 10531 __UNKNOWN__ __UNKNOWN__ 10 3199774 3199774 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:3199774T>C ENST00000224949.4 - 12 1285 PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Intron|PITRM1_ENST00000380994.1_Intron|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Intron Q5JRX3 PREP_HUMAN pitrilysin metallopeptidase 1 NA NA positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 tggctcatgcttgtaatccca 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 71 66 68 NA NA NA 10 NA NA 3199774 1028 2133 3161 SO:0001627 intron_variant AB029027 CCDS55699.1, CCDS55700.1, CCDS59208.1 10p15.2 2008-07-30 2005-08-17 ENSG00000107959 ENSG00000107959 10531 17663 protein-coding gene gene with protein product PreP peptidasome pitrilysin metalloproteinase 1 NA 1036083, 10470851, 16849325 Standard NM_014889 NA Approved MP1, KIAA1104, hMP1, PreP uc009xhv.2 Q5JRX3 OTTHUMG00000017557 ENST00000224949.4:c.1251-51A>G chr10.hg19:g.3199774T>C NA B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8 hg19 CCDS59208.1 0.02 1.607958 TGCxTGT COVERED NOVEL PITRM1-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000046469.2 8 7.860477 KEEP 0 1 37 39 1271 TT 1 0.999862 0 - 5 60 174 0 0 11.638699 76 60 2319 176 ENST00000224949.4 0.061728 0.999862 FBXO18 84893 __UNKNOWN__ __UNKNOWN__ 10 5966797 5966797 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:5966797A>G ENST00000362091.4 + 17 2711 FBXO18_ENST00000397269.3_Intron|FBXO18_ENST00000379999.5_Intron NM_001258453.1|NM_178150.2 NP_001245382.1|NP_835363.1 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 NA NA DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429) nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677) NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 ccaaagtgctagaattacagg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095343 CCDS7072.1, CCDS7073.1, CCDS73064.1 10p15.1 2004-08-24 2004-06-15 ENSG00000134452 ENSG00000134452 84893 F-boxes / other 13620 protein-coding gene gene with protein product 607222 F-box only protein 18 NA 10531037, 11956208 Standard NM_032807 NM_032807 NA Approved FBH1, FLJ14590, Fbx18 uc001iit.4 Q8NFZ0 OTTHUMG00000017609 ENST00000362091.4:c.2596+326A>G chr10.hg19:g.5966797A>G NA Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2 hg19 CCDS7072.1 0.02 1.78992 GCTxGAA COVERED NOVEL FBXO18-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046596.1 11 4.511977 KEEP 2 0 0 15 456 AA 0.99649 0.996372 0 + 5 60 171 0 0 11.312576 77 60 2241 156 ENST00000362091.4 0.060976 0.999881 IL2RA 3559 __UNKNOWN__ __UNKNOWN__ 10 6054949 6054949 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:6054949T>C ENST00000379959.3 - 8 968 IL2RA_ENST00000256876.6_Intron|IL2RA_ENST00000379954.1_Intron NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha NA NA activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911) endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) cacgccaccatgcctggctaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 77 67 70 NA NA NA 10 NA NA 6054949 692 1591 2283 SO:0001627 intron_variant X01057 CCDS7076.1 10p15-p14 2014-09-17 ENSG00000134460 ENSG00000134460 3559 Interleukins and interleukin receptors, CD molecules 6008 protein-coding gene gene with protein product 147730 insulin-dependent diabetes mellitus 10 IL2R, IDDM10 NA 3925551, 17676041 Standard NM_000417 NM_000417 NA Approved CD25 uc001iiz.2 P01589 OTTHUMG00000017616 ENST00000379959.3:c.795-90A>G chr10.hg19:g.6054949T>C NA Q5W007 hg19 CCDS7076.1 0.02 5.440546 CCAxGCC COVERED NOVEL IL2RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046627.1 14 23.310512 KEEP 0 4 136 125 3935 TT 1 1 0 - 7 60 228 1 0 13.726066 150 60 4480 391 ENST00000379959.3 0.044586 1 IL2RA 3559 __UNKNOWN__ __UNKNOWN__ 10 6054953 6054953 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:6054953T>C ENST00000379959.3 - 8 968 IL2RA_ENST00000256876.6_Intron|IL2RA_ENST00000379954.1_Intron NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha NA NA activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911) endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ccaccatgcctggctaatttt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X01057 CCDS7076.1 10p15-p14 2014-09-17 ENSG00000134460 ENSG00000134460 3559 Interleukins and interleukin receptors, CD molecules 6008 protein-coding gene gene with protein product 147730 insulin-dependent diabetes mellitus 10 IL2R, IDDM10 NA 3925551, 17676041 Standard NM_000417 NM_000417 NA Approved CD25 uc001iiz.2 P01589 OTTHUMG00000017616 ENST00000379959.3:c.795-94A>G chr10.hg19:g.6054953T>C NA Q5W007 hg19 CCDS7076.1 0.02 5.874125 GCCxGGC COVERED NOVEL IL2RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046627.1 13 13.847938 KEEP 0 6 191 113 3567 TT 1 1 0 - 7 60 225 2 0 13.548046 144 60 4316 365 ENST00000379959.3 0.046358 1 RP11-563J2.2 0 __UNKNOWN__ __UNKNOWN__ 10 6333875 6333875 __UNKNOWN__ lincRNA SNP A A G rs41370248 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:6333875A>G ENST00000399868.2 + 0 121 NR_040079.1 NA NA NA ACCTACATACACTGTTTAATG 0.368 NA A||| 836 0.166933 0.0204 0.2522 5008 , , NA 16139 0.4008 NA 0.0417 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000399868.2: chr10.hg19:g.6333875A>G NA hg19 0.02 -0.09648 TACxCTG UNCOVERED NOVEL RP11-563J2.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000472270.1 1 2.707451 KEEP 0 0 0 9 265 AA 0.99254 0.119538 0 + 3 60 101 0 0 8.732612 8 60 234 29 ENST00000399868.2 0.272727 0.120436 UPF2 26019 __UNKNOWN__ __UNKNOWN__ 10 11970640 11970640 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:11970640A>G ENST00000356352.2 - 20 4283 UPF2_ENST00000397053.2_Intron|UPF2_ENST00000357604.5_Intron Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) NA NA gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634) RNA binding (GO:0003723) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) cccgggaggcagagcttgcag 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037829 CCDS7086.1 10p14-p13 2011-06-21 ENSG00000151461 ENSG00000151461 26019 17854 protein-coding gene gene with protein product smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans) 605529 NA 11073994, 11113196 Standard NM_080599 NA Approved RENT2, DKFZP434D222, KIAA1408, smg-3 uc001ilb.3 Q9HAU5 OTTHUMG00000017678 ENST00000356352.2:c.3809+1223T>C chr10.hg19:g.11970640A>G NA A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9 hg19 CCDS7086.1 0.02 -0.385499 GGCxGAG COVERED NOVEL UPF2-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046783.1 4 5.115465 KEEP 1 0 0 17 528 AA 0.999366 0.917589 0 - 3 60 97 0 0 6.475428 38 60 1085 69 ENST00000356352.2 0.073171 0.918171 UPF2 26019 __UNKNOWN__ __UNKNOWN__ 10 11973871 11973871 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:11973871T>C ENST00000356352.2 - 19 4020 UPF2_ENST00000397053.2_Intron|UPF2_ENST00000357604.5_Intron Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) NA NA gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634) RNA binding (GO:0003723) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) AAGTACAggctgggcacggtg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037829 CCDS7086.1 10p14-p13 2011-06-21 ENSG00000151461 ENSG00000151461 26019 17854 protein-coding gene gene with protein product smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans) 605529 NA 11073994, 11113196 Standard NM_080599 NA Approved RENT2, DKFZP434D222, KIAA1408, smg-3 uc001ilb.3 Q9HAU5 OTTHUMG00000017678 ENST00000356352.2:c.3547-90A>G chr10.hg19:g.11973871T>C NA A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9 hg19 CCDS7086.1 0.02 1.871411 GGCxGGG COVERED NOVEL UPF2-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046783.1 6 7.220155 KEEP 1 0 0 24 726 TT 0.999909 0.987854 0 - 4 60 132 0 1 8.823434 53 60 1537 100 ENST00000356352.2 0.070175 0.987943 DHTKD1 55526 __UNKNOWN__ __UNKNOWN__ 10 12160650 12160650 __UNKNOWN__ Intron SNP A A G rs149434328 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:12160650A>G ENST00000263035.4 + 15 2464 NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 NA NA cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099) mitochondrion (GO:0005739) oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) caaagtgctgagattacaggc 0.473 NA G||| 29 0.00579073 0.0159 0 5008 , , NA 15668 0.006 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC002477 CCDS7087.1 10p14 2003-11-24 ENSG00000181192 ENSG00000181192 55526 23537 protein-coding gene gene with protein product 614984 NA 10997877 Standard NM_018706 NM_018706 NA Approved KIAA1630, MGC3090, DKFZP762M115 uc001ild.5 Q96HY7 OTTHUMG00000017677 ENST00000263035.4:c.2403-98A>G chr10.hg19:g.12160650A>G NA Q68CU5|Q9BUM8|Q9HCE2 hg19 CCDS7087.1 0.02 2.005906 CTGxGAT COVERED NOVEL DHTKD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046777.1 5 8.425847 KEEP 0 0 0 28 913 AA 0.999997 0.976862 0 + 4 60 138 0 0 9.848657 41 60 1232 93 ENST00000263035.4 0.088889 0.976865 DHTKD1 55526 __UNKNOWN__ __UNKNOWN__ 10 12164604 12164604 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:12164604A>G ENST00000263035.4 + 0 4539 NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 NA NA cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099) mitochondrion (GO:0005739) oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) gtgacagagcaagactccatc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC002477 CCDS7087.1 10p14 2003-11-24 ENSG00000181192 ENSG00000181192 55526 23537 protein-coding gene gene with protein product 614984 NA 10997877 Standard NM_018706 NM_018706 NA Approved KIAA1630, MGC3090, DKFZP762M115 uc001ild.5 Q96HY7 OTTHUMG00000017677 ENST00000263035.4:c.*1717A>G chr10.hg19:g.12164604A>G NA Q68CU5|Q9BUM8|Q9HCE2 hg19 CCDS7087.1 0.02 1.543865 AGCxAGA COVERED NOVEL DHTKD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046777.1 16 3.74636 KEEP 4 1 33 24 763 AA 0.999909 0.999587 0 + 4 60 130 0 0 8.281615 65 60 1922 158 ENST00000263035.4 0.057971 0.999678 SEC61A2 55176 __UNKNOWN__ __UNKNOWN__ 10 12178073 12178073 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:12178073G>A ENST00000298428.9 + 3 164 SEC61A2_ENST00000379051.1_Intron|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000495368.1_Intron|SEC61A2_ENST00000379033.3_Intron|SEC61A2_ENST00000379017.3_Intron NM_018144.3 NP_060614.2 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ribosome binding (GO:0043022) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) TCTTGGTTTTGATTGATGATT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 120 119 119 NA NA NA 10 NA NA 12178073 2203 4300 6503 SO:0001627 intron_variant AF346603 CCDS7088.1, CCDS44358.1, CCDS44359.1 10p14 2004-01-06 ENSG00000065665 ENSG00000065665 55176 17702 protein-coding gene gene with protein product NA Standard NM_018144 NM_018144 NA Approved FLJ10578 uc001ile.2 Q9H9S3 OTTHUMG00000017679 ENST00000298428.9:c.76-31G>A chr10.hg19:g.12178073G>A NA A8K8D0|B4DX72|F8W773 hg19 CCDS7088.1 0.02 4.236071 TTTxATT COVERED NOVEL SEC61A2-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046795.1 2 31.901767 KEEP 0 0 0 106 3745 GG 1 1 0 + 19 60 528 0 0 37.022602 133 60 4465 380 ENST00000298428.9 0.125 1 CDC123 8872 __UNKNOWN__ __UNKNOWN__ 10 12239655 12239655 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:12239655T>C ENST00000281141.4 + 2 354 CDC123_ENST00000455773.3_Intron|CDC123_ENST00000378900.2_Intron NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 NA NA cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 ggattacaggtgtgagccacc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC001600 CCDS7090.1 10p13 2013-01-17 2013-01-17 2006-11-06 ENSG00000151465 ENSG00000151465 8872 16827 protein-coding gene gene with protein product chromosome 10 open reading frame 7, cell division cycle 123 homolog (S. cerevisiae) C10orf7 NA 15319434 Standard NM_006023 NM_006023 NA Approved D123 uc001ill.3 O75794 OTTHUMG00000017680 ENST00000281141.4:c.75-1049T>C chr10.hg19:g.12239655T>C NA A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9 hg19 CCDS7090.1 0.02 -0.219256 AGGxGTG COVERED NOVEL CDC123-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046801.1 5 3.610562 KEEP 2 0 0 12 365 TT 0.993634 0.549368 0 + 3 60 100 0 0 7.627188 19 60 576 64 ENST00000281141.4 0.136364 0.552887 CAMK1D 57118 __UNKNOWN__ __UNKNOWN__ 10 12875062 12875062 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:12875062T>C ENST00000378847.3 + 0 5671 NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID NA NA inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622) calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) gccgagatcgtgccactgcac 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF286366 CCDS7091.1, CCDS7092.1 10p13 2003-11-05 ENSG00000183049 ENSG00000183049 57118 19341 protein-coding gene gene with protein product 607957 NA 11050006 Standard NM_020397 XM_006717481 NA Approved CKLiK uc001ilo.3 Q8IU85 OTTHUMG00000017683 ENST00000378847.3:c.*4176T>C chr10.hg19:g.12875062T>C NA B0YIY0|Q9HD31 hg19 CCDS7091.1 0.02 3.877216 TCGxGCC COVERED NOVEL CAMK1D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046820.1 13 7.822255 KEEP 7 0 0 26 781 TT 0.999957 0.999953 0 + 6 60 204 0 0 13.493662 91 60 2587 190 ENST00000378847.3 0.061856 0.999996 CAMK1D 57118 __UNKNOWN__ __UNKNOWN__ 10 12875100 12875100 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:12875100C>T ENST00000378847.3 + 0 5709 NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID NA NA inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622) calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) agcaagactccgtctcaaaaa 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF286366 CCDS7091.1, CCDS7092.1 10p13 2003-11-05 ENSG00000183049 ENSG00000183049 57118 19341 protein-coding gene gene with protein product 607957 NA 11050006 Standard NM_020397 XM_006717481 NA Approved CKLiK uc001ilo.3 Q8IU85 OTTHUMG00000017683 ENST00000378847.3:c.*4214C>T chr10.hg19:g.12875100C>T NA B0YIY0|Q9HD31 hg19 CCDS7091.1 0.02 2.573817 CTCxGTC COVERED NOVEL CAMK1D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046820.1 17 13.242137 KEEP 4 0 0 44 1508 CC 1 1 0 + 6 60 177 2 1 10.278824 112 60 3702 267 ENST00000378847.3 0.050847 1 OPTN 10133 __UNKNOWN__ __UNKNOWN__ 10 13179017 13179017 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:13179017T>C ENST00000378748.3 + 0 2247 OPTN_ENST00000378747.3_3'UTR|OPTN_ENST00000378764.2_3'UTR|OPTN_ENST00000378757.2_3'UTR|OPTN_ENST00000378752.3_3'UTR NM_001008211.1|NM_001008213.1 NP_001008212|NP_001008214 Q96CV9 OPTN_HUMAN optineurin NA NA cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802) polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 cagtggctcatgcctgtaatc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF420371 CCDS7094.1 10p14 2014-01-28 2003-09-08 ENSG00000123240 ENSG00000123240 10133 17142 protein-coding gene gene with protein product 602432 glaucoma 1, open angle, E (adult-onset) GLC1E NA 11834836, 9488477 Standard NM_021980 NM_001008211 NA Approved FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7 uc001ilx.1 Q96CV9 OTTHUMG00000017690 ENST00000378748.3:c.*151T>C chr10.hg19:g.13179017T>C NA B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218 hg19 CCDS7094.1 0.02 4.064639 TCAxGCC COVERED NOVEL OPTN-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000046834.1 11 9.6637 KEEP 0 1 34 44 1378 TT 1 0.999984 0 + 5 60 166 0 0 10.486743 90 60 2646 181 ENST00000378748.3 0.052632 0.999984 OPTN 10133 __UNKNOWN__ __UNKNOWN__ 10 13179044 13179044 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:13179044T>C ENST00000378748.3 + 0 2274 OPTN_ENST00000378747.3_3'UTR|OPTN_ENST00000378764.2_3'UTR|OPTN_ENST00000378757.2_3'UTR|OPTN_ENST00000378752.3_3'UTR NM_001008211.1|NM_001008213.1 NP_001008212|NP_001008214 Q96CV9 OPTN_HUMAN optineurin NA NA cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802) polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 ctttgggaggtcgaggtgggt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF420371 CCDS7094.1 10p14 2014-01-28 2003-09-08 ENSG00000123240 ENSG00000123240 10133 17142 protein-coding gene gene with protein product 602432 glaucoma 1, open angle, E (adult-onset) GLC1E NA 11834836, 9488477 Standard NM_021980 NM_001008211 NA Approved FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7 uc001ilx.1 Q96CV9 OTTHUMG00000017690 ENST00000378748.3:c.*178T>C chr10.hg19:g.13179044T>C NA B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218 hg19 CCDS7094.1 0.02 1.953654 AGGxCGA COVERED NOVEL OPTN-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000046834.1 6 3.646136 KEEP 0 1 34 24 777 TT 0.999931 0.989474 0 + 5 60 156 0 0 10.717407 50 60 1473 110 ENST00000378748.3 0.090909 0.989542 FRMD4A 55691 __UNKNOWN__ __UNKNOWN__ 10 13721164 13721164 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:13721164T>C ENST00000357447.2 - 16 1486 FRMD4A_ENST00000358621.4_Intron|FRMD4A_ENST00000378503.1_Intron NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A NA NA establishment of epithelial cell polarity (GO:0090162) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923) breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 tggctcacgcttgtaatccca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037715 CCDS7101.1 10p14 2004-07-15 2004-07-15 2004-07-15 ENSG00000151474 ENSG00000151474 55691 25491 protein-coding gene gene with protein product FERM domain containing 4 FRMD4 NA 10718198 Standard NM_018027 NM_018027 NA Approved FLJ10210, KIAA1294, bA295P9.4 uc001ims.3 Q9P2Q2 OTTHUMG00000017708 ENST00000357447.2:c.1118-4120A>G chr10.hg19:g.13721164T>C NA A7E2Y3|Q5T377 hg19 CCDS7101.1 0.02 -0.140341 CGCxTGT COVERED NOVEL FRMD4A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000046889.1 2 2.708504 KEEP 0 0 0 9 300 TT 0.99254 0.259018 0 - 3 60 104 0 0 9.032578 8 60 237 38 ENST00000357447.2 0.272727 0.260965 HSPA14 51182 __UNKNOWN__ __UNKNOWN__ 10 14895994 14895994 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:14895994C>G ENST00000378372.3 + 9 973 NM_016299.2 NP_057383.2 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 NA NA 'de novo' cotranslational protein folding (GO:0051083) cytosol (GO:0005829)|membrane (GO:0016020) ATP binding (GO:0005524) breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 17 tgggattacacgcgtgagcca 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF112210 CCDS7103.1, CCDS60487.1 10p13 2011-09-02 ENSG00000187522 ENSG00000187522 51182 Heat shock proteins / HSP70 29526 protein-coding gene gene with protein product 610369 NA 12477932 Standard NM_016299 NM_016299 NA Approved HSP70-4, HSP70L1 uc001ind.4 Q0VDF9 OTTHUMG00000017712 ENST00000378372.3:c.735-130C>G chr10.hg19:g.14895994C>G NA A8K8F8|B0YIY9|Q9P0X2|Q9UI07 hg19 CCDS7103.1 0.02 -0.166668 ACAxGCG COVERED NOVEL HSPA14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046910.1 4 3.009691 KEEP 0 0 0 10 347 CC 0.992708 0.351366 0 + 3 60 101 0 0 8.091541 14 60 452 38 ENST00000378372.3 0.176471 0.353947 SUV39H2 79723 __UNKNOWN__ __UNKNOWN__ 10 14941209 14941209 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:14941209G>C ENST00000354919.6 + 4 849 SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000378325.3_Intron|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T420S NM_001193424.1 NP_001180353.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) NA NA cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720) chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 gatccagctagtcaggaggct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027067 CCDS7104.1, CCDS53493.1, CCDS53494.1 10p13 2011-07-01 ENSG00000152455 ENSG00000152455 79723 Chromatin-modifying enzymes / K-methyltransferases 17287 protein-coding gene gene with protein product 606503 NA 11094092 Standard NM_024670 NM_001193424 NA Approved FLJ23414, KMT1B uc021png.1 Q9H5I1 OTTHUMG00000017718 ENST00000354919.6:c.850-329G>C chr10.hg19:g.14941209G>C NA D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06 hg19 CCDS53494.1 0.02 3.69568 CTAxTCA COVERED . . . . . . . . . . G 0.583 -0.836070 0.02713 . . ENSG00000152457 ENST00000378289 T 0.19938 2.11 0.819 -1.64 0.08318 . . . . . T 0.12860 0.0312 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.28808 -1.0032 8 0.87932 D 0 . 2.4261 0.04460 0.0:0.3884:0.315:0.2966 . 420 Q96SD1-4 . S 420 ENSP00000367538:T420S ENSP00000367538:T420S T - 2 0 DCLRE1C 14981215 0.007000 0.16637 0.001000 0.08648 0.012000 0.07955 -1.642000 0.02006 -1.013000 0.03383 -0.919000 0.02742 ACT NOVEL SUV39H2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046947.2 28 8.494888 KEEP 0 2 68 52 1824 GG 1 1 0 + 6 60 214 1 0 13.568379 131 60 4531 285 ENST00000354919.6 0.043796 1 SUV39H2 79723 __UNKNOWN__ __UNKNOWN__ 10 14946118 14946118 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:14946118T>A ENST00000313519.5 + 0 2891 DCLRE1C_ENST00000378289.4_Intron NM_001193425.1|NM_024670.3 NP_001180354.1|NP_078946.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) NA NA cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720) chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 agcctggccatcatggtgaaa 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027067 CCDS7104.1, CCDS53493.1, CCDS53494.1 10p13 2011-07-01 ENSG00000152455 ENSG00000152455 79723 Chromatin-modifying enzymes / K-methyltransferases 17287 protein-coding gene gene with protein product 606503 NA 11094092 Standard NM_024670 NM_001193424 NA Approved FLJ23414, KMT1B uc021png.1 Q9H5I1 OTTHUMG00000017718 ENST00000313519.5:c.*1607T>A chr10.hg19:g.14946118T>A NA D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06 hg19 CCDS7104.1 0.02 -0.157812 CCAxCAT COVERED NOVEL SUV39H2-008 PUTATIVE basic|CCDS protein_coding NA protein_coding OTTHUMT00000046953.2 2 3.009201 KEEP 0 0 0 10 316 TT 0.992708 0.320453 0 + 3 60 85 0 0 6.493362 14 60 406 32 ENST00000313519.5 0.176471 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 15041862 15041862 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:15041862G>C NA NA MEIG1 (11813 upstream) : OLAH (44032 downstream) NA NA NA GGACAGGTTGGAGAGGAAGAA 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.15041862G>C NA hg19 0.02 -0.236848 TTGxAGA COVERED NOVEL 0 0 4.204112 KEEP 0 0 0 14 465 GG 0.995343 0.609555 0 9 48 306 0 0 27.998802 15 60 496 51 0.375 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 15059992 15059992 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:15059992C>G NA NA MEIG1 (29943 upstream) : OLAH (25902 downstream) NA NA NA gacagagcaacactccgtttc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.15059992C>G NA hg19 0.02 5.428499 CAAxACT COVERED NOVEL 0 33 7.994128 KEEP 1 2 70 51 1734 CC 1 1 0 8 67 264 0 0 16.664364 142 60 4699 310 0.053333 1 OLAH 55301 __UNKNOWN__ __UNKNOWN__ 10 15089434 15089434 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:15089434T>C ENST00000378228.3 + 2 286 OLAH_ENST00000378217.3_Intron NM_001039702.2 NP_001034791.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase NA NA fatty acid biosynthetic process (GO:0006633) myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296) endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 GTgctcacacttgtaatccca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001844 CCDS7106.1, CCDS31152.1 10p13 2010-11-23 2006-07-07 2006-07-07 ENSG00000152463 ENSG00000152463 55301 3.1.2.14 25625 protein-coding gene gene with protein product thioesterase domain containing 1 THEDC1 NA Standard NM_018324 NM_018324 NA Approved FLJ11106, SAST uc001inu.2 Q9NV23 OTTHUMG00000017724 ENST00000378228.3:c.32+115T>C chr10.hg19:g.15089434T>C NA Q5VUB6|Q9NUW1 hg19 CCDS31152.1 0.02 1.777876 CACxTGT COVERED NOVEL OLAH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046964.1 7 9.262039 KEEP 1 1 38 44 1414 TT 1 0.999317 0 + 6 60 204 0 0 14.11557 71 60 2105 151 ENST00000378228.3 0.077922 0.999317 ACBD7 414149 __UNKNOWN__ __UNKNOWN__ 10 15119693 15119693 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:15119693A>G ENST00000356189.5 - 0 1150 NM_001039844.2 NP_001034933.1 Q8N6N7 ACBD7_HUMAN acyl-CoA binding domain containing 7 NA NA fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289) endometrium(1)|lung(4)|prostate(1) 6 ccaacatggcaaaaccccgtc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095538 CCDS31153.1 10p13 2010-08-05 2010-04-30 ENSG00000176244 ENSG00000176244 414149 17715 protein-coding gene gene with protein product acyl-Coenzyme A binding domain containing 7 NA Standard NM_001039844 NA Approved FLJ38219, bA455B2.2 uc010qby.1 Q8N6N7 OTTHUMG00000017725 ENST00000356189.5:c.*836T>C chr10.hg19:g.15119693A>G NA A6NCI2|B3KTG8 hg19 CCDS31153.1 0.02 1.596423 GGCxAAA COVERED NOVEL ACBD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046972.2 7 10.229081 KEEP 1 0 0 34 1017 AA 0.999998 0.999108 0 - 4 60 129 0 0 8.057934 70 60 1873 127 ENST00000356189.5 0.054054 0.99911 ITGA8 8516 __UNKNOWN__ __UNKNOWN__ 10 15590579 15590579 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:15590579A>T ENST00000378076.3 - 27 3120 NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 NA NA brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446) apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) metal ion binding (GO:0046872) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TGCAAACAGCAGTGGGAACAC 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 77 68 71 NA NA NA 10 NA NA 15590579 2203 4300 6503 SO:0001627 intron_variant L36531 CCDS31155.1 10p13 2010-03-23 ENSG00000077943 ENSG00000077943 8516 Integrins 6144 protein-coding gene gene with protein product 604063 NA 7768999 Standard NM_003638 XM_005252633 NA Approved uc001ioc.1 P53708 OTTHUMG00000017733 ENST00000378076.3:c.2767-12T>A chr10.hg19:g.15590579A>T NA B0YJ31|Q5VX94 hg19 CCDS31155.1 0.02 -0.219263 AGCxGTG COVERED NOVEL ITGA8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046987.1 1 5.115427 KEEP 0 0 0 17 532 AA 0.999366 0.552537 0 - 11 60 334 0 0 31.20023 14 60 412 55 ENST00000378076.3 0.44 0.552887 ITGA8 8516 __UNKNOWN__ __UNKNOWN__ 10 15702969 15702969 __UNKNOWN__ Intron SNP A A C rs377666787 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:15702969A>C ENST00000378076.3 - 9 1201 NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 NA NA brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446) apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) metal ion binding (GO:0046872) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 cacacacacaaacacacacac 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36531 CCDS31155.1 10p13 2010-03-23 ENSG00000077943 ENSG00000077943 8516 Integrins 6144 protein-coding gene gene with protein product 604063 NA 7768999 Standard NM_003638 XM_005252633 NA Approved uc001ioc.1 P53708 OTTHUMG00000017733 ENST00000378076.3:c.848-48T>G chr10.hg19:g.15702969A>C NA B0YJ31|Q5VX94 hg19 CCDS31155.1 0.02 3.55203 ACAxACA COVERED NOVEL ITGA8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046987.1 16 10.396495 KEEP 0 2 73 60 1825 AA 1 0.999998 0 - 8 60 275 1 1 18.904709 101 60 2896 247 ENST00000378076.3 0.073394 0.999998 ITGA8 8516 __UNKNOWN__ __UNKNOWN__ 10 15758896 15758896 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:15758896A>G ENST00000378076.3 - 2 697 NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 NA NA brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446) apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) metal ion binding (GO:0046872) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 cctgacctcaagtgatccacc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36531 CCDS31155.1 10p13 2010-03-23 ENSG00000077943 ENSG00000077943 8516 Integrins 6144 protein-coding gene gene with protein product 604063 NA 7768999 Standard NM_003638 XM_005252633 NA Approved uc001ioc.1 P53708 OTTHUMG00000017733 ENST00000378076.3:c.343+1868T>C chr10.hg19:g.15758896A>G NA B0YJ31|Q5VX94 hg19 CCDS31155.1 0.02 -0.105243 TCAxGTG UNCOVERED NOVEL ITGA8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046987.1 5 2.407223 KEEP 1 0 0 8 254 AA 0 0 0 - 3 60 106 0 0 9.378891 7 60 209 24 ENST00000378076.3 0.3 0.139832 RSU1 6251 __UNKNOWN__ __UNKNOWN__ 10 16775227 16775227 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:16775227T>C ENST00000377921.3 - 6 900 RSU1_ENST00000345264.5_Intron|RSU1_ENST00000602389.1_Intron|RP11-197M22.2_ENST00000421480.2_RNA|RSU1_ENST00000464074.2_Intron Q15404 RSU1_HUMAN Ras suppressor protein 1 NA NA cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(1;7.54e-08) tggtggctcatgcctgtaatc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055596 CCDS7112.1, CCDS31157.1 10p13 2012-09-20 ENSG00000148484 ENSG00000148484 6251 10464 protein-coding gene gene with protein product 179555 NA 8288261 Standard NM_012425, NM_152724 NM_152724 NA Approved RSP-1, FLJ31034 uc001iol.3 Q15404 OTTHUMG00000017740 ENST00000377921.3:c.598+19310A>G chr10.hg19:g.16775227T>C NA A8KA46|D3DRU3|Q6FI17 hg19 CCDS7112.1 0.02 -0.263113 TCAxGCC COVERED NOVEL RSU1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047006.1 6 2.406901 KEEP 0 0 0 8 241 TT 0.99257 0.688515 0 - 3 60 99 0 0 7.349034 22 60 647 58 ENST00000377921.3 0.12 0.693668 CUBN 8029 __UNKNOWN__ __UNKNOWN__ 10 16919105 16919105 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:16919105G>A ENST00000377833.4 - 57 8971 NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) NA NA cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCTGGAAAAGGCATGGAACA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 41 45 NA NA NA 10 NA NA 16919105 2203 4300 6503 SO:0001627 intron_variant AF034611 CCDS7113.1 10p12 2014-09-17 ENSG00000107611 ENSG00000107611 8029 2548 protein-coding gene gene with protein product 602997 MGA1 NA 9572993, 9478979 Standard NM_001081 NM_001081 NA Approved IFCR, gp280 uc001ioo.3 O60494 OTTHUMG00000017741 ENST00000377833.4:c.8906-9C>T chr10.hg19:g.16919105G>A NA B0YIZ4|Q5VTA6|Q96RU9 hg19 CCDS7113.1 0.02 -0.263138 AAAxGCA COVERED NOVEL CUBN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047009.1 2 9.92686 KEEP 0 0 0 33 1082 GG 0.999998 0.693667 0 - 6 60 172 0 0 13.544953 24 60 777 66 ENST00000377833.4 0.2 0.693668 TRDMT1 1787 __UNKNOWN__ __UNKNOWN__ 10 17216010 17216010 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:17216010T>C ENST00000377799.3 - 2 222 TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000377766.5_Intron NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 NA NA C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175) breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 Pentamidine(DB00738) gatccacctgtctcggcctcc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ223333 CCDS7114.1 10p15.1 2006-10-23 2006-10-23 2006-10-23 ENSG00000107614 ENSG00000107614 1787 2.1.1.37 2977 protein-coding gene gene with protein product 602478 DNA (cytosine-5-)-methyltransferase 2 DNMT2 NA 9425235, 9763678, 16424344 Standard NM_004412 NM_004412 NA Approved RNMT1 uc001iop.3 O14717 OTTHUMG00000017745 ENST00000377799.3:c.174+539A>G chr10.hg19:g.17216010T>C NA B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6 hg19 CCDS7114.1 0.02 -0.350792 CTGxCTC COVERED NOVEL TRDMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047024.3 4 2.944324 KEEP 0 1 38 23 698 TT 0.999909 0.877628 0 - 3 60 101 0 0 7.087272 32 60 911 82 ENST00000377799.3 0.085714 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 17360429 17360429 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:17360429A>G NA NA VIM (80837 upstream) : ST8SIA6 (1443 downstream) NA NA NA tgcccaggctagtctcaaact 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.17360429A>G NA hg19 0.02 1.828354 GCTxGTC COVERED NOVEL 0 9 2.743095 KEEP 0 1 37 22 668 AA 0.999892 0.992819 0 5 44 164 0 0 11.358617 54 60 1502 103 0.084746 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 17620347 17620347 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:17620347A>G NA NA ST8SIA6 (124018 upstream) : PTPLA (11610 downstream) NA NA NA agtggctcacacctgtaatcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.17620347A>G NA hg19 0.02 -0.412065 CACxCCT COVERED NOVEL 0 3 3.436464 KEEP 1 1 36 24 679 AA 0.999931 0.948336 0 3 60 102 0 0 6.94069 39 60 1081 87 0.071429 0.948402 TMEM236 653567 __UNKNOWN__ __UNKNOWN__ 10 17839571 17839571 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:17839571T>C ENST00000377495.1 + 0 2168 TMEM236_ENST00000338221.5_Intron NM_001098844.1 NP_001092314.1 Q5W0B7 TM236_HUMAN transmembrane protein 236 NA NA integral component of membrane (GO:0016021) urinary_tract(1) 1 ggattacaggtgtgagccacc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS41492.1 10p12.33 2011-04-19 2011-04-19 2011-04-19 ENSG00000148483 ENSG00000148483 653567 23473 protein-coding gene gene with protein product family with sequence similarity 23, member B, family with sequence similarity 23, member A FAM23B, FAM23A NA Standard NM_001098844 NA Approved bA16O1.2, bA162I21.2 uc009xjx.4 Q5W0B7 OTTHUMG00000017753 ENST00000377495.1:c.*1068T>C chr10.hg19:g.17839571T>C NA B2RXH7 hg19 CCDS41492.1 0.02 1.836112 AGGxGTG COVERED NOVEL TMEM236-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047053.1 16 2.574322 KEEP 29 2 70 33 966 TT 0.999997 0.992091 0 + 4 48 128 0 0 8.33153 56 50 1605 165 ENST00000377495.1 0.066667 0.992094 TMEM236 653567 __UNKNOWN__ __UNKNOWN__ 10 18054052 18054052 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:18054052T>C ENST00000480516.1 + 2 301 TMEM236_ENST00000457860.1_Intron Q5W0B7 TM236_HUMAN transmembrane protein 236 NA NA integral component of membrane (GO:0016021) urinary_tract(1) 1 cccacctcagtctcccaaagt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41492.1 10p12.33 2011-04-19 2011-04-19 2011-04-19 ENSG00000148483 ENSG00000148483 653567 23473 protein-coding gene gene with protein product family with sequence similarity 23, member B, family with sequence similarity 23, member A FAM23B, FAM23A NA Standard NM_001098844 NA Approved bA16O1.2, bA162I21.2 uc009xjx.4 Q5W0B7 OTTHUMG00000017753 ENST00000480516.1:c.258-6240T>C chr10.hg19:g.18054052T>C NA B2RXH7 hg19 0.02 -0.131541 CAGxCTC COVERED NOVEL TMEM236-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000047055.2 5 2.708298 KEEP 0 0 0 9 286 TT 0.99254 0.259018 0 + 3 50 89 0 0 7.282444 10 50 282 34 ENST00000480516.1 0.230769 0.260965 ARL5B 221079 __UNKNOWN__ __UNKNOWN__ 10 18965971 18965971 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:18965971G>C ENST00000377275.3 + 0 2599 NM_178815.3 NP_848930.1 Q96KC2 ARL5B_HUMAN ADP-ribosylation factor-like 5B NA NA small GTPase mediated signal transduction (GO:0007264) intracellular (GO:0005622) GTP binding (GO:0005525) lung(1)|ovary(1) 2 GTGTGTGTGGGATGTGGGGGA 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF494061 CCDS7131.1 10p13 2014-05-09 2005-11-03 2005-11-03 ENSG00000165997 ENSG00000165997 221079 ADP-ribosylation factors-like, ADP-ribosylation factors 23052 protein-coding gene gene with protein product 608909 ADP-ribosylation factor-like 8 ARL8 NA 12853149 Standard NM_178815 XM_005252400 NA Approved uc001iqd.1 Q96KC2 OTTHUMG00000017765 ENST00000377275.3:c.*1826G>C chr10.hg19:g.18965971G>C NA hg19 CCDS7131.1 0.02 1.839107 TGGxATG COVERED NOVEL ARL5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047078.1 3 12.942047 KEEP 0 0 0 43 1507 GG 1 0.9982 0 + 11 60 379 0 0 29.856023 60 60 1976 159 ENST00000377275.3 0.15493 0.9982 C10orf112 0 __UNKNOWN__ __UNKNOWN__ 10 19719308 19719308 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:19719308C>T ENST00000454679.2 + 14 2913 Q5VYJ5 MALR1_HUMAN NA NA cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) breast(1)|lung(2) 3 cctcccaaagcgctgggatta 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000454679.2:c.2913+40770C>T chr10.hg19:g.19719308C>T NA B7ZBP2 hg19 0.02 -0.21052 AAGxGCT COVERED NOVEL C10orf112-201 KNOWN basic|appris_principal protein_coding NA protein_coding 7 2.708839 KEEP 1 0 0 9 327 CC 0.99257 0.518282 0 + 3 60 89 1 0 6.406459 21 60 682 52 ENST00000454679.2 0.125 0.522161 C10orf112 0 __UNKNOWN__ __UNKNOWN__ 10 19779969 19779969 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:19779969T>C ENST00000492202.1 + 2 79 C10orf112_ENST00000455457.2_Intron|C10orf112_ENST00000454679.2_Intron Q5VYJ5 MALR1_HUMAN NA NA cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) breast(1)|lung(2) 3 ACCAATAAAGTTAACATCTTC 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000492202.1:c.80-477T>C chr10.hg19:g.19779969T>C NA B7ZBP2 hg19 0.02 -0.289422 AAGxTAA COVERED NOVEL C10orf112-003 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000343449.1 2 5.415906 KEEP 0 0 0 18 565 TT 0.999859 0.76078 0 + 16 60 533 0 0 51.008134 17 60 485 64 ENST00000492202.1 0.484848 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 21737700 21737700 __UNKNOWN__ IGR SNP T T G rs7904998 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:21737700T>G NA NA RP11-275N1.1 (75821 upstream) : Y_RNA (32944 downstream) NA NA NA agcactttggtaggccaaggt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.21737700T>G NA hg19 0.02 -0.236789 TGGxAGG UNCOVERED NOVEL 0 12 2.407083 KEEP 1 0 0 8 243 TT 0 0 0 3 60 105 0 0 7.894461 23 60 659 47 0.115385 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 24860082 24860082 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:24860082T>C NA NA KIAA1217 (23310 upstream) : ARHGAP21 (12455 downstream) NA NA NA cacctgtaattccagcacttt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.24860082T>C NA hg19 0.02 -0.350782 AATxCCA COVERED NOVEL 0 7 2.407237 KEEP 0 0 0 8 249 TT 0.99257 0.871187 0 4 60 121 0 0 8.611164 31 60 889 64 0.114286 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 25036676 25036676 __UNKNOWN__ IGR SNP C C A rs6482433|rs370794995 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:25036676C>A NA NA ARHGAP21 (24079 upstream) : PRTFDC1 (100859 downstream) NA NA NA tgtgagccaccacgcccagcc 0.527 NA C||| 3645 0.727835 0.6006 0.7406 5008 , , NA 15236 0.9008 NA 0.6213 False NA ,,, NA NA NA 2504 0.8221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.25036676C>A NA hg19 0.02 -0.219293 CACxACG UNCOVERED NOVEL 0 7 2.407697 KEEP 4 0 0 8 272 CC 0 0 0 7 60 209 0 0 18.615643 13 60 430 46 0.35 0.552887 GPR158 57512 __UNKNOWN__ __UNKNOWN__ 10 25499890 25499890 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:25499890A>G ENST00000376351.3 + 2 1261 NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 NA NA protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 gtgaaaccccatctctactaa 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032962 CCDS31166.1 10p12.31 2012-08-21 ENSG00000151025 ENSG00000151025 57512 GPCR / Class C : Orphans 23689 protein-coding gene gene with protein product 614573 NA Standard XM_166110 NM_020752 NA Approved KIAA1136 uc001isj.3 Q5T848 OTTHUMG00000017832 ENST00000376351.3:c.903-10091A>G chr10.hg19:g.25499890A>G NA Q6QR81|Q9ULT3 hg19 CCDS31166.1 0.02 -0.166553 CCCxTCT UNCOVERED NOVEL GPR158-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047248.2 7 2.405778 KEEP 2 0 0 8 227 AA 0 0 0 + 3 40 89 0 0 7.073616 12 60 316 33 ENST00000376351.3 0.2 0.353947 YME1L1 10730 __UNKNOWN__ __UNKNOWN__ 10 27408543 27408543 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:27408543T>G ENST00000376016.3 - 14 1593 YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron NM_014263.3 NP_055078.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase NA NA cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 ttggagaccatcctggccaac 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ132637 CCDS7151.1, CCDS7152.1, CCDS58072.1 10p14 2013-06-10 2013-06-10 ENSG00000136758 ENSG00000136758 10730 ATPases / AAA-type 12843 protein-coding gene gene with protein product 607472 YME1 (S.cerevisiae)-like 1, YME1-like 1 (S. cerevisiae) NA 22262461 Standard NM_139312 NM_139312 NA Approved uc001itj.3 Q96TA2 OTTHUMG00000017853 ENST00000376016.3:c.1412-165A>C chr10.hg19:g.27408543T>G NA B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9 hg19 CCDS7151.1 0.02 -0.131292 CCAxCCT COVERED NOVEL YME1L1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047305.1 4 5.115946 KEEP 0 0 0 17 548 TT 0.999366 0.229028 0 - 4 48 137 0 0 11.976641 10 60 273 37 ENST00000376016.3 0.285714 0.229173 MPP7 143098 __UNKNOWN__ __UNKNOWN__ 10 28345367 28345367 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:28345367T>C ENST00000375732.1 - 16 1811 MPP7_ENST00000540098.1_Intron|MPP7_ENST00000375719.3_Intron|MPP7_ENST00000337532.5_Intron Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) NA NA establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830) adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923) protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 ggattacaggtgtgggccacc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 119 115 116 NA NA NA 10 NA NA 28345367 2203 4300 6503 SO:0001627 intron_variant BC038105 CCDS7158.1 10p12.1 2004-01-15 ENSG00000150054 ENSG00000150054 143098 26542 protein-coding gene gene with protein product 610973 NA 14719143 Standard NM_173496 NM_173496 NA Approved FLJ32798 uc001iua.1 Q5T2T1 OTTHUMG00000017868 ENST00000375732.1:c.1551+41A>G chr10.hg19:g.28345367T>C NA B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28 hg19 CCDS7158.1 0.02 1.555631 AGGxGTG COVERED NOVEL MPP7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047345.1 16 14.374123 KEEP 1 1 38 61 1807 TT 1 0.99993 0 - 4 60 138 0 0 8.708285 81 60 2310 236 ENST00000375732.1 0.047059 0.99993 MPP7 143098 __UNKNOWN__ __UNKNOWN__ 10 28345371 28345371 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:28345371G>A ENST00000375732.1 - 16 1811 MPP7_ENST00000540098.1_Intron|MPP7_ENST00000375719.3_Intron|MPP7_ENST00000337532.5_Intron Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) NA NA establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830) adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923) protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 tacaggtgtgggccaccacac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 125 120 122 NA NA NA 10 NA NA 28345371 2203 4300 6503 SO:0001627 intron_variant BC038105 CCDS7158.1 10p12.1 2004-01-15 ENSG00000150054 ENSG00000150054 143098 26542 protein-coding gene gene with protein product 610973 NA 14719143 Standard NM_173496 NM_173496 NA Approved FLJ32798 uc001iua.1 Q5T2T1 OTTHUMG00000017868 ENST00000375732.1:c.1551+37C>T chr10.hg19:g.28345371G>A NA B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28 hg19 CCDS7158.1 0.02 3.411408 GTGxGCC COVERED NOVEL MPP7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047345.1 17 12.896806 KEEP 1 2 57 63 2174 GG 1 0.999968 0 - 8 60 249 0 0 17.081696 80 60 2674 249 ENST00000375732.1 0.090909 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 30235015 30235015 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:30235015C>T NA NA SVIL (210282 upstream) : KIAA1462 (66713 downstream) NA NA NA ttcactctgtcgcccaggctg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.30235015C>T NA hg19 0.02 -0.2456 TGTxGCC COVERED NOVEL 0 9 3.310559 KEEP 1 0 0 11 371 CC 0.993072 0.636904 0 3 60 93 0 2 6.749413 22 60 696 52 0.12 0.641347 KIAA1462 57608 __UNKNOWN__ __UNKNOWN__ 10 30302211 30302211 __UNKNOWN__ 3'UTR SNP G G C rs375412669 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:30302211G>C ENST00000375377.1 - 0 8782 KIAA1462_ENST00000464386.1_Intron NM_020848.2 NP_065899.1 Q9P266 JCAD_HUMAN KIAA1462 NA NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 tgcactccaggctgggcaaca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040895 CCDS41500.1 10p12.1 2013-04-23 ENSG00000165757 ENSG00000165757 57608 29283 protein-coding gene gene with protein product junctional protein associated with coronary artery disease 614398 NA 10819331, 21884682 Standard NM_020848 NM_020848 NA Approved JCAD uc001iux.3 Q9P266 OTTHUMG00000017885 ENST00000375377.1:c.*4601C>G chr10.hg19:g.30302211G>C NA Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2 hg19 CCDS41500.1 0.02 -0.3509 CAGxCTG COVERED NOVEL KIAA1462-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047409.1 7 3.912888 KEEP 0 0 0 13 471 GG 0.994391 0.872784 0 - 3 60 102 0 0 7.039894 36 60 1216 63 ENST00000375377.1 0.076923 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 30373073 30373073 __UNKNOWN__ IGR SNP G G A rs553152579|rs576474708 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:30373073G>A NA NA KIAA1462 (24620 upstream) : RNU6-598P (215424 downstream) NA NA NA gaagagaaaagaaaaaagaaa 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.30373073G>A NA hg19 0.02 -0.315529 AAAxAAA COVERED NOVEL 0 8 5.417588 KEEP 0 0 0 18 636 GG 0.999859 0.818349 0 4 60 111 1 0 7.778928 28 60 894 69 0.125 0.818465 MTPAP 55149 __UNKNOWN__ __UNKNOWN__ 10 30634713 30634713 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:30634713T>C ENST00000263063.4 - 1 201 MTPAP_ENST00000488290.1_Intron|MTPAP_ENST00000358107.4_Intron NM_018109.3 NP_060579.3 Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase NA NA cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134) breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 cagtggctcatgcctgtaatc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL122121 CCDS7165.1 10p12.1 2014-01-30 2009-01-12 2009-01-12 ENSG00000107951 ENSG00000107951 55149 25532 protein-coding gene gene with protein product TUTase1 613669 PAP associated domain containing 1 PAPD1 NA 12239557, 15769737, 15547249 Standard NM_018109 NM_018109 NA Approved FLJ10486, mtPAP, SPAX4 uc001iva.4 Q9NVV4 OTTHUMG00000017895 ENST00000263063.4:c.157+3334A>G chr10.hg19:g.30634713T>C NA D3DRX0|Q659E3|Q6P7E5|Q9HA74 hg19 CCDS7165.1 0.02 -0.219265 TCAxGCC COVERED NOVEL MTPAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047426.2 7 2.407404 KEEP 1 0 0 8 255 TT 0.99257 0.54878 0 - 3 60 95 0 0 7.492294 14 60 418 51 ENST00000263063.4 0.176471 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 30834987 30834987 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:30834987A>G NA NA MAP3K8 (84225 upstream) : RP11-253D19.1 (7795 downstream) NA NA NA tcaggagatcaagaccatcct 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.30834987A>G NA hg19 0.02 -0.18417 ATCxAGA COVERED NOVEL 0 12 2.707924 KEEP 7 0 0 9 273 AA 0.99254 0.420319 0 3 60 98 0 0 7.63354 16 60 467 57 0.157895 0.423478 EPC1 80314 __UNKNOWN__ __UNKNOWN__ 10 32598521 32598521 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:32598521C>T ENST00000319778.6 - 2 456 EPC1_ENST00000263062.8_Intron|EPC1_ENST00000375110.2_Intron NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) NA NA chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351) NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) cggtggctcacgcctgtaatc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF277374 CCDS7172.1, CCDS60511.1, CCDS73083.1 10p11 2005-12-12 ENSG00000120616 ENSG00000120616 80314 19876 protein-coding gene gene with protein product 610999 NA 10976108 Standard NM_025209 NA Approved Epl1 uc001iwg.2 Q9H2F5 OTTHUMG00000017925 ENST00000319778.6:c.154-3662G>A chr10.hg19:g.32598521C>T NA B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7 hg19 0.02 -0.219305 TCAxGCC COVERED NOVEL EPC1-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000047482.1 6 3.912491 KEEP 2 0 0 13 452 CC 0.994391 0.549786 0 - 3 60 88 0 0 6.427944 19 60 639 59 ENST00000319778.6 0.136364 0.552887 PARD3 56288 __UNKNOWN__ __UNKNOWN__ 10 34552373 34552373 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:34552373C>T ENST00000374789.3 - 22 3754 PARD3_ENST00000346874.4_Intron|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000545693.1_Intron|PARD3_ENST00000350537.4_Intron|PARD3_ENST00000374788.3_Intron NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator NA NA apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319) apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) tcacttgagcccaggagtttg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF252293 CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1 10p11.22 2014-06-13 2013-08-28 ENSG00000148498 ENSG00000148498 56288 16051 protein-coding gene gene with protein product atypical PKC isotype-specific interacting protein, par-3 family cell polarity regulator alpha, protein phosphatase 1, regulatory subunit 118 606745 par-3 (partitioning defective 3, C.elegans) homolog, par-3 partitioning defective 3 homolog (C. elegans) NA 10934474 Standard NM_019619 NM_001184790 NA Approved PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118 uc010qej.2 Q8TEW0 OTTHUMG00000017948 ENST00000374789.3:c.3428+6211G>A chr10.hg19:g.34552373C>T NA F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6 hg19 CCDS7178.1 0.02 -0.228081 AGCxCAG COVERED NOVEL PARD3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047527.1 3 2.708812 KEEP 1 0 0 9 316 CC 0.99254 0.578582 0 - 3 60 89 0 0 6.349848 22 60 743 59 ENST00000374789.3 0.12 0.58293 PARD3 56288 __UNKNOWN__ __UNKNOWN__ 10 34992050 34992050 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:34992050T>G ENST00000374789.3 - 2 446 PARD3_ENST00000346874.4_Intron|PARD3_ENST00000374773.1_Intron|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374776.1_Intron|PARD3_ENST00000545693.1_Intron|PARD3_ENST00000340077.5_Intron|PARD3_ENST00000350537.4_Intron|PARD3_ENST00000374788.3_Intron NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator NA NA apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319) apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) agtggttcattcctgtaatcc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF252293 CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1 10p11.22 2014-06-13 2013-08-28 ENSG00000148498 ENSG00000148498 56288 16051 protein-coding gene gene with protein product atypical PKC isotype-specific interacting protein, par-3 family cell polarity regulator alpha, protein phosphatase 1, regulatory subunit 118 606745 par-3 (partitioning defective 3, C.elegans) homolog, par-3 partitioning defective 3 homolog (C. elegans) NA 10934474 Standard NM_019619 NM_001184790 NA Approved PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118 uc010qej.2 Q8TEW0 OTTHUMG00000017948 ENST00000374789.3:c.121-6703A>C chr10.hg19:g.34992050T>G NA F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6 hg19 CCDS7178.1 0.02 -0.236752 CATxCCT COVERED NOVEL PARD3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047527.1 4 2.407312 KEEP 0 0 0 8 254 TT 0.99257 0.636582 0 - 3 60 97 0 0 7.206399 21 60 590 51 ENST00000374789.3 0.125 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 35944089 35944089 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:35944089T>C NA NA FZD8 (13727 upstream) : RP11-309N24.1 (241712 downstream) NA NA NA gctgggattataggcgtgagc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.35944089T>C NA hg19 0.02 -0.184188 TTAxAGG COVERED NOVEL 0 1 2.407181 KEEP 0 0 0 8 245 TT 0.99257 0.420331 0 3 60 96 0 0 7.679068 13 60 381 49 0.1875 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 37753398 37753398 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:37753398T>C NA NA ANKRD30A (80359 upstream) : MTRNR2L7 (136967 downstream) NA NA NA cctgtaatcctagcactttgg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.37753398T>C NA hg19 0.02 -0.192933 TCCxAGC COVERED NOVEL 0 8 2.707381 KEEP 0 0 0 9 271 TT 0.99254 0.454342 0 3 60 93 0 0 6.993435 18 60 519 44 0.142857 0.457757 ZNF33A 7581 __UNKNOWN__ __UNKNOWN__ 10 38345980 38345980 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:38345980C>A ENST00000374618.3 + 0 3106 ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_3'UTR NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 tccaagaaatcgatgttacct 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D31763 CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1 10p11.2 2013-01-08 2005-03-18 ENSG00000189180 ENSG00000189180 7581 Zinc fingers, C2H2-type, - 13096 protein-coding gene gene with protein product zinc finger and ZAK associated protein with KRAB domain 194521 zinc finger protein 33a (KOX 31), zinc finger protein 11A ZNF33, ZNF11A NA 2014798, 8464732 Standard NM_006974 NM_006974 NA Approved KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK uc031pui.1 Q06730 OTTHUMG00000017983 ENST00000374618.3:c.*492C>A chr10.hg19:g.38345980C>A NA A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86 hg19 CCDS44372.1 0.02 1.403479 AATxGAT COVERED NOVEL ZNF33A-202 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000047614.1 10 15.332837 KEEP 0 0 0 51 1681 CC 1 0.995084 0 + 26 60 754 0 0 69.023039 38 60 1203 158 ENST00000374618.3 0.40625 0.995084 ZNF37A 7587 __UNKNOWN__ __UNKNOWN__ 10 38409333 38409333 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:38409333A>G ENST00000361085.5 + 0 3599 ZNF37A_ENST00000351773.3_3'UTR NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 ctccagcctgagtgacagaga 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X69115 CCDS31183.1 10p11.2 2013-01-08 2006-05-11 ENSG00000075407 ENSG00000075407 7587 Zinc fingers, C2H2-type, - 13102 protein-coding gene gene with protein product zinc finger protein 37a (KOX 21) NA 2014798, 8464732 Standard NM_003421 NM_001178101 NA Approved KOX21, ZNF37 uc001izl.3 P17032 OTTHUMG00000017990 ENST00000361085.5:c.*1568A>G chr10.hg19:g.38409333A>G NA B3KRQ3|D3DRZ3|Q96B88 hg19 CCDS31183.1 0.02 1.722012 CTGxGTG COVERED NOVEL ZNF37A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047624.2 12 5.717663 KEEP 0 0 0 19 613 AA 0.99986 0.998555 0 + 6 60 201 0 0 14.193662 61 60 1839 121 ENST00000361085.5 0.089552 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 39043099 39043099 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:39043099A>G NA NA RP11-291L22.4 (287995 upstream) : None (None downstream) NA NA NA ggctgaggcaagagaatcacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.39043099A>G NA hg19 0.02 -0.184173 GCAxGAG COVERED NOVEL 0 6 2.708465 KEEP 3 0 0 9 292 AA 0.99257 0.454356 0 3 60 95 0 0 7.193548 18 60 540 44 0.142857 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42385586 42385586 __UNKNOWN__ IGR SNP G G C rs4300977 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42385586G>C NA NA None (None upstream) : AL031601.1 (344764 downstream) NA NA NA gaatggaattgtcatcaaatg 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42385586G>C NA hg19 0.02 14.680454 ATTxTCA COVERED NOVEL 0 100 29.730415 KEEP 156 12 431 249 8851 GG 1 1 0 14 49 473 2 0 28.543027 332 60 11372 1209 0.040462 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42385595 42385595 __UNKNOWN__ IGR SNP T T C rs9665576 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42385595T>C NA NA None (None upstream) : AL031601.1 (344755 downstream) NA NA NA tgtcatcaaatggaattcaaa 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42385595T>C NA hg19 0.02 14.63485 AAAxGGA COVERED NOVEL 0 101 21.528586 KEEP 186 16 515 252 7917 TT 1 1 0 17 49 557 2 0 33.911451 352 60 10550 1251 0.04607 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42385627 42385627 __UNKNOWN__ IGR SNP C C T rs74206654|rs9703387 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42385627C>T NA NA None (None upstream) : AL031601.1 (344723 downstream) NA NA NA caaatggaaccgaatggaatc 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42385627C>T NA hg19 0.02 9.906221 AACxGAA COVERED NOVEL 0 100 43.978142 KEEP 236 11 350 269 8906 CC 1 1 0 16 47 455 0 0 24.846991 341 54 10921 1239 0.044818 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42387303 42387303 __UNKNOWN__ IGR SNP C C A rs139851125|rs151167423 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42387303C>A NA NA None (None upstream) : AL031601.1 (343047 downstream) NA NA NA aatcattgaacagaattgaat 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42387303C>A NA hg19 0.02 9.132002 GAAxAGA COVERED NOVEL 0 75 34.824523 KEEP 99 11 343 236 8436 CC 1 1 0 11 49 328 2 0 19.674492 185 60 6342 1006 0.056122 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42387759 42387759 __UNKNOWN__ IGR SNP A A G rs141006098 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42387759A>G NA NA None (None upstream) : AL031601.1 (342591 downstream) NA NA NA aatggaatctaatggaatcat 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42387759A>G NA hg19 0.02 6.005849 TCTxATG COVERED NOVEL 0 54 8.416455 KEEP 135 8 305 134 4329 AA 1 1 0 6 46 207 1 0 15.436835 47 59 1337 648 0.113208 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42388344 42388344 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42388344T>A NA NA None (None upstream) : AL031601.1 (342006 downstream) NA NA NA atcatgaaattgaaatggatg 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42388344T>A NA hg19 0.02 4.179465 AATxGAA COVERED NOVEL 0 71 35.369134 KEEP 322 8 243 203 6262 TT 1 1 0 11 43 315 0 0 19.832823 135 47 3948 966 0.075342 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42388387 42388387 __UNKNOWN__ IGR SNP T T C rs151308269 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42388387T>C NA NA None (None upstream) : AL031601.1 (341963 downstream) NA NA NA aatggaatcatcgaatgaaat 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42388387T>C NA hg19 0.02 5.370789 TCAxCGA COVERED NOVEL 0 88 4.666565 KEEP 388 17 600 225 7105 TT 1 1 0 6 47 202 0 0 12.492079 125 47 3707 999 0.045802 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42388501 42388501 __UNKNOWN__ IGR SNP A A C rs9330477 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42388501A>C NA NA None (None upstream) : AL031601.1 (341849 downstream) NA NA NA aatggaatcgaatggattcat 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42388501A>C NA hg19 0.02 -0.412033 TCGxATG COVERED NOVEL 0 37 11.429358 KEEP 69 3 103 74 2149 AA 1 0.941741 0 3 40 103 0 0 7.409485 29 47 795 194 0.09375 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42392245 42392245 __UNKNOWN__ IGR SNP C C T rs28788857 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42392245C>T NA NA None (None upstream) : AL031601.1 (338105 downstream) NA NA NA tgatcatcatcgaatggactc 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42392245C>T NA hg19 0.02 1.19934 CATxGAA COVERED NOVEL 0 24 3.380129 KEEP 84 5 141 61 2007 CC 1 0.99911 0 7 40 194 0 0 14.773148 32 60 948 254 0.179487 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42392354 42392354 __UNKNOWN__ IGR SNP T T A rs61848546 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42392354T>A NA NA None (None upstream) : AL031601.1 (337996 downstream) NA NA NA atcatgaaattgaaatggatg 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42392354T>A NA hg19 0.02 2.784666 AATxGAA COVERED NOVEL 0 36 13.938569 KEEP 127 3 90 78 2392 TT 1 0.999996 0 9 44 265 0 0 17.920981 85 46 2541 384 0.095745 0.999996 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42392377 42392377 __UNKNOWN__ IGR SNP A A G rs28836250 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42392377A>G NA NA None (None upstream) : AL031601.1 (337973 downstream) NA NA NA ctcatcatcgaatggattcga 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42392377A>G NA hg19 0.02 1.211328 TCGxATG COVERED NOVEL 0 13 5.672935 KEEP 39 2 57 39 1058 AA 0.999998 0.999833 0 6 27 166 0 0 10.402044 69 40 1713 182 0.08 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42392754 42392754 __UNKNOWN__ IGR SNP A A C rs142326516 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42392754A>C NA NA None (None upstream) : AL031601.1 (337596 downstream) NA NA NA aatgcaatcgaatggaattat 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42392754A>C NA hg19 0.02 10.100624 TCGxATG COVERED NOVEL 0 93 17.684575 KEEP 44 10 353 182 5427 AA 1 1 0 15 49 502 0 0 33.907146 195 60 5389 642 0.071429 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42393844 42393844 __UNKNOWN__ IGR SNP A A C rs74209135 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42393844A>C NA NA None (None upstream) : AL031601.1 (336506 downstream) NA NA NA aatggaatcgaatggattcat 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42393844A>C NA hg19 0.02 7.903776 TCGxATG COVERED NOVEL 0 84 2.554767 KEEP 93 13 475 174 5220 AA 1 1 0 13 47 427 0 0 30.043014 129 60 3548 633 0.091549 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42394512 42394512 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42394512G>A NA NA None (None upstream) : AL031601.1 (335838 downstream) NA NA NA tcatcgaatagaatcgaatgg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42394512G>A NA hg19 0.02 1.555149 ATAxAAT COVERED NOVEL 0 25 9.702474 KEEP 46 2 65 55 1968 GG 1 0.989542 0 5 47 154 0 0 11.130805 37 60 1269 224 0.119048 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42528017 42528017 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42528017A>G NA NA None (None upstream) : AL031601.1 (202333 downstream) NA NA NA tcttctgtctagcattatatg 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42528017A>G NA hg19 0.02 20.695886 TCTxGCA COVERED NOVEL 0 187 22.499154 KEEP 141 18 640 298 9468 AA 1 1 0 12 60 392 0 0 29.473009 80 60 2325 1476 0.130435 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42597808 42597808 __UNKNOWN__ IGR SNP A A C rs138532525 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42597808A>C NA NA None (None upstream) : AL031601.1 (132542 downstream) NA NA NA aatgcaatcgaatggaattat 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42597808A>C NA hg19 0.02 8.037802 TCGxATG COVERED NOVEL 0 88 8.982328 KEEP 94 10 362 156 5002 AA 1 1 0 8 49 280 0 0 18.531508 131 60 3965 701 0.057554 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42599166 42599166 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42599166A>G NA NA None (None upstream) : AL031601.1 (131184 downstream) NA NA NA aatcaaatggaattatcgaat 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42599166A>G NA hg19 0.02 -0.175395 TGGxATT COVERED NOVEL 0 42 8.159418 KEEP 60 1 37 40 1262 AA 0.99649 0.386047 0 3 42 101 0 0 8.091955 14 25 403 135 0.176471 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42618107 42618107 __UNKNOWN__ IGR SNP G G A rs375213667 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42618107G>A NA NA None (None upstream) : AL031601.1 (112243 downstream) NA NA NA aactgggcatggtggcaagtg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42618107G>A NA hg19 0.02 -0.10525 CATxGTG UNCOVERED NOVEL 0 9 2.708866 KEEP 14 0 0 9 321 GG 0 0 0 3 40 82 0 0 7.142935 6 60 193 36 0.333333 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42647903 42647903 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42647903G>A NA NA None (None upstream) : AL031601.1 (82447 downstream) NA NA NA taaagatggggtttcaccatg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42647903G>A NA hg19 0.02 -0.377213 GGGxTTT COVERED NOVEL 0 27 4.814257 KEEP 12 0 0 16 547 GG 0.995343 0.904836 0 7 47 212 0 0 16.839774 29 60 982 92 0.194444 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42747745 42747745 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42747745G>A NA NA AL031601.1 (17322 upstream) : RP11-313J2.1 (79568 downstream) NA NA NA tcctgacctcgtgatccgcct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42747745G>A NA hg19 0.02 -0.41064 CTCxTGA COVERED NOVEL 0 11 3.007316 KEEP 2 0 0 10 318 GG 0.992708 0.934874 0 5 50 154 0 1 11.312647 34 60 1038 86 0.128205 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42797295 42797295 __UNKNOWN__ IGR SNP C C T rs376165997 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:42797295C>T NA NA AL031601.1 (66872 upstream) : RP11-313J2.1 (30018 downstream) NA NA NA attccattcgcgtccattcca 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42797295C>T NA hg19 0.02 -0.157886 TCGxGTC COVERED NOVEL 0 33 4.812717 KEEP 15 0 0 16 540 CC 0.993072 0.32057 0 2 60 58 0 0 6.752649 0 0 0 52 1 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 44100293 44100293 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:44100293A>C NA NA ZNF239 (30227 upstream) : ZNF485 (1561 downstream) NA NA NA CACTTCGCTTATCCAGCAATT 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.44100293A>C NA hg19 0.02 1.912692 CTTxTCC COVERED NOVEL 0 3 13.219372 KEEP 10 0 0 44 1333 AA 1 0.998867 0 29 60 973 0 0 88.990178 48 60 1358 189 0.376623 0.998867 ZNF485 220992 __UNKNOWN__ __UNKNOWN__ 10 44113198 44113198 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:44113198T>G ENST00000361807.3 + 0 1901 ZNF485_ENST00000374435.3_3'UTR NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 ctgggcaacatagcaagactc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074679 CCDS7205.2 10q11.21 2013-01-08 ENSG00000198298 ENSG00000198298 220992 Zinc fingers, C2H2-type, - 23440 protein-coding gene gene with protein product NA Standard NM_145312 NM_145312 NA Approved uc010qfc.2 Q8NCK3 OTTHUMG00000018040 ENST00000361807.3:c.*381T>G chr10.hg19:g.44113198T>G NA B4DSE6|Q96CL0 hg19 CCDS7205.2 0.02 -0.33323 ACAxAGC COVERED NOVEL ZNF485-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047719.2 5 5.114994 KEEP 0 0 0 17 518 TT 0.999366 0.865197 0 + 4 60 136 0 1 10.108749 31 60 864 69 ENST00000361807.3 0.114286 0.865745 ZFAND4 93550 __UNKNOWN__ __UNKNOWN__ 10 46145715 46145715 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:46145715A>C ENST00000344646.5 - 4 544 ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000335258.7_3'UTR|ZFAND4_ENST00000374366.3_Intron NM_001128324.2|NM_174890.2 NP_001121796.1|NP_777550.2 Q86XD8 ZFAN4_HUMAN zinc finger, AN1-type domain 4 NA NA zinc ion binding (GO:0008270) NA agcaattctcatgtctcagcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF311324 CCDS7214.1, CCDS60520.1 10q11.22 2013-01-09 2011-11-10 2011-11-10 ENSG00000172671 ENSG00000172671 93550 Zinc fingers, AN1-type domain containing 23504 protein-coding gene gene with protein product AN1, ubiquitin-like, homolog (Xenopus laevis) ANUBL1 NA Standard NM_174890 XM_005271837 NA Approved FLJ40185 uc001jcp.4 Q86XD8 OTTHUMG00000018085 ENST00000344646.5:c.328+1698T>G chr10.hg19:g.46145715A>C NA A8K8V4|B2RAX2|Q5VVY5 hg19 CCDS7214.1 0.02 1.529373 CTCxTGT COVERED NOVEL ZFAND4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047790.1 15 9.627131 KEEP 1 0 0 32 960 AA 0.999997 0.999953 0 - 6 60 200 0 0 13.295738 84 60 2396 175 ENST00000344646.5 0.066667 0.999956 ZFAND4 93550 __UNKNOWN__ __UNKNOWN__ 10 46145718 46145718 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:46145718T>C ENST00000344646.5 - 4 544 ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000335258.7_3'UTR|ZFAND4_ENST00000374366.3_Intron NM_001128324.2|NM_174890.2 NP_001121796.1|NP_777550.2 Q86XD8 ZFAN4_HUMAN zinc finger, AN1-type domain 4 NA NA zinc ion binding (GO:0008270) NA aattctcatgtctcagcctcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF311324 CCDS7214.1, CCDS60520.1 10q11.22 2013-01-09 2011-11-10 2011-11-10 ENSG00000172671 ENSG00000172671 93550 Zinc fingers, AN1-type domain containing 23504 protein-coding gene gene with protein product AN1, ubiquitin-like, homolog (Xenopus laevis) ANUBL1 NA Standard NM_174890 XM_005271837 NA Approved FLJ40185 uc001jcp.4 Q86XD8 OTTHUMG00000018085 ENST00000344646.5:c.328+1695A>G chr10.hg19:g.46145718T>C NA A8K8V4|B2RAX2|Q5VVY5 hg19 CCDS7214.1 0.02 1.538455 ATGxCTC COVERED NOVEL ZFAND4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047790.1 14 6.353675 KEEP 1 1 31 32 1022 TT 0.999998 0.999937 0 - 6 60 195 0 0 13.049967 76 60 2205 173 ENST00000344646.5 0.073171 0.99994 SYT15 83849 __UNKNOWN__ __UNKNOWN__ 10 46960861 46960861 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:46960861G>A ENST00000374323.4 - 0 3121 SYT15_ENST00000449358.2_Intron|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA Q9BQS2 SYT15_HUMAN synaptotagmin XV NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 ccgagatcacgccattgcact 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(57;1152 1428 19651 37745) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ303363 CCDS73103.1, CCDS73104.1 10q11.1 2013-01-21 ENSG00000204176 ENSG00000204176 83849 Synaptotagmins 17167 protein-coding gene gene with protein product 608081 NA 11543631 Standard NM_031912 NM_031912 NA Approved CHR10SYT uc001jea.3 Q9BQS2 OTTHUMG00000018103 ENST00000374323.4:c.*1109C>T chr10.hg19:g.46960861G>A NA A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440 hg19 0.02 1.377507 CACxCCA COVERED NOVEL SYT15-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000123282.3 10 6.921084 KEEP 11 0 0 23 745 GG 0.999863 0.996587 0 - 4 60 119 0 0 7.692346 48 67 1453 113 ENST00000374323.4 0.076923 0.996724 SYT15 83849 __UNKNOWN__ __UNKNOWN__ 10 46963135 46963135 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:46963135G>C ENST00000374321.4 - 7 1190 SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000374323.4_Intron|RP11-38L15.3_ENST00000506914.1_RNA NM_031912.4 NP_114118.2 Q9BQS2 SYT15_HUMAN synaptotagmin XV NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 ctcactgcaagctccgcctcc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(57;1152 1428 19651 37745) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ303363 CCDS73103.1, CCDS73104.1 10q11.1 2013-01-21 ENSG00000204176 ENSG00000204176 83849 Synaptotagmins 17167 protein-coding gene gene with protein product 608081 NA 11543631 Standard NM_031912 NM_031912 NA Approved CHR10SYT uc001jea.3 Q9BQS2 OTTHUMG00000018103 ENST00000374321.4:c.1123+704C>G chr10.hg19:g.46963135G>C NA A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440 hg19 CCDS44376.1 0.02 -0.429824 CAAxCTC COVERED NOVEL SYT15-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367008.1 8 3.60803 KEEP 2 0 0 12 389 GG 0.993634 0.948414 0 - 4 60 120 0 0 8.05107 41 60 1373 73 ENST00000374321.4 0.088889 0.954491 LINC00842 643650 __UNKNOWN__ __UNKNOWN__ 10 47105765 47105765 __UNKNOWN__ lincRNA SNP G G A rs1891893 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:47105765G>A ENST00000422732.2 - 0 435 NR_033957.2 long intergenic non-protein coding RNA 842 NA NA NA gtgaaacaccgtctctactac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 10q11.22 2013-01-04 ENSG00000223477 ENSG00000274909 643650 Long non-coding RNAs 44989 non-coding RNA RNA, long non-coding NA Standard NR_033957 NR_033957 NA Approved uc001jef.3 OTTHUMG00000018109 ENST00000422732.2: chr10.hg19:g.47105765G>A NA hg19 0.02 -0.122779 ACCxTCT COVERED NOVEL LINC00842-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000047838.2 3 2.40726 KEEP 0 0 0 8 261 GG 0.99257 0.194853 0 - 7 60 188 0 0 18.595651 5 60 167 29 ENST00000422732.2 0.583333 0.196312 GLUD1P2 100381203 __UNKNOWN__ __UNKNOWN__ 10 48968566 48968566 __UNKNOWN__ RNA SNP A A G rs201727873 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:48968566A>G ENST00000594520.1 + 0 723 glutamate dehydrogenase 1 pseudogene 2 NA NA NA ACAGGATAACAAACTGGAAAA 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA X66313, X66315, X66319 10q11.22 2013-02-15 2010-01-18 2010-01-18 ENSG00000227781 NA 4337 pseudogene pseudogene glutamate dehydrogenase pseudogene 2 GLUDP2 NA 8486350 Standard NG_016765 NA Approved OTTHUMG00000018156 ENST00000594520.1: chr10.hg19:g.48968566A>G NA hg19 0.02 -0.289428 AACxAAC COVERED NOVEL GLUD1P2-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000461126.1 3 4.514203 KEEP 0 0 0 15 489 AA 0.99649 0.758216 0 + 4 40 121 0 0 8.718585 29 49 870 71 ENST00000594520.1 0.121212 0.760887 FAM25C 644054 __UNKNOWN__ __UNKNOWN__ 10 49205344 49205344 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:49205344C>T ENST00000342763.4 - 2 155 FAM25C_ENST00000479781.1_Intron NM_001137548.1 NP_001131020.1 B3EWG5 FM25C_HUMAN family with sequence similarity 25, member C NA NA NA ggggtttcaccgtgttagcca 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 10q11.22 2008-08-13 ENSG00000188279 644054 23586 protein-coding gene gene with protein product NA Standard NM_001137548 NA Approved bA164N7.4 uc010qfw.2 B3EWG5 OTTHUMG00000018165 ENST00000342763.4:c.136+366G>A chr10.hg19:g.49205344C>T NA B2RV02|Q5VTM1 hg19 CCDS44383.1 0.02 -0.122795 CACxGTG UNCOVERED NOVEL FAM25C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047913.2 3 2.708769 KEEP 7 0 0 9 313 CC 0 0 0 - 3 40 87 0 0 6.973017 11 50 350 32 ENST00000342763.4 0.214286 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 49217501 49217501 __UNKNOWN__ IGR SNP G G A rs376896679 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:49217501G>A NA NA FAM25C (9683 upstream) : RNA5SP315 (30974 downstream) NA NA NA ACTAGCTGACGTTATTACTTC 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.49217501G>A NA hg19 0.02 -0.140284 GACxTTA COVERED NOVEL 0 3 2.40722 KEEP 0 0 0 8 274 GG 0.99257 0.259026 0 3 24 92 0 0 7.373012 12 53 356 31 0.2 0.260965 WDFY4 57705 __UNKNOWN__ __UNKNOWN__ 10 50062423 50062423 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:50062423G>A ENST00000325239.5 + 39 6690 WDFY4_ENST00000413659.2_Intron NM_020945.1 NP_065996.1 Q6ZS81 WDFY4_HUMAN WDFY family member 4 NA NA integral component of membrane (GO:0016021) NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1) 48 caaagtgctgggattacaggc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074085 CCDS44385.1 10q11.23 2013-01-10 ENSG00000128815 ENSG00000128815 57705 WD repeat domain containing 29323 protein-coding gene gene with protein product 613316 chromosome 10 open reading frame 64 C10orf64 NA 10997877 Standard XM_033379 NM_020945 NA Approved KIAA1607, Em:AC060234.3, FLJ45748 uc001jha.4 Q6ZS81 OTTHUMG00000018180 ENST00000325239.5:c.6664-12887G>A chr10.hg19:g.50062423G>A NA B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5 hg19 CCDS44385.1 0.02 -0.298225 CTGxGAT COVERED NOVEL WDFY4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 2 3.310571 KEEP 0 0 0 11 387 GG 0.993072 0.794702 0 + 4 60 112 0 0 7.819821 29 60 974 66 ENST00000325239.5 0.121212 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 51391524 51391524 __UNKNOWN__ IGR SNP A A G rs374026343 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:51391524A>G NA NA TIMM23B (3756 upstream) : AGAP7 (72637 downstream) NA NA NA gccaggctgcagtgcagtggc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.51391524A>G NA hg19 0.02 1.362464 TGCxGTG COVERED NOVEL 0 10 12.636035 KEEP 11 0 0 42 1269 AA 1 0.999487 0 5 48 160 0 0 10.506121 67 57 1902 163 0.069444 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 51537132 51537132 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:51537132G>A NA NA AGAP7 (50805 upstream) : MSMB (12365 downstream) NA NA NA gattacaggcgtgagccactg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.51537132G>A NA hg19 0.02 2.780433 GGCxTGA COVERED NOVEL 0 22 5.721556 KEEP 3 3 94 52 1736 GG 1 1 0 6 60 180 1 0 10.360702 122 60 4018 273 0.046875 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 51537144 51537144 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:51537144A>G NA NA AGAP7 (50817 upstream) : MSMB (12353 downstream) NA NA NA gagccactgcacccagccagg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.51537144A>G NA hg19 0.02 3.470435 TGCxCCC COVERED NOVEL 0 26 14.678987 KEEP 2 1 32 60 1900 AA 1 1 0 7 60 249 1 1 16.109883 136 60 4025 303 0.048951 1 NCOA4 8031 __UNKNOWN__ __UNKNOWN__ 10 51585678 51585678 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:51585678T>C ENST00000443446.1 + 8 1927 NCOA4_ENST00000438493.1_Intron|NCOA4_ENST00000344348.6_Intron|NCOA4_ENST00000374082.1_Intron|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000452682.1_Intron|NCOA4_ENST00000374087.4_Intron NM_001145262.1 NP_001138734.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 NA NA androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 tctctgtcactcaggctggag 0.507 NA T RET papillary thyroid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 10 10q11.2 8031 nuclear receptor coactivator 4 - PTC3 (ELE1) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L49399 CCDS73092.1, CCDS73093.1, CCDS73094.1 10q11.2 2014-04-10 ENSG00000138293 ENSG00000266412 8031 7671 protein-coding gene gene with protein product RET-activating gene ELE1 601984 NA 8290261, 8643607, 24695223 Standard NM_005437 NM_001145260 NA Approved ARA70, RFG, ELE1, PTC3, DKFZp762E1112 uc009xon.3 Q13772 OTTHUMG00000188314 ENST00000443446.1:c.1698+79T>C chr10.hg19:g.51585678T>C NA A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239 hg19 CCDS7237.1 0.02 -0.306601 CACxCAG COVERED NOVEL NCOA4-204 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048052.1 3 4.047896 KEEP 1 1 36 26 838 TT 0.999988 0.800236 0 + 4 60 136 1 0 10.219518 29 60 849 82 ENST00000443446.1 0.121212 0.800245 NCOA4 8031 __UNKNOWN__ __UNKNOWN__ 10 51585712 51585712 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:51585712T>C ENST00000443446.1 + 8 1927 NCOA4_ENST00000438493.1_Intron|NCOA4_ENST00000344348.6_Intron|NCOA4_ENST00000374082.1_Intron|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000452682.1_Intron|NCOA4_ENST00000374087.4_Intron NM_001145262.1 NP_001138734.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 NA NA androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 tctcagctcattgcaacctcc 0.502 NA T RET papillary thyroid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 10 10q11.2 8031 nuclear receptor coactivator 4 - PTC3 (ELE1) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L49399 CCDS73092.1, CCDS73093.1, CCDS73094.1 10q11.2 2014-04-10 ENSG00000138293 ENSG00000266412 8031 7671 protein-coding gene gene with protein product RET-activating gene ELE1 601984 NA 8290261, 8643607, 24695223 Standard NM_005437 NM_001145260 NA Approved ARA70, RFG, ELE1, PTC3, DKFZp762E1112 uc009xon.3 Q13772 OTTHUMG00000188314 ENST00000443446.1:c.1698+113T>C chr10.hg19:g.51585712T>C NA A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239 hg19 CCDS7237.1 0.02 -0.219174 TCAxTGC COVERED NOVEL NCOA4-204 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048052.1 3 4.212519 KEEP 0 0 0 14 445 TT 0.995343 0.550313 0 + 4 60 127 0 0 10.170315 17 60 479 48 ENST00000443446.1 0.190476 0.552887 ASAH2 56624 __UNKNOWN__ __UNKNOWN__ 10 51946825 51946825 __UNKNOWN__ 3'UTR SNP G G A rs61856759 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:51946825G>A ENST00000395526.4 - 0 2592 NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 NA NA apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) ceramidase activity (GO:0017040) large_intestine(1)|lung(9)|urinary_tract(1) 11 GGCTGCTGGAGCAAGATATAT 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF250847 CCDS7239.2, CCDS44398.1 10q11.23 2008-08-11 ENSG00000188611 ENSG00000188611 56624 18860 protein-coding gene gene with protein product 611202 NA 10781606 Standard NM_019893 NM_019893 NA Approved uc001jjd.3 Q9NR71 OTTHUMG00000018223 ENST00000395526.4:c.*250C>T chr10.hg19:g.51946825G>A NA Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6 hg19 CCDS7239.2 0.02 7.193895 GGAxCAA COVERED NOVEL ASAH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048061.3 77 3.345528 KEEP 25 7 231 92 3300 GG 1 1 0 - 14 40 412 0 0 23.941381 259 60 8931 538 ENST00000395526.4 0.051282 1 PCDH15 65217 __UNKNOWN__ __UNKNOWN__ 10 55582217 55582217 __UNKNOWN__ Missense_Mutation SNP A A G rs369404101|rs397517463|rs542243503 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:55582217A>G ENST00000361849.3 - 34 5669 c.5275T>C c.(5275-5277)Tct>Cct p.S1759P PCDH15_ENST00000395433.1_Missense_Mutation_p.S1734P|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1754P|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1688P|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1717P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1757P NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1757 NA equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202) calcium ion binding (GO:0005509) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ggaggaggagaaggaggagaa 0.478 NA HNSCC(58;0.16) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 15 16 15 NA NA NA 10 NA NA 55582217 2202 4299 6501 SO:0001583 missense AY029205 CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1 10q21.1 2013-01-08 2010-01-25 ENSG00000150275 ENSG00000150275 65217 Cadherins / Cadherin-related 14674 protein-coding gene gene with protein product cadherin-related family member 15 605514 deafness, autosomal recessive 23, protocadherin 15 USH1F, DFNB23 NA 11398101, 14570705 Standard NM_033056 NM_033056 NA Approved CDHR15 uc010qhy.1 Q96QU1 OTTHUMG00000018259 ENST00000361849.3:c.5275T>C chr10.hg19:g.55582217A>G ENSP00000354950:p.Ser1759Pro NA A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8 hg19 CCDS44404.1 0.02 -0.368281 GAGxAGG COVERED . . . . . . . . . . A 8.135 0.783929 0.16189 . . ENSG00000150275 ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009 T;T;T;T;T;T 0.58358 0.37;0.34;0.39;0.34;0.34;0.34 3.63 -5.49 0.02584 . . . . . T 0.26011 0.0634 N 0.19112 0.55 0.09310 N 1 B;B;B;B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0 B;B;B;B;B;B;B;B 0.01281 0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0 T 0.15263 -1.0443 9 0.25751 T 0.34 . 0.6655 0.00849 0.2639:0.1291:0.3441:0.263 . 1734;1757;1759;1764;1688;1717;1754;1757 A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1 .;.;.;.;.;.;.;PCD15_HUMAN P 1717;1759;1734;1757;1754;1764;1688 ENSP00000378820:S1717P;ENSP00000354950:S1759P;ENSP00000378821:S1734P;ENSP00000322604:S1757P;ENSP00000378818:S1754P;ENSP00000412628:S1688P ENSP00000322604:S1757P S - 1 0 PCDH15 55252223 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.495000 0.06443 -1.191000 0.02695 -1.556000 0.00890 TCT NOVEL PCDH15-011 NOVEL not_organism_supported|basic|CCDS protein_coding NA protein_coding OTTHUMT00000291338.1 3 3.310309 KEEP 0 0 0 11 354 AA 0.993072 0.893084 0 - 3 60 96 0 1 6.442475 36 60 1029 79 ENST00000361849.3 0.076923 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 57753876 57753876 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:57753876T>C NA NA PCDH15 (366174 upstream) : ZWINT (363112 downstream) NA NA NA ggattacaggtgtgagccacc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.57753876T>C NA hg19 0.02 -0.140001 AGGxGTG COVERED NOVEL 0 5 2.406992 KEEP 0 0 0 8 248 TT 0.99257 0.259026 0 3 60 101 0 0 8.182657 13 60 362 32 0.1875 0.260965 TFAM 7019 __UNKNOWN__ __UNKNOWN__ 10 60157794 60157794 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:60157794T>C ENST00000487519.1 + 0 4227 NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial NA NA DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 gctgggattataggtgtgagc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018628 CCDS7253.1, CCDS59217.1 10q21 2010-09-24 ENSG00000108064 ENSG00000108064 7019 11741 protein-coding gene gene with protein product 600438 TCF6, TCF6L2 NA 7789991 Standard NM_003201 NM_003201 NA Approved uc001jkf.4 Q00059 OTTHUMG00000018270 ENST00000487519.1:c.*2960T>C chr10.hg19:g.60157794T>C NA A8MRB2|A9QXC6|B5BU05|Q5U0C6 hg19 CCDS7253.1 0.02 5.797858 TTAxAGG COVERED NOVEL TFAM-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048146.1 46 13.210299 KEEP 0 2 75 70 2155 TT 1 1 0 + 7 60 246 0 0 15.921478 131 60 3705 305 ENST00000487519.1 0.050725 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 60751323 60751323 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:60751323A>G NA NA RN7SKP196 (122035 upstream) : LINC00844 (8062 downstream) NA NA NA tcctgacctcatgatccgcct 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.60751323A>G NA hg19 0.02 -0.377094 CTCxTGA COVERED NOVEL 0 8 4.814264 KEEP 6 0 0 16 493 AA 0.99649 0.905878 0 4 60 113 0 1 7.523441 37 60 1095 71 0.097561 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 63104806 63104806 __UNKNOWN__ IGR SNP C C T rs567152857 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:63104806C>T NA NA LINC00845 (318628 upstream) : TMEM26 (61598 downstream) NA NA NA tttgggaggccgaggtgggca 0.493 NA C||| 1 0.000199681 0 0 5008 , , NA 14687 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.63104806C>T NA hg19 0.02 -0.157869 GGCxGAG COVERED NOVEL 0 8 3.009663 KEEP 0 0 0 10 348 CC 0.992708 0.320453 0 3 60 88 0 0 6.879319 13 60 404 37 0.1875 0.322807 EGR2 1959 __UNKNOWN__ __UNKNOWN__ 10 64572447 64572447 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:64572447C>T ENST00000242480.3 - 0 2276 EGR2_ENST00000439032.1_3'UTR|EGR2_ENST00000411732.1_3'UTR NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 NA NA brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) CAGAGTGTGGCATAAAGGCTA 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC035625 CCDS7267.1, CCDS44409.1 10q21.1 2014-09-17 2009-04-23 ENSG00000122877 ENSG00000122877 1959 Zinc fingers, C2H2-type 3239 protein-coding gene gene with protein product Krox-20 homolog, Drosophila 129010 early growth response 2 (Krox-20 homolog, Drosophila) KROX20 NA Standard NM_000399 NM_000399 NA Approved uc001jmi.3 P11161 OTTHUMG00000018308 ENST00000242480.3:c.*520G>A chr10.hg19:g.64572447C>T NA B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6 hg19 CCDS7267.1 0.02 0.97455 TGGxATA COVERED NOVEL EGR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048245.2 6 16.55369 KEEP 0 0 0 55 1960 CC 1 0.997163 0 - 5 60 131 0 0 7.685036 65 60 2193 176 ENST00000242480.3 0.071429 0.997163 JMJD1C 221037 __UNKNOWN__ __UNKNOWN__ 10 64944224 64944224 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:64944224A>G ENST00000399262.2 - 21 7180 JMJD1C_ENST00000542921.1_Intron|JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_Intron NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C NA NA blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ggatggtctcaatctcctgac 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037 12313 protein-coding gene gene with protein product 604503 thyroid hormone receptor interactor 8 TRIP8 NA 7776974 Standard NM_004241 XM_005269624 NA Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.6961+143T>C chr10.hg19:g.64944224A>G NA A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 hg19 CCDS41532.1 0.02 -0.245594 CTCxATC COVERED NOVEL JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048249.2 3 2.683215 KEEP 1 1 8 12 371 AA 0.994391 0.63775 0 - 3 60 90 0 0 6.395622 23 60 706 46 ENST00000399262.2 0.115385 0.641347 JMJD1C 221037 __UNKNOWN__ __UNKNOWN__ 10 64961773 64961773 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:64961773A>G ENST00000399262.2 - 11 5293 JMJD1C_ENST00000542921.1_Intron|JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_Intron NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C NA NA blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ccagaactttaggaggctgag 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037 12313 protein-coding gene gene with protein product 604503 thyroid hormone receptor interactor 8 TRIP8 NA 7776974 Standard NM_004241 XM_005269624 NA Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.5075-1336T>C chr10.hg19:g.64961773A>G NA A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 hg19 CCDS41532.1 0.02 -0.149076 TTTxGGA COVERED NOVEL JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048249.2 4 2.407416 KEEP 0 0 0 8 254 AA 0.99257 0.289832 0 - 3 60 94 0 0 7.673361 11 60 308 31 ENST00000399262.2 0.214286 0.292001 JMJD1C 221037 __UNKNOWN__ __UNKNOWN__ 10 65163437 65163437 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:65163437A>G ENST00000399262.2 - 2 387 JMJD1C_ENST00000399251.1_Intron NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C NA NA blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) agtggctcacacctgtaatcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037 12313 protein-coding gene gene with protein product 604503 thyroid hormone receptor interactor 8 TRIP8 NA 7776974 Standard NM_004241 XM_005269624 NA Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.169-23195T>C chr10.hg19:g.65163437A>G NA A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 hg19 CCDS41532.1 0.02 -0.245515 CACxCCT COVERED NOVEL JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048249.2 6 2.407055 KEEP 1 0 0 8 247 AA 0.99257 0.636582 0 - 3 60 102 0 0 7.594927 23 60 671 56 ENST00000399262.2 0.115385 0.641347 JMJD1C 221037 __UNKNOWN__ __UNKNOWN__ 10 65163450 65163450 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:65163450C>G ENST00000399262.2 - 2 387 JMJD1C_ENST00000399251.1_Intron NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C NA NA blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) tgtaatcccaccactttggga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037 12313 protein-coding gene gene with protein product 604503 thyroid hormone receptor interactor 8 TRIP8 NA 7776974 Standard NM_004241 XM_005269624 NA Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.169-23208G>C chr10.hg19:g.65163450C>G NA A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 hg19 CCDS41532.1 0.02 -0.245639 CCAxCAC COVERED NOVEL JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048249.2 8 2.407909 KEEP 2 0 0 8 286 CC 0.99257 0.663556 0 - 4 60 144 0 0 11.535396 21 60 717 55 ENST00000399262.2 0.16 0.668523 JMJD1C 221037 __UNKNOWN__ __UNKNOWN__ 10 65163465 65163465 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:65163465A>G ENST00000399262.2 - 2 387 JMJD1C_ENST00000399251.1_Intron NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C NA NA blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ttgggaggccaaggcaggcgg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037 12313 protein-coding gene gene with protein product 604503 thyroid hormone receptor interactor 8 TRIP8 NA 7776974 Standard NM_004241 XM_005269624 NA Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.169-23223T>C chr10.hg19:g.65163465A>G NA A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 hg19 CCDS41532.1 0.02 -0.245555 GCCxAGG COVERED NOVEL JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048249.2 6 2.407278 KEEP 1 0 0 8 251 AA 0.99257 0.636582 0 - 3 60 90 0 0 6.451207 22 60 654 51 ENST00000399262.2 0.12 0.641347 REEP3 221035 __UNKNOWN__ __UNKNOWN__ 10 65309079 65309079 __UNKNOWN__ Intron SNP A A G rs549462790 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:65309079A>G ENST00000298249.4 + 2 215 REEP3_ENST00000373758.4_Intron Q6NUK4 REEP3_HUMAN receptor accessory protein 3 NA NA mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874) endometrium(1)|large_intestine(2)|lung(3) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) tgtaatcccaacactttcgga 0.478 NA A||| 1 0.000199681 8e-04 0 5008 , , NA 20345 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC057832 CCDS44411.1 10q21.3 2011-01-05 2006-02-07 2006-02-07 ENSG00000165476 ENSG00000165476 221035 Receptor accessory proteins 23711 protein-coding gene gene with protein product 609348 chromosome 10 open reading frame 74 C10orf74 NA 16271481, 15550249 Standard NM_001001330 NM_001001330 NA Approved uc001jmt.3 Q6NUK4 OTTHUMG00000018318 ENST00000298249.4:c.-13-17019A>G chr10.hg19:g.65309079A>G NA Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4 hg19 0.02 -0.201718 CCAxCAC COVERED NOVEL REEP3-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000048263.3 9 3.912418 KEEP 4 0 0 13 432 AA 0.992708 0.486967 0 + 3 60 104 0 0 8.16078 17 60 501 53 ENST00000298249.4 0.15 0.490544 MYPN 84665 __UNKNOWN__ __UNKNOWN__ 10 69921816 69921816 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:69921816C>T ENST00000358913.5 + 8 1971 MYPN_ENST00000540630.1_Intron|MYPN_ENST00000373675.3_3'UTR|MYPN_ENST00000354393.2_Intron NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin NA NA sarcomere organization (GO:0045214) I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018) cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 tcccagctacctgggaggctg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834247 CCDS7275.1, CCDS73142.1 10q22.1 2014-09-17 ENSG00000138347 ENSG00000138347 84665 Immunoglobulin superfamily / I-set domain containing 23246 protein-coding gene gene with protein product sarcomeric protein myopalladin, 145 kDa 608517 NA 11309420, 12482578 Standard NM_032578 NM_032578 NA Approved MYOP uc001jnm.5 Q86TC9 OTTHUMG00000018344 ENST00000358913.5:c.1483+307C>T chr10.hg19:g.69921816C>T NA Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5 hg19 CCDS7275.1 0.02 1.120308 TACxTGG COVERED NOVEL MYPN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048307.1 10 3.681054 KEEP 0 2 65 35 1183 CC 1 0.999768 0 + 7 60 176 0 0 10.544488 76 60 2492 145 ENST00000358913.5 0.084337 0.999768 PBLD 64081 __UNKNOWN__ __UNKNOWN__ 10 70047545 70047545 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:70047545A>G ENST00000358769.2 - 8 894 PBLD_ENST00000336578.1_Intron|PBLD_ENST00000309049.4_Intron|PBLD_ENST00000432941.1_Intron|PBLD_ENST00000495025.2_Intron NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing NA NA biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) isomerase activity (GO:0016853) endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 Agctaggcgcagtggctcatg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027673 CCDS7277.2, CCDS44413.1 10q21.3 2006-11-27 ENSG00000108187 ENSG00000108187 64081 23301 protein-coding gene gene with protein product MAWD binding protein 612189 NA 11355021 Standard NM_022129 XM_005270028 NA Approved MAWBP, MAWDBP, FLJ14767 uc001jns.1 P30039 OTTHUMG00000073949 ENST00000358769.2:c.691+694T>C chr10.hg19:g.70047545A>G NA A8MZJ3|C9JIM0|Q9HCC2 hg19 CCDS7277.2 0.02 -0.385644 CGCxGTG COVERED NOVEL PBLD-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048314.1 3 3.611014 KEEP 0 0 0 12 376 AA 0.993634 0.912325 0 - 3 60 102 0 0 6.941041 39 60 1137 76 ENST00000358769.2 0.071429 0.918171 RUFY2 55680 __UNKNOWN__ __UNKNOWN__ 10 70139328 70139328 __UNKNOWN__ Intron SNP T T G rs373005572 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:70139328T>G ENST00000602465.1 - 12 1208 RUFY2_ENST00000472394.2_Intron|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000388768.2_Intron|RUFY2_ENST00000399200.2_Intron Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 NA NA nucleus (GO:0005634) metal ion binding (GO:0046872) NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 gtgtgtgtgtttgtgtgtgtg 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 32 32 32 NA NA NA 10 NA NA 70139328 1857 4102 5959 SO:0001627 intron_variant AF461266 CCDS41534.1, CCDS44414.1, CCDS60544.1 10q22.2 2007-01-29 ENSG00000204130 ENSG00000204130 55680 Zinc fingers, FYVE domain containing 19761 protein-coding gene gene with protein product 610328 NA 11877430 Standard NM_017987 NM_001042417 NA Approved RABIP4R, FLJ10063, KIAA1537, ZFYVE13 uc001job.3 Q8WXA3 OTTHUMG00000018353 ENST00000602465.1:c.1108-50A>C chr10.hg19:g.70139328T>G NA B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1 hg19 0.02 -0.341855 TGTxTGT COVERED NOVEL RUFY2-010 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000467567.1 4 4.513773 KEEP 0 0 0 15 479 TT 0.99649 0.862707 0 - 7 60 216 0 0 17.242609 29 60 826 58 ENST00000602465.1 0.194444 0.865745 TET1 80312 __UNKNOWN__ __UNKNOWN__ 10 70376729 70376729 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:70376729C>G ENST00000373644.4 + 3 2177 NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 NA NA chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ctcccaaagtcctgggattac 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF430147 CCDS7281.1 10q21 2014-02-18 2011-09-30 2008-03-12 ENSG00000138336 ENSG00000138336 80312 29484 protein-coding gene gene with protein product leukemia-associated protein with a CXXC domain, ten-eleven translocation-1 607790 CXXC zinc finger 6, tet oncogene 1 CXXC6 NA 12124344, 12646957 Standard NM_030625 NM_030625 NA Approved LCX, KIAA1676, bA119F7.1 uc001jok.4 Q8NFU7 OTTHUMG00000018359 ENST00000373644.4:c.1968+15938C>G chr10.hg19:g.70376729C>G NA Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7 hg19 CCDS7281.1 0.02 -0.157896 AGTxCTG COVERED NOVEL TET1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048354.1 7 2.407387 KEEP 1 0 0 8 265 CC 0.99257 0.320408 0 + 3 28 94 0 0 7.478838 13 60 421 32 ENST00000373644.4 0.1875 0.322807 CCAR1 55749 __UNKNOWN__ __UNKNOWN__ 10 70546686 70546686 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:70546686G>A ENST00000265872.6 + 21 2999 CCAR1_ENST00000535016.1_Intron|CCAR1_ENST00000543719.1_Intron NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 tactaaaaatgcaaaaattag 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY249140 CCDS7282.1, CCDS60547.1 10q22.1 2004-02-19 ENSG00000060339 ENSG00000060339 55749 24236 protein-coding gene gene with protein product 612569 NA 12816952 Standard NM_018237 NM_018237 NA Approved FLJ10590, CARP-1, CARP1 uc001joo.3 Q8IX12 OTTHUMG00000018361 ENST00000265872.6:c.2880+237G>A chr10.hg19:g.70546686G>A NA A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6 hg19 CCDS7282.1 0.02 -0.017535 AATxCAA UNCOVERED NOVEL CCAR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048356.2 2 2.709011 KEEP 1 0 0 9 334 GG 0.99254 0 0 + 2 47 54 0 0 6.35232 0 0 0 14 ENST00000265872.6 1 0 STOX1 219736 __UNKNOWN__ __UNKNOWN__ 10 70610721 70610721 __UNKNOWN__ Intron SNP G G C rs561972432 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:70610721G>C ENST00000298596.6 + 1 393 STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Intron|STOX1_ENST00000421961.2_Intron|STOX1_ENST00000399165.4_Intron NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 NA NA cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 gagcgagaccgtgtctcaaga 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057891 CCDS41535.1, CCDS44416.1, CCDS44417.1 10q22.1 2005-11-29 2005-04-04 2005-04-04 ENSG00000165730 ENSG00000165730 219736 23508 protein-coding gene gene with protein product 609397 chromosome 10 open reading frame 24 C10orf24 NA Standard NM_152709 NM_152709 NA Approved FLJ25162 uc001joq.3 Q6ZVD7 OTTHUMG00000018367 ENST00000298596.6:c.310+23031G>C chr10.hg19:g.70610721G>C NA A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0 hg19 CCDS41535.1 0.02 -0.280668 ACCxTGT COVERED NOVEL STOX1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276849.3 9 2.40763 KEEP 0 0 0 8 276 GG 0.99257 0.734176 0 + 3 60 109 0 0 8.052056 28 60 888 56 ENST00000298596.6 0.096774 0.739671 DDX50 79009 __UNKNOWN__ __UNKNOWN__ 10 70695991 70695991 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:70695991T>C ENST00000373585.3 + 11 1702 DDX50_ENST00000466265.1_Intron NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 NA NA membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 tgcctgtaattccagcacttt 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF334103 CCDS7283.1 10q22.2 2010-09-30 ENSG00000107625 ENSG00000107625 79009 DEAD-boxes 17906 protein-coding gene gene with protein product 610373 NA 11891046 Standard NM_024045 NM_024045 NA Approved GU2, MGC3199, GUB, RH-II/GuB uc001jou.3 Q9BQ39 OTTHUMG00000018362 ENST00000373585.3:c.1595+156T>C chr10.hg19:g.70695991T>C NA Q5VX37|Q8WV76|Q9BWI8 hg19 CCDS7283.1 0.02 -0.42096 AATxCCA COVERED NOVEL DDX50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048363.1 7 2.476729 KEEP 1 2 65 31 984 TT 0.999998 0.9484 0 + 5 60 167 0 0 12.430062 37 60 1084 93 ENST00000373585.3 0.119048 0.948402 DDX21 9188 __UNKNOWN__ __UNKNOWN__ 10 70723836 70723836 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:70723836T>C ENST00000354185.4 + 4 884 NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 NA NA ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615) membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 gcctgggcgatagagcaagac 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U41387 CCDS31211.1, CCDS73144.1 10q21 2013-05-13 2012-02-23 ENSG00000165732 ENSG00000165732 9188 DEAD-boxes 2744 protein-coding gene gene with protein product 606357 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21, DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 NA 8614622, 18180292 Standard NM_004728 NM_004728 NA Approved RH-II/GU, GURDB uc001jov.2 Q9NR30 OTTHUMG00000018366 ENST00000354185.4:c.786+611T>C chr10.hg19:g.70723836T>C NA B2RDL0|Q13436|Q5VX41|Q68D35 hg19 CCDS31211.1 0.02 1.687115 CGAxAGA COVERED NOVEL DDX21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048374.1 3 5.683234 KEEP 1 2 60 40 1192 TT 1 0.999317 0 + 8 60 266 1 1 19.672997 61 60 1677 144 ENST00000354185.4 0.115942 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 70777257 70777257 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:70777257T>C NA NA KIAA1279 (519 upstream) : SRGN (70604 downstream) NA NA NA tttgggaggctgaggtaggag 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.70777257T>C NA hg19 0.02 -0.280451 GGCxGAG COVERED NOVEL 0 12 2.407527 KEEP 4 0 0 8 258 TT 0.99257 0.734176 0 3 60 94 0 0 6.646393 26 60 753 60 0.103448 0.739671 HK1 3098 __UNKNOWN__ __UNKNOWN__ 10 71048597 71048597 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:71048597T>C ENST00000448642.2 + 4 416 HK1_ENST00000360289.2_Intron|HK1_ENST00000404387.2_Intron P19367 HXK1_HUMAN hexokinase 1 NA NA carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 ggctggagtgtagtggcgcga 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 16 20 19 NA NA NA 10 NA NA 71048597 692 1591 2283 SO:0001627 intron_variant M75126 CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1 10q22 2014-09-17 ENSG00000156515 ENSG00000156515 3098 2.7.1.1 4922 protein-coding gene gene with protein product 142600 NA Standard NM_000188 NM_033496 NA Approved uc001jpi.4 P19367 OTTHUMG00000018380 ENST00000448642.2:c.27+71T>C chr10.hg19:g.71048597T>C NA E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5 hg19 0.02 3.798741 GTGxAGT COVERED NOVEL HK1-204 KNOWN basic protein_coding NA protein_coding 15 5.281218 KEEP 0 2 73 43 1279 TT 1 0.999999 0 + 13 60 445 0 0 33.812486 89 60 2481 213 ENST00000448642.2 0.127451 0.999999 TYSND1 219743 __UNKNOWN__ __UNKNOWN__ 10 71898617 71898617 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:71898617A>G ENST00000287078.6 - 0 2763 TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 NA NA protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998) membrane (GO:0016020)|peroxisome (GO:0005777) identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252) endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 cactttgggaagctgaggcag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC016840 CCDS31213.1, CCDS31214.1 10q22.1 2009-11-06 2006-09-21 ENSG00000156521 ENSG00000156521 219743 28531 protein-coding gene gene with protein product 611017 NA 17255948 Standard NM_173555 NM_173555 NA Approved MGC34695, NET41 uc001jqr.4 Q2T9J0 OTTHUMG00000018397 ENST00000287078.6:c.*1063T>C chr10.hg19:g.71898617A>G NA Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5 hg19 CCDS31213.1 0.02 9.555129 GGAxGCT COVERED NOVEL TYSND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048483.1 50 27.392638 KEEP 0 3 112 130 4227 AA 1 1 0 - 10 60 344 1 0 20.760495 251 60 7644 615 ENST00000287078.6 0.038314 1 SAR1A 56681 __UNKNOWN__ __UNKNOWN__ 10 71920966 71920966 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:71920966T>C ENST00000373242.2 - 5 375 SAR1A_ENST00000373241.4_Intron|SAR1A_ENST00000458634.2_Intron|SAR1A_ENST00000373236.1_Intron|SAR1A_ENST00000431664.2_Intron|SAR1A_ENST00000373238.1_Intron NM_001142648.1 NP_001136120.1 Q9NR31 SAR1A_HUMAN secretion associated, Ras related GTPase 1A NA NA intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529) GTP binding (GO:0005525) NS(1)|endometrium(1)|large_intestine(1)|lung(3) 6 cgcctgtagttccagctactc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7298.1 10q22.1 2014-03-07 2014-03-07 2005-10-21 ENSG00000079332 ENSG00000079332 56681 10534 protein-coding gene gene with protein product 607691 SAR1a gene homolog (S. cerevisiae) 1, SAR1a gene homolog 1 (S. cerevisiae), SAR1 homolog A (S. cerevisiae) SARA1 NA 10871277 Standard NM_020150 NA Approved SAR1, Sara uc010qji.2 Q9NR31 OTTHUMG00000018400 ENST00000373242.2:c.179-141A>G chr10.hg19:g.71920966T>C NA B4DQ19 hg19 CCDS7298.1 0.02 -0.236724 AGTxCCA COVERED NOVEL SAR1A-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048500.2 4 2.708603 KEEP 0 0 0 9 299 TT 0.99254 0.607839 0 - 3 60 102 0 0 7.649429 22 60 600 41 ENST00000373242.2 0.12 0.612407 PPA1 5464 __UNKNOWN__ __UNKNOWN__ 10 71979938 71979938 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:71979938A>G ENST00000373232.3 - 3 223 PPA1_ENST00000495346.1_Intron|PPA1_ENST00000608321.1_Intron NM_021129.3 NP_066952.1 Q15181 IPYR_HUMAN pyrophosphatase (inorganic) 1 NA NA diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287) breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2) 10 cacccgcctcagcctcccaaa 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF154065 CCDS7299.1 10q11.1-q24 2012-10-02 2005-10-07 2005-10-07 ENSG00000180817 ENSG00000180817 5464 3.6.1.1 9226 protein-coding gene gene with protein product cytosolic inorganic pyrophosphatase, inorganic pyrophosphatase 1, pyrophosphate phospho-hydrolase 179030 pyrophosphatase (inorganic) PP NA 10542310, 975879 Standard NM_021129 NM_021129 NA Approved SID6-8061, Ppase, IOPPP, PP1 uc001jqv.1 Q15181 OTTHUMG00000018399 ENST00000373232.3:c.124-1365T>C chr10.hg19:g.71979938A>G NA Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1 hg19 CCDS7299.1 0.02 -0.210474 CTCxGCC COVERED NOVEL PPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048490.2 12 2.407223 KEEP 6 0 0 8 254 AA 0.99257 0.518282 0 - 3 60 95 0 0 7.333752 16 60 476 50 ENST00000373232.3 0.157895 0.522161 UNC5B 219699 __UNKNOWN__ __UNKNOWN__ 10 72987000 72987000 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:72987000T>C ENST00000335350.6 + 1 495 UNC5B_ENST00000373192.4_Intron NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) NA NA anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 cctcagcctctcaaagtgctg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB096256 CCDS7309.1, CCDS58083.1 10q22.2 2013-01-11 2001-11-28 ENSG00000107731 ENSG00000107731 219699 Immunoglobulin superfamily / I-set domain containing 12568 protein-coding gene gene with protein product 607870 unc5 (C.elegans homolog) b NA Standard NM_170744 NM_170744 NA Approved UNC5H2, p53RDL1 uc001jro.3 Q8IZJ1 OTTHUMG00000018422 ENST00000335350.6:c.79+14179T>C chr10.hg19:g.72987000T>C NA Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3 hg19 CCDS7309.1 0.02 -0.201741 CTCxCAA COVERED NOVEL UNC5B-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048541.1 5 2.407178 KEEP 2 0 0 8 250 TT 0.99257 0.4869 0 + 3 60 103 0 0 7.926712 19 60 580 46 ENST00000335350.6 0.136364 0.490544 CDH23 64072 __UNKNOWN__ __UNKNOWN__ 10 73545249 73545249 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:73545249C>T ENST00000224721.6 + 43 5732 NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 NA NA calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420) calcium ion binding (GO:0005509) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCGGCGAGACCCTGCCGACCC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY010111 CCDS53540.1, CCDS73146.1 10q22.1 2014-08-08 2010-01-25 ENSG00000107736 ENSG00000107736 64072 Cadherins / Cadherin-related 13733 protein-coding gene gene with protein product cadherin-related family member 23 605516 cadherin related 23, cadherin-like 23 DFNB12, USH1D NA 11090341 Standard NM_052836 NM_022124 NA Approved CDHR23 uc001jrx.4 Q9H251 OTTHUMG00000019347 ENST00000224721.6:c.5728-139C>T chr10.hg19:g.73545249C>T NA C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9 hg19 0.02 1.018476 GACxCTG COVERED NOVEL CDH23-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000051227.4 4 10.533764 KEEP 0 0 0 35 1223 CC 0.999999 0.994421 0 + 6 60 163 0 0 10.44379 60 60 1988 122 ENST00000224721.6 0.090909 0.994422 PSAP 5660 __UNKNOWN__ __UNKNOWN__ 10 73609548 73609548 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:73609548A>G ENST00000394936.3 - 1 188 PSAP_ENST00000394934.1_Intron P07602 SAP_HUMAN prosaposin NA NA blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739) enzyme activator activity (GO:0008047)|lipid binding (GO:0008289) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 ttacaggcataagccaccgca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004275 CCDS7311.1 10q21-q22 2014-01-30 2008-07-31 ENSG00000197746 ENSG00000197746 5660 Endogenous ligands 9498 protein-coding gene gene with protein product variant Gaucher disease and variant metachromatic leukodystrophy 176801 sphingolipid activator protein-1 SAP1, GLBA NA 2717620 Standard NM_002778 NM_001042465 NA Approved uc001jsm.3 P07602 OTTHUMG00000018429 ENST00000394936.3:c.40+1390T>C chr10.hg19:g.73609548A>G NA P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742 hg19 CCDS7311.1 0.02 -0.149036 CATxAGC COVERED NOVEL PSAP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000048553.1 3 2.407135 KEEP 0 0 0 8 243 AA 0.99257 0.289832 0 - 3 60 99 0 0 7.89252 14 60 379 33 ENST00000394936.3 0.176471 0.292001 CHST3 9469 __UNKNOWN__ __UNKNOWN__ 10 73772198 73772198 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:73772198A>G ENST00000373115.4 + 0 5846 NM_004273.4 NP_004264.2 Q7LGC8 CHST3_HUMAN carbohydrate (chondroitin 6) sulfotransferase 3 NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146) endometrium(1)|lung(5) 6 cttgagcccaagagttggaga 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB017915 CCDS7312.1 10q22.1 2007-03-14 ENSG00000122863 ENSG00000122863 9469 Sulfotransferases, membrane-bound 1971 protein-coding gene gene with protein product 603799 NA 9883891, 9714738 Standard NM_004273 NM_004273 NA Approved C6ST, C6ST1 uc001jsn.3 Q7LGC8 OTTHUMG00000018431 ENST00000373115.4:c.*3969A>G chr10.hg19:g.73772198A>G NA O75099|Q52M30 hg19 CCDS7312.1 0.02 1.906414 CCAxGAG COVERED NOVEL CHST3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048563.1 7 11.134885 KEEP 0 0 0 37 1211 AA 1 0.976865 0 + 4 60 128 0 0 8.625279 47 60 1380 126 ENST00000373115.4 0.078431 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 73782615 73782615 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:73782615A>G NA NA CHST3 (9293 upstream) : RP11-150D20.5 (30436 downstream) NA NA NA gagccaccgcacctggcccag 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.73782615A>G NA hg19 0.02 -0.254078 CGCxCCT COVERED NOVEL 0 10 3.306886 KEEP 0 0 0 11 324 AA 0.993634 0.664267 0 3 60 102 0 0 7.493841 25 60 676 55 0.107143 0.668523 ASCC1 51008 __UNKNOWN__ __UNKNOWN__ 10 73932000 73932000 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:73932000C>T ENST00000394919.1 - 6 677 ASCC1_ENST00000545550.1_Intron|ASCC1_ENST00000317168.6_Intron|ASCC1_ENST00000394915.3_Intron|ASCC1_ENST00000342444.4_Intron|ASCC1_ENST00000317126.4_Intron NM_001198798.2 NP_001185727.1 Q8N9N2 ASCC1_HUMAN activating signal cointegrator 1 complex subunit 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|transcription factor complex (GO:0005667) catalytic activity (GO:0003824)|RNA binding (GO:0003723) endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 7 ggtgaaaccccgtctctacta 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY013290 CCDS31219.1, CCDS55713.1 10q22.1 2012-09-20 ENSG00000138303 ENSG00000138303 51008 24268 protein-coding gene gene with protein product 614215 NA 10810093, 12077347 Standard NM_015947 NM_001198799 NA Approved CGI-18, ASC1p50, Em:AC022392.3 uc001jst.2 Q8N9N2 OTTHUMG00000018434 ENST00000394919.1:c.490-10568G>A chr10.hg19:g.73932000C>T NA Q5SW06|Q5SW07|Q96EI8|Q9Y307 hg19 CCDS31219.1 0.02 -0.306963 CCCxGTC COVERED NOVEL ASCC1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384352.1 23 3.549302 KEEP 14 0 0 12 373 CC 0.993634 0.813254 0 - 6 49 174 1 0 14.053239 21 60 640 81 ENST00000394919.1 0.222222 0.818465 OIT3 170392 __UNKNOWN__ __UNKNOWN__ 10 74673203 74673203 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:74673203A>G ENST00000334011.5 + 6 1146 c.928A>G c.(928-930)Aag>Gag p.K310E NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 310 ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}. NA nucleus (GO:0005634) calcium ion binding (GO:0005509) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) CTTCTCTCTCAAGACATGTGG 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(7;19 345 13446 17537) NA 0 122 100 108 NA NA NA 10 NA NA 74673203 2203 4300 6503 SO:0001583 missense CCDS7318.1 10q22.2-q22.3 2004-04-21 ENSG00000138315 ENSG00000138315 170392 29953 protein-coding gene gene with protein product 609330 NA 12975309, 12939600 Standard NM_152635 NM_152635 NA Approved LZP, FLJ39116 uc001jte.1 Q8WWZ8 OTTHUMG00000018444 ENST00000334011.5:c.928A>G chr10.hg19:g.74673203A>G ENSP00000333900:p.Lys310Glu NA A0AVP3|Q8N1M8 hg19 CCDS7318.1 0.02 1.771732 CTCxAGA COVERED . . . . . . . . . . A 32 5.108748 0.94292 . . ENSG00000138315 ENST00000334011;ENST00000415725 D 0.81579 -1.51 5.95 5.95 0.96441 Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3); 0.000000 0.64402 D 0.000010 D 0.83672 0.5305 L 0.57536 1.79 0.80722 D 1 D 0.63046 0.992 P 0.57911 0.829 T 0.80074 -0.1534 10 0.06625 T 0.88 -34.1407 16.4237 0.83790 1.0:0.0:0.0:0.0 . 310 Q8WWZ8 OIT3_HUMAN E 310 ENSP00000333900:K310E ENSP00000333900:K310E K + 1 0 OIT3 74343209 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 8.983000 0.93477 2.279000 0.76181 0.533000 0.62120 AAG NOVEL OIT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048596.1 0 14.134993 KEEP 0 0 0 47 1355 AA 1 0.986153 0 + 11 60 349 0 0 27.828728 48 60 1322 133 ENST00000334011.5 0.186441 0.986153 P4HA1 5033 __UNKNOWN__ __UNKNOWN__ 10 74819230 74819230 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:74819230A>G ENST00000373008.2 - 6 580 P4HA1_ENST00000394890.2_Intron|P4HA1_ENST00000412021.2_Intron|P4HA1_ENST00000440381.1_Intron|P4HA1_ENST00000263556.3_Intron|P4HA1_ENST00000307116.2_Intron P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I NA NA collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401) endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ggctgggcgcagtggctcacg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(147;367 2405 2662 52127) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7320.1, CCDS41537.1, CCDS44432.1 10q21.3-q23.1 2008-12-09 2008-12-09 ENSG00000122884 ENSG00000122884 5033 1.14.11.2 8546 protein-coding gene gene with protein product collagen prolyl 4-hydroxylase alpha(I) 176710 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I P4HA NA 2556027 Standard NM_000917 NM_001017962 NA Approved C-P4Halpha(I) uc001jtg.3 P13674 OTTHUMG00000018449 ENST00000373008.2:c.464-5882T>C chr10.hg19:g.74819230A>G NA C9JL12|Q15082|Q15083|Q5VSQ5 hg19 0.02 -0.131552 CGCxGTG UNCOVERED NOVEL P4HA1-002 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000048602.1 15 3.008354 KEEP 14 0 0 10 301 AA 0 0 0 - 3 40 91 0 0 7.601285 9 60 267 42 ENST00000373008.2 0.25 0.229173 MRPS16 51021 __UNKNOWN__ __UNKNOWN__ 10 75008945 75008945 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:75008945A>G ENST00000372945.3 - 0 2289 DNAJC9-AS1_ENST00000440197.2_RNA|DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000416782.2_Intron|MRPS16_ENST00000479005.1_5'UTR|MRPS16_ENST00000372940.3_3'UTR NM_016065.3 NP_057149.1 Q9Y3D3 RT16_HUMAN mitochondrial ribosomal protein S16 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763) structural constituent of ribosome (GO:0003735) large_intestine(2)|lung(2) 4 Prostate(51;0.0119) caaagtgctgagattacaggt 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051351 CCDS7323.1 10q22.1 2012-09-13 ENSG00000182180 ENSG00000182180 51021 Mitochondrial ribosomal proteins / small subunits 14048 protein-coding gene gene with protein product 609204 NA 10810093 Standard NM_016065 NA Approved CGI-132 uc001jts.1 Q9Y3D3 OTTHUMG00000018454 ENST00000372945.3:c.*1665T>C chr10.hg19:g.75008945A>G NA B4E032|Q96Q60 hg19 CCDS7323.1 0.02 5.792021 CTGxGAT COVERED NOVEL MRPS16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048616.1 28 14.851238 KEEP 3 3 108 87 2800 AA 1 1 0 - 11 60 361 0 0 23.965709 149 60 4510 340 ENST00000372945.3 0.06875 1 ZSWIM8 23053 __UNKNOWN__ __UNKNOWN__ 10 75556093 75556093 __UNKNOWN__ Intron SNP C C T rs557250925 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:75556093C>T ENST00000605216.1 + 16 3235 ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000398706.2_Intron NM_001242487.1 NP_001229416.1 A7E2V4 ZSWM8_HUMAN zinc finger, SWIM-type containing 8 NA NA zinc ion binding (GO:0008270) NA ggcaacagagcgagaccctgt 0.468 NA C||| 5 0.000998403 0 0.0058 5008 , , NA 16722 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC151206, BC040726 CCDS44440.1, CCDS60560.1 10q22.3 2012-11-02 2012-11-02 2012-11-02 ENSG00000214655 ENSG00000214655 23053 Zinc fingers, SWIM-type 23528 protein-coding gene gene with protein product KIAA0913 KIAA0913 NA Standard NM_001242487 NM_015037 NA Approved 4832404P21Rik uc001jvj.3 A7E2V4 OTTHUMG00000018486 ENST00000605216.1:c.3019-439C>T chr10.hg19:g.75556093C>T NA B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3 hg19 0.02 1.347658 GAGxGAG COVERED . . . . . . . . . . C 11.39 1.624416 0.28889 . . ENSG00000214655 ENST00000425051 . . . 0.225 0.225 0.15325 . . . . . T 0.57592 0.2064 . . . 0.58432 D 0.999998 . . . . . . T 0.53521 -0.8427 3 . . . . . . . . . . . V 190 . . A + 2 0 KIAA0913 75226099 0.007000 0.16637 0.928000 0.36995 0.980000 0.70556 0.545000 0.23268 0.300000 0.22699 0.305000 0.20034 GCG NOVEL ZSWIM8-012 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000468545.1 7 4.480169 KEEP 1 0 0 15 505 CC 0.99649 0.960391 0 + 5 60 132 0 0 8.795362 40 60 1263 91 ENST00000605216.1 0.111111 0.963774 ZSWIM8 23053 __UNKNOWN__ __UNKNOWN__ 10 75559448 75559448 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:75559448A>G ENST00000605216.1 + 21 4867 ZSWIM8_ENST00000603114.1_Intron|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000398706.2_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA NM_001242487.1 NP_001229416.1 A7E2V4 ZSWM8_HUMAN zinc finger, SWIM-type containing 8 NA NA zinc ion binding (GO:0008270) NA cagcactttgagaggccgatg 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC151206, BC040726 CCDS44440.1, CCDS60560.1 10q22.3 2012-11-02 2012-11-02 2012-11-02 ENSG00000214655 ENSG00000214655 23053 Zinc fingers, SWIM-type 23528 protein-coding gene gene with protein product KIAA0913 KIAA0913 NA Standard NM_001242487 NM_015037 NA Approved 4832404P21Rik uc001jvj.3 A7E2V4 OTTHUMG00000018486 ENST00000605216.1:c.4650+200A>G chr10.hg19:g.75559448A>G NA B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3 hg19 0.02 1.528939 TTGxGAG COVERED NOVEL ZSWIM8-012 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000468545.1 8 6.35366 KEEP 1 1 34 33 1025 AA 0.999998 0.992924 0 + 5 60 154 0 0 10.514764 50 60 1485 119 ENST00000605216.1 0.090909 0.992926 VDAC2 7417 __UNKNOWN__ __UNKNOWN__ 10 76973310 76973310 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:76973310A>G ENST00000332211.6 + 4 313 VDAC2_ENST00000313132.4_Intron|VDAC2_ENST00000472137.1_Intron|VDAC2_ENST00000543351.1_Intron|VDAC2_ENST00000535553.1_Intron NM_003375.3 NP_003366.2 P45880 VDAC2_HUMAN voltage-dependent anion channel 2 NA NA anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930) nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308) breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 10 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) Dihydroxyaluminium(DB01375) agaccatcctagctaacacgg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000165 CCDS7348.1, CCDS53544.1 10q22 2011-11-15 ENSG00000165637 ENSG00000165637 7417 Voltage-dependent anion channels 12672 protein-coding gene gene with protein product 193245 NA 7517385, 10049775 Standard NM_003375 NM_003375 NA Approved uc021ptp.1 P45880 OTTHUMG00000018517 ENST00000332211.6:c.101-469A>G chr10.hg19:g.76973310A>G NA Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6 hg19 CCDS7348.1 0.02 -0.140291 CCTxGCT COVERED NOVEL VDAC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048792.1 5 3.309961 KEEP 8 0 0 11 339 AA 0.99254 0.259018 0 + 3 60 91 0 0 7.179555 13 60 367 44 ENST00000332211.6 0.1875 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 77019291 77019291 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:77019291T>C NA NA COMTD1 (23522 upstream) : RP11-399K21.11 (20192 downstream) NA NA NA cactgcactctagcctgggtg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.77019291T>C NA hg19 0.02 -0.192944 CTCxAGC COVERED NOVEL 0 5 2.708486 KEEP 0 0 0 9 291 TT 0.99254 0.454342 0 3 60 99 0 0 7.592265 18 60 523 42 0.142857 0.457757 DLG5 9231 __UNKNOWN__ __UNKNOWN__ 10 79655550 79655550 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:79655550T>C ENST00000372391.2 - 2 310 DLG5_ENST00000372388.2_Intron NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) NA NA apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186) cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159) breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ggcggatcacttgaggtcagg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U61843 CCDS7353.2 10q23 2008-07-09 2001-11-28 ENSG00000151208 ENSG00000151208 9231 2904 protein-coding gene gene with protein product 604090 discs, large (Drosophila) homolog 5 NA 9738934 Standard XM_005270276 NA Approved P-dlg, KIAA0583 uc001jzk.3 Q8TDM6 OTTHUMG00000018548 ENST00000372391.2:c.305-26595A>G chr10.hg19:g.79655550T>C NA A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3 hg19 CCDS7353.2 0.02 -0.131576 CACxTGA COVERED NOVEL DLG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048900.2 2 2.407548 KEEP 0 0 0 8 262 TT 0.99257 0.22747 0 - 3 60 105 0 0 9.001135 9 60 275 32 ENST00000372391.2 0.25 0.229173 ANXA11 311 __UNKNOWN__ __UNKNOWN__ 10 81913734 81913734 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:81913734T>C ENST00000438331.1 - 0 3875 ANXA11_ENST00000372231.3_3'UTR NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 NA NA cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592) azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548) endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) cgctctgttgtccaggctgga 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L19605 CCDS7364.1, CCDS60576.1 10q22.3 2005-11-09 ENSG00000122359 ENSG00000122359 311 Annexins 535 protein-coding gene gene with protein product 602572 ANX11 NA 7508441, 9503022 Standard NM_145869 NM_001157 NA Approved uc001kbt.1 P50995 OTTHUMG00000018604 ENST00000438331.1:c.*1875A>G chr10.hg19:g.81913734T>C NA B4DVE7 hg19 CCDS7364.1 0.02 1.664898 TTGxCCA COVERED NOVEL ANXA11-003 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000049044.1 13 8.156027 KEEP 0 1 34 39 1148 TT 1 0.999919 0 - 4 60 133 0 0 8.273726 78 60 2137 149 ENST00000438331.1 0.04878 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 82982676 82982676 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:82982676T>C NA NA AL356154.1 (78189 upstream) : NRG3 (652393 downstream) NA NA NA Cggccgggcgtggtggctcac 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.82982676T>C NA hg19 0.02 -0.210452 GCGxGGT UNCOVERED NOVEL 0 5 2.40698 KEEP 1 0 0 8 243 TT 0 0 0 3 60 98 0 0 7.365364 20 60 558 45 0.130435 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 85598632 85598632 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:85598632A>G NA NA RNU6-129P (74412 upstream) : RP11-219F10.1 (72777 downstream) NA NA NA gcagtgagccaagatcgcgcc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.85598632A>G NA hg19 0.02 -0.166632 GCCxAGA COVERED NOVEL 0 4 2.407023 KEEP 3 0 0 8 242 AA 0.99257 0.351317 0 3 51 102 1 0 8.110213 15 60 429 40 0.166667 0.353947 WAPAL 23063 __UNKNOWN__ __UNKNOWN__ 10 88262965 88262965 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:88262965A>G ENST00000298767.5 - 3 972 NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) NA NA mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032) chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795) breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 gggggctcacacctgtaatcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB065003 CCDS7375.1 10q23.31 2006-12-08 2006-03-16 2006-03-16 ENSG00000062650 ENSG00000062650 23063 23293 protein-coding gene gene with protein product friend of EBNA2 610754 KIAA0261 KIAA0261 NA 9039502, 17112726 Standard NM_015045 XM_006717726 NA Approved FOE, WAPL uc001kdo.3 Q7Z5K2 OTTHUMG00000018651 ENST00000298767.5:c.500-2465T>C chr10.hg19:g.88262965A>G NA A7E2B5|Q5VSK5|Q8IX10|Q92549 hg19 CCDS7375.1 0.02 -0.210491 CACxCCT COVERED NOVEL WAPAL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049151.2 9 3.299643 KEEP 2 0 0 11 304 AA 0.992708 0.518353 0 - 3 60 100 0 0 7.991838 14 60 409 49 ENST00000298767.5 0.176471 0.522161 BMPR1A 657 __UNKNOWN__ __UNKNOWN__ 10 88684222 88684222 __UNKNOWN__ 3'UTR SNP A A G rs61856965 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:88684222A>G ENST00000372037.3 + 0 2882 NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA NA NA BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179) dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 GCCAAGGCCAAAAGAAGTTTA 0.378 NA Mis, N, F gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(190;603 2086 22044 30335 47971) yes Rec Juvenile polyposis 10 10q22.3 657 bone morphogenetic protein receptor, type IA E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl.: Juvenile Polyposis of the Stomach;HMPS2 BC028383 CCDS7378.1 10q22.3 2014-09-17 ENSG00000107779 ENSG00000107779 657 CD molecules 1076 protein-coding gene gene with protein product 601299 ACVRLK3 NA 8397373, 9730621 Standard NM_004329 NM_004329 NA Approved ALK3, CD292 uc001kdy.3 P36894 OTTHUMG00000018657 ENST00000372037.3:c.*746A>G chr10.hg19:g.88684222A>G NA A8K6U9|Q8NEN8 hg19 CCDS7378.1 0.02 2.096848 CCAxAAG COVERED NOVEL BMPR1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049170.3 2 12.776481 KEEP 53 1 39 56 1834 AA 1 0.979526 0 + 5 39 164 0 0 11.474021 51 60 1513 214 ENST00000372037.3 0.089286 0.979526 RP11-96C23.5 0 __UNKNOWN__ __UNKNOWN__ 10 88734916 88734916 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:88734916A>G ENST00000433214.2 + 0 175 NA NA NA aaagtgctggaagtacaggtg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000433214.2: chr10.hg19:g.88734916A>G NA hg19 0.02 -0.271477 TGGxAGT COVERED NOVEL RP11-96C23.5-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000049192.3 5 2.407384 KEEP 0 0 0 8 257 AA 0.99257 0.711986 0 + 4 60 130 1 0 9.926448 24 60 697 57 ENST00000433214.2 0.142857 0.717315 RP11-96C23.5 0 __UNKNOWN__ __UNKNOWN__ 10 88734918 88734918 __UNKNOWN__ RNA SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:88734918G>T ENST00000433214.2 + 0 175 NA NA NA agtgctggaagtacaggtgtg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000433214.2: chr10.hg19:g.88734918G>T NA hg19 0.02 -0.280634 GAAxTAC COVERED NOVEL RP11-96C23.5-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000049192.3 5 2.708839 KEEP 0 0 0 9 324 GG 0.99254 0.734154 0 + 4 60 110 1 0 7.862497 25 60 854 59 ENST00000433214.2 0.137931 0.739671 NUTM2A-AS1 728190 __UNKNOWN__ __UNKNOWN__ 10 88972286 88972286 __UNKNOWN__ RNA SNP C C T rs149157428 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:88972286C>T ENST00000451940.2 - 0 600 NUTM2A antisense RNA 1 NA NA NA atcgcgccaccgcactccagc 0.522 NA .||| 73 0.0145767 0.0461 0.0058 5008 , , NA 16830 0.001 NA 0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK311174, AK309777 10q23.2 2013-03-14 2013-03-14 2013-03-14 ENSG00000223482 ENSG00000223482 728190 Long non-coding RNAs 45161 non-coding RNA RNA, long non-coding FAM22A antisense RNA 1 FAM22A-AS1 NA Standard NR_024397 NR_024397 NA Approved uc001kem.3 OTTHUMG00000018671 ENST00000451940.2: chr10.hg19:g.88972286C>T NA hg19 0.02 -0.394503 CACxGCA COVERED NOVEL NUTM2A-AS1-004 KNOWN basic antisense NA antisense OTTHUMT00000049202.2 0 3.344444 KEEP 0 1 25 20 705 CC 0.999869 0.93437 0 - 7 60 203 0 0 16.343602 25 60 754 69 ENST00000451940.2 0.21875 0.934492 NUTM2A-AS1 728190 __UNKNOWN__ __UNKNOWN__ 10 88972311 88972311 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:88972311G>A ENST00000451940.2 - 0 600 NUTM2A antisense RNA 1 NA NA NA gcgacagagcgagactccgtc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK311174, AK309777 10q23.2 2013-03-14 2013-03-14 2013-03-14 ENSG00000223482 ENSG00000223482 728190 Long non-coding RNAs 45161 non-coding RNA RNA, long non-coding FAM22A antisense RNA 1 FAM22A-AS1 NA Standard NR_024397 NR_024397 NA Approved uc001kem.3 OTTHUMG00000018671 ENST00000451940.2: chr10.hg19:g.88972311G>A NA hg19 0.02 1.362265 AGCxAGA COVERED NOVEL NUTM2A-AS1-004 KNOWN basic antisense NA antisense OTTHUMT00000049202.2 2 11.126743 KEEP 1 0 0 37 1172 GG 1 0.999487 0 - 6 60 181 2 0 12.280721 59 60 1793 129 ENST00000451940.2 0.092308 0.999487 NUTM2A-AS1 728190 __UNKNOWN__ __UNKNOWN__ 10 88972319 88972319 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:88972319G>A ENST00000451940.2 - 0 600 NUTM2A antisense RNA 1 NA NA NA gcgagactccgtctcaaaaaa 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK311174, AK309777 10q23.2 2013-03-14 2013-03-14 2013-03-14 ENSG00000223482 ENSG00000223482 728190 Long non-coding RNAs 45161 non-coding RNA RNA, long non-coding FAM22A antisense RNA 1 FAM22A-AS1 NA Standard NR_024397 NR_024397 NA Approved uc001kem.3 OTTHUMG00000018671 ENST00000451940.2: chr10.hg19:g.88972319G>A NA hg19 0.02 1.210498 TCCxTCT COVERED NOVEL NUTM2A-AS1-004 KNOWN basic antisense NA antisense OTTHUMT00000049202.2 2 9.425438 KEEP 1 1 33 43 1319 GG 1 0.999835 0 - 4 60 126 1 1 7.757078 70 60 2136 150 ENST00000451940.2 0.054054 0.999835 ATAD1 84896 __UNKNOWN__ __UNKNOWN__ 10 89585331 89585331 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:89585331A>G ENST00000495903.1 - 2 157 CFL1P1_ENST00000438248.1_RNA Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 NA NA ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092) cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|ATPase activity (GO:0016887) kidney(1)|large_intestine(4)|lung(4)|ovary(1) 10 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) ctcccaaagtactgggattac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834370 CCDS7386.1 10q23.31 2010-04-21 2007-02-08 ENSG00000138138 ENSG00000138138 84896 ATPases / AAA-type 25903 protein-coding gene gene with protein product 614452 NA 12477932 Standard NM_032810 NM_032810 NA Approved FLJ14600 uc001kez.1 Q8NBU5 OTTHUMG00000018685 ENST00000495903.1:c.515-10962T>C chr10.hg19:g.89585331A>G NA D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3 hg19 0.02 -0.201696 AGTxCTG COVERED NOVEL ATAD1-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000049238.1 7 2.707387 KEEP 1 0 0 9 264 AA 0.99254 0.518266 0 - 3 60 108 0 0 8.560857 17 60 484 47 ENST00000495903.1 0.15 0.522161 PTEN 5728 __UNKNOWN__ __UNKNOWN__ 10 89725861 89725861 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:89725861C>T ENST00000371953.3 + 0 3201 NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog NA NA activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220) anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGGAATTGGCCGCTGTCACTG 0.403 31 D, Mis, N, F, S glioma, prostate, endometrial harmartoma, glioma, prostate, endometrial Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome 10 10q23.3 5728 phosphatase and tensin homolog gene L, E, M, O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s. U92436 CCDS31238.1 10q23 2014-09-17 2008-07-31 ENSG00000171862 ENSG00000171862 5728 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs 9588 protein-coding gene gene with protein product mutated in multiple advanced cancers 1 601728 BZS, MHAM NA 9090379 Standard NM_000314 NM_000314 NA Approved MMAC1, TEP1, PTEN1 uc001kfb.3 P60484 OTTHUMG00000018688 ENST00000371953.3:c.*632C>T chr10.hg19:g.89725861C>T NA B2R904|F2YHV0|O00633|O02679|Q6ICT7 hg19 CCDS31238.1 0.02 2.62018 GGCxGCT COVERED NOVEL PTEN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049241.1 10 11.404605 KEEP 13 11 342 158 5283 CC 1 1 0 + 16 60 450 0 0 31.000129 125 70 4089 440 ENST00000371953.3 0.113475 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 89768015 89768015 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:89768015C>T NA NA SNORD74 (13563 upstream) : RNLS (265605 downstream) NA NA NA gtgctgggatcacaggcatga 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.89768015C>T NA hg19 0.02 -0.166661 GATxACA COVERED NOVEL 0 7 2.407853 KEEP 0 0 0 8 283 CC 0.99257 0.351317 0 3 60 91 0 0 7.481821 10 60 342 37 0.230769 0.353947 FGFBP3 143282 __UNKNOWN__ __UNKNOWN__ 10 93667452 93667452 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:93667452G>A ENST00000311575.5 - 0 1438 NM_152429.4 NP_689642.3 Q8TAT2 FGFP3_HUMAN fibroblast growth factor binding protein 3 NA NA positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of vascular permeability (GO:0043117) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201) large_intestine(1)|prostate(1) 2 Colorectal(252;0.162) ATTCAGAAACGGAAAAAAAGT 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK075410 CCDS7418.1 10q23.33 2006-12-14 2006-12-14 2006-12-14 ENSG00000174721 ENSG00000174721 143282 23428 protein-coding gene gene with protein product chromosome 10 open reading frame 13 C10orf13 NA Standard NM_152429 NM_152429 NA Approved MGC39320 uc001khq.4 Q8TAT2 OTTHUMG00000018751 ENST00000311575.5:c.*498C>T chr10.hg19:g.93667452G>A NA B2RD68|Q8NBN0 hg19 CCDS7418.1 0.02 1.181675 AACxGAA COVERED NOVEL FGFBP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049379.1 3 9.624776 KEEP 0 0 0 32 1057 GG 0.999997 0.999315 0 - 5 60 153 0 0 9.543275 76 60 2461 143 ENST00000311575.5 0.061728 0.999317 KIF11 3832 __UNKNOWN__ __UNKNOWN__ 10 94413678 94413678 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:94413678T>C ENST00000260731.3 + 0 3386 NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051) cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901) breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 cggtggctcatgcctgtaatc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(47;212 1003 2764 4062 8431) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X85137 CCDS7422.1 10q24.1 2008-03-03 2003-01-09 2003-01-10 ENSG00000138160 ENSG00000138160 3832 Kinesins 6388 protein-coding gene gene with protein product 148760 kinesin-like 1 KNSL1 NA 1505978, 8548803 Standard NM_004523 NM_004523 NA Approved Eg5, HKSP, TRIP5 uc001kic.3 P52732 OTTHUMG00000018761 ENST00000260731.3:c.*125T>C chr10.hg19:g.94413678T>C NA A0AV49|B2RMV3|Q15716|Q5VWX0 hg19 CCDS7422.1 0.02 5.440479 TCAxGCC COVERED NOVEL KIF11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049401.1 33 23.539228 KEEP 2 2 65 101 3188 TT 1 1 0 + 10 60 343 0 0 22.94754 146 60 4411 423 ENST00000260731.3 0.064103 1 KIF11 3832 __UNKNOWN__ __UNKNOWN__ 10 94413706 94413706 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:94413706T>C ENST00000260731.3 + 0 3414 NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051) cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901) breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 tttgggaggctgaggcgggtg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(47;212 1003 2764 4062 8431) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X85137 CCDS7422.1 10q24.1 2008-03-03 2003-01-09 2003-01-10 ENSG00000138160 ENSG00000138160 3832 Kinesins 6388 protein-coding gene gene with protein product 148760 kinesin-like 1 KNSL1 NA 1505978, 8548803 Standard NM_004523 NM_004523 NA Approved Eg5, HKSP, TRIP5 uc001kic.3 P52732 OTTHUMG00000018761 ENST00000260731.3:c.*153T>C chr10.hg19:g.94413706T>C NA A0AV49|B2RMV3|Q15716|Q5VWX0 hg19 CCDS7422.1 0.02 3.716925 GGCxGAG COVERED NOVEL KIF11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049401.1 12 22.267375 KEEP 2 0 0 74 2353 TT 1 0.999999 0 + 6 60 173 0 0 10.377317 105 60 3150 245 ENST00000260731.3 0.054054 0.999999 EXOC6 54536 __UNKNOWN__ __UNKNOWN__ 10 94661503 94661503 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:94661503T>C ENST00000260762.6 + 5 472 EXOC6_ENST00000371552.4_Intron|EXOC6_ENST00000371543.1_3'UTR|EXOC6_ENST00000371547.4_Intron|EXOC6_ENST00000443748.2_Intron NM_019053.4 NP_061926.3 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 NA NA cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904) exocyst (GO:0000145)|plasma membrane (GO:0005886) cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) acctgtaatctcagcactttg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028395 CCDS7424.2, CCDS31247.1 10q23.33 2013-01-22 2006-11-07 2006-11-07 ENSG00000138190 ENSG00000138190 54536 23196 protein-coding gene gene with protein product 609672 SEC15-like 1 (S. cerevisiae) SEC15L1 NA 8889548 Standard NM_019053 NM_001013848 NA Approved SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A uc001kig.3 Q8TAG9 OTTHUMG00000018767 ENST00000260762.6:c.458+2102T>C chr10.hg19:g.94661503T>C NA E9PHI3|Q5VXH8|Q9NZ24 hg19 CCDS7424.2 0.02 -0.403458 ATCxCAG COVERED NOVEL EXOC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049410.2 4 3.912386 KEEP 0 0 0 13 430 TT 0.994391 0.936459 0 + 4 60 129 0 0 9.032581 39 60 1166 68 ENST00000260762.6 0.093023 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 94967423 94967423 __UNKNOWN__ IGR SNP C C A rs202244884|rs1467683 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:94967423C>A NA NA CYP26A1 (129776 upstream) : MYOF (98763 downstream) NA NA NA taaataaatacatacatacat 0.393 NA c||| 1624 0.324281 0.1165 0.3732 5008 , , NA 22990 0.7083 NA 0.1342 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.94967423C>A NA hg19 0.02 8.106588 ATAxATA COVERED NOVEL 0 311 8.576669 KEEP 22 2 58 49 1707 CC 1 1 0 8 60 234 1 0 16.077163 69 60 2261 474 0.103896 1 MYOF 26509 __UNKNOWN__ __UNKNOWN__ 10 95176590 95176590 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:95176590A>G ENST00000359263.4 - 6 433 MYOF_ENST00000371489.1_Intron|MYOF_ENST00000358334.5_Intron|MYOF_ENST00000371502.4_Intron|MYOF_ENST00000371501.4_Intron NM_013451.3 NP_038479.1 Q9NZM1 MYOF_HUMAN myoferlin NA NA blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947) caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) phospholipid binding (GO:0005543) NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 cctgacctcaagtgatccacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033033 CCDS41550.1, CCDS41551.1 10q24 2014-06-27 2008-11-26 2008-11-26 ENSG00000138119 ENSG00000138119 26509 3656 protein-coding gene gene with protein product fer-1-like family member 3 604603 fer-1 (C.elegans)-like 3 (myoferlin), fer-1-like 3, myoferlin (C. elegans) FER1L3 NA 10607832, 10995573, 17702744 Standard NM_013451 NM_013451 NA Approved KIAA1207 uc001kin.3 Q9NZM1 OTTHUMG00000018772 ENST00000359263.4:c.434-7094T>C chr10.hg19:g.95176590A>G NA B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4 hg19 CCDS41551.1 0.02 -0.087711 TCAxGTG UNCOVERED NOVEL MYOF-005 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000049423.2 3 2.40767 KEEP 0 0 0 8 267 AA 0.99257 0.09898 0 - 3 54 108 0 0 9.743948 6 60 177 25 ENST00000359263.4 0.333333 0.099721 PDE6C 5146 __UNKNOWN__ __UNKNOWN__ 10 95421960 95421960 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:95421960A>G ENST00000371447.3 + 19 2421 PDE6C_ENST00000475427.2_Intron NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime NA NA phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601) plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) Caffeine(DB00201) ggtggctcacacctgtaatcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U31973 CCDS7429.1 10q24 2013-01-23 ENSG00000095464 ENSG00000095464 5146 3.1.4.17 Phosphodiesterases 8787 protein-coding gene gene with protein product 600827 NA Standard NM_006204 NM_006204 NA Approved PDEA2, ACHM5, COD4 uc001kiu.4 P51160 OTTHUMG00000018775 ENST00000371447.3:c.2283+70A>G chr10.hg19:g.95421960A>G NA A6NCR6|Q5VY29 hg19 CCDS7429.1 0.02 1.8362 CACxCCT COVERED NOVEL PDE6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049437.1 7 12.762417 KEEP 1 1 36 55 1535 AA 1 0.992094 0 + 5 60 164 0 0 11.354846 54 60 1511 141 ENST00000371447.3 0.084746 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 95721367 95721367 __UNKNOWN__ IGR SNP C C G rs1977861|rs557416715 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:95721367C>G NA NA PIPSL (70 upstream) : PLCE1 (32378 downstream) NA NA NA GTTCTGTGGGCCCCCTCCCCG 0.607 NA C||| 3959 0.790535 0.7209 0.8501 5008 , , NA 14491 0.7887 NA 0.7863 False NA ,,, NA NA NA 2504 0.8487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.95721367C>G NA hg19 0.02 3.470148 GGGxCCC COVERED NOVEL 0 3 23.170001 KEEP 0 0 0 77 2722 CC 1 1 0 5 60 173 0 0 10.216895 142 60 4808 322 0.034014 1 PLCE1 51196 __UNKNOWN__ __UNKNOWN__ 10 96075276 96075276 __UNKNOWN__ Intron SNP G G A rs146753651 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:96075276G>A ENST00000371380.3 + 28 6367 NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371385.3_Intron|PLCE1_ENST00000371375.1_Intron Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 NA NA activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) ctgtaatcccggcactttggg 0.448 NA G||| 58 0.0115815 0.0356 0 5008 , , NA 17976 0.0109 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41552.1, CCDS53555.1 10q23 2010-02-22 ENSG00000138193 ENSG00000138193 51196 3.1.4.11 17175 protein-coding gene gene with protein product nephrosis type 3 608414 NA 11022047, 11022048 Standard NM_016341 NM_016341 NA Approved KIAA1516, PLCE, NPHS3 uc001kjk.3 Q9P212 OTTHUMG00000018789 ENST00000371380.3:c.6133-1028G>A chr10.hg19:g.96075276G>A NA A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3 hg19 CCDS41552.1 0.02 -0.289472 CCCxGCA COVERED NOVEL PLCE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000049469.3 3 4.950103 KEEP 0 1 33 28 931 GG 0.999997 0.760885 0 + 5 60 152 0 0 11.564645 27 60 878 67 ENST00000371380.3 0.15625 0.760887 RP11-119K6.6 0 __UNKNOWN__ __UNKNOWN__ 10 96367733 96367733 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:96367733C>T ENST00000432120.1 + 0 207 NA NA NA ctgcccacctcggcctcccaa 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000432120.1: chr10.hg19:g.96367733C>T NA hg19 0.02 3.812628 CCTxGGC COVERED . . . . . . . . . . C 3.719 -0.057994 0.07317 . . ENSG00000119969 ENST00000371327 T 0.01933 4.55 0.401 -0.667 0.11395 . . . . . T 0.02970 0.0088 . . . 0.09310 N 1 . . . . . . T 0.41963 -0.9479 5 0.87932 D 0 . . . . . . . . L 295 ENSP00000360378:S295L ENSP00000360378:S295L S + 2 0 HELLS 96357723 0.007000 0.16637 0.002000 0.10522 0.002000 0.02628 -0.309000 0.08145 -0.440000 0.07211 -0.436000 0.05848 TCG NOVEL RP11-119K6.6-001 KNOWN basic sense_overlapping NA sense_overlapping OTTHUMT00000049474.1 35 34.143589 KEEP 0 1 30 124 4251 CC 1 1 0 + 8 60 212 0 0 11.114225 160 60 5233 443 ENST00000432120.1 0.047619 1 RP11-119K6.6 0 __UNKNOWN__ __UNKNOWN__ 10 96367759 96367759 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:96367759A>G ENST00000432120.1 + 0 207 NA NA NA tgggattacaagcgtgagcca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000432120.1: chr10.hg19:g.96367759A>G NA hg19 0.02 7.522692 ACAxGCG COVERED . . . . . . . . . . A 6.142 0.394417 0.11638 . . ENSG00000119969 ENST00000371327 T 0.06849 3.25 0.401 -0.802 0.10889 . . . . . T 0.08268 0.0206 . . . 0.09310 N 1 . . . . . . T 0.33904 -0.9850 5 0.54805 T 0.06 . . . . . . . . G 304 ENSP00000360378:S304G ENSP00000360378:S304G S + 1 0 HELLS 96357749 0.054000 0.20591 0.003000 0.11579 0.003000 0.03518 -0.375000 0.07475 -0.470000 0.06901 -0.483000 0.04790 AGC NOVEL RP11-119K6.6-001 KNOWN basic sense_overlapping NA sense_overlapping OTTHUMT00000049474.1 60 27.300761 KEEP 0 6 222 168 5466 AA 1 1 0 + 23 60 786 1 0 57.630188 196 60 5940 593 ENST00000432120.1 0.105023 1 PDLIM1 9124 __UNKNOWN__ __UNKNOWN__ 10 97034333 97034333 __UNKNOWN__ Intron SNP C C T rs569957272 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:97034333C>T ENST00000329399.6 - 2 205 PDLIM1_ENST00000477757.1_Intron NM_020992.2 NP_066272.1 O00151 PDLI1_HUMAN PDZ and LIM domain 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667) transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) ggattacaggcgtgagccacc 0.517 NA C||| 4 0.000798722 0.003 0 5008 , , NA 18180 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90878 CCDS7441.1 10q23.1 2008-07-29 2008-07-29 ENSG00000107438 ENSG00000107438 9124 2067 protein-coding gene gene with protein product carboxyl terminal LIM domain protein 1, elfin 605900 PDZ and LIM domain 1 (elfin) CLIM1 NA 10861853 Standard NM_020992 NA Approved CLP-36, hCLIM1, CLP36 uc001kkh.4 O00151 OTTHUMG00000018810 ENST00000329399.6:c.97-2792G>A chr10.hg19:g.97034333C>T NA B2RBS6|Q5VZH5|Q9BPZ9 hg19 CCDS7441.1 0.02 -0.175438 AGGxGTG COVERED NOVEL PDLIM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049508.1 2 2.708344 KEEP 2 0 0 9 297 CC 0.99257 0.384528 0 - 3 60 93 0 0 7.291785 14 60 452 46 ENST00000329399.6 0.176471 0.387407 RP11-248J23.7 0 __UNKNOWN__ __UNKNOWN__ 10 97629286 97629286 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:97629286A>T ENST00000491114.1 + 2 173 RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_3'UTR|ENTPD1_ENST00000539125.1_3'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000543964.1_3'UTR|ENTPD1_ENST00000371207.3_3'UTR|ENTPD1_ENST00000453258.2_3'UTR NA NA NA ggattacaggagtgagccacc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000491114.1:c.173+4668A>T chr10.hg19:g.97629286A>T NA hg19 0.02 -0.289384 AGGxGTG COVERED NOVEL RP11-248J23.7-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000468146.1 6 2.404551 KEEP 0 0 0 8 244 AA 0.99257 0.7943 0 + 4 60 112 0 0 7.877925 28 60 812 57 ENST00000491114.1 0.125 0.800245 TM9SF3 56889 __UNKNOWN__ __UNKNOWN__ 10 98279547 98279547 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:98279547G>A ENST00000371142.4 - 0 4459 NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 NA NA integral component of membrane (GO:0016021) breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) acacacacacgcacacacata 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF160213, AF269150 CCDS7450.1 10q24.2 2006-04-12 ENSG00000077147 ENSG00000077147 56889 21529 protein-coding gene gene with protein product NA 11530251, 11595169 Standard NM_020123 NM_020123 NA Approved SMBP uc001kmm.4 Q9HD45 OTTHUMG00000018834 ENST00000371142.4:c.*2473C>T chr10.hg19:g.98279547G>A NA Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8 hg19 CCDS7450.1 0.02 2.777925 CACxCAC COVERED NOVEL TM9SF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049610.2 17 4.007766 KEEP 0 3 96 47 1585 GG 1 0.999997 0 - 8 60 225 0 2 13.922862 101 60 3271 246 ENST00000371142.4 0.073394 0.999997 LCOR 84458 __UNKNOWN__ __UNKNOWN__ 10 98699590 98699590 __UNKNOWN__ Intron SNP C C T rs181037919 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:98699590C>T ENST00000371097.4 + 5 363 LCOR_ENST00000356016.3_Intron|LCOR_ENST00000371103.3_Intron|LCOR_ENST00000540664.1_Intron Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1) 13 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) cctgatggcacgcgcctgtag 0.552 NA C||| 1 0.000199681 0 0.0014 5008 , , NA 16828 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7451.1, CCDS53561.1 10q24 2006-06-28 ENSG00000196233 ENSG00000196233 84458 29503 protein-coding gene gene with protein product 607698 NA 12535528, 15193453 Standard NM_001170765 NA Approved MLR2, FLJ38026, KIAA1795 Q96JN0 OTTHUMG00000018841 ENST00000371097.4:c.-183-4280C>T chr10.hg19:g.98699590C>T NA D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6 hg19 CCDS7451.1 0.02 -0.078936 GCAxGCG UNCOVERED NOVEL LCOR-009 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000049628.2 5 2.407636 KEEP 0 0 0 8 269 CC 0.99257 0.076761 0 + 3 60 84 0 0 7.343142 6 60 189 20 ENST00000371097.4 0.333333 0.077336 SLIT1 6585 __UNKNOWN__ __UNKNOWN__ 10 98812121 98812121 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:98812121C>T ENST00000266058.4 - 14 1547 SLIT1_ENST00000371070.4_Intron|ARHGAP19-SLIT1_ENST00000453547.2_Intron NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) NA NA axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028) extracellular space (GO:0005615) calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) cctcccaaagcactgggatta 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011537 CCDS7453.1 10q23.3-q24 2008-08-01 2001-11-28 ENSG00000187122 ENSG00000187122 6585 11085 protein-coding gene gene with protein product 603742 slit (Drosophila) homolog 1 SLIL1 NA 9693030, 9813312 Standard NM_003061 NM_003061 NA Approved slit1, MEGF4, Slit-1, SLIT3 uc001kmw.2 O75093 OTTHUMG00000018843 ENST00000266058.4:c.1302-3246G>A chr10.hg19:g.98812121C>T NA Q5T0V1|Q8WWZ2|Q9UIL7 hg19 CCDS7453.1 0.02 -0.166666 AAGxACT UNCOVERED NOVEL SLIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049636.1 5 2.407961 KEEP 1 0 0 8 293 CC 0 0 0 - 4 60 112 0 0 9.080818 13 60 455 37 ENST00000266058.4 0.235294 0.353947 ARHGAP19 84986 __UNKNOWN__ __UNKNOWN__ 10 99022630 99022630 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:99022630C>T ENST00000358531.4 - 4 642 ARHGAP19_ENST00000355366.5_Intron|ARHGAP19-SLIT1_ENST00000316676.8_Intron|ARHGAP19-SLIT1_ENST00000358308.3_Intron|ARHGAP19-SLIT1_ENST00000453547.2_Intron|ARHGAP19_ENST00000371027.1_Intron NM_001204300.1|NM_032900.5 NP_001191229.1|NP_116289.4 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|nucleus (GO:0005634) GTPase activator activity (GO:0005096) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1) 13 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) cccagcacttcaggaggccaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074122 CCDS7454.2, CCDS58092.1, CCDS73175.1 10q24.2 2011-06-29 ENSG00000213390 ENSG00000213390 84986 Rho GTPase activating proteins 23724 protein-coding gene gene with protein product 611587 NA Standard NM_032900 NM_032900 NA Approved FLJ00194, MGC14258 uc001knb.3 Q14CB8 OTTHUMG00000018845 ENST00000358531.4:c.613+546G>A chr10.hg19:g.99022630C>T NA A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1 hg19 CCDS7454.2 0.02 -0.166664 CTTxAGG COVERED NOVEL ARHGAP19-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049647.2 6 2.708909 KEEP 0 0 0 9 326 CC 0.99254 0.351306 0 - 3 60 83 0 0 6.379511 13 60 441 42 ENST00000358531.4 0.1875 0.353947 RRP12 23223 __UNKNOWN__ __UNKNOWN__ 10 99132458 99132458 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:99132458G>C ENST00000370992.4 - 19 2361 RRP12_ENST00000479481.1_Intron|RRP12_ENST00000414986.1_Intron|RRP12_ENST00000536831.1_Intron|RRP12_ENST00000315563.6_Intron NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) NA NA integral component of membrane (GO:0016021)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TCCCTGGGCTGCTCCAGCTCA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 42 33 36 NA NA NA 10 NA NA 99132458 2176 4250 6426 SO:0001627 intron_variant CCDS7457.1, CCDS44467.1, CCDS60605.1 10q24.2 2006-11-06 2006-11-06 2006-11-06 ENSG00000052749 ENSG00000052749 23223 29100 protein-coding gene gene with protein product KIAA0690 KIAA0690 NA 9734811 Standard NM_015179 NM_015179 NA Approved uc001knf.3 Q5JTH9 OTTHUMG00000018855 ENST00000370992.4:c.2249+34C>G chr10.hg19:g.99132458G>C NA B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7 hg19 CCDS7457.1 0.02 -0.368201 GCTxCTC COVERED NOVEL RRP12-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000049699.4 1 4.214 KEEP 0 0 0 14 523 GG 0.995343 0.895126 0 - 17 60 552 0 0 51.210158 24 60 834 79 ENST00000370992.4 0.414634 0.899314 EXOSC1 51013 __UNKNOWN__ __UNKNOWN__ 10 99197385 99197385 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:99197385A>G ENST00000370902.3 - 6 428 EXOSC1_ENST00000485122.2_Intron|EXOSC1_ENST00000471049.1_Intron|EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000370886.5_Intron NM_016046.3 NP_057130.1 Q9Y3B2 EXOS1_HUMAN exosome component 1 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364) cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634) RNA binding (GO:0003723) breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) gattacaggcatgagccacca 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 29 29 29 NA NA NA 10 NA NA 99197385 692 1591 2283 SO:0001627 intron_variant AF151866 CCDS7459.1 10q24 2004-03-26 ENSG00000171311 ENSG00000171311 51013 17286 protein-coding gene gene with protein product CSL4 exosomal core protein homolog (yeast) 606493 NA 11812149, 11719186 Standard XR_246092 NA Approved hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13 uc001kni.3 Q9Y3B2 OTTHUMG00000018854 ENST00000370902.3:c.396+71T>C chr10.hg19:g.99197385A>G NA B2R9B3|Q5JTH3 hg19 CCDS7459.1 0.02 1.5905 GGCxTGA COVERED NOVEL EXOSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049680.1 9 14.14112 KEEP 2 0 0 47 1449 AA 1 0.999862 0 - 4 60 136 0 0 8.52986 80 60 2351 166 ENST00000370902.3 0.047619 0.999862 EXOSC1 51013 __UNKNOWN__ __UNKNOWN__ 10 99198327 99198327 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:99198327A>G ENST00000370902.3 - 5 377 EXOSC1_ENST00000485122.2_Intron|EXOSC1_ENST00000471049.1_Intron|EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000370886.5_Intron NM_016046.3 NP_057130.1 Q9Y3B2 EXOS1_HUMAN exosome component 1 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364) cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634) RNA binding (GO:0003723) breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) ctcccaaagtactgggattac 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151866 CCDS7459.1 10q24 2004-03-26 ENSG00000171311 ENSG00000171311 51013 17286 protein-coding gene gene with protein product CSL4 exosomal core protein homolog (yeast) 606493 NA 11812149, 11719186 Standard XR_246092 NA Approved hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13 uc001kni.3 Q9Y3B2 OTTHUMG00000018854 ENST00000370902.3:c.345+99T>C chr10.hg19:g.99198327A>G NA B2R9B3|Q5JTH3 hg19 CCDS7459.1 0.02 5.786867 AGTxCTG COVERED NOVEL EXOSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049680.1 31 17.346699 KEEP 0 3 107 95 2783 AA 1 1 0 - 10 60 354 1 0 23.990262 148 60 4172 377 ENST00000370902.3 0.063291 1 UBTD1 80019 __UNKNOWN__ __UNKNOWN__ 10 99306091 99306091 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:99306091G>A ENST00000370664.3 + 2 406 NM_024954.3 NP_079230.1 Q9HAC8 UBTD1_HUMAN ubiquitin domain containing 1 NA NA central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1) 7 Colorectal(252;0.162) Epithelial(162;3.04e-10)|all cancers(201;2.86e-08) cacacctgtagtcccagcact 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(100;169 2668 32720) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007331 CCDS7465.1 10q24.2 2005-09-22 ENSG00000165886 ENSG00000165886 80019 25683 protein-coding gene gene with protein product NA 12477932 Standard NM_024954 NM_024954 NA Approved FLJ11807 uc001knv.1 Q9HAC8 OTTHUMG00000018856 ENST00000370664.3:c.71-21580G>A chr10.hg19:g.99306091G>A NA D3DR57|Q53HI3 hg19 CCDS7465.1 0.02 -0.157902 GTAxTCC UNCOVERED NOVEL UBTD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049701.1 3 2.407941 KEEP 1 0 0 8 289 GG 0 0 0 + 3 60 86 0 0 6.592143 14 60 488 39 ENST00000370664.3 0.176471 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 99582783 99582783 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:99582783T>C NA NA SFRP5 (51074 upstream) : LINC00866 (5451 downstream) NA NA NA ctgtgttgcctaggctggtct 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.99582783T>C NA hg19 0.02 -0.350831 GCCxAGG COVERED NOVEL 0 13 2.407439 KEEP 0 0 0 8 254 TT 0.99257 0.871187 0 3 60 101 0 0 7.209271 29 60 859 64 0.09375 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 100995711 100995711 __UNKNOWN__ IGR SNP G G T rs535197425 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:100995711G>T NA NA HPSE2 (92 upstream) : CNNM1 (93144 downstream) NA NA NA tctctctcccgctctctctct 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.100995711G>T NA hg19 0.02 3.080641 CCCxCTC COVERED NOVEL 0 16 9.206962 KEEP 6 4 126 75 2576 GG 1 0.999978 0 10 60 306 2 1 21.555926 84 70 2632 291 0.106383 0.999978 COX15 1355 __UNKNOWN__ __UNKNOWN__ 10 101473375 101473375 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:101473375C>T ENST00000016171.5 - 0 2252 COX15_ENST00000370483.5_Intron|CUTC_ENST00000493385.1_Intron Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) NA NA cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739) cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) tctcaggaaccaatttatact 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF044323 CCDS7481.1, CCDS7482.1 10q24 2014-09-17 2012-10-15 ENSG00000014919 ENSG00000014919 1355 Mitochondrial respiratory chain complex assembly factors 2263 protein-coding gene gene with protein product 603646 COX15 (yeast) homolog, cytochrome c oxidase assembly protein, COX15 homolog, cytochrome c oxidase assembly protein (yeast) NA 9878253 Standard NP_510870 NM_078470 NA Approved uc001kqb.4 Q7KZN9 OTTHUMG00000018893 ENST00000016171.5:c.*969G>A chr10.hg19:g.101473375C>T NA A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0 hg19 CCDS7482.1 0.02 3.99467 AACxAAT COVERED NOVEL COX15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049818.1 32 74.037656 KEEP 0 0 0 246 8611 CC 1 1 0 - 7 60 210 0 0 12.032341 145 60 4792 547 ENST00000016171.5 0.046053 1 COX15 1355 __UNKNOWN__ __UNKNOWN__ 10 101473633 101473633 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:101473633T>G ENST00000016171.5 - 0 1994 COX15_ENST00000370483.5_Intron|CUTC_ENST00000493385.1_Intron Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) NA NA cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739) cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) ggctgaggcatgagaatcgct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF044323 CCDS7481.1, CCDS7482.1 10q24 2014-09-17 2012-10-15 ENSG00000014919 ENSG00000014919 1355 Mitochondrial respiratory chain complex assembly factors 2263 protein-coding gene gene with protein product 603646 COX15 (yeast) homolog, cytochrome c oxidase assembly protein, COX15 homolog, cytochrome c oxidase assembly protein (yeast) NA 9878253 Standard NP_510870 NM_078470 NA Approved uc001kqb.4 Q7KZN9 OTTHUMG00000018893 ENST00000016171.5:c.*711A>C chr10.hg19:g.101473633T>G NA A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0 hg19 CCDS7482.1 0.02 -0.131547 GCAxGAG COVERED NOVEL COX15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049818.1 5 4.513719 KEEP 0 0 0 15 473 TT 0.99649 0.228369 0 - 3 60 99 0 0 8.173176 11 60 312 31 ENST00000016171.5 0.214286 0.229173 COX15 1355 __UNKNOWN__ __UNKNOWN__ 10 101473718 101473718 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:101473718A>G ENST00000016171.5 - 0 1909 COX15_ENST00000370483.5_Intron|CUTC_ENST00000493385.1_Intron Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) NA NA cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739) cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) acaagagtgaaactctgtctc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF044323 CCDS7481.1, CCDS7482.1 10q24 2014-09-17 2012-10-15 ENSG00000014919 ENSG00000014919 1355 Mitochondrial respiratory chain complex assembly factors 2263 protein-coding gene gene with protein product 603646 COX15 (yeast) homolog, cytochrome c oxidase assembly protein, COX15 homolog, cytochrome c oxidase assembly protein (yeast) NA 9878253 Standard NP_510870 NM_078470 NA Approved uc001kqb.4 Q7KZN9 OTTHUMG00000018893 ENST00000016171.5:c.*626T>C chr10.hg19:g.101473718A>G NA A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0 hg19 CCDS7482.1 0.02 -0.394663 TGAxACT COVERED NOVEL COX15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049818.1 5 6.318463 KEEP 2 0 0 21 670 AA 0.999869 0.926519 0 - 3 60 101 0 0 6.975482 35 60 1045 82 ENST00000016171.5 0.078947 0.92664 COX15 1355 __UNKNOWN__ __UNKNOWN__ 10 101491836 101491836 __UNKNOWN__ 5'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:101491836A>C ENST00000016171.5 - 0 21 COX15_ENST00000370483.5_5'UTR|CUTC_ENST00000493385.1_Intron Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) NA NA cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739) cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) CACCTCTTCCACAACCCAGGG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 34 26 28 NA NA NA 10 NA NA 101491836 2202 4299 6501 SO:0001623 5_prime_UTR_variant AF044323 CCDS7481.1, CCDS7482.1 10q24 2014-09-17 2012-10-15 ENSG00000014919 ENSG00000014919 1355 Mitochondrial respiratory chain complex assembly factors 2263 protein-coding gene gene with protein product 603646 COX15 (yeast) homolog, cytochrome c oxidase assembly protein, COX15 homolog, cytochrome c oxidase assembly protein (yeast) NA 9878253 Standard NP_510870 NM_078470 NA Approved uc001kqb.4 Q7KZN9 OTTHUMG00000018893 ENST00000016171.5:c.-30T>G chr10.hg19:g.101491836A>C NA A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0 hg19 CCDS7482.1 0.02 9.917791 TCCxCAA COVERED NOVEL COX15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049818.1 2 133.257347 KEEP 0 0 0 443 13353 AA 1 1 0 - 81 60 2732 0 0 241.172567 183 60 5336 966 ENST00000016171.5 0.306818 1 ABCC2 1244 __UNKNOWN__ __UNKNOWN__ 10 101554362 101554362 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:101554362T>C ENST00000370449.4 + 6 745 ABCC2_ENST00000496621.1_3'UTR|ABCC2_ENST00000370434.1_Intron NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NA NA cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514) NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541) agtgcaatggtgtgatcttgg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U63970 CCDS7484.1 10q24 2012-03-14 ENSG00000023839 ENSG00000023839 1244 ATP binding cassette transporters / subfamily C 53 protein-coding gene gene with protein product 601107 canalicular multispecific organic anion transporter 1 CMOAT NA 8797578, 9284939 Standard NM_000392 XM_006717630 NA Approved DJS, MRP2, cMRP uc001kqf.2 Q92887 OTTHUMG00000018895 ENST00000370449.4:c.632+137T>C chr10.hg19:g.101554362T>C NA B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2 hg19 CCDS7484.1 0.02 -0.166647 TGGxGTG COVERED NOVEL ABCC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049825.1 2 3.308862 KEEP 0 0 0 11 335 TT 0.993072 0.384723 0 + 3 60 100 0 0 8.078901 13 60 390 39 ENST00000370449.4 0.1875 0.387407 ERLIN1 10613 __UNKNOWN__ __UNKNOWN__ 10 101946943 101946943 __UNKNOWN__ 5'UTR SNP G G C rs536033589 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:101946943G>C ENST00000421367.2 - 0 1148 NM_001100626.1|NM_006459.3 NP_001094096.1|NP_006450.2 O75477 ERLN1_HUMAN ER lipid raft associated 1 NA NA ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234) NA Colorectal(252;0.234) Epithelial(162;3.85e-10)|all cancers(201;3.25e-08) GGAAGTATGGGAAAGCAGTGC 0.562 NA G||| 1 0.000199681 0 0 5008 , , NA 17140 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF064093 CCDS7487.2 10q24.31 2014-03-03 2007-01-26 2007-01-26 ENSG00000107566 ENSG00000107566 10613 16947 protein-coding gene gene with protein product Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9 611604 chromosome 10 open reading frame 69, SPFH domain family, member 1 C10orf69, SPFH1 NA 11118313, 16835267, 24482476 Standard NM_006459 NM_006459 NA Approved KE04, Erlin-1, SPG62 uc001kqo.4 O75477 OTTHUMG00000018900 ENST00000421367.2:c.-1560C>G chr10.hg19:g.101946943G>C NA B0QZ42|Q53HV0 hg19 CCDS7487.2 0.02 1.879841 TGGxAAA COVERED NOVEL ERLIN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049840.2 1 22.270346 KEEP 0 0 0 74 2527 GG 1 0.984161 0 - 7 60 228 0 0 16.925964 50 60 1637 172 ENST00000421367.2 0.122807 0.984161 CWF19L1 55280 __UNKNOWN__ __UNKNOWN__ 10 101996498 101996498 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:101996498A>G ENST00000370379.1 - 5 522 CWF19L1_ENST00000354105.4_Intron|CWF19L1_ENST00000478047.1_Intron Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) NA NA catalytic activity (GO:0003824) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) ctgcactccaacctaggcaac 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001860 CCDS7489.1 10q24.31 2008-11-24 ENSG00000095485 ENSG00000095485 55280 25613 protein-coding gene gene with protein product NA 14702039 Standard NM_018294 NM_018294 NA Approved FLJ10998 uc001kqq.1 Q69YN2 OTTHUMG00000018901 ENST00000370379.1:c.520-977T>C chr10.hg19:g.101996498A>G NA B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13 hg19 0.02 1.962026 CCAxCCT COVERED NOVEL CWF19L1-007 KNOWN basic protein_coding NA protein_coding OTTHUMT00000049849.3 6 3.744812 KEEP 1 1 21 20 655 AA 0.999869 0.987814 0 - 4 60 124 2 0 8.26263 46 60 1352 86 ENST00000370379.1 0.08 0.987943 SEC31B 25956 __UNKNOWN__ __UNKNOWN__ 10 102247972 102247972 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:102247972C>T ENST00000370345.3 - 25 3386 NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) NA NA protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) atcccagcaccttgggaggcc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF274863 CCDS7495.1 10q24.32 2013-01-10 2006-10-05 2006-09-07 ENSG00000075826 ENSG00000075826 25956 WD repeat domain containing 23197 protein-coding gene gene with protein product 610258 SEC31-like 2 (S. cerevisiae) SEC31L2 NA 16495487 Standard NM_015490 NM_015490 NA Approved SEC31B-1, DKFZP434M183 uc001krc.1 Q9NQW1 OTTHUMG00000019342 ENST00000370345.3:c.3289-117G>A chr10.hg19:g.102247972C>T NA B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8 hg19 CCDS7495.1 0.02 -0.298262 CACxTTG COVERED NOVEL SEC31B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051198.1 6 2.407844 KEEP 0 0 0 8 289 CC 0.99257 0.775257 0 - 3 60 96 0 0 6.797824 27 60 920 54 ENST00000370345.3 0.1 0.78106 SEC31B 25956 __UNKNOWN__ __UNKNOWN__ 10 102265084 102265084 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:102265084A>C ENST00000370345.3 - 10 1277 SEC31B_ENST00000451524.1_Intron NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) NA NA protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) cacacacacaaacacacacac 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 133 133 133 NA NA NA 10 NA NA 102265084 2203 4300 6503 SO:0001627 intron_variant AF274863 CCDS7495.1 10q24.32 2013-01-10 2006-10-05 2006-09-07 ENSG00000075826 ENSG00000075826 25956 WD repeat domain containing 23197 protein-coding gene gene with protein product 610258 SEC31-like 2 (S. cerevisiae) SEC31L2 NA 16495487 Standard NM_015490 NM_015490 NA Approved SEC31B-1, DKFZP434M183 uc001krc.1 Q9NQW1 OTTHUMG00000019342 ENST00000370345.3:c.1179+33T>G chr10.hg19:g.102265084A>C NA B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8 hg19 CCDS7495.1 0.02 -0.367672 ACAxACA COVERED NOVEL SEC31B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051198.1 9 6.93767 KEEP 0 1 5 25 750 AA 0.999988 0.909058 0 - 4 60 136 2 0 9.777851 38 60 1065 103 ENST00000370345.3 0.095238 0.909069 SEMA4G 57715 __UNKNOWN__ __UNKNOWN__ 10 102734620 102734620 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:102734620A>G ENST00000210633.3 + 3 414 SEMA4G_ENST00000370250.4_Intron|SEMA4G_ENST00000519756.1_Intron|SEMA4G_ENST00000517724.1_Intron Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872) breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) tgtaatctcaacactttggga 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046839 CCDS7501.1, CCDS55724.1 10q24.31 2013-01-11 ENSG00000095539 ENSG00000095539 57715 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10735 protein-coding gene gene with protein product NA Standard NM_017893 NA Approved FLJ20590, KIAA1619 uc001krw.2 Q9NTN9 OTTHUMG00000018922 ENST00000210633.3:c.336+1254A>G chr10.hg19:g.102734620A>G NA A1A5C6|A6NJY8|Q58EY1|Q9HCF3 hg19 CCDS7501.1 0.02 -0.19293 TCAxCAC COVERED NOVEL SEMA4G-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049919.2 5 2.708223 KEEP 0 0 0 9 284 AA 0.99254 0.454342 0 + 3 60 96 0 0 7.433806 16 60 466 38 ENST00000210633.3 0.157895 0.457757 PDZD7 79955 __UNKNOWN__ __UNKNOWN__ 10 102777203 102777203 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:102777203T>C ENST00000370215.3 - 0 1917 NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 NA NA cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) aggctggtcttaaactcctgg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026862 CCDS31269.1, CCDS73182.1 10q24.32 2006-01-24 2006-01-24 ENSG00000186862 ENSG00000186862 79955 26257 protein-coding gene gene with protein product 612971 PDZK7 NA 12477932 Standard NM_024895 NM_024895 NA Approved FLJ23209, bA108L7.8 uc021pxc.1 Q9H5P4 OTTHUMG00000018916 ENST00000370215.3:c.*138A>G chr10.hg19:g.102777203T>C NA D5FJ77|Q8N321 hg19 CCDS31269.1 0.02 1.57885 TCTxAAA COVERED NOVEL PDZD7-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049883.1 6 7.221055 KEEP 0 0 0 24 720 TT 0.999909 0.999317 0 - 5 60 157 0 0 10.15033 69 60 1886 141 ENST00000370215.3 0.067568 0.999407 BTRC 8945 __UNKNOWN__ __UNKNOWN__ 10 103123429 103123429 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:103123429T>C ENST00000370187.3 + 1 166 BTRC_ENST00000393441.4_Intron|BTRC_ENST00000408038.2_Intron NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) TGAGCCACTGTGCCTGGCCGG 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y14153 CCDS7511.1, CCDS7512.1, CCDS73183.1 10q24.32 2013-01-10 2012-02-23 ENSG00000166167 ENSG00000166167 8945 F-boxes / WD-40 domains, WD repeat domain containing 1144 protein-coding gene gene with protein product 603482 beta-transducin repeat containing NA 9660940, 10331953, 18354483 Standard NM_033637 NM_033637 NA Approved bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1 uc001kta.4 Q9Y297 OTTHUMG00000018932 ENST00000370187.3:c.48+9444T>C chr10.hg19:g.103123429T>C NA B5MD49|Q5W141|Q5W142|Q9Y213 hg19 CCDS7512.1 0.02 -0.263115 CTGxGCC COVERED NOVEL BTRC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000049936.1 4 2.406954 KEEP 0 0 0 8 242 TT 0.99257 0.688515 0 + 3 60 101 0 0 7.442483 24 60 717 53 ENST00000370187.3 0.111111 0.693668 MGEA5 10724 __UNKNOWN__ __UNKNOWN__ 10 103559899 103559899 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:103559899A>G ENST00000361464.3 - 8 1591 MGEA5_ENST00000439817.1_Intron|MGEA5_ENST00000357797.5_Intron|MGEA5_ENST00000370094.3_Intron NM_012215.3 NP_036347.1 O60502 OGA_HUMAN meningioma expressed antigen 5 (hyaluronidase) NA NA aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) caaagtgctgagattacaggt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF036144 CCDS7520.1, CCDS44471.1 10q24.1-q24.3 2008-08-01 ENSG00000198408 ENSG00000198408 10724 7056 protein-coding gene gene with protein product nuclear cytoplasmic O-GlcNAcase and acetyltransferase 604039 NA 9811929, 16356930 Standard NM_012215 NM_012215 NA Approved MEA5, NCOAT, OGA uc001ktv.2 O60502 OTTHUMG00000018939 ENST00000361464.3:c.1195+99T>C chr10.hg19:g.103559899A>G NA B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0 hg19 CCDS7520.1 0.02 1.523004 CTGxGAT COVERED NOVEL MGEA5-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049987.1 3 3.78264 KEEP 1 2 70 37 1206 AA 1 0.998695 0 - 6 60 196 0 0 13.536426 65 60 1956 136 ENST00000361464.3 0.084507 0.998696 CUEDC2 79004 __UNKNOWN__ __UNKNOWN__ 10 104191185 104191185 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:104191185A>G ENST00000369937.4 - 1 136 NM_024040.2 NP_076945.2 Q9H467 CUED2_HUMAN CUE domain containing 2 NA NA cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) acaggcatgaaccaccgcgcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000262 CCDS41566.1 10q24.32 2008-10-23 2004-03-04 2004-03-05 ENSG00000107874 ENSG00000107874 79004 28352 protein-coding gene gene with protein product 614142 chromosome 10 open reading frame 66 C10orf66 NA 12477932 Standard NM_024040 NM_024040 NA Approved MGC2491 uc001kvn.2 Q9H467 OTTHUMG00000018958 ENST00000369937.4:c.9+1097T>C chr10.hg19:g.104191185A>G NA D3DR88|Q9BWG8 hg19 CCDS41566.1 0.02 -0.140308 TGAxCCA COVERED NOVEL CUEDC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050060.1 4 2.407119 KEEP 0 0 0 8 255 AA 0.99257 0.259026 0 - 3 60 107 0 0 8.779054 13 60 359 36 ENST00000369937.4 0.1875 0.260965 WBP1L 54838 __UNKNOWN__ __UNKNOWN__ 10 104567713 104567713 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:104567713T>C ENST00000369889.4 + 3 272 WBP1L_ENST00000448841.1_Intron NM_017787.4 NP_060257.4 Q9NX94 WBP1L_HUMAN WW domain binding protein 1-like NA NA integral component of membrane (GO:0016021) NA cctgtaatcctagcactttgg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056285 CCDS7540.1, CCDS44473.1 10q24.33 2012-05-02 2012-05-02 2012-05-02 ENSG00000166272 ENSG00000166272 54838 23510 protein-coding gene gene with protein product outcome predictor in acute leukemia 1 611129 chromosome 10 open reading frame 26 C10orf26 NA Standard NM_017787 NM_017787 NA Approved FLJ20154, OPAL1 uc001kwf.4 Q9NX94 OTTHUMG00000018968 ENST00000369889.4:c.131-1937T>C chr10.hg19:g.104567713T>C NA B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6 hg19 CCDS7540.1 0.02 -0.201668 TCCxAGC COVERED NOVEL WBP1L-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000050100.1 4 2.707741 KEEP 0 0 0 9 277 TT 0.99254 0.486885 0 + 3 60 102 0 0 7.892561 18 60 509 51 ENST00000369889.4 0.142857 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 104605802 104605802 __UNKNOWN__ IGR SNP C C T rs533594773 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:104605802C>T NA NA CYP17A1 (8512 upstream) : C10orf32 (8177 downstream) NA NA NA tggtggctcacgcctgtaatc 0.468 NA C||| 3 0.000599042 0.0023 0 5008 , , NA 18646 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.104605802C>T NA hg19 0.02 -0.228067 TCAxGCC COVERED NOVEL 0 7 2.708863 KEEP 2 0 0 9 319 CC 0.99254 0.578582 0 3 60 94 0 0 6.849234 22 60 724 53 0.12 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 104606021 104606021 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:104606021A>G NA NA CYP17A1 (8731 upstream) : C10orf32 (7958 downstream) NA NA NA ccgagattgcaccactgcact 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.104606021A>G NA hg19 0.02 -0.271889 TGCxCCA COVERED NOVEL 0 8 3.309843 KEEP 6 0 0 11 342 AA 0.99254 0.711964 0 3 40 94 0 0 6.598493 27 60 807 52 0.1 0.717315 C10orf32 119032 __UNKNOWN__ __UNKNOWN__ 10 104622824 104622824 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:104622824A>G ENST00000339834.5 + 0 528 C10orf32_ENST00000369883.3_Intron|C10orf32-ASMT_ENST00000299353.6_Intron NM_001136200.1|NM_144591.3 NP_001129672.1|NP_653192.2 Q96B45 CJ032_HUMAN chromosome 10 open reading frame 32 NA NA large_intestine(1) 1 all_hematologic(284;0.176)|Colorectal(252;0.207) Epithelial(162;4.32e-09)|all cancers(201;1.14e-07)|BRCA - Breast invasive adenocarcinoma(275;0.217) cgggcgcggtagctcacgcct 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098071 CCDS7542.2 10q24.33 2003-11-21 ENSG00000166275 ENSG00000166275 119032 23516 protein-coding gene gene with protein product NA Standard NM_144591 NM_144591 NA Approved FLJ40752 uc001kwi.2 Q96B45 OTTHUMG00000018975 ENST00000339834.5:c.*143A>G chr10.hg19:g.104622824A>G NA B2R488|B3KUW4|C9K0X3 hg19 CCDS7542.2 0.02 3.517005 GGTxGCT COVERED NOVEL C10orf32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050110.2 12 8.552635 KEEP 1 4 130 74 2209 AA 1 0.999999 0 + 5 60 171 0 0 10.598921 108 60 3048 264 ENST00000339834.5 0.044248 0.999999 CNNM2 54805 __UNKNOWN__ __UNKNOWN__ 10 104687267 104687267 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:104687267G>A ENST00000369878.4 + 1 1809 CNNM2_ENST00000433628.2_Intron|CNNM2_ENST00000369875.3_3'UTR NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin and CBS domain divalent metal cation transport mediator 2 NA NA magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021) adenyl nucleotide binding (GO:0030554) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) ctgtaatcccggcactttggg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF216962 CCDS7543.1, CCDS44474.1, CCDS44475.1 10q24.32 2014-08-08 2014-08-07 ENSG00000148842 ENSG00000148842 54805 103 protein-coding gene gene with protein product 607803 cyclin M2 ACDP2 NA 21393841, 24699222 Standard NM_017649 NM_017649 NA Approved uc001kwm.3 Q9H8M5 OTTHUMG00000018976 ENST00000369878.4:c.1621+7409G>A chr10.hg19:g.104687267G>A NA Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4 hg19 CCDS44474.1 0.02 2.839551 CCCxGCA COVERED NOVEL CNNM2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050113.3 10 8.428894 KEEP 0 6 179 91 3039 GG 1 0.999998 0 + 10 60 291 0 0 19.588223 94 60 2979 253 ENST00000369878.4 0.096154 0.999998 SORCS1 114815 __UNKNOWN__ __UNKNOWN__ 10 108676776 108676776 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:108676776T>C ENST00000263054.6 - 2 634 SORCS1_ENST00000344440.6_Intron NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 NA NA neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|membrane (GO:0016020) neuropeptide receptor activity (GO:0008188) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) gctgggattataggcgtgagc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF284756 CCDS7559.1 10q23-q25 2004-04-20 ENSG00000108018 ENSG00000108018 114815 16697 protein-coding gene gene with protein product 606283 NA 11499680 Standard NM_052918 NM_001206570 NA Approved sorCS1 uc001kyl.3 Q8WY21 OTTHUMG00000019018 ENST00000263054.6:c.626+39494A>G chr10.hg19:g.108676776T>C NA A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2 hg19 CCDS7559.1 0.02 -0.174833 TTAxAGG COVERED NOVEL SORCS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050232.4 7 2.708178 KEEP 0 0 0 9 278 TT 0.99254 0.384517 0 - 3 60 98 0 0 7.885434 13 60 344 38 ENST00000263054.6 0.1875 0.387407 PDCD4 27250 __UNKNOWN__ __UNKNOWN__ 10 112635876 112635876 __UNKNOWN__ Intron SNP A A G rs550323803 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:112635876A>G ENST00000280154.7 + 2 317 PDCD4_ENST00000393104.2_Intron NM_001199492.1|NM_014456.4 NP_001186421.1|NP_055271.2 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) NA NA apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) RNA binding (GO:0003723) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) ttgagacaggatcttgctctg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(115;1498 1603 9363 40056 40885) NA 0 63 56 58 NA NA NA 10 NA NA 112635876 2203 4300 6503 SO:0001627 intron_variant U83908 CCDS7567.1, CCDS44478.1 10q24 2008-08-01 ENSG00000150593 ENSG00000150593 27250 8763 protein-coding gene gene with protein product nuclear antigen H731 608610 NA 9759869 Standard NM_014456 NM_014456 NA Approved H731 uc001kzh.3 Q53EL6 OTTHUMG00000019048 ENST00000280154.7:c.43+48A>G chr10.hg19:g.112635876A>G NA B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834 hg19 CCDS7567.1 0.02 4.073265 AGGxTCT COVERED NOVEL PDCD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050361.1 20 16.847459 KEEP 0 3 106 93 2750 AA 1 0.999978 0 + 6 60 192 0 0 12.408538 88 60 2556 254 ENST00000280154.7 0.06383 0.999978 TCF7L2 6934 __UNKNOWN__ __UNKNOWN__ 10 114861109 114861109 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:114861109T>C ENST00000369397.4 + 5 788 TCF7L2_ENST00000542695.1_Intron|TCF7L2_ENST00000369395.1_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000355995.4_Intron|TCF7L2_ENST00000349937.2_Intron|TCF7L2_ENST00000534894.1_Intron|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000352065.5_Intron NM_001198525.1|NM_001198527.1|NM_001198528.1|NM_030756.4 NP_001185454.1|NP_001185456.1|NP_001185457.1|NP_110383.2 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) NA NA blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) tgagaccagcttgggcaacat 0.488 NA T VTI1A colorectal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 10 10q25.3 6934 transcription factor 7-like 2 E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X62871 CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1 10q25.3 2006-11-24 ENSG00000148737 ENSG00000148737 6934 11641 protein-coding gene gene with protein product 602228 TCF4 NA 1741298 Standard NM_030756 NM_001146283 NA Approved TCF-4 uc001lae.4 Q9NQB0 OTTHUMG00000019070 ENST00000369397.4:c.484-39834T>C chr10.hg19:g.114861109T>C NA B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2 hg19 CCDS7576.1 0.02 -0.350819 AGCxTGG COVERED NOVEL TCF7L2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050413.1 4 2.407629 KEEP 1 0 0 8 266 TT 0.99257 0.871187 0 + 3 60 110 0 0 7.910885 34 60 1022 76 ENST00000369397.4 0.081081 0.877708 CASP7 840 __UNKNOWN__ __UNKNOWN__ 10 115485751 115485751 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:115485751G>A ENST00000345633.4 + 7 936 CASP7_ENST00000369318.3_Intron|CASP7_ENST00000369321.2_Intron|CASP7_ENST00000369315.1_Intron|CASP7_ENST00000369331.4_Intron|CASP7_ENST00000452490.2_Intron NM_033339.4 NP_203125.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234) kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) gaggggtttcgccatgttggc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U37448 CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1 10q25 2006-02-17 2005-08-17 ENSG00000165806 ENSG00000165806 840 Caspases 1508 protein-coding gene gene with protein product 601761 caspase 7, apoptosis-related cysteine protease NA 8521391, 8576161 Standard NM_033338 NM_033338 NA Approved MCH3, CMH-1, ICE-LAP3 uc010qsa.3 P55210 OTTHUMG00000019076 ENST00000345633.4:c.553-313G>A chr10.hg19:g.115485751G>A NA B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0 hg19 CCDS7581.1 0.02 -0.412197 TTCxCCA COVERED . . . . . . . . . . G 0.014 -1.581999 0.00879 . . ENSG00000165806 ENST00000369319;ENST00000369316 . . . 0.628 -0.376 0.12505 . . . . . T 0.17874 0.0429 . . . 0.09310 N 1 . . . . . . T 0.30297 -0.9983 5 0.15499 T 0.54 . 5.0115 0.14315 0.2552:0.0:0.7448:0.0 . . . . H 169 . ENSP00000358322:R169H R + 2 0 CASP7 115475741 0.009000 0.17119 0.000000 0.03702 0.001000 0.01503 0.061000 0.14366 -0.199000 0.10317 -0.459000 0.05422 CGC NOVEL CASP7-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050439.1 2 5.716433 KEEP 1 0 0 19 592 GG 0.99986 0.948269 0 + 4 60 112 0 0 7.214761 42 60 1256 71 ENST00000345633.4 0.086957 0.948402 NHLRC2 374354 __UNKNOWN__ __UNKNOWN__ 10 115673318 115673318 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:115673318A>C ENST00000369301.3 + 0 7416 NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 NA NA breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) TAAAAGTTCTAACGGTTGGTC 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090631 CCDS7585.1 10q26.11 2006-03-31 ENSG00000196865 ENSG00000196865 374354 24731 protein-coding gene gene with protein product NA 12477932 Standard NM_198514 NM_198514 NA Approved FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115 uc001lax.2 Q8NBF2 OTTHUMG00000019078 ENST00000369301.3:c.*5023A>C chr10.hg19:g.115673318A>C NA Q8N1H1|Q8N5A6 hg19 CCDS7585.1 0.02 1.520569 TCTxACG COVERED NOVEL NHLRC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050446.1 4 13.537882 KEEP 0 0 0 45 1347 AA 1 0.999956 0 + 7 60 244 0 0 16.793893 91 60 2524 201 ENST00000369301.3 0.071429 0.999956 NHLRC2 374354 __UNKNOWN__ __UNKNOWN__ 10 115674214 115674214 __UNKNOWN__ 3'UTR SNP G G A rs570541648 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:115674214G>A ENST00000369301.3 + 0 8312 NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 NA NA breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) ggcgtgagccgctgcgcccag 0.483 NA G||| 3 0.000599042 0.0015 0.0014 5008 , , NA 19323 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090631 CCDS7585.1 10q26.11 2006-03-31 ENSG00000196865 ENSG00000196865 374354 24731 protein-coding gene gene with protein product NA 12477932 Standard NM_198514 NM_198514 NA Approved FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115 uc001lax.2 Q8NBF2 OTTHUMG00000019078 ENST00000369301.3:c.*5919G>A chr10.hg19:g.115674214G>A NA Q8N1H1|Q8N5A6 hg19 CCDS7585.1 0.02 1.555492 GCCxCTG COVERED NOVEL NHLRC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050446.1 8 6.616116 KEEP 0 0 0 22 733 GG 0.999879 0.991974 0 + 5 60 139 1 0 8.981635 51 60 1553 107 ENST00000369301.3 0.089286 0.992094 C10orf118 0 __UNKNOWN__ __UNKNOWN__ 10 115881850 115881850 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:115881850G>C ENST00000369287.3 - 0 6015 NM_018017.2 NP_060487.2 Q7Z3E2 CC186_HUMAN NA NA NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) ggattacaggggtgagccacc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000369287.3:c.*3052C>G chr10.hg19:g.115881850G>C NA Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3 hg19 CCDS7587.1 0.02 -0.412288 AGGxGTG COVERED NOVEL C10orf118-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050455.1 5 5.416349 KEEP 0 0 0 18 615 GG 0.99986 0.941609 0 - 3 60 105 0 0 7.176724 41 60 1339 83 ENST00000369287.3 0.068182 0.941741 AFAP1L2 84632 __UNKNOWN__ __UNKNOWN__ 10 116054855 116054855 __UNKNOWN__ 3'UTR SNP G G A rs546676404 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:116054855G>A ENST00000304129.4 - 0 3432 AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000369271.3_3'UTR Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 NA NA inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TTAAGAGGGCGATCACCCTAA 0.348 NA G||| 1 0.000199681 8e-04 0 5008 , , NA 15321 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC024314 CCDS31286.1, CCDS31287.1 10q26.11 2013-01-10 2007-02-07 2007-02-07 ENSG00000169129 ENSG00000169129 84632 Pleckstrin homology (PH) domain containing 25901 protein-coding gene gene with protein product 612420 KIAA1914 KIAA1914 NA 11572484, 17412687 Standard NM_032550 XM_005270239 NA Approved FLJ14564, Em:AC005383.4, XB130 uc001lbn.3 Q8N4X5 OTTHUMG00000019086 ENST00000304129.4:c.*946C>T chr10.hg19:g.116054855G>A NA A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5 hg19 CCDS31286.1 0.02 2.527865 GGCxATC COVERED NOVEL AFAP1L2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050462.1 8 10.532741 KEEP 0 0 0 35 1160 GG 0.999999 0.999998 0 - 6 60 173 0 0 9.686967 121 60 3880 226 ENST00000304129.4 0.047244 1 AFAP1L2 84632 __UNKNOWN__ __UNKNOWN__ 10 116069954 116069954 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:116069954T>G ENST00000304129.4 - 8 912 AFAP1L2_ENST00000369271.3_Intron|AFAP1L2_ENST00000545353.1_Intron Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 NA NA inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) ccaaagtgcttggcttacagg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024314 CCDS31286.1, CCDS31287.1 10q26.11 2013-01-10 2007-02-07 2007-02-07 ENSG00000169129 ENSG00000169129 84632 Pleckstrin homology (PH) domain containing 25901 protein-coding gene gene with protein product 612420 KIAA1914 KIAA1914 NA 11572484, 17412687 Standard NM_032550 XM_005270239 NA Approved FLJ14564, Em:AC005383.4, XB130 uc001lbn.3 Q8N4X5 OTTHUMG00000019086 ENST00000304129.4:c.882+158A>C chr10.hg19:g.116069954T>G NA A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5 hg19 CCDS31286.1 0.02 -0.26304 GCTxGGC COVERED NOVEL AFAP1L2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050462.1 3 3.909248 KEEP 0 0 0 13 367 TT 0.994391 0.689777 0 - 3 60 90 0 0 6.344476 24 60 653 51 ENST00000304129.4 0.111111 0.693668 ABLIM1 3983 __UNKNOWN__ __UNKNOWN__ 10 116215841 116215841 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:116215841A>G ENST00000277895.5 - 13 1539 ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000392952.3_Intron NM_002313.5 NP_002304.3 O14639 ABLM1_HUMAN actin binding LIM protein 1 NA NA axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) actin binding (GO:0003779)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) ccaaagtgctaggattacagg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF005654 CCDS7590.1, CCDS31289.1 10q25 2008-07-07 2002-09-13 ENSG00000099204 ENSG00000099204 3983 78 protein-coding gene gene with protein product 602330 LIMAB1, ABLIM NA 9245787 Standard NM_002313 NA Approved abLIM, limatin uc021pyw.1 O14639 OTTHUMG00000019088 ENST00000277895.5:c.1442-2599T>C chr10.hg19:g.116215841A>G NA A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1 hg19 CCDS7590.1 0.02 -0.219163 GCTxGGA COVERED NOVEL ABLIM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050469.3 6 4.513813 KEEP 5 0 0 15 471 AA 0.994391 0.549786 0 - 3 60 107 0 0 8.392809 18 60 501 65 ENST00000277895.5 0.142857 0.552887 FAM160B1 57700 __UNKNOWN__ __UNKNOWN__ 10 116607092 116607092 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:116607092C>G ENST00000369248.4 + 12 2047 FAM160B1_ENST00000369250.3_Intron NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 NA NA NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 ctgttgcccacgctggagtgc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046820 CCDS31290.1, CCDS44480.1 10q26.11 2008-06-05 2008-06-05 2008-06-05 ENSG00000151553 ENSG00000151553 57700 29320 protein-coding gene gene with protein product KIAA1600 KIAA1600 NA 10997877 Standard XM_049351 NM_020940 NA Approved bA106M7.3 uc001lcb.3 Q5W0V3 OTTHUMG00000019092 ENST00000369248.4:c.1712+100C>G chr10.hg19:g.116607092C>G NA Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2 hg19 CCDS31290.1 0.02 -0.280701 CCAxGCT COVERED NOVEL FAM160B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050499.1 8 2.974603 KEEP 0 0 0 10 300 CC 0.992708 0.755338 0 + 3 60 107 1 0 8.094119 23 60 736 48 ENST00000369248.4 0.115385 0.760887 ATRNL1 26033 __UNKNOWN__ __UNKNOWN__ 10 117500278 117500278 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:117500278G>A ENST00000355044.3 + 27 4029 ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|receptor activity (GO:0004872) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) tagcctcccagagtgctggga 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011106 CCDS7592.1, CCDS73204.1 10q26 2004-03-04 ENSG00000107518 ENSG00000107518 26033 29063 protein-coding gene gene with protein product 612869 NA 9628581 Standard XM_049349 NM_001276282 NA Approved KIAA0534, FLJ45344, ALP uc001lcg.3 Q5VV63 OTTHUMG00000019096 ENST00000355044.3:c.3903+13413G>A chr10.hg19:g.117500278G>A NA O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2 hg19 CCDS7592.1 0.02 -0.315796 CCAxAGT COVERED NOVEL ATRNL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050507.3 12 2.708938 KEEP 0 0 0 9 329 GG 0.99254 0.812359 0 + 4 60 125 1 0 9.233457 27 60 908 66 ENST00000355044.3 0.129032 0.818465 GFRA1 2674 __UNKNOWN__ __UNKNOWN__ 10 117856413 117856413 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:117856413T>C ENST00000355422.6 - 7 1321 GFRA1_ENST00000369236.1_Intron|GFRA1_ENST00000439649.3_Intron|GFRA1_ENST00000544592.1_Intron NM_005264.4 NP_005255.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 NA NA axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886) glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102) endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) cacacacacatacacacaAAA 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(128;329 1725 45498 46808 50759) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF038421 CCDS7593.1, CCDS44481.1 10q25-q26 2011-01-25 ENSG00000151892 ENSG00000151892 2674 4243 protein-coding gene gene with protein product 601496 GDNFRA NA 9465905, 9545641 Standard NM_145793 NM_005264 NA Approved RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1 uc001lcj.3 P56159 OTTHUMG00000019097 ENST00000355422.6:c.771-138A>G chr10.hg19:g.117856413T>C NA A8KA21|O15507|O43912 hg19 CCDS44481.1 0.02 -0.420631 ACAxACA COVERED NOVEL GFRA1-002 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050512.2 6 3.610526 KEEP 1 0 0 12 362 TT 0.993634 0.942364 0 - 8 70 252 0 0 20.052795 35 70 918 71 ENST00000355422.6 0.186047 0.948402 GFRA1 2674 __UNKNOWN__ __UNKNOWN__ 10 117988244 117988244 __UNKNOWN__ Intron SNP T T C rs547931477 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:117988244T>C ENST00000355422.6 - 5 969 GFRA1_ENST00000369236.1_Intron|GFRA1_ENST00000439649.3_Intron|GFRA1_ENST00000544592.1_Intron NM_005264.4 NP_005255.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 NA NA axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886) glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102) endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) cctgtaatcctagcactttgg 0.537 NA T||| 3 0.000599042 0 0 5008 , , NA 14659 0 NA 0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Ovarian(128;329 1725 45498 46808 50759) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF038421 CCDS7593.1, CCDS44481.1 10q25-q26 2011-01-25 ENSG00000151892 ENSG00000151892 2674 4243 protein-coding gene gene with protein product 601496 GDNFRA NA 9465905, 9545641 Standard NM_145793 NM_005264 NA Approved RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1 uc001lcj.3 P56159 OTTHUMG00000019097 ENST00000355422.6:c.419-17087A>G chr10.hg19:g.117988244T>C NA A8KA21|O15507|O43912 hg19 CCDS44481.1 0.02 -0.280642 TCCxAGC UNCOVERED NOVEL GFRA1-002 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050512.2 6 2.406557 KEEP 3 0 0 8 241 TT 0 0 0 - 3 60 99 0 0 7.144573 26 60 753 63 ENST00000355422.6 0.103448 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 118050426 118050426 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:118050426C>T NA NA GFRA1 (17447 upstream) : CCDC172 (33513 downstream) NA NA NA gaacatgcggcatttggtttt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.118050426C>T NA hg19 0.02 -0.236863 CGGxATT COVERED NOVEL 0 5 2.407995 KEEP 1 0 0 8 297 CC 0.99257 0.607857 0 3 52 91 0 0 6.495189 23 60 810 56 0.115385 0.612407 EMX2OS 196047 __UNKNOWN__ __UNKNOWN__ 10 119278382 119278382 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:119278382T>C ENST00000551288.1 - 0 574 EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA NR_002791.2 EMX2 opposite strand/antisense RNA NA NA NA gctgggattataggcatgagc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AY117034 10q26.11 2012-10-19 2012-08-15 2011-11-14 ENSG00000229847 ENSG00000229847 196047 Long non-coding RNAs, - 18511 non-coding RNA RNA, long non-coding non-protein coding RNA 45 607637 empty spiracles homeobox 2 opposite strand, EMX2 opposite strand (non-protein coding), EMX2 opposite strand/antisense RNA (non-protein coding) NA 12573261 Standard NR_002791 NR_002791 NA Approved NCRNA00045, EMX2-AS1 uc001ldg.3 OTTHUMG00000019125 ENST00000551288.1: chr10.hg19:g.119278382T>C NA hg19 0.02 -0.245551 TTAxAGG COVERED NOVEL EMX2OS-006 KNOWN basic antisense NA antisense OTTHUMT00000406746.1 6 2.406816 KEEP 0 0 0 8 237 TT 0.99257 0.636582 0 - 4 60 131 0 0 10.569266 17 60 475 45 ENST00000551288.1 0.190476 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 119365948 119365948 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:119365948T>G NA NA CTA-109P11.1 (33980 upstream) : RP11-328K15.1 (128875 downstream) NA NA NA ctcccaaagttgtgggattac 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.119365948T>G NA hg19 0.02 -0.403438 AGTxGTG COVERED NOVEL 0 13 3.309959 KEEP 1 0 0 11 344 TT 0.993072 0.935217 0 3 60 101 0 0 7.01183 34 60 1003 90 0.081081 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 119365949 119365949 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:119365949G>C NA NA CTA-109P11.1 (33981 upstream) : RP11-328K15.1 (128874 downstream) NA NA NA tcccaaagttgtgggattaca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.119365949G>C NA hg19 0.02 -0.394771 GTTxTGG COVERED NOVEL 0 13 3.310891 KEEP 1 0 0 11 397 GG 0.993072 0.935217 0 3 60 101 0 0 7.048627 33 60 1131 90 0.083333 0.941741 CACUL1 143384 __UNKNOWN__ __UNKNOWN__ 10 120443188 120443188 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:120443188G>C ENST00000369151.3 - 0 4045 CACUL1_ENST00000544392.1_Intron NM_153810.4 NP_722517.3 Q86Y37 CACL1_HUMAN CDK2-associated, cullin domain 1 NA NA G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511) cullin-RING ubiquitin ligase complex (GO:0031461) protein kinase binding (GO:0019901) NA gcctgggtgagagagtgagac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097728 CCDS41570.1 10q26.13 2012-06-12 2012-06-12 2012-06-12 ENSG00000151893 ENSG00000151893 143384 23727 protein-coding gene gene with protein product Cdk-Associated Cullin1 chromosome 10 open reading frame 46 C10orf46 NA 19829063 Standard NM_153810 NM_153810 NA Approved FLJ40409, MGC33215, CAC1 uc001lds.1 Q86Y37 OTTHUMG00000019138 ENST00000369151.3:c.*2452C>G chr10.hg19:g.120443188G>C NA Q5XPL7|Q8IY11|Q8N7S4 hg19 CCDS41570.1 0.02 -0.394726 TGAxAGA COVERED NOVEL CACUL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050612.2 5 2.407784 KEEP 0 0 0 8 277 GG 0.99257 0.934744 0 - 4 60 134 0 0 9.663285 36 60 1192 72 ENST00000369151.3 0.1 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 120693315 120693315 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:120693315C>G NA NA U3 (147840 upstream) : RP11-498J9.2 (69732 downstream) NA NA NA gagcccaggactttgagacca 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.120693315C>G NA hg19 0.02 -0.315806 GGAxTTT COVERED NOVEL 0 11 2.708965 KEEP 0 0 0 9 331 CC 0.99254 0.829482 0 3 60 95 1 0 6.527546 31 60 1082 70 0.088235 0.835716 EIF3A 8661 __UNKNOWN__ __UNKNOWN__ 10 120797700 120797700 __UNKNOWN__ Intron SNP A A G rs570930320 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:120797700A>G ENST00000369144.3 - 20 3856 EIF3A_ENST00000541549.1_Intron NM_003750.2 NP_003741.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 3, subunit A NA NA mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634) ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743) endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) gattacaggcatgagccactg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 41 35 37 NA NA NA 10 NA NA 120797700 2178 4215 6393 SO:0001627 intron_variant U78311 CCDS7608.1 10q26.11 2007-08-03 2007-07-27 2007-07-27 ENSG00000107581 ENSG00000107581 8661 3271 protein-coding gene gene with protein product 602039 eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa EIF3, EIF3S10 NA 9054404, 8590280 Standard NM_003750 NM_003750 NA Approved eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32 uc001ldu.3 Q14152 OTTHUMG00000019144 ENST00000369144.3:c.3728+49T>C chr10.hg19:g.120797700A>G NA B7ZBG9|Q6IBN8|Q96TD5 hg19 CCDS7608.1 0.02 3.690752 GGCxTGA COVERED NOVEL EIF3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050634.1 15 2.876888 KEEP 2 2 64 32 999 AA 0.999998 0.999997 0 - 8 60 209 1 0 12.353009 109 60 3212 202 ENST00000369144.3 0.068376 1 EIF3A 8661 __UNKNOWN__ __UNKNOWN__ 10 120797709 120797709 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:120797709T>C ENST00000369144.3 - 20 3856 EIF3A_ENST00000541549.1_Intron NM_003750.2 NP_003741.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 3, subunit A NA NA mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634) ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743) endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) catgagccactgcgcccggcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 49 42 44 NA NA NA 10 NA NA 120797709 2195 4237 6432 SO:0001627 intron_variant U78311 CCDS7608.1 10q26.11 2007-08-03 2007-07-27 2007-07-27 ENSG00000107581 ENSG00000107581 8661 3271 protein-coding gene gene with protein product 602039 eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa EIF3, EIF3S10 NA 9054404, 8590280 Standard NM_003750 NM_003750 NA Approved eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32 uc001ldu.3 Q14152 OTTHUMG00000019144 ENST00000369144.3:c.3728+40A>G chr10.hg19:g.120797709T>C NA B7ZBG9|Q6IBN8|Q96TD5 hg19 CCDS7608.1 0.02 3.332788 CACxGCG COVERED NOVEL EIF3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050634.1 18 7.053741 KEEP 2 1 36 36 1075 TT 0.999999 0.999999 0 - 8 60 260 0 0 16.666805 126 60 3652 229 ENST00000369144.3 0.059701 1 FAM45A 404636 __UNKNOWN__ __UNKNOWN__ 10 120879053 120879053 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:120879053C>T ENST00000361432.2 + 5 507 FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Intron|FAM45A_ENST00000489988.1_Intron NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A NA NA breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) cctcccaaagcgctgggatta 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF168713 CCDS7609.1 10q25 2008-09-04 ENSG00000119979 ENSG00000119979 404636 31793 protein-coding gene gene with protein product NA Standard NM_207009 NM_207009 NA Approved Q8TCE6 OTTHUMG00000019143 ENST00000361432.2:c.482-800C>T chr10.hg19:g.120879053C>T NA B1AMV6|B4DDC3|D3DRC8|Q9NXW4 hg19 CCDS7609.1 0.02 -0.359636 AAGxGCT COVERED NOVEL FAM45A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050623.1 8 2.66293 KEEP 0 0 0 9 294 CC 0.99254 0.882244 0 + 4 60 109 0 0 7.12327 37 60 1227 59 ENST00000361432.2 0.097561 0.888875 FAM45A 404636 __UNKNOWN__ __UNKNOWN__ 10 120883227 120883227 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:120883227T>C ENST00000361432.2 + 6 720 FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Intron|FAM45A_ENST00000489988.1_Intron NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A NA NA breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) tctcctgccttagcctcccaa 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF168713 CCDS7609.1 10q25 2008-09-04 ENSG00000119979 ENSG00000119979 404636 31793 protein-coding gene gene with protein product NA Standard NM_207009 NM_207009 NA Approved Q8TCE6 OTTHUMG00000019143 ENST00000361432.2:c.694+146T>C chr10.hg19:g.120883227T>C NA B1AMV6|B4DDC3|D3DRC8|Q9NXW4 hg19 CCDS7609.1 0.02 -0.254318 CCTxAGC COVERED NOVEL FAM45A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050623.1 6 4.504154 KEEP 0 0 0 15 446 TT 0.997832 0.667074 0 + 3 60 96 0 0 6.893348 25 60 708 58 ENST00000361432.2 0.107143 0.668523 FAM45A 404636 __UNKNOWN__ __UNKNOWN__ 10 120895868 120895868 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:120895868A>C ENST00000361432.2 + 9 923 FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Intron|FAM45A_ENST00000489988.1_Intron NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A NA NA breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) ccaccacgccaagctcatttt 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF168713 CCDS7609.1 10q25 2008-09-04 ENSG00000119979 ENSG00000119979 404636 31793 protein-coding gene gene with protein product NA Standard NM_207009 NM_207009 NA Approved Q8TCE6 OTTHUMG00000019143 ENST00000361432.2:c.898-115A>C chr10.hg19:g.120895868A>C NA B1AMV6|B4DDC3|D3DRC8|Q9NXW4 hg19 CCDS7609.1 0.02 -0.429716 GCCxAGC COVERED NOVEL FAM45A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050623.1 4 7.22113 KEEP 0 0 0 24 741 AA 0.999909 0.954405 0 + 3 60 99 0 0 6.489273 44 60 1298 91 ENST00000361432.2 0.06383 0.954491 PRDX3 10935 __UNKNOWN__ __UNKNOWN__ 10 120931750 120931750 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:120931750A>G ENST00000298510.2 - 5 594 PRDX3_ENST00000356951.3_Intron NM_006793.2 NP_006784.1 P30048 PRDX3_HUMAN peroxiredoxin 3 NA NA cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979) cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379) endometrium(1)|lung(2) 3 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0245) ccaaagtgctacgattacagg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(36;562 1096 2447 42526) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D49396 CCDS7611.1 10q25-q26 2010-11-24 ENSG00000165672 ENSG00000165672 10935 9354 protein-coding gene gene with protein product 604769 antioxidant protein 1 AOP1 NA 7733872, 9363753 Standard NM_006793 NM_006793 NA Approved MER5, AOP-1, SP-22 uc001lec.3 P30048 OTTHUMG00000019146 ENST00000298510.2:c.551+143T>C chr10.hg19:g.120931750A>G NA B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4 hg19 CCDS7611.1 0.02 -0.35074 GCTxCGA COVERED NOVEL PRDX3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050639.1 4 2.707882 KEEP 0 0 0 9 271 AA 0.99254 0.87116 0 - 5 60 162 0 0 12.717954 25 60 691 68 ENST00000298510.2 0.166667 0.877708 GRK5 2869 __UNKNOWN__ __UNKNOWN__ 10 121167423 121167423 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:121167423T>C ENST00000392870.2 + 4 668 GRK5_ENST00000369108.3_Intron NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674) endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) cgcctgtaattccagcacttt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L15388 CCDS7612.1 10q26.11 2013-09-19 2004-02-04 2004-02-06 ENSG00000198873 ENSG00000198873 2869 4544 protein-coding gene gene with protein product 600870 GPRK5 NA 7685906 Standard NM_005308 NM_005308 NA Approved uc001led.3 P34947 OTTHUMG00000019149 ENST00000392870.2:c.339+11139T>C chr10.hg19:g.121167423T>C NA D3DRD0|Q5T059 hg19 CCDS7612.1 0.02 -0.412227 AATxCCA COVERED NOVEL GRK5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050652.2 7 3.310216 KEEP 0 0 0 11 354 TT 0.993072 0.941832 0 + 3 60 105 0 0 7.27217 38 60 1144 84 ENST00000392870.2 0.073171 0.948402 INPP5F 22876 __UNKNOWN__ __UNKNOWN__ 10 121588352 121588352 __UNKNOWN__ 3'UTR SNP G G C rs137914654 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:121588352G>C ENST00000361976.2 + 0 4625 NM_014937.3 NP_055752.1 Q01968 OCRL_HUMAN inositol polyphosphate-5-phosphatase F NA NA cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) gagcaagaccgtgtctcaaaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023183 CCDS7616.1, CCDS58098.1 10q26.13 2009-02-03 ENSG00000198825 ENSG00000198825 22876 17054 protein-coding gene gene with protein product 609389 NA 10231032, 11274189 Standard NM_014937 NM_014937 NA Approved SAC2, KIAA0966, hSac2 uc001leo.3 Q9Y2H2 OTTHUMG00000019158 ENST00000361976.2:c.*1060G>C chr10.hg19:g.121588352G>C NA A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5 hg19 CCDS7616.1 0.02 -0.359617 ACCxTGT COVERED NOVEL INPP5F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050679.1 5 2.708533 KEEP 0 0 0 9 301 GG 0.99254 0.882244 0 + 4 60 140 1 0 10.508145 31 60 986 61 ENST00000361976.2 0.114286 0.888875 MCMBP 79892 __UNKNOWN__ __UNKNOWN__ 10 121624845 121624845 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:121624845C>T ENST00000369077.3 - 2 323 MCMBP_ENST00000466047.1_Intron|MCMBP_ENST00000360003.3_Intron Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein NA NA DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) chromatin binding (GO:0003682) breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 ggcttatgcccgtaatcccag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007219 CCDS7617.1, CCDS58099.1 10q26.13 2013-10-11 2011-01-05 2011-01-05 ENSG00000197771 ENSG00000197771 79892 25782 protein-coding gene gene with protein product 610909 chromosome 10 open reading frame 119 C10orf119 NA 17296731 Standard NM_024834 NM_024834 NA Approved FLJ13081, MCM-BP uc001ler.3 Q9BTE3 OTTHUMG00000019159 ENST00000369077.3:c.59-5449G>A chr10.hg19:g.121624845C>T NA B3KSP7|Q6IA56|Q9BVT9|Q9H916 hg19 CCDS58099.1 0.02 -0.262272 GCCxGTA COVERED NOVEL MCMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050683.1 5 2.407792 KEEP 0 0 0 8 277 CC 0.99257 0.711986 0 - 3 60 94 0 0 6.698021 25 60 762 57 ENST00000369077.3 0.107143 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 122117008 122117008 __UNKNOWN__ IGR SNP T T C rs529682694 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:122117008T>C NA NA AL353664.1 (233270 upstream) : PPAPDC1A (99457 downstream) NA NA NA cccgcctcggtctccgaaagt 0.507 NA T||| 2 0.000399361 0 0 5008 , , NA 11628 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.122117008T>C NA hg19 0.02 -0.236807 CGGxCTC COVERED NOVEL 0 3 3.309943 KEEP 0 0 0 11 342 TT 0.993072 0.608164 0 3 60 101 0 0 7.605705 21 60 617 59 0.125 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 122117023 122117023 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:122117023A>G NA NA AL353664.1 (233285 upstream) : PPAPDC1A (99442 downstream) NA NA NA gaaagtgctgagattacaggt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.122117023A>G NA hg19 0.02 -0.25436 CTGxGAT COVERED NOVEL 0 3 3.611328 KEEP 0 0 0 12 390 AA 0.993634 0.664267 0 3 60 103 0 0 7.694373 23 60 694 63 0.115385 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 123158377 123158377 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:123158377A>G NA NA RP11-159H3.2 (212897 upstream) : RN7SKP167 (12052 downstream) NA NA NA ttacaggcgtaagccaccatg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.123158377A>G NA hg19 0.02 -0.341965 CGTxAGC COVERED NOVEL 0 7 2.406692 KEEP 0 0 0 8 233 AA 0.99257 0.871187 0 3 60 99 0 0 6.812504 34 60 932 71 0.081081 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 123206279 123206279 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:123206279T>C NA NA RN7SKP167 (35565 upstream) : FGFR2 (31568 downstream) NA NA NA gtgggccgggtgtggtggctc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.123206279T>C NA hg19 0.02 -0.438405 GGGxGTG COVERED NOVEL 0 11 2.707009 KEEP 4 0 0 9 263 TT 0.99254 0.952699 0 3 60 101 0 0 6.718503 43 60 1196 91 0.065217 0.959859 FGFR2 2263 __UNKNOWN__ __UNKNOWN__ 10 123238457 123238457 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:123238457G>A ENST00000358487.5 - 0 3652 FGFR2_ENST00000357555.5_3'UTR|FGFR2_ENST00000369061.4_3'UTR|FGFR2_ENST00000478859.1_3'UTR NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847) cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041) TTGCGTTGACGTAATGACAGG 0.423 5 Mis gastric. NSCLC, endometrial Crouzon, Pfeiffer, and Apert syndromes Saethre-Chotzen syndrome;Apert syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 10 10q26 2263 fibroblast growth factor receptor 2 yes E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s. AK026508 CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1 10q25.3-q26 2013-01-11 2008-08-01 ENSG00000066468 ENSG00000066468 2263 CD molecules, Immunoglobulin superfamily / I-set domain containing 3689 protein-coding gene gene with protein product Crouzon syndrome, Pfeiffer syndrome 176943 bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Jackson-Weiss syndrome KGFR, BEK, CFD1, JWS NA Standard NM_022976, NM_000141 NM_022970 NA Approved CEK3, TK14, TK25, ECT1, K-SAM, CD332 uc021pzy.1 P21802 OTTHUMG00000019175 ENST00000358487.5:c.*914C>T chr10.hg19:g.123238457G>A NA B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0 hg19 CCDS31298.1 0.02 -0.412223 GACxTAA COVERED NOVEL FGFR2-001 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000050715.1 1 7.222596 KEEP 0 0 0 24 806 GG 0.999909 0.941656 0 - 4 60 117 0 0 7.673321 43 60 1335 89 ENST00000358487.5 0.085106 0.941741 FGFR2 2263 __UNKNOWN__ __UNKNOWN__ 10 123241542 123241542 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:123241542A>G ENST00000457416.2 - 17 2896 FGFR2_ENST00000346997.2_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000351936.6_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000358487.5_Intron|FGFR2_ENST00000360144.3_3'UTR|FGFR2_ENST00000478859.1_Intron|FGFR2_ENST00000369056.1_3'UTR NM_022970.3 NP_075259.4 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847) cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041) tagtagagacagggtttcacc 0.562 5 Mis gastric. NSCLC, endometrial Crouzon, Pfeiffer, and Apert syndromes Saethre-Chotzen syndrome;Apert syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 10 10q26 2263 fibroblast growth factor receptor 2 yes E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s. AK026508 CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1 10q25.3-q26 2013-01-11 2008-08-01 ENSG00000066468 ENSG00000066468 2263 CD molecules, Immunoglobulin superfamily / I-set domain containing 3689 protein-coding gene gene with protein product Crouzon syndrome, Pfeiffer syndrome 176943 bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Jackson-Weiss syndrome KGFR, BEK, CFD1, JWS NA Standard NM_022976, NM_000141 NM_022970 NA Approved CEK3, TK14, TK25, ECT1, K-SAM, CD332 uc021pzy.1 P21802 OTTHUMG00000019175 ENST00000457416.2:c.2304+1669T>C chr10.hg19:g.123241542A>G NA B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0 hg19 CCDS7620.2 0.02 1.283442 GACxGGG COVERED NOVEL FGFR2-010 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050724.1 8 13.774465 KEEP 4 1 35 58 1774 AA 1 0.999881 0 - 5 60 142 1 0 8.242168 84 60 2457 159 ENST00000457416.2 0.05618 0.999881 BTBD16 118663 __UNKNOWN__ __UNKNOWN__ 10 124094321 124094321 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:124094321A>G ENST00000260723.4 + 14 1415 BTBD16_ENST00000368994.2_Intron|BTBD16_ENST00000495370.2_Intron NM_144587.2 NP_653188.2 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 NA NA breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) acaggtgtgaaccaccacgcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK058088 CCDS31301.1 10q26.13 2013-01-24 2006-07-04 2006-07-04 ENSG00000138152 ENSG00000138152 118663 BTB/POZ domain containing 26340 protein-coding gene gene with protein product chromosome 10 open reading frame 87 C10orf87 NA Standard NM_144587 NM_144587 NA Approved FLJ25359, Em:AC061711.1 uc001lgc.1 Q32M84 OTTHUMG00000019182 ENST00000260723.4:c.1165-75A>G chr10.hg19:g.124094321A>G NA A6NM63|Q4VXL1|Q96LN0 hg19 CCDS31301.1 0.02 7.821655 TGAxCCA COVERED NOVEL BTBD16-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000050780.3 52 2.61325 KEEP 1 3 104 45 1429 AA 1 1 0 + 7 60 248 0 1 14.960534 194 60 5613 394 ENST00000260723.4 0.034826 1 PLEKHA1 59338 __UNKNOWN__ __UNKNOWN__ 10 124190884 124190884 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:124190884T>C ENST00000368990.3 + 0 2776 PLEKHA1_ENST00000368988.1_3'UTR|PLEKHA1_ENST00000368989.2_3'UTR|PLEKHA1_ENST00000433307.1_3'UTR NM_001001974.2 NP_001001974.1 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 NA NA androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) gatccacccatctcagcctcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF286160 CCDS7629.1, CCDS55730.1 10q26.3 2013-01-10 2002-01-14 ENSG00000107679 ENSG00000107679 59338 Pleckstrin homology (PH) domain containing 14335 protein-coding gene gene with protein product tandem PH domain containing protein-1 607772 pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1 NA 11001876, 15485858 Standard NM_001001974 NM_001001974 NA Approved TAPP1 uc001lge.2 Q9HB21 OTTHUMG00000019184 ENST00000368990.3:c.*1430T>C chr10.hg19:g.124190884T>C NA B3KQ55|D3DRE2|Q9BVK0 hg19 CCDS7629.1 0.02 -0.324309 CCAxCTC COVERED NOVEL PLEKHA1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050783.1 8 2.706916 KEEP 1 0 0 9 269 TT 0.99254 0.829482 0 + 3 60 107 1 0 7.76778 30 60 863 59 ENST00000368990.3 0.090909 0.835716 ACADSB 36 __UNKNOWN__ __UNKNOWN__ 10 124813815 124813815 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:124813815G>C ENST00000358776.4 + 0 1847 NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167)|Valproic Acid(DB00313) ggattacagggatgagccacc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U12778 CCDS7634.1 10q25-q26 2014-09-17 2010-04-30 ENSG00000196177 ENSG00000196177 36 1.3.99.- 91 protein-coding gene gene with protein product 600301 acyl-Coenzyme A dehydrogenase, short/branched chain NA 7698750, 7759115 Standard NM_001609 NM_001609 NA Approved SBCAD, ACAD7 uc001lhb.3 P45954 OTTHUMG00000019200 ENST00000358776.4:c.*534G>C chr10.hg19:g.124813815G>C NA B4DQ51|Q5SQN6|Q96CX7 hg19 CCDS7634.1 0.02 1.543514 AGGxATG COVERED NOVEL ACADSB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050843.1 19 6.922359 KEEP 0 0 0 23 794 GG 0.999909 0.999771 0 + 4 60 133 0 0 8.362298 74 60 2406 148 ENST00000358776.4 0.051282 0.999862 ACADSB 36 __UNKNOWN__ __UNKNOWN__ 10 124813816 124813816 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:124813816A>G ENST00000358776.4 + 0 1848 NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167)|Valproic Acid(DB00313) gattacagggatgagccaccg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U12778 CCDS7634.1 10q25-q26 2014-09-17 2010-04-30 ENSG00000196177 ENSG00000196177 36 1.3.99.- 91 protein-coding gene gene with protein product 600301 acyl-Coenzyme A dehydrogenase, short/branched chain NA 7698750, 7759115 Standard NM_001609 NM_001609 NA Approved SBCAD, ACAD7 uc001lhb.3 P45954 OTTHUMG00000019200 ENST00000358776.4:c.*535A>G chr10.hg19:g.124813816A>G NA B4DQ51|Q5SQN6|Q96CX7 hg19 CCDS7634.1 0.02 1.681563 GGGxTGA COVERED NOVEL ACADSB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050843.1 19 2.945314 KEEP 0 1 38 23 737 AA 0.999909 0.99979 0 + 4 60 135 0 0 8.494554 77 60 2211 151 ENST00000358776.4 0.049383 0.999881 ACADSB 36 __UNKNOWN__ __UNKNOWN__ 10 124815367 124815367 __UNKNOWN__ 3'UTR SNP G G A rs150796883 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:124815367G>A ENST00000358776.4 + 0 3399 NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167)|Valproic Acid(DB00313) tctcaagttcgaagttccaca 0.428 NA G||| 17 0.00339457 0.0121 0 5008 , , NA 19813 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U12778 CCDS7634.1 10q25-q26 2014-09-17 2010-04-30 ENSG00000196177 ENSG00000196177 36 1.3.99.- 91 protein-coding gene gene with protein product 600301 acyl-Coenzyme A dehydrogenase, short/branched chain NA 7698750, 7759115 Standard NM_001609 NM_001609 NA Approved SBCAD, ACAD7 uc001lhb.3 P45954 OTTHUMG00000019200 ENST00000358776.4:c.*2086G>A chr10.hg19:g.124815367G>A NA B4DQ51|Q5SQN6|Q96CX7 hg19 CCDS7634.1 0.02 7.314383 TTCxAAG COVERED NOVEL ACADSB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050843.1 31 15.819 KEEP 0 2 64 75 2519 GG 1 1 0 + 10 60 292 1 0 15.923207 232 70 7428 473 ENST00000358776.4 0.041322 1 CPXM2 119587 __UNKNOWN__ __UNKNOWN__ 10 125602972 125602972 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:125602972C>T ENST00000241305.3 - 4 668 CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 NA NA cell adhesion (GO:0007155) extracellular space (GO:0005615) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) ttttttgagacggagtctcgc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY358565 CCDS7637.1 10q26 2012-02-10 ENSG00000121898 ENSG00000121898 119587 26977 protein-coding gene gene with protein product cytosolic carboxypeptidase NA 12975309 Standard NM_198148 NM_198148 NA Approved UNQ676, CPX2 uc001lhk.1 Q8N436 OTTHUMG00000019206 ENST00000241305.3:c.514-968G>A chr10.hg19:g.125602972C>T NA B4E3Q2 hg19 CCDS7637.1 0.02 3.043756 AGAxGGA COVERED NOVEL CPXM2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050853.1 5 6.048803 KEEP 1 1 34 32 983 CC 0.999998 0.999988 0 - 5 60 156 2 0 10.044631 69 70 2124 147 ENST00000241305.3 0.067568 0.999991 CPXM2 119587 __UNKNOWN__ __UNKNOWN__ 10 125602988 125602988 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:125602988T>C ENST00000241305.3 - 4 668 CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 NA NA cell adhesion (GO:0007155) extracellular space (GO:0005615) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) ctcgctctgttgcccaggctg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY358565 CCDS7637.1 10q26 2012-02-10 ENSG00000121898 ENSG00000121898 119587 26977 protein-coding gene gene with protein product cytosolic carboxypeptidase NA 12975309 Standard NM_198148 NM_198148 NA Approved UNQ676, CPX2 uc001lhk.1 Q8N436 OTTHUMG00000019206 ENST00000241305.3:c.514-984A>G chr10.hg19:g.125602988T>C NA B4E3Q2 hg19 CCDS7637.1 0.02 1.625538 TGTxGCC COVERED NOVEL CPXM2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050853.1 5 3.144135 KEEP 1 1 36 23 703 TT 0.999909 0.999635 0 - 4 60 125 1 1 8.002146 57 70 1710 117 ENST00000241305.3 0.065574 0.999726 OAT 4942 __UNKNOWN__ __UNKNOWN__ 10 126090499 126090499 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:126090499T>G ENST00000368845.5 - 8 993 OAT_ENST00000467675.1_Intron|OAT_ENST00000539214.1_Intron NM_000274.3 NP_000265.1 P04181 OAT_HUMAN ornithine aminotransferase NA NA cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170) endometrium(2)|large_intestine(1)|lung(2) 5 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129) cacccaggcttgagtgcagtg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016928 CCDS7639.1, CCDS53586.1 10q26 2014-09-17 2010-01-20 ENSG00000065154 ENSG00000065154 4942 2.6.1.13 8091 protein-coding gene gene with protein product Ornithine aminotransferase, ornithine aminotransferase precursor, gyrate atrophy 613349 NA 1682785 Standard NM_000274 NM_000274 NA Approved HOGA uc001lhp.3 P04181 OTTHUMG00000019213 ENST00000368845.5:c.901-91A>C chr10.hg19:g.126090499T>G NA D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03 hg19 CCDS7639.1 0.02 5.640353 GCTxGAG COVERED NOVEL OAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050863.1 16 15.749269 KEEP 1 3 102 88 2747 TT 1 1 0 - 15 70 495 1 0 35.357695 138 60 4081 353 ENST00000368845.5 0.098039 1 OAT 4942 __UNKNOWN__ __UNKNOWN__ 10 126090512 126090512 __UNKNOWN__ Intron SNP G G A rs564623430 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:126090512G>A ENST00000368845.5 - 8 993 OAT_ENST00000467675.1_Intron|OAT_ENST00000539214.1_Intron NM_000274.3 NP_000265.1 P04181 OAT_HUMAN ornithine aminotransferase NA NA cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170) endometrium(2)|large_intestine(1)|lung(2) 5 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129) gtgcagtggcgtgatctcagc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016928 CCDS7639.1, CCDS53586.1 10q26 2014-09-17 2010-01-20 ENSG00000065154 ENSG00000065154 4942 2.6.1.13 8091 protein-coding gene gene with protein product Ornithine aminotransferase, ornithine aminotransferase precursor, gyrate atrophy 613349 NA 1682785 Standard NM_000274 NM_000274 NA Approved HOGA uc001lhp.3 P04181 OTTHUMG00000019213 ENST00000368845.5:c.901-104C>T chr10.hg19:g.126090512G>A NA D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03 hg19 CCDS7639.1 0.02 3.850769 GGCxTGA COVERED NOVEL OAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050863.1 13 19.191653 KEEP 1 1 32 75 2546 GG 1 1 0 - 7 60 191 0 0 10.587761 125 60 4063 278 ENST00000368845.5 0.05303 1 METTL10 399818 __UNKNOWN__ __UNKNOWN__ 10 126450952 126450952 __UNKNOWN__ Silent SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:126450952C>A ENST00000368836.2 - 6 828 c.792G>T c.(790-792)ctG>ctT p.L264L RP11-12J10.3_ENST00000494792.1_Intron NM_212554.2 NP_997719.2 Q5JPI9 MET10_HUMAN methyltransferase like 10 264 NA methyltransferase activity (GO:0008168) endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111) ccaggagttccagaccagcct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 23 24 23 NA NA NA 10 NA NA 126450952 1327 2309 3636 SO:0001819 synonymous_variant CCDS31307.1 10q26.13 2010-01-15 ENSG00000203791 ENSG00000203791 399818 33787 protein-coding gene gene with protein product chromosome 10 open reading frame 138 C10orf138 NA Standard NM_212554 NM_212554 NA Approved Em:AC068896.3 uc001lhy.1 Q5JPI9 OTTHUMG00000019217 ENST00000368836.2:c.792G>T chr10.hg19:g.126450952C>A NA A8MPY7 hg19 CCDS31307.1 0.02 2.450823 TTCxAGA COVERED NOVEL METTL10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050884.1 16 8.095117 KEEP 0 2 63 49 1725 CC 1 1 0 - 6 60 170 0 0 9.291023 126 60 4207 234 ENST00000368836.2 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 127216936 127216936 __UNKNOWN__ IGR SNP T T C rs187696636 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:127216936T>C NA NA CTBP2 (367197 upstream) : RP11-118H17.1 (46003 downstream) NA NA NA cctcggcctctcaaagtgctg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.127216936T>C NA hg19 0.02 -0.219291 CTCxCAA UNCOVERED NOVEL 0 5 2.406834 KEEP 1 0 0 8 246 TT 0 0 0 4 60 141 0 0 11.568466 17 60 524 53 0.190476 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 127216957 127216957 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:127216957T>C NA NA CTBP2 (367218 upstream) : RP11-118H17.1 (45982 downstream) NA NA NA ggattacaggtgtgagccacc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.127216957T>C NA hg19 0.02 -0.26307 AGGxGTG COVERED NOVEL 0 6 2.706846 KEEP 1 0 0 9 263 TT 0.99257 0.711986 0 5 60 171 0 0 14.05436 20 60 585 63 0.2 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 127580060 127580060 __UNKNOWN__ IGR SNP G G A rs77023510 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:127580060G>A NA NA RNU2-42P (813 upstream) : FANK1 (5047 downstream) NA NA NA tggaatcccagcactttggaa 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.127580060G>A NA hg19 0.02 1.312683 CCAxCAC COVERED NOVEL 0 22 4.816013 KEEP 0 0 0 16 596 GG 0.997832 0.997794 0 7 60 204 0 0 14.006428 60 60 2066 165 0.104478 0.999962 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127585302 127585302 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:127585302C>T ENST00000368695.1 + 1 117 FANK1_ENST00000368693.1_Intron|FANK1_ENST00000449042.2_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) TGTGGGCGCCCCGCGCGCGAC 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 6 13 11 NA NA NA 10 NA NA 127585302 673 1574 2247 SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.-6+78C>T chr10.hg19:g.127585302C>T NA Q6UXY9|Q6X7T6 hg19 0.02 4.259443 GCCxCGC COVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 2 4.154667 KEEP 0 3 91 46 1554 CC 1 1 0 + 12 60 350 0 0 25.156404 82 60 2678 291 ENST00000368695.1 0.12766 1 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127589346 127589346 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:127589346A>G ENST00000368695.1 + 1 117 FANK1_ENST00000368693.1_Intron|FANK1_ENST00000449042.2_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) tcagcctcccaagtagctggg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.-6+4122A>G chr10.hg19:g.127589346A>G NA Q6UXY9|Q6X7T6 hg19 0.02 -0.34201 CCCxAGT COVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 15 3.008365 KEEP 4 0 0 10 303 AA 0.99257 0.859313 0 + 3 45 93 0 0 6.368875 30 60 870 71 ENST00000368695.1 0.090909 0.865745 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127593811 127593811 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:127593811C>T ENST00000368695.1 + 1 117 FANK1_ENST00000368693.1_Intron|FANK1_ENST00000449042.2_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) agccactgcactccagcctgg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.-6+8587C>T chr10.hg19:g.127593811C>T NA Q6UXY9|Q6X7T6 hg19 0.02 1.111422 GCAxTCC COVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 45 2.442998 KEEP 6 1 31 19 695 CC 0.99986 0.999664 0 + 4 60 120 2 0 7.860328 46 60 1559 153 ENST00000368695.1 0.08 0.999804 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127606446 127606446 __UNKNOWN__ Intron SNP G G A rs375522470 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:127606446G>A ENST00000368695.1 + 1 117 FANK1_ENST00000368693.1_Intron|FANK1_ENST00000449042.2_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) cagcccaagagttcaagacca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.-6+21222G>A chr10.hg19:g.127606446G>A NA Q6UXY9|Q6X7T6 hg19 0.02 -0.368369 AGAxTTC COVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 11 2.407501 KEEP 0 0 0 8 273 GG 0.99257 0.892632 0 + 4 60 105 0 0 7.02599 31 60 1062 74 ENST00000368695.1 0.114286 0.899314 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127608053 127608053 __UNKNOWN__ Intron SNP G G A rs75425564 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:127608053G>A ENST00000368695.1 + 1 117 FANK1_ENST00000368693.1_Intron|FANK1_ENST00000449042.2_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) gggattacaggtgtgagccac 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.-6+22829G>A chr10.hg19:g.127608053G>A NA Q6UXY9|Q6X7T6 hg19 0.02 1.458835 CAGxTGT COVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 23 2.707941 KEEP 6 0 0 9 305 GG 0.99254 0.990453 0 + 5 60 153 0 0 10.586731 46 60 1496 126 ENST00000368695.1 0.098039 0.997898 FOXI2 399823 __UNKNOWN__ __UNKNOWN__ 10 129539074 129539074 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:129539074C>T ENST00000388920.4 + 0 2841 NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) tgtgtgtgtgcgtgtgtgcgt 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(54;1038 1280 2528 31583) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK128865 CCDS7655.2 10q26.2 2008-04-10 ENSG00000186766 ENSG00000186766 399823 Forkhead boxes 32448 protein-coding gene gene with protein product NA Standard NM_207426 NM_207426 NA Approved FLJ46831 uc009yas.2 Q6ZQN5 OTTHUMG00000019250 ENST00000388920.4:c.*1845C>T chr10.hg19:g.129539074C>T NA hg19 CCDS7655.2 0.02 1.564013 GTGxGTG COVERED NOVEL FOXI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050984.2 8 2.943935 KEEP 0 1 17 16 519 CC 0.999366 0.987317 0 + 7 60 205 0 2 14.625735 50 70 1605 109 ENST00000388920.4 0.122807 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 133168085 133168085 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:133168085A>G NA NA TCERG1L (58101 upstream) : AL450307.2 (321429 downstream) NA NA NA gattacaggcatgagccacca 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.133168085A>G NA hg19 0.02 -0.175396 GGCxTGA COVERED NOVEL 0 13 2.707902 KEEP 5 0 0 9 276 AA 0.99257 0.420331 0 4 60 137 0 0 11.58142 13 60 374 46 0.235294 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 135455935 135455935 __UNKNOWN__ IGR SNP A A C rs150933442 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:135455935A>C NA NA FRG2B (15636 upstream) : AL845259.1 (17148 downstream) NA NA NA GTTGGAAAGAAGAAAAGGATT 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.135455935A>C NA hg19 0.02 -0.113986 AGAxGAA UNCOVERED NOVEL 0 1 3.309196 KEEP 12 0 0 11 333 AA 0 0 0 4 40 121 0 0 10.524577 9 27 247 37 0.307692 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 135504418 135504418 __UNKNOWN__ IGR SNP C C G rs200968563 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr10:135504418C>G NA NA AL845259.1 (31239 upstream) : None (None downstream) NA NA NA cctcgtgatccgctagcctcg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.135504418C>G NA hg19 0.02 -0.219235 ATCxGCT COVERED NOVEL 0 3 2.708784 KEEP 1 0 0 9 313 CC 0.99254 0.548763 0 4 60 127 0 0 10.363412 15 60 462 50 0.210526 0.552887 AP006621.5 0 __UNKNOWN__ __UNKNOWN__ 11 784191 784191 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:784191G>C ENST00000525941.1 + 0 504 NA NA NA aatcccagcagtttgggaggc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000525941.1:c.*501G>C chr11.hg19:g.784191G>C NA hg19 0.02 1.473203 GCAxTTT COVERED NOVEL AP006621.5-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000382843.1 8 22.406347 KEEP 0 1 36 87 3028 GG 1 0.999895 0 + 7 60 235 0 0 16.127064 84 60 2827 225 ENST00000525941.1 0.076923 0.999895 CD151 977 __UNKNOWN__ __UNKNOWN__ 11 835612 835612 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:835612C>G ENST00000397420.3 + 3 242 CD151_ENST00000397421.1_Intron|CD151_ENST00000322008.4_Intron P48509 CD151_HUMAN CD151 molecule (Raph blood group) NA NA cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098) cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) integrin binding (GO:0005178) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) aaagtgctggcattataggca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(14;501 559 15826 37823 38305) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL161965, BC013302, D29963 CCDS7719.1 11p15.5 2014-07-18 2006-03-28 ENSG00000177697 ENSG00000177697 977 CD molecules, Blood group antigens, Tetraspanins 1630 protein-coding gene gene with protein product 602243 CD151 antigen, CD151 antigen (Raph blood group) NA 9070943 Standard NM_004357 NM_004357 NA Approved SFA-1, PETA-3, TSPAN24, RAPH uc001lsb.3 P48509 OTTHUMG00000133311 ENST00000397420.3:c.-7-451C>G chr11.hg19:g.835612C>G NA A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3 hg19 CCDS7719.1 0.02 1.438083 TGGxATT COVERED NOVEL CD151-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257108.1 33 19.151023 KEEP 8 2 49 81 2960 CC 1 0.999948 0 + 4 33 132 0 0 8.028189 85 60 2933 248 ENST00000397420.3 0.044944 0.999948 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016819 1016819 __UNKNOWN__ Silent SNP G G T rs369828826 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1016819G>T ENST00000421673.2 - 31 6032 c.5982C>A c.(5980-5982)acC>acA p.T1994T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1994 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGTTGGATAGGTAGTGGTGG 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1471 1465 1467 NA NA NA 11 NA NA 1016819 2203 4298 6501 SO:0001819 synonymous_variant U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5982C>A chr11.hg19:g.1016819G>T NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 19.711031 ATAxGTA COVERED NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 58 45.592129 KEEP 18 25 782 426 15162 GG 1 1 0 - 43 60 1252 0 0 83.541967 422 60 14520 1589 ENST00000421673.2 0.092473 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016825 1016825 __UNKNOWN__ Silent SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1016825G>A ENST00000421673.2 - 31 6026 c.5976C>T c.(5974-5976)acC>acT p.T1992T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1992 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATAGGTAGTGGTGGTCTGGA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1487 1481 1483 NA NA NA 11 NA NA 1016825 2203 4298 6501 SO:0001819 synonymous_variant U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5976C>T chr11.hg19:g.1016825G>A NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 18.160512 AGTxGTG COVERED NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 62 28.171912 KEEP 17 31 931 421 14812 GG 1 1 0 - 36 60 989 0 0 61.265632 432 60 14703 1600 ENST00000421673.2 0.076923 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016889 1016889 __UNKNOWN__ Missense_Mutation SNP G G A rs373231068 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1016889G>A ENST00000421673.2 - 31 5962 c.5912C>T c.(5911-5913)cCa>cTa p.P1971L NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1971 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCTGTAGGTGGGGAGTGTGT 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1041 1055 1050 NA NA NA 11 NA NA 1016889 2203 4298 6501 SO:0001583 missense U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5912C>T chr11.hg19:g.1016889G>A ENSP00000406861:p.Pro1971Leu NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 16.023708 GGTxGGG COVERED . . . . . . . . . . G 12.19 1.862334 0.32884 . . ENSG00000184956 ENST00000421673 T 0.18016 2.24 3.08 0.802 0.18686 . . . . . T 0.12220 0.0297 L 0.47716 1.5 0.09310 N 1 B 0.23650 0.089 B 0.16722 0.016 T 0.36744 -0.9735 9 0.13108 T 0.6 . 6.4541 0.21920 0.0:0.2122:0.5938:0.194 . 1971 Q6W4X9 MUC6_HUMAN L 1971 ENSP00000406861:P1971L ENSP00000406861:P1971L P - 2 0 MUC6 1006889 0.003000 0.15002 0.002000 0.10522 0.377000 0.30045 1.212000 0.32394 0.602000 0.29896 0.306000 0.20318 CCA NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 71 77.502183 KEEP 23 20 595 467 16257 GG 1 1 0 - 19 60 503 1 0 29.086888 268 60 8741 1542 ENST00000421673.2 0.066202 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016919 1016919 __UNKNOWN__ Missense_Mutation SNP C C T rs536595477 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1016919C>T ENST00000421673.2 - 31 5932 c.5882G>A c.(5881-5883)aGg>aAg p.R1961K NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1961 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTGGGTAGCCTGCTGCTGCT 0.587 NA C||| 4 0.000798722 0 0 5008 , , NA 24077 0.004 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 694 713 707 NA NA NA 11 NA NA 1016919 2203 4295 6498 SO:0001583 missense U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5882G>A chr11.hg19:g.1016919C>T ENSP00000406861:p.Arg1961Lys NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 15.811882 AGCxTGC COVERED . . . . . . . . . . C 0.232 -1.020016 0.02078 . . ENSG00000184956 ENST00000421673 T 0.17854 2.25 3.12 -4.2 0.03823 . . . . . T 0.06917 0.0176 N 0.12182 0.205 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.41106 -0.9527 9 0.16896 T 0.51 . 5.8138 0.18481 0.0:0.5175:0.1322:0.3502 . 1961 Q6W4X9 MUC6_HUMAN K 1961 ENSP00000406861:R1961K ENSP00000406861:R1961K R - 2 0 MUC6 1006919 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.310000 0.00517 -1.090000 0.03069 -1.305000 0.01319 AGG NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 78 36.871053 KEEP 25 28 885 433 15371 CC 1 1 0 - 19 60 539 0 0 37.246646 149 60 4947 1368 ENST00000421673.2 0.113095 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1017552 1017552 __UNKNOWN__ Missense_Mutation SNP T T C rs35868469 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1017552T>C ENST00000421673.2 - 31 5299 c.5249A>G c.(5248-5250)cAt>cGt p.H1750R NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1750 Approximate repeats.|Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGTGTGTGAATGTAGGGATGT 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 T ARG/HIS 159,4239 0,159,2040 833 788 803 NA 5249 -4.9 0 11 dbSNP_126 803 695,7881 0,695,3593 no missense MUC6 NM_005961.2 29 0,854,5633 CC,CT,TT NA 8.104,3.6153,6.5824 probably-damaging 1750/2440 1017552 854,12120 2199 4288 6487 SO:0001583 missense U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5249A>G chr11.hg19:g.1017552T>C ENSP00000406861:p.His1750Arg NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 20.883631 GAAxGTA COVERED . . . . . . . . . . - 1.026 -0.683406 0.03353 0.036153 0.08104 ENSG00000184956 ENST00000421673 T 0.17691 2.26 2.44 -4.87 0.03123 . . . . . T 0.00906 0.0030 L 0.43152 1.355 0.09310 N 1 D 0.54601 0.967 P 0.58210 0.835 T 0.01508 -1.1337 9 0.23891 T 0.37 . 3.5168 0.07727 0.4627:0.2884:0.0:0.2488 rs35868469 1750 Q6W4X9 MUC6_HUMAN R 1750 ENSP00000406861:H1750R ENSP00000406861:H1750R H - 2 0 MUC6 1007552 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -4.662000 0.00201 -1.333000 0.02247 -0.736000 0.03550 CAT NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 100 9.444734 KEEP 39 42 1406 523 16296 TT 1 1 0 - 71 60 2376 0 0 201.402505 219 60 6319 1585 ENST00000421673.2 0.244828 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092884 1092884 __UNKNOWN__ Missense_Mutation SNP C C T rs201415503 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1092884C>T ENST00000441003.2 + 30 4730 c.4703C>T c.(4702-4704)aCg>aTg p.T1568M MUC2_ENST00000359061.5_Missense_Mutation_p.T1569M|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1569M(2)|p.T1568M(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACCACCACCACGGTGacccca 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) large_intestine(2)|skin(2) 129 172 157 NA NA NA 11 NA NA 1092884 1964 3669 5633 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4703C>T chr11.hg19:g.1092884C>T ENSP00000415183:p.Thr1568Met NA Q14878 hg19 0.02 15.914791 CCAxGGT COVERED . . . . . . . . . . C 2.409 -0.335727 0.05278 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.14893 2.5;2.47 1.63 0.367 0.16140 . 25.055600 0.00797 U 0.001394 T 0.21841 0.0526 . . . 0.09310 N 1 D 0.76494 0.999 P 0.48425 0.577 T 0.35301 -0.9794 9 0.45353 T 0.12 . 8.9064 0.35526 0.0:0.7681:0.2319:0.0 . 1568 E7EUV1 . M 1568;1569 ENSP00000415183:T1568M;ENSP00000351956:T1569M ENSP00000351956:T1569M T + 2 0 MUC2 1082884 0.000000 0.05858 0.002000 0.10522 0.015000 0.08874 0.878000 0.28126 0.945000 0.37605 0.121000 0.15741 ACG NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 41 22.895535 KEEP 92 21 559 274 9446 CC 1 1 0 + 27 60 751 0 0 43.10981 447 60 14519 1442 ENST00000441003.2 0.056962 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092890 1092890 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1092890C>T ENST00000441003.2 + 30 4736 c.4709C>T c.(4708-4710)aCc>aTc p.T1570I MUC2_ENST00000359061.5_Missense_Mutation_p.T1571I|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACCACGGTGaccccaacccca 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 119 156 143 NA NA NA 11 NA NA 1092890 1961 3652 5613 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4709C>T chr11.hg19:g.1092890C>T ENSP00000415183:p.Thr1570Ile NA Q14878 hg19 0.02 12.883463 TGAxCCC COVERED . . . . . . . . . . C 1.561 -0.536608 0.04082 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.15487 2.42;3.24 1.3 -2.33 0.06724 . 0.589600 0.12692 U 0.447130 T 0.07548 0.0190 . . . 0.09310 N 1 P 0.34699 0.464 B 0.21546 0.035 T 0.24799 -1.0150 9 0.38643 T 0.18 . 4.395 0.11358 0.3284:0.4793:0.1923:0.0 . 1570 E7EUV1 . I 1570;1571 ENSP00000415183:T1570I;ENSP00000351956:T1571I ENSP00000351956:T1571I T + 2 0 MUC2 1082890 0.002000 0.14202 0.000000 0.03702 0.033000 0.12548 0.404000 0.20999 -0.107000 0.12088 0.064000 0.15345 ACC NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 36 32.1706 KEEP 108 16 474 274 9354 CC 1 1 0 + 17 60 484 0 0 24.915864 449 60 14554 1421 ENST00000441003.2 0.036481 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092909 1092909 __UNKNOWN__ Silent SNP C C T rs111487794 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1092909C>T ENST00000441003.2 + 30 4755 c.4728C>T c.(4726-4728)acC>acT p.T1576T MUC2_ENST00000359061.5_Silent_p.T1577T|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) caacacccaccggcacacaga 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 89 132 117 NA NA NA 11 NA NA 1092909 1939 3607 5546 SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4728C>T chr11.hg19:g.1092909C>T NA Q14878 hg19 0.02 14.328375 CACxGGC COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 35 8.816788 KEEP 123 21 621 248 8271 CC 1 1 0 + 19 60 524 0 0 27.453396 432 60 13628 1334 ENST00000441003.2 0.042129 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092910 1092910 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1092910G>A ENST00000441003.2 + 30 4756 c.4729G>A c.(4729-4731)Ggc>Agc p.G1577S MUC2_ENST00000359061.5_Missense_Mutation_p.G1578S|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.G1577S(1)|p.G1578S(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) aacacccaccggcacacagac 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) prostate(2) 85 125 111 NA NA NA 11 NA NA 1092910 1937 3603 5540 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4729G>A chr11.hg19:g.1092910G>A ENSP00000415183:p.Gly1577Ser NA Q14878 hg19 0.02 14.012623 ACCxGCA COVERED . . . . . . . . . . g 2.787 -0.252217 0.05829 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.11169 2.8;2.9 1.49 -2.97 0.05530 . 1.221530 0.07178 U 0.853623 T 0.04092 0.0114 . . . 0.09310 N 1 B 0.24882 0.113 B 0.11329 0.006 T 0.37798 -0.9690 9 0.07175 T 0.84 . 4.8921 0.13731 0.6336:0.1684:0.198:0.0 . 1577 E7EUV1 . S 1577;1578 ENSP00000415183:G1577S;ENSP00000351956:G1578S ENSP00000351956:G1578S G + 1 0 MUC2 1082910 0.000000 0.05858 0.000000 0.03702 0.067000 0.16453 -1.266000 0.02842 -2.620000 0.00440 -1.713000 0.00713 GGC NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 34 12.703717 KEEP 123 20 610 257 8323 GG 1 1 0 + 20 60 585 0 0 32.40616 439 60 13907 1324 ENST00000441003.2 0.043573 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093272 1093272 __UNKNOWN__ Silent SNP A A C rs56230143 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1093272A>C ENST00000441003.2 + 30 5118 c.5091A>C c.(5089-5091)acA>acC p.T1697T MUC2_ENST00000359061.5_Silent_p.T1664T|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1664T(2)|p.T1697T(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) agaccccaacatcgacaccca 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - coding silent(4) kidney(2)|endometrium(2) 128 167 153 NA NA NA 11 NA NA 1093272 1845 3351 5196 SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5091A>C chr11.hg19:g.1093272A>C NA Q14878 hg19 0.02 6.103255 AACxTCG COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 20 7.798827 KEEP 111 9 291 128 3803 AA 1 1 0 + 11 60 320 0 0 18.76495 191 60 5449 686 ENST00000441003.2 0.054455 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093295 1093295 __UNKNOWN__ Missense_Mutation SNP C C T rs200837746|rs200145328 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1093295C>T ENST00000441003.2 + 30 5141 c.5114C>T c.(5113-5115)aCt>aTt p.T1705I MUC2_ENST00000359061.5_Missense_Mutation_p.T1672I|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1705I(1)|p.T1672I(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) accaccaccactacggtgacc 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) large_intestine(2) 113 161 144 NA NA NA 11 NA NA 1093295 1882 3466 5348 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5114C>T chr11.hg19:g.1093295C>T ENSP00000415183:p.Thr1705Ile NA Q14878 hg19 0.02 8.279083 CCAxTAC COVERED . . . . . . . . . . C 0.775 -0.764347 0.02996 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.11277 3.02;2.79 1.6 -0.698 0.11280 . 0.547305 0.11728 U 0.535177 T 0.05868 0.0153 . . . 0.09310 N 1 B 0.06786 0.001 B 0.01281 0.0 T 0.38457 -0.9660 9 0.34782 T 0.22 . 3.0673 0.06219 0.0:0.5189:0.2842:0.1969 . 1705 E7EUV1 . I 1705;1672 ENSP00000415183:T1705I;ENSP00000351956:T1672I ENSP00000351956:T1672I T + 2 0 MUC2 1083295 0.002000 0.14202 0.001000 0.08648 0.001000 0.01503 0.065000 0.14466 -0.392000 0.07751 -1.238000 0.01547 ACT NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 25 16.92823 KEEP 146 11 329 172 5941 CC 1 1 0 + 20 60 532 2 0 31.704872 255 60 8460 929 ENST00000441003.2 0.072727 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093364 1093364 __UNKNOWN__ Missense_Mutation SNP C C G rs113138128 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1093364C>G ENST00000441003.2 + 30 5210 c.5183C>G c.(5182-5184)aCt>aGt p.T1728S MUC2_ENST00000359061.5_Missense_Mutation_p.T1695S|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.T16S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1695S(2)|p.T1728S(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) tccaccaccactacggtgacc 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) large_intestine(2)|haematopoietic_and_lymphoid_tissue(2) 184 230 214 NA NA NA 11 NA NA 1093364 1968 3805 5773 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5183C>G chr11.hg19:g.1093364C>G ENSP00000415183:p.Thr1728Ser NA Q14878 hg19 0.02 19.867292 CCAxTAC COVERED . . . . . . . . . . C 1.152 -0.646415 0.03531 . . ENSG00000198788 ENST00000441003;ENST00000359061;ENST00000333592 T;T;T 0.11604 2.76;2.85;2.86 1.47 -2.95 0.05564 . 0.396535 0.13252 N 0.402004 T 0.03136 0.0092 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.42207 -0.9465 9 0.06236 T 0.91 . 4.7261 0.12941 0.0:0.4234:0.393:0.1837 . 1728 E7EUV1 . S 1728;1695;16 ENSP00000415183:T1728S;ENSP00000351956:T1695S;ENSP00000331373:T16S ENSP00000331373:T16S T + 2 0 MUC2 1083364 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.577000 0.05847 -0.762000 0.04664 -1.112000 0.02068 ACT NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 36 4.930466 KEEP 136 16 527 201 6978 CC 1 1 0 + 40 60 1279 0 0 88.361331 415 60 13826 1270 ENST00000441003.2 0.087912 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1094713 1094713 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1094713C>G ENST00000441003.2 + 31 5828 c.5801C>G c.(5800-5802)cCc>cGc p.P1934R MUC2_ENST00000361558.6_Missense_Mutation_p.P72R|MUC2_ENST00000333592.6_Missense_Mutation_p.P222R NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4296 NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCCCCCACCCCCAGCACTGTG 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 93 112 106 NA NA NA 11 NA NA 1094713 2103 4218 6321 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5801C>G chr11.hg19:g.1094713C>G ENSP00000415183:p.Pro1934Arg NA Q14878 hg19 0.02 1.847892 CCCxCAG COVERED . . . . . . . . . . c 11.00 1.510264 0.27036 . . ENSG00000198788 ENST00000441003;ENST00000361558;ENST00000333592 T;T;T 0.45668 2.73;0.89;3.39 2.69 2.69 0.31865 . . . . . T 0.33352 0.0860 L 0.44542 1.39 0.09310 N 1 B 0.33073 0.396 B 0.29267 0.1 T 0.21655 -1.0239 9 0.51188 T 0.08 . 10.4746 0.44657 0.0:1.0:0.0:0.0 . 1934 E7EUV1 . R 1934;72;222 ENSP00000415183:P1934R;ENSP00000354885:P72R;ENSP00000331373:P222R ENSP00000331373:P222R P + 2 0 MUC2 1084713 0.000000 0.05858 0.002000 0.10522 0.110000 0.19582 0.785000 0.26830 1.533000 0.49186 0.479000 0.44913 CCC NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 0 15.951664 KEEP 0 0 0 53 1858 CC 1 0.997898 0 + 10 60 333 1 0 25.606837 60 60 1999 180 ENST00000441003.2 0.142857 0.997898 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1213142 1213142 __UNKNOWN__ 3'UTR SNP C C G rs200544156 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1213142C>G ENST00000358378.6 + 0 383 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GGTCCTGGAACTACTCCCAGC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 144 140 141 NA NA NA 11 NA NA 1213142 875 1990 2865 SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*380C>G chr11.hg19:g.1213142C>G NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 9.039376 GAAxTAC COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 28 31.887976 KEEP 10 14 463 268 9157 CC 1 1 0 + 8 60 264 0 0 17.315126 117 60 3979 759 ENST00000358378.6 0.064 1 MUC5B 727897 __UNKNOWN__ __UNKNOWN__ 11 1265752 1265752 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1265752A>G ENST00000529681.1 + 31 7700 c.7642A>G c.(7642-7644)Acc>Gcc p.T2548A MUC5B_ENST00000447027.1_Missense_Mutation_p.T2551A|RP11-532E4.2_ENST00000532061.2_RNA NM_002458.2 NP_002449.2 Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2548 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. NA Missing (in Ref. 6; AAB61398). {ECO:0000305}. cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCTGGGCACCACCTGGACCCG 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 10 13 12 NA NA NA 11 NA NA 1265752 1757 3987 5744 SO:0001583 missense U95031, AF086604 CCDS44515.1, CCDS44515.2 11p15.5 2007-01-19 2006-03-14 ENSG00000117983 727897 Mucins 7516 protein-coding gene gene with protein product 600770 mucin 5, subtype B, tracheobronchial MUC5 NA 9804771 Standard XM_001126093 NM_002458 NA Approved MG1 uc001lta.3 Q9HC84 ENST00000529681.1:c.7642A>G chr11.hg19:g.1265752A>G ENSP00000436812:p.Thr2548Ala NA O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28 hg19 CCDS44515.2 0.02 -0.210462 ACCxCCT COVERED . . . . . . . . . . A 4.696 0.129328 0.08981 . . ENSG00000117983 ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844 T;T 0.16457 2.34;2.53 2.47 -4.41 0.03590 . . . . . T 0.09113 0.0225 N 0.26130 0.795 0.09310 N 1 B;B 0.17667 0.008;0.023 B;B 0.11329 0.006;0.006 T 0.35574 -0.9783 9 0.87932 D 0 . 2.2465 0.04033 0.4919:0.1281:0.2515:0.1286 . 3186;2551 A7Y9J9;E9PBJ0 .;. A 2548;2551;2520;2563 ENSP00000436812:T2548A;ENSP00000415793:T2551A ENSP00000343037:T2520A T + 1 0 MUC5B 1222328 0.000000 0.05858 0.000000 0.03702 0.028000 0.11728 -0.322000 0.08007 -0.950000 0.03659 0.164000 0.16699 ACC NOVEL MUC5B-002 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000390041.2 2 2.871797 KEEP 61 2 58 30 903 AA 0.993634 0.518837 0 + 4 24 117 0 0 8.915258 20 40 588 150 ENST00000529681.1 0.166667 0.522161 MUC5B 727897 __UNKNOWN__ __UNKNOWN__ 11 1272422 1272422 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1272422C>G ENST00000529681.1 + 31 14370 c.14312C>G c.(14311-14313)cCc>cGc p.P4771R MUC5B_ENST00000447027.1_Missense_Mutation_p.P4774R NM_002458.2 NP_002449.2 Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4771 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. NA cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCACCACACCCATGTCCACC 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 165 192 183 NA NA NA 11 NA NA 1272422 2184 4270 6454 SO:0001583 missense U95031, AF086604 CCDS44515.1, CCDS44515.2 11p15.5 2007-01-19 2006-03-14 ENSG00000117983 727897 Mucins 7516 protein-coding gene gene with protein product 600770 mucin 5, subtype B, tracheobronchial MUC5 NA 9804771 Standard XM_001126093 NM_002458 NA Approved MG1 uc001lta.3 Q9HC84 ENST00000529681.1:c.14312C>G chr11.hg19:g.1272422C>G ENSP00000436812:p.Pro4771Arg NA O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28 hg19 CCDS44515.2 0.02 4.002839 CACxCAT COVERED . . . . . . . . . . C 1.410 -0.575850 0.03882 . . ENSG00000117983 ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844 T;T 0.18960 2.18;2.37 1.28 1.28 0.21552 . . . . . T 0.12817 0.0311 L 0.43152 1.355 0.09310 N 1 P;P 0.48407 0.91;0.91 B;B 0.32022 0.139;0.139 T 0.23726 -1.0180 9 0.87932 D 0 . 5.7021 0.17887 0.0:0.7991:0.0:0.2009 . 5093;4774 A7Y9J9;E9PBJ0 .;. R 4771;4774;4715;4470 ENSP00000436812:P4771R;ENSP00000415793:P4774R ENSP00000343037:P4715R P + 2 0 MUC5B 1228998 0.000000 0.05858 0.001000 0.08648 0.007000 0.05969 0.207000 0.17395 1.016000 0.39470 0.194000 0.17425 CCC NOVEL MUC5B-002 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000390041.2 4 39.423002 KEEP 0 0 0 131 4517 CC 1 0.999994 0 + 59 60 1924 0 0 187.550597 51 60 1716 325 ENST00000529681.1 0.536364 0.999994 KRTAP5-4 387267 __UNKNOWN__ __UNKNOWN__ 11 1643303 1643303 __UNKNOWN__ Silent SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:1643303A>G ENST00000399682.1 - 1 65 c.21T>C c.(19-21)tcT>tcC p.S7S NM_001012709.1 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 0 NA keratin filament (GO:0045095) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) cacagcctcCAGAGCAGCCAC 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 11 12 11 NA NA NA 11 NA NA 1643303 689 1590 2279 SO:0001819 synonymous_variant AB126073 11p15.5 2012-04-19 ENSG00000241598 ENSG00000241598 387267 Keratin associated proteins 23599 protein-coding gene gene with protein product NA 15144888 Standard NM_001012709 NM_001012709 NA Approved KRTAP5.4 uc009ycy.1 Q6L8H1 OTTHUMG00000057553 ENST00000399682.1:c.21T>C chr11.hg19:g.1643303A>G NA hg19 0.02 1.596154 TCCxGAG COVERED NOVEL KRTAP5-4-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000127918.1 14 4.814415 KEEP 2 0 0 16 494 AA 0.997832 0.996943 0 - 4 27 138 0 0 8.860384 74 60 2197 139 ENST00000399682.1 0.051282 0.99911 PGAP2 27315 __UNKNOWN__ __UNKNOWN__ 11 3845667 3845667 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:3845667C>T ENST00000493547.2 + 5 664 c.586C>T c.(586-588)Cct>Tct p.P196S PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396991.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000278243.4_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000496834.2_Intron NM_001256238.1 NP_001243167.1 Q9UHJ9 PGAP2_HUMAN post-GPI attachment to proteins 2 0 NA GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein transporter activity (GO:0008565) NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 GGACATCTGTCCTCAGGATTC 0.567 NA OREG0020703 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF159615 CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1 11p15.4 2014-01-31 ENSG00000148985 ENSG00000148985 27315 17893 protein-coding gene gene with protein product FGF receptor activating protein 1, cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) 615187 mental retardation, non-syndromic, autosomal recessive, 21 MRT21 NA 10585768, 16407401, 23561846 Standard NM_014489 NA Approved FRAG1, CWH43-N uc010qxw.3 Q9UHJ9 OTTHUMG00000012238 ENST00000493547.2:c.586C>T chr11.hg19:g.3845667C>T ENSP00000431851:p.Pro196Ser 614 E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1 hg19 CCDS58113.1 0.02 1.520094 TGTxCTC COVERED . . . . . . . . . . C 6.372 0.436830 0.12104 . . ENSG00000148985 ENST00000464261;ENST00000493547 . . . 4.81 3.82 0.43975 . . . . . T 0.59569 0.2203 . . . 0.80722 D 1 P 0.46064 0.872 P 0.51101 0.659 T 0.56323 -0.7998 6 . . . . 9.7964 0.40737 0.2049:0.7951:0.0:0.0 . 196 E9PJG5 . S 226;196 . . P + 1 0 PGAP2 3802243 0.800000 0.28916 0.984000 0.44739 0.447000 0.32167 0.812000 0.27211 2.659000 0.90383 0.650000 0.86243 CCT NOVEL PGAP2-015 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000033999.3 1 28.588226 KEEP 0 0 0 95 3239 CC 1 0.993703 0 + 15 60 448 0 0 36.709648 50 60 1672 197 ENST00000493547.2 0.230769 0.993703 OR51E2 81285 __UNKNOWN__ __UNKNOWN__ 11 4702333 4702333 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:4702333A>G ENST00000396950.3 - 0 1848 NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 NA NA cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) tgtaatcccaacactttggga 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY033942 CCDS7751.1 11p15 2012-08-09 ENSG00000167332 ENSG00000167332 81285 GPCR / Class A : Olfactory receptors 15195 protein-coding gene gene with protein product 611268 NA 11118034 Standard NM_030774 NM_030774 NA Approved PSGR uc001lzk.2 Q9H255 OTTHUMG00000133362 ENST00000396950.3:c.*646T>C chr11.hg19:g.4702333A>G NA B2RA63|Q6IF94 hg19 CCDS7751.1 0.02 -0.429689 CCAxCAC COVERED NOVEL OR51E2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257198.1 10 2.976986 KEEP 1 2 75 36 1076 AA 1 0.954491 0 - 5 60 176 0 0 13.275491 38 60 1092 118 ENST00000396950.3 0.116279 0.954491 OR52A5 390054 __UNKNOWN__ __UNKNOWN__ 11 5153214 5153214 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:5153214G>A ENST00000307388.1 - 1 658 c.659C>T c.(658-660)tCc>tTc p.S220F NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 220 NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TTGGACATAGGACAAGGTTAT 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 87 85 86 NA NA NA 11 NA NA 5153214 2201 4298 6499 SO:0001583 missense BK004433 CCDS31373.1 11p15.4 2012-08-09 ENSG00000171944 ENSG00000171944 390054 GPCR / Class A : Olfactory receptors 19580 protein-coding gene gene with protein product NA Standard NM_001005160 NM_001005160 NA Approved uc010qyx.2 Q9H2C5 OTTHUMG00000066616 ENST00000307388.1:c.659C>T chr11.hg19:g.5153214G>A ENSP00000303469:p.Ser220Phe NA hg19 CCDS31373.1 0.02 -0.30646 TAGxACA COVERED . . . . . . . . . . G 13.76 2.332559 0.41297 . . ENSG00000171944 ENST00000307388 T 0.42513 0.97 4.94 4.94 0.65067 GPCR, rhodopsin-like superfamily (1); 0.000000 0.47852 D 0.000214 T 0.77987 0.4213 H 0.98199 4.17 0.44515 D 0.997469 D 0.89917 1.0 D 0.97110 1.0 D 0.86632 0.1886 10 0.87932 D 0 . 16.9113 0.86141 0.0:0.0:1.0:0.0 . 220 Q9H2C5 O52A5_HUMAN F 220 ENSP00000303469:S220F ENSP00000303469:S220F S - 2 0 OR52A5 5109790 1.000000 0.71417 0.985000 0.45067 0.016000 0.09150 7.135000 0.77276 2.546000 0.85860 0.563000 0.77884 TCC NOVEL OR52A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142823.1 1 12.073303 KEEP 0 1 34 52 1743 GG 1 0.800245 0 - 23 60 622 0 0 63.333309 12 60 399 115 ENST00000307388.1 0.657143 0.800245 OR51B6 390058 __UNKNOWN__ __UNKNOWN__ 11 5372856 5372856 __UNKNOWN__ Missense_Mutation SNP A A G rs4910756 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:5372856A>G ENST00000380219.1 + 1 119 c.119A>G c.(118-120)aAt>aGt p.N40S AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 40 NA N -> S (in dbSNP:rs4910756). {ECO:0000269|PubMed:11121057}. detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCTTGGCAATGGCACTCTT 0.473 NA A||| 755 0.150759 0.2254 0.1556 5008 , , NA 22235 0.0188 NA 0.2147 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 A SER/ASN 869,3533 340.5+/-306.2 85,699,1417 174 138 150 NA 119 4 1 11 dbSNP_111 150 1824,6770 327.2+/-317.7 205,1414,2678 yes missense OR51B6 NM_001004750.1 46 290,2113,4095 GG,GA,AA NA 21.2241,19.741,20.7218 probably-damaging 40/313 5372856 2693,10303 2201 4297 6498 SO:0001583 missense CCDS31379.1 11p15.4 2012-08-09 ENSG00000176239 ENSG00000176239 390058 GPCR / Class A : Olfactory receptors 19600 protein-coding gene gene with protein product NA Standard NM_001004750 NM_001004750 NA Approved uc010qzb.2 Q9H340 OTTHUMG00000066669 ENST00000380219.1:c.119A>G chr11.hg19:g.5372856A>G ENSP00000369568:p.Asn40Ser NA hg19 CCDS31379.1 0.02 -0.263084 GCAxTGG COVERED 320 0.14652014652014653 100 0.2032520325203252 59 0.16298342541436464 4 0.006993006993006993 157 0.20712401055408972 A 18.26 3.584023 0.65992 0.19741 0.212241 ENSG00000176239 ENST00000537299;ENST00000380219 T 0.75477 -0.94 5.15 4.02 0.46733 GPCR, rhodopsin-like superfamily (1); 0.000000 0.56097 D 0.000025 T 0.00271 0.0008 H 0.96805 3.885 0.27891 P 0.9393456 P 0.35307 0.494 B 0.41202 0.35 T 0.36504 -0.9745 9 0.72032 D 0.01 . 9.8577 0.41094 0.9186:0.0:0.0814:0.0 rs4910756;rs17186878;rs52833327;rs58240740;rs4910756 40 Q9H340 O51B6_HUMAN S 39;40 ENSP00000369568:N40S ENSP00000369568:N40S N + 2 0 OR51B6 5329432 1.000000 0.71417 0.962000 0.40283 0.949000 0.60115 6.909000 0.75735 0.978000 0.38470 0.455000 0.32223 AAT NOVEL OR51B6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142960.1 1 7.523219 KEEP 0 0 0 25 807 AA 0.999931 0.69362 0 + 3 60 100 0 0 7.19793 27 60 781 77 ENST00000380219.1 0.1 0.693668 TRIM6 117854 __UNKNOWN__ __UNKNOWN__ 11 5632710 5632710 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:5632710A>G ENST00000445329.1 + 0 1479 TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_3'UTR|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000380107.1_3'UTR|TRIM6_ENST00000506134.1_3'UTR|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000278302.5_3'UTR|TRIM6_ENST00000507320.1_3'UTR NM_001198645.1 NP_001185574.1 Q9C030 TRIM6_HUMAN tripartite motif containing 6 NA NA protein trimerization (GO:0070206) cytoplasm (GO:0005737) zinc ion binding (GO:0008270) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) ttgagatggaatctcgctctg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF220030 CCDS31389.1, CCDS31390.1, CCDS55738.1 11p15 2013-01-09 2011-01-25 ENSG00000121236 ENSG00000121236 117854 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 16277 protein-coding gene gene with protein product 607564 tripartite motif-containing 6 NA 11331580 Standard NM_001003818 NM_058166 NA Approved RNF89 Q9C030 OTTHUMG00000150029 ENST00000445329.1:c.*138A>G chr11.hg19:g.5632710A>G NA A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1 hg19 CCDS55738.1 0.02 1.801085 GGAxTCT COVERED NOVEL TRIM6-004 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000143379.3 6 16.304313 KEEP 0 5 148 106 3034 AA 1 0.995687 0 + 5 60 164 0 0 11.3927 53 60 1455 190 ENST00000445329.1 0.086207 0.995687 TRIM5 85363 __UNKNOWN__ __UNKNOWN__ 11 5758795 5758795 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:5758795A>T ENST00000380027.1 - 4 344 Q9C035 TRIM5_HUMAN tripartite motif containing 5 NA NA activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) AGGATAAATGAGTAAGTGAAT 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF220025 CCDS31392.1, CCDS31393.1, CCDS31394.1 11p15 2014-06-03 2011-01-25 ENSG00000132256 ENSG00000132256 85363 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 16276 protein-coding gene gene with protein product tripartite motif protein TRIM5, tripartite motif protein TRIM 608487 tripartite motif-containing 5 NA 11331580 Standard NM_033034 NM_033034 NA Approved RNF88, TRIM5alpha uc001mbm.2 Q9C035 OTTHUMG00000066893 ENST00000380027.1:c.440-52171T>A chr11.hg19:g.5758795A>T NA A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034 hg19 CCDS31392.1 0.02 -0.359582 ATGxGTA COVERED NOVEL TRIM5-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000143362.2 4 19.861792 KEEP 0 0 0 66 2150 AA 1 0.888875 0 - 24 60 719 0 0 72.062057 15 60 441 153 ENST00000380027.1 0.615385 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 6443320 6443320 __UNKNOWN__ IGR SNP A A G rs369642121 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:6443320A>G NA NA APBB1 (2676 upstream) : HPX (8958 downstream) NA NA NA ggatggtctcaatctcctgac 0.507 NA G||| 87 0.0173722 0.056 0.0115 5008 , , NA 15529 0.002 NA 0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.6443320A>G NA hg19 0.02 -0.096465 CTCxATC UNCOVERED NOVEL 0 2 2.708346 KEEP 0 0 0 9 286 AA 0.99254 0.119538 0 3 60 95 0 0 8.279046 7 60 198 27 0.3 0.120436 TIMM10B 26515 __UNKNOWN__ __UNKNOWN__ 11 6505601 6505601 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:6505601T>C ENST00000254616.6 + 0 2532 TIMM10B_ENST00000472836.1_Intron NM_012192.3 NP_036324.1 Q9Y5J6 T10B_HUMAN translocase of inner mitochondrial membrane 10 homolog B (yeast) NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626) mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719) metal ion binding (GO:0046872) NA ggattacaggtgtgagccacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF150105 CCDS7766.1 11p15.4 2012-12-07 2012-12-07 2012-12-07 ENSG00000132286 ENSG00000132286 26515 4022 protein-coding gene gene with protein product 607388 fracture callus 1 (rat) homolog, fracture callus 1 homolog (rat) FXC1 NA 10552927 Standard NM_012192 NM_012192 NA Approved Tim9b, TIM10B uc001mdn.4 Q9Y5J6 OTTHUMG00000133400 ENST00000254616.6:c.*2150T>C chr11.hg19:g.6505601T>C NA Q96FF3 hg19 CCDS7766.1 0.02 -0.306867 AGGxGTG COVERED NOVEL TIMM10B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257257.2 6 5.046174 KEEP 0 1 35 29 872 TT 0.999997 0.800243 0 + 3 60 103 0 0 7.452915 28 60 789 93 ENST00000254616.6 0.096774 0.800245 RRP8 23378 __UNKNOWN__ __UNKNOWN__ 11 6619099 6619099 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:6619099C>A ENST00000254605.6 - 0 3765 NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) NA NA cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351) chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553) methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 cagcctgggccacagagcaag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007869 CCDS31411.1 11p15.4 2009-02-23 2009-02-23 2009-02-23 ENSG00000132275 ENSG00000132275 23378 29030 protein-coding gene gene with protein product RRP8 methyltransferase homolog (S. cerevisiae) 615818 KIAA0409 KIAA0409 NA 9455477 Standard NM_015324 NM_015324 NA Approved uc001med.3 O43159 ENST00000254605.6:c.*2277G>T chr11.hg19:g.6619099C>A NA Q7KZ78|Q9BVM6 hg19 CCDS31411.1 0.02 -0.377129 GGCxACA COVERED NOVEL RRP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384505.1 4 8.149937 KEEP 0 1 31 38 1210 CC 1 0.92664 0 - 4 60 122 0 0 8.658211 32 60 1015 97 ENST00000254605.6 0.111111 0.92664 TPP1 1200 __UNKNOWN__ __UNKNOWN__ 11 6636669 6636669 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:6636669G>A ENST00000299427.6 - 10 1327 TPP1_ENST00000533371.1_Intron NM_000391.3 NP_000382.3 P49638 TTPA_HUMAN tripeptidyl peptidase I NA NA embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180) cytosol (GO:0005829)|late endosome (GO:0005770) phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) Vitamin E(DB00163) ACAAACACACGTACCTGGTAT 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 163 119 134 NA NA NA 11 NA NA 6636669 2201 4296 6497 SO:0001627 intron_variant AF017456 CCDS7770.1 11p15.4 2014-09-17 2004-12-09 2004-12-10 ENSG00000166340 ENSG00000166340 1200 2073 protein-coding gene gene with protein product TPP I 607998 ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease), spinocerebellar ataxia, autosomal recessive 7 CLN2, SCAR7 NA 9653647, 23418007 Standard NM_000391 NA Approved uc001mel.1 O14773 OTTHUMG00000133404 ENST00000299427.6:c.1266+3C>T chr11.hg19:g.6636669G>A NA Q71V64 hg19 CCDS7770.1 0.02 0.995312 CACxTAC COVERED NOVEL TPP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257261.2 6 51.160463 KEEP 0 0 0 170 5839 GG 1 0.999862 0 - 5 60 137 0 0 7.803842 82 60 2680 372 ENST00000299427.6 0.057471 0.999862 ZNF214 7761 __UNKNOWN__ __UNKNOWN__ 11 7020668 7020668 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:7020668T>C ENST00000278314.4 - 0 2561 ZNF214_ENST00000536068.1_3'UTR NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) AGGGAGTTTTTAGGGGAGTTA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(22;251 657 736 21522 46864) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF056617 CCDS31418.1 11p15.4 2013-01-08 ENSG00000149050 7761 Zinc fingers, C2H2-type, - 13006 protein-coding gene gene with protein product 605015 NA Standard NM_013249 NA Approved uc001mfa.2 Q9UL59 ENST00000278314.4:c.*425A>G chr11.hg19:g.7020668T>C NA B2R8Q1 hg19 CCDS31418.1 0.02 -0.368352 TTTxAGG COVERED NOVEL ZNF214-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385349.1 0 13.538179 KEEP 0 0 0 45 1359 TT 1 0.899314 0 - 28 60 904 0 0 92.637833 13 60 350 114 ENST00000278314.4 0.682927 0.899314 SYT9 143425 __UNKNOWN__ __UNKNOWN__ 11 7487027 7487027 __UNKNOWN__ Intron SNP A A G rs201053383 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:7487027A>G ENST00000318881.6 + 7 1704 CTD-2516F10.2_ENST00000526695.1_RNA|CTD-2516F10.2_ENST00000526706.1_RNA|CTD-2516F10.2_ENST00000530169.1_RNA NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX NA NA positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796) cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021) metal ion binding (GO:0046872)|transporter activity (GO:0005215) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) ggcaggaggcaaaaggcactt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055003 CCDS7778.1 11p15.4 2013-01-21 ENSG00000170743 ENSG00000170743 143425 Synaptotagmins 19265 protein-coding gene gene with protein product 613528 NA 11543631 Standard NM_175733 NM_175733 NA Approved uc001mfe.3 Q86SS6 OTTHUMG00000165499 ENST00000318881.6:c.1468-996A>G chr11.hg19:g.7487027A>G NA hg19 CCDS7778.1 0.02 -0.420633 GGCxAAA UNCOVERED NOVEL SYT9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384483.1 13 2.406261 KEEP 13 0 0 8 240 AA 0 0 0 + 5 40 160 2 0 11.965133 33 60 930 109 ENST00000318881.6 0.131579 0.948402 EIF3F 8665 __UNKNOWN__ __UNKNOWN__ 11 8021592 8021592 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:8021592G>A ENST00000533626.1 + 0 5723 eukaryotic translation initiation factor 3, subunit F NA NA endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ctctacaaaagatacaaaaat 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U94855, AK093511 CCDS7785.1 11p15.4 2010-03-10 2007-07-27 2007-07-27 ENSG00000175390 ENSG00000175390 8665 3275 protein-coding gene gene with protein product 603914 eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa EIF3S5 NA 9341143 Standard NM_003754 NM_003754 NA Approved eIF3-epsilon, eIF3-p47, eIF3f uc001mfw.3 O00303 ENST00000533626.1:c.*4023G>A chr11.hg19:g.8021592G>A NA hg19 CCDS7785.1 0.02 -0.245568 AAAxATA COVERED NOVEL EIF3F-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385713.2 4 2.942632 KEEP 0 1 23 18 607 GG 0.99986 0.641257 0 + 4 60 108 0 1 7.727753 24 60 763 51 ENST00000533626.1 0.142857 0.641347 ST5 6764 __UNKNOWN__ __UNKNOWN__ 11 8719427 8719427 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:8719427A>G ENST00000526099.1 - 14 1582 ST5_ENST00000530991.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000534278.1_Intron|ST5_ENST00000534127.1_Intron|ST5_ENST00000313726.6_Intron|ST5_ENST00000357665.1_Intron|ST5_ENST00000526757.1_Intron|RPL27A_ENST00000531102.1_Intron P78524 ST5_HUMAN suppression of tumorigenicity 5 NA NA positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851) Rab guanyl-nucleotide exchange factor activity (GO:0017112) NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) agtaatcccaacactttggaa 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U15131 CCDS7791.1, CCDS7792.1 11p15 2012-10-04 ENSG00000166444 6764 DENN/MADD domain containing 11350 protein-coding gene gene with protein product DENN/MADD domain containing 2B 140750 NA 1390339 Standard NM_005418 NM_005418 NA Approved HTS1, DENND2B, p126 uc001mgt.3 P78524 ENST00000526099.1:c.1480-244T>C chr11.hg19:g.8719427A>G NA B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6 hg19 0.02 1.51726 CCAxCAC COVERED NOVEL ST5-009 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000386522.1 7 17.525814 KEEP 0 2 71 83 2714 AA 1 0.999804 0 - 5 60 148 0 0 8.942548 80 60 2367 205 ENST00000526099.1 0.058824 0.999804 DENND5A 23258 __UNKNOWN__ __UNKNOWN__ 11 9193143 9193143 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:9193143T>C ENST00000530044.1 - 9 1924 DENND5A_ENST00000328194.3_Intron|DENND5A_ENST00000527700.1_5'UTR Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A NA NA positive regulation of Rab GTPase activity (GO:0032851) Golgi apparatus (GO:0005794)|membrane (GO:0016020) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 cctgatagcttacgcctgtaa 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029014 CCDS31423.1, CCDS58119.1 11p15.3 2012-10-03 2008-08-14 2008-08-14 ENSG00000184014 ENSG00000184014 23258 DENN/MADD domain containing 19344 protein-coding gene gene with protein product RAB6 interacting protein 1 RAB6IP1 NA 10470851 Standard NM_015213 NM_015213 NA Approved KIAA1091, FLJ22354, FLJ33829, FLJ43455 uc001mhl.3 Q6IQ26 OTTHUMG00000165716 ENST00000530044.1:c.1907-819A>G chr11.hg19:g.9193143T>C NA B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1 hg19 CCDS58119.1 0.02 1.962102 GCTxACG COVERED NOVEL DENND5A-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000385912.1 14 8.456548 KEEP 0 1 25 37 1095 TT 1 0.987943 0 - 4 60 140 0 0 9.621444 53 60 1484 148 ENST00000530044.1 0.070175 0.987943 TMEM41B 440026 __UNKNOWN__ __UNKNOWN__ 11 9303921 9303921 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:9303921C>T ENST00000528080.1 - 0 2264 NM_015012.3 NP_055827.1 Q5BJD5 TM41B_HUMAN transmembrane protein 41B NA NA nervous system development (GO:0007399) integral component of membrane (GO:0016021) kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2) 7 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) agcaagactccgtctcaaaaa 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D26067 CCDS31424.1, CCDS53600.1 11p15.3 2008-02-05 ENSG00000166471 ENSG00000166471 440026 28948 protein-coding gene gene with protein product NA 7584026, 7584028 Standard NM_015012 NA Approved KIAA0033 uc001mhn.2 Q5BJD5 OTTHUMG00000165719 ENST00000528080.1:c.*1050G>A chr11.hg19:g.9303921C>T NA D3DQU9|E9PP29|Q15055|Q4G0P0 hg19 CCDS31424.1 0.02 -0.157889 CTCxGTC COVERED NOVEL TMEM41B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385940.2 2 3.310315 KEEP 0 0 0 11 359 CC 0.993072 0.32057 0 - 3 60 89 0 0 6.892028 14 60 446 35 ENST00000528080.1 0.176471 0.322807 SBF2 81846 __UNKNOWN__ __UNKNOWN__ 11 10279349 10279349 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:10279349A>G ENST00000256190.8 - 1 193 NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 NA NA cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262) membrane (GO:0016020)|vacuolar membrane (GO:0005774) phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) tacgagaccaacctgggcaac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051553 CCDS31427.1 11p15.3 2014-09-17 2004-11-12 2004-11-12 ENSG00000133812 ENSG00000133812 81846 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing 2135 protein-coding gene gene with protein product myotubularin related 13 607697 Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding), DENN/MADD domain containing 7B CMT4B2 NA 10644431 Standard NM_030962 NM_030962 NA Approved KIAA1766, MTMR13, DENND7B uc001mib.2 Q86WG5 OTTHUMG00000165890 ENST00000256190.8:c.55+36212T>C chr11.hg19:g.10279349A>G NA Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097 hg19 CCDS31427.1 0.02 -0.210457 CCAxCCT COVERED NOVEL SBF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386911.2 4 2.708078 KEEP 0 0 0 9 282 AA 0.99254 0.518266 0 - 3 60 101 0 0 7.605835 21 60 589 46 ENST00000256190.8 0.125 0.522161 MICALCL 84953 __UNKNOWN__ __UNKNOWN__ 11 12332083 12332083 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:12332083A>G ENST00000256186.2 + 4 1717 NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737) mitogen-activated protein kinase binding (GO:0051019) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) tggtctatgtatctgttttta 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BK000463 CCDS41620.1 11p15.3 2005-11-01 ENSG00000133808 ENSG00000133808 84953 25933 protein-coding gene gene with protein product 612355 NA 12110185 Standard NM_032867 NM_032867 NA Approved FLJ14966 uc001mkg.1 Q6ZW33 OTTHUMG00000165777 ENST00000256186.2:c.1427-9160A>G chr11.hg19:g.12332083A>G NA Q7RTP7|Q96JU6 hg19 CCDS41620.1 0.02 -0.18417 TGTxTCT COVERED NOVEL MICALCL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386164.1 2 2.406952 KEEP 0 0 0 8 240 AA 0.99257 0.420331 0 + 3 60 101 0 0 7.933451 16 60 455 33 ENST00000256186.2 0.157895 0.423478 PARVA 55742 __UNKNOWN__ __UNKNOWN__ 11 12539374 12539374 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:12539374C>A ENST00000334956.8 + 11 1432 PARVA_ENST00000539723.1_Intron|PARVA_ENST00000550549.1_Intron NM_018222.4 NP_060692.2 Q9NVD7 PARVA_HUMAN parvin, alpha NA NA actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) TGCTCAACGTCTTCAGTGCCT 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF237771 CCDS44541.1, CCDS44541.2 11p15.3 2014-06-13 2005-05-26 ENSG00000197702 ENSG00000197702 55742 Parvins 14652 protein-coding gene gene with protein product 608120 matrix-remodelling associated 2 MXRA2 NA 11171322 Standard NM_018222 NM_018222 NA Approved FLJ12254, FLJ10793 uc001mki.4 Q9NVD7 OTTHUMG00000165778 ENST00000334956.8:c.1089+116C>A chr11.hg19:g.12539374C>A NA Q96C85|Q9HA48 hg19 CCDS44541.2 0.02 -0.315774 CGTxTTC COVERED NOVEL PARVA-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000386165.2 1 7.508616 KEEP 0 0 0 25 863 CC 0.999931 0.818408 0 + 6 60 160 0 0 11.823203 30 60 1024 75 ENST00000334956.8 0.166667 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 13160128 13160128 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:13160128T>C NA NA CTC-497E21.5 (3742 upstream) : ARNTL (139196 downstream) NA NA NA tgcctgtaattccagcacttt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.13160128T>C NA hg19 0.02 -0.227777 AATxCCA UNCOVERED NOVEL 0 10 2.407107 KEEP 2 0 0 8 248 TT 0 0 0 3 60 91 0 0 6.730313 19 60 543 49 0.136364 0.58293 COPB1 1315 __UNKNOWN__ __UNKNOWN__ 11 14490823 14490823 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:14490823G>A ENST00000249923.3 - 15 2266 COPB1_ENST00000439561.2_Intron NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 NA NA COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032) COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886) structural molecule activity (GO:0005198) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 gattacaggcgtgagccactg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC037280 CCDS7815.1 11p15.2 2011-05-20 2006-06-30 2006-06-30 ENSG00000129083 ENSG00000129083 1315 2231 protein-coding gene gene with protein product 600959 coatomer protein complex, subunit beta COPB NA 7982906 Standard NM_016451 NM_016451 NA Approved uc001mlg.2 P53618 OTTHUMG00000165824 ENST00000249923.3:c.1965+58C>T chr11.hg19:g.14490823G>A NA D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7 hg19 CCDS7815.1 0.02 1.159077 GGCxTGA COVERED NOVEL COPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386410.1 18 10.560276 KEEP 1 1 31 46 1462 GG 1 0.999919 0 - 5 60 141 0 0 8.096373 86 60 2786 205 ENST00000249923.3 0.054945 0.999919 PIK3C2A 5286 __UNKNOWN__ __UNKNOWN__ 11 17108707 17108707 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:17108707C>T ENST00000265970.7 - 0 7638 PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha NA NA clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091) central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 TATTTTTAGTCAATAAAGGTG 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y13367 CCDS7824.1 11p15.5-p14 2012-07-13 2012-07-13 ENSG00000011405 5286 2.7.1.154 8971 protein-coding gene gene with protein product 603601 phosphoinositide-3-kinase, class 2, alpha polypeptide NA 9337861 Standard NM_002645 NM_002645 NA Approved PI3K-C2alpha uc001mmq.4 O00443 ENST00000265970.7:c.*2578G>A chr11.hg19:g.17108707C>T NA B0LPH2|B4E2G4|Q14CQ9 hg19 CCDS7824.1 0.02 1.251912 AGTxAAT COVERED NOVEL PIK3C2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387553.1 2 14.430758 KEEP 0 0 0 48 1652 CC 1 0.997898 0 - 14 60 381 1 0 29.47804 57 60 1878 166 ENST00000265970.7 0.197183 0.997898 NCR3LG1 374383 __UNKNOWN__ __UNKNOWN__ 11 17398765 17398765 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:17398765A>C ENST00000338965.4 + 0 6315 NM_001202439.1 NP_001189368.1 Q68D85 NR3L1_HUMAN natural killer cell cytotoxicity receptor 3 ligand 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral capsid (GO:0019028) structural molecule activity (GO:0005198) NA gtggcttacgactgtaatccc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS55748.1 11p15.1 2014-01-30 ENSG00000188211 ENSG00000188211 374383 Immunoglobulin superfamily / C1-set domain containing, Endogenous ligands 42400 protein-coding gene gene with protein product B7 homolog 6 613714 NA 19528259 Standard NM_001202439 XR_242803 NA Approved DKFZp686O24166, B7-H6 uc001mmz.4 Q68D85 OTTHUMG00000165913 ENST00000338965.4:c.*4706A>C chr11.hg19:g.17398765A>C NA Q7Z3M6 hg19 CCDS55748.1 0.02 -0.333196 ACGxCTG COVERED NOVEL NCR3LG1-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387035.2 4 2.706708 KEEP 0 0 0 9 257 AA 0.99254 0.845628 0 + 3 60 102 0 0 7.267642 30 60 828 54 ENST00000338965.4 0.090909 0.851984 OTOG 340990 __UNKNOWN__ __UNKNOWN__ 11 17660383 17660383 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:17660383A>G ENST00000342528.2 + 0 4894 OTOG_ENST00000399397.1_Intron|OTOG_ENST00000399391.2_Intron Q6ZRI0 OTOG_HUMAN otogelin NA NA adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605) cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198) breast(3)|central_nervous_system(1)|lung(1)|skin(1) 6 ggtggctcacacctgtaatcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK128214 CCDS59225.1 11p14.3 2014-07-17 ENSG00000188162 ENSG00000188162 340990 8516 protein-coding gene gene with protein product 604487 NA 9405633 Standard NM_001277269 NA Approved mlemp, OTGN, FLJ46346 uc031pzc.1 Q6ZRI0 OTTHUMG00000149905 ENST00000342528.2:c.*83A>G chr11.hg19:g.17660383A>G NA A8MTX6|A8MUJ0|B7WPC4 hg19 0.02 5.473613 CACxCCT COVERED NOVEL OTOG-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000313843.1 22 13.367667 KEEP 0 1 33 56 1651 AA 1 1 0 + 9 60 258 0 0 14.779534 164 60 4719 336 ENST00000342528.2 0.052023 1 OTOG 340990 __UNKNOWN__ __UNKNOWN__ 11 17660404 17660404 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:17660404A>G ENST00000342528.2 + 0 4915 OTOG_ENST00000399397.1_Intron|OTOG_ENST00000399391.2_Intron Q6ZRI0 OTOG_HUMAN otogelin NA NA adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605) cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198) breast(3)|central_nervous_system(1)|lung(1)|skin(1) 6 cagcactttgagaggccaagg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK128214 CCDS59225.1 11p14.3 2014-07-17 ENSG00000188162 ENSG00000188162 340990 8516 protein-coding gene gene with protein product 604487 NA 9405633 Standard NM_001277269 NA Approved mlemp, OTGN, FLJ46346 uc031pzc.1 Q6ZRI0 OTTHUMG00000149905 ENST00000342528.2:c.*104A>G chr11.hg19:g.17660404A>G NA A8MTX6|A8MUJ0|B7WPC4 hg19 0.02 5.484398 TTGxGAG COVERED NOVEL OTOG-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000313843.1 10 4.517104 KEEP 0 3 103 51 1583 AA 1 1 0 + 8 60 255 0 0 15.76932 142 60 4232 272 ENST00000342528.2 0.053333 1 SERGEF 26297 __UNKNOWN__ __UNKNOWN__ 11 17940200 17940200 __UNKNOWN__ Intron SNP T T C rs74865487 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:17940200T>C ENST00000265965.5 - 10 1163 SERGEF_ENST00000532265.1_Intron|SERGEF_ENST00000528200.1_Intron NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor NA NA negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634) Ran guanyl-nucleotide exchange factor activity (GO:0005087) autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 cacacacacatacacacacac 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ243950 CCDS7828.1 11p14.3 2006-03-09 ENSG00000129158 ENSG00000129158 26297 17499 protein-coding gene gene with protein product 606051 NA 10571079, 12459492 Standard NM_012139 NM_012139 NA Approved DelGEF, Gnefr uc001mnm.3 Q9UGK8 OTTHUMG00000166420 ENST00000265965.5:c.1012-40409A>G chr11.hg19:g.17940200T>C NA Q9UGK9 hg19 CCDS7828.1 0.02 -0.306032 ACAxACA COVERED NOVEL SERGEF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389538.1 3 5.413278 KEEP 0 0 0 18 502 TT 0.99986 0.81835 0 - 4 60 134 0 1 9.96809 30 60 721 60 ENST00000265965.5 0.117647 0.818465 TPH1 7166 __UNKNOWN__ __UNKNOWN__ 11 18039594 18039594 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:18039594C>T ENST00000250018.2 - 0 4841 RP1-59M18.2_ENST00000525523.1_RNA NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 NA NA aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|neuron projection (GO:0043005) amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) gccaacatggcgaaaccccat 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X52836 CCDS7829.1 11p15.3-p14 2012-10-02 2008-07-31 2003-04-04 ENSG00000129167 ENSG00000129167 7166 1.14.16.4 12008 protein-coding gene gene with protein product tryptophan 5-monooxygenase 191060 tryptophan hydroxylase (tryptophan 5-monooxygenase) TPRH, TPH NA 1463016 Standard NM_004179 NM_004179 NA Approved uc001mnp.2 P17752 OTTHUMG00000166421 ENST00000250018.2:c.*2944G>A chr11.hg19:g.18039594C>T NA D3DQX6|O95188|O95189|Q16736|Q3KPG8 hg19 CCDS7829.1 0.02 2.504185 TGGxGAA COVERED NOVEL TPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389696.1 18 9.562412 KEEP 1 1 32 43 1430 CC 1 1 0 - 8 60 234 0 0 14.077087 126 60 4134 248 ENST00000250018.2 0.059701 1 HPS5 11234 __UNKNOWN__ __UNKNOWN__ 11 18300806 18300806 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:18300806T>A ENST00000349215.3 - 0 4290 HPS5_ENST00000396253.3_3'UTR|HPS5_ENST00000438420.2_3'UTR NM_181507.1 NP_852608.1 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 NA NA blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473) BLOC-2 complex (GO:0031084) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 ggtcttgaactcctggcctca 0.468 NA Hermansky-Pudlak syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database HPS, HPS1-8 AB023234 CCDS7836.1, CCDS7837.1 11p14 2014-06-18 ENSG00000110756 ENSG00000110756 11234 17022 protein-coding gene gene with protein product 607521 NA 10231032, 10094488 Standard NM_181507 NM_181507 NA Approved uc001mod.1 Q9UPZ3 OTTHUMG00000166612 ENST00000349215.3:c.*623A>T chr11.hg19:g.18300806T>A NA A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0 hg19 CCDS7836.1 0.02 1.263544 AACxCCT COVERED NOVEL HPS5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390808.1 7 6.92024 KEEP 0 0 0 23 730 TT 0.999892 0.99938 0 - 23 60 590 0 0 50.046583 51 60 1499 110 ENST00000349215.3 0.310811 0.999487 GTF2H1 2965 __UNKNOWN__ __UNKNOWN__ 11 18368873 18368873 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:18368873A>G ENST00000265963.4 + 8 997 GTF2H1_ENST00000534641.1_Intron|GTF2H1_ENST00000453096.2_Intron|GTF2H1_ENST00000524753.4_Intron|GTF2H1_ENST00000530496.2_5'UTR NM_005316.3 NP_005307.1 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 62kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032) core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 ctccagcctgagcaacagagc 0.468 NA Nucleotide excision repair (NER) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7838.1 11p15.1-p14 2012-11-05 2002-08-29 ENSG00000110768 ENSG00000110768 2965 General transcription factors, General transcription factor IIH complex subunits 4655 protein-coding gene gene with protein product 189972 general transcription factor IIH, polypeptide 1 (62kD subunit) NA 1529339, 8162052 Standard NM_005316 NM_005316 NA Approved BTF2, P62, TFIIH uc001moh.2 P32780 OTTHUMG00000167690 ENST00000265963.4:c.838-262A>G chr11.hg19:g.18368873A>G NA B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9 hg19 CCDS7838.1 0.02 -0.350808 CTGxGCA COVERED NOVEL GTF2H1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395627.2 5 3.91193 KEEP 0 0 0 13 415 AA 0.994391 0.872784 0 + 3 60 102 0 0 7.226529 31 60 910 67 ENST00000265963.4 0.088235 0.877708 LDHC 3948 __UNKNOWN__ __UNKNOWN__ 11 18434910 18434910 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:18434910A>G ENST00000546146.1 + 1 126 LDHC_ENST00000544105.1_Intron|LDHC_ENST00000280704.4_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000541669.1_Intron|LDHC_ENST00000536880.1_Intron|LDHC_ENST00000537486.1_Intron P07864 LDHC_HUMAN lactate dehydrogenase C NA NA ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634) L-lactate dehydrogenase activity (GO:0004459) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 gattacaggcatgagccacca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY286300 CCDS7840.1 11p15.1 2012-10-02 ENSG00000166796 ENSG00000166796 3948 1.1.1.27 6544 protein-coding gene gene with protein product cancer/testis antigen 32 150150 NA Standard NM_017448 NM_002301 NA Approved CT32 uc001mom.4 P07864 OTTHUMG00000167722 ENST00000546146.1:c.126+520A>G chr11.hg19:g.18434910A>G NA D3DQY4|Q6GSG8|Q7Z7J4 hg19 CCDS7840.1 0.02 -0.166634 GGCxTGA COVERED NOVEL LDHC-008 NOVEL not_organism_supported|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000395897.1 9 2.707907 KEEP 0 0 0 9 276 AA 0.99254 0.384517 0 + 3 60 104 0 0 8.233296 16 60 462 38 ENST00000546146.1 0.157895 0.387407 TSG101 7251 __UNKNOWN__ __UNKNOWN__ 11 18500589 18500589 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:18500589T>C ENST00000536719.1 - 9 1218 LDHAL6A_ENST00000280706.2_3'UTR|LDHAL6A_ENST00000396213.3_3'UTR Q99816 TS101_HUMAN tumor susceptibility 101 NA NA cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 gagggtctcattctgtcaccc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(99;1348 1396 8611 26475 50572) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U82130 CCDS7842.1 11p15 2013-08-22 2013-08-22 ENSG00000074319 ENSG00000074319 7251 15971 protein-coding gene gene with protein product 601387 tumor susceptibility gene 10, tumor susceptibility gene 101 TSG10 NA 9019400, 9241264 Standard NM_006292 NM_006292 NA Approved VPS23 uc001mor.3 Q99816 OTTHUMG00000167725 ENST00000536719.1:c.1083+2587A>G chr11.hg19:g.18500589T>C NA Q9BUM5 hg19 0.02 1.581987 TCAxTCT COVERED NOVEL TSG101-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395905.2 15 13.841687 KEEP 0 0 0 46 1467 TT 1 0.999881 0 - 4 60 133 1 0 8.252052 79 60 2285 192 ENST00000536719.1 0.048193 0.999881 E2F8 79733 __UNKNOWN__ __UNKNOWN__ 11 19253704 19253704 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:19253704A>T ENST00000527884.1 - 7 1299 RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Intron NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 NA NA cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707) nucleus (GO:0005634)|transcription factor complex (GO:0005667) core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 gaggggaacaacacacactgg 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7849.1 11p15 2008-02-05 ENSG00000129173 ENSG00000129173 79733 24727 protein-coding gene gene with protein product 612047 NA 15722552 Standard NM_024680 NM_024680 NA Approved FLJ23311 uc001mpo.2 A0AVK6 OTTHUMG00000166102 ENST00000527884.1:c.1066+76T>A chr11.hg19:g.19253704A>T NA A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0 hg19 CCDS7849.1 0.02 1.239509 ACAxCAC COVERED NOVEL E2F8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387830.1 10 4.847551 KEEP 0 1 25 25 801 AA 0.999957 0.999896 0 - 5 60 141 0 0 8.218853 81 60 2430 165 ENST00000527884.1 0.05814 0.99994 HTATIP2 10553 __UNKNOWN__ __UNKNOWN__ 11 20392453 20392453 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:20392453C>T ENST00000451739.2 + 2 744 HTATIP2_ENST00000443524.2_Intron|HTATIP2_ENST00000531058.1_Intron|HTATIP2_ENST00000421577.2_Intron|HTATIP2_ENST00000419348.2_Intron NM_001098522.1 NP_001091992.1 HIV-1 Tat interactive protein 2, 30kDa NA NA large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 tcttggcctcccaaagtgctg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039103 CCDS7852.1, CCDS44553.1, CCDS53613.1 11p15.1 2011-09-14 2002-08-29 ENSG00000109854 ENSG00000109854 10553 1.1.1.- Short chain dehydrogenase/reductase superfamily / Atypical members 16637 protein-coding gene gene with protein product Tat-interacting protein (30kD), short chain dehydrogenase/reductase family 44U, member 1 605628 HIV-1 Tat interactive protein 2, 30 kDa NA 9482853, 9174052, 19027726 Standard NM_001098521 NM_006410 NA Approved TIP30, CC3, FLJ26963, SDR44U1 uc001mpx.2 Q9BUP3 OTTHUMG00000166015 ENST00000451739.2:c.303+3626C>T chr11.hg19:g.20392453C>T NA hg19 CCDS7852.1 0.02 -0.149114 CTCxCAA COVERED NOVEL HTATIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387445.2 4 2.708919 KEEP 4 0 0 9 325 CC 0.99254 0.289823 0 + 4 47 129 0 1 10.901533 12 60 408 46 ENST00000451739.2 0.25 0.292001 HTATIP2 10553 __UNKNOWN__ __UNKNOWN__ 11 20392466 20392466 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:20392466A>T ENST00000451739.2 + 2 744 HTATIP2_ENST00000443524.2_Intron|HTATIP2_ENST00000531058.1_Intron|HTATIP2_ENST00000421577.2_Intron|HTATIP2_ENST00000419348.2_Intron NM_001098522.1 NP_001091992.1 HIV-1 Tat interactive protein 2, 30kDa NA NA large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 aagtgctgggattacaggcgt 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039103 CCDS7852.1, CCDS44553.1, CCDS53613.1 11p15.1 2011-09-14 2002-08-29 ENSG00000109854 ENSG00000109854 10553 1.1.1.- Short chain dehydrogenase/reductase superfamily / Atypical members 16637 protein-coding gene gene with protein product Tat-interacting protein (30kD), short chain dehydrogenase/reductase family 44U, member 1 605628 HIV-1 Tat interactive protein 2, 30 kDa NA 9482853, 9174052, 19027726 Standard NM_001098521 NM_006410 NA Approved TIP30, CC3, FLJ26963, SDR44U1 uc001mpx.2 Q9BUP3 OTTHUMG00000166015 ENST00000451739.2:c.303+3639A>T chr11.hg19:g.20392466A>T NA hg19 CCDS7852.1 0.02 -0.149096 GGGxTTA COVERED NOVEL HTATIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387445.2 5 3.008407 KEEP 4 0 0 10 301 AA 0.992708 0.289872 0 + 4 47 122 0 0 10.471165 10 60 307 47 ENST00000451739.2 0.285714 0.292001 RP11-1L12.3 0 __UNKNOWN__ __UNKNOWN__ 11 27214586 27214586 __UNKNOWN__ RNA SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:27214586T>G ENST00000530430.1 - 0 564 RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA NA NA NA gtttcgccattttggccaggc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000530430.1: chr11.hg19:g.27214586T>G NA hg19 0.02 -0.131541 CATxTTG COVERED NOVEL RP11-1L12.3-004 KNOWN basic antisense NA antisense OTTHUMT00000387955.1 2 2.406775 KEEP 0 0 0 8 240 TT 0.99257 0.22747 0 - 3 60 98 0 0 8.073263 11 60 308 24 ENST00000530430.1 0.214286 0.229173 METTL15 196074 __UNKNOWN__ __UNKNOWN__ 11 28145602 28145602 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:28145602C>G ENST00000407364.3 + 3 622 METTL15_ENST00000303459.6_Intron|METTL15_ENST00000406787.3_Intron|METTL15_ENST00000342303.5_Intron|METTL15_ENST00000403099.1_Intron A6NJ78 MET15_HUMAN methyltransferase like 15 NA NA methyltransferase activity (GO:0008168) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 14 GTGTTTTGTGCAAAGTATCAT 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832668 CCDS31450.1, CCDS44559.1, CCDS73269.1 11p14.1 2011-03-02 2011-03-02 2011-03-02 ENSG00000169519 ENSG00000169519 196074 26606 protein-coding gene gene with protein product methyltransferase 5 domain containing 1 METT5D1 NA 12477932 Standard NM_152636 NM_152636 NA Approved FLJ33979 uc001msh.2 A6NJ78 OTTHUMG00000150448 ENST00000407364.3:c.270+10451C>G chr11.hg19:g.28145602C>G NA A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7 hg19 CCDS44559.1 0.02 -0.157894 GTGxAAA COVERED NOVEL METTL15-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318135.2 1 8.727091 KEEP 0 0 0 29 968 CC 0.999997 0.322806 0 + 9 60 286 0 0 27.474507 9 60 296 47 ENST00000407364.3 0.5 0.322807 EIF3M 10480 __UNKNOWN__ __UNKNOWN__ 11 32625744 32625744 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:32625744T>C ENST00000531120.1 + 0 2987 CCDC73_ENST00000335185.5_Intron NM_006360.4 NP_006351.2 eukaryotic translation initiation factor 3, subunit M NA NA breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 Breast(20;0.109) tcacagctcattgcagccttg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131064 CCDS7880.1 11p13 2012-12-13 2007-07-27 2007-07-27 ENSG00000149100 ENSG00000149100 10480 24460 protein-coding gene gene with protein product transport and golgi organization 7 homolog (Drosophila) 609641 PCI domain containing 1 (herpesvirus entry mediator) PCID1 NA 15919898, 15919899 Standard NM_006360 NM_006360 NA Approved hfl-B5, FLJ29030, GA17, eIF3m, TANGO7 uc001mtu.4 Q7L2H7 OTTHUMG00000166258 ENST00000531120.1:c.*1799T>C chr11.hg19:g.32625744T>C NA hg19 CCDS7880.1 0.02 1.666319 TCAxTGC COVERED NOVEL EIF3M-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388762.2 8 12.638495 KEEP 0 0 0 42 1346 TT 1 0.997163 0 + 5 60 146 0 0 9.452045 57 60 1708 131 ENST00000531120.1 0.080645 0.997163 PRRG4 79056 __UNKNOWN__ __UNKNOWN__ 11 32875135 32875135 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:32875135T>C ENST00000257836.3 + 0 996 NM_024081.5 NP_076986.1 Q9BZD6 TMG4_HUMAN proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) NA NA extracellular region (GO:0005576)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509) large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 7 Breast(20;0.206) tggtggctcatgcctgtaatc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF326351 CCDS7881.1 11p13 2008-02-05 ENSG00000135378 ENSG00000135378 79056 30799 protein-coding gene gene with protein product 611690 NA 11171957 Standard NM_024081 NM_024081 NA Approved TMG4 uc001mtx.3 Q9BZD6 OTTHUMG00000166219 ENST00000257836.3:c.*62T>C chr11.hg19:g.32875135T>C NA hg19 CCDS7881.1 0.02 5.698129 TCAxGCC COVERED NOVEL PRRG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388446.1 28 12.092901 KEEP 5 3 70 65 2031 TT 1 1 0 + 7 60 236 0 0 14.901148 132 60 3951 319 ENST00000257836.3 0.05036 1 PRRG4 79056 __UNKNOWN__ __UNKNOWN__ 11 32875330 32875330 __UNKNOWN__ 3'UTR SNP C C T rs111804592 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:32875330C>T ENST00000257836.3 + 0 1191 NM_024081.5 NP_076986.1 Q9BZD6 TMG4_HUMAN proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) NA NA extracellular region (GO:0005576)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509) large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 7 Breast(20;0.206) gctgagatcacgccactgcat 0.478 NA C||| 30 0.00599042 0.0212 0.0029 5008 , , NA 18173 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF326351 CCDS7881.1 11p13 2008-02-05 ENSG00000135378 ENSG00000135378 79056 30799 protein-coding gene gene with protein product 611690 NA 11171957 Standard NM_024081 NM_024081 NA Approved TMG4 uc001mtx.3 Q9BZD6 OTTHUMG00000166219 ENST00000257836.3:c.*257C>T chr11.hg19:g.32875330C>T NA hg19 CCDS7881.1 0.02 -0.236831 TCAxGCC COVERED NOVEL PRRG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388446.1 10 2.400295 KEEP 0 0 0 8 257 CC 0.99257 0.607857 0 + 3 60 92 0 0 6.765388 20 60 646 46 ENST00000257836.3 0.130435 0.612407 TCP11L1 55346 __UNKNOWN__ __UNKNOWN__ 11 33096811 33096811 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:33096811T>C ENST00000324357.9 + 5 856 Q9NUJ3 T11L1_HUMAN t-complex 11, testis-specific-like 1 NA NA microtubule (GO:0005874) kidney(1)|liver(2)|lung(2)|skin(1) 6 ggctggagtgtggtggcgcga 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC041696 CCDS7882.1 11p13 2014-08-12 2012-09-20 ENSG00000176148 ENSG00000176148 55346 25655 protein-coding gene gene with protein product t-complex 11 (mouse) like 1 NA Standard NM_018393 NM_001145541 NA Approved FLJ11336 uc010rei.2 Q9NUJ3 OTTHUMG00000165303 ENST00000324357.9:c.844+2612T>C chr11.hg19:g.33096811T>C NA D3DR01|Q8IVX4 hg19 0.02 1.716821 GTGxGGT COVERED NOVEL TCP11L1-201 KNOWN basic protein_coding NA protein_coding 9 6.918844 KEEP 0 0 0 23 684 TT 0.999892 0.99966 0 + 4 60 138 0 0 8.862166 74 60 2155 148 ENST00000324357.9 0.051282 0.999768 CSTF3 1479 __UNKNOWN__ __UNKNOWN__ 11 33178325 33178325 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:33178325A>C ENST00000323959.4 - 1 167 CSTF3_ENST00000524827.1_Missense_Mutation_p.S18A|CSTF3_ENST00000431742.2_Intron|CSTF3_ENST00000438862.2_Intron|CSTF3_ENST00000526480.1_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 ccagcctgggaaacacagtga 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U15782 CCDS7883.1, CCDS44563.1, CCDS44564.1 11p13 2007-01-05 2002-08-29 ENSG00000176102 ENSG00000176102 1479 2485 protein-coding gene gene with protein product 600367 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD NA 7984242 Standard NM_001326 XM_006718154 NA Approved CstF-77 uc001muh.3 Q12996 OTTHUMG00000166268 ENST00000323959.4:c.27+4519T>G chr11.hg19:g.33178325A>C NA A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4 hg19 CCDS7883.1 0.02 -0.377106 GGGxAAC COVERED . . . . . . . . . . A 1.676 -0.507808 0.04231 . . ENSG00000176102 ENST00000524827 T 0.01335 5.0 0.149 0.149 0.14863 . . . . . T 0.00608 0.0020 . . . 0.09310 N 1 . . . . . . T 0.46428 -0.9192 5 0.02654 T 1 . . . . . . . . A 18 ENSP00000431355:S18A ENSP00000431355:S18A S - 1 0 CSTF3 33134901 0.001000 0.12720 0.072000 0.20136 0.152000 0.21847 0.580000 0.23803 0.166000 0.19597 0.164000 0.16699 TCC NOVEL CSTF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388801.1 6 5.416677 KEEP 0 0 0 18 579 AA 0.999859 0.908941 0 - 3 60 99 0 0 6.706489 37 60 1090 78 ENST00000323959.4 0.075 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 34542334 34542334 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:34542334T>C NA NA ELF5 (6982 upstream) : RP4-594L9.2 (12226 downstream) NA NA NA ggattacaggtgtgagccacc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.34542334T>C NA hg19 0.02 -0.280659 AGGxGTG COVERED NOVEL 0 5 3.610137 KEEP 0 0 0 12 361 TT 0.993634 0.734962 0 3 60 103 1 0 7.452526 28 60 828 67 0.096774 0.739671 CD44 960 __UNKNOWN__ __UNKNOWN__ 11 35209519 35209519 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:35209519C>T ENST00000352818.4 + 4 436 CD44_ENST00000263398.6_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Intron|CD44_ENST00000428726.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Intron|CD44_ENST00000437706.2_Intron P16070 CD44_HUMAN CD44 molecule (Indian blood group) NA NA blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246) basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronan(DB08818) cccaaagtgccaggattacag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M59040 CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1 11p13 2014-07-18 2006-03-28 ENSG00000026508 ENSG00000026508 960 CD molecules, Blood group antigens, Proteoglycans / Cell surface : Other 1681 protein-coding gene gene with protein product hematopoietic cell E- and L-selectin ligand, chondroitin sulfate proteoglycan 8 107269 CD44 antigen (homing function and Indian blood group system) MIC4, MDU2, MDU3 NA 2454887 Standard NM_000610 NM_001202555 NA Approved IN, MC56, Pgp1, CD44R, HCELL, CSPG8 uc001mvu.3 P16070 OTTHUMG00000044388 ENST00000352818.4:c.436+1072C>T chr11.hg19:g.35209519C>T NA A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36 hg19 CCDS55755.1 0.02 -0.192886 TGCxAGG COVERED NOVEL CD44-007 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000388932.1 7 2.395545 KEEP 1 0 0 8 257 CC 0.99257 0.454356 0 + 4 60 99 0 0 8.029467 11 60 384 40 ENST00000352818.4 0.266667 0.457757 TTC17 55761 __UNKNOWN__ __UNKNOWN__ 11 43411903 43411903 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:43411903A>G ENST00000039989.4 + 3 433 RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Intron NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 NA NA actin filament polymerization (GO:0030041)|cilium organization (GO:0044782) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 ggtggctcacacctgtaatcc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001540 CCDS31466.1 11p11.2 2013-01-10 ENSG00000052841 ENSG00000052841 55761 Tetratricopeptide (TTC) repeat domain containing 25596 protein-coding gene gene with protein product NA 12477932 Standard NM_018259 NM_018259 NA Approved FLJ10890 uc001mxi.3 Q96AE7 OTTHUMG00000166398 ENST00000039989.4:c.419+532A>G chr11.hg19:g.43411903A>G NA G3XAB3|Q8NEC0 hg19 CCDS31466.1 0.02 -0.245553 CACxCCT COVERED NOVEL TTC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389577.2 5 3.301495 KEEP 0 0 0 11 309 AA 0.993072 0.636904 0 + 4 60 136 0 0 10.591299 23 60 661 52 ENST00000039989.4 0.148148 0.641347 TTC17 55761 __UNKNOWN__ __UNKNOWN__ 11 43500389 43500389 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:43500389A>G ENST00000039989.4 + 22 3044 NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 NA NA actin filament polymerization (GO:0030041)|cilium organization (GO:0044782) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 tgttgcccagactggtctcaa 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001540 CCDS31466.1 11p11.2 2013-01-10 ENSG00000052841 ENSG00000052841 55761 Tetratricopeptide (TTC) repeat domain containing 25596 protein-coding gene gene with protein product NA 12477932 Standard NM_018259 NM_018259 NA Approved FLJ10890 uc001mxi.3 Q96AE7 OTTHUMG00000166398 ENST00000039989.4:c.3031-11400A>G chr11.hg19:g.43500389A>G NA G3XAB3|Q8NEC0 hg19 CCDS31466.1 0.02 -0.078936 CAGxCTG UNCOVERED NOVEL TTC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389577.2 1 2.407432 KEEP 0 0 0 8 254 AA 0.99257 0.076761 0 + 3 60 98 0 0 8.743765 6 60 177 24 ENST00000039989.4 0.333333 0.077336 AMBRA1 55626 __UNKNOWN__ __UNKNOWN__ 11 46433207 46433207 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:46433207T>C ENST00000314845.3 - 17 3206 AMBRA1_ENST00000533727.1_Intron|AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000458649.2_Intron|AMBRA1_ENST00000528950.1_Intron|AMBRA1_ENST00000426438.1_Intron NM_017749.3 NP_060219.2 Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 NA NA autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915) axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335) NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) ttagtagagatggggtttcac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051523 CCDS31475.1, CCDS58132.1, CCDS73281.1 11p11.2 2013-01-09 ENSG00000110497 ENSG00000110497 55626 WD repeat domain containing, DDB1 and CUL4 associated factors 25990 protein-coding gene gene with protein product WD repeat domain 94, DDB1 and CUL4 associated factor 3 611359 NA 17622796, 17603510, 17589504 Standard NM_017749 NM_001267782 NA Approved FLJ20294, KIAA1736, WDR94, DCAF3 uc001ncv.3 Q9C0C7 OTTHUMG00000166500 ENST00000314845.3:c.2847-1289A>G chr11.hg19:g.46433207T>C NA A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7 hg19 CCDS31475.1 0.02 -0.096451 AGAxGGG UNCOVERED NOVEL AMBRA1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390099.1 8 2.407038 KEEP 4 0 0 8 243 TT 0 0 0 - 3 60 86 0 0 7.378716 7 60 194 25 ENST00000314845.3 0.3 0.120436 AGBL2 79841 __UNKNOWN__ __UNKNOWN__ 11 47727210 47727210 __UNKNOWN__ Intron SNP G G A rs371692928 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:47727210G>A ENST00000528244.1 - 5 540 AGBL2_ENST00000357610.3_Intron|AGBL2_ENST00000529712.1_Intron|AGBL2_ENST00000525123.1_Intron|AGBL2_ENST00000298861.4_Intron Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 NA NA cytosol (GO:0005829) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 aaaaaaaaaagaaaaagaaaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 3 4 4 NA NA NA 11 NA NA 47727210 591 694 1285 SO:0001627 intron_variant CCDS7944.1 11p11.2 2014-06-23 ENSG00000165923 ENSG00000165923 79841 26296 protein-coding gene gene with protein product cytoplasmic carboxypeptidase 2 NA 12738998, 21303978 Standard NM_024783 NM_024783 NA Approved FLJ23598, CCP2 uc001ngg.3 Q5U5Z8 OTTHUMG00000165368 ENST00000528244.1:c.286+205C>T chr11.hg19:g.47727210G>A NA A8MPX2|Q53FV5|Q8IV57|Q9H5C0 hg19 0.02 1.261282 AAAxAAA COVERED NOVEL AGBL2-003 NOVEL non_canonical_conserved|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000383727.1 13 3.786544 KEEP 2 3 70 38 1212 GG 1 0.989542 0 - 6 60 131 0 0 8.384744 40 60 1250 141 ENST00000528244.1 0.130435 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 48453689 48453689 __UNKNOWN__ IGR SNP G G C rs550630871 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:48453689G>C NA NA OR4C5 (65672 upstream) : OR4A47 (56579 downstream) NA NA NA atagtttgctgagaatgatgg 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.48453689G>C NA hg19 0.02 -0.149122 GCTxAGA COVERED NOVEL 0 1 2.344466 KEEP 0 1 38 21 731 GG 0.999879 0.291966 0 3 60 91 0 0 7.27234 12 60 392 42 0.2 0.292001 OR4P4 81300 __UNKNOWN__ __UNKNOWN__ 11 55406044 55406044 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:55406044T>C ENST00000314612.2 + 1 211 c.211T>C c.(211-213)Tac>Cac p.Y71H NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 71 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 CGACCTTTGCTACACATCCAC 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 155 134 141 NA NA NA 11 NA NA 55406044 2179 4029 6208 SO:0001583 missense AB065775 CCDS31504.1 11q11 2012-08-09 ENSG00000181927 ENSG00000181927 81300 GPCR / Class A : Olfactory receptors 15180 protein-coding gene gene with protein product OR4P3P NA Standard NM_001004124 NM_001004124 NA Approved uc010rij.2 Q8NGL7 OTTHUMG00000165300 ENST00000314612.2:c.211T>C chr11.hg19:g.55406044T>C ENSP00000324831:p.Tyr71His NA hg19 CCDS31504.1 0.02 2.114331 TGCxACA COVERED . . . . . . . . . . T 10.32 1.316989 0.23908 . . ENSG00000181927 ENST00000314612 T 0.00397 7.57 5.18 4.04 0.47022 GPCR, rhodopsin-like superfamily (1); 0.207467 0.24393 N 0.038904 T 0.00845 0.0028 M 0.83692 2.655 0.09310 N 1 D 0.69078 0.997 D 0.75484 0.986 T 0.42292 -0.9460 10 0.72032 D 0.01 -4.7358 6.0755 0.19913 0.0:0.0837:0.1659:0.7504 . 71 Q8NGL7 OR4P4_HUMAN H 71 ENSP00000324831:Y71H ENSP00000324831:Y71H Y + 1 0 OR4P4 55162620 0.004000 0.15560 0.010000 0.14722 0.009000 0.06853 1.146000 0.31589 0.784000 0.33661 0.519000 0.50382 TAC NOVEL OR4P4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383356.1 1 17.748644 KEEP 0 0 0 59 1804 TT 1 0.973965 0 + 20 60 686 0 0 63.310842 31 60 922 163 ENST00000314612.2 0.392157 0.973965 CLP1 10978 __UNKNOWN__ __UNKNOWN__ 11 57426805 57426805 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:57426805G>C ENST00000302731.4 + 2 98 CLP1_ENST00000525602.1_Intron|CLP1_ENST00000533682.1_Intron|CLP1_ENST00000529430.1_Intron NM_001142597.1|NM_006831.2 NP_001136069.1|NP_006822.1 Q5KU26 COL12_HUMAN cleavage and polyadenylation factor I subunit 1 NA NA carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898) collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 aagtgatccagccacctcggc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000446 CCDS7964.1, CCDS44600.1 11q12.1 2012-10-02 2012-10-02 ENSG00000172409 ENSG00000172409 10978 2.7.1.78 16999 protein-coding gene gene with protein product ATP/GTPbinding protein, polyribonucleotide 5'-hydroxyl-kinase 608757 CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) NA 8896421, 11060040 Standard NM_006831 NM_006831 NA Approved HEAB, hClp1 uc001nkw.3 Q92989 OTTHUMG00000167146 ENST00000302731.4:c.-22-122G>C chr11.hg19:g.57426805G>C NA Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7 hg19 CCDS44600.1 0.02 1.701269 CCAxCCA COVERED NOVEL CLP1-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000393465.1 15 5.288696 KEEP 0 2 67 41 1502 GG 1 0.995687 0 + 4 60 132 0 1 8.759977 55 70 1867 139 ENST00000302731.4 0.067797 0.995687 FAM111B 374393 __UNKNOWN__ __UNKNOWN__ 11 58894074 58894074 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:58894074A>G ENST00000343597.3 + 0 2695 FAM111B_ENST00000411426.1_3'UTR NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B NA NA catalytic activity (GO:0003824) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 gacatgaacaaacacttttca 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC062456 CCDS7972.1, CCDS44611.1 11q12.1 2014-03-13 ENSG00000189057 ENSG00000189057 374393 24200 protein-coding gene gene with protein product 615584 NA 24268661 Standard NM_198947 NM_198947 NA Approved CANP uc001nnl.3 Q6SJ93 OTTHUMG00000167279 ENST00000343597.3:c.*299A>G chr11.hg19:g.58894074A>G NA B4E2G2|Q6P661 hg19 CCDS7972.1 0.02 5.872897 ACAxACA COVERED NOVEL FAM111B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393974.1 21 19.190174 KEEP 0 4 129 109 3323 AA 1 1 0 + 8 60 277 1 0 17.355801 170 60 4840 383 ENST00000343597.3 0.044944 1 FAM111B 374393 __UNKNOWN__ __UNKNOWN__ 11 58894475 58894475 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:58894475G>A ENST00000343597.3 + 0 3096 FAM111B_ENST00000411426.1_3'UTR NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B NA NA catalytic activity (GO:0003824) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 cccatcaatggtagactggat 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC062456 CCDS7972.1, CCDS44611.1 11q12.1 2014-03-13 ENSG00000189057 ENSG00000189057 374393 24200 protein-coding gene gene with protein product 615584 NA 24268661 Standard NM_198947 NM_198947 NA Approved CANP uc001nnl.3 Q6SJ93 OTTHUMG00000167279 ENST00000343597.3:c.*700G>A chr11.hg19:g.58894475G>A NA B4E2G2|Q6P661 hg19 CCDS7972.1 0.02 -0.245583 ATGxTAG COVERED NOVEL FAM111B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393974.1 5 2.341459 KEEP 0 1 29 18 604 GG 0.99986 0.641257 0 + 4 60 103 0 0 7.439249 21 60 684 47 ENST00000343597.3 0.16 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 59272068 59272068 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:59272068A>G NA NA OR4D11 (84 upstream) : OR4D9 (10317 downstream) NA NA NA catgaggtcaagagatcgaga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.59272068A>G NA hg19 0.02 1.906236 TCAxGAG COVERED NOVEL 0 3 10.831651 KEEP 1 0 0 36 1112 AA 1 0.976865 0 5 60 160 0 0 11.242469 47 60 1380 103 0.096154 0.976865 MRPL16 54948 __UNKNOWN__ __UNKNOWN__ 11 59578291 59578291 __UNKNOWN__ 5'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:59578291G>T ENST00000300151.4 - 0 54 NM_017840.3 NP_060310.1 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 NA NA translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|endometrium(1)|liver(1)|lung(8) 11 GCAGAGTCCCGACGGAAGCGA 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF183428 CCDS7976.1 11q12.1 2012-09-13 ENSG00000166902 ENSG00000166902 54948 Mitochondrial ribosomal proteins / large subunits 14476 protein-coding gene gene with protein product 611829 NA Standard NM_017840 NM_017840 NA Approved FLJ20484, PNAS-111 uc001noh.2 Q9NX20 OTTHUMG00000167410 ENST00000300151.4:c.-160C>A chr11.hg19:g.59578291G>T NA Q9BYD0|Q9HB70 hg19 CCDS7976.1 0.02 7.206988 CCCxACG COVERED NOVEL MRPL16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394521.1 2 51.455372 KEEP 0 0 0 171 5758 GG 1 1 0 - 97 60 2753 0 0 247.786837 159 60 5037 598 ENST00000300151.4 0.378906 1 MS4A14 84689 __UNKNOWN__ __UNKNOWN__ 11 60167742 60167742 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:60167742T>G ENST00000531783.1 + 3 358 MS4A14_ENST00000395001.1_Intron|MS4A14_ENST00000395005.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000300187.6_Intron NM_001261828.1 NP_001248757.1 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 NA NA integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 CCTTCCCTACTCCCTGATGCT 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY584610 CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1 11q12.2 2008-04-10 2008-04-10 2008-04-10 ENSG00000166928 84689 30706 protein-coding gene gene with protein product membrane-spanning 4-domains, subfamily A, member 16 MS4A16 NA Standard NM_032597 NA Approved NYD-SP21, FLJ32856, DKFZp434H092 uc031qbd.1 Q96JA4 ENST00000531783.1:c.268-135T>G chr11.hg19:g.60167742T>G NA E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2 hg19 CCDS58136.1 0.02 -0.324534 TACxCCC COVERED NOVEL MS4A14-007 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395389.1 0 5.114579 KEEP 0 0 0 17 511 TT 0.999366 0.835186 0 + 12 60 397 0 0 35.301809 25 60 747 81 ENST00000531783.1 0.324324 0.835716 MS4A14 84689 __UNKNOWN__ __UNKNOWN__ 11 60167743 60167743 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:60167743C>A ENST00000531783.1 + 3 358 MS4A14_ENST00000395001.1_Intron|MS4A14_ENST00000395005.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000300187.6_Intron NM_001261828.1 NP_001248757.1 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 NA NA integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 CTTCCCTACTCCCTGATGCTC 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY584610 CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1 11q12.2 2008-04-10 2008-04-10 2008-04-10 ENSG00000166928 84689 30706 protein-coding gene gene with protein product membrane-spanning 4-domains, subfamily A, member 16 MS4A16 NA Standard NM_032597 NA Approved NYD-SP21, FLJ32856, DKFZp434H092 uc031qbd.1 Q96JA4 ENST00000531783.1:c.268-134C>A chr11.hg19:g.60167743C>A NA E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2 hg19 CCDS58136.1 0.02 -0.324554 ACTxCCT COVERED NOVEL MS4A14-007 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395389.1 0 5.115771 KEEP 0 0 0 17 566 CC 0.999366 0.835186 0 + 12 60 361 0 0 31.872641 24 60 800 82 ENST00000531783.1 0.333333 0.835716 MS4A5 64232 __UNKNOWN__ __UNKNOWN__ 11 60199998 60199998 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:60199998T>C ENST00000300190.2 + 3 425 MS4A5_ENST00000534071.1_Intron NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 NA NA integral component of membrane (GO:0016021) large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 tggtggctcatacctgtaatc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 17 16 16 NA NA NA 11 NA NA 60199998 692 1589 2281 SO:0001627 intron_variant AB013103 CCDS7987.1 11q12 2008-03-25 ENSG00000166930 ENSG00000166930 64232 13374 protein-coding gene gene with protein product 606499 NA 11245982, 11401424 Standard NM_023945 NA Approved CD20L2 uc001npo.3 Q9H3V2 OTTHUMG00000167613 ENST00000300190.2:c.339+58T>C chr11.hg19:g.60199998T>C NA Q9BZH1 hg19 CCDS7987.1 0.02 -0.280453 TCAxACC COVERED NOVEL MS4A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395392.1 6 3.610711 KEEP 1 0 0 12 366 TT 0.993634 0.734962 0 + 3 60 103 0 0 7.593372 25 60 654 54 ENST00000300190.2 0.107143 0.739671 DDB1 1642 __UNKNOWN__ __UNKNOWN__ 11 61067254 61067254 __UNKNOWN__ 3'UTR SNP T T C rs572476486|rs371581768|rs1132797 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61067254T>C ENST00000301764.7 - 0 4174 DDB1_ENST00000451943.2_3'UTR|DDB1_ENST00000450997.2_3'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa NA NA DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) damaged DNA binding (GO:0003684)|DNA binding (GO:0003677) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GAGATacacatacacacacac 0.468 NA Nucleotide excision repair (NER) T||| 368 0.0734824 0.1921 0.0519 5008 , , NA 21275 0.0278 NA 0.002 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ002955 CCDS31576.1 11q12-q13 2014-09-17 2002-08-29 ENSG00000167986 ENSG00000167986 1642 2717 protein-coding gene gene with protein product 600045 damage-specific DNA binding protein 1 (127kD) NA 8530102, 10574459 Standard NM_001923 NM_001923 NA Approved XPE uc001nrc.5 Q16531 OTTHUMG00000168209 ENST00000301764.7:c.*354A>G chr11.hg19:g.61067254T>C NA A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96 hg19 CCDS31576.1 0.02 -0.403255 ACAxACA COVERED NOVEL DDB1-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398816.1 1 5.648854 KEEP 0 1 35 31 935 TT 0.999997 0.93449 0 - 4 60 127 1 1 8.761566 41 60 1133 90 ENST00000301764.7 0.088889 0.934492 DDB1 1642 __UNKNOWN__ __UNKNOWN__ 11 61067268 61067268 __UNKNOWN__ 3'UTR SNP T T C rs146394965|rs375900124|rs28720364 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61067268T>C ENST00000301764.7 - 0 4160 DDB1_ENST00000451943.2_3'UTR|DDB1_ENST00000450997.2_3'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa NA NA DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) damaged DNA binding (GO:0003684)|DNA binding (GO:0003677) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 cacacacacatacacacacac 0.478 NA Nucleotide excision repair (NER) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ002955 CCDS31576.1 11q12-q13 2014-09-17 2002-08-29 ENSG00000167986 ENSG00000167986 1642 2717 protein-coding gene gene with protein product 600045 damage-specific DNA binding protein 1 (127kD) NA 8530102, 10574459 Standard NM_001923 NM_001923 NA Approved XPE uc001nrc.5 Q16531 OTTHUMG00000168209 ENST00000301764.7:c.*340A>G chr11.hg19:g.61067268T>C NA A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96 hg19 CCDS31576.1 0.02 -0.38579 ACAxACA COVERED NOVEL DDB1-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398816.1 1 7.82342 KEEP 1 0 0 26 801 TT 0.999957 0.9266 0 - 5 60 176 1 0 13.385886 36 60 982 79 ENST00000301764.7 0.121951 0.92664 TMEM138 51524 __UNKNOWN__ __UNKNOWN__ 11 61134052 61134052 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61134052C>G ENST00000278826.6 + 3 859 TMEM138_ENST00000381787.2_Intron|TMEM138_ENST00000542946.1_3'UTR|TMEM138_ENST00000540194.1_Intron NM_016464.4 NP_057548.1 Q9NPI0 TM138_HUMAN transmembrane protein 138 NA NA cilium assembly (GO:0042384) cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773) central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 caattctcctccctcagtctc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151030 CCDS8005.1 11q12.2 2014-01-28 ENSG00000149483 ENSG00000149483 51524 26944 protein-coding gene gene with protein product 614459 NA Standard NM_016464 NM_016464 NA Approved HSPC196, JBTS16 uc001nrl.2 Q9NPI0 OTTHUMG00000168145 ENST00000278826.6:c.300+364C>G chr11.hg19:g.61134052C>G NA A6NGA7|B4E044|Q5JPE1 hg19 CCDS8005.1 0.02 -0.254387 CCTxCCT COVERED NOVEL TMEM138-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398399.2 2 4.21304 KEEP 0 0 0 14 464 CC 0.995343 0.66541 0 + 3 60 89 0 0 6.350566 22 60 724 49 ENST00000278826.6 0.12 0.668523 TMEM138 51524 __UNKNOWN__ __UNKNOWN__ 11 61135736 61135736 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61135736G>A ENST00000278826.6 + 4 935 TMEM138_ENST00000381787.2_Intron|TMEM138_ENST00000542946.1_3'UTR NM_016464.4 NP_057548.1 Q9NPI0 TM138_HUMAN transmembrane protein 138 NA NA cilium assembly (GO:0042384) cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773) central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 ttgctctgtcgcccaggctgg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151030 CCDS8005.1 11q12.2 2014-01-28 ENSG00000149483 ENSG00000149483 51524 26944 protein-coding gene gene with protein product 614459 NA Standard NM_016464 NM_016464 NA Approved HSPC196, JBTS16 uc001nrl.2 Q9NPI0 OTTHUMG00000168145 ENST00000278826.6:c.376+266G>A chr11.hg19:g.61135736G>A NA A6NGA7|B4E044|Q5JPE1 hg19 CCDS8005.1 0.02 1.535352 GTCxCCC COVERED NOVEL TMEM138-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398399.2 6 8.125746 KEEP 1 0 0 27 929 GG 0.999988 0.970808 0 + 6 60 163 1 2 11.498093 39 60 1226 94 ENST00000278826.6 0.133333 0.97082 CPSF7 79869 __UNKNOWN__ __UNKNOWN__ 11 61186533 61186533 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61186533T>C ENST00000439958.3 - 5 679 CPSF7_ENST00000394888.4_Intron|CPSF7_ENST00000448745.1_Intron|CPSF7_ENST00000340437.4_Intron NM_001142565.1 NP_001136037.1 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 cttgctctgttgcccaggctg 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8006.2, CCDS44619.1, CCDS44620.1 11q12.2 2013-06-18 ENSG00000149532 ENSG00000149532 79869 RNA binding motif (RRM) containing 30098 protein-coding gene gene with protein product pre mRNA cleavage factor I, 59 kDa subunit, cleavage factor Im complex 59 kDa subunit NA 12477932 Standard NM_024811 NM_024811 NA Approved FLJ12529 uc001nrp.3 Q8N684 OTTHUMG00000168198 ENST00000439958.3:c.523+887A>G chr11.hg19:g.61186533T>C NA B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1 hg19 CCDS44620.1 0.02 -0.36704 TGTxGCC COVERED NOVEL CPSF7-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347834.2 7 3.610955 KEEP 0 0 0 12 380 TT 0.993634 0.893588 0 - 5 60 136 1 1 9.661126 33 60 943 76 ENST00000439958.3 0.131579 0.899314 CPSF7 79869 __UNKNOWN__ __UNKNOWN__ 11 61186752 61186752 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61186752T>C ENST00000439958.3 - 5 679 CPSF7_ENST00000394888.4_Intron|CPSF7_ENST00000448745.1_Intron|CPSF7_ENST00000340437.4_Intron NM_001142565.1 NP_001136037.1 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 cctcggcctctcaaagtgctg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8006.2, CCDS44619.1, CCDS44620.1 11q12.2 2013-06-18 ENSG00000149532 ENSG00000149532 79869 RNA binding motif (RRM) containing 30098 protein-coding gene gene with protein product pre mRNA cleavage factor I, 59 kDa subunit, cleavage factor Im complex 59 kDa subunit NA 12477932 Standard NM_024811 NM_024811 NA Approved FLJ12529 uc001nrp.3 Q8N684 OTTHUMG00000168198 ENST00000439958.3:c.523+668A>G chr11.hg19:g.61186752T>C NA B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1 hg19 CCDS44620.1 0.02 1.836058 CTCxCAA COVERED NOVEL CPSF7-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347834.2 10 4.146552 KEEP 0 1 17 20 596 TT 0.999869 0.991964 0 - 5 60 171 0 0 12.091415 53 60 1559 110 ENST00000439958.3 0.086207 0.992094 CPSF7 79869 __UNKNOWN__ __UNKNOWN__ 11 61186769 61186769 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61186769T>C ENST00000439958.3 - 5 679 CPSF7_ENST00000394888.4_Intron|CPSF7_ENST00000448745.1_Intron|CPSF7_ENST00000340437.4_Intron NM_001142565.1 NP_001136037.1 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 gctgggattataggcgtgagc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8006.2, CCDS44619.1, CCDS44620.1 11q12.2 2013-06-18 ENSG00000149532 ENSG00000149532 79869 RNA binding motif (RRM) containing 30098 protein-coding gene gene with protein product pre mRNA cleavage factor I, 59 kDa subunit, cleavage factor Im complex 59 kDa subunit NA 12477932 Standard NM_024811 NM_024811 NA Approved FLJ12529 uc001nrp.3 Q8N684 OTTHUMG00000168198 ENST00000439958.3:c.523+651A>G chr11.hg19:g.61186769T>C NA B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1 hg19 CCDS44620.1 0.02 1.783561 TTAxAGG COVERED NOVEL CPSF7-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347834.2 11 4.847789 KEEP 0 1 37 29 850 TT 0.999997 0.996721 0 - 4 60 133 0 0 8.687716 61 60 1682 133 ENST00000439958.3 0.061538 0.996724 RAB3IL1 5866 __UNKNOWN__ __UNKNOWN__ 11 61664860 61664860 __UNKNOWN__ 3'UTR SNP G G C rs548673149 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61664860G>C ENST00000394836.2 - 0 2196 RAB3IL1_ENST00000301773.5_3'UTR NM_013401.2 NP_037533.2 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 NA NA positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031) Rab guanyl-nucleotide exchange factor activity (GO:0017112) central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 GATGCGTCCAGGTGGGAGCTC 0.607 NA OREG0021017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF084557 CCDS8014.1, CCDS60809.1 11q12.2 2008-02-01 ENSG00000167994 ENSG00000167994 5866 9780 protein-coding gene gene with protein product NA Standard NM_013401 NM_013401 NA Approved uc001nso.4 Q8TBN0 OTTHUMG00000167524 ENST00000394836.2:c.*890C>G chr11.hg19:g.61664860G>C 1055 Q86V32|Q9P1Q8 hg19 CCDS8014.1 0.02 3.569975 CCAxGTG COVERED NOVEL RAB3IL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394917.1 0 27.382082 KEEP 0 0 0 91 3197 GG 1 1 0 - 54 60 1786 0 0 161.996623 95 60 3262 324 ENST00000394836.2 0.362416 1 FTH1 2495 __UNKNOWN__ __UNKNOWN__ 11 61735059 61735059 __UNKNOWN__ 5'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61735059A>C ENST00000529191.1 - 0 44 FTH1_ENST00000273550.7_5'UTR|FTH1_ENST00000529631.1_5'UTR|FTH1_ENST00000526640.1_5'UTR P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 NA NA cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506) NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) CCGTCCAAGCACTGTTGAAGC 0.697 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS41655.1 11q13 2012-10-02 ENSG00000167996 ENSG00000167996 2495 3976 protein-coding gene gene with protein product apoferritin, placenta immunoregulatory factor, proliferation-inducing protein 15 134770 FTHL6 NA 3020541 Standard NM_002032 NM_002032 NA Approved FTH, PLIF, PIG15, FHC uc001nsu.3 P02794 ENST00000529191.1:c.-162T>G chr11.hg19:g.61735059A>C NA B3KNR5|Q3KRA8|Q3SWW1 hg19 0.02 16.284098 AGCxCTG COVERED . . . . . . . . . . . 18.43 3.623016 0.66901 . . ENSG00000167996 ENST00000406545 . . . 4.85 3.7 0.42460 . . . . . T 0.51753 0.1693 . . . 0.80722 D 1 . . . . . . T 0.34229 -0.9837 5 0.15952 T 0.53 . 10.8574 0.46806 0.8585:0.0:0.0:0.1415 . . . . G 8 . ENSP00000384656:V8G V - 2 0 FTH1 61491635 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.887000 0.63156 0.759000 0.33084 0.454000 0.30748 GTG NOVEL FTH1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388520.1 58 16.466879 KEEP 4 24 840 348 10684 AA 1 1 0 - 46 60 1549 0 0 115.179723 349 60 10273 1099 ENST00000529191.1 0.116456 1 FTH1 2495 __UNKNOWN__ __UNKNOWN__ 11 61735080 61735080 __UNKNOWN__ 5'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61735080G>T ENST00000529191.1 - 0 23 FTH1_ENST00000273550.7_5'UTR|FTH1_ENST00000529631.1_5'UTR P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 NA NA cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506) NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) AGGAAACCCCGACGACTCTCG 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS41655.1 11q13 2012-10-02 ENSG00000167996 ENSG00000167996 2495 3976 protein-coding gene gene with protein product apoferritin, placenta immunoregulatory factor, proliferation-inducing protein 15 134770 FTHL6 NA 3020541 Standard NM_002032 NM_002032 NA Approved FTH, PLIF, PIG15, FHC uc001nsu.3 P02794 ENST00000529191.1:c.-183C>A chr11.hg19:g.61735080G>T NA B3KNR5|Q3KRA8|Q3SWW1 hg19 0.02 14.097669 CCCxACG COVERED . . . . . . . . . . . 15.66 2.900201 0.52227 . . ENSG00000167996 ENST00000406545 . . . 4.85 3.67 0.42095 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 2.9295 0.05795 0.2202:0.0:0.4593:0.3205 . . . . X 1 . ENSP00000384656:S1X S - 2 0 FTH1 61491656 0.861000 0.29849 1.000000 0.80357 0.895000 0.52256 0.548000 0.23314 2.366000 0.80165 0.555000 0.69702 TCG NOVEL FTH1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388520.1 53 65.7679 KEEP 3 23 722 472 15625 GG 1 1 0 - 49 60 1442 0 0 98.36734 443 60 14236 1389 ENST00000529191.1 0.099593 1 RP11-810P12.5 0 __UNKNOWN__ __UNKNOWN__ 11 61845593 61845593 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:61845593T>C ENST00000524942.1 - 0 571 NA NA NA ctgcctcggcttcccaaagtg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000524942.1: chr11.hg19:g.61845593T>C NA hg19 0.02 -0.21927 GGCxTCC COVERED NOVEL RP11-810P12.5-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000394848.1 7 2.407187 KEEP 2 0 0 8 250 TT 0.99257 0.54878 0 - 3 42 107 0 0 8.205269 21 60 628 53 ENST00000524942.1 0.125 0.552887 ASRGL1 80150 __UNKNOWN__ __UNKNOWN__ 11 62160058 62160058 __UNKNOWN__ 3'UTR SNP G G A rs200478660 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:62160058G>A ENST00000415229.2 + 0 1444 ASRGL1_ENST00000301776.5_3'UTR|CTD-2531D15.5_ENST00000526045.1_RNA NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 NA NA asparagine catabolic process via L-aspartate (GO:0033345) cytoplasm (GO:0005737)|nucleus (GO:0005634) asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798) endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) aaaaaaaaaagaaaagggaaa 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8019.1 11q12.3 2008-07-18 ENSG00000162174 ENSG00000162174 80150 16448 protein-coding gene gene with protein product asparaginase-like 1 protein 609212 NA Standard NM_001083926 NM_025080 NA Approved FLJ22316, ALP1, ALP uc001ntf.4 Q7L266 OTTHUMG00000167513 ENST00000415229.2:c.*302G>A chr11.hg19:g.62160058G>A NA B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7 hg19 CCDS8019.1 0.02 -0.364784 AAAxAAA COVERED NOVEL ASRGL1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394865.1 12 4.167836 KEEP 0 1 5 16 455 GG 0.999366 0.898744 0 + 6 60 115 2 1 7.249213 34 60 965 98 ENST00000415229.2 0.15 0.899314 C11orf83 0 __UNKNOWN__ __UNKNOWN__ 11 62438338 62438338 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:62438338A>G ENST00000531323.1 + 2 81 C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000431002.2_5'UTR Q6UW78 CK083_HUMAN NA NA extracellular region (GO:0005576) cervix(1)|lung(1)|prostate(1) 3 agccgagatcacgccactgca 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000531323.1:c.-462-418A>G chr11.hg19:g.62438338A>G NA Q5FVD5 hg19 CCDS41658.1 0.02 7.493544 ATCxCGC COVERED NOVEL C11orf83-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394992.2 14 27.518316 KEEP 1 1 39 105 3288 AA 1 1 0 + 9 60 290 0 0 16.975015 212 60 6263 444 ENST00000531323.1 0.040724 1 HNRNPUL2-BSCL2 100534595 __UNKNOWN__ __UNKNOWN__ 11 62478615 62478615 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:62478615T>C ENST00000403734.2 - 14 2391 HNRNPUL2-BSCL2 readthrough NA NA NA tggtggctcatgcctgtaatc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 11q12.3 2013-09-25 ENSG00000234857 ENSG00000234857 100534595 49189 other readthrough NA Standard NR_037946 NA Approved OTTHUMG00000167772 ENST00000403734.2:c.2164-3819A>G chr11.hg19:g.62478615T>C NA hg19 0.02 -0.298146 TCAxGCC COVERED NOVEL HNRNPUL2-BSCL2-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000396207.1 6 2.407306 KEEP 1 0 0 8 249 TT 0.99257 0.775257 0 - 3 60 93 0 0 6.454147 28 60 829 62 ENST00000403734.2 0.096774 0.78106 HNRNPUL2 221092 __UNKNOWN__ __UNKNOWN__ 11 62487749 62487749 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:62487749G>A ENST00000301785.5 - 10 1804 HNRNPUL2-BSCL2_ENST00000403734.2_Intron NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 NA NA membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 tgggcacggtggctcacgcct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41659.1 11q12 2013-07-16 2008-04-18 ENSG00000214753 ENSG00000214753 221092 25451 protein-coding gene gene with protein product HNRPUL2 NA Standard XM_495877 NM_001079559 NA Approved DKFZp762N1910 uc001nuw.3 Q1KMD3 OTTHUMG00000167773 ENST00000301785.5:c.1612-86C>T chr11.hg19:g.62487749G>A NA Q8N3B3 hg19 CCDS41659.1 0.02 -0.385904 GGTxGCT COVERED NOVEL HNRNPUL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396208.2 13 8.423472 KEEP 1 0 0 28 904 GG 0.999988 0.918159 0 - 4 60 108 0 0 6.980152 38 60 1245 81 ENST00000301785.5 0.095238 0.918171 ZBTB3 79842 __UNKNOWN__ __UNKNOWN__ 11 62518615 62518615 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:62518615T>G ENST00000394807.3 - 0 2797 NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 gctcacgcctttaatcccagc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027045 CCDS8034.1 11q12.3 2013-01-09 ENSG00000185670 79842 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 22918 protein-coding gene gene with protein product NA Standard NM_024784 NM_024784 NA Approved FLJ23392 uc001nuz.3 Q9H5J0 ENST00000394807.3:c.*947A>C chr11.hg19:g.62518615T>G NA hg19 CCDS8034.1 0.02 -0.324496 CCTxTAA COVERED NOVEL ZBTB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395342.1 1 4.814749 KEEP 0 0 0 16 507 TT 0.997832 0.833904 0 - 4 60 138 0 0 10.256488 32 60 948 65 ENST00000394807.3 0.111111 0.835716 ZBTB3 79842 __UNKNOWN__ __UNKNOWN__ 11 62519379 62519379 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:62519379T>C ENST00000394807.3 - 0 2033 NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 tgcactccagtctgggtgaca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027045 CCDS8034.1 11q12.3 2013-01-09 ENSG00000185670 79842 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 22918 protein-coding gene gene with protein product NA Standard NM_024784 NM_024784 NA Approved FLJ23392 uc001nuz.3 Q9H5J0 ENST00000394807.3:c.*183A>G chr11.hg19:g.62519379T>C NA hg19 CCDS8034.1 0.02 3.745917 CAGxCTG COVERED NOVEL ZBTB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395342.1 13 6.202654 KEEP 1 3 98 55 1601 TT 1 1 0 - 9 60 299 1 0 20.498058 106 60 2935 277 ENST00000394807.3 0.078261 1 TMEM223 79064 __UNKNOWN__ __UNKNOWN__ 11 62557913 62557913 __UNKNOWN__ 3'UTR SNP G G T rs76936705|rs370883948 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:62557913G>T ENST00000307366.7 - 0 817 TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron NM_001080501.2 NP_001073970.1 A0PJW6 TM223_HUMAN transmembrane protein 223 NA NA integral component of membrane (GO:0016021) NA GTTTTTTtttgtttttttttt 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS44628.1 11q12.3 2008-12-08 ENSG00000168569 79064 28464 protein-coding gene gene with protein product NA Standard NM_001080501 NA Approved MGC3196 uc001nve.2 A0PJW6 ENST00000307366.7:c.*182C>A chr11.hg19:g.62557913G>T NA Q504S0|Q86YD4|Q8WUC5|Q96HG0 hg19 CCDS44628.1 0.02 1.043057 TTTxTTT COVERED NOVEL TMEM223-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395674.1 9 7.41668 KEEP 0 5 95 59 1769 GG 1 0.999948 0 - 9 60 262 0 2 17.762691 82 60 2485 216 ENST00000307366.7 0.098901 0.999948 SLC22A8 9376 __UNKNOWN__ __UNKNOWN__ 11 62766413 62766413 __UNKNOWN__ Silent SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:62766413G>A ENST00000336232.2 - 5 876 c.741C>T c.(739-741)ttC>ttT p.F247F SLC22A8_ENST00000311438.8_Silent_p.F247F|SLC22A8_ENST00000545207.1_Silent_p.F156F|SLC22A8_ENST00000430500.2_Silent_p.F247F|SLC22A8_ENST00000535878.1_Silent_p.F124F|SLC22A8_ENST00000542795.1_5'UTR NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 247 NA glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651) endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495) GGAAGAAGACGAAGAAGGGAA 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 116 107 110 NA NA NA 11 NA NA 62766413 2201 4298 6499 SO:0001819 synonymous_variant AF097491, BC022387 CCDS8042.1, CCDS53643.1, CCDS53644.1 11q12.3 2013-05-22 ENSG00000149452 ENSG00000149452 9376 Solute carriers 10972 protein-coding gene gene with protein product 607581 NA 10049739 Standard NM_004254 NM_004254 NA Approved OAT3 uc001nwo.3 Q8TCC7 OTTHUMG00000167768 ENST00000336232.2:c.741C>T chr11.hg19:g.62766413G>A NA B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1 hg19 CCDS8042.1 0.02 2.653002 GACxAAG COVERED NOVEL SLC22A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396191.1 0 15.947668 KEEP 0 0 0 53 1706 GG 1 1 0 - 6 60 167 0 0 9.053275 123 60 3845 229 ENST00000336232.2 0.046512 1 LGALS12 85329 __UNKNOWN__ __UNKNOWN__ 11 63278022 63278022 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:63278022C>A ENST00000340246.5 + 5 630 LGALS12_ENST00000425950.2_Intron|LGALS12_ENST00000394618.3_Intron|LGALS12_ENST00000255684.5_Intron|LGALS12_ENST00000415491.2_Intron Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 NA NA intrinsic apoptotic signaling pathway (GO:0097193) nucleus (GO:0005634) lactose binding (GO:0030395) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 GCTGACCCGCCCTTCTGGACT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 54 44 47 NA NA NA 11 NA NA 63278022 2201 4298 6499 SO:0001627 intron_variant AF222695 CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1 11q13 2011-08-04 2008-07-25 ENSG00000133317 ENSG00000133317 85329 Lectins, galactoside-binding 15788 protein-coding gene gene with protein product galectin 12 606096 NA 11283015, 11435439 Standard NM_033101 NM_033101 NA Approved GRIP1 uc001nxc.2 Q96DT0 OTTHUMG00000167807 ENST00000340246.5:c.600+49C>A chr11.hg19:g.63278022C>A NA B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02 hg19 CCDS44633.1 0.02 -0.280675 CGCxCTT COVERED NOVEL LGALS12-002 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396379.2 0 4.213592 KEEP 0 0 0 14 484 CC 0.995343 0.736227 0 + 7 60 187 0 0 14.741172 25 60 833 55 ENST00000340246.5 0.21875 0.739671 ATL3 25923 __UNKNOWN__ __UNKNOWN__ 11 63425606 63425606 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:63425606A>G ENST00000538786.1 - 3 633 ATL3_ENST00000332645.4_Intron|ATL3_ENST00000398868.3_Intron|RP11-697H9.2_ENST00000540307.1_RNA Q6DD88 ATLA3_HUMAN atlastin GTPase 3 NA NA endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802) endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 ggtattacagacgtgagccac 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41663.1, CCDS73309.1 11q13.1 2008-09-17 ENSG00000184743 ENSG00000184743 25923 24526 protein-coding gene gene with protein product 609369 NA 18270207 Standard NM_015459 XM_005273891 NA Approved DKFZP564J0863 uc001nxk.1 Q6DD88 OTTHUMG00000167854 ENST00000538786.1:c.351+626T>C chr11.hg19:g.63425606A>G NA Q8N7W5|Q9H8Q5|Q9UFL1 hg19 0.02 -0.288904 CAGxCGT COVERED NOVEL ATL3-002 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000396639.1 5 5.746032 KEEP 0 1 5 21 677 AA 0.999879 0.760795 0 - 4 60 131 0 0 9.837224 27 60 771 57 ENST00000538786.1 0.129032 0.760887 RTN3 10313 __UNKNOWN__ __UNKNOWN__ 11 63493194 63493194 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:63493194A>G ENST00000537981.1 + 2 279 RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Intron|RTN3_ENST00000377819.5_Intron NM_006054.3 NP_006045.1 O95197 RTN3_HUMAN reticulon 3 NA NA apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 aaagtgctggaattacaggca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF059524 CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1 11q13 2011-01-14 ENSG00000133318 ENSG00000133318 10313 10469 protein-coding gene gene with protein product neuroendocrine-specific protein-like 2, NSP-like protein II, isoforme III, ASY interacting protein, homolog of ASY protein 604249 NA 10331947 Standard NM_006054 NM_006054 NA Approved NSPL2, NSPLII, ASYIP, HAP, RTN3-A1 uc001nxq.3 O95197 ENST00000537981.1:c.143-24269A>G chr11.hg19:g.63493194A>G NA B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3 hg19 CCDS8049.1 0.02 -0.236797 TGGxATT COVERED NOVEL RTN3-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397849.1 5 2.407476 KEEP 0 0 0 8 257 AA 0.99257 0.607857 0 + 3 60 96 0 0 7.050069 22 60 657 50 ENST00000537981.1 0.12 0.612407 MARK2 2011 __UNKNOWN__ __UNKNOWN__ 11 63663180 63663180 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:63663180C>T ENST00000509502.2 + 3 652 MARK2_ENST00000377809.4_Intron|MARK2_ENST00000315032.8_Intron|MARK2_ENST00000402010.2_Intron|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000513765.2_Intron|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000502399.3_Intron NM_017490.3 NP_059672.2 MAP/microtubule affinity-regulating kinase 2 NA NA autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 tcactcttgtcgcccaggctg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 29 34 32 NA NA NA 11 NA NA 63663180 692 1591 2283 SO:0001627 intron_variant BC008771 CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1 11q13.1 2013-06-27 2002-07-26 2002-08-01 ENSG00000072518 ENSG00000072518 2011 3332 protein-coding gene gene with protein product ELKL motif kinase 1, serine/threonine kinase, protein-serine/threonine kinase, Ser/Thr protein kinase PAR-1B 600526 ELKL motif kinase EMK1 NA 9730619, 10516437 Standard NM_017490 NM_017490 NA Approved PAR-1, Par1b, PAR-1B uc001nxw.3 Q7KZI7 OTTHUMG00000160504 ENST00000509502.2:c.189+75C>T chr11.hg19:g.63663180C>T NA hg19 CCDS41665.1 0.02 -0.271877 TGTxGCC COVERED NOVEL MARK2-003 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000360862.2 2 2.406995 KEEP 0 0 0 8 244 CC 0.99257 0.711986 0 + 3 40 89 2 0 6.73409 16 60 491 41 ENST00000509502.2 0.157895 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 64305949 64305949 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:64305949T>C NA NA AP005273.1 (33091 upstream) : SLC22A11 (17148 downstream) NA NA NA ggattataggtgtgagccacc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.64305949T>C NA hg19 0.02 -0.157806 AGGxGTG COVERED NOVEL 0 4 2.407211 KEEP 0 0 0 8 250 TT 0.99257 0.320408 0 3 60 100 0 0 7.992503 14 60 380 38 0.176471 0.322807 MEN1 4221 __UNKNOWN__ __UNKNOWN__ 11 64577497 64577497 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:64577497G>C ENST00000377316.2 - 1 460 c.85C>G c.(85-87)Cga>Gga p.R29G MEN1_ENST00000312049.6_Missense_Mutation_p.R29G|MEN1_ENST00000394374.2_Missense_Mutation_p.R29G|MEN1_ENST00000377313.1_Missense_Mutation_p.R29G|MEN1_ENST00000337652.1_Missense_Mutation_p.R29G|MEN1_ENST00000315422.4_Missense_Mutation_p.R29G|MEN1_ENST00000443283.1_Missense_Mutation_p.R29G|MEN1_ENST00000377326.3_Missense_Mutation_p.R29G|MEN1_ENST00000377321.1_Missense_Mutation_p.R29G|MEN1_ENST00000394376.1_Missense_Mutation_p.R29G O00255 MEN1_HUMAN multiple endocrine neoplasia I 29 NA brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403) p.L27fs*84(1)|p.L22_P59del(1)|p.G28_L39del(1)|p.M1fs*82(1)|p.L13fs*86(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GGCTCCTCTCGGCCCAGCTCG 0.662 NA D, Mis, N, F, S parathyroid tumors, Pancreatic neuroendocrine tumors parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(1;83 158 15500 18603 18803 29295) yes Rec yes Multiple Endocrine Neoplasia Type 1 11 11q13 4221 multiple endocrine neoplasia type 1 gene E 5 Deletion - Frameshift(3)|Deletion - In frame(2) pancreas(3)|parathyroid(2) GRCh37 CM981249 MEN1 M 32 34 34 NA NA NA 11 NA NA 64577497 2186 4265 6451 SO:0001583 missense Familial Cancer Database MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism U93236 CCDS8083.1, CCDS31600.1 11q13 2014-09-17 ENSG00000133895 ENSG00000133895 4221 7010 protein-coding gene gene with protein product menin 613733 NA Standard NM_130799 NA Approved uc001obn.3 O00255 OTTHUMG00000045366 ENST00000377316.2:c.85C>G chr11.hg19:g.64577497G>C ENSP00000366533:p.Arg29Gly NA A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2 hg19 0.02 7.962277 CTCxGCC COVERED . . . . . . . . . . G 12.34 1.908211 0.33721 . . ENSG00000133895 ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626;ENST00000429702;ENST00000424912 D;D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.99376 -5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79 4.78 1.52 0.23074 . 0.539912 0.17653 N 0.166620 D 0.95915 0.8670 N 0.14661 0.345 0.28637 N 0.907341 B;B;B 0.10296 0.003;0.0;0.003 B;B;B 0.15052 0.007;0.001;0.012 D 0.92568 0.6064 10 0.27082 T 0.32 -9.8795 9.082 0.36558 0.0:0.2994:0.5465:0.154 . 29;29;29 O00255-2;O00255-3;O00255 .;.;MEN1_HUMAN G 29 ENSP00000366533:R29G;ENSP00000366538:R29G;ENSP00000366543:R29G;ENSP00000308975:R29G;ENSP00000323747:R29G;ENSP00000337088:R29G;ENSP00000377901:R29G;ENSP00000377899:R29G;ENSP00000396940:R29G;ENSP00000366530:R29G;ENSP00000413944:R29G;ENSP00000394933:R29G;ENSP00000411218:R29G;ENSP00000402752:R29G;ENSP00000388016:R29G ENSP00000308975:R29G R - 1 2 MEN1 64334073 1.000000 0.71417 0.985000 0.45067 0.638000 0.38207 2.487000 0.45268 0.502000 0.28037 0.462000 0.41574 CGA NOVEL MEN1-008 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000143886.6 1 55.367924 KEEP 0 0 0 184 6249 GG 1 1 0 - 103 60 3363 0 0 317.740944 123 60 4160 616 ENST00000377316.2 0.455752 1 EHD1 10938 __UNKNOWN__ __UNKNOWN__ 11 64641708 64641708 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:64641708A>G ENST00000320631.3 - 2 757 EHD1_ENST00000359393.2_Intron NM_001282445.1|NM_006795.2 NP_001269374.1|NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 NA NA blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260) early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 cccaggaggcagaggttgcag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF099011 CCDS8084.1, CCDS73315.1 11q13 2013-01-10 ENSG00000110047 ENSG00000110047 10938 EF-hand domain containing 3242 protein-coding gene gene with protein product testilin 605888 PAST1 NA 10395801, 10673336 Standard NM_006795 NM_001282444 NA Approved H-PAST, HPAST1, FLJ42622, FLJ44618 uc001obu.1 Q9H4M9 OTTHUMG00000066832 ENST00000320631.3:c.502+184T>C chr11.hg19:g.64641708A>G NA O14611|Q2M3Q4|Q9UNR3 hg19 CCDS8084.1 0.02 -0.39454 GGCxGAG COVERED NOVEL EHD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143229.2 3 3.523165 KEEP 3 1 26 21 627 AA 0.999863 0.926513 0 - 4 40 125 0 0 9.06374 30 60 855 74 ENST00000320631.3 0.117647 0.92664 C11orf85 283129 __UNKNOWN__ __UNKNOWN__ 11 64738117 64738117 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:64738117A>G ENST00000301896.5 - 1 10 C11orf85_ENST00000536065.1_Intron|C11orf85_ENST00000530444.1_Intron NM_001037225.1 NP_001032302.1 Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 NA NA breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 gattacaggcatgagccaccg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093130, BC033501 CCDS31603.1, CCDS73316.1 11q13.1 2012-08-10 ENSG00000168070 ENSG00000168070 283129 27441 protein-coding gene gene with protein product NA 14702039 Standard NM_001037225 XM_005273918 NA Approved uc001ocb.1 Q3KP22 ENST00000301896.5:c.63+1231T>C chr11.hg19:g.64738117A>G NA B3KS99 hg19 CCDS31603.1 0.02 -0.245575 GGCxTGA COVERED NOVEL C11orf85-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385477.1 9 2.407208 KEEP 1 0 0 8 246 AA 0.99257 0.636582 0 - 4 60 138 0 0 10.936206 21 60 609 49 ENST00000301896.5 0.16 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 64857903 64857903 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:64857903A>G NA NA AP003068.6 (1340 upstream) : VPS51 (5727 downstream) NA NA NA ggaggctgagatgggaggatt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.64857903A>G NA hg19 0.02 1.383255 GAGxTGG COVERED NOVEL 0 11 12.934942 KEEP 0 0 0 43 1353 AA 1 0.999881 0 6 60 192 1 0 12.652626 79 60 2330 152 0.070588 0.999881 CAPN1 823 __UNKNOWN__ __UNKNOWN__ 11 64979476 64979476 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:64979476G>C ENST00000533820.1 + 0 3082 CAPN1_ENST00000279247.6_3'UTR NM_001198868.1 NP_001185797.1 P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit NA NA extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) ATCTGTCTGTGATGTGTTTCT 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X04366 CCDS44644.1 11q13 2013-01-10 ENSG00000014216 ENSG00000014216 823 3.4.22.52 EF-hand domain containing 1476 protein-coding gene gene with protein product 114220 NA 3017764, 2209092 Standard NM_005186 NA Approved muCANP, muCL, CANP, CANPL1 uc009yqd.2 P07384 OTTHUMG00000165614 ENST00000533820.1:c.*719G>C chr11.hg19:g.64979476G>C NA Q2TTR0|Q6DHV4 hg19 CCDS44644.1 0.02 1.812801 TGTxATG COVERED NOVEL CAPN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385306.1 3 6.621418 KEEP 0 0 0 22 772 GG 0.999879 0.998746 0 + 4 60 138 0 0 8.883283 73 60 2423 137 ENST00000533820.1 0.051948 0.998867 FRMD8 83786 __UNKNOWN__ __UNKNOWN__ 11 65180711 65180711 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:65180711A>G ENST00000317568.5 + 0 3438 FRMD8_ENST00000355991.5_3'UTR NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 NA NA cytoskeleton (GO:0005856) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 gcccgcctcaacctcccaaag 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074850 CCDS8102.1, CCDS73320.1 11q13.1 2007-08-14 ENSG00000126391 ENSG00000126391 83786 25462 protein-coding gene gene with protein product NA 12477932 Standard NM_031904 NM_031904 NA Approved FLJ90369, FKSG44 uc001odu.4 Q9BZ67 OTTHUMG00000166275 ENST00000317568.5:c.*1880A>G chr11.hg19:g.65180711A>G NA B4E2P1|Q86V56|Q8NCB5 hg19 CCDS8102.1 0.02 3.994467 TCAxCCT COVERED NOVEL FRMD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388833.1 9 7.82437 KEEP 0 0 0 26 849 AA 0.999957 0.999952 0 + 6 60 205 0 1 13.356016 100 60 2947 170 ENST00000317568.5 0.056604 0.999995 AP000769.1 0 __UNKNOWN__ __UNKNOWN__ 11 65223270 65223270 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:65223270T>C ENST00000309775.7 + 2 220 NA NA NA gcctgtaatctcagcactttg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000309775.7:c.220+218T>C chr11.hg19:g.65223270T>C NA hg19 0.02 1.713272 ATCxCAG COVERED NOVEL AP000769.1-201 NOVEL basic|appris_principal protein_coding NA protein_coding 8 6.857695 KEEP 3 1 38 36 1165 TT 1 0.998867 0 + 5 60 160 0 0 10.570914 65 60 1961 146 ENST00000309775.7 0.071429 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 65697587 65697587 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:65697587T>C NA NA DRAP1 (8555 upstream) : TSGA10IP (15328 downstream) NA NA NA tggtggctcatgcctgtaatc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.65697587T>C NA hg19 0.02 -0.29819 TCAxGCC COVERED NOVEL 0 7 2.708161 KEEP 0 0 0 9 280 TT 0.99254 0.775233 0 3 60 101 0 0 7.344178 26 60 763 66 0.103448 0.78106 TSGA10IP 254187 __UNKNOWN__ __UNKNOWN__ 11 65726709 65726709 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:65726709G>A ENST00000532620.1 + 0 1702 TSGA10IP_ENST00000608857.1_RNA Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein NA NA endometrium(2)|kidney(3)|lung(9) 14 GGTGCTGTCAGCACTGGGGCT 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 23 27 25 NA NA NA 11 NA NA 65726709 2079 4198 6277 AK057442 CCDS66138.1 11q13.1 2014-03-25 ENSG00000175513 ENSG00000175513 254187 26555 protein-coding gene gene with protein product NA 14702039 Standard NM_152762 NM_152762 NA Approved FLJ32880, FAM161C uc001ogk.1 Q3SY00 OTTHUMG00000166753 ENST00000532620.1: chr11.hg19:g.65726709G>A NA Q3SXZ9|Q3SY01|Q96M26 hg19 0.02 -0.315783 TCAxCAC COVERED NOVEL TSGA10IP-001 KNOWN basic processed_transcript NA polymorphic_pseudogene OTTHUMT00000391373.2 0 2.407978 KEEP 0 0 0 8 300 GG 0.99257 0.812384 0 + 11 60 319 0 0 27.524208 25 60 870 58 ENST00000532620.1 0.305556 0.818465 CTD-3074O7.11 0 __UNKNOWN__ __UNKNOWN__ 11 66285749 66285749 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:66285749A>G ENST00000419755.3 + 8 780 BBS1_ENST00000455748.2_Intron|BBS1_ENST00000318312.7_Intron|BBS1_ENST00000537537.1_Intron|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000529766.1_Intron NA NA NA ttatttttgaaacggagtctc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000419755.3:c.703-1339A>G chr11.hg19:g.66285749A>G NA hg19 0.02 -0.438479 TGAxACG COVERED NOVEL CTD-3074O7.11-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000395848.2 9 4.196899 KEEP 1 0 0 14 418 AA 0.994391 0.954475 0 + 3 60 98 0 0 6.361852 45 60 1346 80 ENST00000419755.3 0.0625 0.959859 ZDHHC24 254359 __UNKNOWN__ __UNKNOWN__ 11 66302644 66302644 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:66302644A>G ENST00000526986.1 - 3 791 Q6UX98 ZDH24_HUMAN zinc finger, DHHC-type containing 24 NA NA integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1) 7 gattacaggcatgagccacca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC005015 CCDS8143.1 11q13.2 2008-05-02 ENSG00000174165 254359 Zinc fingers, DHHC-type 27387 protein-coding gene gene with protein product NA Standard NM_207340 NM_207340 NA Approved uc001oin.1 Q6UX98 ENST00000526986.1:c.560-5685T>C chr11.hg19:g.66302644A>G NA Q6PEW7|Q9BSJ0 hg19 0.02 3.282884 GGCxTGA COVERED NOVEL ZDHHC24-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000393088.2 35 4.148397 KEEP 2 1 38 27 843 AA 0.999997 0.999996 0 - 5 60 166 0 0 10.004587 113 60 3298 219 ENST00000526986.1 0.042373 0.999999 ACTN3 89 __UNKNOWN__ __UNKNOWN__ 11 66324495 66324495 __UNKNOWN__ RNA SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:66324495C>G ENST00000502692.1 + 0 1049 ACTN3_ENST00000513398.1_RNA NM_001258371.1 NP_001245300.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) NA NA focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981) actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 gcctcccaaactgctgggatt 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA M86407 11q13.2 2013-10-02 2012-10-05 ENSG00000248746 ENSG00000248746 89 165 protein-coding gene gene with protein product 102574 actinin, alpha 3 NA 1339456 Standard NM_001104 NM_001104 NA Approved uc031qbp.1 Q08043 OTTHUMG00000160815 ENST00000502692.1: chr11.hg19:g.66324495C>G NA A6NP77|Q4KKV2 hg19 0.02 -0.315758 AAAxTGC COVERED NOVEL ACTN3-003 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000362465.1 2 3.611541 KEEP 0 0 0 12 408 CC 0.993634 0.813254 0 + 3 40 97 0 0 6.853147 28 60 900 56 ENST00000502692.1 0.096774 0.818465 KDM2A 22992 __UNKNOWN__ __UNKNOWN__ 11 66896944 66896944 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:66896944A>G ENST00000529006.2 + 2 488 KDM2A_ENST00000398645.2_Intron NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A NA NA histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634) histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ggtggctcacacctgtaatcc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047486 CCDS44657.1, CCDS58148.1 11q13.1 2014-02-18 2009-04-06 2009-04-06 ENSG00000173120 ENSG00000173120 22992 F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases 13606 protein-coding gene gene with protein product F-box protein FBL11, jumonji C domain-containing histone demethylase 1A 605657 F-box and leucine-rich repeat protein 11 FBXL11 NA 10231032, 10531037 Standard NM_012308 NM_012308 NA Approved KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A uc001ojw.3 Q9Y2K7 OTTHUMG00000167103 ENST00000529006.2:c.42+8115A>G chr11.hg19:g.66896944A>G NA D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66 hg19 CCDS44657.1 0.02 -0.280625 CACxCCT COVERED NOVEL KDM2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393140.2 13 2.407049 KEEP 5 0 0 8 244 AA 0.99257 0.734176 0 + 4 60 132 0 0 10.123081 24 60 708 61 ENST00000529006.2 0.142857 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 67636433 67636433 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:67636433T>C NA NA FAM86C2P (71293 upstream) : RP11-119D9.1 (17533 downstream) NA NA NA tgttcagttttcatgtagttg 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.67636433T>C NA hg19 0.02 -0.2719 TTTxCAT COVERED NOVEL 0 0 2.407558 KEEP 0 0 0 8 260 TT 0.99257 0.711986 0 7 60 219 0 0 18.16296 23 60 696 52 0.233333 0.717315 NDUFS8 4728 __UNKNOWN__ __UNKNOWN__ 11 67803172 67803172 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:67803172G>T ENST00000313468.5 + 6 479 NDUFS8_ENST00000526542.1_Intron|NDUFS8_ENST00000528492.1_Intron NM_002496.3 NP_002487.1 O00217 NDUS8_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739) 4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) endometrium(1)|kidney(1)|lung(5)|skin(1) 8 GTTCTTGGCAGATGACGCCAG 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(116;1205 2770 20054) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U65579 CCDS8176.1 11q13.2 2011-07-04 2002-08-29 ENSG00000110717 ENSG00000110717 4728 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7715 protein-coding gene gene with protein product complex I 23kDa subunit, NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial 602141 NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase) NA 9666055, 9116042 Standard NM_002496 NM_002496 NA Approved TYKY, CI-23k uc001onc.3 O00217 OTTHUMG00000167331 ENST00000313468.5:c.373-548G>T chr11.hg19:g.67803172G>T NA B2RB86|Q0VDA8 hg19 CCDS8176.1 0.02 1.278783 GCAxATG COVERED NOVEL NDUFS8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394193.1 0 7.523444 KEEP 0 0 0 25 855 GG 0.999931 0.996655 0 + 16 60 418 0 0 33.216256 53 60 1753 108 ENST00000313468.5 0.231884 0.996724 LRP5 4041 __UNKNOWN__ __UNKNOWN__ 11 68177246 68177246 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:68177246G>A ENST00000294304.7 + 10 2197 NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 NA NA adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 tgaacccagggggcagaggtt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF064548 CCDS8181.1 11q13.4 2014-01-28 2003-03-12 ENSG00000162337 ENSG00000162337 4041 Low density lipoprotein receptors 6697 protein-coding gene gene with protein product 603506 osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy 1 LRP7, OPPG, EVR1 NA 9714764, 10049586 Standard NM_002335 XM_005273994 NA Approved LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4 uc001ont.3 O75197 OTTHUMG00000167570 ENST00000294304.7:c.2092-136G>A chr11.hg19:g.68177246G>A NA Q96TD6|Q9UES7|Q9UP66 hg19 CCDS8181.1 0.02 -0.166652 AGGxGGC COVERED NOVEL LRP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395088.1 2 3.009787 KEEP 0 0 0 10 347 GG 0.992708 0.351366 0 + 3 60 92 0 0 7.110442 15 60 482 30 ENST00000294304.7 0.166667 0.353947 MTL5 9633 __UNKNOWN__ __UNKNOWN__ 11 68505372 68505372 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:68505372G>C ENST00000255087.5 - 6 1101 MTL5_ENST00000540869.1_Intron|MTL5_ENST00000443940.2_3'UTR NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) NA NA cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872) breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) cagagcaagagtccgtctcaa 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U86074 CCDS8184.1, CCDS44661.1 11q13.2-q13.3 2007-01-03 ENSG00000132749 ENSG00000132749 9633 7446 protein-coding gene gene with protein product CXC domain containing 2 604374 NA 1091092 Standard NM_004923 XR_428932 NA Approved CXCDC2 uc001ooc.3 Q9Y4I5 OTTHUMG00000167891 ENST00000255087.5:c.917+795C>G chr11.hg19:g.68505372G>C NA A8K8J3|Q4G182|Q6P2E2|Q8NCC8 hg19 CCDS8184.1 0.02 -0.342089 AGAxTCC COVERED NOVEL MTL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396844.1 8 3.303233 KEEP 1 0 0 11 367 GG 0.992708 0.871307 0 - 4 60 134 0 0 9.856669 32 60 1067 62 ENST00000255087.5 0.111111 0.877708 CPT1A 1374 __UNKNOWN__ __UNKNOWN__ 11 68559268 68559268 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:68559268A>G ENST00000538994.1 - 4 325 CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Intron|CPT1A_ENST00000376618.2_Intron|CPT1A_ENST00000265641.5_Intron P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) NA NA carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641) integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) carnitine O-palmitoyltransferase activity (GO:0004095) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074) gcctcccaaaatgctgggatt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L39211 CCDS8185.1, CCDS31624.1 11q13.2 2007-07-26 ENSG00000110090 1374 2.3.1.21 2328 protein-coding gene gene with protein product 600528 CPT1 NA 7892212, 9070950 Standard NM_001876 NM_001876 NA Approved CPT1-L, L-CPT1 uc001oog.4 P50416 ENST00000538994.1:c.223+1514T>C chr11.hg19:g.68559268A>G NA Q8TCU0|Q9BWK0 hg19 0.02 -0.12278 AAAxTGC COVERED NOVEL CPT1A-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397459.2 0 2.708299 KEEP 1 0 0 9 284 AA 0.99254 0.194847 0 - 3 60 96 0 0 7.873138 11 60 318 37 ENST00000538994.1 0.214286 0.196312 CPT1A 1374 __UNKNOWN__ __UNKNOWN__ 11 68591243 68591243 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:68591243A>G ENST00000265641.5 - 2 142 CPT1A_ENST00000376618.2_Intron NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) NA NA carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641) integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) carnitine O-palmitoyltransferase activity (GO:0004095) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074) ggcaacaagaacaaaactctg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L39211 CCDS8185.1, CCDS31624.1 11q13.2 2007-07-26 ENSG00000110090 1374 2.3.1.21 2328 protein-coding gene gene with protein product 600528 CPT1 NA 7892212, 9070950 Standard NM_001876 NM_001876 NA Approved CPT1-L, L-CPT1 uc001oog.4 P50416 ENST00000265641.5:c.13-8288T>C chr11.hg19:g.68591243A>G NA Q8TCU0|Q9BWK0 hg19 CCDS8185.1 0.02 -0.324532 AGAxCAA COVERED NOVEL CPT1A-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397457.2 5 2.407319 KEEP 0 0 0 8 253 AA 0.99257 0.829507 0 - 4 60 143 0 1 11.032564 27 60 811 71 ENST00000265641.5 0.129032 0.835716 IGHMBP2 3508 __UNKNOWN__ __UNKNOWN__ 11 68672530 68672530 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:68672530T>C ENST00000539224.1 + 2 142 IGHMBP2_ENST00000255078.3_Intron P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 NA NA ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412) axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) tcccaaagtgttgggattaca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L14754 CCDS8187.1 11q13.3 2014-09-17 ENSG00000132740 ENSG00000132740 3508 Zinc fingers, AN1-type domain containing 5542 protein-coding gene gene with protein product cardiac transcription factor 1, zinc finger, AN1-type domain 7 600502 NA 8349627 Standard NM_002180 NM_002180 NA Approved ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6 uc001ook.1 P38935 OTTHUMG00000167894 ENST00000539224.1:c.87-1007T>C chr11.hg19:g.68672530T>C NA A0PJD2|Q00443|Q14177 hg19 0.02 -0.254356 GTGxTGG COVERED NOVEL IGHMBP2-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396864.1 7 3.310143 KEEP 3 0 0 11 351 TT 0.993072 0.663892 0 + 4 60 140 0 0 11.21333 20 60 591 59 ENST00000539224.1 0.166667 0.668523 IGHMBP2 3508 __UNKNOWN__ __UNKNOWN__ 11 68705535 68705535 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:68705535A>G ENST00000255078.3 + 14 2722 NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 NA NA ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412) axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) gcctcccaaaatgctgggatt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L14754 CCDS8187.1 11q13.3 2014-09-17 ENSG00000132740 ENSG00000132740 3508 Zinc fingers, AN1-type domain containing 5542 protein-coding gene gene with protein product cardiac transcription factor 1, zinc finger, AN1-type domain 7 600502 NA 8349627 Standard NM_002180 NM_002180 NA Approved ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6 uc001ook.1 P38935 OTTHUMG00000167894 ENST00000255078.3:c.2612-115A>G chr11.hg19:g.68705535A>G NA A0PJD2|Q00443|Q14177 hg19 CCDS8187.1 0.02 -0.324246 AAAxTGC COVERED NOVEL IGHMBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396862.1 7 3.009313 KEEP 0 0 0 10 324 AA 0.992708 0.829622 0 + 3 60 100 0 0 6.950911 33 60 920 56 ENST00000255078.3 0.083333 0.835716 ORAOV1 220064 __UNKNOWN__ __UNKNOWN__ 11 69487777 69487777 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:69487777T>C ENST00000535657.1 - 2 238 ORAOV1_ENST00000279147.4_Intron|ORAOV1_ENST00000539414.1_Intron|ORAOV1_ENST00000536870.1_Intron|ORAOV1_ENST00000542341.1_Intron Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 NA NA NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) accatgttggtcaggctggtc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8192.1 11q13.2 2010-11-23 ENSG00000149716 ENSG00000149716 220064 17589 protein-coding gene gene with protein product oral cancer overexpressed protein 1-A 607224 NA 12172009 Standard NM_153451 NM_153451 NA Approved TAOS1 uc001opc.3 Q8WV07 ENST00000535657.1:c.156+206A>G chr11.hg19:g.69487777T>C NA B2R4R2|Q8NFK0 hg19 CCDS8192.1 0.02 1.454299 TGGxCAG COVERED NOVEL ORAOV1-009 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000396821.1 3 12.627839 KEEP 0 0 0 42 1192 TT 1 0.999559 0 - 5 60 135 0 0 8.000092 78 60 2065 143 ENST00000535657.1 0.060241 0.999559 PPFIA1 8500 __UNKNOWN__ __UNKNOWN__ 11 70229171 70229171 __UNKNOWN__ 3'UTR SNP G G A rs552282 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:70229171G>A ENST00000253925.7 + 0 3899 AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000524619.1_RNA|AP000487.5_ENST00000530690.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 NA NA cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786) signal transducer activity (GO:0004871) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) ACTACATTTTGGAATCCAGTG 0.303 NA A||| 2070 0.413339 0.7224 0.4741 5008 , , NA 15850 0.1042 NA 0.3479 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U22816 CCDS31627.1, CCDS31628.1 11q13.3 2013-01-10 ENSG00000131626 ENSG00000131626 8500 Sterile alpha motif (SAM) domain containing 9245 protein-coding gene gene with protein product Liprin-alpha1 611054 NA 7796809, 9624153 Standard NM_003626 NM_003626 NA Approved LIP.1, LIPRIN uc001opo.3 Q13136 OTTHUMG00000167266 ENST00000253925.7:c.*75G>A chr11.hg19:g.70229171G>A NA A6NLE3|Q13135|Q14567|Q8N4I2 hg19 CCDS31627.1 0.02 1.157854 TTTxGAA COVERED 800 0.3663003663003663 330 0.6707317073170732 158 0.43646408839779005 58 0.10139860139860139 254 0.33509234828496043 A 12.35 1.910871 0.33721 . . ENSG00000131626 ENST00000528853 . . . 5.01 -0.731 0.11151 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.38023 -0.9680 3 . . . . 0.2971 0.00267 0.254:0.2331:0.2613:0.2516 rs552282;rs56631971;rs57432535;rs552282 . . . R 61 . . G + 1 0 PPFIA1 69906819 0.000000 0.05858 0.000000 0.03702 0.268000 0.26511 -0.456000 0.06754 -0.351000 0.08249 -0.254000 0.11334 GGA NOVEL PPFIA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000393905.1 3 22.608379 KEEP 0 1 31 86 3044 GG 1 0.999919 0 + 6 60 183 0 0 11.510858 87 60 2892 258 ENST00000253925.7 0.064516 0.999919 SHANK2 22941 __UNKNOWN__ __UNKNOWN__ 11 70796266 70796266 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:70796266T>C ENST00000338508.4 - 7 912 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 NA NA adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) cgggttcaagtgattctcctg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF141901 11q13.2 2013-01-10 ENSG00000162105 ENSG00000162105 22941 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 14295 protein-coding gene gene with protein product 603290 cortactin binding protein 1 CORTBP1 NA 10506216 Standard NM_012309 XM_005277930 NA Approved CTTNBP1, ProSAP1, SHANK, SPANK-3 uc001oqc.3 Q9UPX8 OTTHUMG00000154615 ENST00000338508.4:c.913-58A>G chr11.hg19:g.70796266T>C NA C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1 hg19 0.02 1.906592 AAGxGAT COVERED NOVEL SHANK2-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 4.814726 KEEP 0 0 0 16 505 TT 0.997832 0.979826 0 - 6 60 175 0 0 12.824612 37 60 1054 79 ENST00000338508.4 0.139535 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 71478872 71478872 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:71478872T>G NA NA ENPP7P8 (45599 upstream) : FAM86C1 (19683 downstream) NA NA NA tcttagtacataacaaaatgg 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.71478872T>G NA hg19 0.02 -0.184143 ACAxAAC COVERED NOVEL 0 1 3.308402 KEEP 7 0 0 11 316 TT 0.993072 0.420544 0 5 60 156 0 0 13.102742 15 60 408 53 0.25 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 71478938 71478938 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:71478938G>T NA NA ENPP7P8 (45665 upstream) : FAM86C1 (19617 downstream) NA NA NA gatctctcttgcttttcccca 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.71478938G>T NA hg19 0.02 -0.342126 CTTxCTT COVERED NOVEL 0 4 5.417921 KEEP 6 0 0 18 659 GG 0.999859 0.865624 0 4 60 115 0 0 7.812605 35 60 1207 99 0.102564 0.865745 RP11-849H4.2 0 __UNKNOWN__ __UNKNOWN__ 11 71628252 71628252 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:71628252A>G ENST00000529513.1 - 0 639 RP11-849H4.2_ENST00000528511.2_Intron|RP11-849H4.2_ENST00000529844.1_3'UTR NA NA NA tagagatgggatttcaccatg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000529513.1:c.*40T>C chr11.hg19:g.71628252A>G NA hg19 0.02 -0.210507 GGGxTTT COVERED NOVEL RP11-849H4.2-006 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000394954.1 6 4.491535 KEEP 0 0 0 15 441 AA 0.99649 0.520328 0 - 3 60 92 0 0 7.03411 16 60 497 43 ENST00000529513.1 0.157895 0.522161 LRTOMT 220074 __UNKNOWN__ __UNKNOWN__ 11 71806742 71806742 __UNKNOWN__ Missense_Mutation SNP G G A rs533720308 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:71806742G>A ENST00000440313.2 + 2 110 c.37G>A c.(37-39)Gga>Aga p.G13R LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000447974.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000423494.2_3'UTR|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000289488.2_3'UTR|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000324866.7_3'UTR|LRTOMT_ENST00000435085.1_Intron|LRTOMT_ENST00000541614.1_Intron Q96E66 LRC51_HUMAN leucine rich transmembrane and O-methyltransferase domain containing 147 NA cytoplasm (GO:0005737) large_intestine(2)|lung(1)|ovary(1) 4 tttttgagacggagtctcact 0.483 NA G||| 1 0.000199681 0 0 5008 , , NA 15475 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1 11q13.4 2014-09-05 2013-08-19 2008-11-27 ENSG00000184154 ENSG00000184154 220074 25033 protein-coding gene gene with protein product 612414 leucine rich repeat containing 51, deafness, autosomal recessive 63 LRRC51, DFNB63 NA 18794526, 18953341 Standard NM_145309 NM_145309 NA Approved COMT2, CFAP111 uc010rqw.2 Q8WZ04 OTTHUMG00000154887 ENST00000440313.2:c.37G>A chr11.hg19:g.71806742G>A ENSP00000390485:p.Gly13Arg NA B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4 hg19 0.02 1.015011 GACxGAG COVERED . . . . . . . . . . G 0.014 -1.578532 0.00879 . . ENSG00000184154 ENST00000440313 T 0.42513 0.97 0.401 -0.802 0.10889 . . . . . T 0.18299 0.0439 . . . 0.19575 N 0.999969 . . . . . . T 0.24905 -1.0147 5 0.11794 T 0.64 . . . . . . . . R 13 ENSP00000390485:G13R ENSP00000390485:G13R G + 1 0 LRTOMT 71484390 0.013000 0.17824 0.252000 0.24328 0.224000 0.24922 -0.771000 0.04699 -0.579000 0.05952 -0.602000 0.04101 GGA NOVEL LRTOMT-020 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396607.2 9 9.463039 KEEP 2 1 33 43 1404 GG 1 0.999962 0 + 5 60 150 2 0 9.060173 83 70 2676 196 ENST00000440313.2 0.056818 0.999962 LRTOMT 220074 __UNKNOWN__ __UNKNOWN__ 11 71807013 71807013 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:71807013T>C ENST00000423494.2 + 0 1102 LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000447974.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000289488.2_3'UTR|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000324866.7_3'UTR|LRTOMT_ENST00000435085.1_Intron|LRTOMT_ENST00000541614.1_Intron NM_001205138.3 NP_001192067.1 Q96E66 LRC51_HUMAN leucine rich transmembrane and O-methyltransferase domain containing NA NA cytoplasm (GO:0005737) large_intestine(2)|lung(1)|ovary(1) 4 ctcagcctcctgagtagctgg 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1 11q13.4 2014-09-05 2013-08-19 2008-11-27 ENSG00000184154 ENSG00000184154 220074 25033 protein-coding gene gene with protein product 612414 leucine rich repeat containing 51, deafness, autosomal recessive 63 LRRC51, DFNB63 NA 18794526, 18953341 Standard NM_145309 NM_145309 NA Approved COMT2, CFAP111 uc010rqw.2 Q8WZ04 OTTHUMG00000154887 ENST00000423494.2:c.*447T>C chr11.hg19:g.71807013T>C NA B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4 hg19 CCDS55778.1 0.02 -0.420451 TCCxGAG COVERED NOVEL LRTOMT-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000396246.1 0 2.306212 KEEP 1 1 29 18 505 TT 0.99986 0.948269 0 + 7 60 180 0 0 13.155434 35 60 1012 75 ENST00000423494.2 0.166667 0.948402 LAMTOR1 55004 __UNKNOWN__ __UNKNOWN__ 11 71807481 71807481 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:71807481G>A ENST00000545249.1 - 4 415 LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000447974.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000289488.2_3'UTR|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000324866.7_3'UTR|LRTOMT_ENST00000435085.1_Intron|LRTOMT_ENST00000541614.1_Intron Q6IAA8 LTOR1_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 NA NA cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986) cervix(1) 1 atggggtttcgccatgttggc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000632 CCDS8209.1 11q13.4 2011-05-18 2011-02-15 2011-02-15 ENSG00000149357 ENSG00000149357 55004 26068 protein-coding gene gene with protein product p27kip1 releasing factor from RhoA, protein associated with DRMs and endosomes 613510 chromosome 11 open reading frame 59 C11orf59 NA 12358155 Standard NM_017907 NM_017907 NA Approved FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1 uc001ort.3 Q6IAA8 OTTHUMG00000167869 ENST00000545249.1:c.393+1853C>T chr11.hg19:g.71807481G>A NA Q8WZ09|Q9NWT0 hg19 0.02 1.330851 TTCxCCA COVERED NOVEL LAMTOR1-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396730.1 8 6.018367 KEEP 3 0 0 20 640 GG 0.999863 0.992789 0 - 5 60 139 0 0 8.823307 55 60 1696 98 ENST00000545249.1 0.083333 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 71991475 71991475 __UNKNOWN__ IGR SNP T T C rs377199535 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:71991475T>C NA NA PHOX2A (34767 upstream) : CLPB (11993 downstream) NA NA NA ttgtttgagatggagttttgc 0.517 NA T||| 1 0.000199681 0 0 5008 , , NA 17895 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.71991475T>C NA hg19 0.02 -0.359577 AGAxGGA COVERED NOVEL 0 10 5.416119 KEEP 0 0 0 18 568 TT 0.999859 0.88875 0 3 60 94 0 0 6.645322 26 60 763 73 0.103448 0.888875 CLPB 81570 __UNKNOWN__ __UNKNOWN__ 11 72071716 72071716 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:72071716G>A ENST00000538039.1 - 5 769 CLPB_ENST00000445069.2_Intron|CLPB_ENST00000543042.1_Intron|CLPB_ENST00000437826.2_Intron|CLPB_ENST00000340729.5_Intron|CLPB_ENST00000294053.3_Intron|RP11-45F15.2_ENST00000537727.1_RNA NM_001258392.1 NP_001245321.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) NA NA cellular response to heat (GO:0034605) mitochondrion (GO:0005739) ATP binding (GO:0005524) endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 cccgacctcaggtgatccacc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC006404 CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1 11q13.4 2013-01-10 ENSG00000162129 ENSG00000162129 81570 Ankyrin repeat domain containing 30664 protein-coding gene gene with protein product suppressor of potassium transport defect 3 NA 11230166, 7835694 Standard NM_030813 NM_030813 NA Approved HSP78, SKD3, FLJ13152 uc010rqy.3 Q9H078 OTTHUMG00000167902 ENST00000538039.1:c.647-1664C>T chr11.hg19:g.72071716G>A NA B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0 hg19 CCDS58154.1 0.02 -0.192992 TCAxGTG UNCOVERED NOVEL CLPB-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396890.2 13 2.708797 KEEP 12 0 0 9 315 GG 0 0 0 - 3 60 88 0 0 6.633706 16 60 548 58 ENST00000538039.1 0.157895 0.457757 ARAP1 116985 __UNKNOWN__ __UNKNOWN__ 11 72396990 72396990 __UNKNOWN__ Intron SNP G G A rs12805218|rs376734720|rs557182192 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:72396990G>A ENST00000393609.3 - 34 4538 ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000393605.3_Intron|ARAP1-AS1_ENST00000542022.1_RNA NM_001040118.2 NP_001035207.1 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 NA NA actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270) cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GAGGGCAATCGGGGAGGGCAA 0.637 NA g||| 2071 0.413538 0.4115 0.3934 5008 , , NA 15377 0.3155 NA 0.5567 False NA ,,, NA NA NA 2504 0.3845 NA NA NA Ovarian(102;1198 1520 13195 17913 37529) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF411983 CCDS8217.2, CCDS41687.1, CCDS44671.1 11q13.3 2013-01-11 2008-09-22 2008-09-22 ENSG00000186635 ENSG00000186635 116985 ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16925 protein-coding gene gene with protein product 606646 centaurin, delta 2 CENTD2 NA Standard NM_001040118 NM_001040118 NA Approved uc001osu.3 Q96P48 OTTHUMG00000157102 ENST00000393609.3:c.4335+96C>T chr11.hg19:g.72396990G>A NA A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71 hg19 CCDS41687.1 0.02 4.084773 ATCxGGG COVERED 935 0.4281135531135531 209 0.4247967479674797 164 0.4530386740331492 159 0.27797202797202797 403 0.5316622691292876 g 7.615 0.675617 0.14841 . . ENSG00000186635 ENST00000536885 T 0.54071 0.59 3.12 -4.95 0.03048 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.40869 -0.9540 5 0.87932 D 0 . 4.2351 0.10621 0.2601:0.0:0.423:0.317 rs12805218;rs57711350 . . . L 130 ENSP00000442746:P130L ENSP00000442746:P130L P - 2 0 ARAP1 72074638 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.512000 0.06313 -0.952000 0.03649 -1.686000 0.00732 CCG NOVEL ARAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000347428.1 3 18.954763 KEEP 0 0 0 63 2078 GG 1 1 0 - 7 60 202 0 0 11.105453 152 60 4914 298 ENST00000393609.3 0.044025 1 ARAP1 116985 __UNKNOWN__ __UNKNOWN__ 11 72401705 72401705 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:72401705A>G ENST00000393609.3 - 30 4190 ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000393605.3_Intron|ARAP1-AS1_ENST00000542022.1_RNA NM_001040118.2 NP_001035207.1 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 NA NA actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270) cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 gattacaggcatgagccactg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(102;1198 1520 13195 17913 37529) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF411983 CCDS8217.2, CCDS41687.1, CCDS44671.1 11q13.3 2013-01-11 2008-09-22 2008-09-22 ENSG00000186635 ENSG00000186635 116985 ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16925 protein-coding gene gene with protein product 606646 centaurin, delta 2 CENTD2 NA Standard NM_001040118 NM_001040118 NA Approved uc001osu.3 Q96P48 OTTHUMG00000157102 ENST00000393609.3:c.3987+2092T>C chr11.hg19:g.72401705A>G NA A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71 hg19 CCDS41687.1 0.02 -0.254322 GGCxTGA COVERED NOVEL ARAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000347428.1 6 2.70564 KEEP 1 0 0 9 255 AA 0.99254 0.663536 0 - 4 60 130 0 0 10.062564 22 60 626 51 ENST00000393609.3 0.153846 0.668523 FCHSD2 9873 __UNKNOWN__ __UNKNOWN__ 11 72794558 72794558 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:72794558T>C ENST00000458644.2 - 3 201 FCHSD2_ENST00000409418.4_Intron|FCHSD2_ENST00000409853.1_Intron|FCHSD2_ENST00000409314.1_Intron|FCHSD2_ENST00000311172.7_Intron O94868 FCSD2_HUMAN FCH and double SH3 domains 2 NA NA endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) tgcgccactgtactccagcct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018312 CCDS8218.2 11q13.3 2008-02-05 2004-04-14 2004-04-16 ENSG00000137478 ENSG00000137478 9873 29114 protein-coding gene gene with protein product SH3 multiple domains 3 SH3MD3 NA 9872452, 15067381 Standard NM_014824 NM_014824 NA Approved KIAA0769 uc009ytl.3 O94868 OTTHUMG00000153082 ENST00000458644.2:c.169+181A>G chr11.hg19:g.72794558T>C NA B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77 hg19 0.02 -0.333196 CTGxACT COVERED NOVEL FCHSD2-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397326.1 1 4.51293 KEEP 0 0 0 15 443 TT 0.99649 0.862707 0 - 4 60 120 0 0 8.619636 29 60 796 62 ENST00000458644.2 0.121212 0.865745 RAB6A 5870 __UNKNOWN__ __UNKNOWN__ 11 73466613 73466613 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:73466613T>C ENST00000310653.6 - 1 572 RAB6A_ENST00000536566.1_Intron|RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000336083.3_Intron NM_001077637.1|NM_002869.4 NP_001071105.1|NP_002860.2 P20340 RAB6A_HUMAN RAB6A, member RAS oncogene family NA NA antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904) large_intestine(2)|lung(2) 4 gctgggattataggcgtgagc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF130986 CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1 11q13.3 2008-08-08 ENSG00000175582 ENSG00000175582 5870 RAB, member RAS oncogene 9786 protein-coding gene gene with protein product 179513 RAB6 NA Standard NM_001243718 NA Approved uc001ouf.3 P20340 OTTHUMG00000134308 ENST00000310653.6:c.70+4997A>G chr11.hg19:g.73466613T>C NA A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4 hg19 CCDS8223.1 0.02 -0.280192 TTAxAGG COVERED NOVEL RAB6A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000259240.3 7 3.008406 KEEP 1 0 0 10 304 TT 0.992708 0.734278 0 - 3 60 103 1 0 7.694887 23 60 647 68 ENST00000310653.6 0.115385 0.739671 MRPL48 51642 __UNKNOWN__ __UNKNOWN__ 11 73498566 73498566 __UNKNOWN__ 5'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:73498566C>G ENST00000310614.7 + 0 206 NM_016055.5 NP_057139.1 Q96GC5 RM48_HUMAN mitochondrial ribosomal protein L48 NA NA mitochondrial ribosome (GO:0005761) kidney(1) 1 ctccagcctgcgcaacagagc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF151876 CCDS44676.1 11q13.4 2012-09-13 ENSG00000175581 ENSG00000175581 51642 Mitochondrial ribosomal proteins / large subunits 16653 protein-coding gene gene with protein product 611853 NA 10810093 Standard NM_016055 NM_016055 NA Approved CGI-118 uc001ouh.4 Q96GC5 OTTHUMG00000168048 ENST00000310614.7:c.-451C>G chr11.hg19:g.73498566C>G NA B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0 hg19 CCDS44676.1 0.02 -0.333358 CTGxGCA COVERED NOVEL MRPL48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397733.1 6 5.417321 KEEP 0 0 0 18 627 CC 0.999859 0.865624 0 + 3 60 102 1 0 7.308897 29 60 979 72 ENST00000310614.7 0.09375 0.865745 PPME1 51400 __UNKNOWN__ __UNKNOWN__ 11 73894136 73894136 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:73894136A>G ENST00000398427.4 + 1 201 PPME1_ENST00000542710.1_Intron|PPME1_ENST00000328257.8_Intron NM_001271593.1|NM_016147.1 NP_001258522.1|NP_057231.1 Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 NA NA negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790) protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601) endometrium(1)|large_intestine(2)|lung(2) 5 Breast(11;3.29e-05) gagcccaggaatttgagacca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS44678.1, CCDS60891.1 11q13.4 2014-03-14 ENSG00000214517 ENSG00000214517 51400 3.1.1.89 30178 protein-coding gene gene with protein product 611117 NA 10318862 Standard NM_016147 NM_016147 NA Approved PME-1 uc009yty.4 Q9Y570 OTTHUMG00000168115 ENST00000398427.4:c.101+11569A>G chr11.hg19:g.73894136A>G NA B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18 hg19 0.02 -0.175415 GGAxTTT COVERED NOVEL PPME1-002 NOVEL non_canonical_U12|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000398255.1 5 3.009249 KEEP 0 0 0 10 318 AA 0.992708 0.384582 0 + 3 60 105 0 0 8.333181 16 60 473 36 ENST00000398427.4 0.157895 0.387407 PGM2L1 283209 __UNKNOWN__ __UNKNOWN__ 11 74046084 74046084 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:74046084T>G ENST00000298198.4 - 0 3793 NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 NA NA glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310) cytosol (GO:0005829) glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) aaagcgctggtattacagatg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB019210 CCDS8231.1 11q13.3 2008-12-01 ENSG00000165434 ENSG00000165434 283209 20898 protein-coding gene gene with protein product glucose-1,6-bisphosphate synthase 611610 NA 17804405 Standard NM_173582 NM_173582 NA Approved FLJ32029, BM32A uc001ovb.1 Q6PCE3 OTTHUMG00000168132 ENST00000298198.4:c.*1613A>C chr11.hg19:g.74046084T>G NA Q96MQ7|Q9UIK3 hg19 CCDS8231.1 0.02 7.418141 TGGxATT COVERED NOVEL PGM2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398324.1 71 3.167584 KEEP 2 7 218 87 2634 TT 1 1 0 - 8 60 248 1 0 14.239798 182 60 5067 457 ENST00000298198.4 0.042105 1 PGM2L1 283209 __UNKNOWN__ __UNKNOWN__ 11 74046198 74046198 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:74046198C>G ENST00000298198.4 - 0 3679 NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 NA NA glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310) cytosol (GO:0005829) glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) atggagtctccctctgttgcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB019210 CCDS8231.1 11q13.3 2008-12-01 ENSG00000165434 ENSG00000165434 283209 20898 protein-coding gene gene with protein product glucose-1,6-bisphosphate synthase 611610 NA 17804405 Standard NM_173582 NM_173582 NA Approved FLJ32029, BM32A uc001ovb.1 Q6PCE3 OTTHUMG00000168132 ENST00000298198.4:c.*1499G>C chr11.hg19:g.74046198C>G NA Q96MQ7|Q9UIK3 hg19 CCDS8231.1 0.02 3.755055 CTCxCTC COVERED NOVEL PGM2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398324.1 28 17.95841 KEEP 2 1 35 72 2435 CC 1 1 0 - 5 60 166 0 2 10.062871 110 60 3656 317 ENST00000298198.4 0.043478 1 NEU3 10825 __UNKNOWN__ __UNKNOWN__ 11 74699245 74699245 __UNKNOWN__ 5'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:74699245C>T ENST00000294064.4 + 0 67 NM_006656.5 NP_006647.3 Q9UQ49 NEUR3_HUMAN sialidase 3 (membrane sialidase) NA NA carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308) kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 gacagggtctcgctctgtcac 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB008185 CCDS44682.1 11q13.5 2008-02-05 ENSG00000162139 10825 7760 protein-coding gene gene with protein product 604617 NA 10405317 Standard NM_006656 NM_006656 NA Approved uc001ovw.3 Q9UQ49 ENST00000294064.4:c.-861C>T chr11.hg19:g.74699245C>T NA A8K327|Q9NQE1 hg19 CCDS44682.1 0.02 1.245934 TCTxGCT COVERED NOVEL NEU3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000384595.1 4 25.272501 KEEP 0 0 0 84 2628 CC 1 0.999622 0 + 5 60 154 0 0 9.937943 66 60 2090 185 ENST00000294064.4 0.070423 0.999622 ARRB1 408 __UNKNOWN__ __UNKNOWN__ 11 74992031 74992031 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:74992031G>C ENST00000420843.2 - 7 580 ARRB1_ENST00000360025.3_Intron|ARRB1_ENST00000393505.4_Intron NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 NA NA activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366) basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143) angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 ACACTTCCAGGTATTGTTACT 0.597 NA OREG0021232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC003636 CCDS31640.1, CCDS44684.1 11q13 2008-12-11 ENSG00000137486 ENSG00000137486 408 711 protein-coding gene gene with protein product arrestin 2 107940 ARR1 NA 8486659 Standard NM_004041 NM_004041 NA Approved uc001owe.2 P49407 OTTHUMG00000165444 ENST00000420843.2:c.482+87C>G chr11.hg19:g.74992031G>C 1157 B6V9G8|O75625|O75630|Q2PP20|Q9BTK8 hg19 CCDS44684.1 0.02 4.085014 CAGxTAT COVERED NOVEL ARRB1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000384092.3 1 35.812976 KEEP 0 0 0 119 4021 GG 1 0.999995 0 - 34 60 1155 0 0 101.865069 78 60 2573 301 ENST00000420843.2 0.303571 0.999995 RPS3 6188 __UNKNOWN__ __UNKNOWN__ 11 75116196 75116196 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:75116196G>C ENST00000278572.6 + 6 801 RPS3_ENST00000531188.1_Intron|RPS3_ENST00000527446.1_Intron|RPS3_ENST00000534440.1_Intron P23396 RS3_HUMAN ribosomal protein S3 NA NA cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587) damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735) endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 ttttggctcagtgcaacctct 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8236.1, CCDS58161.1 11q13.3-q13.5 2011-04-05 ENSG00000149273 6188 S ribosomal proteins 10420 protein-coding gene gene with protein product IMR-90 ribosomal protein S3, 40S ribosomal protein S3 600454 NA 1712897, 7789996 Standard NM_001005 NM_001005 NA Approved FLJ26283, FLJ27450, MGC87870, S3 uc031qcs.1 P23396 ENST00000278572.6:c.777+284G>C chr11.hg19:g.75116196G>C NA B2R7N5|J3KN86|Q498B5|Q8NI95 hg19 CCDS58161.1 0.02 -0.428849 TCAxTGC COVERED NOVEL RPS3-014 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000384310.1 7 5.351743 KEEP 0 1 29 28 996 GG 0.999997 0.959856 0 + 5 60 175 0 0 13.127809 39 60 1300 106 ENST00000278572.6 0.113636 0.959859 MYO7A 4647 __UNKNOWN__ __UNKNOWN__ 11 76900625 76900625 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:76900625C>A ENST00000458637.2 + 28 3896 MYO7A_ENST00000409619.2_Intron|MYO7A_ENST00000409709.3_Intron NM_001127180.1 NP_001120652.1 Q13402 MYO7A_HUMAN myosin VIIA NA NA actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202) actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CAAGGCCCACCCGGCCACTCC 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U39226 CCDS53683.1, CCDS53684.1, CCDS53685.1 11q13.5 2013-01-08 2005-09-12 ENSG00000137474 ENSG00000137474 4647 A-kinase anchor proteins, Myosins / Myosin superfamily : Class VII 7606 protein-coding gene gene with protein product 276903 myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) USH1B, DFNB2, DFNA11 NA 8884266 Standard NM_000260 NM_000260 NA Approved NSRD2 uc001oyb.2 Q13402 OTTHUMG00000152822 ENST00000458637.2:c.3630+110C>A chr11.hg19:g.76900625C>A NA B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822 hg19 CCDS53684.1 0.02 1.403541 CACxCGG COVERED NOVEL MYO7A-002 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328134.2 1 9.027693 KEEP 0 0 0 30 985 CC 0.999997 0.995081 0 + 25 60 685 0 0 61.199606 42 60 1357 104 ENST00000458637.2 0.373134 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 77028713 77028713 __UNKNOWN__ IGR SNP G G A rs141335039 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77028713G>A NA NA GDPD4 (16019 upstream) : PAK1 (4038 downstream) NA NA NA cagcctgggcgacacagcgag 0.488 NA G||| 38 0.00758786 8e-04 0.0101 5008 , , NA 15764 0 NA 0.0239 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.77028713G>A NA hg19 0.02 -0.394716 GGCxACA COVERED NOVEL 0 5 6.320002 KEEP 0 0 0 21 705 GG 0.999869 0.926519 0 3 60 95 1 1 6.41241 34 60 1070 80 0.081081 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 77028717 77028717 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77028717C>G NA NA GDPD4 (16023 upstream) : PAK1 (4034 downstream) NA NA NA ctgggcgacacagcgagactc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.77028717C>G NA hg19 0.02 -0.412309 ACAxAGC COVERED NOVEL 0 5 2.64535 KEEP 0 1 38 22 789 CC 0.999892 0.94164 0 3 60 104 1 1 7.239654 36 60 1221 85 0.076923 0.941741 PAK1 5058 __UNKNOWN__ __UNKNOWN__ 11 77124728 77124728 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77124728C>A ENST00000356341.3 - 2 511 PAK1_ENST00000278568.4_Intron NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 NA NA actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060) axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018) ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) aactccatctcaaaaaaagaa 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U51120 CCDS8250.1, CCDS44687.1 11q13-q14 2008-06-17 2008-06-17 5058 8590 protein-coding gene gene with protein product STE20 homolog, yeast 602590 p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related), p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast) NA 8805275, 9533029 Standard NM_002576 NM_002576 NA Approved uc001oyg.4 Q13153 ENST00000356341.3:c.21-21142G>T chr11.hg19:g.77124728C>A NA O75561|Q13567|Q32M53|Q32M54|Q86W79 hg19 CCDS8250.1 0.02 -0.228061 TCTxAAA COVERED NOVEL PAK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382083.2 8 4.213801 KEEP 0 0 0 14 498 CC 0.995343 0.580216 0 - 4 60 108 1 0 8.015146 20 60 676 60 ENST00000356341.3 0.166667 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 77234745 77234745 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77234745A>G NA NA DKFZP434E1119 (46671 upstream) : RNU7-59P (43233 downstream) NA NA NA ttacaggcataagccaccaca 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.77234745A>G NA hg19 0.02 -0.227993 CATxAGC COVERED NOVEL 0 5 2.406854 KEEP 0 0 0 8 237 AA 0.99257 0.578599 0 3 60 95 0 0 7.006687 21 60 581 52 0.125 0.58293 AAMDC 28971 __UNKNOWN__ __UNKNOWN__ 11 77595831 77595831 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77595831T>C ENST00000532481.1 + 3 318 AAMDC_ENST00000304716.8_Intron|INTS4_ENST00000535943.1_Intron|INTS4_ENST00000534064.1_Intron|AAMDC_ENST00000527134.1_Intron Q9H7C9 AAMDC_HUMAN adipogenesis associated, Mth938 domain containing NA NA negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737) NA aacagggtcttactctgccac 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016854 CCDS8254.1 11q14.1 2012-10-08 2012-10-08 2012-10-08 ENSG00000087884 ENSG00000087884 28971 30205 protein-coding gene gene with protein product chromosome 11 open reading frame 67 C11orf67 NA 12477932 Standard NM_024684 NM_024684 NA Approved PTD015, FLJ21035, CK067 uc001oyq.3 Q9H7C9 OTTHUMG00000166651 ENST00000532481.1:c.228+14968T>C chr11.hg19:g.77595831T>C NA Q96AQ4|Q9Y6B1 hg19 0.02 1.640197 TCTxACT COVERED NOVEL AAMDC-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390974.1 10 15.681358 KEEP 1 1 10 56 1600 TT 1 0.9982 0 + 4 60 132 1 0 8.53387 63 60 1736 160 ENST00000532481.1 0.059701 0.9982 AAMDC 28971 __UNKNOWN__ __UNKNOWN__ 11 77595838 77595838 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77595838C>T ENST00000532481.1 + 3 318 AAMDC_ENST00000304716.8_Intron|INTS4_ENST00000535943.1_Intron|INTS4_ENST00000534064.1_Intron|AAMDC_ENST00000527134.1_Intron Q9H7C9 AAMDC_HUMAN adipogenesis associated, Mth938 domain containing NA NA negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737) NA tcttactctgccacccaggct 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016854 CCDS8254.1 11q14.1 2012-10-08 2012-10-08 2012-10-08 ENSG00000087884 ENSG00000087884 28971 30205 protein-coding gene gene with protein product chromosome 11 open reading frame 67 C11orf67 NA 12477932 Standard NM_024684 NM_024684 NA Approved PTD015, FLJ21035, CK067 uc001oyq.3 Q9H7C9 OTTHUMG00000166651 ENST00000532481.1:c.228+14975C>T chr11.hg19:g.77595838C>T NA Q96AQ4|Q9Y6B1 hg19 0.02 1.394611 CTGxCAC COVERED NOVEL AAMDC-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390974.1 8 10.534183 KEEP 0 1 34 47 1586 CC 1 0.996233 0 + 7 60 197 1 0 13.77195 51 60 1737 142 ENST00000532481.1 0.12069 0.996233 INTS4 92105 __UNKNOWN__ __UNKNOWN__ 11 77698209 77698209 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77698209G>A ENST00000534064.1 - 2 281 INTS4_ENST00000527522.1_3'UTR|INTS4_ENST00000529807.1_Intron NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 NA NA snRNA processing (GO:0016180) integrator complex (GO:0032039) INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) gataatttttgaagccaggta 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015664 CCDS31644.1 11q14.1 2006-04-26 ENSG00000149262 ENSG00000149262 92105 25048 protein-coding gene gene with protein product 611348 NA 16239144 Standard NM_033547 NM_033547 NA Approved INT4, MGC16733, MST093 uc001oys.3 Q96HW7 OTTHUMG00000166629 ENST00000534064.1:c.246+3944C>T chr11.hg19:g.77698209G>A NA Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0 hg19 CCDS31644.1 0.02 -0.403404 TTTxAAG COVERED NOVEL INTS4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390927.1 4 8.728375 KEEP 0 0 0 29 1038 GG 0.999997 0.934489 0 - 21 60 561 0 0 52.60472 24 60 797 99 ENST00000534064.1 0.466667 0.934492 NDUFC2 4718 __UNKNOWN__ __UNKNOWN__ 11 77779561 77779561 __UNKNOWN__ 3'UTR SNP G G A rs547202833 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77779561G>A ENST00000281031.4 - 0 2306 NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2_ENST00000527806.1_3'UTR NM_001204055.1|NM_004549.5 NP_001190984.1|NP_004540.1 O95298 NDUC2_HUMAN NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) Carvedilol(DB01136) gaccaggcgcggtggctcacg 0.443 NA G||| 1 0.000199681 0 0 5008 , , NA 14960 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF087659 CCDS8257.1, CCDS55779.1, CCDS55781.1 11q14.1 2011-07-04 2002-08-29 ENSG00000151366 ENSG00000151366 4718 Mitochondrial respiratory chain complex / Complex I 7706 protein-coding gene gene with protein product human lung cancer oncogene 1, complex I subunit B14.5b 603845 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b) NA 9878551 Standard NM_004549 NM_001204055 NA Approved B14.5b, HLC-1 O95298 ENST00000281031.4:c.*1472C>T chr11.hg19:g.77779561G>A NA E9PNU8|E9PRB2|Q549M5|Q6FIH8|Q9UBJ9 hg19 CCDS8257.1 0.02 1.085173 CGCxGTG COVERED NOVEL NDUFC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390821.1 16 10.167685 KEEP 0 1 32 45 1546 GG 1 0.999895 0 - 6 60 172 1 0 10.754018 76 60 2499 187 ENST00000281031.4 0.073171 0.999895 NDUFC2 4718 __UNKNOWN__ __UNKNOWN__ 11 77780194 77780194 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77780194T>C ENST00000281031.4 - 0 1673 NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2_ENST00000527806.1_3'UTR NM_001204055.1|NM_004549.5 NP_001190984.1|NP_004540.1 O95298 NDUC2_HUMAN NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) Carvedilol(DB01136) cctcagcctctcaaagtgctg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF087659 CCDS8257.1, CCDS55779.1, CCDS55781.1 11q14.1 2011-07-04 2002-08-29 ENSG00000151366 ENSG00000151366 4718 Mitochondrial respiratory chain complex / Complex I 7706 protein-coding gene gene with protein product human lung cancer oncogene 1, complex I subunit B14.5b 603845 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b) NA 9878551 Standard NM_004549 NM_001204055 NA Approved B14.5b, HLC-1 O95298 ENST00000281031.4:c.*839A>G chr11.hg19:g.77780194T>C NA E9PNU8|E9PRB2|Q549M5|Q6FIH8|Q9UBJ9 hg19 CCDS8257.1 0.02 5.528634 CTCxCAA COVERED NOVEL NDUFC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390821.1 28 7.693105 KEEP 1 2 70 50 1592 TT 1 1 0 - 11 60 375 0 0 25.484354 145 60 4410 318 ENST00000281031.4 0.070513 1 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 77992033 77992033 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:77992033C>T ENST00000361507.4 - 2 161 GAB2_ENST00000340149.2_Intron|GAB2_ENST00000526030.1_Intron NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 NA NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) caggtcttgccctgttgccca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.76-86G>A chr11.hg19:g.77992033C>T NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 1.368339 TGCxCTG COVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 4 3.648302 KEEP 0 2 68 36 1222 CC 1 0.997553 0 - 6 60 189 1 0 13.16287 57 60 1862 139 ENST00000361507.4 0.095238 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 78358691 78358691 __UNKNOWN__ IGR SNP C C T rs3740826 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:78358691C>T NA NA RNU6-311P (68290 upstream) : TENM4 (5184 downstream) NA NA NA gggccctaagcgcaggaccct 0.502 NA T||| 2152 0.429712 0.357 0.4582 5008 , , NA 22061 0.2183 NA 0.7187 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.78358691C>T NA hg19 0.02 -0.078932 AAGxGCA UNCOVERED NOVEL 0 0 2.407759 KEEP 0 0 0 8 282 CC 0.99257 0.076761 0 4 60 116 0 0 10.822645 5 60 155 24 0.444444 0.077336 DLG2 1740 __UNKNOWN__ __UNKNOWN__ 11 83378793 83378793 __UNKNOWN__ Intron SNP C C T rs7106608 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:83378793C>T ENST00000532653.1 - 14 1813 DLG2_ENST00000330014.6_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000280241.8_Intron|RP11-160H12.2_ENST00000533669.1_RNA|DLG2_ENST00000530800.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000531015.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000524982.1_Intron Q14168 MPP2_HUMAN discs, large homolog 2 (Drosophila) NA NA nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) guanylate kinase activity (GO:0004385) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) gaggccgaggcgggcggatca 0.517 NA C||| 2111 0.421526 0.7126 0.2248 5008 , , NA 14560 0.2192 NA 0.3638 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U32376 CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1 11q21 2012-04-17 2008-12-15 ENSG00000150672 ENSG00000150672 1740 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 2901 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 58 603583 discs, large homolog 2, chapsyn-110 (Drosophila) NA 8755482, 9806853 Standard NM_001364 NM_001142702 NA Approved PSD-93, PSD93, chapsyn-110, PPP1R58 uc001pak.2 Q15700 OTTHUMG00000134309 ENST00000532653.1:c.1511-34425G>A chr11.hg19:g.83378793C>T NA B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2 hg19 0.02 -0.138971 AGGxGGG UNCOVERED NOVEL DLG2-009 NOVEL basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000259253.2 3 2.407784 KEEP 6 0 0 8 279 CC 0 0 0 - 11 60 301 0 0 31.424581 4 60 138 42 ENST00000532653.1 0.733333 0.260965 DLG2 1740 __UNKNOWN__ __UNKNOWN__ 11 83500636 83500636 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:83500636C>G ENST00000532653.1 - 13 1710 DLG2_ENST00000330014.6_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000531015.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000524982.1_Intron Q14168 MPP2_HUMAN discs, large homolog 2 (Drosophila) NA NA nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) guanylate kinase activity (GO:0004385) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) tgttgcccagcctggagtgca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U32376 CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1 11q21 2012-04-17 2008-12-15 ENSG00000150672 ENSG00000150672 1740 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 2901 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 58 603583 discs, large homolog 2, chapsyn-110 (Drosophila) NA 8755482, 9806853 Standard NM_001364 NM_001142702 NA Approved PSD-93, PSD93, chapsyn-110, PPP1R58 uc001pak.2 Q15700 OTTHUMG00000134309 ENST00000532653.1:c.1408-2801G>C chr11.hg19:g.83500636C>G NA B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2 hg19 0.02 -0.358659 CAGxCTG COVERED NOVEL DLG2-009 NOVEL basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000259253.2 4 3.912857 KEEP 2 0 0 13 465 CC 0.994391 0.883889 0 - 3 60 97 0 0 6.692083 32 60 1039 70 ENST00000532653.1 0.085714 0.888875 DLG2 1740 __UNKNOWN__ __UNKNOWN__ 11 83585306 83585306 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:83585306A>G ENST00000532653.1 - 11 1553 DLG2_ENST00000330014.6_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000531015.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000524982.1_Intron Q14168 MPP2_HUMAN discs, large homolog 2 (Drosophila) NA NA nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) guanylate kinase activity (GO:0004385) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) aaggaaggaaagaaggaagga 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U32376 CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1 11q21 2012-04-17 2008-12-15 ENSG00000150672 ENSG00000150672 1740 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 2901 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 58 603583 discs, large homolog 2, chapsyn-110 (Drosophila) NA 8755482, 9806853 Standard NM_001364 NM_001142702 NA Approved PSD-93, PSD93, chapsyn-110, PPP1R58 uc001pak.2 Q15700 OTTHUMG00000134309 ENST00000532653.1:c.1250+156T>C chr11.hg19:g.83585306A>G NA B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2 hg19 0.02 -0.394466 GAAxGAA COVERED NOVEL DLG2-009 NOVEL basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000259253.2 12 3.310438 KEEP 1 0 0 11 360 AA 0.993072 0.920221 0 - 3 60 105 1 2 7.340782 36 60 1016 65 ENST00000532653.1 0.076923 0.92664 DLG2 1740 __UNKNOWN__ __UNKNOWN__ 11 83585309 83585309 __UNKNOWN__ Intron SNP A A G rs114350592 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:83585309A>G ENST00000532653.1 - 11 1553 DLG2_ENST00000330014.6_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000531015.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000524982.1_Intron Q14168 MPP2_HUMAN discs, large homolog 2 (Drosophila) NA NA nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) guanylate kinase activity (GO:0004385) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) gaaggaaagaaggaaggaagg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U32376 CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1 11q21 2012-04-17 2008-12-15 ENSG00000150672 ENSG00000150672 1740 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 2901 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 58 603583 discs, large homolog 2, chapsyn-110 (Drosophila) NA 8755482, 9806853 Standard NM_001364 NM_001142702 NA Approved PSD-93, PSD93, chapsyn-110, PPP1R58 uc001pak.2 Q15700 OTTHUMG00000134309 ENST00000532653.1:c.1250+153T>C chr11.hg19:g.83585309A>G NA B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2 hg19 0.02 -0.438489 AGAxGGA COVERED NOVEL DLG2-009 NOVEL basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000259253.2 12 4.20648 KEEP 1 0 0 14 416 AA 0.995343 0.955389 0 - 3 60 103 1 1 7.040158 39 60 1118 72 ENST00000532653.1 0.071429 0.959859 CCDC81 60494 __UNKNOWN__ __UNKNOWN__ 11 86120506 86120506 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:86120506A>T ENST00000445632.2 + 10 1490 CCDC81_ENST00000528728.1_Intron|CCDC81_ENST00000278487.3_Intron|CCDC81_ENST00000354755.1_Intron NM_001156474.1 NP_001149946.1 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 NA NA kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) ttttatttttattttttgaga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131331 CCDS8276.1, CCDS53691.1 11q14.2 2006-03-09 ENSG00000149201 ENSG00000149201 60494 26281 protein-coding gene gene with protein product NA Standard NM_021827 NM_001156474 NA Approved FLJ16339, FLJ23514 uc001pbx.2 Q6ZN84 OTTHUMG00000167213 ENST00000445632.2:c.1218+99A>T chr11.hg19:g.86120506A>T NA A0AVL7|Q53FW3|Q9H5E5 hg19 CCDS53691.1 0.02 3.251372 TTTxTTT COVERED NOVEL CCDC81-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393756.1 14 11.118501 KEEP 0 1 31 48 1396 AA 1 0.999989 0 + 8 60 211 2 1 12.849029 94 60 2585 207 ENST00000445632.2 0.078431 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 86390606 86390606 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:86390606A>G NA NA ME3 (6928 upstream) : CTD-2005H7.1 (23534 downstream) NA NA NA ggtggctcacacctgtaatcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.86390606A>G NA hg19 0.02 -0.289423 CACxCCT COVERED NOVEL 0 10 3.309653 KEEP 0 0 0 11 332 AA 0.993072 0.755616 0 3 60 101 0 0 7.344401 26 60 769 58 0.103448 0.760887 TMEM135 65084 __UNKNOWN__ __UNKNOWN__ 11 86889570 86889570 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:86889570G>T ENST00000305494.5 + 5 501 TMEM135_ENST00000340353.7_Intron|TMEM135_ENST00000355734.4_Missense_Mutation_p.R156S|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_Intron NM_022918.3 NP_075069.3 Q86UB9 TM135_HUMAN transmembrane protein 135 NA NA peroxisome organization (GO:0007031) integral component of membrane (GO:0016021)|peroxisome (GO:0005777) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) caggttcaagggattctcctg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648678 CCDS8280.1, CCDS53692.1 11q14.2 2006-03-09 ENSG00000166575 ENSG00000166575 65084 26167 protein-coding gene gene with protein product NA 12477932 Standard NM_022918 NM_022918 NA Approved FLJ22104 uc001pch.3 Q86UB9 OTTHUMG00000167248 ENST00000305494.5:c.462+21122G>T chr11.hg19:g.86889570G>T NA Q6AW91|Q8ND01|Q9H6M3 hg19 CCDS8280.1 0.02 1.20219 AAGxGAT COVERED . . . . . . . . . . T 0 -2.690892 0.00100 . . ENSG00000166575 ENST00000355734 T 0.07567 3.18 0.235 -0.47 0.12131 . . . . . T 0.04003 0.0112 . . . 0.09310 N 1 B 0.06786 0.001 B 0.06405 0.002 T 0.45571 -0.9252 6 . . . . . . . . 156 Q8N605 . S 156 ENSP00000347973:R156S . R + 3 2 TMEM135 86567218 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.722000 0.01868 -2.174000 0.00772 -2.211000 0.00300 AGG NOVEL TMEM135-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393875.1 4 5.620948 KEEP 0 3 86 49 1671 GG 1 0.999948 0 + 5 60 145 0 0 8.669261 79 60 2550 158 ENST00000305494.5 0.059524 0.999948 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88056914 88056914 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:88056914A>G ENST00000227266.5 - 2 433 CTSC_ENST00000524463.1_3'UTR NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C NA NA aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) acaaaccactactcaaggaaa 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.318+11190T>C chr11.hg19:g.88056914A>G NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 1.456125 ACTxCTC COVERED NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 12 6.652266 KEEP 1 1 25 31 947 AA 0.999997 0.999917 0 - 5 60 155 0 0 9.586453 82 60 2284 189 ENST00000227266.5 0.057471 0.999919 NOX4 50507 __UNKNOWN__ __UNKNOWN__ 11 89058556 89058556 __UNKNOWN__ 3'UTR SNP C C T rs539699818 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:89058556C>T ENST00000535633.1 - 0 3343 NOX4_ENST00000424319.1_3'UTR|NOX4_ENST00000343727.5_3'UTR NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 NA NA bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554) apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) cccaaagtgccgggattacag 0.433 NA c||| 2 0.000399361 0 0.0014 5008 , , NA 15905 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF254621 CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1 11q14.2-q21 2008-02-05 ENSG00000086991 ENSG00000086991 50507 7891 protein-coding gene gene with protein product 605261 NA Standard NM_016931 NM_001143837 NA Approved KOX-1, KOX uc001pct.3 Q9NPH5 OTTHUMG00000167298 ENST00000535633.1:c.*1368G>A chr11.hg19:g.89058556C>T NA A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92 hg19 CCDS44696.1 0.02 2.920908 TGCxGGG COVERED NOVEL NOX4-203 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000394051.1 25 13.111272 KEEP 3 2 64 66 2240 CC 1 0.999999 0 - 15 60 435 0 0 31.580013 96 60 3116 274 ENST00000535633.1 0.135135 0.999999 NOX4 50507 __UNKNOWN__ __UNKNOWN__ 11 89173773 89173773 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:89173773A>G ENST00000263317.4 - 6 714 NOX4_ENST00000527626.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000424319.1_Intron|NOX4_ENST00000343727.5_Intron|NOX4_ENST00000413594.2_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527956.1_Intron|NOX4_ENST00000542487.1_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000535633.1_Intron|NOX4_ENST00000534731.1_Intron|NOX4_ENST00000528341.1_Intron Q9NPH5 NOX4_HUMAN NADPH oxidase 4 NA NA bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554) apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) gaatacaggcatgagccactg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 49 44 45 NA NA NA 11 NA NA 89173773 692 1590 2282 SO:0001627 intron_variant AF254621 CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1 11q14.2-q21 2008-02-05 ENSG00000086991 ENSG00000086991 50507 7891 protein-coding gene gene with protein product 605261 NA Standard NM_016931 NM_001143837 NA Approved KOX-1, KOX uc001pct.3 Q9NPH5 OTTHUMG00000167298 ENST00000263317.4:c.475+82T>C chr11.hg19:g.89173773A>G NA A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92 hg19 CCDS8285.1 0.02 1.718977 GGCxTGA COVERED NOVEL NOX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394054.1 7 2.407199 KEEP 1 0 0 8 248 AA 0.99257 0.98632 0 - 4 60 133 0 1 8.954089 52 60 1545 101 ENST00000263317.4 0.071429 0.993703 KIAA1731 85459 __UNKNOWN__ __UNKNOWN__ 11 93412593 93412593 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:93412593G>A ENST00000325212.6 + 7 802 c.640G>A c.(640-642)Gct>Act p.A214T KIAA1731_ENST00000411936.1_Missense_Mutation_p.A214T|KIAA1731_ENST00000344196.4_De_novo_Start_OutOfFrame Q9C0D2 K1731_HUMAN KIAA1731 214 NA centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGCTCGTTTGGCTGCTGAAGA 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 122 120 121 NA NA NA 11 NA NA 93412593 692 1591 2283 SO:0001583 missense AB051518 CCDS44708.1 11q21 2014-03-11 ENSG00000166004 ENSG00000166004 85459 29366 protein-coding gene gene with protein product NA 20844083 Standard NM_033395 NM_033395 NA Approved uc009ywb.1 Q9C0D2 OTTHUMG00000167449 ENST00000325212.6:c.640G>A chr11.hg19:g.93412593G>A ENSP00000316681:p.Ala214Thr NA C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8 hg19 CCDS44708.1 0.02 1.339639 TTGxCTG COVERED . . . . . . . . . . G 23.4 4.406537 0.83230 . . ENSG00000166004 ENST00000325212;ENST00000411936 T;T 0.21361 2.01;2.01 5.29 5.29 0.74685 . 0.000000 0.42294 D 0.000739 T 0.45357 0.1338 M 0.66939 2.045 0.80722 D 1 D 0.89917 1.0 D 0.77004 0.989 T 0.37079 -0.9721 10 0.72032 D 0.01 -3.256 15.6449 0.77039 0.0:0.1374:0.8626:0.0 . 214 Q9C0D2 K1731_HUMAN T 214 ENSP00000316681:A214T;ENSP00000406505:A214T ENSP00000316681:A214T A + 1 0 KIAA1731 93052241 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 4.817000 0.62650 2.627000 0.88993 0.563000 0.77884 GCT NOVEL KIAA1731-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000394640.1 3 23.984606 KEEP 0 0 0 80 2702 GG 1 0.99994 0 + 11 60 340 0 0 24.420044 85 60 2852 248 ENST00000325212.6 0.114583 0.99994 C11orf54 28970 __UNKNOWN__ __UNKNOWN__ 11 93478897 93478897 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:93478897T>C ENST00000331239.4 + 2 87 C11orf54_ENST00000528099.1_Intron|C11orf54_ENST00000528288.1_Intron|C11orf54_ENST00000354421.3_Intron|C11orf54_ENST00000540113.1_Intron Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 NA NA metabolic process (GO:0008152) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) cctgtaatcctagcactttgg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF092133 CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1 11q21 2012-08-09 ENSG00000182919 ENSG00000182919 28970 30204 protein-coding gene gene with protein product 615810 NA 16522806 Standard NM_014039 NM_014039 NA Approved PTD012 uc001pef.3 Q9H0W9 OTTHUMG00000167452 ENST00000331239.4:c.-92-1571T>C chr11.hg19:g.93478897T>C NA A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4 hg19 0.02 -0.289412 TCCxAGC COVERED NOVEL C11orf54-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000394671.1 9 2.407437 KEEP 0 0 0 8 254 TT 0.99257 0.755234 0 + 4 60 134 0 0 10.323194 24 60 695 57 ENST00000331239.4 0.142857 0.760887 C11orf54 28970 __UNKNOWN__ __UNKNOWN__ 11 93482294 93482294 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:93482294G>A ENST00000331239.4 + 3 234 C11orf54_ENST00000528099.1_Intron|C11orf54_ENST00000528288.1_Intron|C11orf54_ENST00000354421.3_Intron|C11orf54_ENST00000540113.1_Intron Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 NA NA metabolic process (GO:0008152) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) tgggtgacagggtgagactcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF092133 CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1 11q21 2012-08-09 ENSG00000182919 ENSG00000182919 28970 30204 protein-coding gene gene with protein product 615810 NA 16522806 Standard NM_014039 NM_014039 NA Approved PTD012 uc001pef.3 Q9H0W9 OTTHUMG00000167452 ENST00000331239.4:c.56-1218G>A chr11.hg19:g.93482294G>A NA A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4 hg19 0.02 1.555161 CAGxGTG COVERED NOVEL C11orf54-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000394671.1 11 3.901778 KEEP 3 1 34 25 812 GG 0.999931 0.989474 0 + 5 60 152 0 1 10.486528 46 60 1510 110 ENST00000331239.4 0.098039 0.989542 C11orf54 28970 __UNKNOWN__ __UNKNOWN__ 11 93496668 93496668 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:93496668A>T ENST00000528288.1 + 0 2847 NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 NA NA metabolic process (GO:0008152) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) cctagtacttagggagaccaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF092133 CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1 11q21 2012-08-09 ENSG00000182919 ENSG00000182919 28970 30204 protein-coding gene gene with protein product 615810 NA 16522806 Standard NM_014039 NM_014039 NA Approved PTD012 uc001pef.3 Q9H0W9 OTTHUMG00000167452 ENST00000528288.1:c.*1814A>T chr11.hg19:g.93496668A>T NA A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4 hg19 CCDS8294.1 0.02 1.171008 CTTxGGG COVERED NOVEL C11orf54-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000394669.2 6 6.824657 KEEP 0 1 6 25 766 AA 0.999957 0.99751 0 + 6 60 145 0 0 8.660701 60 60 1705 118 ENST00000528288.1 0.090909 0.997553 C11orf54 28970 __UNKNOWN__ __UNKNOWN__ 11 93497260 93497260 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:93497260A>G ENST00000528288.1 + 0 3439 NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 NA NA metabolic process (GO:0008152) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) gattacaggcatgggccacca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF092133 CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1 11q21 2012-08-09 ENSG00000182919 ENSG00000182919 28970 30204 protein-coding gene gene with protein product 615810 NA 16522806 Standard NM_014039 NM_014039 NA Approved PTD012 uc001pef.3 Q9H0W9 OTTHUMG00000167452 ENST00000528288.1:c.*2406A>G chr11.hg19:g.93497260A>G NA A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4 hg19 CCDS8294.1 0.02 -0.219254 GGCxTGG COVERED NOVEL C11orf54-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000394669.2 2 4.513496 KEEP 0 0 0 15 464 AA 0.99649 0.550947 0 + 4 60 136 0 0 10.894579 19 60 551 53 ENST00000528288.1 0.173913 0.552887 C11orf54 28970 __UNKNOWN__ __UNKNOWN__ 11 93497263 93497263 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:93497263G>A ENST00000528288.1 + 0 3442 NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 NA NA metabolic process (GO:0008152) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) tacaggcatgggccaccatgt 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF092133 CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1 11q21 2012-08-09 ENSG00000182919 ENSG00000182919 28970 30204 protein-coding gene gene with protein product 615810 NA 16522806 Standard NM_014039 NM_014039 NA Approved PTD012 uc001pef.3 Q9H0W9 OTTHUMG00000167452 ENST00000528288.1:c.*2409G>A chr11.hg19:g.93497263G>A NA A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4 hg19 CCDS8294.1 0.02 -0.210482 ATGxGCC COVERED NOVEL C11orf54-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000394669.2 2 4.814874 KEEP 0 0 0 16 538 GG 0.997832 0.551689 0 + 3 60 93 0 0 6.992354 18 60 591 55 ENST00000528288.1 0.142857 0.552887 C11orf54 28970 __UNKNOWN__ __UNKNOWN__ 11 93497899 93497899 __UNKNOWN__ 3'UTR SNP G G C rs559964622 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:93497899G>C ENST00000528288.1 + 0 4078 NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 NA NA metabolic process (GO:0008152) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) caggcatgaggcactgcaccT 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF092133 CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1 11q21 2012-08-09 ENSG00000182919 ENSG00000182919 28970 30204 protein-coding gene gene with protein product 615810 NA 16522806 Standard NM_014039 NM_014039 NA Approved PTD012 uc001pef.3 Q9H0W9 OTTHUMG00000167452 ENST00000528288.1:c.*3045G>C chr11.hg19:g.93497899G>C NA A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4 hg19 CCDS8294.1 0.02 3.493461 GAGxCAC COVERED NOVEL C11orf54-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000394669.2 26 20.180641 KEEP 0 1 37 80 2794 GG 1 1 0 + 5 60 174 0 0 10.656631 121 60 4038 305 ENST00000528288.1 0.039683 1 HEPHL1 341208 __UNKNOWN__ __UNKNOWN__ 11 93806555 93806555 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:93806555C>A ENST00000315765.9 + 8 1462 c.1454C>A c.(1453-1455)cCc>cAc p.P485H NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 485 Plastocyanin-like 3. NA copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021) copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AGCATTTTACCCCATGGTGTG 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 63 59 60 NA NA NA 11 NA NA 93806555 1910 4120 6030 SO:0001583 missense BX641008 CCDS44710.1 11q21 2008-02-05 ENSG00000181333 ENSG00000181333 341208 30477 protein-coding gene gene with protein product NA Standard XM_291947 NM_001098672 NA Approved DKFZp686F22190 uc001pep.2 Q6MZM0 OTTHUMG00000167751 ENST00000315765.9:c.1454C>A chr11.hg19:g.93806555C>A ENSP00000313699:p.Pro485His NA Q3C1W7 hg19 CCDS44710.1 0.02 1.29818 TACxCCA COVERED . . . . . . . . . . C 24.0 4.483574 0.84854 . . ENSG00000181333 ENST00000315765 D 0.99454 -5.92 5.51 5.51 0.81932 Cupredoxin (2);Multicopper oxidase, type 3 (1); 0.052468 0.85682 D 0.000000 D 0.99625 0.9863 M 0.90759 3.145 0.53005 D 0.999964 D 0.89917 1.0 D 0.87578 0.998 D 0.98091 1.0409 10 0.72032 D 0.01 . 19.4293 0.94758 0.0:1.0:0.0:0.0 . 485 Q6MZM0 HPHL1_HUMAN H 485 ENSP00000313699:P485H ENSP00000313699:P485H P + 2 0 HEPHL1 93446203 1.000000 0.71417 0.998000 0.56505 0.784000 0.44337 7.138000 0.77305 2.581000 0.87130 0.650000 0.86243 CCC NOVEL HEPHL1-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396103.2 4 12.938343 KEEP 0 0 0 43 1488 CC 1 0.99911 0 + 25 60 726 0 0 63.277191 53 60 1755 169 ENST00000315765.9 0.320513 0.99911 AMOTL1 154810 __UNKNOWN__ __UNKNOWN__ 11 94608921 94608921 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:94608921G>T ENST00000433060.2 + 0 7973 AMOTL1_ENST00000317829.8_3'UTR|AMOTL1_ENST00000317837.9_3'UTR|RP11-856F16.2_ENST00000545958.1_RNA NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 NA NA establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055) apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923) identical protein binding (GO:0042802) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) AAATTTCTTGGAATGAGTCTT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF453742 CCDS44712.1, CCDS73368.1 11q21 2008-07-18 ENSG00000166025 154810 17811 protein-coding gene gene with protein product junction-enriched and associated protein 614657 NA 11733531 Standard NM_130847 XM_005273798 NA Approved JEAP uc001pfb.3 Q8IY63 ENST00000433060.2:c.*4961G>T chr11.hg19:g.94608921G>T NA Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5 hg19 CCDS44712.1 0.02 1.444869 TTGxAAT COVERED NOVEL AMOTL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396474.3 0 10.232785 KEEP 0 0 0 34 1177 GG 0.999998 0.963772 0 + 20 60 568 0 0 51.504523 31 60 1019 113 ENST00000433060.2 0.392157 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 95457302 95457302 __UNKNOWN__ IGR SNP A A G rs555582326 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:95457302A>G NA NA RP11-644L4.1 (23515 upstream) : FAM76B (44803 downstream) NA NA NA aaaactggccaggtgcggtgg 0.453 NA A||| 1 0.000199681 0 0.0014 5008 , , NA 16645 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.95457302A>G NA hg19 0.02 -0.201693 GCCxGGT COVERED NOVEL 0 7 2.407464 KEEP 0 0 0 8 255 AA 0.99257 0.4869 0 3 52 87 1 0 6.462485 17 60 498 43 0.15 0.490544 MAML2 84441 __UNKNOWN__ __UNKNOWN__ 11 95914134 95914134 __UNKNOWN__ Intron SNP G G T rs7945357 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:95914134G>T ENST00000524717.1 - 2 1798 NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) NA NA gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367) Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) aggagtgggggtcgcaaggtg 0.512 NA T MECT1, CRTC3 salivary gland mucoepidermoid G||| 306 0.0611022 0.0946 0.062 5008 , , NA 16312 0.0377 NA 0.0408 False NA ,,, NA NA NA 2504 0.0603 NA NA NA Dom yes 11 11q22-q23 84441 mastermind-like 2 (Drosophila) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058722 CCDS44714.1 11q 2008-02-05 2001-11-28 ENSG00000184384 ENSG00000184384 84441 16259 protein-coding gene gene with protein product 607537 mastermind (Drosophila)-like 2 NA 12370315, 12386158 Standard NM_032427 NA Approved KIAA1819, MAM3 uc001pfw.1 Q8IZL2 OTTHUMG00000167677 ENST00000524717.1:c.514-87453C>A chr11.hg19:g.95914134G>T NA A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6 hg19 CCDS44714.1 0.02 -0.2617 GGGxTCG COVERED NOVEL MAML2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395540.1 3 2.7085 KEEP 1 0 0 9 298 GG 0.99254 0.688494 0 - 7 34 183 0 0 14.583684 23 50 761 59 ENST00000524717.1 0.233333 0.693668 MAML2 84441 __UNKNOWN__ __UNKNOWN__ 11 95977081 95977081 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:95977081T>A ENST00000524717.1 - 1 1798 NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) NA NA gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367) Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) ctgggattactggcgtgagcc 0.507 NA T MECT1, CRTC3 salivary gland mucoepidermoid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 11 11q22-q23 84441 mastermind-like 2 (Drosophila) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058722 CCDS44714.1 11q 2008-02-05 2001-11-28 ENSG00000184384 ENSG00000184384 84441 16259 protein-coding gene gene with protein product 607537 mastermind (Drosophila)-like 2 NA 12370315, 12386158 Standard NM_032427 NA Approved KIAA1819, MAM3 uc001pfw.1 Q8IZL2 OTTHUMG00000167677 ENST00000524717.1:c.513+97465A>T chr11.hg19:g.95977081T>A NA A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6 hg19 CCDS44714.1 0.02 -0.324526 TACxGGC COVERED NOVEL MAML2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395540.1 5 3.610325 KEEP 0 0 0 12 371 TT 0.993634 0.830395 0 - 4 60 119 1 0 8.358588 32 60 968 72 ENST00000524717.1 0.111111 0.835716 KIAA1377 57562 __UNKNOWN__ __UNKNOWN__ 11 101870662 101870662 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:101870662T>C ENST00000263468.8 + 0 5912 NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 NA NA breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) gcctgtaatctcagcactttg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095004 CCDS31658.1 11q22.2 2006-02-03 ENSG00000110318 ENSG00000110318 57562 29264 protein-coding gene gene with protein product 614634 NA 10718198 Standard NM_020802 XM_005271627 NA Approved uc001pgm.3 Q9P2H0 OTTHUMG00000167319 ENST00000263468.8:c.*2288T>C chr11.hg19:g.101870662T>C NA Q4G0U6 hg19 CCDS31658.1 0.02 3.432698 ATCxCAG COVERED NOVEL KIAA1377-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394140.1 32 8.993604 KEEP 2 2 72 55 1772 TT 1 1 0 + 6 60 186 0 0 10.956835 123 60 3752 286 ENST00000263468.8 0.046512 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 102119197 102119197 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:102119197A>T NA NA YAP1 (15043 upstream) : RNU6-952P (65255 downstream) NA NA NA cccaaagtgcagggattacag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.102119197A>T NA hg19 0.02 1.251988 TGCxGGG COVERED NOVEL 0 9 4.848574 KEEP 1 1 31 27 862 AA 0.999997 0.997895 0 5 60 138 0 0 8.653663 57 60 1702 128 0.080645 0.997898 MMP1 4312 __UNKNOWN__ __UNKNOWN__ 11 102661595 102661595 __UNKNOWN__ Intron SNP A A G rs470747 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:102661595A>G ENST00000315274.6 - 9 1264 WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) NA NA blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) Marimastat(DB00786) CACTCTGAAAATCATTACAGA 0.358 NA A||| 1446 0.288738 0.3729 0.2349 5008 , , NA 20676 0.0913 NA 0.3559 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X54925 CCDS8322.1 11q21-q22 2014-01-30 2005-08-08 ENSG00000196611 ENSG00000196611 4312 3.4.24.7 Endogenous ligands 7155 protein-coding gene gene with protein product 120353 matrix metalloproteinase 1 (interstitial collagenase) CLG NA Standard NM_002421 NM_002421 NA Approved uc001phi.2 P03956 OTTHUMG00000048192 ENST00000315274.6:c.1197-58T>C chr11.hg19:g.102661595A>G NA P08156 hg19 CCDS8322.1 0.02 -0.368333 AAAxTCA COVERED NOVEL MMP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109632.1 1 5.414294 KEEP 0 0 0 18 536 AA 0.999859 0.899187 0 - 4 60 143 0 0 10.473984 38 60 1113 83 ENST00000315274.6 0.095238 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 107132723 107132723 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:107132723C>T NA NA GUCY1A2 (243473 upstream) : RP11-819C21.1 (50134 downstream) NA NA NA ggcggatcacctgaggtcagg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.107132723C>T NA hg19 0.02 -0.149133 CACxTGA COVERED NOVEL 0 5 2.70904 KEEP 1 0 0 9 339 CC 0.99254 0.289823 0 3 51 89 0 0 6.978878 13 60 458 36 0.1875 0.292001 SLC35F2 54733 __UNKNOWN__ __UNKNOWN__ 11 107699598 107699598 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:107699598C>T ENST00000525815.1 - 2 531 SLC35F2_ENST00000525071.1_Intron|SLC35F2_ENST00000265836.7_Intron|SLC35F2_ENST00000429869.1_Intron|SLC35F2_ENST00000375682.4_Intron NM_017515.4 NP_059985.2 Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) tttgggaggccgaggtgggca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41709.1 11q22.3 2013-05-22 ENSG00000110660 ENSG00000110660 54733 Solute carriers 23615 protein-coding gene gene with protein product NA 9119394 Standard NM_017515 NM_017515 NA Approved FLJ13018 uc001pjq.3 Q8IXU6 OTTHUMG00000166366 ENST00000525815.1:c.111-12907G>A chr11.hg19:g.107699598C>T NA Q14963|Q5JPA8|Q6ZRQ3|Q9H947 hg19 CCDS41709.1 0.02 -0.279981 GGCxGAG COVERED NOVEL SLC35F2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389417.1 7 2.407011 KEEP 1 0 0 8 250 CC 0.99257 0.734176 0 - 3 60 92 0 0 6.493146 25 60 865 61 ENST00000525815.1 0.107143 0.739671 RP11-144G7.2 0 __UNKNOWN__ __UNKNOWN__ 11 107987271 107987271 __UNKNOWN__ RNA SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:107987271C>G ENST00000525548.1 - 0 389 NA NA NA gattacaggcctgagccacca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000525548.1: chr11.hg19:g.107987271C>G NA hg19 0.02 -0.254401 GGCxTGA COVERED NOVEL RP11-144G7.2-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000389505.1 4 2.708951 KEEP 0 0 0 9 329 CC 0.99254 0.688494 0 - 3 60 103 0 0 7.694204 23 60 771 55 ENST00000525548.1 0.115385 0.693668 ATM 472 __UNKNOWN__ __UNKNOWN__ 11 108166401 108166401 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:108166401A>G ENST00000452508.2 + 33 5098 ATM_ENST00000278616.4_Intron Q13315 ATM_HUMAN ATM serine/threonine kinase NA NA brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723) cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) Caffeine(DB00201) ctttttttttaagacggagtt 0.478 NA D, Mis, N, F, S T-PLL leukemia, lymphoma, medulloblastoma, glioma Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes Ataxia-telangiectasia 11 11q22.3 472 ataxia telangiectasia mutated L, O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database AT, Louis-Bar syndrome AB209133 CCDS31669.1 11q22-q23 2014-09-17 2014-06-17 ENSG00000149311 ENSG00000149311 472 795 protein-coding gene gene with protein product TEL1, telomere maintenance 1, homolog (S. cerevisiae) 607585 ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated ATA, ATDC, ATC, ATD NA Standard NM_000051 XM_005271561 NA Approved TEL1, TELO1 uc001pkb.1 Q13315 OTTHUMG00000166480 ENST00000452508.2:c.4909+615A>G chr11.hg19:g.108166401A>G NA B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7 hg19 CCDS31669.1 0.02 3.847745 TTTxAGA COVERED NOVEL ATM-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389938.1 26 2.578091 KEEP 0 2 73 34 1033 AA 0.999999 0.999986 0 + 6 60 207 1 1 13.906462 87 60 2372 199 ENST00000452508.2 0.064516 0.999987 ATM 472 __UNKNOWN__ __UNKNOWN__ 11 108166411 108166411 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:108166411T>C ENST00000452508.2 + 33 5098 ATM_ENST00000278616.4_Intron Q13315 ATM_HUMAN ATM serine/threonine kinase NA NA brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723) cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) Caffeine(DB00201) aagacggagtttcgctcttgt 0.473 NA D, Mis, N, F, S T-PLL leukemia, lymphoma, medulloblastoma, glioma Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes Ataxia-telangiectasia 11 11q22.3 472 ataxia telangiectasia mutated L, O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database AT, Louis-Bar syndrome AB209133 CCDS31669.1 11q22-q23 2014-09-17 2014-06-17 ENSG00000149311 ENSG00000149311 472 795 protein-coding gene gene with protein product TEL1, telomere maintenance 1, homolog (S. cerevisiae) 607585 ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated ATA, ATDC, ATC, ATD NA Standard NM_000051 XM_005271561 NA Approved TEL1, TELO1 uc001pkb.1 Q13315 OTTHUMG00000166480 ENST00000452508.2:c.4909+625T>C chr11.hg19:g.108166411T>C NA B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7 hg19 CCDS31669.1 0.02 1.719944 AGTxTCG COVERED NOVEL ATM-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389938.1 20 6.354609 KEEP 0 1 37 34 1084 TT 0.999999 0.999954 0 + 4 60 142 0 0 9.107204 81 60 2373 184 ENST00000452508.2 0.047059 0.999956 ATM 472 __UNKNOWN__ __UNKNOWN__ 11 108236471 108236471 __UNKNOWN__ 3'UTR SNP C C T rs3092834 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:108236471C>T ENST00000452508.2 + 0 9596 ATM_ENST00000278616.4_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron Q13315 ATM_HUMAN ATM serine/threonine kinase NA NA brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723) cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) Caffeine(DB00201) ctgggcgcagcggctcacgcc 0.502 NA D, Mis, N, F, S T-PLL leukemia, lymphoma, medulloblastoma, glioma Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) C||| 14 0.00279553 0.0076 0.0043 5008 , , NA 16366 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA yes Rec yes Ataxia-telangiectasia 11 11q22.3 472 ataxia telangiectasia mutated L, O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database AT, Louis-Bar syndrome AB209133 CCDS31669.1 11q22-q23 2014-09-17 2014-06-17 ENSG00000149311 ENSG00000149311 472 795 protein-coding gene gene with protein product TEL1, telomere maintenance 1, homolog (S. cerevisiae) 607585 ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated ATA, ATDC, ATC, ATD NA Standard NM_000051 XM_005271561 NA Approved TEL1, TELO1 uc001pkb.1 Q13315 OTTHUMG00000166480 ENST00000452508.2:c.*236C>T chr11.hg19:g.108236471C>T NA B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7 hg19 CCDS31669.1 0.02 5.608624 CAGxGGC COVERED NOVEL ATM-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389938.1 25 30.867929 KEEP 1 2 61 124 4352 CC 1 1 0 + 8 60 238 0 0 12.552405 223 60 7523 551 ENST00000452508.2 0.034632 1 ATM 472 __UNKNOWN__ __UNKNOWN__ 11 108238991 108238991 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:108238991T>G ENST00000452508.2 + 0 12116 ATM_ENST00000278616.4_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron Q13315 ATM_HUMAN ATM serine/threonine kinase NA NA brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723) cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) Caffeine(DB00201) attccagccttggcgacagag 0.348 NA D, Mis, N, F, S T-PLL leukemia, lymphoma, medulloblastoma, glioma Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes Ataxia-telangiectasia 11 11q22.3 472 ataxia telangiectasia mutated L, O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database AT, Louis-Bar syndrome AB209133 CCDS31669.1 11q22-q23 2014-09-17 2014-06-17 ENSG00000149311 ENSG00000149311 472 795 protein-coding gene gene with protein product TEL1, telomere maintenance 1, homolog (S. cerevisiae) 607585 ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated ATA, ATDC, ATC, ATD NA Standard NM_000051 XM_005271561 NA Approved TEL1, TELO1 uc001pkb.1 Q13315 OTTHUMG00000166480 ENST00000452508.2:c.*2756T>G chr11.hg19:g.108238991T>G NA B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7 hg19 CCDS31669.1 0.02 -0.324353 CCTxGGC COVERED NOVEL ATM-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389938.1 1 3.910775 KEEP 0 0 0 13 375 TT 0.994391 0.831028 0 + 4 60 117 0 0 8.436172 27 60 725 54 ENST00000452508.2 0.129032 0.835716 EXPH5 23086 __UNKNOWN__ __UNKNOWN__ 11 108444903 108444903 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:108444903G>T ENST00000265843.4 - 1 230 EXPH5_ENST00000525344.1_Intron NM_015065.2 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 NA NA intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714) endosome (GO:0005768) Rab GTPase binding (GO:0017137) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) cccaaagtgcggagattacag 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8341.1 11q22.3 2008-02-05 ENSG00000110723 ENSG00000110723 23086 30578 protein-coding gene gene with protein product synaptotagmin-like homologue lacking C2 domains b 612878 NA 9734811, 11773082 Standard NM_015065 NM_015065 NA Approved SLAC2-B uc001pkk.3 Q8NEV8 OTTHUMG00000166536 ENST00000265843.4:c.119+19241C>A chr11.hg19:g.108444903G>T NA Q2KHM1|Q9Y4D6 hg19 CCDS8341.1 0.02 -0.236841 TGCxGAG COVERED NOVEL EXPH5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390279.1 6 2.407659 KEEP 0 0 0 8 267 GG 0.99257 0.607857 0 - 3 60 92 0 0 6.765258 20 60 682 48 ENST00000265843.4 0.130435 0.612407 EXPH5 23086 __UNKNOWN__ __UNKNOWN__ 11 108444905 108444905 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:108444905A>G ENST00000265843.4 - 1 230 EXPH5_ENST00000525344.1_Intron NM_015065.2 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 NA NA intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714) endosome (GO:0005768) Rab GTPase binding (GO:0017137) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) caaagtgcggagattacaggc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8341.1 11q22.3 2008-02-05 ENSG00000110723 ENSG00000110723 23086 30578 protein-coding gene gene with protein product synaptotagmin-like homologue lacking C2 domains b 612878 NA 9734811, 11773082 Standard NM_015065 NM_015065 NA Approved SLAC2-B uc001pkk.3 Q8NEV8 OTTHUMG00000166536 ENST00000265843.4:c.119+19239T>C chr11.hg19:g.108444905A>G NA Q2KHM1|Q9Y4D6 hg19 CCDS8341.1 0.02 -0.245596 CGGxGAT COVERED NOVEL EXPH5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390279.1 6 2.407669 KEEP 0 0 0 8 266 AA 0.99257 0.636582 0 - 3 60 105 0 0 8.064576 20 60 604 49 ENST00000265843.4 0.130435 0.641347 FDX1 2230 __UNKNOWN__ __UNKNOWN__ 11 110334900 110334900 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:110334900A>G ENST00000260270.2 + 0 2501 NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 NA NA cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) 2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506) lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) gcctcccaaaatgctgggatt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M23668 CCDS8344.1 11q22.3 2008-02-01 ENSG00000137714 ENSG00000137714 2230 3638 protein-coding gene gene with protein product adrenodoxin 103260 FDX NA 2969697 Standard NM_004109 NM_004109 NA Approved ADX uc001pkx.3 P10109 OTTHUMG00000166589 ENST00000260270.2:c.*1708A>G chr11.hg19:g.110334900A>G NA B0YJ14|Q53YD6 hg19 CCDS8344.1 0.02 3.692852 AAAxTGC COVERED NOVEL FDX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390590.1 28 3.251903 KEEP 1 4 138 59 1913 AA 1 1 0 + 11 60 370 1 0 26.126396 113 60 3358 286 ENST00000260270.2 0.08871 1 POU2AF1 5450 __UNKNOWN__ __UNKNOWN__ 11 111223722 111223722 __UNKNOWN__ 3'UTR SNP G G A rs58425211 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:111223722G>A ENST00000393067.3 - 0 2549 NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 NA NA humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712) breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) aaggaaagaaggaaggaagga 0.468 NA T BCL6 NHL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 11 11q23.1 5450 POU domain, class 2, associating factor 1 (OBF1) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31675.1 11q23.1 2011-06-01 2007-07-13 ENSG00000110777 5450 9211 protein-coding gene gene with protein product 601206 POU domain class 2, associating factor 1 NA 8617501 Standard NM_006235 NM_006235 NA Approved OBF1 uc001plg.4 Q16633 ENST00000393067.3:c.*1264C>T chr11.hg19:g.111223722G>A NA B2R8Z9|Q14983 hg19 CCDS31675.1 0.02 1.438915 GAAxGAA COVERED NOVEL POU2AF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391002.1 5 3.437185 KEEP 3 1 30 22 711 GG 0.999879 0.991974 0 - 6 60 172 0 0 11.942972 47 60 1467 97 ENST00000393067.3 0.113208 0.992094 PPP2R1B 5519 __UNKNOWN__ __UNKNOWN__ 11 111609606 111609606 __UNKNOWN__ Intron SNP T T G rs7131029|rs544205885|rs56811580 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:111609606T>G ENST00000426998.2 - 13 1622 PPP2R1B_ENST00000311129.5_Intron|PPP2R1B_ENST00000527614.1_3'UTR NM_181700.1 NP_859051.1 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta NA NA apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241) extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) GGTTATAtgtttgtgtgtgtg 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF087438 CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1 11q23.1 2010-06-18 2010-04-14 ENSG00000137713 ENSG00000137713 5519 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 9303 protein-coding gene gene with protein product PP2A-A-beta, protein phosphatase 2A, regulatory subunit A, beta isoform 603113 protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform NA 2159327, 9795170 Standard NM_002716 NM_181699 NA Approved PR65B, PP2A-Abeta uc001plw.1 P30154 OTTHUMG00000166741 ENST00000426998.2:c.1598-1313A>C chr11.hg19:g.111609606T>G NA A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8 hg19 CCDS53706.1 0.02 -0.201393 TGTxTGT COVERED NOVEL PPP2R1B-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000391297.1 2 2.736305 KEEP 0 1 5 11 331 TT 0.993634 0.487421 0 - 3 60 94 0 1 7.03006 19 60 522 38 ENST00000426998.2 0.136364 0.490544 RP11-108O10.2 0 __UNKNOWN__ __UNKNOWN__ 11 111639566 111639566 __UNKNOWN__ lincRNA SNP C C T rs657274|rs57771809|rs113688304|rs372397871 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:111639566C>T ENST00000529841.1 - 0 608 NA NA NA tgtgtgtgtgcgtgtgtgtgt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000529841.1: chr11.hg19:g.111639566C>T NA hg19 0.02 -0.157882 GTGxGTG COVERED NOVEL RP11-108O10.2-002 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000391478.1 6 2.407049 KEEP 0 0 0 8 257 CC 0.99257 0.320408 0 - 3 60 91 0 0 7.091948 14 60 455 36 ENST00000529841.1 0.176471 0.322807 DIXDC1 85458 __UNKNOWN__ __UNKNOWN__ 11 111803028 111803028 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:111803028T>C ENST00000529225.1 + 2 337 NM_001278542.1 NP_001265471.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 NA NA camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055) axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435) cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) tcccaaagtgttgggattaca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051522 CCDS60957.1, CCDS73381.1, CCDS73382.1 11q23.1 2014-03-20 ENSG00000150764 ENSG00000150764 85458 23695 protein-coding gene gene with protein product 610493 NA 12792787 Standard NM_001037954 NM_001037954 NA Approved KIAA1735, Dixin uc001pmm.3 Q155Q3 OTTHUMG00000166912 ENST00000529225.1:c.57+2394T>C chr11.hg19:g.111803028T>C NA A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8 hg19 0.02 -0.184191 GTGxTGG COVERED NOVEL DIXDC1-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000391831.1 5 2.407592 KEEP 0 0 0 8 263 TT 0.99257 0.420331 0 + 4 60 135 0 0 11.381184 13 60 381 46 ENST00000529225.1 0.235294 0.423478 C11orf57 55216 __UNKNOWN__ __UNKNOWN__ 11 111948847 111948847 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:111948847T>C ENST00000393047.3 + 3 678 C11orf57_ENST00000530104.1_Intron|C11orf57_ENST00000420986.2_Intron|C11orf57_ENST00000280352.9_Intron|C11orf57_ENST00000532163.1_Intron Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 NA NA autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) ggattacaggtgtgagccact 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX538107 CCDS8356.2, CCDS41715.1, CCDS73383.1 11q23.1 2006-03-09 ENSG00000150776 ENSG00000150776 55216 25569 protein-coding gene gene with protein product NA 12477932 Standard NM_018195 NM_001082970 NA Approved FLJ10726 uc001pmw.4 Q6ZUT1 OTTHUMG00000150213 ENST00000393047.3:c.70-92T>C chr11.hg19:g.111948847T>C NA Q5RL41|Q6IN53|Q7Z357|Q8N2T3 hg19 CCDS8356.2 0.02 -0.315496 AGGxGTG COVERED NOVEL C11orf57-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316853.1 6 5.247029 KEEP 0 1 39 31 899 TT 0.999997 0.818463 0 + 4 60 137 0 0 10.15798 32 60 886 80 ENST00000393047.3 0.111111 0.818465 SDHD 6392 __UNKNOWN__ __UNKNOWN__ 11 111974221 111974221 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:111974221T>C ENST00000532699.1 + 3 319 SDHD_ENST00000528021.1_Intron O14521 DHSD_HUMAN succinate dehydrogenase complex, subunit D, integral membrane protein NA NA cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739) electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515) Hexachlorophene(DB00756)|Succinic acid(DB00139) gctgggattataggtgtgagc 0.493 NA Mis, N, F, S paraganglioma, pheochromocytoma Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Familial paraganglioma 11 11q23 6392 succinate dehydrogenase complex, subunit D, integral membrane protein O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad AB006202 CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1 11q23 2014-09-17 ENSG00000204370 6392 Mitochondrial respiratory chain complex / Complex II 10683 protein-coding gene gene with protein product 602690 PGL, PGL1 NA 9533030, 1301144 Standard NM_003002 NM_003002 NA Approved uc001pmz.4 O14521 ENST00000532699.1:c.314+14486T>C chr11.hg19:g.111974221T>C NA A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2 hg19 0.02 -0.166617 TTAxAGG COVERED NOVEL SDHD-002 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000393483.1 4 2.407427 KEEP 0 0 0 8 253 TT 0.99257 0.351317 0 + 3 60 94 0 0 7.311473 15 60 428 41 ENST00000532699.1 0.166667 0.353947 NCAM1 4684 __UNKNOWN__ __UNKNOWN__ 11 112952319 112952319 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:112952319C>T ENST00000533760.1 + 1 297 NCAM1_ENST00000397957.4_Intron NM_001242608.1 NP_001229537.1 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) identical protein binding (GO:0042802) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) tgcagtggcacgatctcggct 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1 11q23.2 2013-02-11 ENSG00000149294 ENSG00000149294 4684 CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7656 protein-coding gene gene with protein product 116930 NA Standard NM_000615 NM_000615 NA Approved NCAM, CD56 uc021qqp.1 P13591 OTTHUMG00000167196 ENST00000533760.1:c.-303+119933C>T chr11.hg19:g.112952319C>T NA A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3 hg19 0.02 1.351705 GCAxGAT COVERED NOVEL NCAM1-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000394068.2 4 2.843273 KEEP 0 1 33 21 682 CC 0.999879 0.997777 0 + 4 60 122 0 1 7.677172 58 60 1735 114 ENST00000533760.1 0.064516 0.997898 NCAM1 4684 __UNKNOWN__ __UNKNOWN__ 11 113146211 113146211 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:113146211A>C ENST00000397957.4 + 0 2890 NCAM1_ENST00000316851.7_3'UTR P13591 NCAM1_HUMAN neural cell adhesion molecule 1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) identical protein binding (GO:0042802) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) cacacacacaaacacacatgc 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1 11q23.2 2013-02-11 ENSG00000149294 ENSG00000149294 4684 CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7656 protein-coding gene gene with protein product 116930 NA Standard NM_000615 NM_000615 NA Approved NCAM, CD56 uc021qqp.1 P13591 OTTHUMG00000167196 ENST00000397957.4:c.*2887A>C chr11.hg19:g.113146211A>C NA A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3 hg19 0.02 11.552086 ACAxACA COVERED NOVEL NCAM1-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000393677.2 59 23.773801 KEEP 2 9 274 175 5290 AA 1 1 0 + 16 60 538 0 0 34.81994 264 60 7485 705 ENST00000397957.4 0.057143 1 TMPRSS5 80975 __UNKNOWN__ __UNKNOWN__ 11 113569929 113569929 __UNKNOWN__ Intron SNP G G C rs112329824|rs72103801 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:113569929G>C ENST00000536856.1 - 2 85 TMPRSS5_ENST00000540540.1_Intron|TMPRSS5_ENST00000545579.1_Intron|TMPRSS5_ENST00000299882.5_Intron|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000538955.1_Intron|TMPRSS5_ENST00000544476.1_Intron Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 NA NA proteolysis (GO:0006508) integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) tcctttgtctgtctgtctctc 0.547 NA N||| 291 0.058107 0.0673 0.0562 5008 , , NA 15853 0.0407 NA 0.0477 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028140 CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1 11q 2010-04-13 2008-07-31 ENSG00000166682 ENSG00000166682 80975 Serine peptidases / Transmembrane 14908 protein-coding gene gene with protein product spinesin 606751 NA Standard NM_030770 NM_030770 NA Approved MGC141886, MGC148044 uc001poc.4 Q9H3S3 OTTHUMG00000168186 ENST00000536856.1:c.572-180C>G chr11.hg19:g.113569929G>C NA hg19 0.02 -0.184152 TCTxTCT UNCOVERED NOVEL TMPRSS5-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000398650.1 22 2.407771 KEEP 24 0 0 8 274 GG 0 0 0 - 3 60 94 0 0 8.179715 7 60 211 66 ENST00000536856.1 0.3 0.423478 USP28 57646 __UNKNOWN__ __UNKNOWN__ 11 113668973 113668973 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:113668973T>C ENST00000003302.4 - 0 4291 USP28_ENST00000260188.5_3'UTR|USP28_ENST00000544967.1_3'UTR NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 NA NA cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) cccatctctattaaaaataca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040948 CCDS31680.1, CCDS73394.1 11q23 2008-04-11 2005-08-08 ENSG00000048028 ENSG00000048028 57646 Ubiquitin-specific peptidases 12625 protein-coding gene gene with protein product 610748 ubiquitin specific protease 28 NA 12838346, 11597335 Standard XM_005271630 NA Approved KIAA1515 uc001poh.3 Q96RU2 OTTHUMG00000168205 ENST00000003302.4:c.*989A>G chr11.hg19:g.113668973T>C NA B0YJC0|B0YJC1|Q9P213 hg19 CCDS31680.1 0.02 2.141034 CTAxTAA COVERED NOVEL USP28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398789.1 6 7.824007 KEEP 0 0 0 26 844 TT 0.999957 0.967383 0 - 5 60 157 0 0 11.487643 36 60 1050 86 ENST00000003302.4 0.121951 0.967425 NXPE2 120406 __UNKNOWN__ __UNKNOWN__ 11 114578230 114578230 __UNKNOWN__ Missense_Mutation SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:114578230A>C ENST00000375475.5 + 5 1141 c.1043A>C c.(1042-1044)gAc>gCc p.D348A Q96DL1 NXPE2_HUMAN neurexophilin and PC-esterase domain family, member 2 0 NA integral component of membrane (GO:0016021) NA gattctcctgactcagcctcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK057953 CCDS44738.1 11q23.2 2012-06-14 2012-06-11 2012-06-11 ENSG00000204361 ENSG00000204361 120406 26331 protein-coding gene gene with protein product family with sequence similarity 55, member B FAM55B NA Standard NM_182495 NM_182495 NA Approved FLJ25224 uc009yyy.2 Q96DL1 OTTHUMG00000168293 ENST00000375475.5:c.1043A>C chr11.hg19:g.114578230A>C ENSP00000364624:p.Asp348Ala NA Q2NKI8 hg19 0.02 3.704741 CTGxCTC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 0.208|0.208 -1.038710|-1.038710 0.02013|0.02013 .|. .|. ENSG00000204361|ENSG00000204361 ENST00000505358|ENST00000375475 .|. .|. .|. 0.235|0.235 0.235|0.235 0.15431|0.15431 .|. .|. .|. .|. .|. T|. 0.30759|. 0.0775|. .|. .|. .|. 0.09310|0.09310 N|N 1|1 .|. .|. .|. .|. .|. .|. T|. 0.26985|. -1.0087|. 4|. 0.02654|. T|. 1|. .|. .|. .|. .|. .|. .|. .|. .|. A|C 348|348 .|. ENSP00000439889:D348A|. D|X +|+ 2|3 0|0 FAM55B|FAM55B 114083440|114083440 0.028000|0.028000 0.19301|0.19301 0.077000|0.077000 0.20336|0.20336 0.079000|0.079000 0.17450|0.17450 0.553000|0.553000 0.23391|0.23391 0.263000|0.263000 0.21812|0.21812 0.260000|0.260000 0.18958|0.18958 GAC|TGA NOVEL NXPE2-002 PUTATIVE non_canonical_U12|basic protein_coding NA protein_coding OTTHUMT00000399182.3 23 22.110322 KEEP 1 4 148 125 4061 AA 1 1 0 + 7 60 243 0 0 16.03245 114 60 3448 378 ENST00000375475.5 0.057851 1 BUD13 84811 __UNKNOWN__ __UNKNOWN__ 11 116619479 116619479 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:116619479A>G ENST00000375445.3 - 10 1387 BUD13_ENST00000260210.4_Intron NM_001159736.1 NP_001153208.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) NA NA mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398) nucleus (GO:0005634)|RES complex (GO:0070274) poly(A) RNA binding (GO:0044822) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) caaggcgggtagatcacgagg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC006350 CCDS8374.1, CCDS53712.1 11q23.3 2012-06-07 2007-01-12 ENSG00000137656 ENSG00000137656 84811 28199 protein-coding gene gene with protein product functional spliceosome-associated protein 71 BUD13 homolog (yeast) NA 12477932 Standard NM_032725 NM_032725 NA Approved MGC13125, fSAP71, Cwc26 uc001ppn.3 Q9BRD0 OTTHUMG00000045136 ENST00000375445.3:c.1365-188T>C chr11.hg19:g.116619479A>G NA A8K0S0|Q96LS7 hg19 CCDS53712.1 0.02 -0.192579 GGTxGAT COVERED NOVEL BUD13-002 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000104865.1 4 3.308192 KEEP 0 0 0 11 319 AA 0.993072 0.454585 0 - 3 60 90 0 0 6.696171 18 60 482 44 ENST00000375445.3 0.142857 0.457757 SIK3 23387 __UNKNOWN__ __UNKNOWN__ 11 116945376 116945376 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:116945376C>T ENST00000446921.2 - 1 295 SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Intron NM_001281749.1 NP_001268678.1 Q9Y2K2 SIK3_HUMAN SIK family kinase 3 NA NA protein phosphorylation (GO:0006468) cytoplasm (GO:0005737) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 tggtggctcacgcctgtaatc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023216 CCDS8379.1, CCDS60974.1, CCDS8379.2 11q23.3 2010-02-17 ENSG00000160584 ENSG00000160584 23387 29165 protein-coding gene gene with protein product 614776 NA 10231032, 8889548 Standard NM_025164 NM_025164 NA Approved FLJ12240, L19, KIAA0999, QSK uc001ppy.3 Q9Y2K2 OTTHUMG00000066628 ENST00000446921.2:c.273+23482G>A chr11.hg19:g.116945376C>T NA A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50 hg19 0.02 -0.20175 TCAxGCC COVERED NOVEL SIK3-014 KNOWN basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000319396.2 6 2.407873 KEEP 0 0 0 8 283 CC 0.99257 0.4869 0 - 3 60 90 0 0 6.627528 19 60 623 45 ENST00000446921.2 0.136364 0.490544 BACE1 23621 __UNKNOWN__ __UNKNOWN__ 11 117168950 117168950 __UNKNOWN__ Intron SNP G G A rs532129730 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:117168950G>A ENST00000313005.6 - 2 722 BACE1_ENST00000445823.2_Intron|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000513780.1_Intron|BACE1_ENST00000528053.1_Intron NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 NA NA beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508) axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899) breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) cccaggaggcggaggttgcag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190725 CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1 11q23-q24 2011-07-27 2004-04-02 2004-04-02 ENSG00000186318 ENSG00000186318 23621 933 protein-coding gene gene with protein product 604252 beta-site APP-cleaving enzyme BACE NA 10531052 Standard NM_012104 NA Approved uc001pqz.3 P56817 OTTHUMG00000160636 ENST00000313005.6:c.262-1273C>T chr11.hg19:g.117168950G>A NA A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1 hg19 CCDS8383.1 0.02 -0.412204 GGCxGAG COVERED NOVEL BACE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361505.1 4 3.008225 KEEP 1 0 0 10 301 GG 0.992708 0.934874 0 - 4 60 110 0 0 7.26905 36 60 1108 66 ENST00000313005.6 0.1 0.941741 BACE1 23621 __UNKNOWN__ __UNKNOWN__ 11 117169712 117169712 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:117169712A>G ENST00000313005.6 - 2 722 BACE1_ENST00000445823.2_Intron|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000513780.1_Intron|BACE1_ENST00000528053.1_Intron NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 NA NA beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508) axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899) breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) agtagagacgaggtttcacca 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190725 CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1 11q23-q24 2011-07-27 2004-04-02 2004-04-02 ENSG00000186318 ENSG00000186318 23621 933 protein-coding gene gene with protein product 604252 beta-site APP-cleaving enzyme BACE NA 10531052 Standard NM_012104 NA Approved uc001pqz.3 P56817 OTTHUMG00000160636 ENST00000313005.6:c.262-2035T>C chr11.hg19:g.117169712A>G NA A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1 hg19 CCDS8383.1 0.02 1.806781 ACGxGGT COVERED NOVEL BACE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361505.1 4 10.5316 KEEP 2 0 0 35 1118 AA 0.999999 0.976864 0 - 5 60 136 1 0 8.786264 49 60 1444 94 ENST00000313005.6 0.092593 0.976865 BACE1 23621 __UNKNOWN__ __UNKNOWN__ 11 117169723 117169723 __UNKNOWN__ Intron SNP C C T rs539831940 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:117169723C>T ENST00000313005.6 - 2 722 BACE1_ENST00000445823.2_Intron|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000513780.1_Intron|BACE1_ENST00000528053.1_Intron NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 NA NA beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508) axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899) breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) ggtttcaccacgttggccagg 0.547 NA c||| 1 0.000199681 0 0 5008 , , NA 17777 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190725 CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1 11q23-q24 2011-07-27 2004-04-02 2004-04-02 ENSG00000186318 ENSG00000186318 23621 933 protein-coding gene gene with protein product 604252 beta-site APP-cleaving enzyme BACE NA 10531052 Standard NM_012104 NA Approved uc001pqz.3 P56817 OTTHUMG00000160636 ENST00000313005.6:c.262-2046G>A chr11.hg19:g.117169723C>T NA A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1 hg19 CCDS8383.1 0.02 1.269378 CCAxGTT COVERED NOVEL BACE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361505.1 3 12.940715 KEEP 2 0 0 43 1479 CC 1 0.997553 0 - 5 60 134 0 0 7.980051 65 60 2165 120 ENST00000313005.6 0.071429 0.997553 BACE1 23621 __UNKNOWN__ __UNKNOWN__ 11 117169768 117169768 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:117169768T>C ENST00000313005.6 - 2 722 BACE1_ENST00000445823.2_Intron|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000513780.1_Intron|BACE1_ENST00000528053.1_Intron NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 NA NA beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508) axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899) breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) gtgatccacctgcctcggcct 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190725 CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1 11q23-q24 2011-07-27 2004-04-02 2004-04-02 ENSG00000186318 ENSG00000186318 23621 933 protein-coding gene gene with protein product 604252 beta-site APP-cleaving enzyme BACE NA 10531052 Standard NM_012104 NA Approved uc001pqz.3 P56817 OTTHUMG00000160636 ENST00000313005.6:c.262-2091A>G chr11.hg19:g.117169768T>C NA A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1 hg19 CCDS8383.1 0.02 5.004857 ACCxGCC COVERED NOVEL BACE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361505.1 22 16.299706 KEEP 2 2 65 77 2335 TT 1 1 0 - 7 60 227 0 0 13.547595 154 60 4476 315 ENST00000313005.6 0.043478 1 IL10RA 3587 __UNKNOWN__ __UNKNOWN__ 11 117860129 117860129 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:117860129T>G ENST00000227752.3 + 3 308 IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000541785.1_Intron|IL10RA_ENST00000533700.1_Intron NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha NA NA cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CAAGCTCGTTTCCAGTGCCTA 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 111 93 99 NA NA NA 11 NA NA 117860129 2201 4296 6497 SO:0001627 intron_variant U00672 CCDS8388.1 11q23 2014-09-17 ENSG00000110324 ENSG00000110324 3587 Interleukins and interleukin receptors, CD molecules 5964 protein-coding gene gene with protein product 146933 IL10R NA 8120391 Standard NR_026691 NA Approved HIL-10R, CDW210A, CD210a, CD210 uc001prv.3 Q13651 OTTHUMG00000166523 ENST00000227752.3:c.189-28T>G chr11.hg19:g.117860129T>G NA A8K6I0|B0YJ27 hg19 CCDS8388.1 0.02 1.988412 GTTxCCA COVERED NOVEL IL10RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390167.1 1 9.327098 KEEP 0 0 0 31 945 TT 0.999997 0.981953 0 + 7 60 239 0 0 18.080205 49 60 1407 119 ENST00000227752.3 0.125 0.981955 MPZL3 196264 __UNKNOWN__ __UNKNOWN__ 11 118099797 118099797 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:118099797A>G ENST00000278949.4 - 0 1575 Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 NA NA cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633) integral component of membrane (GO:0016021) autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) agccaagatcacaccactgca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095399 CCDS8392.1, CCDS66241.1 11q23.3 2013-01-11 ENSG00000160588 ENSG00000160588 196264 Immunoglobulin superfamily / V-set domain containing 27279 protein-coding gene gene with protein product 611707 NA 17273165 Standard NM_198275 NM_198275 NA Approved uc001psm.3 Q6UWV2 OTTHUMG00000166966 ENST00000278949.4:c.*812T>C chr11.hg19:g.118099797A>G NA A8K025|B4DLD5|B4E2I8 hg19 CCDS8392.1 0.02 -0.210495 ATCxCAC COVERED NOVEL MPZL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392109.1 7 3.310111 KEEP 2 0 0 11 351 AA 0.992708 0.518353 0 - 3 40 98 0 0 7.560913 17 60 506 41 ENST00000278949.4 0.15 0.522161 UBE4A 9354 __UNKNOWN__ __UNKNOWN__ 11 118246354 118246354 __UNKNOWN__ Intron SNP G G A rs532217978 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:118246354G>A ENST00000431736.2 + 9 1543 UBE4A_ENST00000252108.3_Intron ubiquitination factor E4A NA NA autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) gattacaggcgtgagccacca 0.443 NA G||| 2 0.000399361 8e-04 0.0014 5008 , , NA 15230 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50916 CCDS8396.1, CCDS55790.1 11q23.3 2013-01-28 2011-05-19 9354 U-box domain containing 12499 protein-coding gene gene with protein product 603753 ubiquitination factor E4A (homologous to yeast UFD2), ubiquitination factor E4A (UFD2 homolog, yeast) NA 10089879 Standard NM_004788 NM_004788 NA Approved UBOX2, UFD2, KIAA0126, E4 uc001psv.3 Q14139 OTTHUMG00000168100 ENST00000431736.2:c.1471+410G>A chr11.hg19:g.118246354G>A NA hg19 CCDS8396.1 0.02 -0.166624 GGCxTGA COVERED NOVEL UBE4A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000398143.1 6 2.70861 KEEP 0 0 0 9 310 GG 0.99254 0.351306 0 + 4 60 105 0 0 8.381395 13 60 407 37 ENST00000431736.2 0.235294 0.353947 IFT46 56912 __UNKNOWN__ __UNKNOWN__ 11 118416969 118416969 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:118416969G>T ENST00000264021.3 - 10 1091 TMEM25_ENST00000354284.4_3'UTR|IFT46_ENST00000530872.1_Intron|IFT46_ENST00000264020.2_Intron|TMEM25_ENST00000442938.2_3'UTR NM_001168618.1 NP_001162089.1 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512) protein C-terminus binding (GO:0008022) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 taccagcactgtgggaggttg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136934 CCDS8399.1, CCDS53718.1 11q23.3 2014-07-18 2014-07-03 2010-04-22 ENSG00000118096 ENSG00000118096 56912 Intraflagellar transport homologs 26146 protein-coding gene gene with protein product cilia and flagella associated protein 32 chromosome 11 open reading frame 60, intraflagellar transport 46 homolog (Chlamydomonas) C11orf60 NA 10873569, 19253336 Standard NM_020153 NM_020153 NA Approved C11orf2, FLJ21827, CFAP32 uc001pto.2 Q9NQC8 OTTHUMG00000166408 ENST00000264021.3:c.673-401C>A chr11.hg19:g.118416969G>T NA A8K0F6|Q9H6V5 hg19 CCDS53718.1 0.02 4.817349 ACTxTGG COVERED NOVEL IFT46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389627.1 30 45.178908 KEEP 0 1 31 161 5736 GG 1 1 0 - 8 60 222 0 0 12.257419 152 60 5281 470 ENST00000264021.3 0.05 1 IFT46 56912 __UNKNOWN__ __UNKNOWN__ 11 118422357 118422357 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:118422357G>C ENST00000264021.3 - 9 1091 IFT46_ENST00000530872.1_Intron|IFT46_ENST00000264020.2_Intron NM_001168618.1 NP_001162089.1 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512) protein C-terminus binding (GO:0008022) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 ccactgcactgcagcctggga 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136934 CCDS8399.1, CCDS53718.1 11q23.3 2014-07-18 2014-07-03 2010-04-22 ENSG00000118096 ENSG00000118096 56912 Intraflagellar transport homologs 26146 protein-coding gene gene with protein product cilia and flagella associated protein 32 chromosome 11 open reading frame 60, intraflagellar transport 46 homolog (Chlamydomonas) C11orf60 NA 10873569, 19253336 Standard NM_020153 NM_020153 NA Approved C11orf2, FLJ21827, CFAP32 uc001pto.2 Q9NQC8 OTTHUMG00000166408 ENST00000264021.3:c.672+143C>G chr11.hg19:g.118422357G>C NA A8K0F6|Q9H6V5 hg19 CCDS53718.1 0.02 -0.350883 ACTxCAG COVERED NOVEL IFT46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389627.1 2 6.319026 KEEP 0 0 0 21 702 GG 0.999869 0.90895 0 - 3 60 95 0 0 6.609781 29 60 953 67 ENST00000264021.3 0.09375 0.909069 PHLDB1 23187 __UNKNOWN__ __UNKNOWN__ 11 118495592 118495592 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:118495592T>C ENST00000361417.2 + 6 766 PHLDB1_ENST00000356063.5_Intron NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 NA NA breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) tccaaaagtgttgggattaca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8401.1, CCDS44750.1 11q23.3 2013-01-10 ENSG00000019144 ENSG00000019144 23187 Pleckstrin homology (PH) domain containing 23697 protein-coding gene gene with protein product 612834 NA 14532993 Standard NM_015157 NM_015157 NA Approved FLJ00141, LL5a, KIAA0638 uc001pts.3 Q86UU1 OTTHUMG00000166341 ENST00000361417.2:c.356-58T>C chr11.hg19:g.118495592T>C NA B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2 hg19 CCDS8401.1 0.02 1.690524 GTGxTGG COVERED NOVEL PHLDB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389279.1 9 5.880532 KEEP 0 2 61 41 1183 TT 1 0.999862 0 + 6 60 194 0 0 12.792658 81 60 2203 159 ENST00000361417.2 0.068966 0.999862 DDX6 1656 __UNKNOWN__ __UNKNOWN__ 11 118629302 118629302 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:118629302A>G ENST00000526070.2 - 9 1354 DDX6_ENST00000264018.4_Intron|DDX6_ENST00000534980.1_Intron NM_001257191.1 NP_001244120.1 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 NA NA cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ggctggtctcaaactcctgac 0.512 NA T IGH@ B-NHL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 11 11q23.3 1656 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D17532 CCDS44751.1 11q23.3 2012-02-23 2012-02-23 ENSG00000110367 ENSG00000110367 1656 DEAD-boxes 2747 protein-coding gene gene with protein product 600326 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD), DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 HLR2 NA 1579499, 11839790 Standard NM_004397 NM_004397 NA Approved RCK uc001pub.2 P26196 OTTHUMG00000166411 ENST00000526070.2:c.993+180T>C chr11.hg19:g.118629302A>G NA Q5D048 hg19 CCDS44751.1 0.02 -0.394689 CTCxAAC COVERED NOVEL DDX6-002 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000389647.2 4 5.05095 KEEP 1 1 35 29 926 AA 0.999997 0.941739 0 - 3 60 99 0 0 6.577781 41 70 1232 86 ENST00000526070.2 0.068182 0.941741 CBL 867 __UNKNOWN__ __UNKNOWN__ 11 119135452 119135452 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:119135452G>A ENST00000264033.4 + 3 819 NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase NA NA cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) ttggcctcccgtaagtgctgg 0.448 NA T, Mis S, O MLL AML, JMML, MDS Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom, Rec yes 11 11q23.3 867 Cas-Br-M (murine) ecotropic retroviral transforming L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML X57110 CCDS8418.1 11q23.3 2014-09-17 2012-02-23 ENSG00000110395 ENSG00000110395 867 RING-type (C3HC4) zinc fingers 1541 protein-coding gene gene with protein product oncogene CBL2 165360 Cas-Br-M (murine) ecotropic retroviral transforming sequence CBL2 NA 2013228 Standard NM_005188 NM_005188 NA Approved RNF55, c-Cbl uc001pwe.4 P22681 OTTHUMG00000166170 ENST00000264033.4:c.444-6993G>A chr11.hg19:g.119135452G>A NA A3KMP8 hg19 CCDS8418.1 0.02 -0.298234 CCCxTAA COVERED NOVEL CBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388219.4 8 4.815159 KEEP 0 0 0 16 541 GG 0.997832 0.779366 0 + 4 60 113 2 0 8.159213 25 60 826 77 ENST00000264033.4 0.137931 0.78106 CBL 867 __UNKNOWN__ __UNKNOWN__ 11 119144603 119144603 __UNKNOWN__ Nonsense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:119144603C>T ENST00000264033.4 + 4 992 c.616C>T c.(616-618)Cga>Tga p.R206* NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 206 Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.|Sufficient for interaction with EPHB1. NA cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GAAGAGCTTTCGACAGGCTCT 0.468 NA T, Mis S, O MLL AML, JMML, MDS Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom, Rec yes 11 11q23.3 867 Cas-Br-M (murine) ecotropic retroviral transforming L 0 79 74 76 NA NA NA 11 NA NA 119144603 2199 4295 6494 SO:0001587 stop_gained Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML X57110 CCDS8418.1 11q23.3 2014-09-17 2012-02-23 ENSG00000110395 ENSG00000110395 867 RING-type (C3HC4) zinc fingers 1541 protein-coding gene gene with protein product oncogene CBL2 165360 Cas-Br-M (murine) ecotropic retroviral transforming sequence CBL2 NA 2013228 Standard NM_005188 NM_005188 NA Approved RNF55, c-Cbl uc001pwe.4 P22681 OTTHUMG00000166170 ENST00000264033.4:c.616C>T chr11.hg19:g.119144603C>T ENSP00000264033:p.Arg206* NA A3KMP8 hg19 CCDS8418.1 0.02 1.350845 TTTxGAC COVERED . . . . . . . . . . C 40 8.289753 0.98745 . . ENSG00000110395 ENST00000264033 . . . 5.48 4.56 0.56223 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -25.9158 15.2408 0.73468 0.1496:0.8504:0.0:0.0 . . . . X 206 . ENSP00000264033:R206X R + 1 2 CBL 118649813 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 2.552000 0.45828 1.297000 0.44761 0.491000 0.48974 CGA NOVEL CBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388219.4 1 10.533753 KEEP 0 0 0 35 1193 CC 0.999999 0.997896 0 + 5 60 135 0 0 7.991359 68 60 2130 157 ENST00000264033.4 0.068493 0.997898 AP000679.2 0 __UNKNOWN__ __UNKNOWN__ 11 120042302 120042302 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:120042302G>A ENST00000319763.1 + 0 1996 NA NA NA aggctgaggcgggaggatcag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000319763.1:c.*813G>A chr11.hg19:g.120042302G>A NA hg19 0.02 2.781895 GGCxGGA COVERED NOVEL AP000679.2-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000388035.3 11 14.399512 KEEP 0 0 0 48 1584 GG 1 1 0 + 7 60 203 0 0 11.973919 117 60 3727 247 ENST00000319763.1 0.056452 1 TECTA 7007 __UNKNOWN__ __UNKNOWN__ 11 121061936 121061936 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:121061936G>A ENST00000392793.1 + 0 7160 O75443 TECTA_HUMAN tectorin alpha NA NA cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TGACTGGAAGGTTTGACTCCC 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF055136 CCDS8434.1 11q22-q24 2008-02-05 ENSG00000109927 ENSG00000109927 7007 11720 protein-coding gene gene with protein product 602574 DFNA12, DFNA8, DFNB21 NA 9503015, 9590290 Standard NM_005422 NM_005422 NA Approved uc010rzo.2 O75443 OTTHUMG00000149908 ENST00000392793.1:c.*421G>A chr11.hg19:g.121061936G>A NA hg19 CCDS8434.1 0.02 1.485577 AAGxTTT COVERED NOVEL TECTA-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313850.1 5 12.026681 KEEP 0 0 0 40 1389 GG 1 0.996233 0 + 32 60 947 0 0 89.563847 36 60 1190 150 ENST00000392793.1 0.470588 0.996233 CRTAM 56253 __UNKNOWN__ __UNKNOWN__ 11 122742592 122742592 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:122742592T>C ENST00000227348.4 + 0 1714 CRTAM_ENST00000533709.1_3'UTR NM_019604.2 NP_062550.2 cytotoxic and regulatory T cell molecule NA NA breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) cctgtaatcctagcactttgg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF001622 CCDS8437.1 11q24.1 2013-01-11 ENSG00000109943 ENSG00000109943 56253 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing 24313 protein-coding gene gene with protein product class I MHC restricted T cell associated molecule 612597 NA 10811014, 16300832 Standard NM_019604 NM_019604 NA Approved CD355 uc001pyj.3 O95727 OTTHUMG00000166026 ENST00000227348.4:c.*485T>C chr11.hg19:g.122742592T>C NA hg19 CCDS8437.1 0.02 -0.306947 TCCxAGC COVERED NOVEL CRTAM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387507.1 4 2.406323 KEEP 0 0 0 8 241 TT 0.99257 0.812384 0 + 4 60 127 0 1 9.375019 28 60 807 57 ENST00000227348.4 0.125 0.818465 C11orf63 79864 __UNKNOWN__ __UNKNOWN__ 11 122776538 122776538 __UNKNOWN__ Intron SNP A A G rs146037458 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:122776538A>G ENST00000531316.1 + 2 956 C11orf63_ENST00000307257.6_3'UTR|C11orf63_ENST00000227349.2_Intron Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 NA NA axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) tggcgccactacactccagcc 0.448 NA A||| 11 0.00219649 0.0068 0.0029 5008 , , NA 13746 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC068507 CCDS8438.1, CCDS8439.1 11q24.1 2012-05-25 ENSG00000109944 ENSG00000109944 79864 26288 protein-coding gene gene with protein product NA 12477932 Standard NM_024806 NM_024806 NA Approved FLJ23554 uc001pym.4 Q6NUN7 OTTHUMG00000166027 ENST00000531316.1:c.864+1386A>G chr11.hg19:g.122776538A>G NA A8K6G0|Q96GB5|Q9H5D6 hg19 CCDS8438.1 0.02 1.581964 ACTxCAC COVERED NOVEL C11orf63-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387511.1 11 5.022949 KEEP 0 1 32 28 819 AA 0.999997 0.999878 0 + 5 60 173 0 0 11.432067 80 60 2215 187 ENST00000531316.1 0.058824 0.999881 CTD-2216M2.1 0 __UNKNOWN__ __UNKNOWN__ 11 123080262 123080262 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:123080262C>T ENST00000531681.1 + 0 305 NA NA NA acacctgtaaccccagcactt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000531681.1: chr11.hg19:g.123080262C>T NA hg19 0.02 -0.175391 TAAxCCC COVERED NOVEL CTD-2216M2.1-001 KNOWN basic antisense NA antisense OTTHUMT00000387548.1 6 2.407936 KEEP 0 0 0 8 287 CC 0.99257 0.384528 0 + 4 60 106 0 0 8.601435 12 60 402 39 ENST00000531681.1 0.25 0.387407 OR10G9 219870 __UNKNOWN__ __UNKNOWN__ 11 123893801 123893801 __UNKNOWN__ Missense_Mutation SNP A A G rs74791330 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:123893801A>G ENST00000375024.1 + 1 82 c.82A>G c.(82-84)Atc>Gtc p.I28V NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 28 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.I28V(3) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ACTCTTTGGAATCTTCCTGGT 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3 Substitution - Missense(3) lung(1)|stomach(1)|skin(1) 200 185 190 NA NA NA 11 NA NA 123893801 2201 4299 6500 SO:0001583 missense AB065756 CCDS31703.1 11q24.1 2012-08-09 ENSG00000236981 ENSG00000236981 219870 GPCR / Class A : Olfactory receptors 15129 protein-coding gene gene with protein product OR10G10P NA Standard NM_001001953 NM_001001953 NA Approved uc010sad.2 Q8NGN4 OTTHUMG00000165967 ENST00000375024.1:c.82A>G chr11.hg19:g.123893801A>G ENSP00000364164:p.Ile28Val NA hg19 CCDS31703.1 0.02 3.777428 GGAxTCT COVERED . . . . . . . . . . G 0.717 -0.785033 0.02907 . . ENSG00000236981 ENST00000375024 T 0.03035 4.07 3.33 -6.67 0.01783 . 0.824866 0.10366 N 0.683403 T 0.01189 0.0039 N 0.04655 -0.195 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.39035 -0.9633 10 0.02654 T 1 . 4.5432 0.12067 0.1864:0.3395:0.3804:0.0938 . 28 Q8NGN4 O10G9_HUMAN V 28 ENSP00000364164:I28V ENSP00000364164:I28V I + 1 0 OR10G9 123399011 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -4.504000 0.00224 -2.845000 0.00333 -2.883000 0.00097 ATC NOVEL OR10G9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387269.1 4 11.730429 KEEP 18 6 224 117 3564 AA 1 0.999996 0 + 7 49 247 0 0 16.845901 99 60 2872 365 ENST00000375024.1 0.066038 0.999996 OR10G7 390265 __UNKNOWN__ __UNKNOWN__ 11 123909691 123909691 __UNKNOWN__ Silent SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:123909691T>G ENST00000330487.5 - 1 26 c.18A>C c.(16-18)ctA>ctC p.L6L NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 6 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACGCTGTCAGTAGGGTGGCGT 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 95 82 87 NA NA NA 11 NA NA 123909691 2200 4299 6499 SO:0001819 synonymous_variant AB065754 CCDS31705.1 11q24.1 2012-08-09 ENSG00000182634 ENSG00000182634 390265 GPCR / Class A : Olfactory receptors 14842 protein-coding gene gene with protein product NA Standard NM_001004463 NM_001004463 NA Approved uc001pzq.1 Q8NGN6 OTTHUMG00000165969 ENST00000330487.5:c.18A>C chr11.hg19:g.123909691T>G NA Q6IFE8 hg19 CCDS31705.1 0.02 2.939167 CAGxAGG COVERED NOVEL OR10G7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387271.1 4 44.095187 KEEP 21 5 170 206 6192 TT 1 0.999998 0 - 5 25 151 0 0 9.487832 71 60 1981 468 ENST00000330487.5 0.065789 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 124086283 124086283 __UNKNOWN__ IGR SNP G G C rs201013752 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:124086283G>C NA NA OR10D3 (29331 upstream) : OR8G1 (34139 downstream) NA NA NA GGAAAGTGTCGTCTGTGTTTT 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.124086283G>C NA hg19 0.02 1.900533 GTCxTCT COVERED NOVEL 0 3 2.679171 KEEP 0 2 72 34 1169 GG 1 0.995083 0 4 52 145 0 0 9.830361 63 60 2060 155 0.059701 0.995084 HEPACAM 220296 __UNKNOWN__ __UNKNOWN__ 11 124795894 124795894 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:124795894C>T ENST00000298251.4 - 2 491 NM_152722.4 NP_689935.2 hepatic and glial cell adhesion molecule NA NA breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) gtcaggagttcgagaccagcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098396 CCDS8456.1 11q24.2 2013-01-29 2011-02-11 ENSG00000165478 ENSG00000165478 220296 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 26361 protein-coding gene gene with protein product glial cell adhesion molecule 611642 hepatocyte cell adhesion molecule NA 15885354, 15917256 Standard NM_152722 NM_152722 NA Approved FLJ25530, hepaCAM, GLIALCAM uc001qbk.3 Q14CZ8 OTTHUMG00000165938 ENST00000298251.4:c.86-929G>A chr11.hg19:g.124795894C>T NA hg19 CCDS8456.1 0.02 -0.122799 GTTxGAG COVERED NOVEL HEPACAM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387125.1 6 2.708684 KEEP 0 0 0 9 308 CC 0.99254 0.194847 0 - 4 60 114 0 0 9.823394 9 60 290 34 ENST00000298251.4 0.307692 0.196312 SLC37A2 219855 __UNKNOWN__ __UNKNOWN__ 11 124937072 124937072 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:124937072G>A ENST00000308074.4 + 1 91 SLC37A2_ENST00000298280.5_Intron|SLC37A2_ENST00000407458.1_Intron|SLC37A2_ENST00000403796.2_Intron NM_198277.2 NP_938018.1 Q8TED4 SPX2_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 2 NA NA carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) acagggtcttgctatgttgcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(11;373 620 21213 26083 47768) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074100 CCDS31714.1, CCDS44757.1 11q24.2 2013-07-17 2013-07-17 ENSG00000134955 ENSG00000134955 219855 Solute carriers 20644 protein-coding gene gene with protein product solute carrier family 37 (glycerol-3-phosphate transporter), member 2 NA Standard XM_166184 NM_198277 NA Approved FLJ00171 uc010sau.2 Q8TED4 OTTHUMG00000165879 ENST00000308074.4:c.59+3750G>A chr11.hg19:g.124937072G>A NA A8K2P9|Q6P599|Q7Z7P8|Q8TEM2 hg19 CCDS31714.1 0.02 -0.263157 CTTxCTA COVERED NOVEL SLC37A2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386840.1 8 2.407928 KEEP 0 0 0 8 289 GG 0.99257 0.688515 0 + 3 60 92 0 0 6.444982 26 60 879 51 ENST00000308074.4 0.103448 0.693668 CDON 50937 __UNKNOWN__ __UNKNOWN__ 11 125830364 125830364 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:125830364A>G ENST00000392693.3 - 0 4464 CDON_ENST00000531738.1_3'UTR NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated NA NA anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) tccagcctggatgacagcaag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF004841 CCDS8468.1, CCDS58192.1 11q24.2 2013-02-11 2012-12-07 ENSG00000064309 ENSG00000064309 50937 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 17104 protein-coding gene gene with protein product cell adhesion molecule-related/down-regulated by oncogenes 608707 Cdon homolog (mouse) NA 9214393 Standard NM_016952 NM_016952 NA Approved ORCAM, CDO, CDON1 uc009zbw.3 Q4KMG0 OTTHUMG00000165862 ENST00000392693.3:c.*473T>C chr11.hg19:g.125830364A>G NA O14631 hg19 CCDS58192.1 0.02 -0.289413 TGGxTGA COVERED NOVEL CDON-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386749.2 2 5.717134 KEEP 0 0 0 19 599 AA 0.99986 0.76078 0 - 3 60 95 1 2 6.744991 26 60 757 61 ENST00000392693.3 0.103448 0.760887 CDON 50937 __UNKNOWN__ __UNKNOWN__ 11 125874241 125874241 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:125874241A>G ENST00000392693.3 - 10 1979 CDON_ENST00000263577.7_Intron|CDON_ENST00000531738.1_5'UTR NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated NA NA anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) gccctcccagactctgtttcc 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF004841 CCDS8468.1, CCDS58192.1 11q24.2 2013-02-11 2012-12-07 ENSG00000064309 ENSG00000064309 50937 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 17104 protein-coding gene gene with protein product cell adhesion molecule-related/down-regulated by oncogenes 608707 Cdon homolog (mouse) NA 9214393 Standard NM_016952 NM_016952 NA Approved ORCAM, CDO, CDON1 uc009zbw.3 Q4KMG0 OTTHUMG00000165862 ENST00000392693.3:c.1852-270T>C chr11.hg19:g.125874241A>G NA O14631 hg19 CCDS58192.1 0.02 1.953284 CAGxCTC COVERED NOVEL CDON-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386749.2 1 23.165854 KEEP 0 0 0 77 2349 AA 1 0.989542 0 - 22 60 733 0 0 66.675686 38 60 1105 189 ENST00000392693.3 0.366667 0.989542 CDON 50937 __UNKNOWN__ __UNKNOWN__ 11 125888513 125888513 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:125888513T>G ENST00000392693.3 - 5 624 CDON_ENST00000263577.7_Intron NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated NA NA anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) acccaggctgtagtacagtgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF004841 CCDS8468.1, CCDS58192.1 11q24.2 2013-02-11 2012-12-07 ENSG00000064309 ENSG00000064309 50937 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 17104 protein-coding gene gene with protein product cell adhesion molecule-related/down-regulated by oncogenes 608707 Cdon homolog (mouse) NA 9214393 Standard NM_016952 NM_016952 NA Approved ORCAM, CDO, CDON1 uc009zbw.3 Q4KMG0 OTTHUMG00000165862 ENST00000392693.3:c.497-145A>C chr11.hg19:g.125888513T>G NA O14631 hg19 CCDS58192.1 0.02 -0.175307 CTGxAGT COVERED NOVEL CDON-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386749.2 4 3.008605 KEEP 0 0 0 10 299 TT 0.992708 0.384582 0 - 3 60 101 0 0 7.934302 16 60 421 31 ENST00000392693.3 0.157895 0.387407 CDON 50937 __UNKNOWN__ __UNKNOWN__ 11 125906839 125906839 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:125906839G>T ENST00000392693.3 - 2 67 CDON_ENST00000263577.7_Intron NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated NA NA anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) tgcctcagccgcccaaagtgc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF004841 CCDS8468.1, CCDS58192.1 11q24.2 2013-02-11 2012-12-07 ENSG00000064309 ENSG00000064309 50937 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 17104 protein-coding gene gene with protein product cell adhesion molecule-related/down-regulated by oncogenes 608707 Cdon homolog (mouse) NA 9214393 Standard NM_016952 NM_016952 NA Approved ORCAM, CDO, CDON1 uc009zbw.3 Q4KMG0 OTTHUMG00000165862 ENST00000392693.3:c.61-13407C>A chr11.hg19:g.125906839G>T NA O14631 hg19 CCDS58192.1 0.02 -0.19299 GCCxCCC COVERED NOVEL CDON-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386749.2 2 2.407844 KEEP 0 0 0 8 283 GG 0.99257 0.454356 0 - 3 60 98 1 0 7.791505 14 60 472 43 ENST00000392693.3 0.176471 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 125951388 125951388 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:125951388T>C NA NA CDON (18201 upstream) : RP11-673E11.2 (19011 downstream) NA NA NA tggtctcaaattcctggcctc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.125951388T>C NA hg19 0.02 -0.175424 AAAxTCC COVERED NOVEL 0 4 2.407391 KEEP 0 0 0 8 255 TT 0.99257 0.384528 0 4 60 140 0 0 11.768374 14 60 413 35 0.222222 0.387407 KIRREL3 84623 __UNKNOWN__ __UNKNOWN__ 11 126793165 126793165 __UNKNOWN__ Intron SNP C C T rs35888321 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:126793165C>T ENST00000525144.2 - 1 305 KIRREL3_ENST00000533026.2_Intron|KIRREL3_ENST00000529097.2_Intron|RP11-688I9.4_ENST00000530572.1_lincRNA|KIRREL3_ENST00000525704.2_Intron NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) NA NA hemopoiesis (GO:0030097) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) ttcttcttctccttctccttc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058770 CCDS53723.1, CCDS55796.1, CCDS73413.1 11q24 2013-01-29 ENSG00000149571 ENSG00000149571 84623 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 23204 protein-coding gene gene with protein product 607761 NA 12424224, 11347906 Standard NM_032531 NM_032531 NA Approved NEPH2, KIAA1867, KIRRE uc001qea.3 Q8IZU9 OTTHUMG00000165831 ENST00000525144.2:c.55+77185G>A chr11.hg19:g.126793165C>T NA Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0 hg19 CCDS53723.1 0.02 -0.105244 TCTxCTT UNCOVERED NOVEL KIRREL3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386479.2 12 2.407705 KEEP 16 0 0 8 273 CC 0 0 0 - 5 60 141 0 0 12.944147 7 60 228 46 ENST00000525144.2 0.416667 0.139832 ETS1 2113 __UNKNOWN__ __UNKNOWN__ 11 128329994 128329994 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:128329994C>A ENST00000392668.4 - 0 3804 ETS1_ENST00000345075.4_3'UTR|ETS1_ENST00000535549.1_3'UTR NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 NA NA angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) cacacacacacacacacacac 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8475.1, CCDS44767.1, CCDS53724.1 11q23.3 2013-07-09 2013-07-09 ENSG00000134954 ENSG00000134954 2113 3488 protein-coding gene gene with protein product Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1, ets protein 164720 EWSR2 NA 1522903 Standard NM_005238 NM_005238 NA Approved FLJ10768, ETS-1 uc001qej.2 P14921 OTTHUMG00000165799 ENST00000392668.4:c.*2262G>T chr11.hg19:g.128329994C>A NA A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5 hg19 CCDS44767.1 0.02 1.625806 ACAxACA COVERED NOVEL ETS1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000386267.2 7 3.009214 KEEP 0 0 0 10 327 CC 0.992708 0.963741 0 - 7 60 170 0 1 11.871631 39 60 1278 74 ENST00000392668.4 0.152174 0.97082 KCNJ5 3762 __UNKNOWN__ __UNKNOWN__ 11 128789678 128789678 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:128789678T>C ENST00000529694.1 + 0 4688 NM_000890.3 NP_000881.3 P48544 KCNJ5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 NA NA potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) G-protein activated inward rectifier potassium channel activity (GO:0015467) NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glyburide(DB01016) attctcatgcttcagcctcct 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D50134 CCDS8479.1 11q24 2014-09-17 ENSG00000120457 3762 Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying 6266 protein-coding gene gene with protein product 600734 NA 16382105 Standard NM_000890 NM_000890 NA Approved Kir3.4, CIR, KATP1, GIRK4, LQT13 uc001qet.3 P48544 ENST00000529694.1:c.*3052T>C chr11.hg19:g.128789678T>C NA B2R744|Q6DK13|Q6DK14|Q92807 hg19 CCDS8479.1 0.02 -0.280661 TGCxTCA COVERED NOVEL KCNJ5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386238.1 6 2.707533 KEEP 0 0 0 9 270 TT 0.99254 0.734154 0 + 5 60 164 0 0 13.081344 23 60 675 48 ENST00000529694.1 0.178571 0.739671 PRDM10 56980 __UNKNOWN__ __UNKNOWN__ 11 129870131 129870131 __UNKNOWN__ Intron SNP C C G rs147342906 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:129870131C>G ENST00000360871.3 - 1 114 PRDM10_ENST00000528746.1_Intron|PRDM10_ENST00000358825.5_Intron NM_199437.1 NP_955469.1 Q9NQV6 PRD10_HUMAN PR domain containing 10 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) tagagacaggctttcaccatg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF275817 CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1 11q24.3 2013-01-08 ENSG00000170325 ENSG00000170325 56980 Zinc fingers, C2H2-type 13995 protein-coding gene gene with protein product PRDM zinc finger transcription factor, PR-domain family member 7, tristanin NA 12175877 Standard NM_199437 NM_020228 NA Approved KIAA1231, PFM7, MGC131802 uc001qfm.3 Q9NQV6 OTTHUMG00000165762 ENST00000360871.3:c.117+2485G>C chr11.hg19:g.129870131C>G NA B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9 hg19 CCDS8484.1 0.02 -0.175441 AGGxTTT COVERED NOVEL PRDM10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386076.1 4 2.407755 KEEP 0 0 0 8 273 CC 0.99257 0.384528 0 - 3 60 98 0 0 7.560796 17 60 563 32 ENST00000360871.3 0.15 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 131015183 131015183 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:131015183T>C NA NA AP002806.1 (33273 upstream) : AP002856.4 (41733 downstream) NA NA NA tgcagtggtgtaatcttggct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.131015183T>C NA hg19 0.02 -0.14908 GTGxAAT COVERED NOVEL 0 5 2.40707 KEEP 1 0 0 8 242 TT 0.99257 0.289832 0 3 60 104 0 0 8.479062 13 60 360 39 0.1875 0.292001 NCAPD3 23310 __UNKNOWN__ __UNKNOWN__ 11 134074699 134074699 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr11:134074699C>G ENST00000534548.2 - 9 1154 NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 NA NA mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654) methylated histone binding (GO:0035064) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CACTCATTCCCAAGAACAAAT 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK124878 CCDS31723.1 11q25 2008-02-04 ENSG00000151503 ENSG00000151503 23310 28952 protein-coding gene gene with protein product 609276 NA 7584044, 8619474, 14532007 Standard NM_015261 NM_015261 NA Approved hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6 uc001qhd.1 P42695 OTTHUMG00000167172 ENST00000534548.2:c.1089+94G>C chr11.hg19:g.134074699C>G NA A6NFS2|Q4KMQ9 hg19 CCDS31723.1 0.02 -0.385955 TCCxAAG COVERED NOVEL NCAPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393575.2 3 5.417203 KEEP 0 0 0 18 633 CC 0.999859 0.918042 0 - 19 60 591 0 0 55.344728 24 60 780 78 ENST00000534548.2 0.44186 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 91051 91051 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:91051T>C NA NA AC215219.1 (17729 upstream) : AC026369.1 (56000 downstream) NA NA NA CAGCACTGTGTGGAGACCAGC 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.91051T>C NA hg19 0.02 -0.24514 GTGxGGA UNCOVERED NOVEL 0 0 3.595482 KEEP 33 0 0 12 364 TT 0 0 0 3 22 97 0 0 6.995342 25 40 714 79 0.107143 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 92260 92260 __UNKNOWN__ IGR SNP G G C rs371408346 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:92260G>C NA NA AC215219.1 (18938 upstream) : AC026369.1 (54791 downstream) NA NA NA AGCAATGGCAGAACCAAAGGT 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.92260G>C NA hg19 0.02 1.792106 GCAxAAC COVERED NOVEL 0 1 6.608008 KEEP 5 0 0 22 753 GG 0.999869 0.995556 0 13 60 421 0 0 33.896825 55 60 1834 106 0.191176 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 161838 161838 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:161838A>C NA NA FAM138D (12488 upstream) : IQSEC3 (14092 downstream) NA NA NA agatcgagacaatcctggcca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.161838A>C NA hg19 0.02 -0.21044 GACxATC COVERED NOVEL 0 7 3.008594 KEEP 2 0 0 10 297 AA 0.99254 0.518266 0 3 60 101 0 0 7.792659 18 60 486 45 0.142857 0.522161 ERC1 23085 __UNKNOWN__ __UNKNOWN__ 12 1254442 1254442 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:1254442C>G ENST00000536573.2 + 6 668 ERC1_ENST00000360905.4_Intron|ERC1_ENST00000355446.5_Intron|ERC1_ENST00000589028.1_Intron|ERC1_ENST00000397203.2_Intron|ERC1_ENST00000546231.2_Intron|ERC1_ENST00000543086.3_Intron Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 NA NA I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734) leucine zipper domain binding (GO:0043522) NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ctcggcctcccaaagtgctgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB015617 CCDS8508.1, CCDS53732.1 12p13.3 2008-02-05 2006-08-14 2006-08-14 ENSG00000082805 ENSG00000082805 23085 17072 protein-coding gene gene with protein product 607127 RAB6 interacting protein 2 RAB6IP2 NA 10697956, 11929610 Standard NM_015064 NM_178040 NA Approved ELKS, KIAA1081, CAST2, MGC12974 uc001qjb.2 Q8IUD2 OTTHUMG00000130138 ENST00000536573.2:c.668+3489C>G chr12.hg19:g.1254442C>G NA A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1 hg19 0.02 -0.148935 TCCxAAA UNCOVERED NOVEL ERC1-003 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000397934.4 5 2.407848 KEEP 1 0 0 8 282 CC 0 0 0 + 4 27 134 0 0 11.534394 11 60 351 34 ENST00000536573.2 0.266667 0.292001 WNT5B 81029 __UNKNOWN__ __UNKNOWN__ 12 1710353 1710353 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:1710353A>G ENST00000537031.1 + 1 185 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B NA NA cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060) cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109)|receptor binding (GO:0005102) skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) cttgagcccaagagttcgaga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB060966 CCDS8510.1 12p13.3 2008-07-07 ENSG00000111186 ENSG00000111186 81029 Wingless-type MMTV integration sites 16265 protein-coding gene gene with protein product 606361 NA 11445850 Standard NM_030775 NA Approved uc001qjk.3 Q9H1J7 OTTHUMG00000090375 ENST00000537031.1:c.-58+26346A>G chr12.hg19:g.1710353A>G NA A8K315|D3DUP9|Q96S49|Q9BV04 hg19 CCDS8510.1 0.02 -0.298207 CCAxGAG COVERED NOVEL WNT5B-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397938.1 8 4.81486 KEEP 0 0 0 16 517 AA 0.997832 0.779366 0 + 3 60 93 0 0 6.369939 30 60 905 68 ENST00000537031.1 0.090909 0.78106 RP5-1096D14.6 0 __UNKNOWN__ __UNKNOWN__ 12 2120063 2120063 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:2120063T>C ENST00000354425.4 + 0 134 NA NA NA gcctgtaatctcagcactttg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000354425.4: chr12.hg19:g.2120063T>C NA hg19 0.02 -0.114025 ATCxCAG COVERED NOVEL RP5-1096D14.6-001 KNOWN basic antisense NA antisense OTTHUMT00000399352.1 2 2.698477 KEEP 0 0 0 9 265 TT 0.99254 0.194847 0 + 3 60 101 0 0 8.732547 8 60 238 30 ENST00000354425.4 0.272727 0.196312 CACNA1C 775 __UNKNOWN__ __UNKNOWN__ 12 2189178 2189178 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:2189178A>G ENST00000347598.4 + 1 49 CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399591.1_Intron NM_001129827.1|NM_199460.2 NP_001123299.1|NP_955630.2 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit NA NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018) alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) tgtaatcccaacactttggga 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF070589 CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1 12p13.3 2014-09-17 ENSG00000151067 ENSG00000151067 775 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1390 protein-coding gene gene with protein product 114205 CCHL1A1, CACNL1A1 NA 1650913, 16382099 Standard NM_000719 NM_001129832 NA Approved Cav1.2, CACH2, CACN2, TS, LQT8 uc001qjy.3 Q13936 OTTHUMG00000150243 ENST00000347598.4:c.49+26401A>G chr12.hg19:g.2189178A>G NA B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875 hg19 CCDS44788.1 0.02 -0.184202 CCAxCAC COVERED NOVEL CACNA1C-017 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317035.1 8 2.708477 KEEP 3 0 0 9 295 AA 0.99254 0.420319 0 + 5 60 165 0 0 14.130497 14 60 432 51 ENST00000347598.4 0.263158 0.423478 CACNA1C 775 __UNKNOWN__ __UNKNOWN__ 12 2189215 2189215 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:2189215C>T ENST00000347598.4 + 1 49 CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399591.1_Intron NM_001129827.1|NM_199460.2 NP_001123299.1|NP_955630.2 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit NA NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018) alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) tcacttgaggccaggagttca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF070589 CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1 12p13.3 2014-09-17 ENSG00000151067 ENSG00000151067 775 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1390 protein-coding gene gene with protein product 114205 CCHL1A1, CACNL1A1 NA 1650913, 16382099 Standard NM_000719 NM_001129832 NA Approved Cav1.2, CACH2, CACN2, TS, LQT8 uc001qjy.3 Q13936 OTTHUMG00000150243 ENST00000347598.4:c.49+26438C>T chr12.hg19:g.2189215C>T NA B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875 hg19 CCDS44788.1 0.02 -0.184214 AGGxCAG COVERED NOVEL CACNA1C-017 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317035.1 8 2.407792 KEEP 2 0 0 8 282 CC 0.99257 0.420331 0 + 3 60 88 1 0 6.492814 18 60 612 43 ENST00000347598.4 0.142857 0.423478 RHNO1 83695 __UNKNOWN__ __UNKNOWN__ 12 2997732 2997732 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:2997732T>C ENST00000461997.2 + 0 950 RHNO1_ENST00000489288.2_3'UTR|RHNO1_ENST00000464682.2_3'UTR NM_001252500.2 NP_001239429.1 Q9BSD3 RHNO1_HUMAN RAD9-HUS1-RAD1 interacting nuclear orphan 1 NA NA cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725) chromosome (GO:0005694)|nucleus (GO:0005634) NA attgctctgttgcccaggctg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK021945 CCDS8518.1, CCDS58199.1 12p13.33 2012-08-23 2012-08-23 2012-08-23 ENSG00000171792 ENSG00000171792 83695 28206 protein-coding gene gene with protein product Rad9, Rad1, Hus1 interacting nuclear orphan 614085 chromosome 12 open reading frame 32 C12orf32 NA 20811708, 21659603 Standard NM_031465 NM_001252499 NA Approved HKMT1188, MGC13204, RHINO uc031qfq.1 Q9BSD3 OTTHUMG00000158557 ENST00000461997.2:c.*107T>C chr12.hg19:g.2997732T>C NA B7Z989 hg19 CCDS58199.1 0.02 1.657557 TGTxGCC COVERED NOVEL RHNO1-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000351288.2 9 12.635169 KEEP 0 0 0 42 1282 TT 1 0.997553 0 + 5 60 163 0 1 11.03502 60 60 1784 159 ENST00000461997.2 0.076923 0.997553 TSPAN9 10867 __UNKNOWN__ __UNKNOWN__ 12 3283337 3283337 __UNKNOWN__ Intron SNP G G A rs553808829 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:3283337G>A ENST00000011898.5 + 3 144 TSPAN9_ENST00000537971.1_Intron NM_006675.4 NP_006666.1 O75954 TSN9_HUMAN tetraspanin 9 NA NA focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197) endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) gagctcaagcgatcctcctgc 0.493 NA G||| 1 0.000199681 0 0 5008 , , NA 20908 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF089749 CCDS8520.1 12p13.33-p13.32 2013-02-14 ENSG00000011105 ENSG00000011105 10867 Tetraspanins 21640 protein-coding gene gene with protein product 613137 NA 10719184, 11739647 Standard NM_006675 NM_006675 NA Approved NET-5 uc021qtd.1 O75954 OTTHUMG00000150333 ENST00000011898.5:c.-17-27006G>A chr12.hg19:g.3283337G>A NA D3DUQ7|Q53FV2|Q6FGJ8 hg19 CCDS8520.1 0.02 -0.184188 AGCxATC COVERED NOVEL TSPAN9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317606.2 5 2.708599 KEEP 0 0 0 9 298 GG 0.99254 0.420319 0 + 3 60 88 0 0 6.561607 17 60 519 39 ENST00000011898.5 0.15 0.423478 TNFRSF1A 7132 __UNKNOWN__ __UNKNOWN__ 12 6440913 6440913 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6440913G>C ENST00000162749.2 - 6 851 TNFRSF1A_ENST00000366159.4_3'UTR|TNFRSF1A_ENST00000540022.1_Intron NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032) axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) tumor necrosis factor-activated receptor activity (GO:0005031) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 gtggctcacggctgtaatccc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M75866 CCDS8542.1 12p13.2 2014-09-17 ENSG00000067182 ENSG00000067182 7132 Tumor necrosis factor receptor superfamily, CD molecules 11916 protein-coding gene gene with protein product 191190 TNFR1 NA 1655358, 2158863 Standard NM_001065 NM_001065 NA Approved TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55 uc001qnu.3 P19438 OTTHUMG00000168267 ENST00000162749.2:c.552-821C>G chr12.hg19:g.6440913G>C NA A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4 hg19 CCDS8542.1 0.02 -0.429854 ACGxCTG COVERED NOVEL TNFRSF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399038.1 4 7.489416 KEEP 0 0 0 25 850 GG 0.999931 0.959793 0 - 3 60 99 0 0 6.48879 44 60 1476 87 ENST00000162749.2 0.06383 0.959859 TAPBPL 55080 __UNKNOWN__ __UNKNOWN__ 12 6566062 6566062 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6566062A>G ENST00000544021.1 + 3 511 TAPBPL_ENST00000266556.7_Intron|TAPBPL_ENST00000545700.1_Intron Q9BX59 TPSNR_HUMAN TAP binding protein-like NA NA negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein complex binding (GO:0032403) endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 caggtgatccacccacctcgg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001005 CCDS8546.1 12p13.31 2013-01-11 55080 Immunoglobulin superfamily / C1-set domain containing 30683 protein-coding gene gene with protein product 607081 NA 11920573 Standard NM_018009 NM_018009 NA Approved TAPBP-R, FLJ10143, TAPBPR uc001qog.4 Q9BX59 ENST00000544021.1:c.335-510A>G chr12.hg19:g.6566062A>G NA Q9NWB8 hg19 0.02 1.628305 TCCxCCC COVERED NOVEL TAPBPL-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399262.1 13 6.920141 KEEP 1 0 0 23 712 AA 0.999892 0.999618 0 + 5 60 160 0 0 10.252129 76 60 2185 153 ENST00000544021.1 0.061728 0.999726 IFFO1 25900 __UNKNOWN__ __UNKNOWN__ 12 6648444 6648444 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6648444T>C ENST00000465801.1 - 0 2532 IFFO1_ENST00000436152.2_3'UTR Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 NA NA intermediate filament (GO:0005882) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 atggtgaaactccgtctctac 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF124432 CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1 12p13.31 2013-01-16 2008-09-11 2008-09-11 ENSG00000010295 ENSG00000010295 25900 Intermediate filament family orphans 24970 protein-coding gene gene with protein product 610495 intermediate filament family orphan IFFO NA 8771189, 3052284 Standard NM_080730 NM_001193457 NA Approved HOM-TES-103 uc010sfe.2 Q0D2I5 OTTHUMG00000141264 ENST00000465801.1:c.*1205A>G chr12.hg19:g.6648444T>C NA Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46 hg19 0.02 1.692762 AACxCCG COVERED NOVEL IFFO1-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000280423.2 12 4.946405 KEEP 0 1 33 28 862 TT 0.999997 0.99623 0 - 5 60 162 0 1 10.936181 60 60 1766 133 ENST00000465801.1 0.076923 0.996233 CHD4 1108 __UNKNOWN__ __UNKNOWN__ 12 6690135 6690135 __UNKNOWN__ Intron SNP A A T rs535331959 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6690135A>T ENST00000544484.1 - 32 5131 CHD4_ENST00000544040.1_Intron|CHD4_ENST00000309577.6_Intron|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Intron Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 NA NA ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270) central_nervous_system(2) 2 atcgcgccacagcactccagc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(32;586 792 4568 16848 45314) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X86691 CCDS8552.1 12p13 2013-01-28 ENSG00000111642 1108 Zinc fingers, PHD-type 1919 protein-coding gene gene with protein product 603277 NA 7575689, 8843877 Standard NM_001273 XM_006718958 NA Approved Mi-2b, Mi2-BETA uc001qpo.3 Q14839 ENST00000544484.1:c.4984+74T>A chr12.hg19:g.6690135A>T NA Q8IXZ5 hg19 0.02 1.473642 CACxGCA COVERED NOVEL CHD4-013 KNOWN basic protein_coding NA protein_coding OTTHUMT00000402631.1 2 7.823693 KEEP 0 0 0 26 820 AA 0.999957 0.986111 0 - 4 60 122 0 0 7.955235 49 60 1468 108 ENST00000544484.1 0.075472 0.986153 CHD4 1108 __UNKNOWN__ __UNKNOWN__ 12 6705071 6705071 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6705071T>C ENST00000544484.1 - 13 2162 CHD4_ENST00000544040.1_Intron|CHD4_ENST00000309577.6_Intron|CHD4_ENST00000357008.2_Intron Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 NA NA ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270) central_nervous_system(2) 2 ttgcagtgagtcaagatcacg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(32;586 792 4568 16848 45314) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X86691 CCDS8552.1 12p13 2013-01-28 ENSG00000111642 1108 Zinc fingers, PHD-type 1919 protein-coding gene gene with protein product 603277 NA 7575689, 8843877 Standard NM_001273 XM_006718958 NA Approved Mi-2b, Mi2-BETA uc001qpo.3 Q14839 ENST00000544484.1:c.2015+100A>G chr12.hg19:g.6705071T>C NA Q8IXZ5 hg19 0.02 1.892181 GAGxCAA COVERED NOVEL CHD4-013 KNOWN basic protein_coding NA protein_coding OTTHUMT00000402631.1 3 6.251601 KEEP 2 1 38 34 991 TT 0.999999 0.995685 0 - 4 60 129 0 0 8.373224 58 60 1525 110 ENST00000544484.1 0.064516 0.995687 CHD4 1108 __UNKNOWN__ __UNKNOWN__ 12 6705138 6705138 __UNKNOWN__ Intron SNP G G A rs200155885 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6705138G>A ENST00000544484.1 - 13 2162 CHD4_ENST00000544040.1_Intron|CHD4_ENST00000309577.6_Intron|CHD4_ENST00000357008.2_Intron Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 NA NA ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270) central_nervous_system(2) 2 aaaaaaaaaagaaacaaCTCT 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(32;586 792 4568 16848 45314) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X86691 CCDS8552.1 12p13 2013-01-28 ENSG00000111642 1108 Zinc fingers, PHD-type 1919 protein-coding gene gene with protein product 603277 NA 7575689, 8843877 Standard NM_001273 XM_006718958 NA Approved Mi-2b, Mi2-BETA uc001qpo.3 Q14839 ENST00000544484.1:c.2015+33C>T chr12.hg19:g.6705138G>A NA Q8IXZ5 hg19 0.02 4.506461 AAAxAAA COVERED NOVEL CHD4-013 KNOWN basic protein_coding NA protein_coding OTTHUMT00000402631.1 88 9.530722 KEEP 0 11 190 101 3088 GG 1 1 0 - 10 60 229 2 0 11.158586 176 70 5544 486 ENST00000544484.1 0.053763 1 ACRBP 84519 __UNKNOWN__ __UNKNOWN__ 12 6752853 6752853 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6752853A>C ENST00000229243.2 - 6 1038 ACRBP_ENST00000414226.2_Intron NM_032489.2 NP_115878.2 acrosin binding protein NA NA NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 AGAAGACAGCACTGAGGGTGG 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 55 57 56 NA NA NA 12 NA NA 6752853 2203 4300 6503 SO:0001627 intron_variant AB051833 CCDS8554.1 12p13.31 2009-03-12 ENSG00000111644 ENSG00000111644 84519 17195 protein-coding gene gene with protein product proacrosin binding protein sp32, cancer/testis antigen 23 608352 NA 11248070 Standard NM_032489 NM_032489 NA Approved SP32, OY-TES-1, CT23 uc001qpu.1 Q8NEB7 OTTHUMG00000168715 ENST00000229243.2:c.945-16T>G chr12.hg19:g.6752853A>C NA hg19 CCDS8554.1 0.02 4.003194 AGCxCTG COVERED NOVEL ACRBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400703.1 3 26.756952 KEEP 0 0 0 89 2485 AA 1 0.999994 0 - 38 60 1288 0 0 116.146956 72 60 1984 234 ENST00000229243.2 0.345455 0.999994 ING4 51147 __UNKNOWN__ __UNKNOWN__ 12 6766063 6766063 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6766063C>T ENST00000396807.4 - 2 76 ING4_ENST00000444704.2_Intron|ING4_ENST00000446105.2_Intron|ING4_ENST00000341550.4_Intron|ING4_ENST00000412586.2_Intron|ING4_ENST00000423703.2_Intron NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3 NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2 Q9UNL4 ING4_HUMAN inhibitor of growth family, member 4 NA NA apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473) histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 10 ctcacgcctgcaatcccagca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF063594 CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1 12p13.32 2013-01-28 ENSG00000111653 ENSG00000111653 51147 Zinc fingers, PHD-type 19423 protein-coding gene gene with protein product 608524 NA 12750254 Standard NM_198287 NM_001127582 NA Approved p29ING4, my036 uc001qpw.4 Q9UNL4 OTTHUMG00000141274 ENST00000396807.4:c.38-99G>A chr12.hg19:g.6766063C>T NA A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0 hg19 CCDS44813.1 0.02 1.215328 CTGxAAT COVERED NOVEL ING4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000280467.2 5 6.440957 KEEP 0 1 33 33 1170 CC 0.999998 0.99442 0 - 6 60 165 0 0 10.861149 55 60 1833 123 ENST00000396807.4 0.098361 0.994422 MLF2 8079 __UNKNOWN__ __UNKNOWN__ 12 6860570 6860570 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6860570T>G ENST00000203630.5 - 4 861 MLF2_ENST00000435120.1_Intron|MLF2_ENST00000542154.1_Intron|MLF2_ENST00000539187.1_Intron Q15773 MLF2_HUMAN myeloid leukemia factor 2 NA NA defense response (GO:0006952) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) kidney(2)|large_intestine(3)|lung(4) 9 tgttggccagtctggtctcga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U57342 CCDS8559.1 12p13.31 2014-09-11 ENSG00000089693 ENSG00000089693 8079 7126 protein-coding gene gene with protein product 601401 NA 8661158 Standard NM_005439 NA Approved NTN4 uc010sfi.2 Q15773 OTTHUMG00000168717 ENST00000203630.5:c.216+236A>C chr12.hg19:g.6860570T>G NA hg19 CCDS8559.1 0.02 -0.157413 CAGxCTG COVERED NOVEL MLF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400733.2 7 2.407305 KEEP 0 0 0 8 253 TT 0.99257 0.320408 0 - 4 60 126 0 0 10.374915 14 60 372 34 ENST00000203630.5 0.222222 0.322807 GNB3 2784 __UNKNOWN__ __UNKNOWN__ 12 6955873 6955873 __UNKNOWN__ Intron SNP C C A rs373734079|rs199825311 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:6955873C>A ENST00000229264.3 + 11 1321 GNB3_ENST00000435982.2_Intron|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 acccacacacccacacataca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8564.1, CCDS73427.1 12p13 2013-01-10 ENSG00000111664 ENSG00000111664 2784 WD repeat domain containing 4400 protein-coding gene gene with protein product 139130 NA 11770079, 16600389 Standard NM_002075 XM_005253680 NA Approved uc001qrd.3 P16520 OTTHUMG00000168517 ENST00000229264.3:c.917-83C>A chr12.hg19:g.6955873C>A NA Q96B71|Q9BQC0 hg19 CCDS8564.1 0.02 1.184198 CACxCAC COVERED NOVEL GNB3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400006.1 26 14.578809 KEEP 2 1 33 60 2025 CC 1 0.999881 0 + 11 70 309 0 0 22.184295 70 70 2303 203 ENST00000229264.3 0.135802 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 7052472 7052472 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:7052472C>A NA NA ATN1 (988 upstream) : C12orf57 (123 downstream) NA NA NA gtctcaaaaacaaaaaacaaa 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.7052472C>A NA hg19 0.02 1.023921 AAAxAAA COVERED NOVEL 0 17 15.349575 KEEP 0 0 0 51 1812 CC 1 0.999956 0 5 60 140 2 0 7.925804 89 60 2984 214 0.053191 0.999956 EMG1 10436 __UNKNOWN__ __UNKNOWN__ 12 7082994 7082994 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:7082994A>G ENST00000546220.1 + 2 198 EMG1_ENST00000261406.6_Intron EMG1 N1-specific pseudouridine methyltransferase NA NA NA gtgagccaccacgcccggccT 0.527 NA G||| 1 0.000199681 0 0 5008 , , NA -128 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U72514 CCDS73430.1 12p13 2013-05-22 2013-05-22 ENSG00000126749 10436 16912 protein-coding gene gene with protein product 611531 EMG1 nucleolar protein homolog (S. cerevisiae) NA 9074930, 11935223, 19463982 Standard NM_006331 NM_006331 NA Approved C2F, NEP1, Grcc2f uc001qsh.4 Q92979 ENST00000546220.1:c.199-507A>G chr12.hg19:g.7082994A>G NA hg19 0.02 -0.254162 ACCxCGC COVERED NOVEL EMG1-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000401804.2 4 2.407044 KEEP 2 0 0 8 247 AA 0.99257 0.663556 0 + 3 60 110 0 0 8.395359 23 60 634 56 ENST00000546220.1 0.115385 0.668523 C1S 716 __UNKNOWN__ __UNKNOWN__ 12 7169320 7169320 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:7169320C>T ENST00000402681.3 + 2 359 C1S_ENST00000406697.1_Intron|C1S_ENST00000360817.5_Intron|C1S_ENST00000328916.3_Intron P09871 C1S_HUMAN complement component 1, s subcomponent NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) acacctgtaaccccagcactt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(156;750 1943 12971 24779 31015) NA 0 65 67 67 NA NA NA 12 NA NA 7169320 692 1591 2283 SO:0001627 intron_variant CCDS31735.1 12p13 2014-09-17 ENSG00000182326 ENSG00000182326 716 3.4.21.42 Complement system 1247 protein-coding gene gene with protein product 120580 NA Standard NM_001734 NM_201442 NA Approved uc001qsl.3 P09871 OTTHUMG00000150305 ENST00000402681.3:c.-289+99C>T chr12.hg19:g.7169320C>T NA D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14 hg19 0.02 3.101633 TAAxCCC COVERED NOVEL C1S-017 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000401825.1 7 29.260953 KEEP 0 2 68 121 4116 CC 1 0.999999 0 + 6 60 178 0 0 10.453784 109 60 3617 311 ENST00000402681.3 0.052174 0.999999 CLSTN3 9746 __UNKNOWN__ __UNKNOWN__ 12 7295356 7295356 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:7295356C>T ENST00000266546.6 + 11 1990 CLSTN3_ENST00000537408.1_Intron NM_014718.3 NP_055533.2 Q9BQT9 CSTN3_HUMAN calsyntenin 3 NA NA homophilic cell adhesion (GO:0007156) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211) calcium ion binding (GO:0005509) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 tcctttttttctttctcaact 0.448 NA OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018269 CCDS8575.1 12p13.31 2011-07-01 ENSG00000139182 ENSG00000139182 9746 Cadherins / Cadherin-related 18371 protein-coding gene gene with protein product cadherin-related family member 14 611324 NA 12498782 Standard NM_014718 NM_014718 NA Approved CSTN3, KIAA0726, CDHR14 uc001qsr.3 Q9BQT9 OTTHUMG00000168167 ENST00000266546.6:c.1541-109C>T chr12.hg19:g.7295356C>T 640 D3DUT6|O94831|Q2T9J5|Q5UE57 hg19 CCDS8575.1 0.02 0.765169 TTTxTTT COVERED NOVEL CLSTN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398560.2 5 3.204436 KEEP 0 3 57 31 1001 CC 0.999998 0.990962 0 + 7 60 135 0 0 7.612782 54 60 1694 124 ENST00000266546.6 0.114754 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 7783827 7783827 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:7783827A>G NA NA CD163 (127338 upstream) : APOBEC1 (18168 downstream) NA NA NA cacccgcctcagcctcccaaa 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.7783827A>G NA hg19 0.02 -0.157887 CTCxGCC UNCOVERED NOVEL 0 7 2.40728 KEEP 6 0 0 8 257 AA 0 0 0 3 41 100 0 0 7.910026 15 60 460 46 0.166667 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 8384525 8384525 __UNKNOWN__ IGR SNP G G T rs370551642 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:8384525G>T NA NA AC092111.1 (2092 upstream) : FAM86FP (2412 downstream) NA NA NA AAGCTGTGGTGGGCCCTGATT 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.8384525G>T NA hg19 0.02 -0.403472 GGTxGGC COVERED NOVEL 0 0 3.445578 KEEP 1 1 33 23 783 GG 0.999909 0.934407 0 7 27 210 0 0 15.896402 38 60 1233 101 0.155556 0.934492 RIMKLB 57494 __UNKNOWN__ __UNKNOWN__ 12 8871263 8871263 __UNKNOWN__ Intron SNP A A G rs140541110|rs34808160 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:8871263A>G ENST00000538135.1 + 2 1000 RIMKLB_ENST00000357529.3_Intron|RIMKLB_ENST00000535829.1_Intron|RIMKLB_ENST00000299673.5_Intron Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family member B NA NA cellular protein modification process (GO:0006464) cytoplasm (GO:0005737) ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590) central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 ATATATATATATAtgtgtgtg 0.413 NA a||| 1249 0.249401 0.3601 0.2248 5008 , , NA -128 0.2044 NA 0.1988 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033064 CCDS41748.1 12p13.31 2011-09-21 2008-10-13 2008-10-13 ENSG00000166532 ENSG00000166532 57494 6.3.2.N6 29228 protein-coding gene gene with protein product N-acetylaspartyl-glutamate synthetase 614054 family with sequence similarity 80, member B FAM80B NA 10574462, 20643647 Standard NM_020734 XM_006719116 NA Approved KIAA1238, NAAGS, NAAGS-I uc001qux.2 Q9ULI2 ENST00000538135.1:c.175+4626A>G chr12.hg19:g.8871263A>G NA B7Z834|D3DUV2|Q8N4P4|Q8WTW6 hg19 CCDS41748.1 0.02 -0.131466 TATxTAT COVERED NOVEL RIMKLB-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398874.1 5 2.406844 KEEP 1 0 0 8 237 AA 0.99257 0.22747 0 + 3 60 81 0 0 6.483588 10 60 278 32 ENST00000538135.1 0.230769 0.229173 A2ML1 144568 __UNKNOWN__ __UNKNOWN__ 12 9021034 9021034 __UNKNOWN__ Intron SNP C C G rs4883191 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:9021034C>G ENST00000299698.7 + 31 4241 A2ML1_ENST00000539547.1_Intron NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 alpha-2-macroglobulin-like 1 NA NA NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 gtgtgtgtgtctgtgtatgtg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057908 CCDS8596.2, CCDS73439.1 12p13 2010-12-14 2005-09-01 2005-09-01 ENSG00000166535 ENSG00000166535 144568 23336 protein-coding gene gene with protein product 610627 C3 and PZP-like, alpha-2-macroglobulin domain containing 9 CPAMD9 NA 16298998 Standard NM_144670 NM_144670 NA Approved FLJ25179 uc001quz.5 A8K2U0 OTTHUMG00000128499 ENST00000299698.7:c.4061+81C>G chr12.hg19:g.9021034C>G NA hg19 CCDS8596.2 0.02 -0.377198 TGTxTGT COVERED NOVEL A2ML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250304.3 6 9.324688 KEEP 0 0 0 31 1017 CC 0.999997 0.909066 0 + 5 60 170 0 0 12.842135 35 60 1150 86 ENST00000299698.7 0.125 0.909069 A2ML1 144568 __UNKNOWN__ __UNKNOWN__ 12 9021040 9021040 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:9021040A>G ENST00000299698.7 + 31 4241 A2ML1_ENST00000539547.1_Intron NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 alpha-2-macroglobulin-like 1 NA NA NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 gtgtctgtgtatgtgtgtgtg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057908 CCDS8596.2, CCDS73439.1 12p13 2010-12-14 2005-09-01 2005-09-01 ENSG00000166535 ENSG00000166535 144568 23336 protein-coding gene gene with protein product 610627 C3 and PZP-like, alpha-2-macroglobulin domain containing 9 CPAMD9 NA 16298998 Standard NM_144670 NM_144670 NA Approved FLJ25179 uc001quz.5 A8K2U0 OTTHUMG00000128499 ENST00000299698.7:c.4061+87A>G chr12.hg19:g.9021040A>G NA hg19 CCDS8596.2 0.02 -0.376757 TGTxTGT COVERED NOVEL A2ML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250304.3 8 8.723687 KEEP 0 0 0 29 835 AA 0.999997 0.909066 0 + 4 60 143 0 0 10.756869 32 60 857 90 ENST00000299698.7 0.111111 0.909069 PHC1 1911 __UNKNOWN__ __UNKNOWN__ 12 9074444 9074444 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:9074444A>C ENST00000543824.1 + 6 788 PHC1_ENST00000544916.1_Intron|PHC1_ENST00000433847.2_Intron|PHC1_ENST00000433083.2_Intron|PHC1_ENST00000536844.1_Intron P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) NA NA cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275) nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 gaatctcgctatgtcacccag 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U89277 CCDS8597.1 12p13 2013-01-10 2006-09-12 2002-11-15 ENSG00000111752 ENSG00000111752 1911 Sterile alpha motif (SAM) domain containing 3182 protein-coding gene gene with protein product 602978 early development regulator 1 (homolog of polyhomeotic 1), polyhomeotic-like 1 (Drosophila) EDR1 NA 9121482 Standard NM_004426 XM_005253334 NA Approved HPH1, RAE28 uc001qvd.3 P78364 OTTHUMG00000168275 ENST00000543824.1:c.456+98A>C chr12.hg19:g.9074444A>C NA D3DUV4|Q8WVM3|Q9BU63 hg19 CCDS8597.1 0.02 1.716638 GCTxTGT COVERED NOVEL PHC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399115.1 8 5.046755 KEEP 0 4 144 67 1949 AA 1 0.999768 0 + 4 60 139 0 1 9.030648 71 60 1953 200 ENST00000543824.1 0.053333 0.999768 PHC1 1911 __UNKNOWN__ __UNKNOWN__ 12 9085218 9085218 __UNKNOWN__ Nonsense_Mutation SNP C C T rs201644380 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:9085218C>T ENST00000543824.1 + 9 1497 c.1165C>T c.(1165-1167)Cag>Tag p.Q389* PHC1_ENST00000544916.1_Nonsense_Mutation_p.Q389*|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Nonsense_Mutation_p.Q344*|PHC1_ENST00000536844.1_Nonsense_Mutation_p.Q168* P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 389 NA cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275) nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 GATCCACCTCCAGCAGAAACA 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001587 stop_gained U89277 CCDS8597.1 12p13 2013-01-10 2006-09-12 2002-11-15 ENSG00000111752 ENSG00000111752 1911 Sterile alpha motif (SAM) domain containing 3182 protein-coding gene gene with protein product 602978 early development regulator 1 (homolog of polyhomeotic 1), polyhomeotic-like 1 (Drosophila) EDR1 NA 9121482 Standard NM_004426 XM_005253334 NA Approved HPH1, RAE28 uc001qvd.3 P78364 OTTHUMG00000168275 ENST00000543824.1:c.1165C>T chr12.hg19:g.9085218C>T ENSP00000440674:p.Gln389* NA D3DUV4|Q8WVM3|Q9BU63 hg19 CCDS8597.1 0.02 8.811708 CTCxAGC COVERED 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 C 39 7.893230 0.98548 . . ENSG00000111752 ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844 . . . 5.27 4.39 0.52855 . 0.000000 0.64402 D 0.000014 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.41790 T 0.15 -11.2337 11.7492 0.51839 0.0:0.9155:0.0:0.0845 . . . . X 389;389;344;389;168 . ENSP00000251757:Q389X Q + 1 0 PHC1 8976485 0.997000 0.39634 0.973000 0.42090 0.996000 0.88848 4.046000 0.57376 1.457000 0.47850 0.650000 0.86243 CAG NOVEL PHC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399115.1 14 13.188143 KEEP 27 13 402 185 6499 CC 1 1 0 + 47 50 1360 0 0 101.820557 254 60 8531 699 ENST00000543824.1 0.156146 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9453916 9453916 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:9453916C>T NA NA SNORA75 (14498 upstream) : RP13-735L24.1 (66143 downstream) NA NA NA TCCAGACACCCGGGCCAAGAA 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.9453916C>T NA hg19 0.02 1.331903 ACCxGGG COVERED NOVEL 0 1 2.206692 KEEP 6 1 33 19 570 CC 0.999863 0.992789 0 5 39 138 0 0 8.619854 58 60 1724 93 0.079365 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9581571 9581571 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:9581571G>A NA NA RP13-735L24.1 (31358 upstream) : SNORA75 (16082 downstream) NA NA NA cacctgcctcggcctcccaag 0.507 NA G||| 2 0.000399361 0.0015 0 5008 , , NA -128 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.9581571G>A NA hg19 0.02 -0.412181 CTCxGCC COVERED NOVEL 0 8 2.240682 KEEP 9 1 33 19 596 GG 0.999366 0.941145 0 4 27 121 0 0 8.276676 38 60 1131 83 0.095238 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9581613 9581613 __UNKNOWN__ IGR SNP T T C rs11050922 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:9581613T>C NA NA RP13-735L24.1 (31400 upstream) : SNORA75 (16040 downstream) NA NA NA ccaccacacctggccGACCCT 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.9581613T>C NA hg19 0.02 3.748191 ACCxGGC COVERED NOVEL 0 7 9.359964 KEEP 5 1 37 44 1320 TT 1 0.999987 0 7 27 231 0 0 15.495722 91 60 2555 185 0.071429 0.999987 CLEC9A 283420 __UNKNOWN__ __UNKNOWN__ 12 10208451 10208451 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:10208451T>A ENST00000355819.1 + 5 785 NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A NA NA positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898) cell surface (GO:0009986)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 aggtcaggagttcaagaccag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8611.1 12p13.31 2010-04-27 ENSG00000197992 283420 C-type lectin domain containing 26705 protein-coding gene gene with protein product 612252 NA Standard NM_207345 NM_207345 NA Approved UNQ9341, HEEE9341 uc001qxa.3 Q6UXN8 ENST00000355819.1:c.172+1501T>A chr12.hg19:g.10208451T>A NA B0ZBM2 hg19 CCDS8611.1 0.02 -0.087688 GAGxTCA UNCOVERED NOVEL CLEC9A-001 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000399564.1 7 3.310073 KEEP 1 0 0 11 356 TT 0.993072 0.09903 0 + 3 60 77 0 0 6.642234 6 60 183 31 ENST00000355819.1 0.333333 0.099721 NKG2-E 0 __UNKNOWN__ __UNKNOWN__ 12 10565194 10565194 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:10565194T>C ENST00000539033.1 - 7 714 c.700A>G c.(700-702)Acc>Gcc p.T234A KLRC3_ENST00000381904.2_Missense_Mutation_p.T234A|KLRC3_ENST00000396439.2_Missense_Mutation_p.T234A NA NA NA accagcctggtcaacatgatg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 12 NA NA 10565194 176 153 329 SO:0001583 missense NA NA NA NA ENST00000539033.1:c.700A>G chr12.hg19:g.10565194T>C ENSP00000437563:p.Thr234Ala NA hg19 0.02 1.795357 TGGxCAA COVERED . . . . . . . . . . T 7.900 0.734151 0.15574 . . ENSG00000255641;ENSG00000205810;ENSG00000205810 ENST00000539033;ENST00000396439;ENST00000381904 T;T;T 0.10573 2.86;2.86;2.86 0.381 -0.763 0.11030 . . . . . T 0.03053 0.0090 N 0.08118 0 0.09310 N 1 P;P 0.40909 0.732;0.557 B;B 0.31101 0.124;0.066 T 0.37641 -0.9697 8 0.11794 T 0.64 . . . . . 234;234 F5H6K3;Q07444 .;NKG2E_HUMAN A 234 ENSP00000437563:T234A;ENSP00000379716:T234A;ENSP00000371329:T234A ENSP00000371329:T234A T - 1 0 KLRC3;RP11-277P12.6 10456461 0.450000 0.25697 0.007000 0.13788 0.007000 0.05969 0.284000 0.18864 -0.648000 0.05437 -0.679000 0.03777 ACC NOVEL NKG2-E-001 KNOWN basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000400274.1 5 12.896478 KEEP 3 2 63 65 2075 TT 1 0.999559 0 - 5 60 163 0 0 10.836179 66 60 1971 173 ENST00000539033.1 0.070423 0.999559 NKG2-E 0 __UNKNOWN__ __UNKNOWN__ 12 10565202 10565202 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:10565202A>G ENST00000539033.1 - 7 706 c.692T>C c.(691-693)aTc>aCc p.I231T KLRC3_ENST00000381904.2_Missense_Mutation_p.I231T|KLRC3_ENST00000396439.2_Missense_Mutation_p.I231T NA NA NA ggtcaacatgatgaaaccccg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 12 NA NA 10565202 177 150 327 SO:0001583 missense NA NA NA NA ENST00000539033.1:c.692T>C chr12.hg19:g.10565202A>G ENSP00000437563:p.Ile231Thr NA hg19 0.02 1.692782 ATGxTGA COVERED . . . . . . . . . . A 5.561 0.288369 0.10513 . . ENSG00000255641;ENSG00000205810;ENSG00000205810 ENST00000539033;ENST00000396439;ENST00000381904 T;T;T 0.11277 2.79;2.79;2.79 0.381 -0.763 0.11030 . . . . . T 0.04724 0.0128 N 0.08118 0 0.09310 N 1 B;B 0.17667 0.006;0.023 B;B 0.09377 0.004;0.002 T 0.37361 -0.9709 8 0.66056 D 0.02 . . . . . 231;231 F5H6K3;Q07444 .;NKG2E_HUMAN T 231 ENSP00000437563:I231T;ENSP00000379716:I231T;ENSP00000371329:I231T ENSP00000371329:I231T I - 2 0 KLRC3;RP11-277P12.6 10456469 0.252000 0.23972 0.001000 0.08648 0.001000 0.01503 0.319000 0.19522 -0.478000 0.06823 -0.478000 0.04885 ATC NOVEL NKG2-E-001 KNOWN basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000400274.1 1 15.066095 KEEP 3 1 28 60 1734 AA 1 0.995687 0 - 6 60 194 0 0 13.751715 55 60 1488 139 ENST00000539033.1 0.098361 0.995687 LRP6 4040 __UNKNOWN__ __UNKNOWN__ 12 12356441 12356441 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:12356441T>C ENST00000543091.1 - 3 483 LRP6_ENST00000261349.4_Intron O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 NA NA anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202) apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) tggctcacacttgtaatccca 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF074264 CCDS8647.1 12p13.2 2013-05-29 ENSG00000070018 ENSG00000070018 4040 Low density lipoprotein receptors 6698 protein-coding gene gene with protein product 603507 NA 9704021 Standard NM_002336 NA Approved ADCAD2 uc001rah.4 O75581 OTTHUMG00000168540 ENST00000543091.1:c.450-107A>G chr12.hg19:g.12356441T>C NA Q17RZ2 hg19 0.02 -0.359573 CACxTGT COVERED NOVEL LRP6-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000400140.1 5 11.464341 KEEP 0 1 37 51 1623 TT 1 0.888875 0 - 3 60 107 0 0 7.472187 38 60 1126 102 ENST00000543091.1 0.073171 0.888875 LRP6 4040 __UNKNOWN__ __UNKNOWN__ 12 12404509 12404509 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:12404509A>G ENST00000543091.1 - 2 89 LRP6_ENST00000261349.4_Intron O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 NA NA anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202) apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) tcaccatgttagccaggatgg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF074264 CCDS8647.1 12p13.2 2013-05-29 ENSG00000070018 ENSG00000070018 4040 Low density lipoprotein receptors 6698 protein-coding gene gene with protein product 603507 NA 9704021 Standard NM_002336 NA Approved ADCAD2 uc001rah.4 O75581 OTTHUMG00000168540 ENST00000543091.1:c.56-6920T>C chr12.hg19:g.12404509A>G NA Q17RZ2 hg19 0.02 -0.070165 GTTxGCC UNCOVERED NOVEL LRP6-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000400140.1 7 2.40668 KEEP 0 0 0 8 235 AA 0.99257 0.053735 0 - 2 40 72 0 0 6.495883 4 60 119 19 ENST00000543091.1 0.333333 0.054137 EMP1 2012 __UNKNOWN__ __UNKNOWN__ 12 13350459 13350459 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:13350459T>C ENST00000544053.1 + 1 147 EMP1_ENST00000396301.3_Intron|EMP1_ENST00000431267.2_Intron|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000256951.5_Intron P54849 EMP1_HUMAN epithelial membrane protein 1 NA NA cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) NA Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) cctgtaatcctagcactttgg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U43916 CCDS8660.1 12p12.3 2008-08-04 ENSG00000134531 2012 3333 protein-coding gene gene with protein product 602333 NA 8996089, 9126480 Standard NM_001423 NM_001423 NA Approved TMP, CL-20 uc001rbr.3 P54849 ENST00000544053.1:c.-124+653T>C chr12.hg19:g.13350459T>C NA B2R5N1|B4DRR1|O00681|Q13481|Q13834 hg19 0.02 -0.201729 TCCxAGC COVERED NOVEL EMP1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000401022.1 13 3.309774 KEEP 1 0 0 11 340 TT 0.993072 0.487146 0 + 3 60 107 1 0 8.609982 15 60 437 47 ENST00000544053.1 0.166667 0.490544 ATF7IP 55729 __UNKNOWN__ __UNKNOWN__ 12 14522973 14522973 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:14522973A>G ENST00000536444.1 + 1 99 ATF7IP_ENST00000543189.1_Intron|ATF7IP_ENST00000261168.4_Intron Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein NA NA DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nucleus (GO:0005634) cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 ccaggttcaaatgattctcct 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ242978 CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1 12p13.1 2005-11-18 ENSG00000171681 55729 20092 protein-coding gene gene with protein product 613644 NA 10976766, 10777215 Standard NM_018179 XM_005253424 NA Approved FLJ10688, p621 uc001rbw.3 Q6VMQ6 ENST00000536444.1:c.-8+4212A>G chr12.hg19:g.14522973A>G NA F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8 hg19 0.02 -0.157869 CAAxTGA COVERED NOVEL ATF7IP-001 PUTATIVE NAGNAG_splice_site|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000400499.1 6 3.008085 KEEP 2 0 0 10 295 AA 0.992708 0.320453 0 + 4 60 136 0 0 11.36854 14 60 407 41 ENST00000536444.1 0.222222 0.322807 RP11-174G6.1 0 __UNKNOWN__ __UNKNOWN__ 12 14863402 14863402 __UNKNOWN__ RNA SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:14863402G>C ENST00000501178.2 + 0 247 NA NA NA aatgtcatcagttaaggcaag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000501178.2: chr12.hg19:g.14863402G>C NA hg19 0.02 -0.11404 TCAxTTA UNCOVERED NOVEL RP11-174G6.1-001 KNOWN basic antisense NA antisense OTTHUMT00000400838.1 2 2.407911 KEEP 19 0 0 8 288 GG 0 0 0 + 4 21 135 0 0 12.277042 7 22 229 48 ENST00000501178.2 0.363636 0.162467 C12orf60 144608 __UNKNOWN__ __UNKNOWN__ 12 15009342 15009342 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:15009342A>G ENST00000527783.1 + 2 75 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 NA NA breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 ctgttcctgtattagtttgct 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC038836 CCDS8667.1 12p12.3 2012-08-16 ENSG00000182993 ENSG00000182993 144608 28726 protein-coding gene gene with protein product NA 12477932 Standard NM_175874 NM_175874 NA Approved MGC47869 uc001rcj.4 Q5U649 OTTHUMG00000167473 ENST00000527783.1:c.76-42761A>G chr12.hg19:g.15009342A>G NA A8K1M7|Q5XKK8|Q8IXY2 hg19 0.02 -0.271827 TGTxTTA COVERED NOVEL C12orf60-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000394737.1 5 2.406738 KEEP 0 0 0 8 239 AA 0.99257 0.711986 0 + 4 60 130 1 0 9.794736 26 60 713 50 ENST00000527783.1 0.133333 0.717315 RERG 85004 __UNKNOWN__ __UNKNOWN__ 12 15370319 15370319 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:15370319T>A ENST00000256953.2 - 2 398 RERG_ENST00000546331.1_Intron|RERG_ENST00000538313.1_Intron|RERG_ENST00000536465.1_Intron|RERG_ENST00000537647.1_Intron NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor NA NA negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 AGAAACACACTCACCCACACA 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 185 153 164 NA NA NA 12 NA NA 15370319 2203 4300 6503 SO:0001627 intron_variant AF339750 CCDS8673.1, CCDS53753.1 12p13.1 2014-05-09 ENSG00000134533 ENSG00000134533 85004 15980 protein-coding gene gene with protein product 612664 NA 11533059 Standard NM_032918 NM_032918 NA Approved MGC15754 uc001rct.3 Q96A58 OTTHUMG00000168745 ENST00000256953.2:c.61+43A>T chr12.hg19:g.15370319T>A NA B2R9R0|B4DI02 hg19 CCDS8673.1 0.02 4.465461 CACxCAC COVERED NOVEL RERG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400882.1 29 32.64824 KEEP 0 5 158 164 5096 TT 1 1 0 - 7 60 215 2 0 12.355653 154 60 4496 465 ENST00000256953.2 0.043478 1 EPS8 2059 __UNKNOWN__ __UNKNOWN__ 12 15813477 15813477 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:15813477T>C ENST00000540613.1 - 3 558 EPS8_ENST00000543523.1_Intron|EPS8_ENST00000542903.1_Intron|EPS8_ENST00000281172.5_Intron|EPS8_ENST00000543612.1_Intron Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 NA NA actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165) cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982) actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) ggattacaggtgtgagccact 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U12535 CCDS31753.1 12p12.3 2008-05-02 ENSG00000151491 2059 3420 protein-coding gene gene with protein product 600206 NA 8084614 Standard NM_004447 NA Approved uc001rdb.3 Q12929 ENST00000540613.1:c.157+70A>G chr12.hg19:g.15813477T>C NA A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0 hg19 0.02 5.611222 AGGxGTG COVERED NOVEL EPS8-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000401095.1 44 10.765763 KEEP 0 4 141 85 2523 TT 1 1 0 - 8 60 270 0 0 17.385038 137 60 3924 362 ENST00000540613.1 0.055172 1 EPS8 2059 __UNKNOWN__ __UNKNOWN__ 12 15932016 15932016 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:15932016A>G ENST00000281172.5 - 1 416 EPS8_ENST00000543523.1_Intron NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 NA NA actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165) cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982) actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) gggttcaagcaattctcctgc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U12535 CCDS31753.1 12p12.3 2008-05-02 ENSG00000151491 2059 3420 protein-coding gene gene with protein product 600206 NA 8084614 Standard NM_004447 NA Approved uc001rdb.3 Q12929 ENST00000281172.5:c.20+10078T>C chr12.hg19:g.15932016A>G NA A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0 hg19 CCDS31753.1 0.02 -0.210415 AGCxATT COVERED NOVEL EPS8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401093.1 4 2.707598 KEEP 1 0 0 9 265 AA 0.99254 0.518266 0 - 6 60 184 0 0 15.531758 17 60 449 38 ENST00000281172.5 0.26087 0.522161 PIK3C2G 5288 __UNKNOWN__ __UNKNOWN__ 12 18631663 18631663 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:18631663A>G ENST00000266497.5 + 17 2419 PIK3C2G_ENST00000538779.1_Intron|PIK3C2G_ENST00000433979.1_Intron O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma NA NA chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307) breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) tgtaatcccaacactttggga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ000008 CCDS44839.1, CCDS73452.1 12p12 2012-07-13 2012-07-13 ENSG00000139144 ENSG00000139144 5288 2.7.1.154 8973 protein-coding gene gene with protein product 609001 phosphoinositide-3-kinase, class 2, gamma polypeptide NA 9878262 Standard NM_004570 XM_005253393 NA Approved uc001rdt.3 O75747 OTTHUMG00000168841 ENST00000266497.5:c.2382-9720A>G chr12.hg19:g.18631663A>G NA A1L3U0 hg19 CCDS44839.1 0.02 -0.306932 CCAxCAC COVERED NOVEL PIK3C2G-002 KNOWN NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401316.1 10 2.407536 KEEP 0 0 0 8 259 AA 0.99257 0.7943 0 + 3 60 106 0 1 7.8923 25 60 743 62 ENST00000266497.5 0.107143 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 19705817 19705817 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:19705817T>A NA NA AEBP2 (32659 upstream) : RNU1-146P (171551 downstream) NA NA NA cccaggctggtgtgcaatggc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.19705817T>A NA hg19 0.02 -0.16664 TGGxGTG COVERED NOVEL 0 4 3.00783 KEEP 2 0 0 10 301 TT 0.992708 0.351366 0 3 60 94 0 0 7.392029 14 60 413 49 0.176471 0.353947 RP11-405A12.2 0 __UNKNOWN__ __UNKNOWN__ 12 20053214 20053214 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:20053214T>C ENST00000535764.1 + 0 153 NA NA NA gcactccagcttgggcaacaa 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000535764.1: chr12.hg19:g.20053214T>C NA hg19 0.02 1.856777 AGCxTGG COVERED NOVEL RP11-405A12.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000401672.1 18 3.611353 KEEP 0 0 0 12 395 TT 0.993634 0.991202 0 + 8 60 258 0 0 18.932404 60 60 1812 127 ENST00000535764.1 0.117647 0.997553 PDE3A 5139 __UNKNOWN__ __UNKNOWN__ 12 20836488 20836488 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:20836488C>T ENST00000359062.3 + 0 6749 NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493) cytosol (GO:0005829)|integral component of membrane (GO:0016021) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811) TAATAAATGTCTTTCCGGTTA 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31754.1 12p12.2 2011-04-15 ENSG00000172572 ENSG00000172572 5139 3.1.4.17 Phosphodiesterases 8778 protein-coding gene gene with protein product 123805 NA 1315035, 10679291 Standard NM_000921 NA Approved CGI-PDE uc001reh.2 Q14432 OTTHUMG00000168962 ENST00000359062.3:c.*3283C>T chr12.hg19:g.20836488C>T NA O60865|Q13348|Q17RD1 hg19 CCDS31754.1 0.02 1.383425 TGTxTTT COVERED NOVEL PDE3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401756.2 4 7.825081 KEEP 0 0 0 26 900 CC 0.999957 0.984119 0 + 6 60 175 0 0 12.188332 48 60 1579 102 ENST00000359062.3 0.111111 0.984161 IAPP 3375 __UNKNOWN__ __UNKNOWN__ 12 21531989 21531989 __UNKNOWN__ 3'UTR SNP G G A rs5485 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:21531989G>A ENST00000542023.1 + 0 1092 IAPP_ENST00000240652.3_3'UTR|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000473830.1_Intron P10997 IAPP_HUMAN islet amyloid polypeptide NA NA apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025) identical protein binding (GO:0042802)|receptor binding (GO:0005102) lung(3) 3 agcctgggtggcagagtgaga 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8688.1 12p12.1 2013-02-25 ENSG00000121351 ENSG00000121351 3375 Endogenous ligands 5329 protein-coding gene gene with protein product amylin 147940 NA Standard NM_000415 NM_000415 NA Approved AMYLIN, DAP, IAP uc001rev.3 P10997 OTTHUMG00000169128 ENST00000542023.1:c.*751G>A chr12.hg19:g.21531989G>A NA Q0ZD87|Q14598 hg19 0.02 3.090796 GTGxCAG COVERED NOVEL IAPP-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000402357.1 10 5.151226 KEEP 0 1 34 29 1012 GG 0.999997 0.999993 0 + 7 60 210 2 0 13.243512 96 60 3305 203 ENST00000542023.1 0.067961 0.999995 ABCC9 10060 __UNKNOWN__ __UNKNOWN__ 12 22068490 22068490 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:22068490C>A ENST00000261200.4 - 5 816 ABCC9_ENST00000345162.2_Intron|ABCC9_ENST00000261201.4_Intron NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 NA NA defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glyburide(DB01016) tctgtcaccccggctggagtg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061323 CCDS8693.1, CCDS8694.1 12p12.1 2014-09-17 ENSG00000069431 ENSG00000069431 10060 ATP binding cassette transporters / subfamily C 60 protein-coding gene gene with protein product sulfonylurea receptor 2 601439 NA 9457174, 15034580 Standard NM_005691 NM_020297 NA Approved SUR2, CMD1O uc001rfh.3 O60706 OTTHUMG00000169094 ENST00000261200.4:c.816+111G>T chr12.hg19:g.22068490C>A NA O60707 hg19 CCDS8693.1 0.02 1.172898 CCCxGGC COVERED NOVEL ABCC9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402228.1 16 7.522999 KEEP 0 0 0 25 819 CC 0.999931 0.999418 0 - 6 60 182 1 0 11.954356 70 60 2231 120 ENST00000261200.4 0.078947 0.999487 ABCC9 10060 __UNKNOWN__ __UNKNOWN__ 12 22068540 22068540 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:22068540A>G ENST00000261200.4 - 5 816 ABCC9_ENST00000345162.2_Intron|ABCC9_ENST00000261201.4_Intron NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 NA NA defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glyburide(DB01016) tctgcctcccaggttcatgcc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061323 CCDS8693.1, CCDS8694.1 12p12.1 2014-09-17 ENSG00000069431 ENSG00000069431 10060 ATP binding cassette transporters / subfamily C 60 protein-coding gene gene with protein product sulfonylurea receptor 2 601439 NA 9457174, 15034580 Standard NM_005691 NM_020297 NA Approved SUR2, CMD1O uc001rfh.3 O60706 OTTHUMG00000169094 ENST00000261200.4:c.816+61T>C chr12.hg19:g.22068540A>G NA O60707 hg19 CCDS8693.1 0.02 5.669155 CCCxGGT COVERED NOVEL ABCC9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402228.1 71 14.745583 KEEP 0 0 0 49 1568 AA 1 1 0 - 8 60 259 1 0 15.913553 153 60 4636 334 ENST00000261200.4 0.049689 1 SOX5 6660 __UNKNOWN__ __UNKNOWN__ 12 23730794 23730794 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:23730794A>G ENST00000545921.1 - 10 1290 SOX5_ENST00000546136.1_Intron|SOX5_ENST00000309359.1_Intron|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000396007.2_Intron|SOX5_ENST00000451604.2_Intron|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron NM_001261415.1 NP_001248344.1 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 NA NA cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366) nuclear transcription factor complex (GO:0044798) sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 agtggctcacacctgtaatcc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB081589 CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1 12p12.1 2010-04-20 ENSG00000134532 ENSG00000134532 6660 SRY (sex determining region Y)-boxes 11201 protein-coding gene gene with protein product 604975 NA 8812465 Standard NM_006940 NM_006940 NA Approved L-SOX5, MGC35153 uc001rfw.3 P35711 OTTHUMG00000169026 ENST00000545921.1:c.1135-2022T>C chr12.hg19:g.23730794A>G NA B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4 hg19 CCDS58217.1 0.02 -0.306459 CACxCCT COVERED NOVEL SOX5-007 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402010.1 7 3.008818 KEEP 0 0 0 10 305 AA 0.992708 0.79441 0 - 3 60 102 0 0 7.269644 30 60 847 67 ENST00000545921.1 0.090909 0.800245 SOX5 6660 __UNKNOWN__ __UNKNOWN__ 12 24103939 24103939 __UNKNOWN__ 5'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:24103939T>A ENST00000545921.1 - 0 27 SOX5_ENST00000441133.2_5'UTR NM_001261415.1 NP_001248344.1 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 NA NA cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366) nuclear transcription factor complex (GO:0044798) sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 acacacacactcactcacgca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB081589 CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1 12p12.1 2010-04-20 ENSG00000134532 ENSG00000134532 6660 SRY (sex determining region Y)-boxes 11201 protein-coding gene gene with protein product 604975 NA 8812465 Standard NM_006940 NM_006940 NA Approved L-SOX5, MGC35153 uc001rfw.3 P35711 OTTHUMG00000169026 ENST00000545921.1:c.-129A>T chr12.hg19:g.24103939T>A NA B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4 hg19 CCDS58217.1 0.02 1.298446 CACxCAC COVERED NOVEL SOX5-007 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402010.1 2 16.862979 KEEP 0 1 31 67 1996 TT 1 0.99911 0 - 8 60 201 0 1 12.84663 68 70 1969 159 ENST00000545921.1 0.105263 0.99911 SOX5 6660 __UNKNOWN__ __UNKNOWN__ 12 24103943 24103943 __UNKNOWN__ 5'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:24103943T>A ENST00000545921.1 - 0 23 SOX5_ENST00000441133.2_5'UTR NM_001261415.1 NP_001248344.1 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 NA NA cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366) nuclear transcription factor complex (GO:0044798) sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 acacactcactcacgcacGCT 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB081589 CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1 12p12.1 2010-04-20 ENSG00000134532 ENSG00000134532 6660 SRY (sex determining region Y)-boxes 11201 protein-coding gene gene with protein product 604975 NA 8812465 Standard NM_006940 NM_006940 NA Approved L-SOX5, MGC35153 uc001rfw.3 P35711 OTTHUMG00000169026 ENST00000545921.1:c.-133A>T chr12.hg19:g.24103943T>A NA B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4 hg19 CCDS58217.1 0.02 1.37727 CACxCAC COVERED NOVEL SOX5-007 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402010.1 3 15.667256 KEEP 0 1 31 63 1915 TT 1 0.997163 0 - 6 60 166 0 0 10.705224 61 70 1770 149 ENST00000545921.1 0.089552 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 24494191 24494191 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:24494191A>G NA NA RP11-778H2.1 (103292 upstream) : RP11-444D3.1 (26677 downstream) NA NA NA caggaggatcacttgagccca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.24494191A>G NA hg19 0.02 -0.306954 ATCxCTT COVERED NOVEL 0 9 3.009131 KEEP 1 0 0 10 311 AA 0.992708 0.79441 0 3 60 99 0 0 7.009696 29 60 851 62 0.09375 0.800245 SSPN 8082 __UNKNOWN__ __UNKNOWN__ 12 26404141 26404141 __UNKNOWN__ Intron SNP C C T rs148732284 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:26404141C>T ENST00000535504.1 + 3 366 RP11-283G6.5_ENST00000541940.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA Q14714 SSPN_HUMAN sarcospan NA NA cell adhesion (GO:0007155)|muscle contraction (GO:0006936) cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133) kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 Colorectal(261;0.0847) tttgggaggccgaggcaggca 0.418 NA C||| 40 0.00798722 8e-04 0.0086 5008 , , NA 16685 0.001 NA 0.0268 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF016028 CCDS8707.1, CCDS44850.1 12p11.2 2014-09-17 2012-03-14 ENSG00000123096 8082 11322 protein-coding gene gene with protein product 601599 Kras oncogene-associated gene KRAG NA 9395445, 8661122 Standard NM_005086 NM_005086 NA Approved SPN1, SPN2 uc001rhe.3 Q14714 ENST00000535504.1:c.367-1660C>T chr12.hg19:g.26404141C>T NA B3KS67 hg19 0.02 -0.271912 GGCxGAG COVERED NOVEL SSPN-008 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000402722.1 8 3.611417 KEEP 1 0 0 12 405 CC 0.993634 0.712749 0 + 3 60 92 0 0 6.444991 26 60 841 63 ENST00000535504.1 0.103448 0.717315 ASUN 55726 __UNKNOWN__ __UNKNOWN__ 12 27063955 27063955 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:27063955G>A ENST00000261191.7 - 15 2482 ASUN_ENST00000539625.1_Intron NM_018164.2 NP_060634.2 Q9NVM9 ASUN_HUMAN asunder spermatogenesis regulator NA NA centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317) cytoplasm (GO:0005737)|nucleus (GO:0005634) NA tttattagaggtggggtttca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001222 CCDS8708.1 12p12.3 2013-05-08 2013-05-08 2011-12-09 ENSG00000064102 ENSG00000064102 55726 20174 protein-coding gene gene with protein product spermatogenesis associated 30 615079 chromosome 12 open reading frame 11, asunder, spermatogenesis regulator homolog (Drosphila) C12orf11 NA 12414650, 19357193, 23097494 Standard NM_018164 NM_018164 NA Approved FLJ10637, NET48, Mat89Bb, SPATA30 uc001rhk.4 Q9NVM9 OTTHUMG00000169193 ENST00000261191.7:c.1945+155C>T chr12.hg19:g.27063955G>A NA B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5 hg19 CCDS8708.1 0.02 -0.219253 GAGxTGG COVERED NOVEL ASUN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402819.1 1 6.007139 KEEP 0 0 0 20 658 GG 0.999863 0.552812 0 - 5 60 126 0 0 9.757667 18 60 585 49 ENST00000261191.7 0.217391 0.552887 STK38L 23012 __UNKNOWN__ __UNKNOWN__ 12 27432409 27432409 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:27432409C>G ENST00000389032.3 + 2 158 STK38L_ENST00000539577.1_Intron NM_015000.3 NP_055815.1 serine/threonine kinase 38 like NA NA breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) tgtaatcccaccactttggga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023182 CCDS31761.1 12p11.23 2014-04-23 ENSG00000211455 ENSG00000211455 23012 17848 protein-coding gene gene with protein product nuclear Dbf2-related 2 615836 NA 16488889 Standard NM_015000 NM_015000 NA Approved KIAA0965, NDR2 uc001rhr.3 Q9Y2H1 OTTHUMG00000169284 ENST00000389032.3:c.-11-18234C>G chr12.hg19:g.27432409C>G NA hg19 CCDS31761.1 0.02 -0.333331 CCAxCAC COVERED NOVEL STK38L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403297.1 6 3.31054 KEEP 0 0 0 11 393 CC 0.993072 0.846082 0 + 3 60 109 0 0 7.84783 33 60 1118 73 ENST00000389032.3 0.083333 0.851984 ARNTL2 56938 __UNKNOWN__ __UNKNOWN__ 12 27574231 27574231 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:27574231T>C ENST00000544915.1 + 0 2794 RP11-165P7.1_ENST00000500498.2_RNA NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 NA NA circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) gtaatcccagtactttgggag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF246961 CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1 12p12.2-p11.2 2013-05-21 ENSG00000029153 ENSG00000029153 56938 Basic helix-loop-helix proteins 18984 protein-coding gene gene with protein product 614517 NA 10864977, 10964693 Standard NM_020183 NM_020183 NA Approved BMAL2, MOP9, CLIF, PASD9, bHLHe6 uc001rht.2 Q8WYA1 OTTHUMG00000169257 ENST00000544915.1:c.*766T>C chr12.hg19:g.27574231T>C NA B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5 hg19 0.02 1.696032 CAGxACT COVERED NOVEL ARNTL2-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000403157.1 7 10.8594 KEEP 0 1 28 46 1294 TT 1 0.99911 0 + 9 60 268 1 0 19.265352 64 60 1720 139 ENST00000544915.1 0.123288 0.99911 ARNTL2 56938 __UNKNOWN__ __UNKNOWN__ 12 27574248 27574248 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:27574248A>G ENST00000544915.1 + 0 2811 RP11-165P7.1_ENST00000500498.2_RNA NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 NA NA circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) ggaggctgagacgggcagatc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF246961 CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1 12p12.2-p11.2 2013-05-21 ENSG00000029153 ENSG00000029153 56938 Basic helix-loop-helix proteins 18984 protein-coding gene gene with protein product 614517 NA 10864977, 10964693 Standard NM_020183 NM_020183 NA Approved BMAL2, MOP9, CLIF, PASD9, bHLHe6 uc001rht.2 Q8WYA1 OTTHUMG00000169257 ENST00000544915.1:c.*783A>G chr12.hg19:g.27574248A>G NA B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5 hg19 0.02 3.730468 GAGxCGG COVERED NOVEL ARNTL2-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000403157.1 8 4.574309 KEEP 0 4 104 52 1658 AA 1 0.999992 0 + 8 60 231 1 0 14.827544 92 60 2705 181 ENST00000544915.1 0.08 0.999992 FAR2 55711 __UNKNOWN__ __UNKNOWN__ 12 29371044 29371044 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:29371044G>C ENST00000536681.3 + 2 208 NM_001271783.1|NM_001271784.1 NP_001258712.1|NP_001258713.1 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 NA NA cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062) central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 aatcccagcagtttgggaggc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136843 CCDS8717.1, CCDS61084.1 12p11.23 2013-07-30 2008-06-06 2008-06-06 ENSG00000064763 ENSG00000064763 55711 1.2.1.- Short chain dehydrogenase/reductase superfamily / Atypical members 25531 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 10E, member 2 male sterility domain containing 1 MLSTD1 NA 15220348, 15220349, 19027726 Standard NM_018099 NM_001271783 NA Approved FLJ10462, SDR10E2 uc001ris.5 Q96K12 OTTHUMG00000169320 ENST00000536681.3:c.-38-52301G>C chr12.hg19:g.29371044G>C NA F8VV73|Q9H0D5|Q9NVW8 hg19 CCDS8717.1 0.02 -0.342093 GCAxTTT COVERED NOVEL FAR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403479.2 7 2.373306 KEEP 0 0 0 8 260 GG 0.99257 0.859313 0 + 4 60 130 0 0 9.509657 31 60 1069 68 ENST00000536681.3 0.114286 0.865745 ERGIC2 51290 __UNKNOWN__ __UNKNOWN__ 12 29509237 29509237 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:29509237C>T ENST00000360150.4 - 8 648 NM_016570.2 NP_057654.2 Q96RQ1 ERGI2_HUMAN ERGIC and golgi 2 NA NA vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730) endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) attacaggcgcgagccatcgg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF216751 CCDS41765.1 12p11.22 2006-02-08 51290 30208 protein-coding gene gene with protein product 612236 NA 11445006, 12932305 Standard NM_016570 NM_016570 NA Approved PTX1, Erv41 uc001riv.3 Q96RQ1 ENST00000360150.4:c.572+77G>A chr12.hg19:g.29509237C>T NA A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3 hg19 CCDS41765.1 0.02 7.192504 GCGxGAG COVERED NOVEL ERGIC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403489.1 51 4.577554 KEEP 1 5 153 69 2379 CC 1 1 0 - 13 60 381 0 1 22.137544 238 60 7807 487 ENST00000360150.4 0.051793 1 OVCH1-AS1 101055625 __UNKNOWN__ __UNKNOWN__ 12 29542772 29542772 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:29542772T>C ENST00000551108.1 + 1 546 c.334T>C c.(334-336)Tca>Cca p.S112P OVCH1 antisense RNA 1 NA NA NA ACAAAGGCCTTCAGGGGCCTG 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 12p11.22 2013-05-30 ENSG00000257599 ENSG00000257599 101055625 Long non-coding RNAs 44484 non-coding RNA RNA, long non-coding NA Standard NR_073170 NA Approved OTTHUMG00000169323 ENST00000551108.1:c.334T>C chr12.hg19:g.29542772T>C ENSP00000449101:p.Ser112Pro NA hg19 0.02 11.57781 CCTxCAG COVERED . . . . . . . . . . T 4.519 0.096287 0.08681 . . ENSG00000257599 ENST00000551108 . . . 1.01 1.01 0.19927 . . . . . T 0.44623 0.1302 . . . . . . . . . . . . T 0.54309 -0.8313 4 0.87932 D 0 . 4.356 0.11178 0.0:0.0:0.0:1.0 . . . . P 112 . ENSP00000449101:S112P S + 1 0 RP11-677C1.2 29434039 0.002000 0.14202 0.005000 0.12908 0.132000 0.20833 0.469000 0.22067 0.769000 0.33313 0.113000 0.15668 TCA NOVEL OVCH1-AS1-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000403500.1 0 28.26853 KEEP 0 0 0 94 2923 TT 1 1 0 + 58 60 1925 0 0 155.034096 255 60 7443 609 ENST00000551108.1 0.185304 1 LINC00941 100287314 __UNKNOWN__ __UNKNOWN__ 12 30955426 30955426 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:30955426A>G ENST00000547804.1 + 0 1426 NR_040245.1 long intergenic non-protein coding RNA 941 NA NA NA tagtagagacagggtttatcc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK289874, BC072678 12p11.21 2013-05-30 ENSG00000235884 ENSG00000235884 100287314 Long non-coding RNAs 48635 non-coding RNA RNA, long non-coding NA Standard NR_040245 NA Approved OTTHUMG00000169309 ENST00000547804.1: chr12.hg19:g.30955426A>G NA hg19 0.02 -0.166599 GACxGGG COVERED NOVEL LINC00941-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000403387.1 7 3.309806 KEEP 3 0 0 11 339 AA 0.99254 0.351306 0 + 3 60 99 0 0 7.810604 15 60 421 35 ENST00000547804.1 0.166667 0.353947 FAM60A 58516 __UNKNOWN__ __UNKNOWN__ 12 31435471 31435471 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:31435471A>G ENST00000337682.4 - 0 1209 FAM60A_ENST00000539409.1_3'UTR|FAM60A_ENST00000454658.2_3'UTR|FAM60A_ENST00000395766.1_3'UTR NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A NA NA negative regulation of cell migration (GO:0030336) Sin3 complex (GO:0016580) large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) caggagaatcacttgaacccg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF212220 CCDS8723.1 12p11.21 2012-11-30 2005-04-07 2005-04-07 ENSG00000139146 ENSG00000139146 58516 30702 protein-coding gene gene with protein product 615027 chromosome 12 open reading frame 14 C12orf14 NA 11042152, 22984288, 22865885 Standard NM_021238 NM_021238 NA Approved TERA uc001rke.3 Q9NP50 OTTHUMG00000168586 ENST00000337682.4:c.*175T>C chr12.hg19:g.31435471A>G NA D3DUV8|Q9BSZ8 hg19 CCDS8723.1 0.02 3.488111 ATCxCTT COVERED NOVEL FAM60A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400347.1 5 9.629377 KEEP 3 3 103 68 2103 AA 1 0.999997 0 - 6 60 175 0 0 10.606409 91 60 2593 199 ENST00000337682.4 0.061856 0.999997 FAM60A 58516 __UNKNOWN__ __UNKNOWN__ 12 31435512 31435512 __UNKNOWN__ 3'UTR SNP C C T rs375515860 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:31435512C>T ENST00000337682.4 - 0 1168 FAM60A_ENST00000539409.1_3'UTR|FAM60A_ENST00000454658.2_3'UTR|FAM60A_ENST00000395766.1_3'UTR NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A NA NA negative regulation of cell migration (GO:0030336) Sin3 complex (GO:0016580) large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) gccaagatcacgccactgcac 0.493 NA c||| 19 0.00379393 0.0136 0.0014 5008 , , NA 14618 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF212220 CCDS8723.1 12p11.21 2012-11-30 2005-04-07 2005-04-07 ENSG00000139146 ENSG00000139146 58516 30702 protein-coding gene gene with protein product 615027 chromosome 12 open reading frame 14 C12orf14 NA 11042152, 22984288, 22865885 Standard NM_021238 NM_021238 NA Approved TERA uc001rke.3 Q9NP50 OTTHUMG00000168586 ENST00000337682.4:c.*134G>A chr12.hg19:g.31435512C>T NA D3DUV8|Q9BSZ8 hg19 CCDS8723.1 0.02 5.413792 TCAxGCC COVERED NOVEL FAM60A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400347.1 40 21.338764 KEEP 3 2 60 92 3264 CC 1 1 0 - 8 60 223 1 1 12.022924 168 60 5539 449 ENST00000337682.4 0.045455 1 FAM60A 58516 __UNKNOWN__ __UNKNOWN__ 12 31439338 31439338 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:31439338A>G ENST00000337682.4 - 5 875 FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000542983.1_Intron|FAM60A_ENST00000454658.2_Intron|FAM60A_ENST00000395766.1_Intron NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A NA NA negative regulation of cell migration (GO:0030336) Sin3 complex (GO:0016580) large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) gctcacgcctataatcccaac 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF212220 CCDS8723.1 12p11.21 2012-11-30 2005-04-07 2005-04-07 ENSG00000139146 ENSG00000139146 58516 30702 protein-coding gene gene with protein product 615027 chromosome 12 open reading frame 14 C12orf14 NA 11042152, 22984288, 22865885 Standard NM_021238 NM_021238 NA Approved TERA uc001rke.3 Q9NP50 OTTHUMG00000168586 ENST00000337682.4:c.506+1229T>C chr12.hg19:g.31439338A>G NA D3DUV8|Q9BSZ8 hg19 CCDS8723.1 0.02 -0.280629 CCTxTAA COVERED NOVEL FAM60A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400347.1 7 2.407303 KEEP 1 0 0 8 249 AA 0.99257 0.734176 0 - 3 60 103 0 0 7.592358 25 60 712 59 ENST00000337682.4 0.107143 0.739671 DENND5B 160518 __UNKNOWN__ __UNKNOWN__ 12 31604522 31604522 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:31604522T>G ENST00000389082.5 - 5 1894 DENND5B_ENST00000536562.1_Intron|DENND5B_ENST00000354285.4_Intron|DENND5B_ENST00000306833.6_Intron NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B NA NA positive regulation of Rab GTPase activity (GO:0032851) integral component of membrane (GO:0016021)|membrane (GO:0016020) Rab guanyl-nucleotide exchange factor activity (GO:0017112) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 ctcccaaagttctgggattac 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF086301 CCDS44857.1 12p11.21 2012-10-03 ENSG00000170456 ENSG00000170456 160518 DENN/MADD domain containing 28338 protein-coding gene gene with protein product NA 12477932 Standard NM_144973 NM_144973 NA Approved MGC24039 uc001rki.1 Q6ZUT9 OTTHUMG00000169034 ENST00000389082.5:c.1629+351A>C chr12.hg19:g.31604522T>G NA B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8 hg19 CCDS44857.1 0.02 -0.376648 AGTxCTG COVERED NOVEL DENND5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402040.1 3 3.309879 KEEP 0 0 0 11 343 TT 0.993072 0.91181 0 - 5 60 157 0 0 11.490218 36 60 976 79 ENST00000389082.5 0.121951 0.918171 DENND5B 160518 __UNKNOWN__ __UNKNOWN__ 12 31687939 31687939 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:31687939T>C ENST00000389082.5 - 2 392 DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000536562.1_Intron|DENND5B_ENST00000354285.4_Intron NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B NA NA positive regulation of Rab GTPase activity (GO:0032851) integral component of membrane (GO:0016021)|membrane (GO:0016020) Rab guanyl-nucleotide exchange factor activity (GO:0017112) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 acctgggaggtggaggttgca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF086301 CCDS44857.1 12p11.21 2012-10-03 ENSG00000170456 ENSG00000170456 160518 DENN/MADD domain containing 28338 protein-coding gene gene with protein product NA 12477932 Standard NM_144973 NM_144973 NA Approved MGC24039 uc001rki.1 Q6ZUT9 OTTHUMG00000169034 ENST00000389082.5:c.128-39086A>G chr12.hg19:g.31687939T>C NA B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8 hg19 CCDS44857.1 0.02 -0.210322 AGGxGGA COVERED NOVEL DENND5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402040.1 5 3.911056 KEEP 0 0 0 13 401 TT 0.994391 0.519232 0 - 3 60 98 0 0 7.493716 18 60 487 43 ENST00000389082.5 0.142857 0.522161 METTL20 254013 __UNKNOWN__ __UNKNOWN__ 12 31821695 31821695 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:31821695A>G ENST00000357721.3 + 0 1775 METTL20_ENST00000395763.3_3'UTR NM_001135863.1 NP_001129335.1 Q8IXQ9 MET20_HUMAN methyltransferase like 20 NA NA cytoplasm (GO:0005737) protein methyltransferase activity (GO:0008276) lung(2)|stomach(1) 3 ccaaagtgctaggattacagg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC039535 CCDS8724.1 12p11.21 2011-03-03 2011-03-03 2011-03-03 ENSG00000139160 ENSG00000139160 254013 28739 protein-coding gene gene with protein product 615256 chromosome 12 open reading frame 72 C12orf72 NA Standard NM_173802 NM_173802 NA Approved DKFZp451L235, MGC50559 uc001rkm.3 Q8IXQ9 ENST00000357721.3:c.*771A>G chr12.hg19:g.31821695A>G NA D3DUW3 hg19 CCDS8724.1 0.02 1.722251 GCTxGGA COVERED NOVEL METTL20-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402196.1 11 3.310122 KEEP 0 0 0 11 345 AA 0.993072 0.991777 0 + 4 60 129 0 0 8.182875 65 60 1824 108 ENST00000357721.3 0.057971 0.998696 AMN1 196394 __UNKNOWN__ __UNKNOWN__ 12 31862073 31862073 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:31862073T>C ENST00000537562.1 - 5 573 AMN1_ENST00000541931.1_Intron|AMN1_ENST00000541541.1_5'UTR|AMN1_ENST00000281471.6_Intron|AMN1_ENST00000542781.1_Intron|AMN1_ENST00000536761.1_Intron Q8IY45 AMN1_HUMAN antagonist of mitotic exit network 1 homolog (S. cerevisiae) NA NA breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 7 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) tgcaccactgtactccagcct 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS44858.1, CCDS61089.1 12p11.21 2010-07-19 ENSG00000151743 ENSG00000151743 196394 27281 protein-coding gene gene with protein product NA Standard NR_004854 NM_001113402 NA Approved uc001rkq.4 Q8IY45 OTTHUMG00000169192 ENST00000537562.1:c.117+153A>G chr12.hg19:g.31862073T>C NA B7Z7J3|Q6NVU4|Q86X98 hg19 0.02 1.81 CTGxACT COVERED . . . . . . . . . . T 0.625 -0.819471 0.02776 . . ENSG00000151743 ENST00000506446;ENST00000457428 T;T 0.07688 3.17;3.17 0.235 0.235 0.15431 . . . . . T 0.04952 0.0133 . . . 0.09310 N 0.999999 . . . . . . T 0.46965 -0.9153 5 0.16896 T 0.51 . . . . . . . . C 49 ENSP00000439438:Y49C;ENSP00000396145:Y49C ENSP00000396145:Y49C Y - 2 0 AMN1 31753340 0.001000 0.12720 0.090000 0.20809 0.093000 0.18481 -0.381000 0.07417 0.263000 0.21812 0.260000 0.18958 TAC NOVEL AMN1-005 PUTATIVE alternative_5_UTR|upstream_uORF|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000402808.1 8 3.309506 KEEP 0 0 0 11 325 TT 0.993072 0.987533 0 - 5 60 171 0 0 12.053691 54 60 1457 99 ENST00000537562.1 0.084746 0.994422 BICD1 636 __UNKNOWN__ __UNKNOWN__ 12 32529300 32529300 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:32529300T>C ENST00000281474.5 + 10 2943 BICD1_ENST00000548411.1_Intron NM_001714.2 NP_001705.2 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) NA NA anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032) cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802) cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) ggattacaggtgtgagccacc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90028 CCDS8726.1, CCDS44859.1 12p11.2-p11.1 2005-01-13 2001-11-28 ENSG00000151746 636 1049 protein-coding gene gene with protein product 602204 Bicaudal D (Drosophila) homolog 1 NA 9367685 Standard NM_001714 NM_001714 NA Approved uc001rku.3 Q96G01 OTTHUMG00000169307 ENST00000281474.5:c.2841-1174T>C chr12.hg19:g.32529300T>C NA A8K2C3|F8W113|O43892|O43893 hg19 CCDS8726.1 0.02 -0.184153 AGGxGTG COVERED NOVEL BICD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403380.1 5 4.212755 KEEP 0 0 0 14 435 TT 0.995343 0.421506 0 + 3 60 100 0 0 7.992114 14 60 386 46 ENST00000281474.5 0.176471 0.423478 FGD4 121512 __UNKNOWN__ __UNKNOWN__ 12 32589806 32589806 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:32589806A>C ENST00000534526.2 + 1 431 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) aatcccagcaatttgggaggc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057294 CCDS8727.1 12p11.1 2014-09-17 2004-08-24 ENSG00000139132 ENSG00000139132 121512 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 19125 protein-coding gene gene with protein product 611104 FGD1 family, member 4 NA 11527409 Standard NM_139241 NM_139241 NA Approved FRABP, frabin, ZFYVE6, CMT4H uc001rkz.3 Q96M96 OTTHUMG00000137374 ENST00000534526.2:c.166+36913A>C chr12.hg19:g.32589806A>C NA Q6ULS2|Q8TCP6 hg19 0.02 -0.429667 GCAxTTT COVERED NOVEL FGD4-013 PUTATIVE not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000404118.1 12 3.308684 KEEP 0 0 0 11 329 AA 0.993072 0.947879 0 + 4 60 124 0 0 8.412726 42 60 1175 76 ENST00000534526.2 0.086957 0.954491 DNM1L 10059 __UNKNOWN__ __UNKNOWN__ 12 32897561 32897561 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:32897561T>C ENST00000452533.2 + 0 3514 DNM1L_ENST00000381000.4_3'UTR|YARS2_ENST00000551673.1_Intron NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like NA NA apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836) cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) gcaggagaattgcttgaccct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF000430 CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1 12p11.21 2012-10-02 ENSG00000087470 ENSG00000087470 10059 2973 protein-coding gene gene with protein product 603850 NA 9348079, 9731200 Standard NM_012062 NM_012062 NA Approved DRP1, DVLP, HDYNIV, DYMPLE, VPS1 uc001rld.2 O00429 OTTHUMG00000169451 ENST00000452533.2:c.*1217T>C chr12.hg19:g.32897561T>C NA A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2 hg19 CCDS8730.1 0.02 2.983145 AATxGCT COVERED NOVEL DNM1L-001 KNOWN upstream_ATG|basic|CCDS protein_coding NA protein_coding OTTHUMT00000404122.1 6 5.344618 KEEP 1 4 129 63 1803 TT 1 0.999997 0 + 6 60 169 0 0 9.951956 93 60 2445 194 ENST00000452533.2 0.060606 0.999997 SLC2A13 114134 __UNKNOWN__ __UNKNOWN__ 12 40150601 40150601 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:40150601C>A ENST00000280871.4 - 0 5224 NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) ACTGATTTCCCCTTTTAGAGT 0.289 NA HNSCC(50;0.14) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ315644 CCDS8736.2 12q12 2013-05-22 ENSG00000151229 ENSG00000151229 114134 Solute carriers 15956 protein-coding gene gene with protein product H(+)-myo-inositol symporter 611036 NA 11500374 Standard NM_052885 NA Approved HMIT uc010skm.2 Q96QE2 OTTHUMG00000059743 ENST00000280871.4:c.*3227G>T chr12.hg19:g.40150601C>A NA Q17S07 hg19 CCDS8736.2 0.02 -0.315772 TCCxCTT COVERED NOVEL SLC2A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132849.2 1 9.932257 KEEP 0 0 0 33 1147 CC 0.999998 0.818463 0 - 13 60 386 0 0 34.772464 22 60 727 95 ENST00000280871.4 0.371429 0.818465 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40929040 40929040 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:40929040A>C ENST00000454784.4 + 50 17408 Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 GTGGAAAAACAAGAGTTGAAA 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10891-7324A>C chr12.hg19:g.40929040A>C NA Q8NA85 hg19 0.02 1.836109 AACxAGA COVERED . . . . . . . . . . A 0.630 -0.817675 0.02776 . . ENSG00000205592 ENST00000424466 . . . 1.18 -0.116 0.13555 . . . . . T 0.21718 0.0523 . . . 0.09310 N 1 . . . . . . T 0.24297 -1.0164 4 . . . . 3.1653 0.06534 0.6183:0.0:0.0:0.3817 . . . . Q 203 . . K + 1 0 MUC19 39215307 0.000000 0.05858 0.003000 0.11579 0.019000 0.09904 -0.946000 0.03905 -0.046000 0.13446 0.383000 0.25322 AAG NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 3 6.917218 KEEP 0 0 0 23 679 AA 0.999892 0.991987 0 + 25 60 845 0 0 78.054871 38 60 1068 116 ENST00000454784.4 0.396825 0.992094 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40943937 40943937 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:40943937C>G ENST00000454784.4 + 0 18267 Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 AATGGTGGAACCACTGAGGCT 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.*6641C>G chr12.hg19:g.40943937C>G NA Q8NA85 hg19 0.02 2.032075 GAAxCAC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 11.48|11.48 1.652204|1.652204 0.29336|0.29336 .|. .|. ENSG00000205592|ENSG00000205592 ENST00000380816|ENST00000538912 .|. .|. .|. 2.26|2.26 1.33|1.33 0.21861|0.21861 .|. .|. .|. .|. .|. T|T 0.31295|0.31295 0.0792|0.0792 .|. .|. .|. 0.09310|0.09310 N|N 1|1 .|. .|. .|. .|. .|. .|. T|T 0.23154|0.23154 -1.0196|-1.0196 4|5 .|0.30078 .|T .|0.28 .|. 6.0348|6.0348 0.19702|0.19702 0.306:0.694:0.0:0.0|0.306:0.694:0.0:0.0 .|. .|. .|. .|. K|S 287|184 .|. .|ENSP00000440762:T184S N|T +|+ 3|2 2|0 MUC19|MUC19 39230204|39230204 0.002000|0.002000 0.14202|0.14202 0.006000|0.006000 0.13384|0.13384 0.386000|0.386000 0.30323|0.30323 0.928000|0.928000 0.28831|0.28831 0.501000|0.501000 0.28013|0.28013 0.655000|0.655000 0.94253|0.94253 AAC|ACC NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 6 9.029734 KEEP 0 0 0 30 1087 CC 0.999997 0.967422 0 + 14 60 470 0 0 40.804352 36 60 1222 117 ENST00000454784.4 0.28 0.967425 PRICKLE1 144165 __UNKNOWN__ __UNKNOWN__ 12 42926465 42926465 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:42926465T>C ENST00000445766.2 - 1 82 PRICKLE1_ENST00000552200.1_Intron|PRICKLE1_ENST00000345127.3_Intron Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606) cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) tttgggaggctgaggcgggcg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056499 CCDS8742.1 12p11-q12 2010-08-13 2006-09-12 ENSG00000139174 144165 17019 protein-coding gene gene with protein product 608500 prickle-like 1 (Drosophila) NA 12525887, 18976727 Standard NM_153026 NA Approved FLJ31937, EPM1B uc010skv.2 Q96MT3 ENST00000445766.2:c.47+57610A>G chr12.hg19:g.42926465T>C NA Q14C83|Q71QF8|Q96N00 hg19 CCDS8742.1 0.02 -0.201701 GGCxGAG COVERED NOVEL PRICKLE1-005 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404066.1 4 2.40749 KEEP 6 0 0 8 256 TT 0.99257 0.4869 0 - 4 60 138 0 0 11.269102 17 60 502 62 ENST00000445766.2 0.190476 0.490544 ANO6 196527 __UNKNOWN__ __UNKNOWN__ 12 45834098 45834098 __UNKNOWN__ 3'UTR SNP A A C rs544510989 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:45834098A>C ENST00000425752.2 + 0 3469 ANO6_ENST00000435642.1_3'UTR NM_001142679.1 NP_001136151.1 Q4KMQ2 ANO6_HUMAN anoctamin 6 NA NA activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085) cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 tctcagctcaatgcaagctct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832340 CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1 12q12-q13.11 2014-09-17 2008-08-28 2008-08-28 196527 Ion channels / Chloride channels : Calcium activated : Anoctamins 25240 protein-coding gene gene with protein product 608663 transmembrane protein 16F TMEM16F NA 15067359, 24692353 Standard XM_113743 NM_001025356 NA Approved DKFZp313M0720 uc010slf.2 Q4KMQ2 OTTHUMG00000169564 ENST00000425752.2:c.*377A>C chr12.hg19:g.45834098A>C NA A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2 hg19 CCDS44865.1 0.02 -0.149087 TCAxTGC COVERED NOVEL ANO6-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000404819.1 2 2.407026 KEEP 1 0 0 8 242 AA 0.99257 0.289832 0 + 3 51 93 0 0 7.682293 10 60 286 31 ENST00000425752.2 0.230769 0.292001 SCAF11 9169 __UNKNOWN__ __UNKNOWN__ 12 46323711 46323711 __UNKNOWN__ Intron SNP T T G rs724909 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:46323711T>G ENST00000369367.3 - 11 1075 SCAF11_ENST00000419565.2_Intron|SCAF11_ENST00000465950.1_5'UTR|SCAF11_ENST00000549162.1_Intron NM_004719.2 NP_004710.2 Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 agtcaaaaattgaaacagttt 0.343 NA T||| 2056 0.410543 0.1868 0.3718 5008 , , NA 17789 0.5407 NA 0.502 False NA ,,, NA NA NA 2504 0.5123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y11251 CCDS8748.2 12q13.11 2013-01-09 2011-01-10 2011-01-10 ENSG00000139218 ENSG00000139218 9169 RING-type (C3HC4) zinc fingers 10784 protein-coding gene gene with protein product 603668 splicing factor, arginine/serine-rich 2, interacting protein, serine/arginine-rich splicing factor 2, interacting protein SFRS2IP, SRSF2IP NA 9224939, 9447963 Standard NM_004719 NM_004719 NA Approved SIP1, SRRP129, CASP11 uc001rox.3 Q99590 OTTHUMG00000149930 ENST00000369367.3:c.842-1069A>C chr12.hg19:g.46323711T>G NA A6NEU9|A6NLW5|Q8IW59 hg19 CCDS8748.2 0.02 1.783657 AATxGAA COVERED NOVEL SCAF11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313992.2 2 12.036652 KEEP 0 0 0 40 1282 TT 1 0.996233 0 - 4 60 135 0 0 8.833013 63 60 1853 163 ENST00000369367.3 0.059701 0.996233 SCAF11 9169 __UNKNOWN__ __UNKNOWN__ 12 46363957 46363957 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:46363957A>G ENST00000395454.2 - 2 232 SCAF11_ENST00000419565.2_Intron|SCAF11_ENST00000369367.3_Intron|SCAF11_ENST00000395453.2_Intron Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 gattacaggcatgagccaccg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y11251 CCDS8748.2 12q13.11 2013-01-09 2011-01-10 2011-01-10 ENSG00000139218 ENSG00000139218 9169 RING-type (C3HC4) zinc fingers 10784 protein-coding gene gene with protein product 603668 splicing factor, arginine/serine-rich 2, interacting protein, serine/arginine-rich splicing factor 2, interacting protein SFRS2IP, SRSF2IP NA 9224939, 9447963 Standard NM_004719 NM_004719 NA Approved SIP1, SRRP129, CASP11 uc001rox.3 Q99590 OTTHUMG00000149930 ENST00000395454.2:c.21-5986T>C chr12.hg19:g.46363957A>G NA A6NEU9|A6NLW5|Q8IW59 hg19 0.02 -0.298143 GGCxTGA COVERED NOVEL SCAF11-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000313994.2 10 3.008996 KEEP 7 0 0 10 312 AA 0.992708 0.775364 0 - 3 60 94 0 0 6.468785 30 60 867 72 ENST00000395454.2 0.090909 0.78106 PCED1B 91523 __UNKNOWN__ __UNKNOWN__ 12 47629837 47629837 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:47629837C>G ENST00000546455.1 + 4 1722 c.991C>G c.(991-993)Ccc>Gcc p.P331A PCED1B_ENST00000432328.1_Missense_Mutation_p.P331A Q96HM7 PED1B_HUMAN PC-esterase domain containing 1B 331 Pro-rich. NA hydrolase activity (GO:0016787) NA CCAGGGAATGCCCCGGTTCCC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 121 127 125 NA NA NA 12 NA NA 47629837 2203 4300 6503 SO:0001583 missense BC016154 CCDS8752.1 12q13.11 2012-06-11 2012-06-11 2012-06-11 ENSG00000179715 ENSG00000179715 91523 28255 protein-coding gene gene with protein product family with sequence similarity 113, member B FAM113B NA 20056006 Standard NM_138371 NM_138371 NA Approved MGC16044 uc001rpq.3 Q96HM7 OTTHUMG00000169617 ENST00000546455.1:c.991C>G chr12.hg19:g.47629837C>G ENSP00000446688:p.Pro331Ala NA Q96B20 hg19 CCDS8752.1 0.02 5.778295 ATGxCCC COVERED . . . . . . . . . . C 13.83 2.352718 0.41700 . . ENSG00000179715 ENST00000546455;ENST00000432328 T;T 0.32272 1.46;1.46 4.23 1.35 0.21983 . 0.517985 0.16449 N 0.213966 T 0.21468 0.0517 L 0.32530 0.975 0.09310 N 1 P 0.48834 0.916 B 0.43123 0.409 T 0.10497 -1.0627 10 0.66056 D 0.02 -16.3448 5.1593 0.15053 0.3631:0.5392:0.0:0.0977 . 331 Q96HM7 F113B_HUMAN A 331 ENSP00000446688:P331A;ENSP00000396040:P331A ENSP00000396040:P331A P + 1 0 FAM113B 45916104 0.038000 0.19896 0.013000 0.15412 0.110000 0.19582 0.754000 0.26390 0.295000 0.22570 0.655000 0.94253 CCC NOVEL PCED1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405079.1 4 40.31163 KEEP 0 0 0 134 4662 CC 1 1 0 + 17 60 521 1 0 36.014062 162 60 5483 408 ENST00000546455.1 0.094972 1 SLC48A1 55652 __UNKNOWN__ __UNKNOWN__ 12 48174381 48174381 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:48174381A>G ENST00000442218.2 + 0 855 SLC48A1_ENST00000442892.2_Intron NM_017842.2 NP_060312.2 Q6P1K1 HRG1_HUMAN solute carrier family 48 (heme transporter), member 1 NA NA heme transport (GO:0015886) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764) heme transporter activity (GO:0015232) large_intestine(1)|lung(3)|urinary_tract(1) 5 atggagtcttactctgtcacc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 8 10 10 NA NA NA 12 NA NA 48174381 2164 4263 6427 SO:0001624 3_prime_UTR_variant CCDS8755.2 12q13.11 2013-05-22 ENSG00000211584 ENSG00000211584 55652 Solute carriers 26035 protein-coding gene gene with protein product 612187 NA 18418376 Standard NM_017842 NM_017842 NA Approved FLJ20489, hHRG-1, HRG1 uc001rqd.3 Q6P1K1 OTTHUMG00000156983 ENST00000442218.2:c.*317A>G chr12.hg19:g.48174381A>G NA Q9BUB3|Q9NX17 hg19 CCDS8755.2 0.02 1.918489 CTTxCTC COVERED NOVEL SLC48A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346966.1 3 8.121155 KEEP 4 0 0 27 773 AA 0.999988 0.995674 0 + 4 60 132 0 0 9.132951 44 60 1182 104 ENST00000442218.2 0.083333 0.995687 PFKM 5213 __UNKNOWN__ __UNKNOWN__ 12 48519157 48519157 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:48519157G>C ENST00000312352.7 + 2 124 PFKM_ENST00000340802.6_Intron|PFKM_ENST00000359794.5_Intron|PFKM_ENST00000551804.1_Intron|PFKM_ENST00000395233.2_Intron|PFKM_ENST00000551548.1_Intron|PFKM_ENST00000547587.1_Intron NM_001166687.1 NP_001160159.1 P08237 PFKAM_HUMAN phosphofructokinase, muscle NA NA carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281) 6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228) 6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 gtaatcccaggactttgggag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M26066 CCDS8760.1, CCDS53786.1 12q13.11 2014-06-13 5213 2.7.1.11 8877 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 122 610681 phosphofructokinase, polypeptide X PFKX NA Standard NM_000289 NM_001166686 NA Approved PFK-1, PPP1R122 uc001rrb.2 P08237 ENST00000312352.7:c.85+2515G>C chr12.hg19:g.48519157G>C NA J3KNX3|Q16814|Q16815|Q6ZTT1 hg19 CCDS8760.1 0.02 5.822017 CAGxACT COVERED NOVEL PFKM-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406490.1 29 5.625523 KEEP 1 3 107 56 1910 GG 1 1 0 + 8 60 280 0 0 18.142869 147 60 4867 361 ENST00000312352.7 0.051613 1 ZNF641 121274 __UNKNOWN__ __UNKNOWN__ 12 48734609 48734609 __UNKNOWN__ 3'UTR SNP A A G rs60908321|rs901963 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:48734609A>G ENST00000544117.2 - 0 4172 ZNF641_ENST00000301042.3_3'UTR Q96N77 ZN641_HUMAN zinc finger protein 641 NA NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 AGTAAAAGAAATGTCAGAGTC 0.418 NA G||| 3336 0.666134 0.77 0.5937 5008 , , NA 19024 0.371 NA 0.8638 False NA ,,, NA NA NA 2504 0.6779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018090 CCDS8763.1, CCDS53787.1, CCDS53788.1 12q13.11 2013-01-08 ENSG00000167528 121274 Zinc fingers, C2H2-type, - 31834 protein-coding gene gene with protein product 613906 NA Standard NM_152320 NM_152320 NA Approved FLJ31295 uc001rro.2 Q96N77 ENST00000544117.2:c.*2147T>C chr12.hg19:g.48734609A>G NA B3KS43|B4DNU5|Q8TCQ7|Q8WVE1 hg19 CCDS8763.1 0.02 -0.36834 GAAxTGT COVERED NOVEL ZNF641-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000406518.1 1 3.60993 KEEP 0 0 0 12 372 AA 0.993634 0.903281 0 - 3 60 103 0 0 7.072532 38 60 1111 68 ENST00000544117.2 0.073171 0.909069 ADCY6 112 __UNKNOWN__ __UNKNOWN__ 12 49177461 49177461 __UNKNOWN__ 5'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:49177461T>C ENST00000307885.4 - 0 451 ADCY6_ENST00000357869.3_5'UTR|ADCY6_ENST00000550422.1_Intron NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 cacagtggcttacacctgtaa 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS8767.1, CCDS8768.1 12q12-q13 2013-02-04 ENSG00000174233 112 4.6.1.1 Adenylate cyclases 237 protein-coding gene gene with protein product 600294 NA Standard NM_020983 NM_015270 NA Approved AC6 uc001rsh.4 O43306 ENST00000307885.4:c.-244A>G chr12.hg19:g.49177461T>C NA Q9NR75|Q9UDB0 hg19 CCDS8767.1 0.02 7.095554 GCTxACA COVERED NOVEL ADCY6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408863.1 36 26.112273 KEEP 0 4 141 136 4068 TT 1 1 0 - 10 60 335 1 0 20.825992 200 60 5514 516 ENST00000307885.4 0.047619 1 ADCY6 112 __UNKNOWN__ __UNKNOWN__ 12 49177485 49177485 __UNKNOWN__ 5'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:49177485T>G ENST00000307885.4 - 0 427 ADCY6_ENST00000357869.3_5'UTR|ADCY6_ENST00000550422.1_Intron NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 cagcactttgtgaggccgaga 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS8767.1, CCDS8768.1 12q12-q13 2013-02-04 ENSG00000174233 112 4.6.1.1 Adenylate cyclases 237 protein-coding gene gene with protein product 600294 NA Standard NM_020983 NM_015270 NA Approved AC6 uc001rsh.4 O43306 ENST00000307885.4:c.-268A>C chr12.hg19:g.49177485T>G NA Q9NR75|Q9UDB0 hg19 CCDS8767.1 0.02 7.531769 TTGxGAG COVERED NOVEL ADCY6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408863.1 43 10.206145 KEEP 1 8 269 128 3947 TT 1 1 0 - 19 60 648 0 0 45.942484 197 60 5826 527 ENST00000307885.4 0.087963 1 RP11-302B13.5 0 __UNKNOWN__ __UNKNOWN__ 12 49323059 49323059 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:49323059T>C ENST00000398092.4 - 4 533 CCDC65_ENST00000266984.5_Intron|AC073610.5_ENST00000537495.1_Intron NA NA NA ggcaagaccctatctctacaa 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000398092.4:c.384+10378A>G chr12.hg19:g.49323059T>C NA hg19 0.02 -0.271818 CCCxATC COVERED NOVEL RP11-302B13.5-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000473246.1 9 3.008895 KEEP 0 0 0 10 306 TT 0.992708 0.712085 0 - 3 60 97 0 0 6.945253 26 60 743 54 ENST00000398092.4 0.103448 0.717315 RHEBL1 121268 __UNKNOWN__ __UNKNOWN__ 12 49462474 49462474 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:49462474T>C ENST00000301068.6 - 2 364 NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 NA NA GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) GTP binding (GO:0005525) breast(2)|large_intestine(2)|lung(5) 9 ccgcctcagcttcccaaagtg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098663 CCDS8778.1 12q13.12 2014-05-09 ENSG00000167550 121268 21166 protein-coding gene gene with protein product NA 12477932 Standard NM_144593 NM_144593 NA Approved MGC34869, FLJ25797 uc001rtc.1 Q8TAI7 OTTHUMG00000170407 ENST00000301068.6:c.124+343A>G chr12.hg19:g.49462474T>C NA Q56VH8 hg19 CCDS8778.1 0.02 -0.114015 AGCxTCC UNCOVERED NOVEL RHEBL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408969.1 1 2.407641 KEEP 0 0 0 8 268 TT 0.99257 0.16126 0 - 3 60 105 0 0 9.279106 7 60 208 38 ENST00000301068.6 0.3 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 49667199 49667199 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:49667199T>C NA NA TUBA1C (85 upstream) : RP11-161H23.9 (19214 downstream) NA NA NA TCGagggtcttgctctgtcac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.49667199T>C NA hg19 0.02 -0.33322 TCTxGCT COVERED NOVEL 0 3 3.611093 KEEP 0 0 0 12 380 TT 0.993634 0.84656 0 3 60 99 0 0 6.776099 35 60 1028 62 0.078947 0.851984 DNAJC22 79962 __UNKNOWN__ __UNKNOWN__ 12 49745418 49745418 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:49745418T>C ENST00000549441.2 + 0 2363 DNAJC22_ENST00000552651.1_Intron|DNAJC22_ENST00000395069.3_3'UTR Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 NA NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 tggtggctcatgcctgtaatc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055747 CCDS8785.1 12q13.12 2011-09-02 2008-07-08 ENSG00000178401 ENSG00000178401 79962 Heat shock proteins / DNAJ (HSP40) 25802 protein-coding gene gene with protein product wurst homolog (Drosophila) NA 17558392 Standard NM_024902 NM_024902 NA Approved wus, FLJ13236 uc001rua.3 Q8N4W6 ENST00000549441.2:c.*133T>C chr12.hg19:g.49745418T>C NA B3KP54 hg19 CCDS8785.1 0.02 5.361645 TCAxGCC COVERED NOVEL DNAJC22-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404302.2 28 29.596886 KEEP 2 1 33 110 3421 TT 1 1 0 + 7 60 234 0 0 14.040819 165 60 4917 420 ENST00000549441.2 0.040698 1 FMNL3 91010 __UNKNOWN__ __UNKNOWN__ 12 50057771 50057771 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:50057771T>C ENST00000352151.5 - 4 581 FMNL3_ENST00000293590.5_Intron|FMNL3_ENST00000550488.1_Intron|FMNL3_ENST00000335154.5_Intron NM_198900.2 NP_944489.2 Q8IVF7 FMNL3_HUMAN formin-like 3 NA NA actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360) cytoplasm (GO:0005737) GTPase activating protein binding (GO:0032794) breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 gtggctcacatctgtaatccc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK128195 CCDS41780.1, CCDS44874.1 12q13.12 2006-04-10 91010 23698 protein-coding gene gene with protein product NA 12684686 Standard NM_175736 NM_198900 NA Approved DKFZp762B245, MGC45819, WBP3 uc001ruv.1 Q8IVF7 OTTHUMG00000169651 ENST00000352151.5:c.368+1843A>G chr12.hg19:g.50057771T>C NA B0JZA7|Q6ZRJ1 hg19 CCDS41780.1 0.02 -0.201728 ACAxCTG COVERED NOVEL FMNL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405279.2 6 2.708302 KEEP 0 0 0 9 286 TT 0.99254 0.486885 0 - 4 60 138 0 0 11.179329 18 60 534 45 ENST00000352151.5 0.181818 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 50250254 50250254 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:50250254A>G NA NA BCDIN3D (13342 upstream) : RP11-70F11.7 (4735 downstream) NA NA NA aagccaccgcacccggcccca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.50250254A>G NA hg19 0.02 -0.219238 CGCxCCC COVERED NOVEL 0 3 2.405726 KEEP 0 0 0 8 234 AA 0.99257 0.54878 0 3 60 90 0 0 6.693115 18 60 513 46 0.142857 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 50250257 50250257 __UNKNOWN__ IGR SNP C C T rs114828965 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:50250257C>T NA NA BCDIN3D (13345 upstream) : RP11-70F11.7 (4732 downstream) NA NA NA ccaccgcacccggccccaaat 0.498 NA c||| 68 0.0135783 0.0454 0.0058 5008 , , NA 17354 0 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.50250257C>T NA hg19 0.02 -0.192976 ACCxGGC COVERED NOVEL 0 2 2.407305 KEEP 0 0 0 8 265 CC 0.99257 0.454356 0 3 60 85 0 0 6.334343 16 60 525 45 0.157895 0.457757 RACGAP1 29127 __UNKNOWN__ __UNKNOWN__ 12 50370861 50370861 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:50370861G>A ENST00000548961.1 - 3 250 Rac GTPase activating protein 1 NA NA cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 tcaagaaatcggaaaatactt 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8795.1 12q13 2004-05-17 ENSG00000161800 29127 9804 protein-coding gene gene with protein product 604980 NA 9497316 Standard NM_013277 NM_013277 NA Approved MgcRacGAP uc001rvs.2 Q9H0H5 ENST00000548961.1:c.245-19C>T chr12.hg19:g.50370861G>A NA hg19 0.02 1.219186 ATCxGAA COVERED NOVEL RACGAP1-017 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000406031.2 2 15.348287 KEEP 0 0 0 51 1713 GG 1 0.999804 0 - 5 60 152 0 0 9.259489 83 60 2711 189 ENST00000548961.1 0.056818 0.999804 FAM186A 121006 __UNKNOWN__ __UNKNOWN__ 12 50720114 50720114 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:50720114T>C ENST00000543111.1 - 0 8098 FAM186A_ENST00000543096.1_3'UTR A6NE01 F186A_HUMAN family with sequence similarity 186, member A NA NA NA tggtggctcatgcctgtaatc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(138;1796 1887 12511 19463 37884) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS44878.1 12q13.13 2009-04-22 ENSG00000185958 ENSG00000185958 121006 26980 protein-coding gene gene with protein product NA Standard XM_001718353 NM_001145475 NA Approved LOC121006 uc001rwl.2 A6NE01 OTTHUMG00000167889 ENST00000543111.1:c.*914A>G chr12.hg19:g.50720114T>C NA hg19 0.02 5.263082 TCAxGCC COVERED NOVEL FAM186A-001 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000396836.1 20 10.766578 KEEP 0 1 38 49 1502 TT 1 1 0 - 8 60 248 0 0 14.569081 165 60 4781 328 ENST00000543111.1 0.046243 1 FAM186A 121006 __UNKNOWN__ __UNKNOWN__ 12 50720272 50720272 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:50720272A>G ENST00000543111.1 - 0 7940 FAM186A_ENST00000543096.1_3'UTR A6NE01 F186A_HUMAN family with sequence similarity 186, member A NA NA NA ctactcgggaagctgaggcag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(138;1796 1887 12511 19463 37884) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS44878.1 12q13.13 2009-04-22 ENSG00000185958 ENSG00000185958 121006 26980 protein-coding gene gene with protein product NA Standard XM_001718353 NM_001145475 NA Approved LOC121006 uc001rwl.2 A6NE01 OTTHUMG00000167889 ENST00000543111.1:c.*756T>C chr12.hg19:g.50720272A>G NA hg19 0.02 1.681413 GGAxGCT COVERED NOVEL FAM186A-001 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000396836.1 14 8.060756 KEEP 1 1 38 40 1286 AA 1 0.999881 0 - 5 60 151 0 0 9.328926 77 60 2290 156 ENST00000543111.1 0.060976 0.999881 FAM186A 121006 __UNKNOWN__ __UNKNOWN__ 12 50727984 50727984 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:50727984G>A ENST00000327337.5 - 5 6503 FAM186A_ENST00000543111.1_Intron|FAM186A_ENST00000543096.1_Intron NM_001145475.1 NP_001138947.1 A6NE01 F186A_HUMAN family with sequence similarity 186, member A NA NA NA acggagtttcgatcttgttgc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(138;1796 1887 12511 19463 37884) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS44878.1 12q13.13 2009-04-22 ENSG00000185958 ENSG00000185958 121006 26980 protein-coding gene gene with protein product NA Standard XM_001718353 NM_001145475 NA Approved LOC121006 uc001rwl.2 A6NE01 OTTHUMG00000167889 ENST00000327337.5:c.6504-98C>T chr12.hg19:g.50727984G>A NA hg19 CCDS44878.1 0.02 -0.105243 TTCxATC UNCOVERED NOVEL FAM186A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396838.1 6 2.40721 KEEP 0 0 0 8 255 GG 0.99257 0.138793 0 - 4 60 107 1 0 9.92096 5 60 164 26 ENST00000327337.5 0.444444 0.139832 FAM186A 121006 __UNKNOWN__ __UNKNOWN__ 12 50747102 50747102 __UNKNOWN__ Silent SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:50747102A>G ENST00000327337.5 - 4 3512 c.3513T>C c.(3511-3513)ctT>ctC p.L1171L FAM186A_ENST00000543111.1_Silent_p.L1171L NM_001145475.1 NP_001138947.1 A6NE01 F186A_HUMAN family with sequence similarity 186, member A 1171 NA p.L1171L(2) NA GCTGAGGGGTAAGAGGGATCC 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(138;1796 1887 12511 19463 37884) NA 2 Substitution - coding silent(2) endometrium(2) 28 25 26 NA NA NA 12 NA NA 50747102 692 1591 2283 SO:0001819 synonymous_variant CCDS44878.1 12q13.13 2009-04-22 ENSG00000185958 ENSG00000185958 121006 26980 protein-coding gene gene with protein product NA Standard XM_001718353 NM_001145475 NA Approved LOC121006 uc001rwl.2 A6NE01 OTTHUMG00000167889 ENST00000327337.5:c.3513T>C chr12.hg19:g.50747102A>G NA hg19 CCDS44878.1 0.02 4.850956 GGTxAGA COVERED NOVEL FAM186A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396838.1 1 9.561383 KEEP 2 3 100 67 1901 AA 1 1 0 - 7 29 226 0 0 13.469055 153 60 3983 324 ENST00000327337.5 0.04375 1 LARP4 113251 __UNKNOWN__ __UNKNOWN__ 12 50873118 50873118 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:50873118C>T ENST00000398473.2 + 0 5758 LARP4_ENST00000293618.8_3'UTR NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 NA NA cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604) membrane (GO:0016020) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 TGTATTCCTTCTGAGGGGCTT 0.254 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY004310 CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1 12q13.12 2005-08-09 ENSG00000161813 ENSG00000161813 113251 La ribonucleoprotein domain containing 24320 protein-coding gene gene with protein product NA 12477932 Standard NM_052879 NM_052879 NA Approved PP13296 uc001rwp.2 Q71RC2 OTTHUMG00000163724 ENST00000398473.2:c.*3471C>T chr12.hg19:g.50873118C>T NA A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9 hg19 CCDS41782.1 0.02 1.616536 CTTxTGA COVERED NOVEL LARP4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000374981.1 0 10.702331 KEEP 0 2 67 59 2054 CC 1 0.973965 0 + 7 40 214 0 0 15.698985 47 60 1610 149 ENST00000398473.2 0.12963 0.973965 ATF1 466 __UNKNOWN__ __UNKNOWN__ 12 51164977 51164977 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51164977T>C ENST00000262053.3 + 1 16 ATF1_ENST00000539132.1_Intron NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 NA NA cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700) EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 Pseudoephedrine(DB00852) ttagtagagatagggtttcac 0.517 NA T EWSR1, FUS malignant melanoma of soft parts , angiomatoid fibrous histiocytoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 12 12q13 466 activating transcription factor 1 E, M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029619 CCDS8803.1 12q13 2014-05-13 ENSG00000123268 ENSG00000123268 466 basic leucine zipper proteins 783 protein-coding gene gene with protein product 123803 NA 8401579 Standard NM_005171 NM_005171 NA Approved TREB36 uc001rww.4 P18846 ENST00000262053.3:c.-7+6887T>C chr12.hg19:g.51164977T>C NA B4DRF9|P25168|Q9H4A8 hg19 CCDS8803.1 0.02 -0.253553 AGAxAGG COVERED NOVEL ATF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404285.1 7 4.20411 KEEP 0 0 0 14 402 TT 0.995343 0.66541 0 + 3 60 105 1 0 7.842567 24 60 663 64 ENST00000262053.3 0.111111 0.668523 TMPRSS12 283471 __UNKNOWN__ __UNKNOWN__ 12 51279473 51279473 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51279473T>C ENST00000398458.3 + 4 827 TMPRSS12_ENST00000551456.1_3'UTR NM_182559.2 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 NA NA integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 tagtctcgctttgtcacccat 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC048112 CCDS44881.1 12q13.12 2014-08-12 2010-04-21 ENSG00000186452 ENSG00000186452 283471 Serine peptidases / Transmembrane 28779 protein-coding gene gene with protein product transmembrane protease, serine 12 NA Standard NM_182559 NM_182559 NA Approved MGC57341, CT151 uc001rwx.4 Q86WS5 OTTHUMG00000169483 ENST00000398458.3:c.795+302T>C chr12.hg19:g.51279473T>C NA B9ZVX2 hg19 CCDS44881.1 0.02 3.370737 GCTxTGT COVERED NOVEL TMPRSS12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404289.1 14 13.551743 KEEP 0 1 37 58 1735 TT 1 0.999997 0 + 7 60 207 0 0 13.010488 94 60 2681 212 ENST00000398458.3 0.069307 0.999997 TMPRSS12 283471 __UNKNOWN__ __UNKNOWN__ 12 51279483 51279483 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51279483T>G ENST00000398458.3 + 4 827 TMPRSS12_ENST00000551456.1_3'UTR NM_182559.2 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 NA NA integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 ttgtcacccatgctggagtgc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC048112 CCDS44881.1 12q13.12 2014-08-12 2010-04-21 ENSG00000186452 ENSG00000186452 283471 Serine peptidases / Transmembrane 28779 protein-coding gene gene with protein product transmembrane protease, serine 12 NA Standard NM_182559 NM_182559 NA Approved MGC57341, CT151 uc001rwx.4 Q86WS5 OTTHUMG00000169483 ENST00000398458.3:c.795+312T>G chr12.hg19:g.51279483T>G NA B9ZVX2 hg19 CCDS44881.1 0.02 3.256846 CCAxGCT COVERED NOVEL TMPRSS12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404289.1 15 16.878462 KEEP 0 1 25 65 1940 TT 1 1 0 + 8 60 236 0 0 14.921558 104 60 2969 235 ENST00000398458.3 0.071429 1 METTL7A 25840 __UNKNOWN__ __UNKNOWN__ 12 51324172 51324172 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51324172T>C ENST00000548553.1 + 0 1955 METTL7A_ENST00000332160.4_3'UTR Q9H8H3 MET7A_HUMAN methyltransferase like 7A NA NA endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020) methyltransferase activity (GO:0008168) endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 aagcgattcttctgcctcagc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8804.1 12q13.12 2013-06-20 ENSG00000185432 ENSG00000185432 25840 24550 protein-coding gene gene with protein product NA 12975309 Standard NM_014033 XM_006719332 NA Approved DKFZP586A0522 uc001rxb.3 Q9H8H3 OTTHUMG00000169484 ENST00000548553.1:c.*239T>C chr12.hg19:g.51324172T>C NA Q9H7R3|Q9UHZ7|Q9Y422 hg19 CCDS8804.1 0.02 -0.289432 TCTxCTG COVERED NOVEL METTL7A-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404294.2 2 6.019103 KEEP 0 0 0 20 664 TT 0.999863 0.760782 0 + 3 60 91 0 0 6.300032 27 60 810 54 ENST00000548553.1 0.1 0.760887 SLC11A2 4891 __UNKNOWN__ __UNKNOWN__ 12 51405623 51405623 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51405623A>G ENST00000547688.1 - 3 291 SLC11A2_ENST00000394904.3_Intron|SLC11A2_ENST00000546743.1_Intron|SLC11A2_ENST00000262052.5_Intron|SLC11A2_ENST00000541174.2_Intron|SLC11A2_ENST00000547198.1_Intron|SLC11A2_ENST00000262051.7_Intron P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773) cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385) breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 gattacaggcatgagccacca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB015355 CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1 12q13 2013-07-18 2013-07-18 ENSG00000110911 ENSG00000110911 4891 Solute carriers 10908 protein-coding gene gene with protein product 600523 NRAMP2 NA 7613023 Standard NM_000617 NA Approved DCT1, DMT1 uc001rxk.2 P49281 OTTHUMG00000169493 ENST00000547688.1:c.50-1074T>C chr12.hg19:g.51405623A>G NA B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35 hg19 CCDS53793.1 0.02 -0.25369 GGCxTGA COVERED NOVEL SLC11A2-001 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000404388.1 6 3.309513 KEEP 0 0 0 11 331 AA 0.993072 0.663892 0 - 3 60 102 0 0 7.710056 21 60 581 58 ENST00000547688.1 0.125 0.668523 BIN2 51411 __UNKNOWN__ __UNKNOWN__ 12 51677525 51677525 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51677525C>T ENST00000267012.4 - 12 1730 BIN2_ENST00000544402.1_Intron|BIN2_ENST00000604560.1_Intron|BIN2_ENST00000452142.2_Intron NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 NA NA cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102) phospholipid binding (GO:0005543) NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 ccgcctgtaaccccagcactt 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF146531 CCDS8811.1 12q13.13 2012-01-23 ENSG00000110934 ENSG00000110934 51411 1053 protein-coding gene gene with protein product 605936 NA 10903846 Standard XM_005268957 NA Approved BRAP-1 uc001ryg.3 Q9UBW5 ENST00000267012.4:c.1668+974G>A chr12.hg19:g.51677525C>T NA Q86VV0|Q9NWK4|Q9UKN4 hg19 CCDS8811.1 0.02 -0.192905 TAAxCCC COVERED NOVEL BIN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000469800.1 5 2.708434 KEEP 0 0 0 9 309 CC 0.99254 0.486885 0 - 3 60 92 0 0 6.961745 17 60 545 45 ENST00000267012.4 0.15 0.490544 BIN2 51411 __UNKNOWN__ __UNKNOWN__ 12 51693661 51693661 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51693661T>C ENST00000267012.4 - 6 470 BIN2_ENST00000544402.1_Intron|BIN2_ENST00000604560.1_Intron|BIN2_ENST00000452142.2_Intron NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 NA NA cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102) phospholipid binding (GO:0005543) NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 cttgctctgttgcccaggctg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF146531 CCDS8811.1 12q13.13 2012-01-23 ENSG00000110934 ENSG00000110934 51411 1053 protein-coding gene gene with protein product 605936 NA 10903846 Standard XM_005268957 NA Approved BRAP-1 uc001ryg.3 Q9UBW5 ENST00000267012.4:c.409-163A>G chr12.hg19:g.51693661T>C NA Q86VV0|Q9NWK4|Q9UKN4 hg19 CCDS8811.1 0.02 -0.219274 TGTxGCC COVERED NOVEL BIN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000469800.1 4 2.407503 KEEP 1 0 0 8 257 TT 0.99257 0.54878 0 - 4 60 128 0 0 10.268985 17 60 511 44 ENST00000267012.4 0.190476 0.552887 GALNT6 11226 __UNKNOWN__ __UNKNOWN__ 12 51752345 51752345 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51752345T>A ENST00000543196.2 - 8 1574 GALNT6_ENST00000356317.3_Intron Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 tcggcctccctaagtgctggg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y08565 CCDS8813.1 12q13 2014-03-13 2014-03-13 ENSG00000139629 ENSG00000139629 11226 Glycosyltransferase family 2 domain containing 4128 protein-coding gene gene with protein product polypeptide GalNAc transferase 6 605148 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) NA 10464263 Standard NM_007210 NM_007210 NA Approved GalNAc-T6 uc001ryl.1 Q8NCL4 ENST00000543196.2:c.1369-300A>T chr12.hg19:g.51752345T>A NA Q8IYH4|Q9H6G2|Q9UIV5 hg19 CCDS8813.1 0.02 -0.13155 CCCxAAG COVERED NOVEL GALNT6-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000469735.1 4 3.009137 KEEP 1 0 0 10 312 TT 0.992708 0.259062 0 - 3 60 89 0 0 7.173225 11 60 321 41 ENST00000543196.2 0.214286 0.260965 SLC4A8 9498 __UNKNOWN__ __UNKNOWN__ 12 51873922 51873922 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51873922C>A ENST00000453097.2 + 16 2389 SLC4A8_ENST00000358657.3_Intron|SLC4A8_ENST00000514353.3_Silent_p.S720S|SLC4A8_ENST00000394856.1_Silent_p.S720S NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 solute carrier family 4, sodium bicarbonate cotransporter, member 8 NA NA NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) acggggtttccccatgttggc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018282 CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1 12q13.13 2013-05-22 ENSG00000050438 ENSG00000050438 9498 Solute carriers 11034 protein-coding gene gene with protein product 605024 NA 11133997 Standard NM_004858 NM_001039960 NA Approved NBC3 uc001rys.2 Q2Y0W8 OTTHUMG00000169489 ENST00000453097.2:c.2172+4932C>A chr12.hg19:g.51873922C>A NA hg19 CCDS44890.1 0.02 1.210445 TTCxCCA COVERED NOVEL SLC4A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404356.1 4 6.955772 KEEP 0 1 31 34 1124 CC 0.999999 0.999894 0 + 6 60 162 0 0 9.828591 74 60 2413 147 ENST00000453097.2 0.075 0.999895 SLC4A8 9498 __UNKNOWN__ __UNKNOWN__ 12 51873937 51873937 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:51873937A>C ENST00000453097.2 + 16 2389 SLC4A8_ENST00000358657.3_Intron|SLC4A8_ENST00000514353.3_Silent_p.G725G|SLC4A8_ENST00000394856.1_Silent_p.G725G NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 solute carrier family 4, sodium bicarbonate cotransporter, member 8 NA NA NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) gttggccaggatggtctcaat 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018282 CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1 12q13.13 2013-05-22 ENSG00000050438 ENSG00000050438 9498 Solute carriers 11034 protein-coding gene gene with protein product 605024 NA 11133997 Standard NM_004858 NM_001039960 NA Approved NBC3 uc001rys.2 Q2Y0W8 OTTHUMG00000169489 ENST00000453097.2:c.2172+4947A>C chr12.hg19:g.51873937A>C NA hg19 CCDS44890.1 0.02 3.871847 AGGxTGG COVERED NOVEL SLC4A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404356.1 13 6.820772 KEEP 1 3 92 55 1703 AA 1 1 0 + 5 60 181 0 0 11.597489 108 60 3186 243 ENST00000453097.2 0.044248 1 SCN8A 6334 __UNKNOWN__ __UNKNOWN__ 12 52056635 52056635 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:52056635G>C ENST00000354534.6 + 2 212 c.34G>C c.(34-36)Gat>Cat p.D12H SCN8A_ENST00000545061.1_Missense_Mutation_p.D12H|SCN8A_ENST00000550891.1_Missense_Mutation_p.D12H NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 12 NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018) ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Valproic Acid(DB00313) ACCAGGCCCTGATAGTTTCAA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 115 114 114 NA NA NA 12 NA NA 52056635 2029 4207 6236 SO:0001583 missense AB027567 CCDS44891.1, CCDS53794.1 12q13.1 2012-02-26 2007-01-23 ENSG00000196876 6334 Sodium channels, Voltage-gated ion channels / Sodium channels 10596 protein-coding gene gene with protein product 600702 sodium channel, voltage gated, type VIII, alpha polypeptide MED NA 7670495, 9828131, 16382098 Standard NM_014191 NM_014191 NA Approved Nav1.6, NaCh6, PN4, CerIII uc001ryw.4 Q9UQD0 ENST00000354534.6:c.34G>C chr12.hg19:g.52056635G>C ENSP00000346534:p.Asp12His NA B9VWG8|O95788|Q9NYX2|Q9UPB2 hg19 CCDS44891.1 0.02 6.131417 CCTxATA COVERED . . . . . . . . . . G 22.4 4.290073 0.80914 . . ENSG00000196876 ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133 D;D;D;D 0.96334 -3.94;-3.98;-3.95;-3.81 4.97 4.97 0.65823 . . . . . D 0.96494 0.8856 M 0.76002 2.32 0.80722 D 1 P 0.50710 0.938 P 0.46659 0.523 D 0.97140 0.9824 9 0.87932 D 0 . 18.7994 0.92010 0.0:0.0:1.0:0.0 . 12 Q9UQD0 SCN8A_HUMAN H 12 ENSP00000448415:D12H;ENSP00000346534:D12H;ENSP00000440360:D12H;ENSP00000347255:D12H ENSP00000346534:D12H D + 1 0 SCN8A 50342902 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 6.427000 0.73378 2.760000 0.94817 0.655000 0.94253 GAT NOVEL SCN8A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404372.3 3 42.738644 KEEP 0 0 0 142 5053 GG 1 1 0 + 50 60 1672 0 0 149.241571 102 60 3457 378 ENST00000354534.6 0.328947 1 RP11-923I11.4 0 __UNKNOWN__ __UNKNOWN__ 12 52225649 52225649 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:52225649A>G ENST00000567167.1 + 0 846 NA NA NA ttttgagacaaggtcttgctc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000567167.1: chr12.hg19:g.52225649A>G NA hg19 0.02 -0.35953 ACAxGGT COVERED NOVEL RP11-923I11.4-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000421347.1 2 2.40735 KEEP 0 0 0 8 256 AA 0.99257 0.892632 0 + 3 60 97 0 0 6.506939 37 60 1063 61 ENST00000567167.1 0.075 0.899314 KRT86 3892 __UNKNOWN__ __UNKNOWN__ 12 52664105 52664105 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:52664105T>C ENST00000544024.1 + 1 129 O43790 KRT86_HUMAN keratin 86 NA NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) ggtggatcacttgaggtcagg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99142 CCDS41785.1 12q13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170442 3892 -, Intermediate filaments type II, keratins (basic) 6463 protein-coding gene gene with protein product hard keratin type II 6 601928 keratin, hair, basic, 6 (monilethrix) KRTHB6 NA 9241275, 16831889 Standard NM_002284 NM_002284 NA Approved MNX, Hb6 uc001sad.3 O43790 ENST00000544024.1:c.-5+20893T>C chr12.hg19:g.52664105T>C NA P78387 hg19 CCDS41785.1 0.02 -0.289417 CACxTGA COVERED NOVEL KRT86-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 17 3.611184 KEEP 9 0 0 12 389 TT 0.99254 0.755211 0 + 3 60 97 0 1 6.90032 27 60 813 70 ENST00000544024.1 0.1 0.760887 KRT86 3892 __UNKNOWN__ __UNKNOWN__ 12 52699033 52699033 __UNKNOWN__ Missense_Mutation SNP G G A rs61914259 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:52699033G>A ENST00000423955.2 + 7 923 c.745G>A c.(745-747)Gtt>Att p.V249I KRT86_ENST00000293525.5_Missense_Mutation_p.V249I|KRT86_ENST00000544024.1_Missense_Mutation_p.V249I O43790 KRT86_HUMAN keratin 86 249 Coil 1B.|Rod. NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) GGAGATCCGCGTTCTCCAGTC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 146 126 133 NA NA NA 12 NA NA 52699033 2203 4300 6503 SO:0001583 missense X99142 CCDS41785.1 12q13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170442 3892 -, Intermediate filaments type II, keratins (basic) 6463 protein-coding gene gene with protein product hard keratin type II 6 601928 keratin, hair, basic, 6 (monilethrix) KRTHB6 NA 9241275, 16831889 Standard NM_002284 NM_002284 NA Approved MNX, Hb6 uc001sad.3 O43790 ENST00000423955.2:c.745G>A chr12.hg19:g.52699033G>A ENSP00000444533:p.Val249Ile NA P78387 hg19 CCDS41785.1 0.02 2.631003 CGCxTTC COVERED . . . . . . . . . . G 9.579 1.123100 0.20959 . . ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832 ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310 D;D;D 0.88741 -2.42;-2.42;-2.42 4.69 0.639 0.17747 Filament (1); 0.200519 0.24003 N 0.042444 T 0.79545 0.4464 L 0.39566 1.225 0.09310 N 1 B 0.10296 0.003 B 0.13407 0.009 T 0.61019 -0.7147 10 0.19147 T 0.46 . 5.6128 0.17414 0.3148:0.1288:0.5563:0.0 rs61914259 249 O43790 KRT86_HUMAN I 249 ENSP00000443169:V249I;ENSP00000444533:V249I;ENSP00000293525:V249I ENSP00000293525:V249I V + 1 0 AC021066.1;KRT86 50985300 0.534000 0.26362 0.012000 0.15200 0.332000 0.28634 2.299000 0.43611 0.091000 0.17302 -0.317000 0.08691 GTT NOVEL KRT86-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404911.1 2 9.027819 KEEP 7 0 0 30 992 GG 0.999997 0.999989 0 + 10 27 282 0 0 18.561107 97 60 3109 201 ENST00000423955.2 0.093458 0.999992 KRT6B 3854 __UNKNOWN__ __UNKNOWN__ 12 52841672 52841672 __UNKNOWN__ Silent SNP C C T rs142297644 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:52841672C>T ENST00000252252.3 - 7 1361 c.1314G>A c.(1312-1314)aaG>aaA p.K438K NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 438 Coil 2.|Rod. NA ectoderm development (GO:0007398) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CCAGGTCCTGCTTGGCCTTCT 0.617 NA C||| 47 0.00938498 0.0129 0.0144 5008 , , NA 20875 0.003 NA 0.0099 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 101 94 96 NA NA NA 12 NA NA 52841672 2203 4298 6501 SO:0001819 synonymous_variant BC034535 CCDS8828.1 12q13.13 2013-01-16 2004-08-11 ENSG00000185479 ENSG00000185479 3854 -, Intermediate filaments type II, keratins (basic) 6444 protein-coding gene gene with protein product 148042 keratin-like 1 (a type II keratin sequence) KRTL1 NA 1713141, 16831889 Standard NM_005555 NM_005555 NA Approved uc001sak.3 P04259 OTTHUMG00000169593 ENST00000252252.3:c.1314G>A chr12.hg19:g.52841672C>T NA P48669 hg19 CCDS8828.1 0.02 2.859556 CTGxTTG COVERED NOVEL KRT6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404969.1 3 8.632985 KEEP 9 3 95 62 2226 CC 1 1 0 - 6 42 185 0 0 10.87863 121 51 4136 270 ENST00000252252.3 0.047244 1 IGFBP6 3489 __UNKNOWN__ __UNKNOWN__ 12 53491443 53491443 __UNKNOWN__ 5'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:53491443C>A ENST00000548547.1 + 0 224 IGFBP6_ENST00000301464.3_5'UTR P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 NA NA cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 GGGGCGGCGGCGGGCAGCAGC 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(83;1656 1718 30141 34380) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS8846.1 12q13 2008-07-28 ENSG00000167779 3489 5475 protein-coding gene gene with protein product 146735 NA 1850258, 10087296 Standard NM_002178 NA Approved uc001sbu.1 P24592 OTTHUMG00000169773 ENST00000548547.1:c.-59C>A chr12.hg19:g.53491443C>A NA Q14492 hg19 0.02 2.925248 CGGxGGG COVERED NOVEL IGFBP6-004 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000405812.1 0 18.657327 KEEP 0 0 0 62 2094 CC 1 1 0 + 20 60 577 0 0 42.884685 112 60 3687 269 ENST00000548547.1 0.151515 1 ZNF740 283337 __UNKNOWN__ __UNKNOWN__ 12 53581268 53581268 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:53581268C>A ENST00000416904.3 + 7 937 NM_001004304.3 NP_001004304.1 Q8NDX6 ZN740_HUMAN zinc finger protein 740 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) haematopoietic_and_lymphoid_tissue(1)|kidney(2) 3 GGCACTTAACCCTCCCTTTCT 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 58 62 61 NA NA NA 12 NA NA 53581268 2087 4221 6308 SO:0001627 intron_variant BC053557 CCDS44896.1 12q13.13 2013-01-08 ENSG00000139651 283337 Zinc fingers, C2H2-type 27465 protein-coding gene gene with protein product NA Standard NM_001004304 NM_001004304 NA Approved Zfp740 uc001scb.4 Q8NDX6 ENST00000416904.3:c.493-17C>A chr12.hg19:g.53581268C>A NA A8K9M9 hg19 CCDS44896.1 0.02 4.680595 AACxCTC COVERED NOVEL ZNF740-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406890.2 6 59.248791 KEEP 0 2 42 212 7207 CC 1 1 0 + 63 60 1824 0 0 164.172547 105 60 3456 521 ENST00000416904.3 0.375 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 53648316 53648316 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:53648316T>C NA NA MFSD5 (127 upstream) : ESPL1 (13766 downstream) NA NA NA gacggagtcttgctctgtcgc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.53648316T>C NA hg19 0.02 -0.30696 TCTxGCT COVERED NOVEL 0 7 2.70837 KEEP 0 0 0 9 286 TT 0.99254 0.794276 0 3 60 97 0 0 6.898383 27 60 801 52 0.1 0.800245 PCBP2 5094 __UNKNOWN__ __UNKNOWN__ 12 53853760 53853760 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:53853760T>C ENST00000546463.1 + 6 502 PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000552296.2_Intron|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000439930.3_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000541275.1_Intron|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359462.5_Intron|PCBP2_ENST00000603815.1_Intron|PCBP2_ENST00000447282.1_Intron Q15366 PCBP2_HUMAN poly(rC) binding protein 2 NA NA defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 ccaggctggtttcgaactcct 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035420 CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1 12q13.13 2013-10-30 2001-11-28 ENSG00000197111 ENSG00000197111 5094 8648 protein-coding gene gene with protein product heterogenous nuclear ribonucleoprotein E2 601210 poly(rC)-binding protein 2 NA 8833161 Standard NM_005016 NM_001098620 NA Approved HNRPE2, hnRNP-E2, HNRNPE2 uc001sdc.4 Q15366 OTTHUMG00000169439 ENST00000546463.1:c.375+573T>C chr12.hg19:g.53853760T>C NA A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5 hg19 CCDS8859.1 0.02 1.953335 GGTxTCG COVERED NOVEL PCBP2-028 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000408111.1 8 7.852036 KEEP 0 1 34 38 1206 TT 1 0.989542 0 + 4 60 130 0 0 8.65668 52 60 1499 126 ENST00000546463.1 0.071429 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 54074036 54074036 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:54074036T>C NA NA ATP5G2 (2854 upstream) : CALCOCO1 (30866 downstream) NA NA NA tcccaaagtgttgggattaca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.54074036T>C NA hg19 0.02 -0.280422 GTGxTGG COVERED NOVEL 0 7 2.407203 KEEP 0 0 0 8 252 TT 0.99257 0.734176 0 3 60 97 0 0 7.267609 20 60 566 59 0.130435 0.739671 CBX5 23468 __UNKNOWN__ __UNKNOWN__ 12 54634293 54634293 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:54634293T>G ENST00000209875.4 - 0 1958 NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 NA NA blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032) chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 ttacaggcggtagccactgtg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(153;588 2459 18334 48613) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U26311 CCDS8875.1 12q13.13 2010-07-06 2010-06-24 ENSG00000094916 ENSG00000094916 23468 1555 protein-coding gene gene with protein product HP1 alpha homolog (Drosophila) 604478 chromobox homolog 5 (Drosophila HP1 alpha), chromobox homolog 5 (HP1 alpha homolog, Drosophila) NA 8663349 Standard NM_012117 NM_012117 NA Approved HP1Hs-alpha, HP1, HP1-ALPHA uc001sfj.4 P45973 ENST00000209875.4:c.*1246A>C chr12.hg19:g.54634293T>G NA B2R8T9 hg19 CCDS8875.1 0.02 1.783587 CGGxAGC COVERED NOVEL CBX5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405467.1 14 3.444484 KEEP 1 1 36 24 719 TT 0.999931 0.996655 0 - 5 60 160 0 0 10.999923 53 60 1460 134 ENST00000209875.4 0.086207 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 55523441 55523441 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:55523441C>T NA NA NEUROD4 (99643 upstream) : OR9K2 (23 downstream) NA NA NA TCTTTGGTTTCAACAGCAATT 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.55523441C>T NA hg19 0.02 -0.394696 TTTxAAC COVERED NOVEL 0 0 10.533769 KEEP 0 0 0 35 1216 CC 0.999999 0.926639 0 18 60 509 0 0 46.786618 25 60 844 121 0.418605 0.92664 RDH5 5959 __UNKNOWN__ __UNKNOWN__ 12 56116403 56116403 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56116403C>T ENST00000257895.5 + 3 721 RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Intron|RDH5_ENST00000547072.1_Intron NM_001199771.1|NM_002905.3 NP_001186700.1|NP_002896.2 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis/9-cis) NA NA phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) retinol dehydrogenase activity (GO:0004745) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1) 12 Vitamin A(DB00162) cactgcaacccctgcctctca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U89717 CCDS31829.1 12q13-q14 2013-06-03 2006-05-09 ENSG00000135437 5959 1.1.1.105 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 9940 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 9C, member 5 601617 retinol dehydrogenase 5 (11-cis and 9-cis) RDH1 NA 9115228, 8884265, 19027726 Standard NM_002905 NM_002905 NA Approved HSD17B9, SDR9C5 uc001shl.3 Q92781 OTTHUMG00000170126 ENST00000257895.5:c.569+672C>T chr12.hg19:g.56116403C>T NA O00179|Q8TAI2 hg19 CCDS31829.1 0.02 1.501096 ACCxCTG COVERED NOVEL RDH5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407493.1 3 3.30977 KEEP 0 0 0 11 352 CC 0.993072 0.972741 0 + 6 60 167 0 0 11.609962 44 60 1347 76 ENST00000257895.5 0.12 0.979526 RP11-762I7.5 0 __UNKNOWN__ __UNKNOWN__ 12 56215368 56215368 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56215368T>C ENST00000546837.1 - 6 973 DNAJC14_ENST00000317269.3_3'UTR|ORMDL2_ENST00000243045.5_3'UTR|DNAJC14_ENST00000357606.3_3'UTR|RP11-762I7.5_ENST00000552719.1_Intron NA NA NA cacagtggcttatgcctgtaa 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000546837.1:c.973+416A>G chr12.hg19:g.56215368T>C NA hg19 0.02 1.629142 GCTxATG COVERED NOVEL RP11-762I7.5-001 PUTATIVE mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000409202.1 10 3.545334 KEEP 0 1 35 24 741 TT 0.999931 0.999887 0 - 5 60 164 0 0 10.483895 82 60 2252 153 ENST00000546837.1 0.057471 0.999956 RP11-762I7.5 0 __UNKNOWN__ __UNKNOWN__ 12 56215635 56215635 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56215635A>G ENST00000546837.1 - 6 973 DNAJC14_ENST00000317269.3_3'UTR|DNAJC14_ENST00000317287.5_3'UTR|ORMDL2_ENST00000243045.5_3'UTR|DNAJC14_ENST00000357606.3_3'UTR|RP11-762I7.5_ENST00000552719.1_Intron NA NA NA gcaagactccatctcaaaaaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000546837.1:c.973+149T>C chr12.hg19:g.56215635A>G NA hg19 0.02 3.838859 TCCxTCT COVERED NOVEL RP11-762I7.5-001 PUTATIVE mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000409202.1 30 12.336058 KEEP 0 0 0 41 1274 AA 1 0.999991 0 - 5 60 173 1 0 11.279177 86 60 2553 201 ENST00000546837.1 0.054945 0.999991 RP11-762I7.5 0 __UNKNOWN__ __UNKNOWN__ 12 56220968 56220968 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56220968A>C ENST00000546837.1 - 1 295 DNAJC14_ENST00000317269.3_Intron|DNAJC14_ENST00000317287.5_Intron|DNAJC14_ENST00000357606.3_Intron NA NA NA gagcgagactacatctcaaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000546837.1:c.295+67T>G chr12.hg19:g.56220968A>C NA hg19 0.02 1.488289 ACTxCAT COVERED NOVEL RP11-762I7.5-001 PUTATIVE mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000409202.1 9 4.847486 KEEP 1 1 34 28 841 AA 0.999997 0.999314 0 - 5 60 164 0 0 11.279272 56 60 1511 133 ENST00000546837.1 0.081967 0.999317 RAB5B 5869 __UNKNOWN__ __UNKNOWN__ 12 56380984 56380984 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56380984A>G ENST00000448789.2 + 2 294 RAB5B_ENST00000360299.5_Intron|RAB5B_ENST00000553116.1_Intron NM_001252037.1 NP_001238966.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family NA NA antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264) endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924) endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) ttgctctgttacccaggctgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8900.1, CCDS58244.1 12q13 2008-07-30 5869 RAB, member RAS oncogene 9784 protein-coding gene gene with protein product 179514 NA 1541686, 10403367 Standard NM_001252037 NA Approved uc001siw.3 P61020 ENST00000448789.2:c.163+77A>G chr12.hg19:g.56380984A>G NA A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2 hg19 CCDS58244.1 0.02 -0.35058 GTTxCCC COVERED NOVEL RAB5B-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000405402.1 6 6.315461 KEEP 2 0 0 21 583 AA 0.999869 0.877593 0 + 4 60 135 2 1 10.234716 27 70 700 87 ENST00000448789.2 0.129032 0.877708 ERBB3 2065 __UNKNOWN__ __UNKNOWN__ 12 56496501 56496501 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56496501T>C ENST00000267101.3 + 0 5131 RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_3'UTR|ERBB3_ENST00000553131.1_3'UTR NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 NA NA cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) gcctgtaatctcagcactttg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M34309 CCDS31833.1, CCDS44918.1 12q13 2013-07-09 2013-07-09 ENSG00000065361 2065 3431 protein-coding gene gene with protein product 190151 lethal congenital contracture syndrome 2 LCCS2 NA Standard NM_001982 NA Approved HER3 uc001sjh.3 P21860 OTTHUMG00000170140 ENST00000267101.3:c.*662T>C chr12.hg19:g.56496501T>C NA A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7 hg19 CCDS31833.1 0.02 5.542974 ATCxCAG COVERED NOVEL ERBB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407619.3 27 6.501527 KEEP 0 3 89 53 1636 TT 1 1 0 + 8 60 273 0 0 17.833487 131 60 3910 297 ENST00000267101.3 0.057554 1 PA2G4 5036 __UNKNOWN__ __UNKNOWN__ 12 56506496 56506496 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56506496A>G ENST00000303305.6 + 13 1538 PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa NA NA cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) tccagcctggaaaacagagtg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U59435, BC007561 CCDS8902.1 12q13.2 2008-09-05 2002-08-29 ENSG00000170515 ENSG00000170515 5036 8550 protein-coding gene gene with protein product 602145 proliferation-associated 2G4, 38kD NA 9345902 Standard NM_006191 NM_006191 NA Approved uc001sjm.3 Q9UQ80 OTTHUMG00000170173 ENST00000303305.6:c.1120-111A>G chr12.hg19:g.56506496A>G NA O43846|Q9UM59 hg19 CCDS8902.1 0.02 1.766369 TGGxAAA COVERED NOVEL PA2G4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407767.1 13 2.379792 KEEP 0 2 78 35 1127 AA 1 0.997163 0 + 5 60 168 1 0 11.606645 58 60 1688 149 ENST00000303305.6 0.079365 0.997163 TIMELESS 8914 __UNKNOWN__ __UNKNOWN__ 12 56829481 56829481 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56829481T>C ENST00000553532.1 - 2 90 TIMELESS_ENST00000229201.4_Intron|TIMELESS_ENST00000554616.1_Intron timeless circadian clock NA NA NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 cggtggctcatgcctgtaatc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF098162 CCDS8918.1 12q13.3 2012-12-14 2012-12-14 ENSG00000111602 ENSG00000111602 8914 11813 protein-coding gene gene with protein product Tof1 homolog (S. cerevisiae), timeless circadian clock 1 603887 timeless (Drosophila) homolog, timeless homolog (Drosophila) NA 9856465 Standard NM_003920 NM_003920 NA Approved hTIM, TIM, TIM1 uc001slf.2 Q9UNS1 OTTHUMG00000170600 ENST00000553532.1:c.61-1466A>G chr12.hg19:g.56829481T>C NA hg19 CCDS8918.1 0.02 -0.245541 TCAxGCC COVERED NOVEL TIMELESS-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000409771.1 10 2.707848 KEEP 2 0 0 9 275 TT 0.99254 0.636563 0 - 3 60 100 0 0 7.505881 21 60 611 57 ENST00000553532.1 0.125 0.641347 GLS2 27165 __UNKNOWN__ __UNKNOWN__ 12 56866908 56866908 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56866908T>C ENST00000311966.4 - 14 1728 NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) NA NA cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) glutaminase activity (GO:0004359) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamine(DB00130) ctcctgaccttgtgatccgcc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8921.1, CCDS73482.1 12q13 2013-01-10 ENSG00000135423 ENSG00000135423 27165 Ankyrin repeat domain containing 29570 protein-coding gene gene with protein product 606365 NA 11130979, 10620514 Standard NM_013267 NM_013267 NA Approved GA, GLS, LGA, hLGA uc001slj.3 Q9UI32 OTTHUMG00000140379 ENST00000311966.4:c.1449+103A>G chr12.hg19:g.56866908T>C NA B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31 hg19 CCDS8921.1 0.02 -0.350667 CCTxGTG COVERED NOVEL GLS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277113.1 4 7.2189 KEEP 0 0 0 24 694 TT 0.999909 0.888795 0 - 4 60 109 0 1 7.468386 30 60 791 72 ENST00000311966.4 0.117647 0.888875 RBMS2 5939 __UNKNOWN__ __UNKNOWN__ 12 56933539 56933539 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56933539T>C ENST00000262031.5 + 1 161 RBMS2_ENST00000549945.1_Intron|RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000542360.1_Intron NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 NA NA RNA processing (GO:0006396) nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 ctgcaacctctgcctcccagg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D28483 CCDS8923.1 12q13.13 2013-02-12 ENSG00000076067 ENSG00000076067 5939 RNA binding motif (RRM) containing 9909 protein-coding gene gene with protein product 602387 NA 8041632 Standard NM_002898 NM_002898 NA Approved SCR3 uc001sln.2 Q15434 OTTHUMG00000170488 ENST00000262031.5:c.66+17666T>C chr12.hg19:g.56933539T>C NA hg19 CCDS8923.1 0.02 3.512469 CTCxGCC COVERED NOVEL RBMS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409366.2 23 2.577629 KEEP 1 2 70 33 1028 TT 0.999999 0.999998 0 + 6 60 177 0 0 10.750707 109 60 3249 241 ENST00000262031.5 0.052174 1 RBMS2 5939 __UNKNOWN__ __UNKNOWN__ 12 56936546 56936546 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56936546A>C ENST00000262031.5 + 2 161 RBMS2_ENST00000549945.1_Intron|RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000542360.1_Intron NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 NA NA RNA processing (GO:0006396) nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 gttgcccaggatggtctcaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D28483 CCDS8923.1 12q13.13 2013-02-12 ENSG00000076067 ENSG00000076067 5939 RNA binding motif (RRM) containing 9909 protein-coding gene gene with protein product 602387 NA 8041632 Standard NM_002898 NM_002898 NA Approved SCR3 uc001sln.2 Q15434 OTTHUMG00000170488 ENST00000262031.5:c.67-19655A>C chr12.hg19:g.56936546A>C NA hg19 CCDS8923.1 0.02 -0.184175 AGGxTGG COVERED NOVEL RBMS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409366.2 8 2.406494 KEEP 0 0 0 8 234 AA 0.99257 0.420331 0 + 3 60 104 0 0 8.160777 17 60 500 40 ENST00000262031.5 0.15 0.423478 RBMS2 5939 __UNKNOWN__ __UNKNOWN__ 12 56980826 56980826 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:56980826A>G ENST00000262031.5 + 10 1046 RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000542360.1_Intron NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 NA NA RNA processing (GO:0006396) nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 aaggcaggcaaatcacctgag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D28483 CCDS8923.1 12q13.13 2013-02-12 ENSG00000076067 ENSG00000076067 5939 RNA binding motif (RRM) containing 9909 protein-coding gene gene with protein product 602387 NA 8041632 Standard NM_002898 NM_002898 NA Approved SCR3 uc001sln.2 Q15434 OTTHUMG00000170488 ENST00000262031.5:c.951+116A>G chr12.hg19:g.56980826A>G NA hg19 CCDS8923.1 0.02 -0.254288 GCAxATC COVERED NOVEL RBMS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409366.2 4 5.415222 KEEP 1 0 0 18 540 AA 0.999859 0.668429 0 + 3 60 103 0 0 7.749246 22 60 604 59 ENST00000262031.5 0.12 0.668523 PTGES3 10728 __UNKNOWN__ __UNKNOWN__ 12 57063274 57063274 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:57063274T>C ENST00000262033.6 - 5 676 PTGES3_ENST00000456859.2_Intron|PTGES3_ENST00000537473.1_Intron|PTGES3_ENST00000448157.2_Intron|PTGES3_ENST00000436399.2_Intron|PTGES3_ENST00000414274.3_Intron NM_006601.5 NP_006592.3 Q15185 TEBP_HUMAN prostaglandin E synthase 3 (cytosolic) NA NA arachidonic acid metabolic process (GO:0019369)|cell proliferation (GO:0008283)|chaperone cofactor-dependent protein refolding (GO:0070389)|cyclooxygenase pathway (GO:0019371)|glucocorticoid receptor signaling pathway (GO:0042921)|glycogen biosynthetic process (GO:0005978)|lung saccule development (GO:0060430)|prostaglandin biosynthetic process (GO:0001516)|RNA-dependent DNA replication (GO:0006278)|signal transduction (GO:0007165)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697) prostaglandin-E synthase activity (GO:0050220)|telomerase activity (GO:0003720)|unfolded protein binding (GO:0051082) large_intestine(1)|lung(1) 2 accatgttggtcaggctggtc 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC003005 CCDS31836.1, CCDS61158.1, CCDS61159.1, CCDS61160.1, CCDS73485.1 12q13.13 2012-03-14 ENSG00000110958 ENSG00000110958 10728 16049 protein-coding gene gene with protein product 607061 NA 8114727, 12077419 Standard NM_006601 XR_245889 NA Approved p23, TEBP, cPGES uc001slu.4 Q15185 OTTHUMG00000170217 ENST00000262033.6:c.375+784A>G chr12.hg19:g.57063274T>C NA A8K7D0|B4DHP2|B4DP11|B4DP21|Q8WU70 hg19 CCDS31836.1 0.02 -0.219246 TGGxCAG COVERED NOVEL PTGES3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408054.1 7 2.407229 KEEP 5 0 0 8 246 TT 0.99257 0.54878 0 - 4 43 128 0 2 10.094968 19 60 549 51 ENST00000262033.6 0.173913 0.552887 PTGES3 10728 __UNKNOWN__ __UNKNOWN__ 12 57063345 57063345 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:57063345G>A ENST00000262033.6 - 5 676 PTGES3_ENST00000456859.2_Intron|PTGES3_ENST00000537473.1_Intron|PTGES3_ENST00000448157.2_Intron|PTGES3_ENST00000436399.2_Intron|PTGES3_ENST00000414274.3_Intron NM_006601.5 NP_006592.3 Q15185 TEBP_HUMAN prostaglandin E synthase 3 (cytosolic) NA NA arachidonic acid metabolic process (GO:0019369)|cell proliferation (GO:0008283)|chaperone cofactor-dependent protein refolding (GO:0070389)|cyclooxygenase pathway (GO:0019371)|glucocorticoid receptor signaling pathway (GO:0042921)|glycogen biosynthetic process (GO:0005978)|lung saccule development (GO:0060430)|prostaglandin biosynthetic process (GO:0001516)|RNA-dependent DNA replication (GO:0006278)|signal transduction (GO:0007165)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697) prostaglandin-E synthase activity (GO:0050220)|telomerase activity (GO:0003720)|unfolded protein binding (GO:0051082) large_intestine(1)|lung(1) 2 gggattacaggcgtgagccac 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC003005 CCDS31836.1, CCDS61158.1, CCDS61159.1, CCDS61160.1, CCDS73485.1 12q13.13 2012-03-14 ENSG00000110958 ENSG00000110958 10728 16049 protein-coding gene gene with protein product 607061 NA 8114727, 12077419 Standard NM_006601 XR_245889 NA Approved p23, TEBP, cPGES uc001slu.4 Q15185 OTTHUMG00000170217 ENST00000262033.6:c.375+713C>T chr12.hg19:g.57063345G>A NA A8K7D0|B4DHP2|B4DP11|B4DP21|Q8WU70 hg19 CCDS31836.1 0.02 -0.30702 CAGxCGT COVERED NOVEL PTGES3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408054.1 16 3.009945 KEEP 7 0 0 10 366 GG 0.992708 0.79441 0 - 7 43 207 0 0 16.635418 26 60 882 72 ENST00000262033.6 0.212121 0.800245 RP11-123K3.4 0 __UNKNOWN__ __UNKNOWN__ 12 57677515 57677515 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:57677515T>C ENST00000548184.1 - 3 416 R3HDM2_ENST00000403821.2_Intron|R3HDM2_ENST00000402412.1_Intron|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000441731.2_Intron|R3HDM2_ENST00000347140.3_Intron|R3HDM2_ENST00000358907.2_Intron NA NA NA gaggagactctgtctcaaaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000548184.1:c.192+91A>G chr12.hg19:g.57677515T>C NA hg19 0.02 1.534916 CTCxGTC COVERED NOVEL RP11-123K3.4-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000412748.2 15 7.754255 KEEP 0 1 35 38 1126 TT 1 0.999678 0 - 4 60 133 1 0 8.361982 74 60 2125 168 ENST00000548184.1 0.051282 0.999678 KIF5A 3798 __UNKNOWN__ __UNKNOWN__ 12 57949361 57949361 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:57949361A>G ENST00000455537.2 + 1 403 KIF5A_ENST00000286452.5_Intron NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 gcaacagagcaagactccgtc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U06698 CCDS8945.1 12q13.13 2011-07-15 2004-02-13 ENSG00000155980 3798 Kinesins 6323 protein-coding gene gene with protein product 602821 spastic paraplegia 10 (autosomal dominant) SPG10 NA 9858832, 10441583, 16489470 Standard NM_004984 NM_004984 NA Approved D12S1889, NKHC, MY050 uc001sor.1 Q12840 OTTHUMG00000170143 ENST00000455537.2:c.129+5178A>G chr12.hg19:g.57949361A>G NA A6H8M5|Q4LE26 hg19 CCDS8945.1 0.02 -0.20172 AGCxAGA COVERED NOVEL KIF5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407634.1 8 3.309908 KEEP 2 0 0 11 340 AA 0.992708 0.486967 0 + 3 60 101 0 0 7.664845 20 60 588 47 ENST00000455537.2 0.130435 0.490544 OS9 10956 __UNKNOWN__ __UNKNOWN__ 12 58090627 58090627 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:58090627G>A ENST00000551035.1 + 4 497 OS9_ENST00000389142.5_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000315970.7_Intron|OS9_ENST00000389146.6_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000413095.2_Intron|OS9_ENST00000257966.8_Intron NM_001261421.1 NP_001248350.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin NA NA ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836) carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) ggccgggcacggtggctcacg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002806 CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1 12q13 2009-08-26 2009-08-26 10956 16994 protein-coding gene gene with protein product endoplasmic reticulum lectin 2, erlectin 2 609677 NA 8634085, 9498564, 19346256, 18264092 Standard NM_006812 NM_006812 NA Approved OS-9, ERLEC2 uc001spj.3 Q13438 OTTHUMG00000170284 ENST00000551035.1:c.480+806G>A chr12.hg19:g.58090627G>A NA A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99 hg19 CCDS58248.1 0.02 -0.228069 CACxGTG COVERED NOVEL OS9-008 NOVEL NAGNAG_splice_site|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000408352.1 6 2.708518 KEEP 1 0 0 9 300 GG 0.99254 0.578582 0 + 3 60 96 0 0 7.105659 21 60 674 47 ENST00000551035.1 0.125 0.58293 CDK4 1019 __UNKNOWN__ __UNKNOWN__ 12 58143512 58143512 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:58143512C>T ENST00000257904.6 - 6 998 TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000549606.1_Intron NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 NA NA cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165) chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667) ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) ccaggtgcagcggctcacgcc 0.502 NA Mis melanoma Hereditary Melanoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Dom Familial malignant melanoma 12 12q14 1019 cyclin-dependent kinase 4 E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome M14505 CCDS8953.1 12q13 2014-09-17 ENSG00000135446 1019 Cyclin-dependent kinases 1773 protein-coding gene gene with protein product 123829 NA 8275715 Standard NM_000075 NM_000075 NA Approved PSK-J3 uc001spv.3 P11802 ENST00000257904.6:c.633-225G>A chr12.hg19:g.58143512C>T NA B2R9A0|B4DNF9|O00576|Q6FG61 hg19 CCDS8953.1 0.02 1.403413 CAGxGGC COVERED NOVEL CDK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408790.2 8 7.65714 KEEP 0 1 33 37 1197 CC 1 0.995083 0 - 4 60 124 0 0 7.816337 60 60 1937 140 ENST00000257904.6 0.0625 0.995084 CDK4 1019 __UNKNOWN__ __UNKNOWN__ 12 58144316 58144316 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:58144316A>C ENST00000257904.6 - 5 998 CDK4_ENST00000312990.6_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000549606.1_Intron NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 NA NA cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165) chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667) ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) tgccattgcaatccagcctgg 0.502 NA Mis melanoma Hereditary Melanoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Dom Familial malignant melanoma 12 12q14 1019 cyclin-dependent kinase 4 E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome M14505 CCDS8953.1 12q13 2014-09-17 ENSG00000135446 1019 Cyclin-dependent kinases 1773 protein-coding gene gene with protein product 123829 NA 8275715 Standard NM_000075 NM_000075 NA Approved PSK-J3 uc001spv.3 P11802 ENST00000257904.6:c.632+122T>G chr12.hg19:g.58144316A>C NA B2R9A0|B4DNF9|O00576|Q6FG61 hg19 CCDS8953.1 0.02 1.590488 GCAxTCC COVERED NOVEL CDK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408790.2 8 12.939396 KEEP 0 0 0 43 1380 AA 1 0.999862 0 - 4 60 136 0 0 8.508222 81 60 2394 168 ENST00000257904.6 0.047059 0.999862 MARCH9 92979 __UNKNOWN__ __UNKNOWN__ 12 58151424 58151424 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:58151424C>T ENST00000266643.5 + 3 944 MARCH9_ENST00000548358.1_5'UTR NM_138396.5 NP_612405.2 Q86YJ5 MARH9_HUMAN membrane-associated ring finger (C3HC4) 9 NA NA protein ubiquitination (GO:0016567) Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|large_intestine(2)|lung(1) 4 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) agcaagactccgtctcgaagg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC009489 CCDS31847.1 12q14.1 2013-01-09 ENSG00000139266 92979 MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers 25139 protein-coding gene gene with protein product 613336 NA 14722266 Standard NM_138396 NM_138396 NA Approved RNF179, FLJ36578 uc001spx.2 Q86YJ5 ENST00000266643.5:c.514-467C>T chr12.hg19:g.58151424C>T NA B2R9U9|Q86VN5|Q96GG2 hg19 CCDS31847.1 0.02 1.124092 CTCxGTC COVERED NOVEL MARCH9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409244.1 20 12.034746 KEEP 0 0 0 40 1332 CC 1 0.999962 0 + 5 60 143 0 0 8.615908 74 70 2405 216 ENST00000266643.5 0.063291 0.999962 TSFM 10102 __UNKNOWN__ __UNKNOWN__ 12 58177665 58177665 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:58177665G>C ENST00000550559.1 + 2 246 RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000497617.1_Intron|TSFM_ENST00000350762.5_Intron|TSFM_ENST00000540550.1_Intron|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000323833.8_Intron|TSFM_ENST00000454289.3_Intron|TSFM_ENST00000548851.1_Intron Ts translation elongation factor, mitochondrial NA NA endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) tcccagagtggtgggattaca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L37936 CCDS8958.2, CCDS53809.1, CCDS53810.1, CCDS53811.1 12q14.1 2006-06-10 ENSG00000123297 ENSG00000123297 10102 12367 protein-coding gene gene with protein product 604723 NA 7615523 Standard NM_005726 NM_005726 NA Approved EF-Tsmt, EF-TS uc001sqh.3 P43897 OTTHUMG00000153042 ENST00000550559.1:c.231+599G>C chr12.hg19:g.58177665G>C NA hg19 0.02 1.769482 GTGxTGG COVERED NOVEL TSFM-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409343.1 5 14.715236 KEEP 0 2 63 71 2439 GG 1 0.999407 0 + 4 60 143 0 0 9.33808 75 60 2486 189 ENST00000550559.1 0.050633 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 58805860 58805860 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:58805860C>A NA NA RP11-58A17.4 (318715 upstream) : RP11-362K2.2 (132046 downstream) NA NA NA cagcctcccacagtgctggga 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.58805860C>A NA hg19 0.02 -0.341743 CCAxAGT COVERED NOVEL 0 13 2.708855 KEEP 0 0 0 9 319 CC 0.99254 0.859287 0 6 60 159 1 0 12.064299 26 60 863 64 0.1875 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 59827676 59827676 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:59827676T>C NA NA RP11-272B17.1 (22724 upstream) : RNU6-871P (16777 downstream) NA NA NA cggtggctcatgcctgtaatc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.59827676T>C NA hg19 0.02 -0.140324 TCAxGCC UNCOVERED NOVEL 0 8 2.407196 KEEP 1 0 0 8 246 TT 0 0 0 3 60 97 0 0 7.779062 13 60 383 34 0.1875 0.260965 MON2 23041 __UNKNOWN__ __UNKNOWN__ 12 62989013 62989013 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:62989013T>C ENST00000393632.2 + 0 8029 MON2_ENST00000393630.3_3'UTR NM_015026.2 NP_055841.2 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) NA NA actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192) extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802) ARF guanyl-nucleotide exchange factor activity (GO:0005086) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) caacctctgcttcccgggttc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1 12q14.1 2014-08-12 2006-04-04 ENSG00000061987 ENSG00000061987 23041 29177 protein-coding gene gene with protein product MON2 homolog (yeast) NA 16301316, 24285343 Standard NM_015026 NM_015026 NA Approved KIAA1040 uc001sre.3 Q7Z3U7 OTTHUMG00000169992 ENST00000393632.2:c.*2484T>C chr12.hg19:g.62989013T>C NA A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1 hg19 CCDS31849.1 0.02 1.620021 TGCxTCC COVERED NOVEL MON2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406767.3 20 8.58722 KEEP 1 1 38 42 1302 TT 1 0.999956 0 + 5 60 172 0 0 11.083894 90 60 2676 204 ENST00000393632.2 0.052632 0.999956 XPOT 11260 __UNKNOWN__ __UNKNOWN__ 12 64803509 64803509 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:64803509C>T ENST00000332707.5 + 2 455 NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA NA NA intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) tRNA binding (GO:0000049) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) agtgagactccgtctcaaaaa 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039022 CCDS31852.1 12q14.1 2012-10-17 2012-10-17 ENSG00000184575 ENSG00000184575 11260 Exportins 12826 protein-coding gene gene with protein product 603180 exportin, tRNA (nuclear export receptor for tRNAs) NA 9660920, 9512417 Standard NM_007235 NM_007235 NA Approved XPO3 uc001ssb.3 O43592 OTTHUMG00000168794 ENST00000332707.5:c.-74-233C>T chr12.hg19:g.64803509C>T NA A6NLH1|O43784|Q8WUG2|Q9BVS7 hg19 CCDS31852.1 0.02 -0.377137 CTCxGTC COVERED NOVEL XPOT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401122.1 5 2.407376 KEEP 0 0 0 8 258 AC 0.99254 0.911321 0 + 4 60 115 1 0 7.722437 37 60 1199 79 ENST00000332707.5 0.097561 0.918171 MSRB3 253827 __UNKNOWN__ __UNKNOWN__ 12 65804183 65804183 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:65804183T>C ENST00000308259.5 + 5 566 MSRB3_ENST00000535664.1_Intron|MSRB3_ENST00000540804.1_Intron|MSRB3_ENST00000355192.3_Intron NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 NA NA protein repair (GO:0030091)|response to oxidative stress (GO:0006979) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) tgcctataattccagcacttt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX640871 CCDS8973.1, CCDS31853.1 12q14.3 2011-11-29 ENSG00000174099 ENSG00000174099 253827 27375 protein-coding gene gene with protein product 613719 deafness, autosomal recessive 74 DFNB74 NA 21185009 Standard NM_198080 NM_198080 NA Approved FLJ36866, DKFZp686C1178 uc021qzy.1 Q8IXL7 OTTHUMG00000168866 ENST00000308259.5:c.292+41377T>C chr12.hg19:g.65804183T>C NA B4DR19|B7ZAQ0|Q6UXS2 hg19 CCDS31853.1 0.02 -0.166643 AATxCCA COVERED NOVEL MSRB3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401422.1 4 2.407425 KEEP 1 0 0 8 257 AT 0.99254 0.351306 0 + 3 60 98 0 0 7.791853 14 60 413 44 ENST00000308259.5 0.176471 0.353947 MSRB3 253827 __UNKNOWN__ __UNKNOWN__ 12 65858107 65858107 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:65858107A>C ENST00000308259.5 + 0 1837 MSRB3_ENST00000355192.3_3'UTR NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 NA NA protein repair (GO:0030091)|response to oxidative stress (GO:0006979) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) tggcgcatgcatgtagtccca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX640871 CCDS8973.1, CCDS31853.1 12q14.3 2011-11-29 ENSG00000174099 ENSG00000174099 253827 27375 protein-coding gene gene with protein product 613719 deafness, autosomal recessive 74 DFNB74 NA 21185009 Standard NM_198080 NM_198080 NA Approved FLJ36866, DKFZp686C1178 uc021qzy.1 Q8IXL7 OTTHUMG00000168866 ENST00000308259.5:c.*1005A>C chr12.hg19:g.65858107A>C NA B4DR19|B7ZAQ0|Q6UXS2 hg19 CCDS31853.1 0.02 1.848637 TGCxTGT COVERED NOVEL MSRB3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401422.1 15 2.878406 KEEP 0 2 76 36 1078 AA 1 0.9982 0 + 5 60 145 0 0 9.113121 64 60 1768 130 ENST00000308259.5 0.072464 0.9982 HMGA2 8091 __UNKNOWN__ __UNKNOWN__ 12 66308727 66308727 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:66308727A>T ENST00000541363.1 + 4 622 HMGA2_ENST00000403681.2_Intron|HMGA2_ENST00000393577.3_Intron|HMGA2_ENST00000354636.3_Intron|AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000536545.1_3'UTR P52926 HMGA2_HUMAN high mobility group AT-hook 2 NA NA adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863) nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141) 5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134) HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) agtgctgggaatacaggcgtg 0.493 NA T LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT lipoma, leiomyoma, pleiomorphic salivary gland adenoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 12 12q15 8091 high mobility group AT-hook 2 (HMGIC) M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U28754 CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1 12q15 2011-07-01 2002-07-25 2002-07-26 ENSG00000149948 ENSG00000149948 8091 High-mobility group / Canonical 5009 protein-coding gene gene with protein product 600698 high-mobility group (nonhistone chromosomal) protein isoform I-C HMGIC NA 8824803, 9003504 Standard NM_003483 XM_006719620 NA Approved BABL, LIPO uc001ssx.3 P52926 OTTHUMG00000168936 ENST00000541363.1:c.250-36436A>T chr12.hg19:g.66308727A>T NA E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188 hg19 0.02 4.345932 GGAxTAC COVERED NOVEL HMGA2-011 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000401662.1 26 17.20576 KEEP 0 2 65 80 2525 AA 1 1 0 + 9 60 260 0 0 15.810686 131 60 3858 336 ENST00000541363.1 0.064286 1 LLPH 84298 __UNKNOWN__ __UNKNOWN__ 12 66516998 66516998 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:66516998T>C ENST00000266604.2 - 0 1082 NM_032338.3 NP_115714.1 Q9BRT6 LLPH_HUMAN LLP homolog, long-term synaptic facilitation (Aplysia) NA NA poly(A) RNA binding (GO:0044822) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1) 5 gcaacctccatctcctgggtt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057947 CCDS8974.1 12q14.3 2014-05-09 2008-10-02 2008-10-02 ENSG00000139233 ENSG00000139233 84298 28229 protein-coding gene gene with protein product human LAPS18-like protein chromosome 12 open reading frame 31 C12orf31 NA 12477932 Standard NM_032338 NM_032338 NA Approved MGC14817, hLLP uc010ssw.2 Q9BRT6 OTTHUMG00000168959 ENST00000266604.2:c.*622A>G chr12.hg19:g.66516998T>C NA Q3B766 hg19 CCDS8974.1 0.02 -0.315741 CCAxCTC COVERED NOVEL LLPH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401752.1 2 4.798985 KEEP 0 0 0 16 496 TT 0.997832 0.81669 0 - 3 60 93 0 0 6.368505 30 60 899 63 ENST00000266604.2 0.090909 0.818465 DYRK2 8445 __UNKNOWN__ __UNKNOWN__ 12 68042962 68042962 __UNKNOWN__ Splice_Site SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:68042962G>C ENST00000344096.3 + 1 462 c.49G>C c.(49-51)Ggc>Cgc p.G17R DYRK2_ENST00000537632.1_3'UTR|DYRK2_ENST00000393555.3_5'UTR NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 17 NA cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224) cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) CTACCCGACCGGTAAGGAGGC 0.736 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 7 9 8 NA NA NA 12 NA NA 68042962 2055 4038 6093 SO:0001630 splice_region_variant Y09216 CCDS8978.1, CCDS8979.1 12q15 2008-07-03 ENSG00000127334 8445 3093 protein-coding gene gene with protein product 603496 NA 9748265 Standard NM_003583 NA Approved uc001str.4 Q92630 ENST00000344096.3:c.49+1G>C chr12.hg19:g.68042962G>C NA B2R9V9|Q9BRB5 hg19 CCDS8978.1 0.02 11.51053 ACCxGTA COVERED . . . . . . . . . . - 13.18 2.161192 0.38119 . . ENSG00000127334 ENST00000344096 T 0.67698 -0.28 1.87 1.87 0.25490 . 0.000000 0.48767 U 0.000176 T 0.45558 0.1348 N 0.14661 0.345 0.80722 D 1 D 0.53312 0.959 B 0.42522 0.39 T 0.33777 -0.9855 9 . . . . 10.162 0.42858 0.0:0.0:1.0:0.0 . 17 Q92630 DYRK2_HUMAN R 17 ENSP00000342105:G17R . G + 1 0 DYRK2 66329229 1.000000 0.71417 0.998000 0.56505 0.637000 0.38172 4.277000 0.58939 1.034000 0.39945 0.195000 0.17529 GGC NOVEL DYRK2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402218.1 0 43.32984 KEEP 0 0 0 144 4864 GG 1 1 0 Missense_Mutation + 75 60 2456 0 0 204.475399 256 70 8450 708 ENST00000344096.3 0.226586 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 68134289 68134289 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:68134289A>G NA NA RP11-43N5.1 (11034 upstream) : GS1-410F4.4 (188725 downstream) NA NA NA gattacaggcatgagccaccg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.68134289A>G NA hg19 0.02 -0.131563 GGCxTGA COVERED NOVEL 0 7 2.406622 KEEP 0 0 0 8 237 AA 0.99257 0.22747 0 3 40 105 0 0 8.882039 10 60 297 35 0.230769 0.229173 NUP107 57122 __UNKNOWN__ __UNKNOWN__ 12 69112935 69112935 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:69112935T>C ENST00000539906.1 + 13 1240 NUP107_ENST00000378905.2_Intron|NUP107_ENST00000229179.4_Intron P57740 NU107_HUMAN nucleoporin 107kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056) NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) tcccaaagtgttgggattaca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055629 CCDS8985.1 12q14 2004-03-19 ENSG00000111581 ENSG00000111581 57122 29914 protein-coding gene gene with protein product 607617 NA 12552102, 12705868 Standard NM_020401 XM_005269037 NA Approved NUP84 uc001suf.3 P57740 OTTHUMG00000169265 ENST00000539906.1:c.997-186T>C chr12.hg19:g.69112935T>C NA B4DZ67|Q6PJE1 hg19 0.02 -0.166644 GTGxTGG COVERED NOVEL NUP107-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403200.1 2 2.707237 KEEP 1 0 0 9 271 TT 0.992708 0.351366 0 + 4 60 137 0 0 11.468469 14 60 415 43 ENST00000539906.1 0.222222 0.353947 SLC35E3 55508 __UNKNOWN__ __UNKNOWN__ 12 69158765 69158765 __UNKNOWN__ 3'UTR SNP G G A rs543653060 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:69158765G>A ENST00000398004.2 + 0 1309 SLC35E3_ENST00000538043.1_Intron NM_018656.2 NP_061126.2 Q7Z769 S35E3_HUMAN solute carrier family 35, member E3 NA NA integral component of membrane (GO:0016021) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) ggccaggcacggtggctcacg 0.453 NA G||| 3 0.000599042 0 0 5008 , , NA 16105 0 NA 0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF148713, AY358943 CCDS41808.1 12q15 2014-09-04 ENSG00000175782 ENSG00000175782 55508 Solute carriers 20864 protein-coding gene gene with protein product NA 12975309 Standard NM_018656 XM_005269006 NA Approved BLOV1 uc001suh.3 Q7Z769 OTTHUMG00000169282 ENST00000398004.2:c.*95G>A chr12.hg19:g.69158765G>A NA A8K0T0|Q0P5Y5|Q9P0V1 hg19 CCDS41808.1 0.02 2.633066 CACxGTG COVERED NOVEL SLC35E3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403241.1 19 14.249243 KEEP 0 3 96 81 2740 GG 1 0.999999 0 + 6 60 176 0 0 10.270479 108 60 3567 260 ENST00000398004.2 0.052632 0.999999 SLC35E3 55508 __UNKNOWN__ __UNKNOWN__ 12 69158774 69158774 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:69158774C>T ENST00000398004.2 + 0 1318 SLC35E3_ENST00000538043.1_Intron NM_018656.2 NP_061126.2 Q7Z769 S35E3_HUMAN solute carrier family 35, member E3 NA NA integral component of membrane (GO:0016021) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) cggtggctcacgcctgtaatc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF148713, AY358943 CCDS41808.1 12q15 2014-09-04 ENSG00000175782 ENSG00000175782 55508 Solute carriers 20864 protein-coding gene gene with protein product NA 12975309 Standard NM_018656 XM_005269006 NA Approved BLOV1 uc001suh.3 Q7Z769 OTTHUMG00000169282 ENST00000398004.2:c.*104C>T chr12.hg19:g.69158774C>T NA A8K0T0|Q0P5Y5|Q9P0V1 hg19 CCDS41808.1 0.02 3.008652 TCAxGCC COVERED NOVEL SLC35E3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403241.1 19 22.86926 KEEP 0 0 0 76 2439 CC 1 0.999994 0 + 7 60 216 0 0 13.781313 98 60 3044 225 ENST00000398004.2 0.066667 0.999994 SLC35E3 55508 __UNKNOWN__ __UNKNOWN__ 12 69158819 69158819 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:69158819T>C ENST00000398004.2 + 0 1363 SLC35E3_ENST00000538043.1_Intron NM_018656.2 NP_061126.2 Q7Z769 S35E3_HUMAN solute carrier family 35, member E3 NA NA integral component of membrane (GO:0016021) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) agcggatcacttgaggtcagg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF148713, AY358943 CCDS41808.1 12q15 2014-09-04 ENSG00000175782 ENSG00000175782 55508 Solute carriers 20864 protein-coding gene gene with protein product NA 12975309 Standard NM_018656 XM_005269006 NA Approved BLOV1 uc001suh.3 Q7Z769 OTTHUMG00000169282 ENST00000398004.2:c.*149T>C chr12.hg19:g.69158819T>C NA A8K0T0|Q0P5Y5|Q9P0V1 hg19 CCDS41808.1 0.02 -0.403266 CACxTGA COVERED NOVEL SLC35E3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403241.1 7 11.130397 KEEP 0 0 0 37 1182 TT 1 0.934492 0 + 3 60 99 2 0 6.641243 39 60 1163 91 ENST00000398004.2 0.071429 0.934492 MDM2 4193 __UNKNOWN__ __UNKNOWN__ 12 69234167 69234167 __UNKNOWN__ 3'UTR SNP G G A rs564511414 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:69234167G>A ENST00000462284.1 + 0 2334 MDM2_ENST00000540827.1_3'UTR|MDM2_ENST00000258149.5_3'UTR|MDM2_ENST00000428863.2_3'UTR|MDM2_ENST00000356290.4_3'UTR NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 proto-oncogene, E3 ubiquitin protein ligase NA NA cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202) enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ctcgtgatccgcccacctcgg 0.498 NA A sarcoma, glioma, colorectal, other G||| 1 0.000199681 8e-04 0 5008 , , NA 17576 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA Dom yes 12 12q15 4193 Mdm2 p53 binding protein homolog M, O, E, L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8986.2, CCDS61189.1 12q13-q14 2014-06-26 2014-06-26 ENSG00000135679 ENSG00000135679 4193 6973 protein-coding gene gene with protein product 164785 mouse double minute 2, human homolog of; p53-binding protein, Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse), Mdm2 p53 binding protein homolog (mouse) NA 1614537, 16905769 Standard NM_006880 NM_002392 NA Approved HDM2, MGC5370 uc001sui.4 Q00987 OTTHUMG00000142827 ENST00000462284.1:c.*538G>A chr12.hg19:g.69234167G>A NA A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8 hg19 CCDS8986.2 0.02 4.401167 TCCxCCC COVERED NOVEL MDM2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286419.1 21 15.913811 KEEP 6 0 0 53 1736 GG 1 1 0 + 7 60 202 0 0 11.086605 153 60 4791 288 ENST00000462284.1 0.04375 1 MDM2 4193 __UNKNOWN__ __UNKNOWN__ 12 69238569 69238569 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:69238569C>T ENST00000462284.1 + 0 6736 MDM2_ENST00000540827.1_3'UTR|MDM2_ENST00000258149.5_3'UTR|MDM2_ENST00000428863.2_3'UTR|MDM2_ENST00000356290.4_3'UTR NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 proto-oncogene, E3 ubiquitin protein ligase NA NA cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202) enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ttttttgagacggagtcttgc 0.428 NA A sarcoma, glioma, colorectal, other NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 12 12q15 4193 Mdm2 p53 binding protein homolog M, O, E, L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8986.2, CCDS61189.1 12q13-q14 2014-06-26 2014-06-26 ENSG00000135679 ENSG00000135679 4193 6973 protein-coding gene gene with protein product 164785 mouse double minute 2, human homolog of; p53-binding protein, Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse), Mdm2 p53 binding protein homolog (mouse) NA 1614537, 16905769 Standard NM_006880 NM_002392 NA Approved HDM2, MGC5370 uc001sui.4 Q00987 OTTHUMG00000142827 ENST00000462284.1:c.*4940C>T chr12.hg19:g.69238569C>T NA A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8 hg19 CCDS8986.2 0.02 -0.394668 AGAxGGA COVERED NOVEL MDM2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286419.1 6 3.3107 KEEP 1 0 0 11 376 CC 0.993072 0.920221 0 + 5 60 133 1 0 9.035846 37 60 1152 63 ENST00000462284.1 0.119048 0.92664 CPM 1368 __UNKNOWN__ __UNKNOWN__ 12 69249759 69249759 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:69249759A>G ENST00000551568.1 - 0 1850 CPM_ENST00000338356.3_3'UTR|CPM_ENST00000546373.1_3'UTR NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M NA NA anatomical structure morphogenesis (GO:0009653) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) tgatccgcccaccttggcctc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF368463 CCDS8987.1 12q15 2012-02-10 ENSG00000135678 ENSG00000135678 1368 3.4.17.12 2311 protein-coding gene gene with protein product renal carboxypeptidase, urinary carboxypeptidase B 114860 NA 8586455 Standard NM_198320 NM_001874 NA Approved uc001suq.3 P14384 OTTHUMG00000169300 ENST00000551568.1:c.*458T>C chr12.hg19:g.69249759A>G NA B2R800|Q9H2K9 hg19 CCDS8987.1 0.02 -0.236601 CCCxCCT COVERED NOVEL CPM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403355.1 6 3.007613 KEEP 0 0 0 10 291 AA 0.992708 0.607941 0 - 3 60 96 0 0 7.050782 22 60 605 50 ENST00000551568.1 0.12 0.612407 TMEM19 55266 __UNKNOWN__ __UNKNOWN__ 12 72093566 72093566 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:72093566A>G ENST00000266673.5 + 5 1441 TMEM19_ENST00000549735.1_3'UTR NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 NA NA integral component of membrane (GO:0016021) large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) ggaggcggagattgcagtgag 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008596 CCDS9002.1 12q15 2004-03-04 ENSG00000139291 55266 25605 protein-coding gene gene with protein product NA 12477932 Standard NM_018279 NM_018279 NA Approved FLJ10936 uc001sws.3 Q96HH6 OTTHUMG00000169558 ENST00000266673.5:c.847+677A>G chr12.hg19:g.72093566A>G NA B2RDL2|Q53FY3|Q9NV41 hg19 CCDS9002.1 0.02 1.888851 GAGxTTG COVERED NOVEL TMEM19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404801.1 3 3.945021 KEEP 0 1 28 23 721 AA 0.999909 0.986064 0 + 4 60 125 0 0 8.290322 48 60 1386 107 ENST00000266673.5 0.076923 0.986153 TBC1D15 64786 __UNKNOWN__ __UNKNOWN__ 12 72248568 72248568 __UNKNOWN__ Intron SNP C C T rs76002198 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:72248568C>T ENST00000485960.2 + 1 53 TBC1D15_ENST00000319106.8_Intron|TBC1D15_ENST00000550746.1_Intron|TBC1D15_ENST00000393309.3_Intron Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 NA NA positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) Rab GTPase activator activity (GO:0005097) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 tTTGCAGATTCGCTTGGTGAC 0.353 NA C||| 16 0.00319489 0.0113 0.0014 5008 , , NA 17861 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL157464 CCDS31858.1, CCDS53814.1, CCDS55849.1 12q15 2013-07-09 ENSG00000121749 ENSG00000121749 64786 25694 protein-coding gene gene with protein product 612662 NA 16055087 Standard NM_022771 NM_022771 NA Approved FLJ12085, DKFZp761D0223 uc001swu.3 Q8TC07 OTTHUMG00000158553 ENST00000485960.2:c.30+14977C>T chr12.hg19:g.72248568C>T NA B4DMT9|B9A6L6|J3KNI9|Q9HA83 hg19 CCDS53814.1 0.02 1.274494 ATTxGCT COVERED NOVEL TBC1D15-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351267.2 12 35.487889 KEEP 0 0 0 118 3951 CC 1 0.999895 0 + 5 60 148 0 0 8.740423 88 60 2839 315 ENST00000485960.2 0.053763 0.999895 GLIPR1L2 144321 __UNKNOWN__ __UNKNOWN__ 12 75817569 75817569 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:75817569C>T ENST00000550916.1 + 4 717 GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000378692.3_Intron|GLIPR1L2_ENST00000441218.1_Intron|GLIPR1L2_ENST00000320460.4_3'UTR NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 NA NA integral component of membrane (GO:0016021) kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 cattgttcaactcccacttat 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029557 CCDS9010.1, CCDS58258.1 12q21.1 2014-06-03 ENSG00000180481 144321 28592 protein-coding gene gene with protein product 610394 NA 12477932 Standard NM_152436 NM_001270396 NA Approved MGC39497 uc001sxr.2 Q4G1C9 OTTHUMG00000169756 ENST00000550916.1:c.670+800C>T chr12.hg19:g.75817569C>T NA Q6MZS1|Q8N6N0|Q8NA43 hg19 CCDS58258.1 0.02 -0.412289 CAAxTCC COVERED NOVEL GLIPR1L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405718.1 4 2.578225 KEEP 1 2 61 30 1097 CC 0.999997 0.941739 0 + 4 60 115 1 0 7.635413 39 60 1328 96 ENST00000550916.1 0.093023 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 77054615 77054615 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:77054615A>G NA NA RP11-20E24.1 (45404 upstream) : ZDHHC17 (102752 downstream) NA NA NA GTGAGAACCAATGGGAAGGAG 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.77054615A>G NA hg19 0.02 -0.245596 CCAxTGG COVERED NOVEL 0 3 3.310613 KEEP 2 0 0 11 371 AA 0.993072 0.636904 0 4 40 142 0 0 11.190694 23 60 702 66 0.148148 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 77378720 77378720 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:77378720G>A NA NA RP11-461F16.3 (104588 upstream) : E2F7 (36306 downstream) NA NA NA cccaggctggggtgcaatggc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.77378720G>A NA hg19 0.02 -0.166644 TGGxGTG COVERED NOVEL 0 2 3.611805 KEEP 0 0 0 12 427 GG 0.993634 0.351693 0 3 60 91 0 0 7.092032 14 60 439 34 0.176471 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 78224957 78224957 __UNKNOWN__ IGR SNP G G C rs144412967 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:78224957G>C NA NA RP11-781A6.1 (47601 upstream) : NAV3 (111 downstream) NA NA NA gacagagagagagagagagag 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.78224957G>C NA hg19 0.02 1.628913 AGAxAGA COVERED NOVEL 0 9 9.561913 KEEP 7 1 29 42 1411 GG 1 0.992926 0 5 60 131 1 2 8.992856 36 70 1184 129 0.121951 0.992926 DCN 1634 __UNKNOWN__ __UNKNOWN__ 12 91544929 91544929 __UNKNOWN__ Intron SNP C C T rs3138270 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:91544929C>T ENST00000052754.5 - 7 1387 DCN_ENST00000393155.1_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000552962.1_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000441303.2_Intron NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin NA NA aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060) collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822) central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 ccatggcacacgtatacctat 0.448 NA C||| 201 0.0401358 0.1467 0.0072 5008 , , NA 17806 0 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF138300 CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1 12q21.33 2014-04-16 ENSG00000011465 ENSG00000011465 1634 Proteoglycans / Extracellular Matrix : Small leucine-rich repeats 2705 protein-coding gene gene with protein product decorin proteoglycan 125255 NA 8432526 Standard NM_133507 NM_133507 NA Approved DSPG2, SLRR1B uc001tbt.3 P07585 OTTHUMG00000169998 ENST00000052754.5:c.885+501G>A chr12.hg19:g.91544929C>T NA Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9 hg19 CCDS9039.1 0.02 -0.324498 ACAxGTA COVERED NOVEL DCN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406799.3 4 10.226191 KEEP 0 0 0 34 1090 CC 0.999998 0.835714 0 - 4 60 118 0 0 8.209244 33 60 1006 77 ENST00000052754.5 0.108108 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 92973843 92973843 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:92973843T>C NA NA snoU13 (35080 upstream) : C12orf74 (122775 downstream) NA NA NA tcgtgatccgtccgcctcggc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.92973843T>C NA hg19 0.02 -0.157849 CCGxCCG COVERED NOVEL 0 6 3.009214 KEEP 5 0 0 10 315 TT 0.99257 0.320408 0 3 40 97 0 0 7.872662 12 60 339 41 0.2 0.322807 UBE2N 7334 __UNKNOWN__ __UNKNOWN__ 12 93801428 93801428 __UNKNOWN__ 3'UTR SNP C C T rs12816436 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:93801428C>T ENST00000318066.2 - 0 3223 NM_003348.3 NP_003339.1 P61088 UBE2N_HUMAN ubiquitin-conjugating enzyme E2N NA NA cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842) endometrium(3)|liver(2)|lung(5) 10 aaaagttacccgaattctgga 0.433 NA Direct reversal of damage;Rad6 pathway A||| 466 0.0930511 0.1316 0.1037 5008 , , NA 20968 0.001 NA 0.1481 False NA ,,, NA NA NA 2504 0.0716 NA NA NA Pancreas(197;738 2228 30225 32034 33454) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D83004 CCDS31875.1 12q22 2011-05-19 2011-05-19 ENSG00000177889 7334 Ubiquitin-conjugating enzymes E2 12492 protein-coding gene gene with protein product 603679 ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13), ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast) NA 8902611 Standard NM_003348 NM_003348 NA Approved UbcH-ben, UBC13, MGC8489 uc001tcp.3 P61088 OTTHUMG00000170156 ENST00000318066.2:c.*2387G>A chr12.hg19:g.93801428C>T NA Q16781|Q53Y81 hg19 CCDS31875.1 0.02 1.608379 ACCxGAA COVERED NOVEL UBE2N-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407710.1 2 15.383408 KEEP 0 1 31 62 2094 CC 1 0.976865 0 - 4 60 124 0 0 8.090136 51 60 1580 150 ENST00000318066.2 0.072727 0.976865 MRPL42 28977 __UNKNOWN__ __UNKNOWN__ 12 93897366 93897366 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:93897366C>G ENST00000549982.1 + 0 2959 NM_014050.3|NM_172177.3 NP_054769.1|NP_751917.1 Q9Y6G3 RM42_HUMAN mitochondrial ribosomal protein L42 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2) 7 cgccatgttgcccaggctggt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051626 CCDS9045.1 12q22 2014-02-12 ENSG00000198015 ENSG00000198015 28977 Mitochondrial ribosomal proteins / large subunits, Mitochondrial ribosomal proteins / small subunits 14493 protein-coding gene gene with protein product mitochondrial ribosomal protein S32 611847 NA 11279123, 11042152 Standard NM_014050 NM_014050 NA Approved MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31 uc001tcr.3 Q9Y6G3 OTTHUMG00000170157 ENST00000549982.1:c.*2369C>G chr12.hg19:g.93897366C>G NA Q6FID1|Q96Q48|Q9P0S1 hg19 CCDS9045.1 0.02 1.916426 TTGxCCA COVERED NOVEL MRPL42-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000407715.1 10 3.811344 KEEP 1 3 81 41 1395 CC 1 0.976865 0 + 5 60 164 0 0 11.875702 42 60 1367 116 ENST00000549982.1 0.106383 0.976865 RP11-536G4.2 0 __UNKNOWN__ __UNKNOWN__ 12 96192688 96192688 __UNKNOWN__ RNA SNP G G A rs372307027|rs7301650 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:96192688G>A ENST00000553194.1 - 0 154 NA NA NA ggaggagaaggagaaggagaa 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000553194.1: chr12.hg19:g.96192688G>A NA hg19 0.02 -0.113997 AAGxAGA UNCOVERED NOVEL RP11-536G4.2-001 KNOWN basic antisense NA antisense OTTHUMT00000408622.1 14 2.407774 KEEP 13 0 0 8 274 GG 0 0 0 - 4 60 113 1 1 10.798626 4 40 129 35 ENST00000553194.1 0.5 0.162467 RP11-536G4.2 0 __UNKNOWN__ __UNKNOWN__ 12 96192694 96192694 __UNKNOWN__ RNA SNP G G A rs7301656|rs372307027 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:96192694G>A ENST00000553194.1 - 0 154 NA NA NA gaaggagaaggagaaggagaa 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000553194.1: chr12.hg19:g.96192694G>A NA hg19 0.02 -0.078946 AAGxAGA UNCOVERED NOVEL RP11-536G4.2-001 KNOWN basic antisense NA antisense OTTHUMT00000408622.1 14 2.708513 KEEP 12 0 0 9 301 GG 0 0 0 - 3 60 92 1 0 8.554951 4 40 129 33 ENST00000553194.1 0.428571 0.077336 RP11-536G4.2 0 __UNKNOWN__ __UNKNOWN__ 12 96192700 96192700 __UNKNOWN__ RNA SNP G G A rs372307027|rs12049981|rs71091212|rs372805950 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:96192700G>A ENST00000553194.1 - 0 154 NA NA NA gaaggagaaggagaagaagaa 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000553194.1: chr12.hg19:g.96192700G>A NA hg19 0.02 -0.078934 AAGxAGA UNCOVERED NOVEL RP11-536G4.2-001 KNOWN basic antisense NA antisense OTTHUMT00000408622.1 11 2.407683 KEEP 10 0 0 8 268 GG 0 0 0 - 4 40 114 1 0 11.230775 3 40 94 29 ENST00000553194.1 0.571429 0.077336 ELK3 2004 __UNKNOWN__ __UNKNOWN__ 12 96611452 96611452 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:96611452A>G ENST00000228741.3 + 2 324 ELK3_ENST00000552142.1_Intron NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) NA NA angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060) intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634) purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) agtggctcacacctgtaatcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017371 CCDS9060.1 12q23 2006-12-30 ENSG00000111145 2004 3325 protein-coding gene gene with protein product 600247 NA 7851904 Standard NM_005230 NM_005230 NA Approved ERP, NET, SAP2 uc001teo.1 P41970 ENST00000228741.3:c.-2-5891A>G chr12.hg19:g.96611452A>G NA B2R6S6|Q6FG57|Q6GU29|Q9UD17 hg19 CCDS9060.1 0.02 -0.122547 CACxCCT UNCOVERED NOVEL ELK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408694.1 5 2.406604 KEEP 3 0 0 8 240 AA 0 0 0 + 3 60 106 0 0 9.105208 9 60 257 37 ENST00000228741.3 0.25 0.229173 TMPO 7112 __UNKNOWN__ __UNKNOWN__ 12 98942906 98942906 __UNKNOWN__ 3'UTR SNP T T A rs544061446 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:98942906T>A ENST00000556029.1 + 0 2991 NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) DNA binding (GO:0003677)|lamin binding (GO:0005521) breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 tcaaaaaaaataaaaaagtac 0.368 NA A||| 2 0.000399361 0 0 5008 , , NA 17549 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9064.1, CCDS31879.1, CCDS31880.1 12q22 2014-09-17 ENSG00000120802 ENSG00000120802 7112 11875 protein-coding gene gene with protein product LEM domain containing 4 188380 NA 7517549 Standard NM_003276 NM_003276 NA Approved TP, LAP2, LEMD4 uc001tfh.2 P42166 OTTHUMG00000170210 ENST00000556029.1:c.*1270T>A chr12.hg19:g.98942906T>A NA A2T926|Q14861 hg19 CCDS31879.1 0.02 -0.429615 AAAxAAA COVERED NOVEL TMPO-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407973.2 18 15.97336 KEEP 0 1 31 64 1920 TT 1 0.954491 0 + 4 60 109 0 0 6.958641 41 60 1145 156 ENST00000556029.1 0.088889 0.954491 ANO4 121601 __UNKNOWN__ __UNKNOWN__ 12 101440825 101440825 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:101440825T>C ENST00000392979.3 + 13 1507 ANO4_ENST00000392977.3_Intron|ANO4_ENST00000299222.9_Intron NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 gtcaggagtttgagaccagcc 0.542 NA HNSCC(74;0.22) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091540 CCDS31884.1, CCDS66445.1 12q23.3 2014-04-09 2008-08-28 2008-08-28 ENSG00000151572 ENSG00000151572 121601 Ion channels / Chloride channels : Calcium activated : Anoctamins 23837 protein-coding gene gene with protein product 610111 transmembrane protein 16D TMEM16D NA 12739008, 15067359, 24692353 Standard NM_178826 NM_178826 NA Approved FLJ34221, FLJ34272, FLJ35277 uc001thw.2 Q32M45 ENST00000392979.3:c.1147-1294T>C chr12.hg19:g.101440825T>C NA Q8NAJ0|Q8NB39|Q8NB53 hg19 CCDS31884.1 0.02 -0.087705 GTTxGAG UNCOVERED NOVEL ANO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409294.2 5 2.407377 KEEP 4 0 0 8 253 TT 0.99257 0.119541 0 + 3 60 84 0 0 7.342968 6 60 190 29 ENST00000392979.3 0.333333 0.120436 UTP20 27340 __UNKNOWN__ __UNKNOWN__ 12 101775046 101775046 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:101775046G>A ENST00000261637.4 + 58 7830 NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) NA NA endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364) 90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 atggtggctcgcgcctgtaat 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 49 40 43 NA NA NA 12 NA NA 101775046 692 1590 2282 SO:0001627 intron_variant AJ006778 CCDS9081.1 12q23 2006-02-11 ENSG00000120800 27340 17897 protein-coding gene gene with protein product down regulated in metastasis 612822 NA 9673349, 15590835, 12837249 Standard NM_014503 NM_014503 NA Approved DRIM uc001tia.1 O75691 OTTHUMG00000170270 ENST00000261637.4:c.7656+57G>A chr12.hg19:g.101775046G>A NA Q9H3H4 hg19 CCDS9081.1 0.02 -0.29818 CTCxCGC COVERED NOVEL UTP20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408242.1 4 10.912463 KEEP 0 2 38 50 1772 GG 1 0.800245 0 + 5 60 131 0 0 9.471755 27 60 897 95 ENST00000261637.4 0.15625 0.800245 NT5DC3 51559 __UNKNOWN__ __UNKNOWN__ 12 104168432 104168432 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:104168432G>A ENST00000392876.3 - 0 4862 NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 NA NA cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 attgcactccggcctgggcaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032786 CCDS41824.1 12q22-q23.1 2006-02-03 ENSG00000111696 ENSG00000111696 51559 30826 protein-coding gene gene with protein product 611076 NA Standard NM_016575 NM_001031701 NA Approved TU12B1-TY, FLJ11266 uc010swe.1 Q86UY8 OTTHUMG00000157017 ENST00000392876.3:c.*3175C>T chr12.hg19:g.104168432G>A NA Q9NUM7|Q9P2T2|Q9P2T3 hg19 CCDS41824.1 0.02 1.263181 TCCxGCC COVERED NOVEL NT5DC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347118.2 10 13.826472 KEEP 0 0 0 46 1359 GG 1 0.999487 0 - 5 60 154 1 0 10.243022 57 60 1712 132 ENST00000392876.3 0.080645 0.999487 NT5DC3 51559 __UNKNOWN__ __UNKNOWN__ 12 104170257 104170257 __UNKNOWN__ 3'UTR SNP C C T rs542402457 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:104170257C>T ENST00000392876.3 - 0 3037 NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 NA NA cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 cgcttgaacccgggaggcaga 0.493 NA c||| 2 0.000399361 0.0015 0 5008 , , NA 19109 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032786 CCDS41824.1 12q22-q23.1 2006-02-03 ENSG00000111696 ENSG00000111696 51559 30826 protein-coding gene gene with protein product 611076 NA Standard NM_016575 NM_001031701 NA Approved TU12B1-TY, FLJ11266 uc010swe.1 Q86UY8 OTTHUMG00000157017 ENST00000392876.3:c.*1350G>A chr12.hg19:g.104170257C>T NA Q9NUM7|Q9P2T2|Q9P2T3 hg19 CCDS41824.1 0.02 1.350814 ACCxGGG COVERED NOVEL NT5DC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347118.2 12 3.780939 KEEP 7 2 61 34 1161 CC 0.999999 0.998464 0 - 7 60 195 0 0 13.017537 62 60 2008 135 ENST00000392876.3 0.101449 0.998465 TDG 6996 __UNKNOWN__ __UNKNOWN__ 12 104359763 104359763 __UNKNOWN__ 5'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:104359763C>T ENST00000392872.3 + 0 182 TDG_ENST00000266775.9_5'UTR|TDG_ENST00000544861.1_5'UTR NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) CTACAGAGACCGGCTGCCCGT 0.677 NA Base excision repair (BER), DNA glycosylases NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 3 7 6 NA NA NA 12 NA NA 104359763 559 1341 1900 SO:0001623 5_prime_UTR_variant U51166 CCDS9095.1 12q24.1 2014-05-14 ENSG00000139372 ENSG00000139372 6996 3.2.2.29 11700 protein-coding gene gene with protein product G/T mismatch-specific thymine DNA glycosylase 601423 NA 8662714, 9299239 Standard NM_003211 NA Approved uc001tkg.3 Q13569 OTTHUMG00000168418 ENST00000392872.3:c.-53C>T chr12.hg19:g.104359763C>T NA Q8IUZ6|Q8IZM3 hg19 CCDS9095.1 0.02 2.668334 GACxGGC COVERED NOVEL TDG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399673.2 7 5.254288 KEEP 1 10 309 126 4171 CC 1 0.999997 0 + 8 60 231 0 0 14.324908 107 60 3387 305 ENST00000392872.3 0.069565 0.999997 TDG 6996 __UNKNOWN__ __UNKNOWN__ 12 104366903 104366903 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:104366903T>C ENST00000392872.3 + 2 257 TDG_ENST00000266775.9_Intron|TDG_ENST00000544861.1_Intron NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) gctcttgttgtccaggctgga 0.473 NA Base excision repair (BER), DNA glycosylases NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U51166 CCDS9095.1 12q24.1 2014-05-14 ENSG00000139372 ENSG00000139372 6996 3.2.2.29 11700 protein-coding gene gene with protein product G/T mismatch-specific thymine DNA glycosylase 601423 NA 8662714, 9299239 Standard NM_003211 NA Approved uc001tkg.3 Q13569 OTTHUMG00000168418 ENST00000392872.3:c.24-3793T>C chr12.hg19:g.104366903T>C NA Q8IUZ6|Q8IZM3 hg19 CCDS9095.1 0.02 -0.394647 TTGxCCA COVERED NOVEL TDG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399673.2 2 10.497673 KEEP 4 0 0 35 1090 TT 0.999998 0.926638 0 + 4 60 135 0 0 10.117585 29 60 859 83 ENST00000392872.3 0.121212 0.92664 NFYB 4801 __UNKNOWN__ __UNKNOWN__ 12 104511456 104511456 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:104511456A>G ENST00000240055.3 - 0 2910 NM_006166.3 NP_006157.1 P25208 NFYB_HUMAN nuclear transcription factor Y, beta NA NA cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 6 aaagtgctggaattataggca 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9098.1 12q22-q23 2008-11-11 ENSG00000120837 4801 7805 protein-coding gene gene with protein product 189904 NA 1774067, 9612081 Standard NM_006166 NA Approved CBF-A, HAP3, NF-YB uc001tkl.1 P25208 OTTHUMG00000170176 ENST00000240055.3:c.*2059T>C chr12.hg19:g.104511456A>G NA A8K7B9|Q96IY8 hg19 CCDS9098.1 0.02 -0.385707 TGGxATT COVERED NOVEL NFYB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407786.1 9 9.909536 KEEP 1 0 0 33 1009 AA 0.999998 0.918169 0 - 3 60 95 0 0 6.3095 37 60 1040 106 ENST00000240055.3 0.075 0.918171 NFYB 4801 __UNKNOWN__ __UNKNOWN__ 12 104514095 104514095 __UNKNOWN__ Intron SNP G G A rs184584966 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:104514095G>A ENST00000240055.3 - 7 819 NFYB_ENST00000551727.1_Intron NM_006166.3 NP_006157.1 P25208 NFYB_HUMAN nuclear transcription factor Y, beta NA NA cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 6 ggcctcccaaggtgctgggat 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9098.1 12q22-q23 2008-11-11 ENSG00000120837 4801 7805 protein-coding gene gene with protein product 189904 NA 1774067, 9612081 Standard NM_006166 NA Approved CBF-A, HAP3, NF-YB uc001tkl.1 P25208 OTTHUMG00000170176 ENST00000240055.3:c.591+82C>T chr12.hg19:g.104514095G>A NA A8K7B9|Q96IY8 hg19 CCDS9098.1 0.02 -0.122811 CAAxGTG COVERED NOVEL NFYB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407786.1 1 2.407912 KEEP 0 0 0 8 287 GG 0.99257 0.194853 0 - 4 60 119 0 0 10.490869 8 60 276 30 ENST00000240055.3 0.333333 0.196312 MMAB 326625 __UNKNOWN__ __UNKNOWN__ 12 110009324 110009324 __UNKNOWN__ Intron SNP C C T rs569278270 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:110009324C>T ENST00000545712.2 - 2 590 MMAB_ENST00000540016.1_Intron|MMAB_ENST00000266839.5_Intron NM_052845.3 NP_443077.1 Q96EY8 MMAB_HUMAN methylmalonic aciduria (cobalamin deficiency) cblB type NA NA cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) mitochondrial matrix (GO:0005759) ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817) cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) cccaaagtgccgggattacag 0.443 NA C||| 2 0.000399361 0 0 5008 , , NA 17104 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF550404 CCDS9131.1 12q24 2014-07-18 2005-07-11 ENSG00000139428 ENSG00000139428 326625 19331 protein-coding gene gene with protein product ATP:cob(I)alamin adenosyltransferase, cilia and flagella associated protein 23 607568 methylmalonic aciduria (cobalamin deficiency) type B NA 12471062, 12514191 Standard NM_052845 NA Approved cblB, CFAP23 uc001tou.3 Q96EY8 OTTHUMG00000169255 ENST00000545712.2:c.196+129G>A chr12.hg19:g.110009324C>T NA C5HU05|Q9BSH0 hg19 CCDS9131.1 0.02 -0.306955 TGCxGGG COVERED NOVEL MMAB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403128.2 7 7.824595 KEEP 0 0 0 26 869 CC 0.999957 0.800211 0 - 6 60 176 0 0 13.670304 27 60 849 77 ENST00000545712.2 0.181818 0.800245 MMAB 326625 __UNKNOWN__ __UNKNOWN__ 12 110009337 110009337 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:110009337A>G ENST00000545712.2 - 2 590 MMAB_ENST00000540016.1_Intron|MMAB_ENST00000266839.5_Intron NM_052845.3 NP_443077.1 Q96EY8 MMAB_HUMAN methylmalonic aciduria (cobalamin deficiency) cblB type NA NA cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) mitochondrial matrix (GO:0005759) ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817) cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) gattacaggcatgagccaccg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF550404 CCDS9131.1 12q24 2014-07-18 2005-07-11 ENSG00000139428 ENSG00000139428 326625 19331 protein-coding gene gene with protein product ATP:cob(I)alamin adenosyltransferase, cilia and flagella associated protein 23 607568 methylmalonic aciduria (cobalamin deficiency) type B NA 12471062, 12514191 Standard NM_052845 NA Approved cblB, CFAP23 uc001tou.3 Q96EY8 OTTHUMG00000169255 ENST00000545712.2:c.196+116T>C chr12.hg19:g.110009337A>G NA C5HU05|Q9BSH0 hg19 CCDS9131.1 0.02 -0.377134 GGCxTGA COVERED NOVEL MMAB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403128.2 8 8.124358 KEEP 0 0 0 27 837 AA 0.999988 0.909058 0 - 4 60 135 1 0 9.763451 36 60 1057 85 ENST00000545712.2 0.1 0.909069 RAD9B 144715 __UNKNOWN__ __UNKNOWN__ 12 110943354 110943354 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:110943354T>G ENST00000409778.3 + 3 141 RAD9B_ENST00000392672.4_Intron|RAD9B_ENST00000433301.1_Intron|RAD9B_ENST00000409246.1_Intron|RAD9B_ENST00000409425.1_Intron|RAD9B_ENST00000409300.1_Intron Q6WBX8 RAD9B_HUMAN RAD9 homolog B (S. pombe) NA NA DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260) checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654) endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 7 ccaaagtgcttggattacagg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1 12q24.13 2008-12-15 2008-12-15 ENSG00000151164 ENSG00000151164 144715 21700 protein-coding gene gene with protein product 608368 NA Standard NM_152442 NM_152442 NA Approved FLJ40346 uc001trf.4 Q6WBX8 OTTHUMG00000152952 ENST00000409778.3:c.118-68T>G chr12.hg19:g.110943354T>G NA Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8 hg19 0.02 -0.332888 GCTxGGA COVERED NOVEL RAD9B-009 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404634.1 7 2.40687 KEEP 0 3 112 47 1348 TT 1 0.851984 0 + 3 60 109 0 0 7.848454 33 60 938 113 ENST00000409778.3 0.083333 0.851984 HVCN1 84329 __UNKNOWN__ __UNKNOWN__ 12 111087918 111087918 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:111087918A>G ENST00000548312.1 - 7 965 HVCN1_ENST00000242607.8_Intron|HVCN1_ENST00000439744.2_Intron|HVCN1_ENST00000356742.5_Intron Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 NA NA cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 ccaaagtgctaggattacagg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007277 CCDS31900.1, CCDS58278.1 12q24.11 2011-12-09 2006-03-24 2006-03-24 ENSG00000122986 ENSG00000122986 84329 Voltage-gated ion channels / Hydrogen voltage-gated channel 28240 protein-coding gene gene with protein product voltage sensor domain-only protein 611227 NA 20961760, 16556803, 18356202, 22020278 Standard NM_032369 NM_032369 NA Approved MGC15619, Hv1, VSOP uc001trs.2 Q96D96 ENST00000548312.1:c.756+54T>C chr12.hg19:g.111087918A>G NA A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5 hg19 0.02 1.888778 GCTxGGA COVERED NOVEL HVCN1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404651.1 3 8.294938 KEEP 0 2 73 53 1633 AA 1 0.981955 0 - 5 60 169 0 0 12.097126 48 60 1360 131 ENST00000548312.1 0.09434 0.981955 NAA25 80018 __UNKNOWN__ __UNKNOWN__ 12 112533023 112533023 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:112533023C>T ENST00000261745.4 - 2 307 NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit NA NA cytoplasm (GO:0005737) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 gggcggatcacgaggtcagga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB054990 CCDS9159.1 12q24.13 2013-10-11 2010-01-14 2010-01-14 ENSG00000111300 80018 N(alpha)-acetyltransferase subunits 25783 protein-coding gene gene with protein product 612755 chromosome 12 open reading frame 30 C12orf30 NA 19660095 Standard NM_024953 NM_024953 NA Approved FLJ13089 uc001ttm.3 Q14CX7 OTTHUMG00000169638 ENST00000261745.4:c.59-2083G>A chr12.hg19:g.112533023C>T NA A0JLU7|Q6MZH1|Q7Z4N6|Q9H911 hg19 CCDS9159.1 0.02 -0.184189 TCAxGAG COVERED NOVEL NAA25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405205.1 7 2.708315 KEEP 5 0 0 9 291 CC 0.99254 0.420319 0 - 5 42 143 0 0 11.930339 14 60 435 48 ENST00000261745.4 0.263158 0.423478 NAA25 80018 __UNKNOWN__ __UNKNOWN__ 12 112533031 112533031 __UNKNOWN__ Intron SNP G G A rs201514422 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:112533031G>A ENST00000261745.4 - 2 307 NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit NA NA cytoplasm (GO:0005737) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 cacgaggtcaggagattgaga 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB054990 CCDS9159.1 12q24.13 2013-10-11 2010-01-14 2010-01-14 ENSG00000111300 80018 N(alpha)-acetyltransferase subunits 25783 protein-coding gene gene with protein product 612755 chromosome 12 open reading frame 30 C12orf30 NA 19660095 Standard NM_024953 NM_024953 NA Approved FLJ13089 uc001ttm.3 Q14CX7 OTTHUMG00000169638 ENST00000261745.4:c.59-2091C>T chr12.hg19:g.112533031G>A NA A0JLU7|Q6MZH1|Q7Z4N6|Q9H911 hg19 CCDS9159.1 0.02 -0.166466 TCAxGAG COVERED NOVEL NAA25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405205.1 8 3.009449 KEEP 5 0 0 10 345 GG 0.992708 0.351366 0 - 4 42 104 0 0 8.283068 13 60 424 47 ENST00000261745.4 0.235294 0.353947 SLC8B1 80024 __UNKNOWN__ __UNKNOWN__ 12 113753059 113753059 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:113753059T>C ENST00000552014.1 - 12 1651 SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000202831.3_Intron|SLC8B1_ENST00000546737.1_Intron Q6J4K2 NCKX6_HUMAN solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 NA NA cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085) integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803) NA cgtgccactgtactccagcct 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025886 CCDS31909.1 12q24.13 2013-07-19 2013-07-19 2013-07-19 ENSG00000089060 ENSG00000089060 80024 Solute carriers 26175 protein-coding gene gene with protein product 609841 solute carrier family 24 (sodium/potassium/calcium exchanger), member 6, solute carrier family 24 (sodium/lithium/calcium exchanger), member 6 SLC24A6 NA 14625281, 23506867 Standard NM_024959 NM_024959 NA Approved FLJ22233, NCKX6, NCLX uc001tvc.3 Q6J4K2 OTTHUMG00000169566 ENST00000552014.1:c.1135+80A>G chr12.hg19:g.113753059T>C NA A6NP50|Q4KMS9|Q6J4K1|Q9H6I8 hg19 CCDS31909.1 0.02 -0.368309 CTGxACT COVERED NOVEL SLC8B1-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404830.3 9 8.121134 KEEP 0 0 0 27 793 TT 0.999988 0.899303 0 - 6 60 201 0 1 15.484999 36 60 1005 93 ENST00000552014.1 0.142857 0.899314 MIR4472-2 100616309 __UNKNOWN__ __UNKNOWN__ 12 116866062 116866062 __UNKNOWN__ RNA SNP G G A rs538089144 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:116866062G>A ENST00000582069.1 - 0 61 NR_039683.1 microRNA 4472-2 NA NA NA actgcactccggcctgggcga 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 12 2011-09-12 ENSG00000264037 100616309 ncRNAs / Micro RNAs 41752 non-coding RNA RNA, micro NA Standard NR_039683 NR_039683 NA Approved hsa-mir-4472-2 uc021rei.1 ENST00000582069.1: chr12.hg19:g.116866062G>A NA hg19 0.02 1.228398 TCCxGCC COVERED NOVEL MIR4472-2-201 KNOWN basic miRNA NA miRNA 10 4.78099 KEEP 1 2 66 39 1243 GG 1 0.999726 0 - 5 60 133 0 0 7.854825 66 60 2054 203 ENST00000582069.1 0.070423 0.999726 VSIG10 54621 __UNKNOWN__ __UNKNOWN__ 12 118503965 118503965 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:118503965C>T ENST00000359236.5 - 0 2378 NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 NA NA integral component of membrane (GO:0016021) endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 gcaggagaatcgcttgaacct 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS44992.1 12q24.23 2013-01-29 ENSG00000176834 ENSG00000176834 54621 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 26078 protein-coding gene gene with protein product NA 12477932 Standard NM_019086 NM_019086 NA Approved uc001tws.3 Q8N0Z9 ENST00000359236.5:c.*479G>A chr12.hg19:g.118503965C>T NA Q9NWQ7 hg19 CCDS44992.1 0.02 -0.131573 AATxGCT COVERED NOVEL VSIG10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401273.2 5 3.008008 KEEP 0 0 0 10 308 CC 0.992708 0.227502 0 - 3 60 87 0 0 6.872418 12 60 385 33 ENST00000359236.5 0.2 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 118543765 118543765 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:118543765G>A NA NA VSIG10 (1960 upstream) : PEBP1 (29897 downstream) NA NA NA tatttttagtggagacggggt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.118543765G>A NA hg19 0.02 1.346133 AGTxGAG COVERED NOVEL 0 10 2.34278 KEEP 0 1 32 19 688 GG 0.999863 0.963642 0 6 60 177 0 0 12.831127 40 60 1390 109 0.130435 0.963774 RPLP0 6175 __UNKNOWN__ __UNKNOWN__ 12 120638006 120638006 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:120638006A>G ENST00000551150.1 - 1 370 RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000392514.4_Intron|RPLP0_ENST00000228306.4_Intron|RPLP0_ENST00000550296.1_Intron P05388 RLA0_HUMAN ribosomal protein, large, P0 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ggtggctcacacctgtaatcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007187 CCDS9193.1 12q24.2 2011-07-29 ENSG00000089157 ENSG00000089157 6175 L ribosomal proteins 10371 protein-coding gene gene with protein product acidic ribosomal phosphoprotein P0 180510 NA 9582194 Standard NM_053275 NM_053275 NA Approved PRLP0, P0, L10E, RPP0, LP0 uc001txq.3 P05388 OTTHUMG00000169317 ENST00000551150.1:c.54+526T>C chr12.hg19:g.120638006A>G NA Q3B7A4|Q9BVK4 hg19 CCDS9193.1 0.02 3.891693 CACxCCT COVERED NOVEL RPLP0-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403448.3 13 21.790603 KEEP 0 1 36 85 2440 AA 1 0.999968 0 - 5 60 165 0 0 10.532008 84 60 2318 224 ENST00000551150.1 0.05618 0.999968 SIRT4 23409 __UNKNOWN__ __UNKNOWN__ 12 120741242 120741242 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:120741242T>C ENST00000202967.4 + 2 58 NM_012240.2 NP_036372.1 sirtuin 4 NA NA haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) catgccactgtactctagcct 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF083109 CCDS9194.1 12q24.31 2010-06-25 2010-06-25 ENSG00000089163 ENSG00000089163 23409 14932 protein-coding gene gene with protein product 604482 sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4, sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae) NA 10381378 Standard NM_012240 NM_012240 NA Approved SIR2L4 uc001tyc.3 Q9Y6E7 OTTHUMG00000169028 ENST00000202967.4:c.-1-122T>C chr12.hg19:g.120741242T>C NA hg19 CCDS9194.1 0.02 -0.254247 CTGxACT COVERED NOVEL SIRT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402003.1 5 5.843901 KEEP 1 1 36 32 891 TT 0.999998 0.668522 0 + 3 60 101 0 0 7.727958 19 60 498 66 ENST00000202967.4 0.136364 0.668523 HNF1A-AS1 283460 __UNKNOWN__ __UNKNOWN__ 12 121407532 121407532 __UNKNOWN__ RNA SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:121407532T>G ENST00000537361.1 - 0 263 HNF1A antisense RNA 1 NA NA NA gcctcccaaattgctgggatt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK096009 12q24.31 2013-09-04 2012-08-15 2011-04-28 ENSG00000241388 ENSG00000241388 283460 Long non-coding RNAs 26785 non-coding RNA RNA, long non-coding chromosome 12 open reading frame 27, non-protein coding RNA 262, HNF1A antisense RNA 1 (non-protein coding) C12orf27, NCRNA00262 NA 24000294 Standard NR_024345 NR_024345 NA Approved FLJ38690 uc010szm.1 OTTHUMG00000185474 ENST00000537361.1: chr12.hg19:g.121407532T>G NA hg19 0.02 -0.052632 AAAxTGC UNCOVERED NOVEL HNF1A-AS1-002 KNOWN basic antisense NA antisense OTTHUMT00000402490.1 4 3.009221 KEEP 0 0 0 10 319 TT 0.992708 0.036498 0 - 2 49 72 0 0 6.495805 4 60 123 24 ENST00000537361.1 0.333333 0.036766 WDR66 144406 __UNKNOWN__ __UNKNOWN__ 12 122441469 122441469 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:122441469G>A ENST00000288912.4 + 22 4191 NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 NA NA calcium ion binding (GO:0005509) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) acagagcaaggccctgtctca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(85;849 1794 49757 52143) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833930 CCDS41853.1, CCDS53840.1 12q24.31 2014-07-31 ENSG00000158023 ENSG00000158023 144406 WD repeat domain containing 28506 protein-coding gene gene with protein product NA 17967944 Standard NM_144668 NM_001178003 NA Approved MGC33630, CaM-IP4 uc009zxk.3 Q8TBY9 OTTHUMG00000168948 ENST00000288912.4:c.3338-89G>A chr12.hg19:g.122441469G>A NA C9J1W2|Q8IYA3|Q8N898|Q8NDE7 hg19 CCDS41853.1 0.02 1.415322 AAGxCCC COVERED NOVEL WDR66-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401700.1 6 9.930114 KEEP 0 0 0 33 1145 GG 0.999998 0.998865 0 + 5 60 154 0 0 9.97183 65 60 2202 158 ENST00000288912.4 0.071429 0.998867 MLXIP 22877 __UNKNOWN__ __UNKNOWN__ 12 122616749 122616749 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:122616749A>G ENST00000319080.7 + 8 1132 MLX interacting protein NA NA NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) gattacaggcatgagccaccg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(105;787 1493 16200 18566 52466) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020674 CCDS73540.1 12q21.31 2013-05-21 ENSG00000175727 22877 Basic helix-loop-helix proteins 17055 protein-coding gene gene with protein product 608090 NA 10048485, 11073985 Standard NM_014938 XM_006719290 NA Approved MONDOA, KIAA0867, MIR, bHLHe36 uc001ubq.3 Q9HAP2 ENST00000319080.7:c.1001-90A>G chr12.hg19:g.122616749A>G NA hg19 0.02 1.730838 GGCxTGA COVERED NOVEL MLXIP-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000401718.2 14 3.581752 KEEP 2 2 72 37 1163 AA 1 0.998695 0 + 4 60 134 0 0 8.7593 62 60 1805 154 ENST00000319080.7 0.060606 0.998696 RP11-512M8.5 0 __UNKNOWN__ __UNKNOWN__ 12 122709455 122709455 __UNKNOWN__ Intron SNP C C A rs531190124 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:122709455C>A ENST00000535844.1 - 13 1609 DIABLO_ENST00000413918.1_Intron|DIABLO_ENST00000443649.3_Intron|DIABLO_ENST00000464942.2_5'UTR|DIABLO_ENST00000353548.6_Intron|DIABLO_ENST00000267169.6_Intron NA NA NA caggagttcacgaccagcctg 0.527 NA C||| 2 0.000399361 0 0 5008 , , NA 17353 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000535844.1:c.1595-6511G>T chr12.hg19:g.122709455C>A NA hg19 0.02 3.049108 TCAxGAC COVERED NOVEL RP11-512M8.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000401605.1 19 25.237809 KEEP 0 3 100 119 3981 CC 1 1 0 - 6 60 174 0 0 9.854594 118 60 3779 351 ENST00000535844.1 0.048387 1 VPS33A 65082 __UNKNOWN__ __UNKNOWN__ 12 122724359 122724359 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:122724359C>T ENST00000267199.4 - 9 1277 RP11-512M8.5_ENST00000535844.1_Intron NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) NA NA lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192) early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AATTGGTTTTCTGGCTATAAT 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 133 108 116 NA NA NA 12 NA NA 122724359 692 1591 2283 SO:0001627 intron_variant AK026048 CCDS9231.1 12q24.31 2008-06-23 2006-04-04 ENSG00000139719 ENSG00000139719 65082 18179 protein-coding gene gene with protein product 610034 vacuolar protein sorting 33A (yeast) NA 11250079 Standard NM_022916 NA Approved uc001ucd.3 Q96AX1 OTTHUMG00000168920 ENST00000267199.4:c.1164+65G>A chr12.hg19:g.122724359C>T NA Q547V4|Q9H5Q0 hg19 CCDS9231.1 0.02 -0.359668 TTTxTGG COVERED NOVEL VPS33A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401607.2 10 8.727799 KEEP 0 0 0 29 1012 CC 0.999997 0.888873 0 - 3 60 95 0 0 6.306786 37 60 1269 86 ENST00000267199.4 0.075 0.888875 CLIP1 6249 __UNKNOWN__ __UNKNOWN__ 12 122893234 122893234 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:122893234T>C ENST00000537178.1 - 1 112 CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000358808.2_Intron P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 NA NA microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810) cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630) metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270) NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) aggctggtcttgaactcctgg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9232.1, CCDS9233.1, CCDS58285.1 12q24.3 2013-01-17 2007-01-05 2007-01-05 ENSG00000130779 ENSG00000130779 6249 10461 protein-coding gene gene with protein product restin 179838 restin (Reed-Steinberg cell-expressed intermediate filament-associated protein) RSN NA 8222754 Standard NM_002956 NM_001247997 NA Approved CYLN1, CLIP170, CLIP, CLIP-170 uc001ucg.2 P30622 OTTHUMG00000168922 ENST00000537178.1:c.105+13833A>G chr12.hg19:g.122893234T>C NA A0AVD3|Q17RS4|Q29RG0 hg19 CCDS9233.1 0.02 -0.184165 TCTxGAA COVERED NOVEL CLIP1-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000401620.1 11 3.007862 KEEP 0 0 0 10 305 TT 0.992708 0.42039 0 - 3 60 98 0 0 7.6336 16 60 456 43 ENST00000537178.1 0.157895 0.423478 RSRC2 65117 __UNKNOWN__ __UNKNOWN__ 12 122995491 122995491 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:122995491T>G ENST00000331738.7 - 7 951 RSRC2_ENST00000354654.2_Intron|RSRC2_ENST00000392442.2_Intron NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 NA NA poly(A) RNA binding (GO:0044822) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) agctactcggtaggctgaggt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161432 CCDS31920.1 12q24.31 2007-02-13 ENSG00000111011 ENSG00000111011 65117 30559 protein-coding gene gene with protein product NA 17203224 Standard NM_023012 NM_023012 NA Approved FLJ11021 uc001ucr.3 Q7L4I2 OTTHUMG00000167572 ENST00000331738.7:c.805+164A>C chr12.hg19:g.122995491T>G NA Q6N040|Q6NW16|Q9H864 hg19 CCDS31920.1 0.02 -0.236743 CGGxAGG COVERED NOVEL RSRC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395096.3 0 5.114605 KEEP 0 0 0 17 500 TT 0.999366 0.612019 0 - 3 60 99 0 0 7.406345 21 70 561 48 ENST00000331738.7 0.125 0.612407 KNTC1 9735 __UNKNOWN__ __UNKNOWN__ 12 123065311 123065311 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:123065311T>C ENST00000450485.2 + 26 2417 KNTC1_ENST00000333479.7_Intron P50748 KNTC1_HUMAN kinetochore associated 1 NA NA mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) cgcagtggcttacccctgtaa 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45002.1 12q24.31 2013-01-17 ENSG00000184445 ENSG00000184445 9735 17255 protein-coding gene gene with protein product rough deal homolog (Drosophila) 607363 NA 11146660, 11590237 Standard NM_014708 NA Approved KIAA0166, ROD uc001ucv.3 P50748 OTTHUMG00000168861 ENST00000450485.2:c.2271+6384T>C chr12.hg19:g.123065311T>C NA A7E2C4|B3KSG2 hg19 0.02 -0.192922 GCTxACC COVERED NOVEL KNTC1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396109.2 0 3.609838 KEEP 0 0 0 12 350 TT 0.993634 0.454842 0 + 3 60 99 0 0 7.661199 17 60 476 44 ENST00000450485.2 0.15 0.457757 KNTC1 9735 __UNKNOWN__ __UNKNOWN__ 12 123065314 123065314 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:123065314C>G ENST00000450485.2 + 26 2417 KNTC1_ENST00000333479.7_Intron P50748 KNTC1_HUMAN kinetochore associated 1 NA NA mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) agtggcttacccctgtaatcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45002.1 12q24.31 2013-01-17 ENSG00000184445 ENSG00000184445 9735 17255 protein-coding gene gene with protein product rough deal homolog (Drosophila) 607363 NA 11146660, 11590237 Standard NM_014708 NA Approved KIAA0166, ROD uc001ucv.3 P50748 OTTHUMG00000168861 ENST00000450485.2:c.2271+6387C>G chr12.hg19:g.123065314C>G NA A7E2C4|B3KSG2 hg19 0.02 -0.175437 TACxCCT COVERED NOVEL KNTC1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396109.2 0 3.611864 KEEP 0 0 0 12 431 CC 0.993634 0.420782 0 + 3 60 99 0 0 7.73317 16 60 524 44 ENST00000450485.2 0.157895 0.423478 SBNO1 55206 __UNKNOWN__ __UNKNOWN__ 12 123804236 123804236 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:123804236C>A ENST00000602398.1 - 20 2927 SBNO1_ENST00000602750.1_Intron|SBNO1_ENST00000420886.2_Intron|SBNO1_ENST00000267176.4_Intron A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) NA NA regulation of transcription, DNA-templated (GO:0006355) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) aattacaggcctgagccactg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001563 CCDS9246.1, CCDS53844.1 12q24.31 2006-10-06 2006-10-06 ENSG00000139697 55206 22973 protein-coding gene gene with protein product 614274 sno, strawberry notch homolog 1 (Drosophila) NA Standard NM_018183 NM_018183 NA Approved MOP3, FLJ10701, FLJ10833, Sno uc010tap.2 A3KN83 ENST00000602398.1:c.2799+210G>T chr12.hg19:g.123804236C>A NA Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2 hg19 CCDS53844.1 0.02 -0.05263 GGCxTGA UNCOVERED NOVEL SBNO1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000467684.1 1 3.009752 KEEP 0 0 0 10 352 CC 0.992708 0.043467 0 - 3 60 90 0 0 8.624478 3 60 101 25 ENST00000602398.1 0.5 0.043787 SBNO1 55206 __UNKNOWN__ __UNKNOWN__ 12 123815739 123815739 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:123815739A>G ENST00000602398.1 - 8 1171 SBNO1_ENST00000602750.1_Intron|SBNO1_ENST00000420886.2_Intron|SBNO1_ENST00000267176.4_Intron A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) NA NA regulation of transcription, DNA-templated (GO:0006355) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) tcgatctcctaacctcgtgat 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 75 63 67 NA NA NA 12 NA NA 123815739 2203 4300 6503 SO:0001627 intron_variant AK001563 CCDS9246.1, CCDS53844.1 12q24.31 2006-10-06 2006-10-06 ENSG00000139697 55206 22973 protein-coding gene gene with protein product 614274 sno, strawberry notch homolog 1 (Drosophila) NA Standard NM_018183 NM_018183 NA Approved MOP3, FLJ10701, FLJ10833, Sno uc010tap.2 A3KN83 ENST00000602398.1:c.1043+49T>C chr12.hg19:g.123815739A>G NA Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2 hg19 CCDS53844.1 0.02 1.923827 CCTxACC COVERED NOVEL SBNO1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000467684.1 9 8.75904 KEEP 0 1 37 42 1263 AA 1 0.97082 0 - 4 60 139 0 0 9.794357 45 60 1257 120 ENST00000602398.1 0.081633 0.97082 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123875311 123875311 __UNKNOWN__ Silent SNP C C T rs74356260 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:123875311C>T ENST00000402868.3 + 3 693 c.267C>T c.(265-267)gcC>gcT p.A89A SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Silent_p.A89A Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 130 NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) p.A89A(4) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) AACCATTAGCCGGAATCTACA 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - coding silent(4) prostate(3)|central_nervous_system(1) 105 100 101 NA NA NA 12 NA NA 123875311 2203 4300 6503 SO:0001819 synonymous_variant AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.267C>T chr12.hg19:g.123875311C>T NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 1.336491 AGCxGGA COVERED NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 2 21.537338 KEEP 0 2 61 93 3153 CC 1 0.999678 0 + 7 60 216 0 0 14.448817 78 60 2483 249 ENST00000402868.3 0.082353 0.999678 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123879769 123879769 __UNKNOWN__ Silent SNP A A G rs139953522 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:123879769A>G ENST00000402868.3 + 4 891 c.465A>G c.(463-465)caA>caG p.Q155Q SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Silent_p.Q155Q Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 196 NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) TCGCCAAGCAAGCCCTGAAAA 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 19 21 20 NA NA NA 12 NA NA 123879769 2203 4296 6499 SO:0001819 synonymous_variant AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.465A>G chr12.hg19:g.123879769A>G NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 1.736627 GCAxGCC COVERED NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 1 21.400107 KEEP 1 1 34 83 2669 AA 1 0.992094 0 + 4 40 127 0 0 8.231698 56 60 1672 188 ENST00000402868.3 0.066667 0.992094 GTF2H3 2967 __UNKNOWN__ __UNKNOWN__ 12 124146248 124146248 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:124146248A>G ENST00000543341.2 + 0 2424 NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032) core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654) damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135) breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) ttgggaggccaaggtgggtgg 0.527 NA Nucleotide excision repair (NER) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(176;111 2022 3038 14733 36962) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z30093 CCDS9252.1, CCDS61275.1, CCDS73544.1 12q24.31 2012-11-05 2002-08-29 ENSG00000111358 ENSG00000111358 2967 General transcription factors, General transcription factor IIH complex subunits 4657 protein-coding gene gene with protein product 601750 general transcription factor IIH, polypeptide 3 (34kD subunit) NA 8194529 Standard NM_001516 NM_001516 NA Approved BTF2, TFIIH, P34 uc001ufo.2 Q13889 OTTHUMG00000168697 ENST00000543341.2:c.*1466A>G chr12.hg19:g.124146248A>G NA B2R819|B4DNZ6|Q7L0G0|Q96AT7 hg19 CCDS9252.1 0.02 1.622536 GCCxAGG COVERED NOVEL GTF2H3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400641.2 16 9.62859 KEEP 0 0 0 32 988 AA 0.999997 0.998693 0 + 5 60 158 0 0 10.434288 63 60 1825 167 ENST00000543341.2 0.073529 0.998696 GTF2H3 2967 __UNKNOWN__ __UNKNOWN__ 12 124146366 124146366 __UNKNOWN__ 3'UTR SNP T T A rs574760089 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:124146366T>A ENST00000543341.2 + 0 2542 NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032) core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654) damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135) breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) agctcggctctctgcaagctc 0.532 NA Nucleotide excision repair (NER) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(176;111 2022 3038 14733 36962) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z30093 CCDS9252.1, CCDS61275.1, CCDS73544.1 12q24.31 2012-11-05 2002-08-29 ENSG00000111358 ENSG00000111358 2967 General transcription factors, General transcription factor IIH complex subunits 4657 protein-coding gene gene with protein product 601750 general transcription factor IIH, polypeptide 3 (34kD subunit) NA 8194529 Standard NM_001516 NM_001516 NA Approved BTF2, TFIIH, P34 uc001ufo.2 Q13889 OTTHUMG00000168697 ENST00000543341.2:c.*1584T>A chr12.hg19:g.124146366T>A NA B2R819|B4DNZ6|Q7L0G0|Q96AT7 hg19 CCDS9252.1 0.02 1.107648 CTCxCTG COVERED NOVEL GTF2H3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400641.2 2 4.046831 KEEP 0 1 33 25 785 TT 0.999957 0.995041 0 + 5 60 126 0 0 7.497064 56 60 1663 104 ENST00000543341.2 0.081967 0.995084 ULK1 8408 __UNKNOWN__ __UNKNOWN__ 12 132397931 132397931 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:132397931T>C ENST00000321867.4 + 14 1508 NM_003565.2 NP_003556 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 NA NA autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594) ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969) ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137) breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) agcgagactctgtctcaaaaa 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF045458 CCDS9274.1 12q24.3 2014-02-12 2013-07-02 ENSG00000177169 ENSG00000177169 8408 12558 protein-coding gene gene with protein product ATG1 autophagy related 1 homolog (S. cerevisiae) 603168 unc-51 (C. elegans)-like kinase 1, unc-51-like kinase 1 (C. elegans) NA 9693035 Standard NM_003565 NA Approved ATG1, ATG1A uc001uje.3 O75385 OTTHUMG00000168052 ENST00000321867.4:c.1157+128T>C chr12.hg19:g.132397931T>C NA Q9UQ28 hg19 CCDS9274.1 0.02 -0.263058 CTCxGTC COVERED NOVEL ULK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397769.3 1 3.911365 KEEP 0 0 0 13 398 TT 0.994391 0.689777 0 + 3 60 95 0 1 6.895509 23 60 641 63 ENST00000321867.4 0.115385 0.693668 EP400 57634 __UNKNOWN__ __UNKNOWN__ 12 132512681 132512681 __UNKNOWN__ Silent SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:132512681C>T ENST00000389561.2 + 27 5338 c.5229C>T c.(5227-5229)agC>agT p.S1743S EP400_ENST00000333577.4_Silent_p.S1779S|EP400_ENST00000330386.6_Silent_p.S1662S|EP400_ENST00000389562.2_Silent_p.S1742S|EP400_ENST00000332482.4_Silent_p.S1706S NM_015409.4 NP_056224.3 Q96L91 EP400_HUMAN E1A binding protein p400 1779 NA chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967) NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCTGCCTAGCCATGGAAGGG 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 79 76 77 NA NA NA 12 NA NA 132512681 2203 4300 6503 SO:0001819 synonymous_variant U80743 CCDS31929.1, CCDS31929.2 12q24.33 2008-02-01 2002-02-05 2002-02-08 ENSG00000183495 57634 11958 protein-coding gene gene with protein product 606265 trinucleotide repeat containing 12 TNRC12 NA 9225980, 11509179 Standard NM_015409 NM_015409 NA Approved CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225 uc001ujn.3 Q96L91 ENST00000389561.2:c.5229C>T chr12.hg19:g.132512681C>T NA O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230 hg19 CCDS31929.2 0.02 3.079379 TAGxCAT COVERED NOVEL EP400-204 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding 1 44.510533 KEEP 0 0 0 148 5253 CC 1 0.999978 0 + 73 60 2151 0 0 223.517241 29 60 963 352 ENST00000389561.2 0.715686 0.999978 ZNF605 100289635 __UNKNOWN__ __UNKNOWN__ 12 133506304 133506304 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:133506304A>G ENST00000392321.3 - 5 455 ZNF605_ENST00000360187.4_Intron|ZNF605_ENST00000331711.7_Intron NM_001164715.1 NP_001158187.1 Q86T29 ZN605_HUMAN zinc finger protein 605 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00227)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06) aggccgaggcaggcagatcac 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832623 CCDS31938.1, CCDS53850.1 12q24.33 2013-01-08 2009-09-11 2009-09-11 ENSG00000196458 100289635 Zinc fingers, C2H2-type, - 28068 protein-coding gene gene with protein product NA Standard NM_183238 NM_183238 NA Approved uc001uli.3 Q86T29 ENST00000392321.3:c.230-2556T>C chr12.hg19:g.133506304A>G NA B3KVG4|D3DXJ0|Q86T91 hg19 CCDS53850.1 0.02 -0.131525 GGCxGGC COVERED NOVEL ZNF605-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397136.1 5 2.407523 KEEP 1 0 0 8 257 AA 0.99257 0.22747 0 - 3 60 89 0 0 7.073506 12 60 346 34 ENST00000392321.3 0.2 0.229173 ZNF268 10795 __UNKNOWN__ __UNKNOWN__ 12 133759973 133759973 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr12:133759973T>C ENST00000536435.2 + 2 363 ZNF268_ENST00000542711.2_Intron|ZNF268_ENST00000542986.2_Intron|ZNF268_ENST00000541009.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF268_ENST00000539248.2_Intron|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000228289.5_Intron|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000541211.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000536899.2_Intron NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 NA NA cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) gtaatccctgttactcgggag 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X78926 CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1 12q24.33 2013-01-08 ENSG00000090612 10795 Zinc fingers, C2H2-type, - 13061 protein-coding gene gene with protein product 604753 NA 7865130 Standard NM_152943 NM_003415 NA Approved HZF3 uc010tcf.2 Q14587 OTTHUMG00000167946 ENST00000536435.2:c.33+1357T>C chr12.hg19:g.133759973T>C NA Q8TDG8|Q96RH4|Q9BZJ9 hg19 CCDS45012.1 0.02 -0.289429 CTGxTAC COVERED NOVEL ZNF268-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397191.2 7 3.91113 KEEP 0 0 0 13 400 TT 0.994391 0.756619 0 + 3 60 106 0 0 7.708863 29 60 857 64 ENST00000536435.2 0.09375 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19385544 19385544 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:19385544A>G NA NA LINC00418 (91675 upstream) : RP11-38M15.11 (48422 downstream) NA NA NA ggggaattggagcatcagaat 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19385544A>G NA hg19 0.02 1.432562 TGGxGCA COVERED NOVEL 0 1 5.331174 KEEP 33 1 38 31 945 AA 0.999957 0.998422 0 7 23 220 0 0 15.243401 68 51 1976 151 0.093333 0.998465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19385645 19385645 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:19385645T>A NA NA LINC00418 (91776 upstream) : RP11-38M15.11 (48321 downstream) NA NA NA gcaaccatcatagtaataatt 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19385645T>A NA hg19 0.02 2.423165 TCAxAGT COVERED NOVEL 0 5 8.891772 KEEP 13 2 58 50 1519 TT 1 1 0 12 34 313 0 0 19.134865 132 50 3751 294 0.083333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19431946 19431946 __UNKNOWN__ IGR SNP G G A rs2801711 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:19431946G>A NA NA LINC00418 (138077 upstream) : RP11-38M15.11 (2020 downstream) NA NA NA tacccacctcggcctccaaaa 0.383 NA .||| 484 0.0966454 0.0227 0.0807 5008 , , NA 16108 0.0972 NA 0.1451 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19431946G>A NA hg19 0.02 -0.16665 CTCxGCC UNCOVERED NOVEL 0 10 2.407758 KEEP 12 0 0 8 276 GG 0 0 0 3 36 87 0 0 7.332337 8 60 255 53 0.272727 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19689458 19689458 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:19689458A>G NA NA RNA5SP24 (26737 upstream) : RNU6-52P (27663 downstream) NA NA NA agtggctcacacctgtaatcc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19689458A>G NA hg19 0.02 -0.21925 CACxCCT COVERED NOVEL 0 4 6.317618 KEEP 1 0 0 21 631 AA 0.999863 0.552812 0 3 60 97 0 0 7.206075 21 60 611 62 0.125 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19775753 19775753 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:19775753G>A NA NA RP11-408E5.4 (14257 upstream) : RP11-408E5.5 (61183 downstream) NA NA NA TTTTTTTTCTGGATAGCCAGG 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19775753G>A NA hg19 0.02 1.330729 TCTxGAT COVERED NOVEL 0 2 17.591643 KEEP 0 4 115 99 3520 GG 1 0.992926 0 5 21 148 0 0 9.572827 59 60 2060 248 0.078125 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19985426 19985426 __UNKNOWN__ IGR SNP G G T rs28573798 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:19985426G>T NA NA RP11-385E5.5 (1757 upstream) : TPTE2 (11590 downstream) NA NA NA GGGGCTGCAAGTAcagtcctg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19985426G>T NA hg19 0.02 -0.412301 CAAxTAC COVERED NOVEL 0 3 3.721551 KEEP 0 3 81 41 1461 GG 1 0.941741 0 5 40 149 0 0 10.472563 40 60 1366 120 0.111111 0.941741 TPTE2 93492 __UNKNOWN__ __UNKNOWN__ 13 20000598 20000598 __UNKNOWN__ Silent SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:20000598C>G ENST00000382978.1 - 17 1284 c.1242G>C c.(1240-1242)ctG>ctC p.L414L TPTE2_ENST00000390680.2_Silent_p.L377L|TPTE2_ENST00000255310.6_Silent_p.L377L|TPTE2_ENST00000382977.4_Silent_p.L454L|TPTE2_ENST00000400103.2_Silent_p.L343L|TPTE2_ENST00000382975.4_Silent_p.L414L|TPTE2_ENST00000457266.2_Silent_p.L343L|TPTE2_ENST00000400230.2_Silent_p.L454L Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 454 C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}. NA phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CATCATCATACAGAGGTGGAC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 127 121 123 NA NA NA 13 NA NA 20000598 2203 4300 6503 SO:0001819 synonymous_variant AJ421032 CCDS9285.1, CCDS45013.1, CCDS45014.1 13q12.11 2012-12-10 ENSG00000132958 ENSG00000132958 93492 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs 17299 protein-coding gene gene with protein product 606791 NA 11716755, 12717346, 15057823 Standard NM_199254 NM_130785 NA Approved TPIP uc001umd.3 Q6XPS3 OTTHUMG00000016493 ENST00000382978.1:c.1242G>C chr13.hg19:g.20000598C>G NA A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5 hg19 0.02 1.672402 ATAxAGA COVERED NOVEL TPTE2-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000044022.1 10 18.997127 KEEP 7 1 34 75 2675 CC 1 0.999895 0 - 9 60 297 0 0 21.480441 77 60 2637 262 ENST00000382978.1 0.104651 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 20136716 20136716 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:20136716G>A NA NA TPTE2 (25813 upstream) : LINC00350 (24541 downstream) NA NA NA caccagtgtagtcccagcact 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.20136716G>A NA hg19 0.02 1.528808 GTAxTCC COVERED NOVEL 0 14 7.825665 KEEP 0 0 0 26 940 GG 0.999957 0.992883 0 6 60 185 1 0 12.989595 52 60 1814 129 0.103448 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 20387306 20387306 __UNKNOWN__ IGR SNP C C A rs9506385 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:20387306C>A NA NA PSPC1 (30249 upstream) : ZMYM5 (10317 downstream) NA NA NA cgtgatccacccgcctcggcc 0.473 NA C||| 3389 0.676717 0.3275 0.7536 5008 , , NA 14257 0.875 NA 0.7594 False NA ,,, NA NA NA 2504 0.8047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.20387306C>A NA hg19 0.02 -0.061402 CACxCGC UNCOVERED NOVEL 0 4 2.40606 KEEP 1 0 0 8 269 CC 0 0 0 3 60 90 0 0 8.969123 2 60 66 21 0.6 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 21949243 21949243 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:21949243T>A NA NA RNA5SP25 (5205 upstream) : ZDHHC20 (1019 downstream) NA NA NA actgcactcctgcctgggaga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.21949243T>A NA hg19 0.02 1.517496 TCCxGCC COVERED NOVEL 0 7 6.152031 KEEP 0 1 33 32 998 TT 0.999998 0.973963 0 5 60 151 0 0 10.524936 43 60 1284 119 0.104167 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 23275902 23275902 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:23275902C>T NA NA LINC00424 (826197 upstream) : SNORD36 (101381 downstream) NA NA NA ggattacaggcgtgagccacc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.23275902C>T NA hg19 0.02 -0.096479 AGGxGTG UNCOVERED NOVEL 0 3 2.708625 KEEP 1 0 0 9 322 CC 0.99254 0.119538 0 3 60 81 0 0 6.878029 7 60 235 34 0.3 0.120436 MIPEP 4285 __UNKNOWN__ __UNKNOWN__ 13 24330328 24330328 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:24330328A>T ENST00000382172.3 - 18 2143 NM_005932.3 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase NA NA protein processing involved in protein targeting to mitochondrion (GO:0006627) mitochondrion (GO:0005739) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) agttttgctcatgttgcccag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9303.1 13q12 2011-01-17 ENSG00000027001 ENSG00000027001 4285 3.4.24.59 7104 protein-coding gene gene with protein product 602241 NA 9073519 Standard NM_005932 NA Approved MIP uc001uox.4 Q99797 OTTHUMG00000016573 ENST00000382172.3:c.2044+355T>A chr13.hg19:g.24330328A>T NA Q5JV15|Q5T9Q9|Q96G65 hg19 CCDS9303.1 0.02 -0.09647 CTCxTGT UNCOVERED NOVEL MIPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044169.1 3 3.610395 KEEP 1 0 0 12 374 AA 0.993634 0.119669 0 - 3 60 88 0 0 7.432557 8 60 230 30 ENST00000382172.3 0.272727 0.120436 MIPEP 4285 __UNKNOWN__ __UNKNOWN__ 13 24330580 24330580 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:24330580A>G ENST00000382172.3 - 18 2143 NM_005932.3 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase NA NA protein processing involved in protein targeting to mitochondrion (GO:0006627) mitochondrion (GO:0005739) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) acaggcatgaaccaccacacc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9303.1 13q12 2011-01-17 ENSG00000027001 ENSG00000027001 4285 3.4.24.59 7104 protein-coding gene gene with protein product 602241 NA 9073519 Standard NM_005932 NA Approved MIP uc001uox.4 Q99797 OTTHUMG00000016573 ENST00000382172.3:c.2044+103T>C chr13.hg19:g.24330580A>G NA Q5JV15|Q5T9Q9|Q96G65 hg19 CCDS9303.1 0.02 2.040995 TGAxCCA COVERED NOVEL MIPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044169.1 5 12.939443 KEEP 0 0 0 43 1391 AA 1 0.963774 0 - 7 60 239 0 0 18.652482 40 60 1148 118 ENST00000382172.3 0.148936 0.963774 C1QTNF9B 387911 __UNKNOWN__ __UNKNOWN__ 13 24466302 24466302 __UNKNOWN__ Intron SNP A A G rs9510925 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:24466302A>G ENST00000382140.2 - 5 290 C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382137.3_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B NA NA collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 ACAAAGTAGTACACAGGTTCA 0.403 NA G||| 1391 0.277756 0.2345 0.3012 5008 , , NA 16409 0.4692 NA 0.2485 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC110413 CCDS31947.1 13q12.12 2011-05-08 ENSG00000205863 ENSG00000205863 387911 34072 protein-coding gene gene with protein product 614148 NA 17544811 Standard NM_001007537 NM_001007537 NA Approved CTRP9B uc010tcv.1 B2RNN3 OTTHUMG00000016570 ENST00000382140.2:c.230-102T>C chr13.hg19:g.24466302A>G NA A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4 hg19 CCDS31947.1 0.02 -0.096451 AGTxCAC UNCOVERED NOVEL C1QTNF9B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044162.3 1 4.211469 KEEP 1 0 0 14 401 AA 0.995343 0.119875 0 - 3 27 88 0 0 7.432877 8 60 217 27 ENST00000382140.2 0.272727 0.120436 CENPJ 55835 __UNKNOWN__ __UNKNOWN__ 13 25495028 25495028 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:25495028A>G ENST00000381884.4 - 1 120 CENPJ_ENST00000545981.1_Intron NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J NA NA cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599) centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874) protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631) endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) gcctcccaaaatgctgggatt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139625 CCDS9310.1 13q12.12 2013-11-05 ENSG00000151849 ENSG00000151849 55835 17272 protein-coding gene gene with protein product centrosomal P4.1-associated protein 609279 microcephaly, primary autosomal recessive 6 MCPH6 NA 11003675, 22699936 Standard NM_018451 NM_018451 NA Approved CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4 uc001upt.5 Q9HC77 OTTHUMG00000016595 ENST00000381884.4:c.65+1870T>C chr13.hg19:g.25495028A>G NA Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067 hg19 CCDS9310.1 0.02 -0.07017 AAAxTGC UNCOVERED NOVEL CENPJ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044209.1 2 2.407493 KEEP 0 0 0 8 257 AA 0.99257 0.053735 0 - 3 60 101 0 0 9.233043 5 60 149 25 ENST00000381884.4 0.375 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 25591985 25591985 __UNKNOWN__ IGR SNP A A G rs78715395 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:25591985A>G NA NA LSP1 (310 upstream) : PABPC3 (78314 downstream) NA NA NA ATGATTTAATATGGTACTGGG 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.25591985A>G NA hg19 0.02 -0.184057 AATxTGG COVERED NOVEL 0 0 3.008617 KEEP 0 0 0 10 299 AA 0.992708 0.42039 0 4 49 142 0 0 11.670172 17 60 459 38 0.190476 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 25592015 25592015 __UNKNOWN__ IGR SNP T T A rs76922084 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:25592015T>A NA NA LSP1 (340 upstream) : PABPC3 (78284 downstream) NA NA NA AGCCATCCGATCACAAGTGCT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.25592015T>A NA hg19 0.02 -0.175399 CGAxCAC COVERED NOVEL 0 0 3.008272 KEEP 0 0 0 10 297 TT 0.992708 0.384582 0 3 49 89 0 0 6.734148 16 60 466 43 0.157895 0.387407 AMER2 219287 __UNKNOWN__ __UNKNOWN__ 13 25738072 25738072 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:25738072T>C ENST00000357816.2 - 0 7804 Q8N7J2 AMER2_HUMAN APC membrane recruitment protein 2 NA NA ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055) plasma membrane (GO:0005886) phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) NA ggtgaaaccctgtctctacta 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055049 CCDS9312.1, CCDS53859.1 13q12.13 2013-10-11 2012-12-03 2012-12-03 ENSG00000165566 ENSG00000165566 219287 - 26360 protein-coding gene gene with protein product 614659 family with sequence similarity 123A FAM123A NA 20843316 Standard NM_152704 XM_005266279 NA Approved FLJ25477 uc001uqb.3 Q8N7J2 OTTHUMG00000016602 ENST00000357816.2:c.*5670A>G chr13.hg19:g.25738072T>C NA Q5RL80|Q5VX56|Q8N593|Q96NN5 hg19 CCDS9312.1 0.02 -0.166641 CCCxGTC COVERED NOVEL AMER2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044221.2 1 5.717378 KEEP 0 0 0 19 594 TT 0.99986 0.353897 0 - 3 60 92 0 0 7.19241 14 60 421 43 ENST00000357816.2 0.176471 0.353947 RASL11A 387496 __UNKNOWN__ __UNKNOWN__ 13 27844495 27844495 __UNKNOWN__ 5'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:27844495A>G ENST00000241463.4 + 0 32 NM_206827.1 NP_996563.1 RAS-like, family 11, member A NA NA breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 10 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) ttacaggcgtaagccaccgcg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY439004 CCDS9321.1 13q12.2 2014-05-09 ENSG00000122035 ENSG00000122035 387496 23802 protein-coding gene gene with protein product 612403 NA 15033445 Standard NM_206827 NM_206827 NA Approved uc001urd.1 Q6T310 OTTHUMG00000016627 ENST00000241463.4:c.-587A>G chr13.hg19:g.27844495A>G NA hg19 CCDS9321.1 0.02 -0.210399 CGTxAGC COVERED NOVEL RASL11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044265.2 2 8.721127 KEEP 0 0 0 29 863 AA 0.999997 0.52216 0 + 4 60 138 0 0 11.095418 19 60 506 61 ENST00000241463.4 0.173913 0.522161 FLT3 2322 __UNKNOWN__ __UNKNOWN__ 13 28602362 28602362 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:28602362C>T ENST00000241453.7 - 16 2087 c.2006G>A c.(2005-2007)gGa>gAa p.G669E FLT3_ENST00000537084.1_Missense_Mutation_p.G669E|FLT3_ENST00000380982.4_Missense_Mutation_p.G669E NM_004119.2 NP_004110.2 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 669 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084) endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCGTGGCTTCCCAGCTGGGT 0.448 NA Mis, O AML, ALL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 13 13q12 2322 fms-related tyrosine kinase 3 L 0 100 82 88 NA NA NA 13 NA NA 28602362 2203 4300 6503 SO:0001583 missense U02687 CCDS31953.1 13q12 2014-09-17 ENSG00000122025 ENSG00000122025 2322 2.7.10.1 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3765 protein-coding gene gene with protein product 136351 NA 8394751 Standard NM_004119 NA Approved STK1, FLK2, CD135 uc001urw.3 P36888 OTTHUMG00000016646 ENST00000241453.7:c.2006G>A chr13.hg19:g.28602362C>T ENSP00000241453:p.Gly669Glu NA A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414 hg19 CCDS31953.1 0.02 -0.280106 CTTxCCA COVERED . . . . . . . . . . C 29.4 5.005023 0.93287 . . ENSG00000122025 ENST00000241453;ENST00000380982;ENST00000537084 D;D;D 0.89343 -2.5;-2.5;-2.5 5.71 5.71 0.89125 Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.64402 D 0.000002 D 0.93058 0.7790 L 0.47078 1.49 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.999 D 0.93317 0.6689 10 0.87932 D 0 . 19.851 0.96740 0.0:1.0:0.0:0.0 . 669;669 P36888-2;P36888 .;FLT3_HUMAN E 669 ENSP00000241453:G669E;ENSP00000370369:G669E;ENSP00000438139:G669E ENSP00000241453:G669E G - 2 0 FLT3 27500362 1.000000 0.71417 0.993000 0.49108 0.783000 0.44284 7.814000 0.86154 2.688000 0.91661 0.555000 0.69702 GGA NOVEL FLT3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000044319.2 3 3.912256 KEEP 0 0 0 13 446 CC 0.994391 0.735522 0 - 4 60 99 0 0 6.584456 28 60 891 63 ENST00000241453.7 0.125 0.739671 KATNAL1 84056 __UNKNOWN__ __UNKNOWN__ 13 30779982 30779982 __UNKNOWN__ 3'UTR SNP A A G rs112146305 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:30779982A>G ENST00000380615.3 - 0 4335 NM_032116.4 NP_115492.1 katanin p60 subunit A-like 1 NA NA autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) gtgtgtgtgtatgtgtgtgta 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097423 CCDS31956.1 13q12.3 2010-04-21 ENSG00000102781 ENSG00000102781 84056 ATPases / AAA-type 28361 protein-coding gene gene with protein product 614764 NA 12477932 Standard NM_032116 NM_001014380 NA Approved MGC2599 uc001uss.4 Q9BW62 OTTHUMG00000016665 ENST00000380615.3:c.*2695T>C chr13.hg19:g.30779982A>G NA hg19 CCDS31956.1 0.02 5.709422 TGTxTGT COVERED NOVEL KATNAL1-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044346.2 63 20.955714 KEEP 0 2 63 92 2631 AA 1 1 0 - 9 60 307 0 0 20.334494 137 60 3711 324 ENST00000380615.3 0.061644 1 KATNAL1 84056 __UNKNOWN__ __UNKNOWN__ 13 30779992 30779992 __UNKNOWN__ 3'UTR SNP A A G rs9508676 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:30779992A>G ENST00000380615.3 - 0 4325 NM_032116.4 NP_115492.1 katanin p60 subunit A-like 1 NA NA autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) atgtgtgtgtatgtgtgtctg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097423 CCDS31956.1 13q12.3 2010-04-21 ENSG00000102781 ENSG00000102781 84056 ATPases / AAA-type 28361 protein-coding gene gene with protein product 614764 NA 12477932 Standard NM_032116 NM_001014380 NA Approved MGC2599 uc001uss.4 Q9BW62 OTTHUMG00000016665 ENST00000380615.3:c.*2685T>C chr13.hg19:g.30779992A>G NA hg19 CCDS31956.1 0.02 5.468602 TGTxTGT COVERED NOVEL KATNAL1-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044346.2 67 26.288813 KEEP 0 1 33 99 2975 AA 1 1 0 - 8 60 275 0 1 17.513269 153 60 4190 351 ENST00000380615.3 0.049689 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 31024179 31024179 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:31024179G>C NA NA LINC01058 (27805 upstream) : HMGB1 (8704 downstream) NA NA NA ggaggcggaggttgcagtgag 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.31024179G>C NA hg19 0.02 -0.140313 GAGxTTG COVERED NOVEL 0 6 2.407375 KEEP 2 0 0 8 271 GG 0.99257 0.289832 0 3 60 88 0 0 7.18248 10 60 336 41 0.230769 0.292001 BRCA2 675 __UNKNOWN__ __UNKNOWN__ 13 32936392 32936392 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:32936392T>C ENST00000380152.3 + 17 8038 BRCA2_ENST00000544455.1_Intron P51587 BRCA2_HUMAN breast cancer 2, early onset NA NA brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283) BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141) gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) gtctcaaacttctggcctcaa 0.448 NA D, Mis, N, F, S breast, ovarian, pancreatic breast, ovarian, pancreatic, leukemia (FANCB, FANCD1) Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) yes Rec yes Hereditary breast/ovarian cancer 13 13q12 675 familial breast/ovarian cancer gene 2 L, E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups) U43746 CCDS9344.1 13q12-q13 2014-09-17 2003-10-14 ENSG00000139618 ENSG00000139618 675 Fanconi anemia, complementation groups 1101 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 2 600185 Fanconi anemia, complementation group D1 FANCD1, FACD, FANCD NA 8091231, 7581463, 15057823 Standard NM_000059 NM_000059 NA Approved FAD, FAD1, BRCC2 uc001uub.1 P51587 OTTHUMG00000017411 ENST00000380152.3:c.7806-268T>C chr13.hg19:g.32936392T>C NA O00183|O15008|Q13879|Q5TBJ7 hg19 CCDS9344.1 0.02 -0.201696 ACTxCTG COVERED NOVEL BRCA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046000.2 6 2.706676 KEEP 1 0 0 9 277 TT 0.99257 0.4869 0 + 3 60 106 0 0 8.226954 19 60 552 44 ENST00000380152.3 0.136364 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 34314739 34314739 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:34314739T>C NA NA RP11-141M1.3 (63834 upstream) : RFC3 (77446 downstream) NA NA NA agtgcagtggtacgatcttgg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.34314739T>C NA hg19 0.02 -0.245496 TGGxACG UNCOVERED NOVEL 0 38 2.707315 KEEP 21 0 0 9 268 TT 0 0 0 4 20 135 0 1 10.562871 22 60 607 56 0.153846 0.641347 NBEA 26960 __UNKNOWN__ __UNKNOWN__ 13 35832581 35832581 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:35832581A>G ENST00000379939.2 + 33 5928 NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron Q8NFP9 NBEA_HUMAN neurobeachin NA NA protein localization (GO:0008104) cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) gattacaggcatgagccacca 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF467288 CCDS45026.1, CCDS55894.1 13q13 2014-09-17 ENSG00000172915 ENSG00000172915 26960 A-kinase anchor proteins, WD repeat domain containing 7648 protein-coding gene gene with protein product 604889 NA 10501977 Standard NM_015678 NM_015678 NA Approved KIAA1544, BCL8B, FLJ10197 uc021ric.1 Q8NFP9 OTTHUMG00000016724 ENST00000379939.2:c.5767+25825A>G chr13.hg19:g.35832581A>G NA B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1 hg19 0.02 -0.122795 GGCxTGA COVERED NOVEL NBEA-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000044460.1 3 2.407256 KEEP 0 0 0 8 248 AA 0.99257 0.194853 0 + 3 60 99 0 0 8.172869 11 60 331 29 ENST00000379939.2 0.214286 0.196312 FOXO1 2308 __UNKNOWN__ __UNKNOWN__ 13 41158510 41158510 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:41158510T>C ENST00000379561.5 - 2 1015 NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 NA NA apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625) PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) cctgtaatcctagcactttgg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9371.1 13q14.1 2011-08-01 2007-05-02 2007-05-02 ENSG00000150907 ENSG00000150907 2308 Forkhead boxes 3819 protein-coding gene gene with protein product 136533 forkhead homolog in rhabdomyosarcoma FKHR, FOXO1A NA 8275086, 15057823 Standard NM_002015 NM_002015 NA Approved FKH1 uc001uxl.4 Q12778 OTTHUMG00000016775 ENST00000379561.5:c.631-23513A>G chr13.hg19:g.41158510T>C NA O43523|Q5VYC7|Q6NSK6 hg19 CCDS9371.1 0.02 -0.166637 TCCxAGC COVERED NOVEL FOXO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044634.3 3 3.008485 KEEP 0 0 0 10 302 TT 0.992708 0.351366 0 - 3 60 98 1 0 7.879265 13 60 386 39 ENST00000379561.5 0.1875 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 41635083 41635083 __UNKNOWN__ IGR SNP T T C rs201585769 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:41635083T>C NA NA ELF1 (41633 upstream) : WBP4 (326 downstream) NA NA NA ccgccgccgctgctgctgccC 0.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.41635083T>C NA hg19 0.02 -0.148834 CGCxGCT COVERED NOVEL 0 0 2.474339 KEEP 0 2 65 31 935 TT 0.999998 0.292 0 8 60 233 0 0 22.27739 8 60 221 68 0.5 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 42073983 42073983 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:42073983A>G NA NA RGCC (28965 upstream) : VWA8 (66989 downstream) NA NA NA cactttgggaagcctaggtgg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.42073983A>G NA hg19 0.02 -0.166631 GGAxGCC COVERED NOVEL 0 3 3.912319 KEEP 0 0 0 13 429 AA 0.994391 0.351961 0 3 60 99 0 0 7.810344 15 60 452 50 0.166667 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 42538878 42538878 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:42538878A>G NA NA VWA8 (3622 upstream) : DGKH (75297 downstream) NA NA NA tgtaatcccaacactttggga 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.42538878A>G NA hg19 0.02 -0.043858 CCAxCAC UNCOVERED NOVEL 0 4 2.407657 KEEP 2 0 0 8 268 AA 0.99257 0.023895 0 2 60 69 1 0 6.392944 3 60 92 24 0.4 0.024074 DGKH 160851 __UNKNOWN__ __UNKNOWN__ 13 42746185 42746185 __UNKNOWN__ Intron SNP T T C rs546560112 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:42746185T>C ENST00000337343.4 + 12 1388 DGKH_ENST00000540693.1_Intron|DGKH_ENST00000261491.5_Intron|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000498255.2_Intron|DGKH_ENST00000379274.2_Intron|DGKH_ENST00000536612.1_Intron NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259) cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) aggatggtcttgatctcctga 0.527 NA T||| 2 0.000399361 0.0015 0 5008 , , NA 14032 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB078967 CCDS9381.1, CCDS9382.1, CCDS55898.1 13q13.3 2013-01-10 ENSG00000102780 ENSG00000102780 160851 Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing 2854 protein-coding gene gene with protein product 604071 NA 8702685 Standard NM_178009 XM_005266271 NA Approved DGKeta uc001uyl.2 Q86XP1 OTTHUMG00000016804 ENST00000337343.4:c.1368-2011T>C chr13.hg19:g.42746185T>C NA A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9 hg19 CCDS9381.1 0.02 -0.148895 TCTxGAT UNCOVERED NOVEL DGKH-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044699.2 6 2.406882 KEEP 8 0 0 8 238 TT 0 0 0 + 4 60 124 0 0 10.53492 11 60 296 42 ENST00000337343.4 0.266667 0.292001 SUCLA2 8803 __UNKNOWN__ __UNKNOWN__ 13 48517254 48517254 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:48517254G>A ENST00000378654.3 - 0 1700 SUCLA2_ENST00000544100.1_3'UTR NM_003850.2 NP_003841.1 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit NA NA cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) TGCAAGTTACGTTTTGTAGGA 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF058953 CCDS9406.1 13q12.2-q13.3 2010-04-16 ENSG00000136143 ENSG00000136143 8803 6.2.1.5 11448 protein-coding gene gene with protein product 603921 NA 9765291 Standard NM_003850 NA Approved uc001vbs.3 Q9P2R7 OTTHUMG00000016889 ENST00000378654.3:c.*252C>T chr13.hg19:g.48517254G>A NA B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7 hg19 CCDS9406.1 0.02 -0.236828 TACxTTT COVERED NOVEL SUCLA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044852.1 1 9.327818 KEEP 0 0 0 31 1041 GG 0.999997 0.612405 0 - 3 60 94 0 0 6.795047 23 60 729 82 ENST00000378654.3 0.115385 0.612407 MED4 29079 __UNKNOWN__ __UNKNOWN__ 13 48667792 48667792 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:48667792C>G ENST00000258648.2 - 1 151 MED4_ENST00000378586.1_Intron NM_014166.3 NP_054885.1 Q9NPJ6 MED4_HUMAN mediator complex subunit 4 NA NA androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809) endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;5.18e-07) ccaaagtgctcggattatagg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(38;399 1016 9170 13426 20145) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161475 CCDS9408.1, CCDS59241.1 13q14.12 2008-02-05 2007-07-30 2004-11-09 ENSG00000136146 ENSG00000136146 29079 17903 protein-coding gene gene with protein product 605718 vitamin D receptor interacting protein, mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae) VDRIP NA 10235266, 11042152 Standard NM_014166 NM_014166 NA Approved HSPC126, DRIP36, TRAP36 uc001vby.2 Q9NPJ6 OTTHUMG00000016891 ENST00000258648.2:c.125+1297G>C chr13.hg19:g.48667792C>G NA B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5 hg19 CCDS9408.1 0.02 3.628219 GCTxGGA COVERED NOVEL MED4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000044863.1 25 15.320316 KEEP 1 15 526 235 7498 CC 1 1 0 - 7 60 245 0 0 16.309737 111 60 3503 492 ENST00000258648.2 0.059322 1 SETDB2 83852 __UNKNOWN__ __UNKNOWN__ 13 50057752 50057752 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:50057752T>C ENST00000317257.8 + 11 2343 SETDB2_ENST00000354234.4_Intron|SETDB2_ENST00000258672.5_Intron NM_031915.2 NP_114121.2 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 NA NA chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892) chromosome (GO:0005694)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) TAAAttttttttttttttttt 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF334407 CCDS9417.1, CCDS53868.1 13q14 2011-07-01 2003-05-06 2003-05-09 ENSG00000136169 ENSG00000136169 83852 Chromatin-modifying enzymes / K-methyltransferases 20263 protein-coding gene gene with protein product 607865 chromosome 13 open reading frame 4 C13orf4 NA 11306461 Standard NM_031915 NM_031915 NA Approved CLLD8, CLLL8, KMT1F uc001vda.3 Q96T68 OTTHUMG00000016918 ENST00000317257.8:c.1518+53T>C chr13.hg19:g.50057752T>C NA Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6 hg19 CCDS9417.1 0.02 -0.184171 TTTxTTT COVERED NOVEL SETDB2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000044925.1 22 8.122422 KEEP 7 0 0 27 807 TT 0.999957 0.423459 0 + 3 60 103 0 0 8.57297 11 60 322 74 ENST00000317257.8 0.214286 0.423478 SPRYD7 57213 __UNKNOWN__ __UNKNOWN__ 13 50487701 50487701 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:50487701T>C ENST00000361840.3 - 0 2193 SPRYD7_ENST00000378195.2_3'UTR NM_020456.2 NP_065189.1 Q5W111 SPRY7_HUMAN SPRY domain containing 7 NA NA haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2) 6 ctctgttgcctaggctggagt 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF055016 CCDS9422.1, CCDS45046.1 13q14.3 2011-05-25 2011-05-25 2011-05-25 ENSG00000123178 ENSG00000123178 57213 14297 protein-coding gene gene with protein product 607866 chromosome 13 open reading frame 1 C13orf1 NA 11306461, 11771308 Standard NM_020456 NM_020456 NA Approved CLLD6 uc001vdl.2 Q5W111 OTTHUMG00000016924 ENST00000361840.3:c.*1498A>G chr13.hg19:g.50487701T>C NA A8K3G1|O60648|Q8TBG8|Q96T69 hg19 CCDS9422.1 0.02 1.921653 GCCxAGG COVERED NOVEL SPRYD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044942.2 9 21.397434 KEEP 0 1 37 84 2579 TT 1 0.998867 0 - 6 60 182 0 0 12.592679 55 60 1539 186 ENST00000361840.3 0.098361 0.998867 TRIM13 10206 __UNKNOWN__ __UNKNOWN__ 13 50575174 50575174 __UNKNOWN__ 5'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:50575174G>C ENST00000356017.4 + 0 321 TRIM13_ENST00000378182.3_Intron|TRIM13_ENST00000420995.2_Intron|TRIM13_ENST00000457662.2_Intron|TRIM13_ENST00000478111.1_Intron O60858 TRI13_HUMAN tripartite motif containing 13 NA NA anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038) ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) gcctgtaatcgcagcactttg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF220127 CCDS9423.1, CCDS41888.1 13q14 2013-01-09 2011-01-25 2006-09-26 ENSG00000204977 ENSG00000204977 10206 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 9976 protein-coding gene gene with protein product 605661 ret finger protein 2, tripartite motif-containing 13 RFP2 NA 9599022 Standard NM_001007278 NM_213590 NA Approved Leu5, RNF77, DLEU5 uc001vdp.1 O60858 OTTHUMG00000016926 ENST00000356017.4:c.-68G>C chr13.hg19:g.50575174G>C NA B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021 hg19 CCDS41888.1 0.02 3.537346 ATCxCAG COVERED NOVEL TRIM13-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000354876.1 16 17.199642 KEEP 0 4 143 107 3784 GG 1 1 0 + 13 60 431 1 0 31.5842 104 60 3473 335 ENST00000356017.4 0.111111 1 TRIM13 10206 __UNKNOWN__ __UNKNOWN__ 13 50587739 50587739 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:50587739G>A ENST00000378182.3 + 0 2401 TRIM13_ENST00000420995.2_3'UTR|TRIM13_ENST00000478111.1_Intron NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 NA NA anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038) ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) gctcactgcagcctctacctc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF220127 CCDS9423.1, CCDS41888.1 13q14 2013-01-09 2011-01-25 2006-09-26 ENSG00000204977 ENSG00000204977 10206 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 9976 protein-coding gene gene with protein product 605661 ret finger protein 2, tripartite motif-containing 13 RFP2 NA 9599022 Standard NM_001007278 NM_213590 NA Approved Leu5, RNF77, DLEU5 uc001vdp.1 O60858 OTTHUMG00000016926 ENST00000378182.3:c.*439G>A chr13.hg19:g.50587739G>A NA B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021 hg19 CCDS9423.1 0.02 -0.078938 GCAxCCT UNCOVERED NOVEL TRIM13-005 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000354875.1 2 2.407916 KEEP 0 0 0 8 287 GG 0.99257 0.076761 0 + 3 60 83 0 0 7.654189 4 60 138 19 ENST00000378182.3 0.428571 0.077336 KCNRG 283518 __UNKNOWN__ __UNKNOWN__ 13 50594971 50594971 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:50594971C>A ENST00000312942.1 + 0 1440 KCNRG_ENST00000360473.4_3'UTR NM_173605.1 NP_775876.1 Q8N5I3 KCNRG_HUMAN potassium channel regulator NA NA protein homooligomerization (GO:0051260) endoplasmic reticulum (GO:0005783) identical protein binding (GO:0042802) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) accttctatgcatgcaacaaa 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9424.1, CCDS41889.1 13q14.11 2008-05-02 ENSG00000198553 ENSG00000198553 283518 18893 protein-coding gene gene with protein product NA Standard NM_173605 NA Approved uc001vdu.3 Q8N5I3 OTTHUMG00000140140 ENST00000312942.1:c.*381C>A chr13.hg19:g.50594971C>A NA A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9 hg19 CCDS9424.1 0.02 -0.429822 ATGxATG COVERED NOVEL KCNRG-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276308.1 13 12.941978 KEEP 0 0 0 43 1527 CC 1 0.954491 0 + 4 60 106 0 0 6.577791 43 60 1457 119 ENST00000312942.1 0.085106 0.954491 DLEU7 220107 __UNKNOWN__ __UNKNOWN__ 13 51397440 51397440 __UNKNOWN__ Intron SNP C C A rs9563002 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:51397440C>A ENST00000400393.3 - 1 752 DLEU7-AS1_ENST00000413510.2_RNA|DLEU7_ENST00000504404.1_3'UTR NM_198989.2 NP_945340.2 Q6UYE1 LEU7_HUMAN deleted in lymphocytic leukemia, 7 NA NA NA Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.25e-08) ACTCCCGATGCCTTTAACACT 0.428 NA C||| 1459 0.291334 0.152 0.3343 5008 , , NA 17990 0.2857 NA 0.494 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK126830 CCDS53869.1 13q14.3 2005-02-22 ENSG00000186047 ENSG00000186047 220107 17567 protein-coding gene gene with protein product NA 14706829 Standard NM_198989 NM_198989 NA Approved FLJ44882 uc001vex.2 Q6UYE1 OTTHUMG00000016936 ENST00000400393.3:c.459+19883G>T chr13.hg19:g.51397440C>A NA Q2M2E4|Q6ZT82 hg19 CCDS53869.1 0.02 1.581449 ATGxCTT COVERED NOVEL DLEU7-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000361815.1 4 28.290877 KEEP 9 0 0 94 3318 CC 1 0.984161 0 - 5 60 151 0 0 10.134186 52 60 1769 217 ENST00000400393.3 0.087719 0.984161 UTP14C 9724 __UNKNOWN__ __UNKNOWN__ 13 52604045 52604045 __UNKNOWN__ Nonsense_Mutation SNP G G T rs373916712 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:52604045G>T ENST00000521776.2 + 2 1838 c.1105G>T c.(1105-1107)Gga>Tga p.G369* NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 369 NA cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283) nucleus (GO:0005634)|small-subunit processome (GO:0032040) breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) GAATGTGGACGGACCGAATCC 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 105 90 95 NA NA NA 13 NA NA 52604045 2203 4300 6503 SO:0001587 stop_gained D87455 CCDS31978.1 13q12.2-q13.3 2010-11-23 2004-06-15 2004-06-16 ENSG00000253797 ENSG00000253797 9724 20321 protein-coding gene gene with protein product 608969 KIAA0266 KIAA0266 NA 9039502, 16354793 Standard NM_021645 NM_021645 NA Approved 2700066J21Rik uc021rjw.1 Q5TAP6 OTTHUMG00000164353 ENST00000521776.2:c.1105G>T chr13.hg19:g.52604045G>T ENSP00000428619:p.Gly369* NA Q5FWG3|Q92555 hg19 CCDS31978.1 0.02 1.362296 GACxGAC COVERED . . . . . . . . . . G 38 6.776510 0.97829 . . ENSG00000253797 ENST00000521776 . . . 2.58 -1.59 0.08453 . 0.296983 0.36972 N 0.002309 . . . . . . 0.80722 D 1 . . . . . . . . . . . . . -4.7391 7.4027 0.26973 0.5117:0.0:0.4883:0.0 . . . . X 369 . . G + 1 0 UTP14C 51502046 0.000000 0.05858 0.000000 0.03702 0.015000 0.08874 -0.550000 0.06034 -0.308000 0.08792 0.448000 0.29417 GGA NOVEL UTP14C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045049.2 4 49.024052 KEEP 0 0 0 163 5351 GG 1 0.999487 0 + 61 60 1815 0 0 189.735551 22 60 711 344 ENST00000521776.2 0.73494 0.999487 CKAP2 26586 __UNKNOWN__ __UNKNOWN__ 13 53034867 53034867 __UNKNOWN__ Intron SNP A A G rs9526922 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:53034867A>G ENST00000378037.5 + 3 245 CKAP2_ENST00000490903.1_Intron|CKAP2_ENST00000378034.3_Intron|CKAP2_ENST00000258607.5_Intron NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 cytoskeleton associated protein 2 NA NA breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) gattacaggcatgagccaccg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF177227 CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1 13q14 2014-03-21 ENSG00000136108 ENSG00000136108 26586 1990 protein-coding gene gene with protein product 611569 NA 9771967 Standard XM_005266343 NA Approved LB1, FLJ10749, se20-10, TMAP uc001vgv.2 Q8WWK9 OTTHUMG00000016967 ENST00000378037.5:c.156-164A>G chr13.hg19:g.53034867A>G NA hg19 CCDS41893.1 0.02 -0.157873 GGCxTGA UNCOVERED NOVEL CKAP2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355010.2 8 2.40693 KEEP 6 0 0 8 242 AA 0 0 0 + 4 60 131 0 0 10.981196 13 60 383 35 ENST00000378037.5 0.235294 0.322807 KLHL1 57626 __UNKNOWN__ __UNKNOWN__ 13 70682088 70682088 __UNKNOWN__ 5'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:70682088A>T ENST00000377844.4 - 0 503 ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 NA NA actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025) actin binding (GO:0003779) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GAGCAGAGGCAGGACTGGGAC 0.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB040923 CCDS9445.1, CCDS73582.1 13q21 2013-01-30 2013-01-30 ENSG00000150361 ENSG00000150361 57626 Kelch-like, BTB/POZ domain containing 6352 protein-coding gene gene with protein product Kelch-like protein 1, Mayven-related protein 2 605332 kelch (Drosophila)-like 1, kelch-like 1 (Drosophila) NA 10888605 Standard NM_020866 NM_020866 NA Approved KIAA1490, MRP2, FLJ30047 uc001vip.3 Q9NR64 OTTHUMG00000017056 ENST00000377844.4:c.-257T>A chr13.hg19:g.70682088A>T NA A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238 hg19 CCDS9445.1 0.02 2.818436 GGCxGGA COVERED NOVEL KLHL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045231.3 2 21.053026 KEEP 0 0 0 70 2170 AA 1 1 0 - 91 60 2728 0 0 275.053066 53 60 1564 309 ENST00000377844.4 0.631944 1 BORA 79866 __UNKNOWN__ __UNKNOWN__ 13 73317633 73317633 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:73317633A>G ENST00000390667.5 + 6 485 BORA_ENST00000377815.3_Intron|BORA_ENST00000464754.1_Intron NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880) cytosol (GO:0005829) protein kinase binding (GO:0019901) NA AAGCAAATGAAGAGTATAAAA 0.269 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 36 34 35 NA NA NA 13 NA NA 73317633 1795 4055 5850 SO:0001627 intron_variant BC025367 CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1 13q22.1 2013-08-13 2011-08-09 2011-08-09 ENSG00000136122 ENSG00000136122 79866 24724 protein-coding gene gene with protein product 610510 chromosome 13 open reading frame 34 C13orf34 NA 16890155, 18378770, 18566290, 19487276 Standard NM_024808 NM_001286746 NA Approved FLJ22624 uc001viv.1 Q6PGQ7 OTTHUMG00000017068 ENST00000390667.5:c.389-42A>G chr13.hg19:g.73317633A>G NA B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640 hg19 CCDS9446.1 0.02 -0.210517 TGAxGAG COVERED NOVEL BORA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045245.3 0 3.912441 KEEP 0 0 0 13 431 AA 0.994391 0.519232 0 + 17 60 580 0 0 59.818632 7 60 204 47 ENST00000390667.5 0.708333 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 77552142 77552142 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:77552142A>G NA NA IRG1 (19365 upstream) : CLN5 (12652 downstream) NA NA NA gaggccaggaatttgagacga 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.77552142A>G NA hg19 0.02 -0.157854 GGAxTTT UNCOVERED NOVEL 0 1 2.407509 KEEP 2 0 0 8 258 AA 0 0 0 3 60 95 0 0 7.492486 14 60 402 41 0.176471 0.322807 SCEL 8796 __UNKNOWN__ __UNKNOWN__ 13 78184323 78184323 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:78184323T>C ENST00000349847.3 + 22 1421 SCEL_ENST00000535157.1_Intron|SCEL_ENST00000469982.1_Intron|SCEL_ENST00000377246.3_Intron NM_144777.2 NP_659001.2 O95171 SCEL_HUMAN sciellin NA NA embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) tgcggtggcttacgcctgtaa 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF045941 CCDS9458.1, CCDS9459.1, CCDS53877.1 13q22 2008-07-18 ENSG00000136155 ENSG00000136155 8796 10573 protein-coding gene gene with protein product 604112 NA 9813070 Standard NM_144777 NM_003843 NA Approved FLJ21667, MGC22531 uc001vki.3 O95171 OTTHUMG00000017107 ENST00000349847.3:c.1337+82T>C chr13.hg19:g.78184323T>C NA B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00 hg19 CCDS9459.1 0.02 1.839363 GCTxACG COVERED NOVEL SCEL-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000045339.2 5 14.439557 KEEP 0 0 0 48 1463 TT 1 0.9982 0 + 5 60 167 0 0 11.366794 62 60 1729 148 ENST00000349847.3 0.074627 0.9982 SCEL 8796 __UNKNOWN__ __UNKNOWN__ 13 78184358 78184358 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:78184358C>T ENST00000349847.3 + 22 1421 SCEL_ENST00000535157.1_Intron|SCEL_ENST00000469982.1_Intron|SCEL_ENST00000377246.3_Intron NM_144777.2 NP_659001.2 O95171 SCEL_HUMAN sciellin NA NA embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) gaggccgaggcgggaggatca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF045941 CCDS9458.1, CCDS9459.1, CCDS53877.1 13q22 2008-07-18 ENSG00000136155 ENSG00000136155 8796 10573 protein-coding gene gene with protein product 604112 NA 9813070 Standard NM_144777 NM_003843 NA Approved FLJ21667, MGC22531 uc001vki.3 O95171 OTTHUMG00000017107 ENST00000349847.3:c.1337+117C>T chr13.hg19:g.78184358C>T NA B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00 hg19 CCDS9459.1 0.02 -0.384911 AGGxGGG COVERED NOVEL SCEL-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000045339.2 4 9.922544 KEEP 0 0 0 33 1014 CC 0.999998 0.918169 0 + 3 60 95 0 0 6.412663 34 60 1032 80 ENST00000349847.3 0.081081 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 80853819 80853819 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:80853819T>C NA NA LINC00382 (361740 upstream) : SPRY2 (56291 downstream) NA NA NA tcgagaccagtctggccaaca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.80853819T>C NA hg19 0.02 -0.14034 CAGxCTG COVERED NOVEL 0 5 2.407605 KEEP 2 0 0 8 262 TT 0.99257 0.259026 0 3 47 104 0 0 8.572174 12 60 360 36 0.2 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 87045925 87045925 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:87045925T>C NA NA RP11-30L8.1 (300900 upstream) : LINC00430 (518247 downstream) NA NA NA tggcggctcatgcctgtaatc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.87045925T>C NA hg19 0.02 -0.254352 TCAxGCC COVERED NOVEL 0 4 2.70798 KEEP 0 0 0 9 289 TT 0.99254 0.663536 0 3 60 100 0 0 7.394786 23 60 687 52 0.115385 0.668523 ABCC4 10257 __UNKNOWN__ __UNKNOWN__ 13 95859105 95859105 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:95859105T>C ENST00000376887.4 - 8 1026 ABCC4_ENST00000412704.1_Intron|ABCC4_ENST00000431522.1_Intron|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000538287.1_Intron NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NA NA blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088) 15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495) gcctgcaatctcagcactttg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U66682 CCDS9474.1 13q31 2012-03-14 ENSG00000125257 ENSG00000125257 10257 ATP binding cassette transporters / subfamily C 55 protein-coding gene gene with protein product canalicular multispecific organic anion transporter (ABC superfamily), bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4), multidrug resistance-associated protein 4, multispecific organic anion transporter B 605250 NA 8894702, 9661885 Standard NM_005845 NM_005845 NA Approved MRP4, EST170205, MOAT-B, MOATB uc001vmd.4 O15439 OTTHUMG00000017216 ENST00000376887.4:c.912-70A>G chr13.hg19:g.95859105T>C NA A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2 hg19 CCDS9474.1 0.02 -0.359551 ATCxCAG COVERED NOVEL ABCC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045478.2 1 5.717121 KEEP 0 0 0 19 597 TT 0.99986 0.88875 0 - 3 60 98 0 0 6.606684 37 60 1084 69 ENST00000376887.4 0.075 0.888875 STK24 8428 __UNKNOWN__ __UNKNOWN__ 13 99188715 99188715 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:99188715T>C ENST00000397517.2 - 2 119 STK24_ENST00000539966.1_Intron|STK24_ENST00000481288.1_Intron NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 NA NA apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) aactcctgggttcaagtgatc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF024636 CCDS9488.1, CCDS32001.1, CCDS66573.1 13q31.2-q32.3 2010-06-25 2010-06-25 ENSG00000102572 ENSG00000102572 8428 11403 protein-coding gene gene with protein product STE20-like kinase 3, sterile 20-like kinase 3 604984 serine/threonine kinase 24 (Ste20, yeast homolog) NA 9353338, 10644707 Standard NM_003576 NM_003576 NA Approved MST-3, MST3, MST3B, STK3, STE20 uc001vnn.1 Q9Y6E0 OTTHUMG00000017250 ENST00000397517.2:c.43-16988A>G chr13.hg19:g.99188715T>C NA O14840|Q5JV92 hg19 CCDS32001.1 0.02 -0.219287 GGGxTCA COVERED NOVEL STK24-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000045548.2 10 3.009336 KEEP 1 0 0 10 325 TT 0.992708 0.548856 0 - 3 60 110 0 0 8.564338 20 60 611 49 ENST00000397517.2 0.130435 0.552887 SLC15A1 6564 __UNKNOWN__ __UNKNOWN__ 13 99373279 99373279 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:99373279G>C ENST00000376503.5 - 7 612 NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 NA NA digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610) gcgctccagcgtgggtgacag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U13173 CCDS9489.1 13q32.3 2013-05-22 ENSG00000088386 ENSG00000088386 6564 Solute carriers 10920 protein-coding gene gene with protein product peptide transporter HPEPT1, bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1), solute carrier family 15 oligopeptide transporter member 1 600544 NA 7896779 Standard NM_005073 NM_005073 NA Approved PEPT1, HPECT1, HPEPT1 uc001vno.3 P46059 OTTHUMG00000017255 ENST00000376503.5:c.556+469C>G chr13.hg19:g.99373279G>C NA Q5VW82 hg19 CCDS9489.1 0.02 5.842302 AGCxTGG COVERED NOVEL SLC15A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045560.3 34 20.530582 KEEP 1 2 71 93 3129 GG 1 1 0 - 9 60 312 0 0 20.508297 149 60 4857 384 ENST00000376503.5 0.056962 1 UBAC2 337867 __UNKNOWN__ __UNKNOWN__ 13 99906047 99906047 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:99906047C>T ENST00000403766.3 + 4 524 UBAC2_ENST00000376440.2_Intron NM_001144072.1 NP_001137544.1 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 NA NA protein localization to endoplasmic reticulum (GO:0070972) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ggattacaggcgtgagccacc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055110 CCDS9490.1, CCDS45064.1 13q32.3 2012-02-01 2007-04-20 2007-04-20 ENSG00000134882 ENSG00000134882 337867 20486 protein-coding gene gene with protein product phosphoglycerate dehydrogenase like 1 PHGDHL1 NA Standard NM_177967 NM_177967 NA Approved FLJ30548, RP11-178C10.1 uc001voa.4 Q8NBM4 OTTHUMG00000017267 ENST00000403766.3:c.389+9169C>T chr13.hg19:g.99906047C>T NA B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2 hg19 CCDS45064.1 0.02 -0.280708 AGGxGTG COVERED NOVEL UBAC2-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045588.1 8 3.009745 KEEP 2 0 0 10 350 CC 0.992708 0.734278 0 + 3 60 92 0 0 6.649437 22 60 736 62 ENST00000403766.3 0.12 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 110513785 110513785 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:110513785A>G NA NA IRS2 (74870 upstream) : RN7SKP10 (53657 downstream) NA NA NA ggtggctcacacctgtaatcc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.110513785A>G NA hg19 0.02 -0.184193 CACxCCT COVERED NOVEL 0 5 2.708266 KEEP 0 0 0 9 283 AA 0.99254 0.454342 0 3 60 97 0 0 7.460893 17 60 512 47 0.15 0.457757 COL4A1 1282 __UNKNOWN__ __UNKNOWN__ 13 110857984 110857984 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:110857984T>C ENST00000375820.4 - 16 980 COL4A1_ENST00000543140.1_Intron NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 NA NA axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304) basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) ccgaggtgggtggatcacctg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J04217 CCDS9511.1 13q34 2013-09-05 ENSG00000187498 ENSG00000187498 1282 Collagens 2202 protein-coding gene gene with protein product 120130 NA 3691802 Standard NM_001845 NA Approved uc001vqw.4 P02462 OTTHUMG00000017342 ENST00000375820.4:c.859-99A>G chr13.hg19:g.110857984T>C NA A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5 hg19 CCDS9511.1 0.02 1.716032 GGGxGGA COVERED NOVEL COL4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045759.3 7 6.018309 KEEP 0 0 0 20 635 TT 0.999863 0.976731 0 - 4 60 128 0 0 8.771514 43 60 1227 82 ENST00000375820.4 0.085106 0.976865 COL4A1 1282 __UNKNOWN__ __UNKNOWN__ 13 110941107 110941107 __UNKNOWN__ Intron SNP G G A rs9559761 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:110941107G>A ENST00000375820.4 - 1 206 COL4A1_ENST00000543140.1_Intron NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 NA NA axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304) basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAggccaggcgcggtggctca 0.557 NA G||| 1110 0.221645 0.0227 0.3775 5008 , , NA 16430 0.2748 NA 0.3221 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J04217 CCDS9511.1 13q34 2013-09-05 ENSG00000187498 ENSG00000187498 1282 Collagens 2202 protein-coding gene gene with protein product 120130 NA 3691802 Standard NM_001845 NA Approved uc001vqw.4 P02462 OTTHUMG00000017342 ENST00000375820.4:c.84+18183C>T chr13.hg19:g.110941107G>A NA A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5 hg19 CCDS9511.1 0.02 -0.236719 GGCxCGG COVERED NOVEL COL4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045759.3 5 3.30333 KEEP 5 0 0 11 374 GG 0.99257 0.607857 0 - 13 60 385 0 0 36.868802 13 60 387 53 ENST00000375820.4 0.5 0.612407 CARS2 79587 __UNKNOWN__ __UNKNOWN__ 13 111353659 111353659 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:111353659T>C ENST00000257347.4 - 3 457 CARS2_ENST00000535398.1_Intron NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) NA NA cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418) cytosol (GO:0005829)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) gatccacctgtcttggcctcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007220 CCDS9514.1 13q34 2011-07-01 2007-02-22 ENSG00000134905 ENSG00000134905 79587 6.1.1.16 Aminoacyl tRNA synthetases / Class I 25695 protein-coding gene gene with protein product cysteine tRNA ligase 2, mitochondrial (putative) 612800 NA 15779907 Standard NM_024537 NM_024537 NA Approved FLJ12118 uc001vrd.2 Q9HA77 OTTHUMG00000017347 ENST00000257347.4:c.393+125A>G chr13.hg19:g.111353659T>C NA Q8NI84|Q96IV4 hg19 CCDS9514.1 0.02 1.91822 CTGxCTT COVERED NOVEL CARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045772.3 7 5.715027 KEEP 0 0 0 19 551 TT 0.99986 0.994283 0 - 4 60 128 0 0 8.361351 55 60 1585 107 ENST00000257347.4 0.067797 0.994422 ING1 3621 __UNKNOWN__ __UNKNOWN__ 13 111369912 111369912 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:111369912T>A ENST00000333219.7 + 2 1008 ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375774.3_Intron|ING1_ENST00000375775.3_Intron NM_001267728.1|NM_198219.2 NP_001254657.1|NP_937862.1 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 NA NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941) nucleus (GO:0005634) methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) ggtggctcactcctgtaatcc 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1 13q34 2013-01-28 ENSG00000153487 ENSG00000153487 3621 Zinc fingers, PHD-type 6062 protein-coding gene gene with protein product inhibitor of growth 1, tumor suppressor ING1, growth inhibitor ING1, growth inhibitory protein ING1 601566 NA 8944021, 9186514 Standard NM_005537 NM_198219 NA Approved p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a uc001vri.3 Q9UK53 OTTHUMG00000017346 ENST00000333219.7:c.137-1664T>A chr13.hg19:g.111369912T>A NA O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52 hg19 CCDS9516.1 0.02 -0.149103 CACxCCT COVERED NOVEL ING1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045767.1 5 2.407365 KEEP 0 0 0 8 255 TT 0.99257 0.320408 0 + 3 60 87 0 0 7.201219 9 60 268 35 ENST00000333219.7 0.25 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 111605185 111605185 __UNKNOWN__ IGR SNP G G A rs371396898 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:111605185G>A NA NA ANKRD10 (37769 upstream) : LINC00431 (30468 downstream) NA NA NA AGATCACGTTGGAGTCGGCCC 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.111605185G>A NA hg19 0.02 1.234386 GTTxGAG COVERED NOVEL 0 1 4.384442 KEEP 0 2 67 38 1315 GG 1 0.998465 0 5 40 151 0 0 9.516171 70 60 2318 150 0.066667 0.998465 ARHGEF7 8874 __UNKNOWN__ __UNKNOWN__ 13 111953538 111953538 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:111953538T>C ENST00000218789.5 + 20 2437 ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000375736.4_Intron Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 NA NA apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) tcaggtgatctgcccgcctcg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D63476 CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1 13q33.3 2013-01-10 ENSG00000102606 ENSG00000102606 8874 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 15607 protein-coding gene gene with protein product SH3 domain-containing proline-rich protein, PAK-interacting exchange factor beta, rho, guanine nucleotide exchange factor 7 605477 NA 9207241, 9726964 Standard NM_001113511 NM_003899 NA Approved KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50 uc001vrs.2 Q14155 OTTHUMG00000017357 ENST00000218789.5:c.1941-287T>C chr13.hg19:g.111953538T>C NA B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1 hg19 0.02 -0.289434 ATCxGCC COVERED NOVEL ARHGEF7-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000045805.3 7 3.00733 KEEP 2 0 0 10 287 TT 0.992708 0.755338 0 + 3 60 96 0 0 6.893404 25 60 743 62 ENST00000218789.5 0.107143 0.760887 SPACA7 122258 __UNKNOWN__ __UNKNOWN__ 13 113036684 113036684 __UNKNOWN__ 5'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:113036684C>T ENST00000375699.3 + 0 93 SPACA7_ENST00000283550.3_Intron Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 NA NA acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576) large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 agtgctgggactacaggcatg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC016750 CCDS9524.1 13q34 2013-10-11 2011-03-15 2011-03-15 ENSG00000153498 ENSG00000153498 122258 29575 protein-coding gene gene with protein product chromosome 13 open reading frame 28 C13orf28 NA 22495889 Standard NM_145248 NM_145248 NA Approved uc001vsd.2 Q96KW9 OTTHUMG00000017365 ENST00000375699.3:c.-80C>T chr13.hg19:g.113036684C>T NA Q5T8L1 hg19 0.02 1.157725 GGAxTAC COVERED NOVEL SPACA7-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000045823.1 10 3.746996 KEEP 2 1 30 23 835 CC 0.999909 0.999829 0 + 5 60 148 0 0 8.886692 82 60 2842 176 ENST00000375699.3 0.057471 0.999919 MCF2L 23263 __UNKNOWN__ __UNKNOWN__ 13 113564235 113564235 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:113564235A>G ENST00000397036.1 + 0 846 MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375608.3_Intron O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) gattacaggcatgagccactg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002360 CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2 13q34 2013-01-10 ENSG00000126217 ENSG00000126217 23263 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14576 protein-coding gene gene with protein product 609499 NA 9205841 Standard NM_001112732 NA Approved KIAA0362, DBS, OST, ARHGEF14 uc010tjr.2 O15068 OTTHUMG00000017377 ENST00000397036.1:c.*643A>G chr13.hg19:g.113564235A>G NA A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679 hg19 0.02 1.765924 GGCxTGA COVERED NOVEL MCF2L-015 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000045863.2 8 3.610699 KEEP 1 0 0 12 372 AA 0.993072 0.990642 0 + 6 60 197 0 0 13.922598 58 60 1701 112 ENST00000397036.1 0.09375 0.997553 PROZ 8858 __UNKNOWN__ __UNKNOWN__ 13 113818544 113818544 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:113818544G>A ENST00000342783.4 + 6 446 PROZ_ENST00000375547.2_Intron NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein NA NA blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508) endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252) NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) cgcccacctcggcctcccaaa 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M55670 CCDS9531.1, CCDS58300.1 13q34 2008-07-18 ENSG00000126231 ENSG00000126231 8858 9460 protein-coding gene gene with protein product 176895 NA 2244898, 2403355 Standard NM_003891 NM_001256134 NA Approved PZ uc010agr.2 P22891 OTTHUMG00000017376 ENST00000342783.4:c.440-283G>A chr13.hg19:g.113818544G>A NA A6NMB4|Q15213|Q5JVF5|Q5JVF6 hg19 CCDS58300.1 0.02 -0.377176 CTCxGCC UNCOVERED NOVEL PROZ-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000045846.1 25 2.407765 KEEP 14 0 0 8 278 GG 0 0 0 + 4 23 110 1 2 7.362703 34 60 1135 93 ENST00000342783.4 0.105263 0.909069 CUL4A 8451 __UNKNOWN__ __UNKNOWN__ 13 113899613 113899613 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:113899613T>C ENST00000375440.4 + 14 1614 CUL4A_ENST00000375441.3_Intron|CUL4A_ENST00000326335.4_Intron|CUL4A_ENST00000451881.1_Intron NM_001008895.1 NP_001008895.1 Q13619 CUL4A_HUMAN cullin 4A NA NA cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) tggtggctcatgcctgtaatc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U58090 CCDS9533.1, CCDS41908.1, CCDS73604.1 13q34 2011-05-24 ENSG00000139842 ENSG00000139842 8451 2554 protein-coding gene gene with protein product 603137 NA 8681378 Standard NM_003589 NM_001008895 NA Approved uc021rmv.1 Q13619 OTTHUMG00000017384 ENST00000375440.4:c.1530+62T>C chr13.hg19:g.113899613T>C NA A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17 hg19 CCDS41908.1 0.02 3.584053 TCAxGCC COVERED NOVEL CUL4A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045888.3 8 9.628417 KEEP 0 0 0 32 997 TT 0.999997 0.999975 0 + 5 60 161 1 0 10.010116 89 60 2637 182 ENST00000375440.4 0.053191 0.999978 UPF3A 65110 __UNKNOWN__ __UNKNOWN__ 13 115048528 115048528 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr13:115048528T>C ENST00000375299.3 + 3 477 UPF3A_ENST00000351487.5_Intron NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) gacagggtcttgctctgttgc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF318575 CCDS9543.1, CCDS9544.1 13q34 2010-04-30 ENSG00000169062 ENSG00000169062 65110 20332 protein-coding gene gene with protein product 605530 NA 11113196, 11163187 Standard NM_023011 NA Approved RENT3A, UPF3, HUPF3A uc001vup.3 Q9H1J1 OTTHUMG00000017403 ENST00000375299.3:c.421+110T>C chr13.hg19:g.115048528T>C NA A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8 hg19 CCDS9543.1 0.02 1.622623 TCTxGCT COVERED NOVEL UPF3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045968.2 7 7.833196 KEEP 1 1 31 37 1074 TT 1 0.998695 0 + 4 60 135 0 0 8.779768 65 60 1883 139 ENST00000375299.3 0.057971 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19168674 19168674 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:19168674A>G NA NA RNU6-458P (49053 upstream) : CR383657.1 (85173 downstream) NA NA NA ccagctacttaggaggctgag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19168674A>G NA hg19 0.02 -0.175325 CTTxGGA UNCOVERED NOVEL 0 10 2.407423 KEEP 3 0 0 8 255 AA 0 0 0 5 49 168 0 0 14.432367 14 50 399 35 0.263158 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19168688 19168688 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:19168688A>G NA NA RNU6-458P (49067 upstream) : CR383657.1 (85159 downstream) NA NA NA ggctgaggcaagagaatttct 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19168688A>G NA hg19 0.02 -0.201736 GCAxGAG UNCOVERED NOVEL 0 11 2.708545 KEEP 3 0 0 9 296 AA 0 0 0 3 49 99 1 0 7.527216 19 50 578 43 0.136364 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19440989 19440989 __UNKNOWN__ IGR SNP A A G rs201460585 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:19440989A>G NA NA RP11-536C10.16 (27091 upstream) : MED15P1 (58856 downstream) NA NA NA tccgggagacagaggttgcag 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19440989A>G NA hg19 0.02 -0.228032 GACxGAG COVERED NOVEL 0 7 3.00947 KEEP 1 0 0 10 326 AA 0.99254 0.578582 0 3 51 90 0 0 6.833858 16 60 478 51 0.157895 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19777531 19777531 __UNKNOWN__ IGR SNP T T C rs200013694 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:19777531T>C NA NA RP11-496I2.2 (34787 upstream) : RP11-146E13.4 (34644 downstream) NA NA NA ctttgggaggtcaaggcgggc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19777531T>C NA hg19 0.02 1.783633 AGGxCAA COVERED NOVEL 0 11 3.611137 KEEP 4 0 0 12 384 TT 0.993634 0.98989 0 15 60 491 0 0 42.264556 40 51 1164 118 0.272727 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19777549 19777549 __UNKNOWN__ IGR SNP A A G rs200939690 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:19777549A>G NA NA RP11-496I2.2 (34805 upstream) : RP11-146E13.4 (34626 downstream) NA NA NA ggcagatcacaaggtcaggag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19777549A>G NA hg19 0.02 1.742403 CACxAGG COVERED NOVEL 0 5 2.705831 KEEP 3 0 0 9 241 AA 0.99254 0.956584 0 10 60 296 0 0 24.133901 34 51 918 83 0.227273 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 20085422 20085422 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:20085422C>T NA NA MED15P6 (11956 upstream) : RP11-597A11.1 (68 downstream) NA NA NA TGTATAGGTACGTTTGTGTGC 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.20085422C>T NA hg19 0.02 2.87959 GTAxGTT COVERED NOVEL 0 17 4.119647 KEEP 37 3 101 49 1716 CC 1 1 0 8 24 250 0 1 15.888677 118 60 3888 328 0.063492 1 RP11-597A11.1 0 __UNKNOWN__ __UNKNOWN__ 14 20094829 20094829 __UNKNOWN__ RNA SNP G G A rs201742618 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:20094829G>A ENST00000548261.1 + 0 245 NA NA NA ACCCTCCTGTGAGGACAGCCA 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548261.1: chr14.hg19:g.20094829G>A NA hg19 0.02 -0.411943 TGTxAGG COVERED NOVEL RP11-597A11.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409571.1 4 3.309151 KEEP 2 0 0 11 387 GG 0.993072 0.935217 0 + 8 47 214 0 0 15.994972 38 48 1264 88 ENST00000548261.1 0.173913 0.941741 RP11-597A11.1 0 __UNKNOWN__ __UNKNOWN__ 14 20098703 20098703 __UNKNOWN__ RNA SNP C C T rs9652318 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:20098703C>T ENST00000548261.1 + 0 245 NA NA NA TGTAGCGTTACATACTTGGTT 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548261.1: chr14.hg19:g.20098703C>T NA hg19 0.02 2.386591 TTAxATA COVERED NOVEL RP11-597A11.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409571.1 4 4.98875 KEEP 16 5 146 68 2466 CC 1 1 0 + 11 27 300 0 0 18.689613 125 60 4263 310 ENST00000548261.1 0.080882 1 RP11-597A11.1 0 __UNKNOWN__ __UNKNOWN__ 14 20101894 20101894 __UNKNOWN__ RNA SNP G G A rs199605414 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:20101894G>A ENST00000548261.1 + 0 245 NA NA NA ccaacatggtgaaaccccgtc 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548261.1: chr14.hg19:g.20101894G>A NA hg19 0.02 1.357559 GGTxAAA COVERED NOVEL RP11-597A11.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409571.1 10 3.611534 KEEP 11 0 0 12 405 GG 0.993634 0.983243 0 + 8 60 215 1 1 15.355006 48 51 1537 111 ENST00000548261.1 0.142857 0.989542 RP11-597A11.6 0 __UNKNOWN__ __UNKNOWN__ 14 20146601 20146601 __UNKNOWN__ lincRNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:20146601G>A ENST00000555580.1 - 0 225 NA NA NA CGTCAGTTACGCCCAGGACTT 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000555580.1: chr14.hg19:g.20146601G>A NA hg19 0.02 4.64088 TACxCCC COVERED NOVEL RP11-597A11.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000409767.1 10 17.358962 KEEP 8 3 101 93 3099 GG 1 1 0 - 18 49 555 0 0 40.20239 132 60 4152 345 ENST00000555580.1 0.12 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 20228250 20228250 __UNKNOWN__ IGR SNP C C A rs61976671 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:20228250C>A NA NA OR4Q3 (11722 upstream) : snoU13 (3815 downstream) NA NA NA AAGATGATTGCAGACTTTGTT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.20228250C>A NA hg19 0.02 4.642901 TTGxAGA COVERED NOVEL 0 9 4.432189 KEEP 13 9 295 118 4233 CC 1 1 0 17 40 514 0 0 34.511157 177 60 5963 451 0.087629 1 CHD8 57680 __UNKNOWN__ __UNKNOWN__ 14 21875944 21875944 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:21875944C>T ENST00000557364.1 - 13 2994 CHD8_ENST00000399982.2_Intron|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 NA NA ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) atttttatatctttagtagag 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046784 CCDS45081.1, CCDS53885.1 14q11.2 2008-02-05 2004-06-22 2004-06-23 ENSG00000100888 57680 20153 protein-coding gene gene with protein product 610528 helicase with SNF2 domain 1 HELSNF1 NA 10997877 Standard NM_020920 NM_020920 NA Approved KIAA1564, DUPLIN uc001war.2 Q9HCK8 ENST00000557364.1:c.2730+526G>A chr14.hg19:g.21875944C>T NA Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26 hg19 CCDS53885.1 0.02 -0.131144 TATxTTT COVERED NOVEL CHD8-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000410436.1 5 2.403156 KEEP 1 0 0 8 262 CC 0.99257 0.22747 0 - 3 60 81 0 0 6.731991 8 60 270 31 ENST00000557364.1 0.272727 0.229173 CHD8 57680 __UNKNOWN__ __UNKNOWN__ 14 21897686 21897686 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:21897686A>G ENST00000557364.1 - 3 1107 CHD8_ENST00000430710.3_Intron|CHD8_ENST00000399982.2_Intron|CHD8_ENST00000555962.1_Intron|RN7SL650P_ENST00000583681.1_RNA Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 NA NA ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) gtctcgctgtattgcccaggc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046784 CCDS45081.1, CCDS53885.1 14q11.2 2008-02-05 2004-06-22 2004-06-23 ENSG00000100888 57680 20153 protein-coding gene gene with protein product 610528 helicase with SNF2 domain 1 HELSNF1 NA 10997877 Standard NM_020920 NM_020920 NA Approved KIAA1564, DUPLIN uc001war.2 Q9HCK8 ENST00000557364.1:c.844-192T>C chr14.hg19:g.21897686A>G NA Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26 hg19 CCDS53885.1 0.02 -0.140296 TGTxTTG COVERED NOVEL CHD8-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000410436.1 4 4.211282 KEEP 0 0 0 14 412 AA 0.995343 0.290641 0 - 3 60 101 0 0 8.179257 13 60 363 40 ENST00000557364.1 0.1875 0.292001 RAB2B 84932 __UNKNOWN__ __UNKNOWN__ 14 21928485 21928485 __UNKNOWN__ 3'UTR SNP A A G rs61973205 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:21928485A>G ENST00000397762.1 - 0 1621 NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family NA NA positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) GTP binding (GO:0005525) NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) ggtggctcacacctgtaatcc 0.458 NA G||| 971 0.19389 0.3994 0.2651 5008 , , NA 16160 0.0645 NA 0.1421 False NA ,,, NA NA NA 2504 0.0521 NA NA NA Melanoma(131;1007 1750 28652 34486 42672) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027730 CCDS9570.1 14q11.1 2006-12-18 ENSG00000129472 ENSG00000129472 84932 RAB, member RAS oncogene 20246 protein-coding gene gene with protein product 607466 NA 12376746 Standard NM_032846 NA Approved FLJ14824 uc010tlt.2 Q8WUD1 OTTHUMG00000029693 ENST00000397762.1:c.*870T>C chr14.hg19:g.21928485A>G NA B2RD03|D3DS24|Q6NZ33 hg19 CCDS9570.1 0.02 3.461829 CACxCCT COVERED 434 0.1987179487179487 187 0.3800813008130081 96 0.26519337016574585 34 0.05944055944055944 117 0.15435356200527706 G 0.912 -0.718728 0.03182 . . ENSG00000129472 ENST00000304034 . . . 0.122 0.122 0.14702 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.38178 -0.9673 3 0.87932 D 0 . . . . rs61973205 . . . A 209 . ENSP00000302005:V209A V - 2 0 RAB2B 20998325 0.002000 0.14202 0.004000 0.12327 0.004000 0.04260 -0.851000 0.04313 -1.035000 0.03291 -1.026000 0.02426 GTG NOVEL RAB2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074053.4 21 17.112941 KEEP 0 2 72 82 2407 AA 1 1 0 - 6 60 199 0 0 12.015639 134 70 3892 338 ENST00000397762.1 0.042857 1 RAB2B 84932 __UNKNOWN__ __UNKNOWN__ 14 21928516 21928516 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:21928516T>C ENST00000397762.1 - 0 1590 NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family NA NA positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) GTP binding (GO:0005525) NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) gaggccaaggtgggcggatca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(131;1007 1750 28652 34486 42672) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027730 CCDS9570.1 14q11.1 2006-12-18 ENSG00000129472 ENSG00000129472 84932 RAB, member RAS oncogene 20246 protein-coding gene gene with protein product 607466 NA 12376746 Standard NM_032846 NA Approved FLJ14824 uc010tlt.2 Q8WUD1 OTTHUMG00000029693 ENST00000397762.1:c.*839A>G chr14.hg19:g.21928516T>C NA B2RD03|D3DS24|Q6NZ33 hg19 CCDS9570.1 0.02 1.274671 AGGxGGG COVERED NOVEL RAB2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074053.4 6 11.466625 KEEP 0 1 31 49 1522 TT 1 0.999895 0 - 5 60 151 0 0 9.135274 84 60 2460 167 ENST00000397762.1 0.05618 0.999895 RAB2B 84932 __UNKNOWN__ __UNKNOWN__ 14 21928520 21928520 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:21928520C>T ENST00000397762.1 - 0 1586 NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family NA NA positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) GTP binding (GO:0005525) NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) ccaaggtgggcggatcacgag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(131;1007 1750 28652 34486 42672) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027730 CCDS9570.1 14q11.1 2006-12-18 ENSG00000129472 ENSG00000129472 84932 RAB, member RAS oncogene 20246 protein-coding gene gene with protein product 607466 NA 12376746 Standard NM_032846 NA Approved FLJ14824 uc010tlt.2 Q8WUD1 OTTHUMG00000029693 ENST00000397762.1:c.*835G>A chr14.hg19:g.21928520C>T NA B2RD03|D3DS24|Q6NZ33 hg19 CCDS9570.1 0.02 1.236893 GGGxGGA COVERED NOVEL RAB2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074053.4 6 14.431157 KEEP 0 0 0 48 1495 CC 1 0.999768 0 - 5 60 145 0 0 8.694855 78 60 2374 154 ENST00000397762.1 0.060241 0.999768 RAB2B 84932 __UNKNOWN__ __UNKNOWN__ 14 21929040 21929040 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:21929040A>G ENST00000397762.1 - 0 1066 NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family NA NA positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) GTP binding (GO:0005525) NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) ccaaagtgctaggattacagg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(131;1007 1750 28652 34486 42672) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027730 CCDS9570.1 14q11.1 2006-12-18 ENSG00000129472 ENSG00000129472 84932 RAB, member RAS oncogene 20246 protein-coding gene gene with protein product 607466 NA 12376746 Standard NM_032846 NA Approved FLJ14824 uc010tlt.2 Q8WUD1 OTTHUMG00000029693 ENST00000397762.1:c.*315T>C chr14.hg19:g.21929040A>G NA B2RD03|D3DS24|Q6NZ33 hg19 CCDS9570.1 0.02 -0.324418 GCTxGGA COVERED NOVEL RAB2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074053.4 5 5.715394 KEEP 1 0 0 19 583 AA 0.99986 0.835599 0 - 3 60 103 1 0 7.287336 32 60 891 80 ENST00000397762.1 0.085714 0.835716 METTL3 56339 __UNKNOWN__ __UNKNOWN__ 14 21974445 21974445 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:21974445T>C ENST00000298717.4 - 2 252 METTL3_ENST00000538267.1_Intron NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 NA NA circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827) MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) cctgtaatcctagcactttgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF014837 CCDS32044.1 14q11.1 2012-06-12 ENSG00000165819 ENSG00000165819 56339 2.1.1.62 17563 protein-coding gene gene with protein product N6-adenosine-methyltransferase 70 kDa subunit 612472 NA Standard NM_019852 XM_006720206 NA Approved Spo8, M6A, MT-A70 uc001wbc.3 Q86U44 OTTHUMG00000168825 ENST00000298717.4:c.101-2421A>G chr14.hg19:g.21974445T>C NA O14736|Q86V05|Q9HB32 hg19 CCDS32044.1 0.02 -0.271877 TCCxAGC COVERED NOVEL METTL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401227.1 5 3.61097 KEEP 0 0 0 12 379 TT 0.993634 0.712749 0 - 3 60 106 0 0 7.843794 26 60 760 58 ENST00000298717.4 0.103448 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22084462 22084462 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:22084462A>G NA NA OR10G3 (45587 upstream) : TRAV1-1 (5528 downstream) NA NA NA gagccaccgcacccggcctta 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22084462A>G NA hg19 0.02 -0.210457 CGCxCCC COVERED NOVEL 0 4 2.406977 KEEP 0 0 0 8 244 AA 0.99257 0.518282 0 3 60 99 0 0 7.592495 18 60 515 49 0.142857 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22965108 22965108 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:22965108G>A NA NA TRAJ43 (159 upstream) : TRAJ42 (763 downstream) NA NA NA AAGTCTGTTAGTTGATGAATT 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22965108G>A NA hg19 0.02 -0.122787 TTAxTTG COVERED NOVEL 0 0 2.407363 KEEP 0 0 0 8 263 GG 0.99257 0.194853 0 7 60 196 0 0 18.722786 7 60 229 25 0.5 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 23059346 23059346 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23059346A>G NA NA DAD1 (1171 upstream) : CTD-2555K7.4 (5368 downstream) NA NA NA gattacaggcatgagccactg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.23059346A>G NA hg19 0.02 -0.131546 GGCxTGA COVERED NOVEL 0 6 2.407219 KEEP 1 0 0 8 249 AA 0.99257 0.22747 0 3 60 103 0 0 8.472431 12 60 340 34 0.2 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 23059355 23059355 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23059355T>C NA NA DAD1 (1180 upstream) : CTD-2555K7.4 (5359 downstream) NA NA NA catgagccactgcacccggcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.23059355T>C NA hg19 0.02 -0.122371 CACxGCA COVERED NOVEL 0 6 2.407401 KEEP 1 0 0 8 253 TT 0.99257 0.22747 0 3 60 98 0 0 8.078519 11 60 306 29 0.214286 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 23132163 23132163 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23132163T>C NA NA OR6J1 (28447 upstream) : CTD-2555K7.2 (39656 downstream) NA NA NA ttttttgagatggagtctccc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.23132163T>C NA hg19 0.02 -0.201646 AGAxGGA COVERED NOVEL 0 7 2.708432 KEEP 0 0 0 9 289 TT 0.99254 0.486885 0 3 60 98 0 0 7.561179 17 60 500 51 0.15 0.490544 CTD-2555K7.2 0 __UNKNOWN__ __UNKNOWN__ 14 23194830 23194830 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23194830C>T ENST00000554857.1 - 0 139 CTD-2555K7.2_ENST00000553792.1_RNA NA NA NA acagacacagcaacaatctga 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000554857.1: chr14.hg19:g.23194830C>T NA hg19 0.02 -0.254396 CAGxAAC UNCOVERED NOVEL CTD-2555K7.2-001 KNOWN basic antisense NA processed_transcript OTTHUMT00000411109.1 7 2.406889 KEEP 7 0 0 8 283 CC 0 0 0 - 4 60 114 0 0 8.324181 24 60 825 62 ENST00000554857.1 0.142857 0.668523 SLC7A7 9056 __UNKNOWN__ __UNKNOWN__ 14 23277836 23277836 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23277836C>T ENST00000397532.3 - 2 1025 SLC7A7_ENST00000397528.4_Intron|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000397529.2_Intron|SLC7A7_ENST00000555702.1_Intron|SLC7A7_ENST00000285850.7_Intron Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) ggcaacatagcgagaccccat 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF092032 CCDS9574.1 14q11.2 2014-09-17 2011-07-12 ENSG00000155465 ENSG00000155465 9056 Solute carriers 11065 protein-coding gene gene with protein product 603593 LPI NA 9829974 Standard NM_001126106 NA Approved y+LAT-1 uc001wgs.4 Q9UM01 OTTHUMG00000028692 ENST00000397532.3:c.499+4272G>A chr14.hg19:g.23277836C>T NA B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5 hg19 CCDS9574.1 0.02 -0.227879 TAGxGAG COVERED NOVEL SLC7A7-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071636.3 10 2.708208 KEEP 0 0 0 9 300 CC 0.99254 0.663536 0 - 4 60 109 0 0 8.116956 20 60 620 50 ENST00000397532.3 0.166667 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 23295407 23295407 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23295407T>C NA NA AL135998.1 (3657 upstream) : MRPL52 (3684 downstream) NA NA NA actcttgttgtccaggctgga 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.23295407T>C NA hg19 0.02 -0.280658 TTGxCCA COVERED NOVEL 0 10 2.707623 KEEP 0 0 0 9 274 TT 0.99254 0.734154 0 4 57 140 0 0 11.136014 21 60 617 56 0.16 0.739671 LRP10 26020 __UNKNOWN__ __UNKNOWN__ 14 23350099 23350099 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23350099T>G ENST00000359591.4 + 0 6196 NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 NA NA endocytosis (GO:0006897) coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) tgtagtcccatctactcggga 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF131760 CCDS9578.1 14q11.2 2013-05-29 ENSG00000197324 ENSG00000197324 26020 Low density lipoprotein receptors 14553 protein-coding gene gene with protein product 609921 NA 11123907 Standard XM_005267510 NA Approved DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087 uc001whd.3 Q7Z4F1 OTTHUMG00000028705 ENST00000359591.4:c.*3363T>G chr14.hg19:g.23350099T>G NA A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33 hg19 CCDS9578.1 0.02 -0.13151 CCAxCTA COVERED NOVEL LRP10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071663.3 5 4.512195 KEEP 0 0 0 15 440 TT 0.99649 0.260049 0 + 3 60 87 0 0 7.201996 9 60 247 35 ENST00000359591.4 0.25 0.260965 HAUS4 54930 __UNKNOWN__ __UNKNOWN__ 14 23416035 23416035 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23416035T>C ENST00000206474.7 - 10 1161 RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Intron|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000342454.8_Intron|HAUS4_ENST00000541587.1_Intron|HAUS4_ENST00000555367.1_Intron|RP11-298I3.5_ENST00000555074.1_Intron Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 NA NA centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 ctctgtcacctaggctggagt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000431 CCDS9580.1, CCDS53886.1 14q11.1 2011-10-24 2009-04-20 2009-04-20 ENSG00000092036 ENSG00000092036 54930 HAUS augmin-like complex subunits 20163 protein-coding gene gene with protein product 613431 chromosome 14 open reading frame 94 C14orf94 NA 19427217 Standard NM_017815 NA Approved FLJ20424 uc001wht.3 Q9H6D7 OTTHUMG00000028710 ENST00000206474.7:c.909-118A>G chr14.hg19:g.23416035T>C NA B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59 hg19 CCDS9580.1 0.02 -0.140315 ACCxAGG COVERED NOVEL HAUS4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071680.3 3 3.610802 KEEP 0 0 0 12 369 TT 0.993634 0.290142 0 - 3 60 102 0 0 8.582304 10 60 282 31 ENST00000206474.7 0.230769 0.292001 HAUS4 54930 __UNKNOWN__ __UNKNOWN__ 14 23423162 23423162 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23423162G>A ENST00000206474.7 - 2 308 RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Intron|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000342454.8_Intron|HAUS4_ENST00000541587.1_Intron|HAUS4_ENST00000555367.1_Intron|RP11-298I3.5_ENST00000555074.1_Intron Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 NA NA centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 tttttagtagggacggggttt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000431 CCDS9580.1, CCDS53886.1 14q11.1 2011-10-24 2009-04-20 2009-04-20 ENSG00000092036 ENSG00000092036 54930 HAUS augmin-like complex subunits 20163 protein-coding gene gene with protein product 613431 chromosome 14 open reading frame 94 C14orf94 NA 19427217 Standard NM_017815 NA Approved FLJ20424 uc001wht.3 Q9H6D7 OTTHUMG00000028710 ENST00000206474.7:c.55+1146C>T chr14.hg19:g.23423162G>A NA B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59 hg19 CCDS9580.1 0.02 -0.175421 TAGxGAC COVERED NOVEL HAUS4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071680.3 7 2.708838 KEEP 2 0 0 9 318 GG 0.99254 0.384517 0 - 3 60 87 0 0 6.461639 17 60 561 45 ENST00000206474.7 0.15 0.387407 RP11-298I3.5 0 __UNKNOWN__ __UNKNOWN__ 14 23434508 23434508 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23434508T>C ENST00000555074.1 - 1 50 NA NA NA caggttcaagtgattctcctg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000555074.1:c.50+16909A>G chr14.hg19:g.23434508T>C NA hg19 0.02 -0.157845 AAGxGAT UNCOVERED NOVEL RP11-298I3.5-001 PUTATIVE mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000413504.2 4 2.406967 KEEP 3 0 0 8 241 TT 0 0 0 - 4 40 116 0 0 9.481535 13 60 370 37 ENST00000555074.1 0.235294 0.353947 EFS 10278 __UNKNOWN__ __UNKNOWN__ 14 23832895 23832895 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:23832895T>C ENST00000216733.3 - 1 626 EFS_ENST00000351354.3_Intron|EFS_ENST00000429593.2_Intron NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate NA NA cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556) cytoplasm (GO:0005737) protein domain specific binding (GO:0019904) endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) gcctgtaatctcagcactttg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB001466 CCDS9595.1, CCDS9596.1, CCDS61404.1 14q11.2-q12 2011-04-13 ENSG00000100842 ENSG00000100842 10278 Cas scaffolding proteins 16898 protein-coding gene gene with protein product Cas scaffolding protein family member 3 609906 NA 9349509 Standard NM_005864 NA Approved EFS2, EFS1, HEFS, SIN, CASS3 uc001wjo.4 O43281 OTTHUMG00000028741 ENST00000216733.3:c.18+1321A>G chr14.hg19:g.23832895T>C NA B2RAJ7|B4DJ56|E9PGU2|O43282 hg19 CCDS9595.1 0.02 -0.289444 ATCxCAG COVERED NOVEL EFS-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071770.2 11 2.407625 KEEP 0 0 0 8 264 TT 0.99257 0.755234 0 - 4 60 128 0 1 9.65769 25 60 755 52 ENST00000216733.3 0.137931 0.760887 DHRS4-AS1 55449 __UNKNOWN__ __UNKNOWN__ 14 24408798 24408798 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:24408798T>C ENST00000354854.1 + 1 859 c.65T>C c.(64-66)cTg>cCg p.L22P DHRS4-AS1_ENST00000556379.1_RNA Q9P1J3 DHAS1_HUMAN DHRS4 antisense RNA 1 22 NA NA caagcacatctgtgtgaagag 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF116636 14q11.2 2013-10-11 2012-08-16 2012-04-30 ENSG00000215256 ENSG00000215256 55449 Long non-coding RNAs 23175 non-coding RNA RNA, long non-coding chromosome 14 open reading frame 167, DHRS4 antisense RNA 1 (non-protein coding) C14orf167 NA 22891334 Standard NR_023921 NR_023924 NA Approved PRO1488, AS1DHRS4 uc001wky.3 Q9P1J3 OTTHUMG00000171901 ENST00000354854.1:c.65T>C chr14.hg19:g.24408798T>C ENSP00000346918:p.Leu22Pro NA hg19 0.02 1.23683 ATCxGTG COVERED . . . . . . . . . . T 0.841 -0.741809 0.03088 . . ENSG00000197775 ENST00000354854 . . . 0.333 -0.666 0.11399 . . . . . T 0.44540 0.1298 . . . . . . . . . . . . T 0.52147 -0.8614 3 0.87932 D 0 . . . . . . . . P 22 . ENSP00000346918:L22P L + 2 0 AL136419.1 23478638 0.004000 0.15560 0.001000 0.08648 0.006000 0.05464 0.447000 0.21710 -0.575000 0.05982 -0.569000 0.04157 CTG NOVEL DHRS4-AS1-201 KNOWN basic|appris_principal protein_coding NA protein_coding 9 6.590143 KEEP 0 2 69 46 1450 TT 1 0.999678 0 + 4 60 128 0 0 7.752561 79 60 2386 191 ENST00000354854.1 0.048193 0.999678 TINF2 26277 __UNKNOWN__ __UNKNOWN__ 14 24710738 24710738 __UNKNOWN__ Intron SNP G G A rs566687570 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:24710738G>A ENST00000559019.1 - 1 492 TINF2_ENST00000540705.1_Intron|TINF2_ENST00000399423.4_Intron|TINF2_ENST00000267415.7_Intron|TINF2_ENST00000558566.1_Intron|TINF2_ENST00000538777.1_Intron Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 NA NA negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833) chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370) telomeric DNA binding (GO:0042162) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) caggagaatcgcttgaacccg 0.507 NA Congenital Dyskeratosis;Ataxia Pancytopenia syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder AF195512 CCDS41936.1, CCDS41937.1 14q12 2008-07-29 ENSG00000092330 26277 11824 protein-coding gene gene with protein product 604319 NA 10581025, 18252230 Standard NM_012461 NA Approved TIN2 uc001woa.4 Q9BSI4 ENST00000559019.1:c.192+608C>T chr14.hg19:g.24710738G>A NA B3W5Q7|Q9H904|Q9UHC2 hg19 0.02 1.171621 ATCxCTT COVERED NOVEL TINF2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000415428.1 6 13.238893 KEEP 2 0 0 44 1398 GG 1 0.997163 0 - 5 60 129 0 0 7.523798 64 60 1875 125 ENST00000559019.1 0.072464 0.997163 RP11-314P15.2 0 __UNKNOWN__ __UNKNOWN__ 14 26569330 26569330 __UNKNOWN__ lincRNA SNP T T C rs1986048 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:26569330T>C ENST00000546412.1 - 0 258 NA NA NA gctgggattataggcgtgagc 0.458 NA C||| 1082 0.216054 0.3419 0.2075 5008 , , NA 15301 0.006 NA 0.3489 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000546412.1: chr14.hg19:g.26569330T>C NA hg19 0.02 -0.228002 TTAxAGG COVERED NOVEL RP11-314P15.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000408476.1 5 2.406908 KEEP 1 0 0 8 241 TT 0.99257 0.578599 0 - 3 60 94 0 0 6.849957 22 60 616 52 ENST00000546412.1 0.12 0.58293 C14orf23 387978 __UNKNOWN__ __UNKNOWN__ 14 29261553 29261553 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:29261553T>C ENST00000399387.4 + 0 694 C14orf23_ENST00000548213.1_Intron|C14orf23_ENST00000550266.1_Intron chromosome 14 open reading frame 23 NA NA central_nervous_system(1) 1 ccgaggcgggtggatcatgag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 14q11.2 2013-01-15 ENSG00000186960 ENSG00000186960 387978 19828 other unknown NA Standard NR_026731 NR_026731 NA Approved uc001wqf.3 Q86U37 OTTHUMG00000029410 ENST00000399387.4:c.*86T>C chr14.hg19:g.29261553T>C NA hg19 0.02 -0.263112 GGGxGGA COVERED NOVEL C14orf23-003 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000134019.2 3 3.845411 KEEP 8 1 26 22 717 TT 0.999879 0.693584 0 + 4 60 114 0 0 8.324821 24 60 717 81 ENST00000399387.4 0.142857 0.693668 AP4S1 11154 __UNKNOWN__ __UNKNOWN__ 14 31554721 31554721 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:31554721A>T ENST00000542754.2 + 5 699 AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000554345.1_3'UTR|AP4S1_ENST00000216366.4_3'UTR|AP4S1_ENST00000313566.6_Intron NM_001128126.2|NM_001254728.1 NP_001121598.1|NP_001241657.1 Q9Y587 AP4S1_HUMAN adaptor-related protein complex 4, sigma 1 subunit NA NA coated pit (GO:0005905)|Golgi apparatus (GO:0005794) protein transporter activity (GO:0008565)|transporter activity (GO:0005215) lung(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221) GBM - Glioblastoma multiforme(265;0.00553) ggctcacgccagtaatcccag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(128;620 2365 4508 44145) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB030654 CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1 14q12 2012-06-29 ENSG00000100478 ENSG00000100478 11154 575 protein-coding gene gene with protein product 607243 NA 10436028, 21620353 Standard NM_007077 NA Approved CLA20, AP47B, SPG52 uc001wqw.4 Q9Y587 OTTHUMG00000140202 ENST00000542754.2:c.306+4931A>T chr14.hg19:g.31554721A>T NA G3V2N8|Q6IAQ4|Q86U36|Q9BVE7 hg19 CCDS45093.1 0.02 -0.333268 GCCxGTA COVERED NOVEL AP4S1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000409723.1 3 5.717447 KEEP 0 0 0 19 599 AA 0.99986 0.851864 0 + 4 60 119 0 0 8.410324 31 60 915 75 ENST00000542754.2 0.114286 0.851984 HECTD1 25831 __UNKNOWN__ __UNKNOWN__ 14 31653564 31653564 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:31653564C>G ENST00000399332.1 - 3 629 HECTD1_ENST00000553700.1_Intron NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 NA NA neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ggaggccgagccaggtggatc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032957 CCDS41939.1 14q12 2013-01-10 2012-02-23 ENSG00000092148 ENSG00000092148 25831 Ankyrin repeat domain containing 20157 protein-coding gene gene with protein product HECT domain containing 1 NA 10574461 Standard XM_005267502 NA Approved KIAA1131 uc001wrc.1 Q9ULT8 OTTHUMG00000170670 ENST00000399332.1:c.141-6104G>C chr14.hg19:g.31653564C>G NA D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7 hg19 CCDS41939.1 0.02 -0.254407 GAGxCAG COVERED NOVEL HECTD1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409942.1 6 2.708953 KEEP 0 0 0 9 329 CC 0.99254 0.663536 0 - 3 60 105 0 0 7.791741 25 60 855 55 ENST00000399332.1 0.107143 0.668523 HEATR5A 25938 __UNKNOWN__ __UNKNOWN__ 14 31812555 31812555 __UNKNOWN__ Intron SNP A A G rs571544714 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:31812555A>G ENST00000543095.2 - 21 3413 HEATR5A_ENST00000389961.3_Intron|HEATR5A_ENST00000439727.1_Intron|HEATR5A_ENST00000439348.1_Intron|HEATR5A_ENST00000404677.3_Intron NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A NA NA breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) gattacaggcatgagccactg 0.483 NA A||| 3 0.000599042 0.0023 0 5008 , , NA 18065 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037737 14q12 2012-04-19 2007-01-02 2007-01-02 ENSG00000129493 ENSG00000129493 25938 20276 protein-coding gene gene with protein product chromosome 14 open reading frame 125 C14orf125 NA Standard NM_015473 NM_015473 NA Approved DKFZP434I1735 uc001wrf.4 Q86XA9 OTTHUMG00000169043 ENST00000543095.2:c.3228+546T>C chr14.hg19:g.31812555A>G NA Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3 hg19 0.02 -0.254327 GGCxTGA COVERED NOVEL HEATR5A-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000402061.3 5 2.407316 KEEP 0 0 0 8 252 AA 0.99257 0.663556 0 - 3 60 100 0 0 7.394789 23 60 669 52 ENST00000543095.2 0.115385 0.668523 ARHGAP5 394 __UNKNOWN__ __UNKNOWN__ 14 32561340 32561340 __UNKNOWN__ Missense_Mutation SNP G G A rs78337553 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:32561340G>A ENST00000345122.3 + 2 1780 c.1465G>A c.(1465-1467)Gag>Aag p.E489K ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E489K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E489K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E489K NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 489 FF 4. NA cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169) p.E489K(1) NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AGCCAAAGAAGAGTTTCAAGA 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(9;77 350 3443 29227 41353) NA 1 Substitution - Missense(1) stomach(1) 60 61 61 NA NA NA 14 NA NA 32561340 2203 4298 6501 SO:0001583 missense U17032 CCDS32062.1, CCDS45095.1 14q12 2010-02-05 394 Rho GTPase activating proteins 675 protein-coding gene gene with protein product 602680 growth factor independent 2 GFI2 NA 8537347 Standard NM_001030055 XM_005267635 NA Approved RhoGAP5, p190-B, p190BRhoGAP uc001wrn.3 Q13017 ENST00000345122.3:c.1465G>A chr14.hg19:g.32561340G>A ENSP00000371897:p.Glu489Lys NA A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3 hg19 CCDS32062.1 0.02 1.313223 GAAxAGT COVERED . . . . . . . . . . G 19.00 3.741262 0.69304 . . ENSG00000100852 ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921 T;T;T;T 0.32023 1.47;1.47;1.47;1.47 6.02 6.02 0.97574 FF domain (2); 0.044905 0.85682 D 0.000000 T 0.39009 0.1062 N 0.22421 0.69 0.80722 D 1 P;P 0.42296 0.734;0.775 P;P 0.52066 0.562;0.689 T 0.11060 -1.0603 10 0.62326 D 0.03 . 20.547 0.99278 0.0:0.0:1.0:0.0 . 489;489 Q13017-2;Q13017 .;RHG05_HUMAN K 489 ENSP00000452222:E489K;ENSP00000441692:E489K;ENSP00000371897:E489K;ENSP00000393307:E489K ENSP00000371897:E489K E + 1 0 ARHGAP5 31631091 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.869000 0.99810 2.850000 0.98022 0.650000 0.86243 GAG NOVEL ARHGAP5-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000409735.1 4 3.581595 KEEP 0 2 63 34 1218 GG 0.999999 0.994421 0 + 5 54 146 0 0 9.30488 61 60 2054 144 ENST00000345122.3 0.075758 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 32737014 32737014 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:32737014C>T NA NA RNU6-8 (64539 upstream) : AKAP6 (61464 downstream) NA NA NA ctcgggaggccgaggcaggag 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.32737014C>T NA hg19 0.02 -0.403465 GGCxGAG COVERED NOVEL 0 2 7.523578 KEEP 0 0 0 25 837 CC 0.999931 0.934428 0 4 40 107 0 0 6.838681 39 60 1227 77 0.093023 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 32737039 32737039 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:32737039A>G NA NA RNU6-8 (64564 upstream) : AKAP6 (61439 downstream) NA NA NA gtgtgaacccaggaggcggag 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.32737039A>G NA hg19 0.02 1.237027 CCCxGGA COVERED NOVEL 0 1 12.927427 KEEP 1 0 0 43 1285 AA 1 0.999678 0 7 60 197 1 0 12.706901 74 60 2117 140 0.08642 0.999678 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 32785689 32785689 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:32785689C>T NA NA RNU6-8 (113214 upstream) : AKAP6 (12789 downstream) NA NA NA acctgtaatcccagcactttg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.32785689C>T NA hg19 0.02 -0.140313 ATCxCAG COVERED NOVEL 0 5 3.009843 KEEP 0 0 0 10 355 CC 0.992708 0.259062 0 3 60 90 0 0 7.501671 9 60 290 37 0.25 0.260965 SPTSSA 171546 __UNKNOWN__ __UNKNOWN__ 14 34917198 34917198 __UNKNOWN__ Intron SNP C C T rs79976877 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:34917198C>T ENST00000298130.4 - 2 261 NM_138288.3 NP_612145.2 Q969W0 SPTSA_HUMAN serine palmitoyltransferase, small subunit A NA NA sphingolipid biosynthetic process (GO:0030148) integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059) NA tggtggttcacgcatgtaatc 0.532 NA C||| 710 0.141773 0.1551 0.1326 5008 , , NA 19038 0.254 NA 0.0825 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001993 CCDS9647.2 14q13.1 2011-07-26 2011-07-26 2011-07-26 ENSG00000165389 ENSG00000165389 171546 20361 protein-coding gene gene with protein product small subunit of serine palmitoyltransferase A 613540 chromosome 14 open reading frame 147 C14orf147 NA 19416851 Standard NM_138288 NM_138288 NA Approved ssSPTa uc001wsc.3 Q969W0 OTTHUMG00000140212 ENST00000298130.4:c.113-12688G>A chr14.hg19:g.34917198C>T NA B2RD54|D3DS93|Q8WTZ7 hg19 CCDS9647.2 0.02 -0.324402 TCAxGCA COVERED NOVEL SPTSSA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276640.2 2 3.912264 KEEP 0 0 0 13 432 CC 0.994391 0.831028 0 - 16 60 469 0 0 45.864388 13 60 420 75 ENST00000298130.4 0.551724 0.835716 SRP54 6729 __UNKNOWN__ __UNKNOWN__ 14 35476388 35476388 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:35476388T>A ENST00000556994.1 + 6 652 SRP54_ENST00000546080.1_Intron|SRP54_ENST00000555557.1_Intron|SRP54_ENST00000216774.6_Intron P61011 SRP54_HUMAN signal recognition particle 54kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) gacaagagtgtgaccctgtct 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X86373 CCDS9652.1, CCDS53893.1 14q13.2 2014-06-02 2002-08-29 ENSG00000100883 ENSG00000100883 6729 11301 protein-coding gene gene with protein product 604857 signal recognition particle 54kD NA 8722571 Standard NM_003136 NM_003136 NA Approved uc001wso.3 P61011 OTTHUMG00000140214 ENST00000556994.1:c.256-101T>A chr14.hg19:g.35476388T>A NA B2R759|B4DUW6|P13624 hg19 CCDS9652.1 0.02 -0.210257 GTGxGAC COVERED NOVEL SRP54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276643.2 4 2.704188 KEEP 0 0 0 9 255 TT 0.99254 0.518266 0 + 3 60 96 0 0 7.229022 19 60 517 37 ENST00000556994.1 0.136364 0.522161 KIAA0391 9692 __UNKNOWN__ __UNKNOWN__ 14 35779473 35779473 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:35779473G>C ENST00000557565.1 + 12 3201 PSMA6_ENST00000261479.4_Intron|PSMA6_ENST00000555764.1_Intron|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000553809.1_Intron|PSMA6_ENST00000540871.1_Intron NM_001282234.1 NP_001269163.1 O15091 MRRP3_HUMAN KIAA0391 NA NA tRNA processing (GO:0008033) mitochondrion (GO:0005739) central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) agcaattctcgtgcctcaacc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002389 CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1 14q13.2 2013-06-18 ENSG00000100890 ENSG00000100890 9692 19958 protein-coding gene gene with protein product mitochondrial RNase P subunit 3, proteinaceous RNase P 609947 NA 9205841, 18984158 Standard NM_014672 NM_001256678 NA Approved MRPP3, PRORP uc001wsy.2 O15091 ENST00000557565.1:c.1750-473G>C chr14.hg19:g.35779473G>C NA B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5 hg19 CCDS32063.1 0.02 1.921303 CTCxTGC COVERED NOVEL KIAA0391-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000411280.1 5 8.427131 KEEP 0 0 0 28 984 GG 0.999997 0.99899 0 + 6 70 192 0 1 13.098895 66 60 2157 129 ENST00000557565.1 0.083333 0.998993 KIAA0391 9692 __UNKNOWN__ __UNKNOWN__ 14 35779481 35779481 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:35779481A>G ENST00000557565.1 + 12 3201 PSMA6_ENST00000261479.4_Intron|PSMA6_ENST00000555764.1_Intron|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000553809.1_Intron|PSMA6_ENST00000540871.1_Intron NM_001282234.1 NP_001269163.1 O15091 MRRP3_HUMAN KIAA0391 NA NA tRNA processing (GO:0008033) mitochondrion (GO:0005739) central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) tcgtgcctcaacctcccaggt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002389 CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1 14q13.2 2013-06-18 ENSG00000100890 ENSG00000100890 9692 19958 protein-coding gene gene with protein product mitochondrial RNase P subunit 3, proteinaceous RNase P 609947 NA 9205841, 18984158 Standard NM_014672 NM_001256678 NA Approved MRPP3, PRORP uc001wsy.2 O15091 ENST00000557565.1:c.1750-465A>G chr14.hg19:g.35779481A>G NA B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5 hg19 CCDS32063.1 0.02 1.874541 TCAxCCT COVERED NOVEL KIAA0391-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000411280.1 5 4.848355 KEEP 0 1 37 29 854 AA 0.999997 0.996721 0 + 6 70 175 1 0 11.689623 59 60 1589 113 ENST00000557565.1 0.092308 0.996724 SEC23A 10484 __UNKNOWN__ __UNKNOWN__ 14 39534039 39534039 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:39534039T>C ENST00000307712.6 - 11 1826 SEC23A_ENST00000545328.2_Intron|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000553925.1_5'UTR|SEC23A_ENST00000537403.1_Intron NM_006364.2 NP_006355.2 Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192) COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471) zinc ion binding (GO:0008270) kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) ctgcctcagcttcccaagtac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X97064 CCDS9668.1 14q21.1 2008-05-14 2001-11-28 ENSG00000100934 ENSG00000100934 10484 10701 protein-coding gene gene with protein product 610511 Sec23 (S. cerevisiae) homolog A NA 8898360, 10329445 Standard NM_006364 NA Approved uc001wup.1 Q15436 OTTHUMG00000028812 ENST00000307712.6:c.1308+77A>G chr14.hg19:g.39534039T>C NA B2R5P4|B3KXI2|Q8NE16 hg19 CCDS9668.1 0.02 1.765931 AGCxTCC COVERED NOVEL SEC23A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276728.2 7 6.623163 KEEP 2 3 106 59 1820 TT 1 0.997163 0 - 4 60 136 0 0 8.879495 65 60 1907 171 ENST00000307712.6 0.057971 0.997163 SEC23A 10484 __UNKNOWN__ __UNKNOWN__ 14 39562106 39562106 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:39562106T>C ENST00000307712.6 - 4 797 SEC23A_ENST00000548032.2_3'UTR|SEC23A_ENST00000545328.2_Intron|SEC23A_ENST00000536508.1_Intron NM_006364.2 NP_006355.2 Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192) COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471) zinc ion binding (GO:0008270) kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) cttgctctgttgcccaggctg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X97064 CCDS9668.1 14q21.1 2008-05-14 2001-11-28 ENSG00000100934 ENSG00000100934 10484 10701 protein-coding gene gene with protein product 610511 Sec23 (S. cerevisiae) homolog A NA 8898360, 10329445 Standard NM_006364 NA Approved uc001wup.1 Q15436 OTTHUMG00000028812 ENST00000307712.6:c.280-275A>G chr14.hg19:g.39562106T>C NA B2R5P4|B3KXI2|Q8NE16 hg19 CCDS9668.1 0.02 1.906507 TGTxGCC COVERED NOVEL SEC23A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276728.2 3 5.115625 KEEP 0 0 0 17 538 TT 0.999366 0.978906 0 - 4 60 131 1 0 9.320338 37 60 1046 81 ENST00000307712.6 0.097561 0.979526 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 39606258 39606258 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:39606258G>T NA NA GEMIN2 (81 upstream) : TRAPPC6B (10757 downstream) NA NA NA tgcagtggcaggatctcagct 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.39606258G>T NA hg19 0.02 -0.254392 GCAxGAT COVERED NOVEL 0 2 3.009729 KEEP 1 0 0 10 345 GG 0.992708 0.68861 0 3 60 91 0 0 6.606265 21 70 687 46 0.125 0.693668 RP11-407N17.3 0 __UNKNOWN__ __UNKNOWN__ 14 39816179 39816179 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:39816179A>G ENST00000553728.1 + 26 3772 CTAGE5_ENST00000396165.4_Intron|CTAGE5_ENST00000341502.5_Intron|CTAGE5_ENST00000396158.2_Intron|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000348007.3_Intron|RP11-407N17.3_ENST00000603904.1_Intron|CTAGE5_ENST00000557038.1_Intron|CTAGE5_ENST00000341749.3_Intron|CTAGE5_ENST00000280083.3_Intron|CTAGE5_ENST00000553352.1_Intron NA NA NA tgttgcccagactggagtgca 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000553728.1:c.3560-738A>G chr14.hg19:g.39816179A>G NA hg19 0.02 -0.201616 CAGxCTG COVERED NOVEL RP11-407N17.3-001 NOVEL not_organism_supported|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000410208.1 2 2.708077 KEEP 0 0 0 9 277 AA 0.99254 0.518266 0 + 3 60 98 0 0 7.792061 14 60 394 43 ENST00000553728.1 0.176471 0.522161 PRPF39 55015 __UNKNOWN__ __UNKNOWN__ 14 45571039 45571039 __UNKNOWN__ Intron SNP G G T rs1864607 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:45571039G>T ENST00000355765.6 + 5 739 NM_017922.3 NP_060392.3 Q86UA1 PRP39_HUMAN pre-mRNA processing factor 39 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634) breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1) 12 agacagagtcgcgctctgtcg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000673 CCDS9682.2 14q21.1 2013-10-03 2013-10-03 ENSG00000185246 ENSG00000185246 55015 20314 protein-coding gene gene with protein product 614907 PRP39 pre-mRNA processing factor 39 homolog (yeast), PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) NA Standard NM_017922 NA Approved FLJ20666, FLJ11128 uc001wvz.4 Q86UA1 OTTHUMG00000140265 ENST00000355765.6:c.570-693G>T chr14.hg19:g.45571039G>T NA Q08AL1|Q08AL2|Q9NUU5 hg19 CCDS9682.2 0.02 1.56442 GTCxCGC COVERED NOVEL PRPF39-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319683.2 6 3.245337 KEEP 1 1 32 22 779 GG 0.999879 0.990844 0 + 4 60 122 0 0 8.251072 41 60 1343 125 ENST00000355765.6 0.088889 0.990964 FKBP3 2287 __UNKNOWN__ __UNKNOWN__ 14 45595657 45595657 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:45595657T>C ENST00000216330.3 - 4 729 FKBP3_ENST00000396062.3_Intron Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa NA NA chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634) FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872) NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 12 caccactgcattccagcctag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M96256 CCDS9683.1 14q21.2 2008-08-11 2002-08-29 ENSG00000100442 ENSG00000100442 2287 3719 protein-coding gene gene with protein product 186947 FK506-binding protein 3 (25kD) NA 1374240, 1532945 Standard NM_002013 NM_002013 NA Approved FKBP-25, PPIase uc010tqf.2 Q00688 OTTHUMG00000140267 ENST00000216330.3:c.318+3339A>G chr14.hg19:g.45595657T>C NA B2R4Q9|Q14317 hg19 CCDS9683.1 0.02 5.968309 GCAxTCC COVERED NOVEL FKBP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276796.1 24 5.722749 KEEP 0 3 109 57 1815 TT 1 1 0 - 7 60 229 0 0 13.642139 160 60 4682 361 ENST00000216330.3 0.041916 1 FKBP3 2287 __UNKNOWN__ __UNKNOWN__ 14 45602586 45602586 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:45602586T>C ENST00000216330.3 - 2 519 FKBP3_ENST00000396062.3_Intron Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa NA NA chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634) FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872) NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 12 aggagaatcgtttgaacccgg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M96256 CCDS9683.1 14q21.2 2008-08-11 2002-08-29 ENSG00000100442 ENSG00000100442 2287 3719 protein-coding gene gene with protein product 186947 FK506-binding protein 3 (25kD) NA 1374240, 1532945 Standard NM_002013 NM_002013 NA Approved FKBP-25, PPIase uc010tqf.2 Q00688 OTTHUMG00000140267 ENST00000216330.3:c.108+965A>G chr14.hg19:g.45602586T>C NA B2R4Q9|Q14317 hg19 CCDS9683.1 0.02 1.552614 TCGxTTG COVERED NOVEL FKBP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276796.1 0 6.385169 KEEP 0 2 65 44 1293 TT 1 0.999559 0 - 8 60 237 0 0 16.32786 70 60 1898 136 ENST00000216330.3 0.102564 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 48532677 48532677 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:48532677T>C NA NA LINC00648 (268460 upstream) : RNU6-297P (277751 downstream) NA NA NA cacatgttcttacttgtaagt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.48532677T>C NA hg19 0.02 -0.289378 TCTxACT COVERED NOVEL 0 2 3.009103 KEEP 0 0 0 10 310 TT 0.992708 0.755338 0 3 60 94 1 0 6.554202 28 60 777 64 0.096774 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 49784183 49784183 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:49784183A>G NA NA RP11-816J8.1 (239960 upstream) : RNA5SP384 (235167 downstream) NA NA NA aggagttcaaagccagcctga 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.49784183A>G NA hg19 0.02 1.797817 CAAxGCC COVERED NOVEL 0 12 2.708215 KEEP 1 0 0 9 283 AA 0.99254 0.972219 0 4 60 136 0 0 9.494087 45 60 1398 103 0.081633 0.979526 LRR1 122769 __UNKNOWN__ __UNKNOWN__ 14 50068346 50068346 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:50068346C>T ENST00000557531.1 + 1 286 LRR1_ENST00000318317.4_Intron|LRR1_ENST00000298288.6_Intron Q96L50 LLR1_HUMAN leucine rich repeat protein 1 NA NA protein ubiquitination (GO:0016567) kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCACCCCAGGCTAATGGACTG 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC030142 CCDS9686.1, CCDS9687.1 14q21.3 2011-02-02 2011-02-02 2011-02-02 ENSG00000165501 ENSG00000165501 122769 19742 protein-coding gene gene with protein product LRR-repeat protein 1 609193 peptidylprolyl isomerase (cyclophilin)-like 5 PPIL5 NA 11804328, 21074724 Standard NM_203467 NR_037792 NA Approved MGC20689, LRR-1 uc001wwn.3 Q96L50 OTTHUMG00000140273 ENST00000557531.1:c.286+931C>T chr14.hg19:g.50068346C>T NA A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9 hg19 0.02 3.350114 AGGxTAA COVERED NOVEL LRR1-005 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000410794.1 1 17.156343 KEEP 0 0 0 57 2092 CC 1 0.999987 0 + 35 60 1028 0 0 90.469216 70 60 2378 243 ENST00000557531.1 0.333333 0.999987 DNAAF2 55172 __UNKNOWN__ __UNKNOWN__ 14 50099901 50099901 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:50099901A>G ENST00000298292.8 - 1 1944 DNAAF2_ENST00000406043.3_Intron NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 NA NA axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526) cytoplasm (GO:0005737) kidney(1)|lung(4) 5 gcctcccaaaatgctgggatt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001425 CCDS9691.2, CCDS45100.1 14q21.3 2012-05-03 2011-06-09 2011-06-09 ENSG00000165506 ENSG00000165506 55172 20188 protein-coding gene gene with protein product kintoun 612517 chromosome 14 open reading frame 104 C14orf104 NA Standard NM_001083908 NA Approved FLJ10563, KTU, PF13, CILD10 uc001wws.4 Q9NVR5 OTTHUMG00000152331 ENST00000298292.8:c.1863+103T>C chr14.hg19:g.50099901A>G NA B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5 hg19 CCDS9691.2 0.02 1.816187 AAAxTGC COVERED NOVEL DNAAF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276813.1 7 4.083453 KEEP 4 2 70 38 1229 AA 1 0.999768 0 - 6 60 203 0 0 13.717443 80 60 2376 165 ENST00000298292.8 0.069767 0.999768 POLE2 5427 __UNKNOWN__ __UNKNOWN__ 14 50149869 50149869 __UNKNOWN__ Intron SNP T T C rs540911213 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:50149869T>C ENST00000216367.5 - 2 269 POLE2_ENST00000556584.1_Intron|POLE2_ENST00000539565.2_Intron|POLE2_ENST00000554396.1_Intron|POLE2_ENST00000553805.2_Intron NM_002692.3 NP_002683.2 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit NA NA DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) Cladribine(DB00242) cctgtaatcctagcactttgg 0.498 NA T||| 1 0.000199681 0 0 5008 , , NA 16009 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF025840 CCDS32073.1, CCDS55914.1, CCDS55915.1 14q21-q22 2012-05-18 2012-05-18 ENSG00000100479 ENSG00000100479 5427 DNA polymerases 9178 protein-coding gene gene with protein product DNA polymerase epsilon subunit B 602670 polymerase (DNA directed), epsilon 2 (p59 subunit) NA 9405441, 9443964 Standard NM_002692 NM_002692 NA Approved DPE2 uc001wwu.3 P56282 OTTHUMG00000170813 ENST00000216367.5:c.169+441A>G chr14.hg19:g.50149869T>C NA A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560 hg19 CCDS32073.1 0.02 -0.324488 TCCxAGC COVERED NOVEL POLE2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410512.1 10 2.708505 KEEP 0 0 0 9 292 TT 0.99254 0.829482 0 - 4 60 137 0 0 10.433073 27 60 773 70 ENST00000216367.5 0.129032 0.835716 POLE2 5427 __UNKNOWN__ __UNKNOWN__ 14 50149891 50149891 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:50149891A>G ENST00000216367.5 - 2 269 POLE2_ENST00000556584.1_Intron|POLE2_ENST00000539565.2_Intron|POLE2_ENST00000554396.1_Intron|POLE2_ENST00000553805.2_Intron NM_002692.3 NP_002683.2 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit NA NA DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) Cladribine(DB00242) aggccgaggcaggtggactgc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF025840 CCDS32073.1, CCDS55914.1, CCDS55915.1 14q21-q22 2012-05-18 2012-05-18 ENSG00000100479 ENSG00000100479 5427 DNA polymerases 9178 protein-coding gene gene with protein product DNA polymerase epsilon subunit B 602670 polymerase (DNA directed), epsilon 2 (p59 subunit) NA 9405441, 9443964 Standard NM_002692 NM_002692 NA Approved DPE2 uc001wwu.3 P56282 OTTHUMG00000170813 ENST00000216367.5:c.169+419T>C chr14.hg19:g.50149891A>G NA A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560 hg19 CCDS32073.1 0.02 -0.25436 GGCxGGT COVERED NOVEL POLE2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410512.1 9 2.708479 KEEP 0 0 0 9 291 AA 0.99254 0.663536 0 - 3 60 95 0 0 6.895746 23 60 702 62 ENST00000216367.5 0.115385 0.668523 KLHDC2 23588 __UNKNOWN__ __UNKNOWN__ 14 50238489 50238489 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:50238489C>G ENST00000557247.1 + 2 534 KLHDC2_ENST00000298307.5_Intron|KLHDC2_ENST00000553538.1_Intron|KLHDC2_ENST00000554589.1_Intron Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 NA NA nucleus (GO:0005634) endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) gggaggccaacgcgggcggat 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001771 CCDS9693.1 14q21.3 2003-01-15 ENSG00000165516 ENSG00000165516 23588 20231 protein-coding gene gene with protein product 611280 NA 11384994 Standard NM_014315 NA Approved HCLP-1, LCP uc001wwx.3 Q9Y2U9 OTTHUMG00000140288 ENST00000557247.1:c.233+98C>G chr14.hg19:g.50238489C>G NA B3KPF9|Q6IAF0|Q86TY9 hg19 0.02 -0.228041 CAAxGCG COVERED NOVEL KLHDC2-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000410650.1 2 5.416377 KEEP 1 0 0 18 565 CC 0.999859 0.582848 0 + 3 60 103 0 0 7.805487 21 60 638 49 ENST00000557247.1 0.125 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 50333020 50333020 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:50333020C>T NA NA RN7SL2 (3453 upstream) : ARF6 (26789 downstream) NA NA NA aggctggtctcgaactcctga 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.50333020C>T NA hg19 0.02 -0.175435 TCTxGAA COVERED NOVEL 0 6 2.708787 KEEP 1 0 0 9 312 CC 0.99254 0.384517 0 3 60 83 0 0 6.47253 12 60 392 38 0.2 0.387407 L2HGDH 79944 __UNKNOWN__ __UNKNOWN__ 14 50712810 50712810 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:50712810A>C ENST00000261699.4 - 10 1214 L2HGDH_ENST00000267436.4_3'UTR|L2HGDH_ENST00000421284.3_3'UTR Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase NA NA 2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) 2-hydroxyglutarate dehydrogenase activity (GO:0047545) kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) cattgcactcaagcctgggca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9698.1 14q22.1 2006-04-28 2005-05-25 2005-05-25 ENSG00000087299 ENSG00000087299 79944 1.1.99.2 20499 protein-coding gene gene with protein product 2-hydroxyglutarate dehydrogenase 609584 chromosome 14 open reading frame 160 C14orf160 NA 16005139 Standard NM_024884 NM_024884 NA Approved FLJ12618 uc001wxu.3 Q9H9P8 OTTHUMG00000140289 ENST00000261699.4:c.1197-8367T>G chr14.hg19:g.50712810A>C NA Q9BRR1 hg19 0.02 3.756724 CTCxAGC COVERED NOVEL L2HGDH-002 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000276871.1 13 8.259638 KEEP 0 1 33 39 1226 AA 1 0.999991 0 - 5 60 167 1 0 10.967982 75 60 2198 197 ENST00000261699.4 0.0625 0.999991 ATP5S 27109 __UNKNOWN__ __UNKNOWN__ 14 50781138 50781138 __UNKNOWN__ Intron SNP G G A rs191563524 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:50781138G>A ENST00000311459.7 + 1 420 ATP5S_ENST00000426751.2_Intron|ATP5S_ENST00000245448.6_Intron|ATP5S_ENST00000554438.1_Intron NM_001003803.2 NP_001003803.1 Q99766 ATP5S_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) NA NA ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992) mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263) hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872) breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 12 all_epithelial(31;0.000636)|Breast(41;0.0102) OV - Ovarian serous cystadenocarcinoma(311;0.0685) ttttcttctcggtctcgggta 0.423 NA G||| 4 0.000798722 8e-04 0 5008 , , NA 22716 0 NA 0.003 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U79253 CCDS32075.1, CCDS32076.1, CCDS45102.1 14q21.3 2011-04-13 2010-06-11 ENSG00000125375 27109 18799 protein-coding gene gene with protein product ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B) NA 11744738, 8619474 Standard NM_015684 NM_015684 NA Approved HSU79253, ATPW uc001wxw.2 Q99766 ENST00000311459.7:c.40+1360G>A chr14.hg19:g.50781138G>A NA A8K1U3|D9N156|Q8WWX3|Q96F77 hg19 CCDS32075.1 0.02 -0.280656 CTCxGTC COVERED NOVEL ATP5S-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410761.1 3 2.405196 KEEP 0 0 0 8 227 GG 0.99257 0.734176 0 + 4 60 108 0 0 7.598916 26 60 814 49 ENST00000311459.7 0.133333 0.739671 ATL1 51062 __UNKNOWN__ __UNKNOWN__ 14 51062266 51062266 __UNKNOWN__ Intron SNP A A G rs4993307 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:51062266A>G ENST00000441560.2 + 7 1054 ATL1_ENST00000354525.4_Intron|ATL1_ENST00000358385.6_Intron|ATL1_ENST00000357032.3_Intron NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 NA NA axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802) central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 ctctctGTGTATGTGTGTGTG 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 68 68 NA NA NA 14 NA NA 51062266 2203 4300 6503 SO:0001627 intron_variant AF131801 CCDS9700.1, CCDS32077.1 14q21.3 2014-09-17 2008-09-17 2008-09-17 ENSG00000198513 ENSG00000198513 51062 11231 protein-coding gene gene with protein product atlastin 606439 spastic paraplegia 3A (autosomal dominant) SPG3, SPG3A NA 8252041, 7825576 Standard NM_015915 NA Approved FSP1, AD-FSP uc001wyd.4 Q8WXF7 OTTHUMG00000140297 ENST00000441560.2:c.574-28A>G chr14.hg19:g.51062266A>G NA A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0 hg19 CCDS32077.1 0.02 1.662718 TGTxTGT COVERED NOVEL ATL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410925.1 6 2.746467 KEEP 2 4 107 47 1344 AA 1 0.999487 0 + 4 60 131 0 1 8.122494 76 70 2047 176 ENST00000441560.2 0.05 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 51142605 51142605 __UNKNOWN__ IGR SNP G G A rs7147956 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:51142605G>A NA NA SAV1 (7556 upstream) : NIN (43875 downstream) NA NA NA gaggtcctttgttttgggtta 0.478 NA G||| 2666 0.532348 0.2844 0.6095 5008 , , NA 20386 0.7103 NA 0.497 False NA ,,, NA NA NA 2504 0.6656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.51142605G>A NA hg19 0.02 -0.2193 TTTxTTT COVERED NOVEL 0 0 2.708875 KEEP 1 0 0 9 331 GG 0.99254 0.548763 0 5 60 145 0 0 11.552843 19 60 644 56 0.208333 0.552887 NIN 51199 __UNKNOWN__ __UNKNOWN__ 14 51270890 51270890 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:51270890G>C ENST00000530997.2 - 2 265 NIN_ENST00000382041.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Intron|NIN_ENST00000245441.5_Intron Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) NA NA centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454) centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922) calcium ion binding (GO:0005509)|GTP binding (GO:0005525) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) gctgggattagaggcatgagc 0.542 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 14 14q24 51199 ninein (GSK3B interacting protein) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF212162 CCDS32078.1, CCDS32079.1, CCDS32078.2 14q21-q22 2013-01-10 ENSG00000100503 ENSG00000100503 51199 EF-hand domain containing 14906 protein-coding gene gene with protein product 608684 NA 11004522, 11162463 Standard NM_182946 NM_020921 NA Approved uc001wyi.3 Q8N4C6 OTTHUMG00000029569 ENST00000530997.2:c.265+2564C>G chr14.hg19:g.51270890G>C NA A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61 hg19 0.02 -0.271952 TTAxAGG COVERED NOVEL NIN-017 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000395210.2 4 2.406023 KEEP 0 0 0 8 264 GG 0.99257 0.734176 0 - 3 60 103 0 0 7.591845 25 60 853 55 ENST00000530997.2 0.107143 0.739671 ABHD12B 145447 __UNKNOWN__ __UNKNOWN__ 14 51355628 51355628 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:51355628C>T ENST00000337334.2 + 9 795 ABHD12B_ENST00000395752.1_Intron|ABHD12B_ENST00000353130.1_Intron|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_Intron NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B NA NA hydrolase activity (GO:0016787) breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) AAAGGTGAGACTCTGATTCAT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 120 102 108 NA NA NA 14 NA NA 51355628 2203 4300 6503 SO:0001627 intron_variant BG698443 CCDS9702.1, CCDS55916.1 14q21.3 2009-10-09 2007-04-03 2007-04-03 ENSG00000131969 ENSG00000131969 145447 Abhydrolase domain containing 19837 protein-coding gene gene with protein product chromosome 14 open reading frame 29 C14orf29 NA Standard NM_181814 NA Approved BEM46L3 uc001wys.3 Q7Z5M8 OTTHUMG00000140286 ENST00000337334.2:c.780+7C>T chr14.hg19:g.51355628C>T NA Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2 hg19 CCDS55916.1 0.02 -0.280676 AGAxTCT COVERED NOVEL ABHD12B-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000411030.1 0 6.614508 KEEP 0 0 0 22 799 CC 0.999879 0.739582 0 + 16 60 476 0 0 45.594975 16 60 555 80 ENST00000337334.2 0.5 0.739671 ABHD12B 145447 __UNKNOWN__ __UNKNOWN__ 14 51360133 51360133 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:51360133A>G ENST00000337334.2 + 9 795 ABHD12B_ENST00000395752.1_Intron|ABHD12B_ENST00000353130.1_Intron|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B NA NA hydrolase activity (GO:0016787) breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) tgtgacccccacccctgccca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BG698443 CCDS9702.1, CCDS55916.1 14q21.3 2009-10-09 2007-04-03 2007-04-03 ENSG00000131969 ENSG00000131969 145447 Abhydrolase domain containing 19837 protein-coding gene gene with protein product chromosome 14 open reading frame 29 C14orf29 NA Standard NM_181814 NA Approved BEM46L3 uc001wys.3 Q7Z5M8 OTTHUMG00000140286 ENST00000337334.2:c.780+4512A>G chr14.hg19:g.51360133A>G NA Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2 hg19 CCDS55916.1 0.02 -0.263059 CCCxCCC COVERED NOVEL ABHD12B-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000411030.1 7 2.406789 KEEP 0 0 0 8 238 AA 0.99257 0.734176 0 + 7 60 240 0 0 20.631742 20 60 551 58 ENST00000337334.2 0.259259 0.739671 ERO1L 30001 __UNKNOWN__ __UNKNOWN__ 14 53108315 53108315 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:53108315C>G ENST00000395686.3 - 0 3603 NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) NA NA 4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035) ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) ctgggcgacacagcaagactc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF081886 CCDS9709.1 14q22.1 2010-10-06 2001-11-28 ENSG00000197930 ENSG00000197930 30001 13280 protein-coding gene gene with protein product 615435 ERO1 (S. cerevisiae)-like NA 10671517 Standard NM_014584 NM_014584 NA Approved ERO1A, ERO1-alpha uc001wzv.3 Q96HE7 OTTHUMG00000140301 ENST00000395686.3:c.*1973G>C chr14.hg19:g.53108315C>G NA A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6 hg19 CCDS9709.1 0.02 2.014542 ACAxAGC COVERED NOVEL ERO1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276892.1 9 3.310354 KEEP 0 0 0 11 376 CC 0.993072 0.967218 0 - 6 60 209 0 0 16.283458 36 60 1213 85 ENST00000395686.3 0.142857 0.973965 ERO1L 30001 __UNKNOWN__ __UNKNOWN__ 14 53131771 53131771 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:53131771G>A ENST00000395686.3 - 8 853 NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) NA NA 4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035) ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) tgtaatcccagcactttggga 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF081886 CCDS9709.1 14q22.1 2010-10-06 2001-11-28 ENSG00000197930 ENSG00000197930 30001 13280 protein-coding gene gene with protein product 615435 ERO1 (S. cerevisiae)-like NA 10671517 Standard NM_014584 NM_014584 NA Approved ERO1A, ERO1-alpha uc001wzv.3 Q96HE7 OTTHUMG00000140301 ENST00000395686.3:c.630-1206C>T chr14.hg19:g.53131771G>A NA A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6 hg19 CCDS9709.1 0.02 -0.245631 CCAxCAC COVERED NOVEL ERO1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276892.1 3 2.407904 KEEP 1 0 0 8 290 GG 0.99257 0.636582 0 - 3 60 90 0 0 6.395477 23 60 798 54 ENST00000395686.3 0.115385 0.641347 ERO1L 30001 __UNKNOWN__ __UNKNOWN__ 14 53133581 53133581 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:53133581G>A ENST00000395686.3 - 7 732 NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) NA NA 4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035) ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) cccgggaggcggaggttgcag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF081886 CCDS9709.1 14q22.1 2010-10-06 2001-11-28 ENSG00000197930 ENSG00000197930 30001 13280 protein-coding gene gene with protein product 615435 ERO1 (S. cerevisiae)-like NA 10671517 Standard NM_014584 NM_014584 NA Approved ERO1A, ERO1-alpha uc001wzv.3 Q96HE7 OTTHUMG00000140301 ENST00000395686.3:c.509-368C>T chr14.hg19:g.53133581G>A NA A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6 hg19 CCDS9709.1 0.02 -0.21052 GGCxGAG COVERED NOVEL ERO1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276892.1 4 2.407881 KEEP 0 0 0 8 284 GG 0.99257 0.518282 0 - 4 48 116 0 0 9.262674 15 60 502 44 ENST00000395686.3 0.210526 0.522161 FERMT2 10979 __UNKNOWN__ __UNKNOWN__ 14 53409666 53409666 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:53409666G>C ENST00000395631.2 - 2 374 FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000399304.3_Intron|FERMT2_ENST00000343279.4_Intron|FERMT2_ENST00000341590.3_Intron Q96AC1 FERM2_HUMAN fermitin family member 2 NA NA cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547) ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) cgtggtggctgatgcctgtaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z24725 CCDS9713.1, CCDS45107.1, CCDS45108.1 14q22.1 2013-01-10 2010-06-24 2007-12-14 ENSG00000073712 ENSG00000073712 10979 Fermitins, Pleckstrin homology (PH) domain containing 15767 protein-coding gene gene with protein product kindlin-2 607746 pleckstrin homology domain containing, family C (with FERM domain) member 1, fermitin family homolog 2 (Drosophila) PLEKHC1 NA 8175911, 12697302 Standard NM_006832 NM_006832 NA Approved mig-2, KIND2, UNC112B uc001xac.3 Q96AC1 OTTHUMG00000140309 ENST00000395631.2:c.157+7463C>G chr14.hg19:g.53409666G>C NA B5TJY2|Q14840|Q86TY7 hg19 CCDS9713.1 0.02 -0.254384 GCTxATG COVERED NOVEL FERMT2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276907.2 6 3.310295 KEEP 0 0 0 11 373 GG 0.993634 0.664267 0 - 4 60 134 0 0 10.461733 22 60 737 52 ENST00000395631.2 0.153846 0.668523 FERMT2 10979 __UNKNOWN__ __UNKNOWN__ 14 53413614 53413614 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:53413614G>C ENST00000395631.2 - 2 374 FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000399304.3_Intron|FERMT2_ENST00000343279.4_Intron|FERMT2_ENST00000341590.3_Intron Q96AC1 FERM2_HUMAN fermitin family member 2 NA NA cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547) ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) tggtctcgaagtcctgacctc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z24725 CCDS9713.1, CCDS45107.1, CCDS45108.1 14q22.1 2013-01-10 2010-06-24 2007-12-14 ENSG00000073712 ENSG00000073712 10979 Fermitins, Pleckstrin homology (PH) domain containing 15767 protein-coding gene gene with protein product kindlin-2 607746 pleckstrin homology domain containing, family C (with FERM domain) member 1, fermitin family homolog 2 (Drosophila) PLEKHC1 NA 8175911, 12697302 Standard NM_006832 NM_006832 NA Approved mig-2, KIND2, UNC112B uc001xac.3 Q96AC1 OTTHUMG00000140309 ENST00000395631.2:c.157+3515C>G chr14.hg19:g.53413614G>C NA B5TJY2|Q14840|Q86TY7 hg19 CCDS9713.1 0.02 1.909326 GAAxTCC COVERED NOVEL FERMT2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276907.2 6 5.489067 KEEP 0 2 65 41 1488 GG 1 0.994422 0 - 4 60 133 0 0 8.830206 56 60 1890 131 ENST00000395631.2 0.066667 0.994422 DDHD1 80821 __UNKNOWN__ __UNKNOWN__ 14 53511970 53511970 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:53511970G>C ENST00000323669.5 - 0 4218 DDHD1_ENST00000395606.1_3'UTR|DDHD1_ENST00000357758.3_3'UTR NM_001160148.1 NP_001153620.1 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 NA NA cell death (GO:0008219)|lipid catabolic process (GO:0016042) cytoplasm (GO:0005737) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) gacagggtctggctctgtcac 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051492 CCDS9714.1, CCDS53895.1, CCDS53896.1 14q21 2012-11-23 ENSG00000100523 ENSG00000100523 80821 19714 protein-coding gene gene with protein product phosphatidic acid-preferring phospholipase A1 614603 spastic paraplegia 28 (autosomal recessive) SPG28 NA 11214970, 20359546 Standard NM_030637 NA Approved KIAA1705, PA-PLA1 uc001xai.3 Q8NEL9 OTTHUMG00000140305 ENST00000323669.5:c.*1516C>G chr14.hg19:g.53511970G>C NA G5E9D1|Q8WVH3|Q96LL2|Q9C0F8 hg19 CCDS53895.1 0.02 -0.201761 TCTxGCT COVERED NOVEL DDHD1-003 KNOWN basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000276901.1 7 2.24344 KEEP 0 1 36 20 701 GG 0.999869 0.522093 0 - 3 60 96 0 0 7.292413 18 60 603 50 ENST00000323669.5 0.142857 0.522161 DDHD1 80821 __UNKNOWN__ __UNKNOWN__ 14 53525110 53525110 __UNKNOWN__ Intron SNP A A G rs371541207 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:53525110A>G ENST00000323669.5 - 9 1992 DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron NM_001160148.1 NP_001153620.1 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 NA NA cell death (GO:0008219)|lipid catabolic process (GO:0016042) cytoplasm (GO:0005737) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) tgggattacaagcgtgagcca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051492 CCDS9714.1, CCDS53895.1, CCDS53896.1 14q21 2012-11-23 ENSG00000100523 ENSG00000100523 80821 19714 protein-coding gene gene with protein product phosphatidic acid-preferring phospholipase A1 614603 spastic paraplegia 28 (autosomal recessive) SPG28 NA 11214970, 20359546 Standard NM_030637 NA Approved KIAA1705, PA-PLA1 uc001xai.3 Q8NEL9 OTTHUMG00000140305 ENST00000323669.5:c.1992+84T>C chr14.hg19:g.53525110A>G NA G5E9D1|Q8WVH3|Q96LL2|Q9C0F8 hg19 CCDS53895.1 0.02 -0.25433 ACAxGCG COVERED NOVEL DDHD1-003 KNOWN basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000276901.1 3 3.911923 KEEP 0 0 0 13 413 AA 0.994391 0.664773 0 - 3 60 105 0 0 7.842324 24 60 701 44 ENST00000323669.5 0.111111 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 54141318 54141318 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:54141318T>G NA NA AL163953.2 (60574 upstream) : AL162759.1 (94341 downstream) NA NA NA cagcactttgtgagaccgagg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.54141318T>G NA hg19 0.02 -0.149104 TTGxGAG COVERED NOVEL 0 8 2.407433 KEEP 0 0 0 8 257 TT 0.99257 0.289832 0 3 60 96 0 0 7.87293 11 60 331 34 0.214286 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 54141335 54141335 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:54141335A>G NA NA AL163953.2 (60591 upstream) : AL162759.1 (94324 downstream) NA NA NA gaggtgggagaatcacttgag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.54141335A>G NA hg19 0.02 -0.192948 GAGxATC COVERED NOVEL 0 9 2.708244 KEEP 0 0 0 9 282 AA 0.99254 0.454342 0 3 60 95 0 0 7.261231 17 60 501 41 0.15 0.457757 CDKN3 1033 __UNKNOWN__ __UNKNOWN__ 14 54869054 54869054 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:54869054A>G ENST00000541304.1 + 3 188 CDKN3_ENST00000335183.6_Intron|CDKN3_ENST00000556305.1_Intron|CDKN3_ENST00000442975.2_Intron|CDKN3_ENST00000556102.2_Intron|CDKN3_ENST00000458126.2_Intron|CDKN3_ENST00000543789.2_Intron Q00526 CDK3_HUMAN cyclin-dependent kinase inhibitor 3 NA NA cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) breast(2)|stomach(1) 3 gtgtgtgtgtatgtatatctc 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(40;634 1012 9382 49950 52462) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U02681 CCDS9716.1, CCDS45109.1 14q22 2011-08-25 2008-08-01 ENSG00000100526 ENSG00000100526 1033 Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s 1791 protein-coding gene gene with protein product kinase associated phosphatase, cyclin-dependent kinase inhibitor, CDK2-associated dual specificity phosphatase 123832 NA 8242750, 7698009 Standard NM_005192 NA Approved KAP, CDI1 uc001xap.3 Q16667 OTTHUMG00000140302 ENST00000541304.1:c.148+757A>G chr14.hg19:g.54869054A>G NA hg19 0.02 -0.26296 TGTxTGT COVERED NOVEL CDKN3-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411158.1 7 3.910864 KEEP 0 0 0 13 379 AA 0.994391 0.689777 0 + 3 60 98 0 0 6.998863 27 60 717 50 ENST00000541304.1 0.1 0.693668 GMFB 2764 __UNKNOWN__ __UNKNOWN__ 14 54942541 54942541 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:54942541T>C ENST00000358056.3 - 0 2962 GMFB_ENST00000554908.1_3'UTR NM_004124.2 NP_004115.1 P60983 GMFB_HUMAN glia maturation factor, beta NA NA learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165) intracellular (GO:0005622) enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1) 8 GACTCAGATTTAAGGCTGAAT 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M86492 CCDS9718.1 14q22.2 2010-07-06 ENSG00000197045 ENSG00000197045 2764 4373 protein-coding gene gene with protein product 601713 NA 1712830 Standard NM_004124 NM_004124 NA Approved GMF uc021rtf.1 P60983 OTTHUMG00000140307 ENST00000358056.3:c.*2265A>G chr14.hg19:g.54942541T>C NA B2R499|P17774|Q9BS35 hg19 CCDS9718.1 0.02 3.866608 ATTxAAG COVERED NOVEL GMFB-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276903.2 5 21.962586 KEEP 0 0 0 73 2193 TT 1 1 0 - 32 60 1056 0 0 88.544242 105 60 2938 316 ENST00000358056.3 0.233577 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 55591389 55591389 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:55591389T>G NA NA MAPK1IP1L (54479 upstream) : LGALS3 (4372 downstream) NA NA NA ggccaggctgttctcgaactc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.55591389T>G NA hg19 0.02 -0.201686 CTGxTCT COVERED NOVEL 0 0 2.406898 KEEP 0 0 0 8 238 TT 0.99257 0.4869 0 3 60 88 0 0 6.366531 20 60 562 45 0.130435 0.490544 DLGAP5 9787 __UNKNOWN__ __UNKNOWN__ 14 55615329 55615329 __UNKNOWN__ Intron SNP C C T rs531474267 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:55615329C>T ENST00000247191.2 - 19 2635 DLGAP5_ENST00000395425.2_Missense_Mutation_p.R831Q NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 NA NA cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842) cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616) phosphoprotein phosphatase activity (GO:0004721) biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 cccagctactcgggaggctga 0.443 NA C||| 3 0.000599042 0 0.0029 5008 , , NA 16477 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13633 CCDS9723.1, CCDS53897.1 14q22.3 2008-05-30 2008-05-30 2008-05-30 ENSG00000126787 ENSG00000126787 9787 16864 protein-coding gene gene with protein product discs, large homolog 7 (Drosophila) DLG7 NA 7584026, 7584028 Standard NM_014750 NM_014750 NA Approved KIAA0008, DLG1, HURP uc001xbs.3 Q15398 OTTHUMG00000140310 ENST00000247191.2:c.2419-138G>A chr14.hg19:g.55615329C>T NA A8MTM6|B4DRM8|Q86T11|Q8NG58 hg19 CCDS9723.1 0.02 2.082193 ACTxGGG COVERED . . . . . . . . . . C 4.322 0.059169 0.08339 . . ENSG00000126787 ENST00000395425 T 0.07114 3.22 0.675 -1.35 0.09114 . 45.108100 0.00424 U 0.000075 T 0.02848 0.0085 N 0.01618 -0.8 0.09310 N 1 P 0.44241 0.829 B 0.36989 0.238 T 0.07731 -1.0757 9 0.54805 T 0.06 . . . . . 831 A8MTM6 . Q 831 ENSP00000378815:R831Q ENSP00000378815:R831Q R - 2 0 DLGAP5 54685082 0.014000 0.17966 0.015000 0.15790 0.350000 0.29205 -0.441000 0.06879 -0.969000 0.03573 -0.500000 0.04577 CGA NOVEL DLGAP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276908.2 11 8.559892 KEEP 0 1 30 39 1305 CC 1 1 0 - 7 60 187 0 0 10.459309 114 60 3580 214 ENST00000247191.2 0.057851 1 KTN1 3895 __UNKNOWN__ __UNKNOWN__ 14 56121960 56121960 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:56121960A>G ENST00000395314.3 + 29 2869 KTN1_ENST00000413890.2_Intron|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000395309.3_Intron|KTN1_ENST00000416613.1_Intron|KTN1_ENST00000438792.2_Intron|KTN1_ENST00000554507.1_Intron|KTN1_ENST00000395311.1_Intron NM_001079521.1 NP_001072989.1 Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) NA NA microtubule-based movement (GO:0007018) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822) breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 gcctcccaaaatgctgggatt 0.463 NA T RET papillary thryoid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 14 14q22.1 3895 kinectin 1 (kinesin receptor) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41957.1, CCDS41958.1, CCDS41959.1 14q22.1 2008-05-02 ENSG00000126777 ENSG00000126777 3895 6467 protein-coding gene gene with protein product 600381 NA 9605849 Standard NM_001079521 NA Approved KIAA0004, CG1 uc001xcc.3 Q86UP2 OTTHUMG00000140312 ENST00000395314.3:c.2802-800A>G chr14.hg19:g.56121960A>G NA B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57 hg19 CCDS41957.1 0.02 -0.280641 AAAxTGC COVERED NOVEL KTN1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276912.2 3 3.310324 KEEP 1 0 0 11 356 AA 0.993072 0.734547 0 + 7 60 238 2 0 19.841062 25 60 730 59 ENST00000395314.3 0.21875 0.739671 EXOC5 10640 __UNKNOWN__ __UNKNOWN__ 14 57730226 57730226 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:57730226T>C ENST00000413566.2 - 1 387 EXOC5_ENST00000340918.7_Intron NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 NA NA cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278) cytoplasm (GO:0005737)|cytosol (GO:0005829) breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 tggctcacgcttgtaatccca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U85946 CCDS45111.1 14q22.3 2013-01-22 2005-11-01 2005-11-01 ENSG00000070367 ENSG00000070367 10640 10696 protein-coding gene gene with protein product 604469 SEC10 (S. cerevisiae)-like 1, SEC10-like 1 (S. cerevisiae) SEC10L1 NA 9119050 Standard NM_006544 XM_005267272 NA Approved SEC10, SEC10P uc001xct.3 O00471 OTTHUMG00000171309 ENST00000413566.2:c.27+5113A>G chr14.hg19:g.57730226T>C NA B2R6C5 hg19 CCDS45111.1 0.02 -0.210498 CGCxTGT COVERED NOVEL EXOC5-001 KNOWN upstream_uORF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412905.1 6 2.708489 KEEP 0 0 0 9 292 TT 0.99254 0.518266 0 - 3 60 103 0 0 8.06083 17 60 515 46 ENST00000413566.2 0.15 0.522161 KIAA0586 9786 __UNKNOWN__ __UNKNOWN__ 14 58906862 58906862 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:58906862C>A ENST00000354386.6 + 6 690 KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000261244.5_Intron|KIAA0586_ENST00000556134.1_Intron NM_001244189.1 NP_001231118.1 Q9BVV6 TALD3_HUMAN KIAA0586 NA NA cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737) endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 cagcctcccacagtgctagga 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011158 CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1 14q23.1 2012-12-06 ENSG00000100578 ENSG00000100578 9786 19960 protein-coding gene gene with protein product 610178 NA 16702409 Standard NM_014749 NM_014749 NA Approved Talpid3 uc010trr.2 Q9BVV6 OTTHUMG00000171141 ENST00000354386.6:c.447-1077C>A chr14.hg19:g.58906862C>A NA B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20 hg19 CCDS58320.1 0.02 1.520245 CCAxAGT COVERED NOVEL KIAA0586-003 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000411987.1 20 4.483184 KEEP 1 2 60 36 1290 CC 1 0.994422 0 + 5 60 151 0 0 10.019193 55 60 1841 134 ENST00000354386.6 0.083333 0.994422 RP11-112J1.2 0 __UNKNOWN__ __UNKNOWN__ 14 59317641 59317641 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:59317641A>G ENST00000553762.1 + 0 322 NA NA NA gggtttcactatgttagccag 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000553762.1: chr14.hg19:g.59317641A>G NA hg19 0.02 -0.157781 ACTxTGT COVERED NOVEL RP11-112J1.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000411630.1 4 2.707434 KEEP 3 0 0 9 269 AA 0.99257 0.320408 0 + 3 40 92 0 0 7.192966 14 60 373 31 ENST00000553762.1 0.176471 0.322807 JKAMP 51528 __UNKNOWN__ __UNKNOWN__ 14 59962135 59962135 __UNKNOWN__ Intron SNP C C A rs34744909 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:59962135C>A ENST00000261247.9 + 4 605 JKAMP_ENST00000356057.5_Intron|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000554271.1_Intron|JKAMP_ENST00000425728.2_Intron NM_001098625.1|NM_001284203.1|NM_016475.3 NP_001092095.1|NP_001271132.1|NP_057559.2 Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein NA NA ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(1)|kidney(1)|lung(3) 6 gaataatgatccttataaggt 0.363 NA C||| 2046 0.408546 0.5673 0.4841 5008 , , NA 17015 0.1835 NA 0.3569 False NA ,,, NA NA NA 2504 0.4254 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF212245 CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1 14q22.3 2014-02-14 2009-08-13 2009-08-13 ENSG00000050130 ENSG00000050130 51528 20184 protein-coding gene gene with protein product Jun N-terminal kinase 1-associated membrane protein 611176 chromosome 14 open reading frame 100 C14orf100 NA 16166642, 19269966 Standard NM_001098625 NM_001284202 NA Approved HSPC213, JAMP, HSPC327, CDA06 uc001xef.4 Q9P055 OTTHUMG00000171054 ENST00000261247.9:c.458+193C>A chr14.hg19:g.59962135C>A NA B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3 hg19 CCDS45116.1 0.02 -0.131575 GATxCTT COVERED NOVEL JKAMP-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411430.1 0 3.00966 KEEP 0 0 0 10 340 CC 0.992708 0.227502 0 + 3 60 83 0 0 6.472507 12 60 397 27 ENST00000261247.9 0.2 0.229173 DHRS7 51635 __UNKNOWN__ __UNKNOWN__ 14 60615734 60615734 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:60615734G>A ENST00000216500.5 - 7 1428 PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Intron|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Intron Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 NA NA membrane (GO:0016020) oxidoreductase activity (GO:0016491) endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) tctatcacccgggctggagtg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151844 CCDS9743.1 14q23.1 2011-09-20 ENSG00000100612 ENSG00000100612 51635 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 21524 protein-coding gene gene with protein product retinal short-chain dehydrogenase/reductase 4, short chain dehydrogenase/reductase family 34C, member 1 612833 NA 10800688, 10810093, 19027726 Standard NM_016029 NM_016029 NA Approved retDSR4, SDR34C1 uc001xes.3 Q9Y394 OTTHUMG00000140331 ENST00000216500.5:c.972+336C>T chr14.hg19:g.60615734G>A NA B2R896|Q9UKU2 hg19 CCDS9743.1 0.02 4.341705 CCCxGGC COVERED NOVEL DHRS7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276947.2 34 22.517764 KEEP 1 7 226 154 5396 GG 1 1 0 - 10 60 306 0 0 19.059081 153 60 5178 491 ENST00000216500.5 0.06135 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 60864417 60864417 __UNKNOWN__ IGR SNP A A G rs200340122 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:60864417A>G NA NA CTD-2568P8.1 (73792 upstream) : C14orf39 (38256 downstream) NA NA NA AAAAAAAAAAACATTTTGGAG 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.60864417A>G NA hg19 0.02 1.88871 AAAxCAT COVERED NOVEL 0 1 11.42595 KEEP 0 0 0 38 1178 AA 1 0.981955 0 11 70 361 0 0 29.209169 46 70 1333 114 0.192982 0.981955 PPP2R5E 5529 __UNKNOWN__ __UNKNOWN__ 14 63946913 63946913 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:63946913T>C ENST00000555899.1 - 3 684 PPP2R5E_ENST00000422769.2_Intron|PPP2R5E_ENST00000337537.3_Intron|PPP2R5E_ENST00000553266.1_Intron Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform NA NA regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159) protein phosphatase type 2A regulator activity (GO:0008601) endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) tggtggctcatgcctgtaatc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76703 CCDS9758.1, CCDS61467.1, CCDS61468.1 14q23.2 2010-06-18 2007-01-22 ENSG00000154001 ENSG00000154001 5529 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 9313 protein-coding gene gene with protein product 601647 protein phosphatase 2, regulatory subunit B (B56), epsilon isoform NA 7592815 Standard NM_006246 NM_006246 NA Approved uc001xgd.1 Q16537 OTTHUMG00000140341 ENST00000555899.1:c.158-26310A>G chr14.hg19:g.63946913T>C NA A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4 hg19 0.02 -0.227989 TCAxGCC COVERED NOVEL PPP2R5E-008 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000411877.1 4 2.707841 KEEP 0 0 0 9 274 TT 0.99254 0.607839 0 - 3 60 100 0 0 7.62737 19 60 525 48 ENST00000555899.1 0.136364 0.612407 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64427569 64427569 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:64427569A>C ENST00000341472.5 + 0 1106 SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000357395.3_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ttgagaccagactggacaaca 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 14 14 14 NA NA NA 14 NA NA 64427569 875 1991 2866 SO:0001624 3_prime_UTR_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000341472.5:c.*45A>C chr14.hg19:g.64427569A>C NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 1.672776 CAGxCTG COVERED NOVEL SYNE2-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411904.2 15 15.275306 KEEP 2 1 35 63 1884 AA 1 0.999907 0 + 6 60 187 0 0 12.064147 82 60 2352 206 ENST00000341472.5 0.068182 0.999907 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64617218 64617218 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:64617218C>T ENST00000554584.1 + 83 15441 SYNE2_ENST00000344113.4_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000394768.2_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ggattacaggcgtgagccact 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.15391-2064C>T chr14.hg19:g.64617218C>T NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 -0.149128 AGGxGTG COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 4 2.708289 KEEP 1 0 0 9 303 CC 0.99254 0.289823 0 + 3 60 93 0 0 7.472096 12 60 406 33 ENST00000554584.1 0.2 0.292001 PPP1R36 145376 __UNKNOWN__ __UNKNOWN__ 14 65054728 65054728 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:65054728T>C ENST00000298705.1 + 11 986 RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 PPR36_HUMAN protein phosphatase 1, regulatory subunit 36 NA NA negative regulation of phosphatase activity (GO:0010923) phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864) NA tcccaaagggttgggattaca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9767.1 14q23.2 2012-04-17 2011-10-11 2011-10-11 ENSG00000165807 ENSG00000165807 145376 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 20097 protein-coding gene gene with protein product chromosome 14 open reading frame 50 C14orf50 NA Standard NM_172365 NM_172365 NA Approved uc001xhl.1 Q96LQ0 OTTHUMG00000141316 ENST00000298705.1:c.891-94T>C chr14.hg19:g.65054728T>C NA Q6NTH6 hg19 CCDS9767.1 0.02 -0.412073 GGGxTGG COVERED NOVEL PPP1R36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280667.1 4 2.406165 KEEP 0 0 0 8 240 TT 0.99257 0.941356 0 + 3 60 101 0 0 6.841006 39 60 1088 73 ENST00000298705.1 0.071429 0.948402 CHURC1-FNTB 100529261 __UNKNOWN__ __UNKNOWN__ 14 65449889 65449889 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:65449889G>C ENST00000549987.1 + 4 249 FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron NM_001202559.1 NP_001189488.1 CHURC1-FNTB readthrough NA NA NA gtaatcccaggactttgggag 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 14q23.3 2011-09-28 ENSG00000125954 ENSG00000125954 100529261 42960 other readthrough NA Standard NM_001202558 NA Approved uc010tsl.2 OTTHUMG00000170219 ENST00000549987.1:c.250-21078G>C chr14.hg19:g.65449889G>C NA hg19 0.02 -0.412293 CAGxACT COVERED NOVEL CHURC1-FNTB-001 KNOWN mRNA_start_NF|cds_start_NF|basic|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000408068.1 3 4.814938 KEEP 2 0 0 16 543 GG 0.99649 0.938436 0 + 3 40 103 0 0 6.976994 41 60 1336 92 ENST00000549987.1 0.068182 0.941741 FNTB 2342 __UNKNOWN__ __UNKNOWN__ 14 65490546 65490546 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:65490546T>C ENST00000246166.2 + 5 608 FNTB_ENST00000555742.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron NM_002028.3 NP_002019.1 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta NA NA negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060) cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965) farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) cagccgggcatggtggctcac 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9769.1 14q23.3 2011-09-28 ENSG00000257365 ENSG00000257365 2342 3785 protein-coding gene gene with protein product 134636 NA 8276393 Standard NM_002028 NM_002028 NA Approved FPTB P49356 OTTHUMG00000142811 ENST00000246166.2:c.375-3625T>C chr14.hg19:g.65490546T>C NA B2RDX6|B4E1A0 hg19 CCDS9769.1 0.02 -0.157839 GCAxGGT COVERED NOVEL FNTB-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000286392.1 3 2.70741 KEEP 0 0 0 9 271 TT 0.99254 0.320398 0 + 3 60 85 0 0 6.57987 13 60 370 37 ENST00000246166.2 0.1875 0.322807 CTD-2014B16.3 0 __UNKNOWN__ __UNKNOWN__ 14 66456419 66456419 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:66456419G>C ENST00000554907.1 - 2 111 c.43C>G c.(43-45)Cat>Gat p.H15D NA NA NA gagccgagatggcgccattgc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000554907.1:c.43C>G chr14.hg19:g.66456419G>C ENSP00000451354:p.His15Asp NA hg19 0.02 -0.403077 GATxGCG COVERED . . . . . . . . . . G 0.368 -0.935672 0.02340 . . ENSG00000258847 ENST00000554907 . . . 0.113 0.113 0.14631 . . . . . T 0.40015 0.1100 . . . . . . . . . . . . T 0.48433 -0.9036 2 . . . . . . . . . . . D 15 . . H - 1 0 CTD-2014B16.3 65526172 0.003000 0.15002 0.021000 0.16686 0.104000 0.19210 -0.677000 0.05215 0.183000 0.20059 0.186000 0.17326 CAT NOVEL CTD-2014B16.3-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000412066.1 9 5.417399 KEEP 0 0 0 18 629 GG 0.999859 0.959724 0 - 3 60 99 0 0 6.740396 36 60 1177 88 ENST00000554907.1 0.076923 0.959859 GPHN 10243 __UNKNOWN__ __UNKNOWN__ 14 67514453 67514453 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:67514453A>G ENST00000478722.1 + 11 2127 GPHN_ENST00000544752.2_Intron|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000459628.1_Intron|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000315266.5_Intron NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin NA NA establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740) large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) tgtaatcctaacactttggga 0.478 NA T MLL AL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 14 14q24 10243 gephyrin (GPH) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037806 CCDS9777.1, CCDS32103.1 14q23.3 2008-04-22 ENSG00000171723 ENSG00000171723 10243 15465 protein-coding gene gene with protein product 603930 NA 1319186, 10325225, 18403029 Standard NM_020806 XM_005267250 NA Approved KIAA1385 uc001xix.3 Q9NQX3 OTTHUMG00000029785 ENST00000478722.1:c.1007-10913A>G chr14.hg19:g.67514453A>G NA Q9H4E9|Q9P2G2 hg19 CCDS9777.1 0.02 -0.263136 CTAxCAC COVERED NOVEL GPHN-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286408.1 8 3.009347 KEEP 0 0 0 10 323 AA 0.992708 0.68861 0 + 3 60 101 0 0 7.344037 26 60 792 62 ENST00000478722.1 0.103448 0.693668 MPP5 64398 __UNKNOWN__ __UNKNOWN__ 14 67713087 67713087 __UNKNOWN__ Intron SNP G G A rs541651828 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:67713087G>A ENST00000261681.4 + 1 425 MPP5_ENST00000555925.1_Intron|MPP5_ENST00000556345.1_Intron|MPP5_ENST00000554911.1_Intron NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein domain specific binding (GO:0019904) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) tttgagacagggtctcactct 0.473 NA G||| 1 0.000199681 0 0 5008 , , NA 14205 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022677 CCDS9779.1, CCDS58325.1 14q23.3 2008-08-11 ENSG00000072415 64398 18669 protein-coding gene gene with protein product stardust 606958 NA 11927608 Standard NM_022474 NM_022474 NA Approved PALS1, FLJ12615 uc001xjc.4 Q8N3R9 ENST00000261681.4:c.-237+4837G>A chr14.hg19:g.67713087G>A NA A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0 hg19 CCDS9779.1 0.02 -0.017542 CAGxGTC UNCOVERED NOVEL MPP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412498.1 2 2.407453 KEEP 0 0 0 8 260 GG 0.99257 0 0 + 2 60 60 1 0 6.95335 0 0 0 11 ENST00000261681.4 1 0 PLEKHH1 57475 __UNKNOWN__ __UNKNOWN__ 14 68053149 68053149 __UNKNOWN__ Intron SNP A A G rs749271 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:68053149A>G ENST00000329153.5 + 28 4065 PLEKHH1_ENST00000417684.2_Missense_Mutation_p.Q198R|PLEKHH1_ENST00000559832.1_Intron NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 NA NA cytoskeleton (GO:0005856) endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGCAGTCCTCAAGGCAGGGCA 0.498 NA G||| 1966 0.392572 0.3691 0.3559 5008 , , NA 19635 0.4077 NA 0.3996 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033026 CCDS45128.1 14q24.1 2013-01-10 ENSG00000054690 57475 Pleckstrin homology (PH) domain containing 17733 protein-coding gene gene with protein product NA 10574462 Standard XM_031054 NM_020715 NA Approved KIAA1200 uc001xjl.1 Q9ULM0 ENST00000329153.5:c.3933+335A>G chr14.hg19:g.68053149A>G NA A6H8X6|Q6PJL4|Q6ZWC7 hg19 CCDS45128.1 0.02 1.841844 CTCxAGG COVERED 858 0.39285714285714285 181 0.3678861788617886 118 0.3259668508287293 250 0.4370629370629371 309 0.4076517150395778 G 0.432 -0.902977 0.02453 . . ENSG00000054690 ENST00000417684 . . . 2.07 -2.85 0.05734 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.45483 -0.9258 6 0.33141 T 0.24 . 4.8312 0.13441 0.5523:0.171:0.2767:0.0 rs749271;rs58278169;rs749271 198 E7ESY2 . R 198 . ENSP00000397712:Q198R Q + 2 0 PLEKHH1 67122902 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.708000 0.05035 -1.454000 0.01926 -2.358000 0.00240 CAA NOVEL PLEKHH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412730.3 0 10.814463 KEEP 0 0 0 36 1061 AA 0.999999 0.963773 0 + 4 60 126 0 0 8.460329 46 60 1285 114 ENST00000329153.5 0.08 0.963774 RAD51B 5890 __UNKNOWN__ __UNKNOWN__ 14 69165417 69165417 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:69165417C>G ENST00000488612.1 + 12 1139 O15315 RA51B_HUMAN RAD51 paralog B NA NA ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697) HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 gtttcaccatcttggccaggc 0.562 NA Direct reversal of damage NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U84138 CCDS9789.1, CCDS9790.1 14q23-q24.2 2013-07-02 2013-07-02 2011-07-01 ENSG00000182185 ENSG00000182185 5890 9822 protein-coding gene gene with protein product 602948 RAD51 (S. cerevisiae)-like 1, RAD51-like 1 (S. cerevisiae), RAD51 homolog B (S. cerevisiae) RAD51L1 NA 6261043, 9207106 Standard NM_002877 NA Approved REC2, hREC2, R51H2 uc001xkf.2 O15315 OTTHUMG00000157530 ENST00000488612.1:c.1099-31108C>G chr14.hg19:g.69165417C>G NA O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5 hg19 0.02 -0.15789 CATxTTG COVERED NOVEL RAD51B-005 KNOWN basic protein_coding NA protein_coding OTTHUMT00000349064.1 0 2.40774 KEEP 0 0 0 8 274 CC 0.99257 0.320408 0 + 3 60 92 0 0 7.279192 13 60 428 35 ENST00000488612.1 0.1875 0.322807 DCAF5 8816 __UNKNOWN__ __UNKNOWN__ 14 69577246 69577246 __UNKNOWN__ Intron SNP C C A rs557313131 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:69577246C>A ENST00000389997.6 - 5 670 DCAF5_ENST00000557386.1_Intron|DCAF5_ENST00000553293.1_Intron|DCAF5_ENST00000341516.5_Intron|DCAF5_ENST00000556847.1_Intron|DCAF5_ENST00000554215.1_Intron NM_001284208.1 NP_001271137.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 NA NA protein ubiquitination (GO:0016567) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 cggcctcccacagtgctggga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058727 CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1 14q23-q24.1 2013-01-09 2009-07-17 2009-07-17 8816 WD repeat domain containing, DDB1 and CUL4 associated factors 20224 protein-coding gene gene with protein product 603812 WD repeat domain 22 WDR22 NA 9740667, 9521877 Standard NM_003861 NM_003861 NA Approved BCRP2, D14S1461E, BCRG2, KIAA1824 uc001xkp.3 Q96JK2 ENST00000389997.6:c.665+5836G>T chr14.hg19:g.69577246C>A NA B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5 hg19 0.02 -0.078921 CCAxAGT UNCOVERED NOVEL DCAF5-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000414812.1 4 2.407461 KEEP 1 0 0 8 285 CC 0.99257 0.076761 0 - 3 60 77 0 1 6.642122 6 60 201 24 ENST00000389997.6 0.333333 0.077336 SLC39A9 55334 __UNKNOWN__ __UNKNOWN__ 14 69924116 69924116 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:69924116C>T ENST00000556605.1 + 6 1373 SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000557046.1_Intron|SLC39A9_ENST00000336643.5_Intron|SLC39A9_ENST00000555245.1_Intron NM_001252150.1 NP_001239079.1 Q9NUM3 S39A9_HUMAN solute carrier family 39, member 9 NA NA zinc ion transport (GO:0006829) integral component of membrane (GO:0016021) metal ion transmembrane transporter activity (GO:0046873) breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) gacagggtttcaccatgttgg 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9795.1, CCDS58327.1, CCDS58328.1 14q24.1 2013-07-17 2013-07-17 ENSG00000029364 55334 Solute carriers 20182 protein-coding gene gene with protein product NA Standard NM_018375 NM_018375 NA Approved FLJ11274 uc001xle.3 Q9NUM3 ENST00000556605.1:c.693+1533C>T chr14.hg19:g.69924116C>T NA G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2 hg19 CCDS58327.1 0.02 -0.219276 TTTxACC UNCOVERED NOVEL SLC39A9-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000412445.1 10 3.009906 KEEP 11 0 0 10 362 CC 0 0 0 + 4 41 105 0 0 7.796237 19 60 606 55 ENST00000556605.1 0.173913 0.552887 SLC39A9 55334 __UNKNOWN__ __UNKNOWN__ 14 69924198 69924198 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:69924198A>G ENST00000556605.1 + 6 1373 SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000557046.1_Intron|SLC39A9_ENST00000336643.5_Intron|SLC39A9_ENST00000555245.1_Intron NM_001252150.1 NP_001239079.1 Q9NUM3 S39A9_HUMAN solute carrier family 39, member 9 NA NA zinc ion transport (GO:0006829) integral component of membrane (GO:0016021) metal ion transmembrane transporter activity (GO:0046873) breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) gattacaggcatgagccacca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9795.1, CCDS58327.1, CCDS58328.1 14q24.1 2013-07-17 2013-07-17 ENSG00000029364 55334 Solute carriers 20182 protein-coding gene gene with protein product NA Standard NM_018375 NM_018375 NA Approved FLJ11274 uc001xle.3 Q9NUM3 ENST00000556605.1:c.693+1615A>G chr14.hg19:g.69924198A>G NA G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2 hg19 CCDS58327.1 0.02 -0.228009 GGCxTGA UNCOVERED NOVEL SLC39A9-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000412445.1 5 2.407315 KEEP 3 0 0 8 253 AA 0 0 0 + 3 60 99 0 0 7.592522 18 60 508 48 ENST00000556605.1 0.142857 0.612407 ADAM21 8747 __UNKNOWN__ __UNKNOWN__ 14 70924335 70924335 __UNKNOWN__ Missense_Mutation SNP C C T rs199920662 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:70924335C>T ENST00000603540.1 + 2 377 c.119C>T c.(118-120)cCg>cTg p.P40L ADAM21_ENST00000267499.3_Missense_Mutation_p.P40L|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 40 NA binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338) axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TTCACTTCCCCGGAAGTGGTG 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 97 102 100 NA NA NA 14 NA NA 70924335 2203 4300 6503 SO:0001583 missense AF029900 CCDS9804.1 14q24.1 2008-09-05 2005-08-18 ENSG00000139985 ENSG00000139985 8747 ADAM metallopeptidase domain containing 200 protein-coding gene gene with protein product 603713 a disintegrin and metalloproteinase domain 21 NA 9469942 Standard NM_003813 NA Approved ADAM31 uc001xmd.3 Q9UKJ8 ENST00000603540.1:c.119C>T chr14.hg19:g.70924335C>T ENSP00000474385:p.Pro40Leu NA O43507|Q2VPC6|Q32MR0 hg19 CCDS9804.1 0.02 1.357172 CCCxGGA COVERED . . . . . . . . . . C 7.541 0.660648 0.14645 . . ENSG00000139985 ENST00000267499 T 0.01051 5.4 3.77 2.87 0.33458 . 0.239499 0.21690 U 0.070593 T 0.01870 0.0059 M 0.79343 2.45 0.29294 N 0.869135 P 0.36412 0.552 B 0.34652 0.187 T 0.20706 -1.0267 10 0.32370 T 0.25 . 7.3425 0.26646 0.0:0.8757:0.0:0.1243 . 40 Q9UKJ8 ADA21_HUMAN L 40 ENSP00000267499:P40L ENSP00000267499:P40L P + 2 0 ADAM21 69994088 0.007000 0.16637 0.766000 0.31476 0.269000 0.26545 0.312000 0.19397 0.924000 0.37069 0.563000 0.77884 CCG NOVEL ADAM21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413008.3 2 9.630278 KEEP 2 0 0 32 1075 CC 0.999997 0.98954 0 + 5 40 145 0 0 9.382754 56 60 1790 120 ENST00000603540.1 0.081967 0.989542 RP11-486O13.4 0 __UNKNOWN__ __UNKNOWN__ 14 71005607 71005607 __UNKNOWN__ lincRNA SNP C C T rs538443919 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:71005607C>T ENST00000556646.1 - 0 183 NA NA NA ctccacctcccgggttcaagt 0.507 NA C||| 2 0.000399361 0 0 5008 , , NA 19279 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000556646.1: chr14.hg19:g.71005607C>T NA hg19 0.02 -0.262719 TCCxGGG COVERED NOVEL RP11-486O13.4-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000413007.1 2 2.70716 KEEP 2 0 0 9 284 CC 0.99254 0.688494 0 - 4 60 113 0 0 8.296529 23 60 719 50 ENST00000556646.1 0.148148 0.693668 RGS6 9628 __UNKNOWN__ __UNKNOWN__ 14 72786314 72786314 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:72786314T>G ENST00000355512.6 + 2 84 RGS6_ENST00000343854.6_Intron|RGS6_ENST00000406236.4_Intron|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000407322.4_Intron|RGS6_ENST00000556437.1_Intron|RGS6_ENST00000553525.1_Intron|RGS6_ENST00000553530.1_Intron|RGS6_ENST00000402788.2_Intron|RGS6_ENST00000404301.2_Intron P49758 RGS6_HUMAN regulator of G-protein signaling 6 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871) endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) ctcccaaagttctgggattac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(143;1926 2468 21071 48641) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF073920 CCDS9808.1, CCDS55924.1, CCDS73655.1 14q24.3 2008-07-28 2007-08-14 ENSG00000182732 9628 Regulators of G-protein signaling 10002 protein-coding gene gene with protein product 603894 regulator of G-protein signalling 6 NA 10083744, 14734556 Standard NM_004296 NA Approved uc010ttn.2 P49758 ENST00000355512.6:c.85-32489T>G chr14.hg19:g.72786314T>G NA C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647 hg19 0.02 -0.228035 AGTxCTG COVERED NOVEL RGS6-006 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000413036.1 5 2.407387 KEEP 1 0 0 8 254 TT 0.99257 0.578599 0 + 3 60 108 0 0 8.426668 19 60 562 56 ENST00000355512.6 0.136364 0.58293 NUMB 8650 __UNKNOWN__ __UNKNOWN__ 14 73763876 73763876 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:73763876C>A ENST00000356296.4 - 7 588 NUMB_ENST00000559312.1_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000556772.1_Intron|NUMB_ENST00000355058.3_Intron|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000557597.1_Intron|NUMB_ENST00000555238.1_Intron|NUMB_ENST00000359560.3_Intron|NUMB_ENST00000535282.1_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000454166.4_Intron P49757 NUMB_HUMAN numb homolog (Drosophila) NA NA adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862) apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) actccatctccaaaaaaaata 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 30 34 32 NA NA NA 14 NA NA 73763876 2191 4297 6488 SO:0001627 intron_variant L40393 CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1 14q24.3 2011-11-25 2001-11-28 ENSG00000133961 8650 8060 protein-coding gene gene with protein product 603728 numb (Drosophila) homolog, chromosome 14 open reading frame 41 C14orf41 NA Standard NM_003744 NA Approved uc001xny.1 P49757 ENST00000356296.4:c.309+42G>T chr14.hg19:g.73763876C>A NA B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4 hg19 CCDS32115.1 0.02 -0.254393 CTCxAAA COVERED NOVEL NUMB-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414414.1 1 6.922123 KEEP 0 0 0 23 783 CC 0.999892 0.668451 0 - 3 60 94 2 1 6.849173 22 60 740 57 ENST00000356296.4 0.12 0.668523 HEATR4 399671 __UNKNOWN__ __UNKNOWN__ 14 73974716 73974716 __UNKNOWN__ Intron SNP T T C rs539057843 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:73974716T>C ENST00000553558.1 - 9 2203 HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron NM_001220484.1 NP_001207413.1 Q86WZ0 HEAT4_HUMAN HEAT repeat containing 4 NA NA breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) tcccgaagtgttgggattaca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047590 CCDS9815.1, CCDS9815.2 14q24.3 2013-09-20 ENSG00000187105 ENSG00000187105 399671 16761 protein-coding gene gene with protein product NA 15489334 Standard NM_203309 NM_203309 NA Approved MGC48595 uc021rwf.2 Q86WZ0 OTTHUMG00000171602 ENST00000553558.1:c.1881+121A>G chr14.hg19:g.73974716T>C NA B7Z7V9|E9KL41 hg19 CCDS9815.2 0.02 -0.350696 GTGxTGG COVERED NOVEL HEATR4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414422.2 4 5.105144 KEEP 0 0 0 17 478 TT 0.999366 0.877152 0 - 3 60 100 0 0 6.949987 33 60 890 64 ENST00000553558.1 0.083333 0.877708 COQ6 51004 __UNKNOWN__ __UNKNOWN__ 14 74422753 74422753 __UNKNOWN__ Intron SNP T T C rs184772321 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:74422753T>C ENST00000554920.1 + 4 506 COQ6_ENST00000238709.4_Intron|COQ6_ENST00000334571.2_Intron|COQ6_ENST00000555552.1_Intron|COQ6_ENST00000394026.4_Intron Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase NA NA small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744) cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739) flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) GATggccgggtgcggtggctc 0.502 NA T||| 9 0.00179712 0.0015 0 5008 , , NA 17449 0 NA 0.003 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF132944 CCDS9823.1, CCDS9824.1, CCDS9824.2 14q24.1 2013-05-01 2013-05-01 ENSG00000119723 ENSG00000119723 51004 20233 protein-coding gene gene with protein product 614647 coenzyme Q6 homolog (yeast), coenzyme Q6 homolog, monooxygenase (yeast), coenzyme Q6 homolog, monooxygenase (S. cerevisiae) NA 21540551 Standard NM_182476 NA Approved CGI-10 uc001xph.3 Q9Y2Z9 OTTHUMG00000171260 ENST00000554920.1:c.481+122T>C chr14.hg19:g.74422753T>C NA B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2 hg19 0.02 3.786167 GGGxGCG COVERED NOVEL COQ6-019 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412620.1 20 9.90379 KEEP 0 3 109 71 2191 TT 1 0.999995 0 + 5 60 170 0 1 10.726604 97 60 2832 249 ENST00000554920.1 0.04902 0.999995 ALDH6A1 4329 __UNKNOWN__ __UNKNOWN__ 14 74535894 74535894 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:74535894G>A ENST00000553458.1 - 7 829 CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_5'UTR|ALDH6A1_ENST00000350259.4_Intron|AC005484.5_ENST00000492026.1_RNA NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 NA NA branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) tgcaacctccgcctcccaggt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M93405 CCDS9826.1, CCDS61501.1 14q24.3 2014-02-03 ENSG00000119711 ENSG00000119711 4329 1.2.1.27 Aldehyde dehydrogenases 7179 protein-coding gene gene with protein product 603178 MMSDH NA 1527093 Standard NM_005589 NA Approved uc001xpo.3 Q02252 OTTHUMG00000171203 ENST00000553458.1:c.731-210C>T chr14.hg19:g.74535894G>A NA B2R609|B4DFS8|J3KNU8|Q9UKM8 hg19 CCDS9826.1 0.02 0.895714 TCCxCCT COVERED NOVEL ALDH6A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412309.1 6 18.057838 KEEP 1 0 0 60 2063 GG 1 0.999317 0 - 6 47 141 1 0 8.108928 64 60 2042 152 ENST00000553458.1 0.085714 0.999317 FCF1 51077 __UNKNOWN__ __UNKNOWN__ 14 75183810 75183810 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75183810G>C ENST00000341162.4 + 4 346 FCF1_ENST00000553615.1_Intron|FCF1_ENST00000534938.2_Intron NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) cgcctgtaatgccagcacttt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF132969 CCDS9832.1 14q24.2 2013-05-03 2013-05-03 2007-01-30 ENSG00000119616 ENSG00000119616 51077 20220 protein-coding gene gene with protein product chromosome 14 open reading frame 111, FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) C14orf111 NA 16762320 Standard NM_015962 XR_245690 NA Approved CGI-35, Bka, UTP24 uc001xqh.3 Q9Y324 ENST00000341162.4:c.292+1008G>C chr14.hg19:g.75183810G>C NA Q86TW8|Q8TBL8 hg19 CCDS9832.1 0.02 -0.228087 AATxCCA COVERED NOVEL FCF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413622.1 2 3.009969 KEEP 0 0 0 10 369 GG 0.992708 0.578679 0 + 5 60 163 0 0 13.158546 21 60 717 48 ENST00000341162.4 0.192308 0.58293 FCF1 51077 __UNKNOWN__ __UNKNOWN__ 14 75202540 75202540 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75202540A>G ENST00000341162.4 + 0 1558 NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) aaagtgctggaattacagaca 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132969 CCDS9832.1 14q24.2 2013-05-03 2013-05-03 2007-01-30 ENSG00000119616 ENSG00000119616 51077 20220 protein-coding gene gene with protein product chromosome 14 open reading frame 111, FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) C14orf111 NA 16762320 Standard NM_015962 XR_245690 NA Approved CGI-35, Bka, UTP24 uc001xqh.3 Q9Y324 ENST00000341162.4:c.*907A>G chr14.hg19:g.75202540A>G NA Q86TW8|Q8TBL8 hg19 CCDS9832.1 0.02 3.371042 TGGxATT COVERED NOVEL FCF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413622.1 28 10.800425 KEEP 0 2 72 61 1872 AA 1 1 0 + 10 60 301 1 0 19.35163 127 60 3649 281 ENST00000341162.4 0.072993 1 FCF1 51077 __UNKNOWN__ __UNKNOWN__ 14 75202548 75202548 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75202548A>G ENST00000341162.4 + 0 1566 NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) ggaattacagacatgagccac 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132969 CCDS9832.1 14q24.2 2013-05-03 2013-05-03 2007-01-30 ENSG00000119616 ENSG00000119616 51077 20220 protein-coding gene gene with protein product chromosome 14 open reading frame 111, FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) C14orf111 NA 16762320 Standard NM_015962 XR_245690 NA Approved CGI-35, Bka, UTP24 uc001xqh.3 Q9Y324 ENST00000341162.4:c.*915A>G chr14.hg19:g.75202548A>G NA Q86TW8|Q8TBL8 hg19 CCDS9832.1 0.02 3.561533 CAGxCAT COVERED NOVEL FCF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413622.1 31 11.098126 KEEP 0 2 72 62 1895 AA 1 1 0 + 5 60 168 1 0 9.890607 131 60 3789 277 ENST00000341162.4 0.036765 1 FCF1 51077 __UNKNOWN__ __UNKNOWN__ 14 75202668 75202668 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75202668A>G ENST00000341162.4 + 0 1686 NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) gcagtggcgcaatctcggctc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132969 CCDS9832.1 14q24.2 2013-05-03 2013-05-03 2007-01-30 ENSG00000119616 ENSG00000119616 51077 20220 protein-coding gene gene with protein product chromosome 14 open reading frame 111, FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) C14orf111 NA 16762320 Standard NM_015962 XR_245690 NA Approved CGI-35, Bka, UTP24 uc001xqh.3 Q9Y324 ENST00000341162.4:c.*1035A>G chr14.hg19:g.75202668A>G NA Q86TW8|Q8TBL8 hg19 CCDS9832.1 0.02 1.426642 CGCxATC COVERED NOVEL FCF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413622.1 6 8.660962 KEEP 1 1 35 41 1272 AA 1 0.999804 0 + 5 60 146 0 0 8.933187 73 60 2114 141 ENST00000341162.4 0.064103 0.999804 FCF1 51077 __UNKNOWN__ __UNKNOWN__ 14 75202680 75202680 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75202680T>C ENST00000341162.4 + 0 1698 NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) tctcggctcattgcaacctcc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132969 CCDS9832.1 14q24.2 2013-05-03 2013-05-03 2007-01-30 ENSG00000119616 ENSG00000119616 51077 20220 protein-coding gene gene with protein product chromosome 14 open reading frame 111, FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) C14orf111 NA 16762320 Standard NM_015962 XR_245690 NA Approved CGI-35, Bka, UTP24 uc001xqh.3 Q9Y324 ENST00000341162.4:c.*1047T>C chr14.hg19:g.75202680T>C NA Q86TW8|Q8TBL8 hg19 CCDS9832.1 0.02 1.611421 TCAxTGC COVERED NOVEL FCF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413622.1 8 10.747712 KEEP 1 1 38 49 1437 TT 1 0.999962 0 + 6 60 198 0 0 13.096347 84 60 2332 161 ENST00000341162.4 0.066667 0.999962 FCF1 51077 __UNKNOWN__ __UNKNOWN__ 14 75202850 75202850 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75202850T>G ENST00000341162.4 + 0 1868 NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) ggtggctcattcctgtaatcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132969 CCDS9832.1 14q24.2 2013-05-03 2013-05-03 2007-01-30 ENSG00000119616 ENSG00000119616 51077 20220 protein-coding gene gene with protein product chromosome 14 open reading frame 111, FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) C14orf111 NA 16762320 Standard NM_015962 XR_245690 NA Approved CGI-35, Bka, UTP24 uc001xqh.3 Q9Y324 ENST00000341162.4:c.*1217T>G chr14.hg19:g.75202850T>G NA Q86TW8|Q8TBL8 hg19 CCDS9832.1 0.02 1.663824 CATxCCT COVERED NOVEL FCF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413622.1 13 5.859732 KEEP 0 4 148 71 2270 TT 1 0.999956 0 + 4 60 141 0 0 8.945618 84 60 2508 230 ENST00000341162.4 0.045455 0.999956 FCF1 51077 __UNKNOWN__ __UNKNOWN__ 14 75203081 75203081 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75203081T>C ENST00000341162.4 + 0 2099 NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) cgccactgcattccagcctgg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132969 CCDS9832.1 14q24.2 2013-05-03 2013-05-03 2007-01-30 ENSG00000119616 ENSG00000119616 51077 20220 protein-coding gene gene with protein product chromosome 14 open reading frame 111, FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) C14orf111 NA 16762320 Standard NM_015962 XR_245690 NA Approved CGI-35, Bka, UTP24 uc001xqh.3 Q9Y324 ENST00000341162.4:c.*1448T>C chr14.hg19:g.75203081T>C NA Q86TW8|Q8TBL8 hg19 CCDS9832.1 0.02 3.795089 GCAxTCC COVERED NOVEL FCF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413622.1 16 4.650915 KEEP 2 4 139 64 1901 TT 1 0.999995 0 + 7 60 227 1 0 15.096458 91 60 2515 244 ENST00000341162.4 0.071429 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 75400132 75400132 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75400132T>C NA NA RPS6KL1 (10033 upstream) : PGF (8404 downstream) NA NA NA cctcggcctctcaaagtgctg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.75400132T>C NA hg19 0.02 -0.289252 CTCxCAA UNCOVERED NOVEL 0 9 2.407288 KEEP 3 0 0 8 254 TT 0 0 0 3 60 107 0 0 7.853171 28 60 832 62 0.096774 0.760887 MLH3 27030 __UNKNOWN__ __UNKNOWN__ 14 75489499 75489499 __UNKNOWN__ Intron SNP C C T rs191312542 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75489499C>T ENST00000556740.1 - 10 4126 MLH3_ENST00000238662.7_Intron|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000380968.2_Intron|MLH3_ENST00000355774.2_Intron Q9UHC1 MLH3_HUMAN mutL homolog 3 NA NA ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130) chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTGATCACTGCTATGTTGAAG 0.517 NA Mismatch excision repair (MMR) C||| 2 0.000399361 0 0.0029 5008 , , NA 19031 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 153 141 145 NA NA NA 14 NA NA 75489499 2203 4300 6503 SO:0001627 intron_variant AF195657 CCDS9837.1, CCDS32123.1 14q24.3 2014-09-17 2013-09-12 ENSG00000119684 27030 7128 protein-coding gene gene with protein product 604395 mutL (E. coli) homolog 3, mutL homolog 3 (E. coli) NA 10615123 Standard NM_014381 XR_245681 NA Approved uc001xrd.1 Q9UHC1 ENST00000556740.1:c.4090+17G>A chr14.hg19:g.75489499C>T NA P49751|Q56DK9|Q9P292|Q9UHC0 hg19 CCDS32123.1 0.02 -0.078931 CTGxTAT UNCOVERED NOVEL MLH3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415006.1 0 3.912872 KEEP 0 0 0 13 472 CC 0.994391 0.076902 0 - 4 60 109 0 0 10.121719 5 60 171 22 ENST00000556740.1 0.444444 0.077336 MLH3 27030 __UNKNOWN__ __UNKNOWN__ 14 75503326 75503326 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75503326C>T ENST00000556740.1 - 5 3679 MLH3_ENST00000556257.1_Intron|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000238662.7_Intron|MLH3_ENST00000380968.2_Intron|MLH3_ENST00000355774.2_Intron Q9UHC1 MLH3_HUMAN mutL homolog 3 NA NA ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130) chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) ggattacaggcgtgagccacc 0.547 NA Mismatch excision repair (MMR) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF195657 CCDS9837.1, CCDS32123.1 14q24.3 2014-09-17 2013-09-12 ENSG00000119684 27030 7128 protein-coding gene gene with protein product 604395 mutL (E. coli) homolog 3, mutL homolog 3 (E. coli) NA 10615123 Standard NM_014381 XR_245681 NA Approved uc001xrd.1 Q9UHC1 ENST00000556740.1:c.3643+1716G>A chr14.hg19:g.75503326C>T NA P49751|Q56DK9|Q9P292|Q9UHC0 hg19 CCDS32123.1 0.02 1.076373 AGGxGTG COVERED NOVEL MLH3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415006.1 5 17.756941 KEEP 2 0 0 59 2049 CC 1 0.999895 0 - 5 60 141 0 0 8.242546 80 60 2682 184 ENST00000556740.1 0.058824 0.999895 NEK9 91754 __UNKNOWN__ __UNKNOWN__ 14 75585671 75585671 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75585671C>G ENST00000238616.5 - 5 683 NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 NA NA mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077) cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674) endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) ATTAAGTTCACACAGATAATT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 39 40 40 NA NA NA 14 NA NA 75585671 2202 4299 6501 SO:0001627 intron_variant AY048580 CCDS9839.1 14q24.2 2012-11-15 2012-11-15 ENSG00000119638 ENSG00000119638 91754 18591 protein-coding gene gene with protein product 609798 NIMA (never in mitosis gene a)- related kinase 9 NA 11864968 Standard NM_033116 NM_033116 NA Approved Nek8, NERCC, DKFZp434D0935, MGC16714 uc001xrl.3 Q8TD19 OTTHUMG00000171768 ENST00000238616.5:c.525-33G>C chr14.hg19:g.75585671C>G NA Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6 hg19 CCDS9839.1 0.02 1.95312 TCAxACA COVERED NOVEL NEK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415021.1 1 15.349245 KEEP 0 0 0 51 1819 CC 1 0.989542 0 - 25 60 860 0 0 80.465569 34 60 1166 159 ENST00000238616.5 0.423729 0.989542 TMED10 10972 __UNKNOWN__ __UNKNOWN__ 14 75598831 75598831 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75598831G>C ENST00000303575.4 - 0 3468 RP11-950C14.7_ENST00000556236.1_RNA NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) NA NA beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199) cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589) syntaxin binding (GO:0019905) endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) tggctcacgcgtgtaatccca 0.453 NA OREG0022812 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832012, X97442 CCDS9840.1 14q24.3 2008-08-11 ENSG00000170348 ENSG00000170348 10972 16998 protein-coding gene gene with protein product 605406 NA 7596406, 8663407 Standard NM_006827 NM_006827 NA Approved TMP21, P24(DELTA) uc001xrm.1 P49755 ENST00000303575.4:c.*2757C>G chr14.hg19:g.75598831G>C 1161 B2R605|Q15602|Q16536|Q86TC2|Q86TS5 hg19 CCDS9840.1 0.02 -0.368443 CGCxTGT COVERED NOVEL TMED10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415034.1 7 4.850486 KEEP 2 1 31 27 946 GG 0.999997 0.899311 0 - 4 60 139 0 0 10.256741 34 60 1130 82 ENST00000303575.4 0.105263 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 75770678 75770678 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:75770678A>G NA NA RP11-293M10.5 (7337 upstream) : RP11-293M10.6 (119707 downstream) NA NA NA gattacaggcatgagccaccg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.75770678A>G NA hg19 0.02 -0.157845 GGCxTGA COVERED NOVEL 0 4 2.406112 KEEP 0 0 0 8 246 AA 0.99257 0.351317 0 3 60 93 0 0 7.379426 13 60 368 35 0.1875 0.353947 TTLL5 23093 __UNKNOWN__ __UNKNOWN__ 14 76143312 76143312 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:76143312C>A ENST00000557636.1 + 4 396 TTLL5_ENST00000286650.5_Intron|TTLL5_ENST00000556977.1_Intron|TTLL5_ENST00000298832.9_Intron Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 NA NA fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874) NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) gacagggtctcctatgttgct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF107885 CCDS32124.1 14q24.3 2014-09-09 2005-07-29 2005-07-29 ENSG00000119685 ENSG00000119685 23093 Tubulin tyrosine ligase-like family 19963 protein-coding gene gene with protein product 612268 KIAA0998 KIAA0998 NA 15890843 Standard NM_015072 NM_015072 NA Approved uc001xrx.3 Q6EMB2 OTTHUMG00000171611 ENST00000557636.1:c.182-4576C>A chr14.hg19:g.76143312C>A NA B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4 hg19 0.02 -0.087711 TCTxCTA UNCOVERED NOVEL TTLL5-016 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000414451.1 4 2.708586 KEEP 0 0 0 9 307 CC 0.99254 0.098977 0 + 3 60 87 0 0 7.478263 7 60 222 19 ENST00000557636.1 0.3 0.099721 ZDHHC22 283576 __UNKNOWN__ __UNKNOWN__ 14 77605820 77605820 __UNKNOWN__ Missense_Mutation SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:77605820G>T ENST00000319374.4 - 2 464 c.262C>A c.(262-264)Cca>Aca p.P88T RP11-463C8.4_ENST00000557752.1_Intron NM_174976.2 NP_777636.2 Q8N966 ZDH22_HUMAN zinc finger, DHHC-type containing 22 88 NA protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) p.P88A(2) kidney(1)|lung(1)|urinary_tract(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0277) GAGGGGCATGGAGTCTTCCTG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) urinary_tract(2) 25 29 28 NA NA NA 14 NA NA 77605820 2087 4202 6289 SO:0001583 missense AK095612 CCDS45140.1 14q24.3 2008-08-06 2004-03-05 2004-03-10 ENSG00000177108 ENSG00000177108 283576 Zinc fingers, DHHC-type 20106 protein-coding gene gene with protein product chromosome 14 open reading frame 59 C14orf59 NA Standard NM_174976 NM_174976 NA Approved uc010asp.3 Q8N966 ENST00000319374.4:c.262C>A chr14.hg19:g.77605820G>T ENSP00000318222:p.Pro88Thr NA A6NH02|B7Z2L5|Q149P4 hg19 CCDS45140.1 0.02 4.115607 ATGxAGT COVERED . . . . . . . . . . G 0.418 -0.909672 0.02434 . . ENSG00000177108 ENST00000319374;ENST00000555389 T 0.55760 0.5 5.57 -0.327 0.12694 . 1.194550 0.05672 N 0.588735 T 0.26376 0.0644 N 0.03608 -0.345 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.16867 -1.0388 10 0.20519 T 0.43 . 6.1457 0.20285 0.2488:0.249:0.5022:0.0 . 88 Q8N966 ZDH22_HUMAN T 88 ENSP00000318222:P88T ENSP00000318222:P88T P - 1 0 ZDHHC22 76675573 1.000000 0.71417 0.000000 0.03702 0.077000 0.17291 3.494000 0.53273 0.253000 0.21552 -0.367000 0.07326 CCA NOVEL ZDHHC22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414289.1 0 19.863955 KEEP 0 0 0 66 2299 GG 1 1 0 - 72 60 1938 0 0 175.950602 106 60 3501 307 ENST00000319374.4 0.404494 1 TMED8 283578 __UNKNOWN__ __UNKNOWN__ 14 77803953 77803953 __UNKNOWN__ 3'UTR SNP C C T rs559531956 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:77803953C>T ENST00000216468.7 - 0 5194 NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) aggctggtctcgaactcctgg 0.542 NA C||| 1 0.000199681 0 0.0014 5008 , , NA 17705 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095650 CCDS32125.1 14q24.3 2005-08-26 2005-08-26 2005-01-07 ENSG00000100580 283578 18633 protein-coding gene gene with protein product family with sequence similarity 15, member B, transmembrane emp24 domain containing 8 FAM15B NA Standard NM_213601 NM_213601 NA Approved uc001xto.1 Q6PL24 ENST00000216468.7:c.*4161G>A chr14.hg19:g.77803953C>T NA B3KTI6|Q3MJB0|Q9P1V9 hg19 CCDS32125.1 0.02 -0.429781 TCTxGAA COVERED NOVEL TMED8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414100.1 1 9.027851 KEEP 0 0 0 30 992 CC 0.999997 0.959856 0 - 4 60 114 0 0 7.336773 44 60 1376 89 ENST00000216468.7 0.083333 0.959859 NOXRED1 122945 __UNKNOWN__ __UNKNOWN__ 14 77872977 77872977 __UNKNOWN__ Intron SNP C C G rs57049515|rs112859917|rs66695148|rs71452847|rs57651325|rs80329306 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:77872977C>G ENST00000380835.2 - 4 849 NM_001113475.2 NP_001106946.1 Q6NXP6 NXRD1_HUMAN NADP-dependent oxidoreductase domain containing 1 NA NA proline biosynthetic process (GO:0006561) pyrroline-5-carboxylate reductase activity (GO:0004735) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 cacacacacacaGAGAGAGAG 0.438 NA c||| 809 0.161542 0.2504 0.1153 5008 , , NA 16884 0.0298 NA 0.2008 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 - 11,4393 2,7,2193 32 29 30 NA NA 0.1 14 dbSNP_132 30 74,8514 9,56,4229 no intron NOXRED1 NM_001113475.2 11,63,6422 GG,GC,CC NA 0.8617,0.2498,0.6542 77872977 85,12907 2202 4294 6496 SO:0001627 intron_variant AK057371 CCDS45142.1 14q24.3 2011-09-30 2011-09-30 2011-09-30 ENSG00000165555 ENSG00000165555 122945 20487 protein-coding gene gene with protein product chromosome 14 open reading frame 148 C14orf148 NA Standard NM_138791 NM_001113475 NA Approved FLJ32809 uc001xtr.3 Q6NXP6 OTTHUMG00000171554 ENST00000380835.2:c.682+89G>C chr14.hg19:g.77872977C>G NA B3KQ47|O95435 hg19 CCDS45142.1 0.02 -0.192941 ACAxAGA COVERED NOVEL NOXRED1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414103.1 3 3.608891 KEEP 0 0 0 12 404 CC 0.993634 0.454842 0 - 3 60 103 0 0 8.378606 13 60 427 40 ENST00000380835.2 0.1875 0.457757 AHSA1 10598 __UNKNOWN__ __UNKNOWN__ 14 77927416 77927416 __UNKNOWN__ Intron SNP C C T rs192730139 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:77927416C>T ENST00000555457.1 + 2 62 AHSA1_ENST00000216479.3_Intron|AHSA1_ENST00000535854.2_Intron O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) NA NA positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062) ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087) endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) gcaggagaatcgcttgaaccc 0.522 NA C||| 1 0.000199681 8e-04 0 5008 , , NA 14479 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ243310 CCDS9863.1 14q 2008-02-05 2003-04-04 2003-04-11 ENSG00000100591 10598 1189 protein-coding gene gene with protein product 608466 chromosome 14 open reading frame 3 C14orf3 NA Standard NM_012111 NM_012111 NA Approved p38 uc001xtw.3 O95433 ENST00000555457.1:c.63-1087C>T chr14.hg19:g.77927416C>T NA B2R9L2|B4DUR9|Q96IL6|Q9P060 hg19 0.02 -0.263141 AATxGCT COVERED NOVEL AHSA1-009 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000414024.1 10 2.407811 KEEP 0 0 0 8 279 CC 0.99257 0.734176 0 + 4 60 112 2 0 8.059203 25 60 813 51 ENST00000555457.1 0.137931 0.739671 AHSA1 10598 __UNKNOWN__ __UNKNOWN__ 14 77927427 77927427 __UNKNOWN__ Intron SNP A A G rs190109737 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:77927427A>G ENST00000555457.1 + 2 62 AHSA1_ENST00000216479.3_Intron|AHSA1_ENST00000535854.2_Intron O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) NA NA positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062) ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087) endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) gcttgaacccaggaggcggag 0.517 NA A||| 1 0.000199681 0 0.0014 5008 , , NA 15072 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ243310 CCDS9863.1 14q 2008-02-05 2003-04-04 2003-04-11 ENSG00000100591 10598 1189 protein-coding gene gene with protein product 608466 chromosome 14 open reading frame 3 C14orf3 NA Standard NM_012111 NM_012111 NA Approved p38 uc001xtw.3 O95433 ENST00000555457.1:c.63-1076A>G chr14.hg19:g.77927427A>G NA B2R9L2|B4DUR9|Q96IL6|Q9P060 hg19 0.02 -0.271897 CCCxGGA COVERED NOVEL AHSA1-009 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000414024.1 10 2.40732 KEEP 0 0 0 8 252 AA 0.99257 0.711986 0 + 3 60 94 0 0 6.598378 27 60 818 53 ENST00000555457.1 0.1 0.717315 AHSA1 10598 __UNKNOWN__ __UNKNOWN__ 14 77935308 77935308 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:77935308G>C ENST00000555457.1 + 4 247 AHSA1_ENST00000216479.3_Intron O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) NA NA positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062) ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087) endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) acctcagcctgccaaagtgct 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ243310 CCDS9863.1 14q 2008-02-05 2003-04-04 2003-04-11 ENSG00000100591 10598 1189 protein-coding gene gene with protein product 608466 chromosome 14 open reading frame 3 C14orf3 NA Standard NM_012111 NM_012111 NA Approved p38 uc001xtw.3 O95433 ENST00000555457.1:c.248-112G>C chr14.hg19:g.77935308G>C NA B2R9L2|B4DUR9|Q96IL6|Q9P060 hg19 0.02 3.789086 CCTxCCA COVERED . . . . . . . . . . G 0.001 -3.283878 0.00020 . . ENSG00000100591 ENST00000557476 T 0.00547 6.66 0.541 -1.08 0.09936 . . . . . T 0.00328 0.0010 . . . 0.09310 N 1 . . . . . . T 0.39418 -0.9615 4 . . . . . . . . . . . S 57 ENSP00000451474:C57S . C + 2 0 AHSA1 77005061 0.000000 0.05858 0.001000 0.08648 0.017000 0.09413 -1.371000 0.02573 -1.436000 0.01970 -0.689000 0.03729 TGC NOVEL AHSA1-009 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000414024.1 16 5.755745 KEEP 0 3 96 53 1826 GG 1 1 0 + 6 60 196 0 1 12.216227 110 60 3791 244 ENST00000555457.1 0.051724 1 ADCK1 57143 __UNKNOWN__ __UNKNOWN__ 14 78366886 78366886 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:78366886T>C ENST00000238561.5 + 6 840 ADCK1_ENST00000341211.5_Intron NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 NA NA extracellular region (GO:0005576)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) gctgagatcatgccattgcat 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK096919 CCDS9869.1, CCDS45144.1 14q24 2005-10-30 57143 19038 protein-coding gene gene with protein product NA 12471243 Standard NM_020421 NM_020421 NA Approved FLJ39600 uc001xui.3 Q86TW2 ENST00000238561.5:c.741+1285T>C chr14.hg19:g.78366886T>C NA B3KUD5|Q6PD65|Q9UIE6 hg19 CCDS9869.1 0.02 3.268768 TCAxGCC COVERED NOVEL ADCK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413864.1 5 18.949125 KEEP 1 0 0 63 1825 TT 1 0.999984 0 + 6 70 187 1 0 11.853977 89 70 2471 195 ENST00000238561.5 0.063158 0.999984 ADCK1 57143 __UNKNOWN__ __UNKNOWN__ 14 78366923 78366923 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:78366923G>C ENST00000238561.5 + 6 840 ADCK1_ENST00000341211.5_Intron NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 NA NA extracellular region (GO:0005576)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) gagcgagactgcgtctcaagg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK096919 CCDS9869.1, CCDS45144.1 14q24 2005-10-30 57143 19038 protein-coding gene gene with protein product NA 12471243 Standard NM_020421 NM_020421 NA Approved FLJ39600 uc001xui.3 Q86TW2 ENST00000238561.5:c.741+1322G>C chr14.hg19:g.78366923G>C NA B3KUD5|Q6PD65|Q9UIE6 hg19 CCDS9869.1 0.02 5.829871 ACTxCGT COVERED NOVEL ADCK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413864.1 27 23.547466 KEEP 1 2 71 103 3676 GG 1 1 0 + 8 60 269 2 1 16.976754 150 70 5179 373 ENST00000238561.5 0.050633 1 NRXN3 9369 __UNKNOWN__ __UNKNOWN__ 14 80328228 80328228 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:80328228C>G ENST00000554719.1 + 17 3598 c.3107C>G c.(3106-3108)aCg>aGg p.T1036R NRXN3_ENST00000428277.2_Missense_Mutation_p.T434R|NRXN3_ENST00000557594.1_Missense_Mutation_p.T612R|NRXN3_ENST00000335750.5_Missense_Mutation_p.T1036R|NRXN3_ENST00000281127.7_Missense_Mutation_p.T407R|NRXN3_ENST00000556003.1_3'UTR NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 612 NA adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625) integral component of membrane (GO:0016021) cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGCAACGGCACGCTCATGAAG 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 87 83 84 NA NA NA 14 NA NA 80328228 2203 4300 6503 SO:0001583 missense AB018286 CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1 14q31 2010-01-19 ENSG00000021645 9369 8010 protein-coding gene gene with protein product 600567 chromosome 14 open reading frame 60 C14orf60 NA 11944992, 12379233 Standard NM_001105250 NM_004796 NA Approved KIAA0743 uc001xun.4 Q9HDB5 ENST00000554719.1:c.3107C>G chr14.hg19:g.80328228C>G ENSP00000451648:p.Thr1036Arg NA A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8 hg19 CCDS9870.1 0.02 3.895292 GCAxGCT COVERED . . . . . . . . . . C 14.91 2.675565 0.47781 . . ENSG00000021645 ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277 T;T;T;T;T 0.67698 -0.28;-0.28;1.39;1.49;1.25 5.9 4.83 0.62350 . 0.136731 0.53938 D 0.000059 T 0.71986 0.3405 L 0.46157 1.445 0.29419 N 0.860679 D;P;P;P 0.64830 0.994;0.955;0.88;0.753 P;P;P;B 0.56865 0.808;0.547;0.566;0.373 T 0.67921 -0.5545 9 . . . . 15.9431 0.79773 0.0:0.9255:0.0:0.0745 . 434;407;612;1036 Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3 .;.;NRX3B_HUMAN;. R 1618;1036;1036;612;407;434 ENSP00000451648:T1036R;ENSP00000338349:T1036R;ENSP00000451672:T612R;ENSP00000281127:T407R;ENSP00000394426:T434R . T + 2 0 NRXN3 79397981 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 6.068000 0.71201 2.788000 0.95919 0.650000 0.86243 ACG NOVEL NRXN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413787.1 7 43.627523 KEEP 0 0 0 145 4941 CC 1 1 0 + 56 60 1938 0 0 178.517828 89 60 2890 385 ENST00000554719.1 0.386207 1 DIO2 1734 __UNKNOWN__ __UNKNOWN__ 14 80669596 80669596 __UNKNOWN__ Silent SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:80669596C>T ENST00000557010.1 - 4 643 c.258G>A c.(256-258)gtG>gtA p.V86V DIO2_ENST00000557125.1_Intron|DIO2_ENST00000555750.1_Silent_p.V122V|DIO2_ENST00000422005.3_Silent_p.V86V|DIO2_ENST00000438257.4_Silent_p.V86V NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 86 NA cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) AGACATGCACCACACTGGAAT 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 36 36 36 NA NA NA 14 NA NA 80669596 1982 4176 6158 SO:0001819 synonymous_variant AF007144 CCDS45146.1, CCDS55934.1 14q24.2-q24.3 2014-05-02 ENSG00000211448 ENSG00000211448 1734 1.97.1.10 2884 protein-coding gene gene with protein product thyroxine deiodinase, type II, deiodonase-2, deiodinase-2 601413 NA 8755651, 10343107 Standard NM_001007023 NA Approved TXDI2, SelY uc021rxb.1 Q92813 OTTHUMG00000171443 ENST00000557010.1:c.258G>A chr14.hg19:g.80669596C>T NA B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1 hg19 CCDS45146.1 0.02 1.392239 CACxACA COVERED NOVEL DIO2-001 KNOWN basic|appris_principal|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000413428.2 3 10.827383 KEEP 0 0 0 36 1224 CC 0.999999 0.981955 0 - 17 70 476 0 0 40.779645 39 70 1307 126 ENST00000557010.1 0.303571 0.981955 DIO2 1734 __UNKNOWN__ __UNKNOWN__ 14 80677801 80677801 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:80677801G>C ENST00000557010.1 - 3 400 c.15C>G c.(13-15)agC>agG p.S5R DIO2_ENST00000557125.1_Missense_Mutation_p.S5R|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000555750.1_Missense_Mutation_p.S5R|DIO2_ENST00000422005.3_Missense_Mutation_p.S5R|DIO2_ENST00000438257.4_Missense_Mutation_p.S5R NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 5 NA cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) GCAAGTCTACGCTGAGGATGC 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 30 32 31 NA NA NA 14 NA NA 80677801 2051 4200 6251 SO:0001583 missense AF007144 CCDS45146.1, CCDS55934.1 14q24.2-q24.3 2014-05-02 ENSG00000211448 ENSG00000211448 1734 1.97.1.10 2884 protein-coding gene gene with protein product thyroxine deiodinase, type II, deiodonase-2, deiodinase-2 601413 NA 8755651, 10343107 Standard NM_001007023 NA Approved TXDI2, SelY uc021rxb.1 Q92813 OTTHUMG00000171443 ENST00000557010.1:c.15C>G chr14.hg19:g.80677801G>C ENSP00000451419:p.Ser5Arg NA B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1 hg19 CCDS45146.1 0.02 3.850504 TACxCTG COVERED . . . . . . . . . . G 12.81 2.048734 0.36181 . . ENSG00000211448 ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838;ENST00000557125;ENST00000554188;ENST00000553968;ENST00000553594 T;T;T;T;T 0.31510 1.49;1.49;1.49;1.49;1.49 5.57 5.57 0.84162 . 0.000000 0.85682 D 0.000000 T 0.51193 0.1660 M 0.75447 2.3 0.41969 D 0.990746 D;D;D;D 0.89917 0.997;0.998;0.997;1.0 P;D;D;D 0.79108 0.864;0.916;0.918;0.992 T 0.56123 -0.8031 10 0.87932 D 0 . 7.2785 0.26297 0.2035:0.0:0.7965:0.0 . 5;5;5;5 Q92813-2;Q92813;G3V315;A8K845 .;IOD2_HUMAN;.;. R 5 ENSP00000405854:S5R;ENSP00000451419:S5R;ENSP00000411438:S5R;ENSP00000450980:S5R;ENSP00000451136:S5R ENSP00000373490:S5R S - 3 2 DIO2 79747554 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 1.715000 0.37971 2.608000 0.88229 0.555000 0.69702 AGC NOVEL DIO2-001 KNOWN basic|appris_principal|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000413428.2 2 31.264954 KEEP 0 0 0 104 3645 GG 1 0.999998 0 - 19 60 622 0 0 48.963245 95 60 3168 303 ENST00000557010.1 0.166667 0.999998 SEL1L 6400 __UNKNOWN__ __UNKNOWN__ 14 81979661 81979661 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:81979661C>T ENST00000336735.4 - 4 457 SEL1L_ENST00000555824.1_Intron NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) NA NA Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) tttgttctttcgctcttcaca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9876.1, CCDS58333.1 14q31 2011-03-31 2001-11-28 ENSG00000071537 ENSG00000071537 6400 10717 protein-coding gene gene with protein product sel-1 suppressor of lin-12-like 1 (C. elegans) 602329 sel-1 (suppressor of lin-12, C.elegans)-like NA 9417916, 10051412, 16331677 Standard NM_005065 NM_005065 NA Approved IBD2, SEL1L1 uc010tvv.2 Q9UBV2 ENST00000336735.4:c.341-7076G>A chr14.hg19:g.81979661C>T NA Q6UWT6|Q9P1T9|Q9UHK7 hg19 CCDS9876.1 0.02 -0.077937 TTTxGCT UNCOVERED NOVEL SEL1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413325.1 2 2.406842 KEEP 0 0 0 8 248 CC 0.99257 0.076761 0 - 3 60 83 0 0 7.266449 6 60 155 19 ENST00000336735.4 0.333333 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 86403793 86403793 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:86403793T>C NA NA FLRT2 (308759 upstream) : CTD-2341M24.1 (46496 downstream) NA NA NA cggtggctcatgcctgtaatc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.86403793T>C NA hg19 0.02 -0.420833 TCAxGCC COVERED NOVEL 0 8 2.707926 KEEP 0 0 0 9 272 TT 0.99254 0.941327 0 3 60 99 0 1 6.578523 41 60 1194 81 0.068182 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 88073068 88073068 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:88073068C>G NA NA RP11-594C13.1 (33702 upstream) : CTD-2007A10.1 (27654 downstream) NA NA NA gtcacctcttcaatgctttgc 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.88073068C>G NA hg19 0.02 -0.166675 CTTxAAT COVERED NOVEL 0 0 3.912912 KEEP 1 0 0 13 471 CC 0.993634 0.351693 0 3 54 98 0 0 7.633227 16 60 539 51 0.157895 0.353947 SPATA7 55812 __UNKNOWN__ __UNKNOWN__ 14 88897644 88897644 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:88897644G>C ENST00000393545.4 + 9 1371 SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000356583.5_Intron|SPATA7_ENST00000556553.1_Intron NM_018418.4 NP_060888.2 Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 NA NA response to stimulus (GO:0050896)|visual perception (GO:0007601) cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 TATTAAATAAGTCAGGATTGA 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 69 58 61 NA NA NA 14 NA NA 88897644 692 1590 2282 SO:0001627 intron_variant AF144487 CCDS9883.1, CCDS32132.1 14q31.3 2011-02-17 ENSG00000042317 55812 20423 protein-coding gene gene with protein product 609868 Leber congenital amaurosis 3 LCA3 NA 9799089, 19268277 Standard NM_018418 NA Approved HSD3 uc001xwq.3 Q9P0W8 ENST00000393545.4:c.1082+75G>C chr14.hg19:g.88897644G>C NA Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7 hg19 CCDS9883.1 0.02 -0.21033 TAAxTCA COVERED NOVEL SPATA7-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000410172.1 1 4.514316 KEEP 0 0 0 15 519 GG 0.99649 0.520328 0 + 6 60 194 0 0 16.533351 17 60 542 44 ENST00000393545.4 0.26087 0.522161 ZC3H14 79882 __UNKNOWN__ __UNKNOWN__ 14 89044182 89044182 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:89044182A>G ENST00000555755.1 + 9 1219 ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000557605.1_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000359301.3_Intron Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 NA NA cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 caaagtgctgagattacaggc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF155107 CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1 14q31.3 2014-08-12 ENSG00000100722 ENSG00000100722 79882 Zinc fingers, CCCH-type domain containing 20509 protein-coding gene gene with protein product 613279 NA 10508479 Standard NM_024824 NM_024824 NA Approved FLJ11806, UKp68, NY-REN-37 uc001xww.3 Q6PJT7 OTTHUMG00000170803 ENST00000555755.1:c.1124-147A>G chr14.hg19:g.89044182A>G NA A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0 hg19 CCDS55938.1 0.02 -0.183992 CTGxGAT COVERED NOVEL ZC3H14-007 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000410397.1 6 2.406904 KEEP 0 0 0 8 250 AA 0.99257 0.420331 0 + 3 40 102 0 0 8.111988 15 60 432 39 ENST00000555755.1 0.166667 0.423478 EML5 161436 __UNKNOWN__ __UNKNOWN__ 14 89205430 89205430 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:89205430C>G ENST00000554922.1 - 6 960 EML5_ENST00000352093.5_Intron|EML5_ENST00000380664.5_Intron NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874) catalytic activity (GO:0003824) breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGTAGAAACCCTTTTAAACCA 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY357725 CCDS45148.1 14q31.3 2013-01-10 ENSG00000165521 161436 WD repeat domain containing 18197 protein-coding gene gene with protein product NA Standard NM_183387 NA Approved HuEMAP-2, EMAP-2 uc021ryf.1 Q05BV3 ENST00000554922.1:c.712-72G>C chr14.hg19:g.89205430C>G NA B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03 hg19 CCDS45148.1 0.02 -0.11404 ACCxTTT UNCOVERED NOVEL EML5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410488.2 1 2.708515 KEEP 0 0 0 9 314 CC 0.99254 0.161255 0 - 10 60 328 0 0 34.519277 3 60 107 27 ENST00000554922.1 0.769231 0.162467 TTC8 123016 __UNKNOWN__ __UNKNOWN__ 14 89322162 89322162 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:89322162T>C ENST00000345383.5 + 8 764 TTC8_ENST00000346301.4_Intron|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000358622.5_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000380656.2_Intron|TTC8_ENST00000338104.6_Intron NM_198309.2 NP_938051.1 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 NA NA axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893) BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886) RNA polymerase II repressing transcription factor binding (GO:0001103) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 cggtggctcatgcctgtaatc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093891 CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1 14q31.3 2013-02-14 ENSG00000165533 123016 Tetratricopeptide (TTC) repeat domain containing 20087 protein-coding gene gene with protein product 608132 NA 14520415, 20451172 Standard NM_144596 NM_144596 NA Approved BBS8, RP51 uc001xxi.3 Q8TAM2 ENST00000345383.5:c.681-1372T>C chr14.hg19:g.89322162T>C NA A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8 hg19 CCDS9885.1 0.02 -0.157872 TCAxGCC COVERED NOVEL TTC8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410861.1 8 2.406968 KEEP 2 0 0 8 243 TT 0.99257 0.320408 0 + 3 60 102 0 1 8.278873 13 60 381 42 ENST00000345383.5 0.1875 0.322807 EFCAB11 90141 __UNKNOWN__ __UNKNOWN__ 14 90416185 90416185 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:90416185G>A ENST00000316738.7 - 3 246 EFCAB11_ENST00000555872.1_Intron|EFCAB11_ENST00000556005.1_Intron|EFCAB11_ENST00000556609.1_Intron|EFCAB11_ENST00000538485.2_Intron|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000267544.9_Intron NM_001284267.1|NM_145231.3 NP_001271196.1|NP_660274.1 Q9BUY7 EFC11_HUMAN EF-hand calcium binding domain 11 NA NA calcium ion binding (GO:0005509) large_intestine(1)|lung(1) 2 agcaagtcacgtcttacatgg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094740 CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1 14q32.11 2013-01-10 2011-01-31 2011-01-31 ENSG00000140025 ENSG00000140025 90141 EF-hand domain containing 20357 protein-coding gene gene with protein product chromosome 14 open reading frame 143 C14orf143 NA Standard NM_145231 NM_145231 NA Approved uc001xxt.3 Q9BUY7 OTTHUMG00000148671 ENST00000316738.7:c.217+255C>T chr14.hg19:g.90416185G>A NA B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1 hg19 CCDS9887.1 0.02 -0.271917 CACxTCT COVERED NOVEL EFCAB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309022.2 5 2.407428 KEEP 1 0 0 8 271 GG 0.99257 0.711986 0 - 4 60 123 0 0 9.291501 23 60 742 61 ENST00000316738.7 0.148148 0.717315 NRDE2 55051 __UNKNOWN__ __UNKNOWN__ 14 90775324 90775324 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:90775324T>C ENST00000354366.3 - 4 790 NRDE2_ENST00000357904.3_Intron NM_017970.3 NP_060440.2 Q9H7Z3 NRDE2_HUMAN NRDE-2, necessary for RNA interference, domain containing NA NA NA tggtggctcatgcctgtaatc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000870 CCDS9890.1 14q32.11 2012-12-14 2012-09-25 2012-09-25 ENSG00000119720 ENSG00000119720 55051 20186 protein-coding gene gene with protein product chromosome 14 open reading frame 102 C14orf102 NA Standard NM_017970 NM_017970 NA Approved FLJ14051 uc001xyi.2 Q9H7Z3 OTTHUMG00000171020 ENST00000354366.3:c.557+3413A>G chr14.hg19:g.90775324T>C NA B4DH71|Q4G0A7|Q9NWH6 hg19 CCDS9890.1 0.02 -0.37707 TCAxGCC COVERED NOVEL NRDE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411264.1 9 3.912154 KEEP 1 0 0 13 415 TT 0.993634 0.903281 0 - 3 60 99 0 0 6.706735 37 60 1050 78 ENST00000354366.3 0.075 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 90841749 90841749 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:90841749G>C NA NA NRDE2 (43268 upstream) : AL512791.1 (5792 downstream) NA NA NA aaactcttgagctcaagtgat 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.90841749G>C NA hg19 0.02 -0.210501 TGAxCTC COVERED NOVEL 0 5 2.707137 KEEP 0 0 0 9 309 GG 0.99254 0.518266 0 3 60 93 0 0 6.927588 19 60 632 38 0.136364 0.522161 C14orf159 80017 __UNKNOWN__ __UNKNOWN__ 14 91667923 91667923 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:91667923A>G ENST00000523771.1 + 11 2032 C14orf159_ENST00000256324.10_Intron|C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000412671.2_Intron|C14orf159_ENST00000428926.2_Intron|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000518868.1_Intron|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000522322.1_Intron|C14orf159_ENST00000523816.1_Intron Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 NA NA mitochondrion (GO:0005739) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) ttacaggtgtaagccaccatg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097294 CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1 14q32.11 2012-09-26 ENSG00000133943 ENSG00000133943 80017 20498 protein-coding gene gene with protein product NA Standard NM_024952 NM_001102367 NA Approved FLJ39975 uc001xze.2 Q7Z3D6 OTTHUMG00000164980 ENST00000523771.1:c.1429+1674A>G chr14.hg19:g.91667923A>G NA B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6 hg19 CCDS32141.1 0.02 -0.280539 TGTxAGC COVERED NOVEL C14orf159-014 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381273.1 5 2.707846 KEEP 0 0 0 9 272 AA 0.99254 0.734154 0 + 3 60 104 0 0 7.794723 23 60 634 65 ENST00000523771.1 0.115385 0.739671 SMEK1 55671 __UNKNOWN__ __UNKNOWN__ 14 91929043 91929043 __UNKNOWN__ Intron SNP T T A rs115038412 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:91929043T>A ENST00000554684.1 - 12 2431 SMEK1_ENST00000337238.4_Intron|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Intron|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000555718.1_Intron NM_001284280.1 NP_001271209.1 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) NA NA positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289) NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) TACGACTTGATGCTGAACGAA 0.333 NA T||| 27 0.00539137 0.0197 0.0014 5008 , , NA 17488 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 T 89,4317 74.1+/-112.3 1,87,2115 170 170 170 NA -5.1 0 14 dbSNP_132 170 0,8596 0,0,4298 no intron SMEK1 NM_032560.4 1,87,6413 AA,AT,TT NA 0.0,2.02,0.6845 91929043 89,12913 2203 4298 6501 SO:0001627 intron_variant AK000714 CCDS9895.1, CCDS61532.1 14q32.12 2008-09-15 2006-10-12 2006-10-12 ENSG00000100796 55671 20219 protein-coding gene gene with protein product 610351 KIAA2010 KIAA2010 NA 16085932, 18487071 Standard NM_032560 XM_005267842 NA Approved FLJ20707, MSTP033, FLFL1, smk-1, smk1 uc001xzm.3 Q6IN85 ENST00000554684.1:c.1934+35A>T chr14.hg19:g.91929043T>A NA Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1 hg19 CCDS9895.1 0.02 1.392378 TGAxGCT COVERED NOVEL SMEK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411664.1 0 6.619876 KEEP 0 0 0 22 684 TT 0.999879 0.981836 0 - 5 60 144 0 0 9.43856 52 60 1483 109 ENST00000554684.1 0.087719 0.981955 SMEK1 55671 __UNKNOWN__ __UNKNOWN__ 14 91958320 91958320 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:91958320C>T ENST00000554684.1 - 2 639 SMEK1_ENST00000337238.4_Intron|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Intron|SMEK1_ENST00000555462.1_Intron NM_001284280.1 NP_001271209.1 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) NA NA positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289) NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) agtgctgggactacaggcatg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000714 CCDS9895.1, CCDS61532.1 14q32.12 2008-09-15 2006-10-12 2006-10-12 ENSG00000100796 55671 20219 protein-coding gene gene with protein product 610351 KIAA2010 KIAA2010 NA 16085932, 18487071 Standard NM_032560 XM_005267842 NA Approved FLJ20707, MSTP033, FLFL1, smk-1, smk1 uc001xzm.3 Q6IN85 ENST00000554684.1:c.143-1174G>A chr14.hg19:g.91958320C>T NA Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1 hg19 CCDS9895.1 0.02 -0.289485 GGAxTAC COVERED NOVEL SMEK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411664.1 5 2.708361 KEEP 0 0 0 9 306 CC 0.99254 0.755211 0 - 4 60 112 0 0 7.877134 28 60 972 60 ENST00000554684.1 0.125 0.760887 TRIP11 9321 __UNKNOWN__ __UNKNOWN__ 14 92475647 92475647 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:92475647A>G ENST00000267622.4 - 10 1688 NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 NA NA protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281) acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) caaagtgctgagattacagcg 0.473 NA T PDGFRB AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(84;609 1888 9852 42686) Dom yes 14 14q31-q32 9321 thyroid hormone receptor interactor 11 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40380 CCDS9899.1 14q31-q32 2008-05-02 ENSG00000100815 9321 12305 protein-coding gene gene with protein product 604505 NA 7776974, 9373237 Standard NM_004239 NA Approved CEV14, Trip230, GMAP-210 uc001xzy.3 Q15643 ENST00000267622.4:c.1315-1451T>C chr14.hg19:g.92475647A>G NA B2RUT2|O14689|O15154|O95949 hg19 CCDS9899.1 0.02 -0.280648 CTGxGAT COVERED NOVEL TRIP11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411823.1 9 2.708132 KEEP 0 0 0 9 280 AA 0.99254 0.734154 0 - 5 60 157 0 0 12.140426 26 60 770 54 ENST00000267622.4 0.16129 0.739671 TRIP11 9321 __UNKNOWN__ __UNKNOWN__ 14 92502196 92502196 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:92502196G>T ENST00000267622.4 - 2 513 TRIP11_ENST00000555105.1_Intron NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 NA NA protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281) acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) gctcccaaagggctgggatta 0.478 NA T PDGFRB AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(84;609 1888 9852 42686) Dom yes 14 14q31-q32 9321 thyroid hormone receptor interactor 11 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40380 CCDS9899.1 14q31-q32 2008-05-02 ENSG00000100815 9321 12305 protein-coding gene gene with protein product 604505 NA 7776974, 9373237 Standard NM_004239 NA Approved CEV14, Trip230, GMAP-210 uc001xzy.3 Q15643 ENST00000267622.4:c.140-2599C>A chr14.hg19:g.92502196G>T NA B2RUT2|O14689|O15154|O95949 hg19 CCDS9899.1 0.02 -0.254393 AAGxGCT COVERED NOVEL TRIP11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411823.1 6 2.989504 KEEP 0 0 0 10 328 GG 0.992708 0.663648 0 - 4 60 116 0 0 8.523964 24 60 815 58 ENST00000267622.4 0.142857 0.668523 ATXN3 4287 __UNKNOWN__ __UNKNOWN__ 14 92528351 92528351 __UNKNOWN__ 3'UTR SNP A A G rs530768711 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:92528351A>G ENST00000393287.5 - 0 3456 ATXN3_ENST00000545170.1_3'UTR|ATXN3_ENST00000429774.2_3'UTR P54252 ATX3_HUMAN ataxin 3 NA NA actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) tgtaatcccaacactttggga 0.502 NA a||| 1 0.000199681 0 0 5008 , , NA 17957 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA Esophageal Squamous(190;752 2094 29897 44875 49530) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U64820 CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1 14q21 2014-09-17 2004-08-12 2004-08-13 ENSG00000066427 ENSG00000066427 4287 Ataxins 7106 protein-coding gene gene with protein product 607047 Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) SCA3, MJD NA 8358439 Standard NM_004993 NM_004993 NA Approved ATX3, JOS uc001yac.4 P54252 OTTHUMG00000162212 ENST00000393287.5:c.*2313T>C chr14.hg19:g.92528351A>G NA A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0 hg19 CCDS9900.1 0.02 1.900831 CCAxCAC COVERED NOVEL ATXN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367922.3 5 4.805342 KEEP 3 0 0 16 442 AA 0.99649 0.991591 0 - 4 60 144 0 0 10.085793 51 60 1394 103 ENST00000393287.5 0.072727 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 92582369 92582369 __UNKNOWN__ IGR SNP T T C rs543560546 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:92582369T>C NA NA ATXN3 (9404 upstream) : NDUFB1 (96 downstream) NA NA NA tcccaaagtgttgggattaca 0.448 NA T||| 29 0.00579073 0.0197 0.0014 5008 , , NA 13596 0.002 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.92582369T>C NA hg19 0.02 1.637756 GTGxTGG COVERED NOVEL 0 6 3.878675 KEEP 0 2 66 36 1092 TT 1 0.999956 0 4 60 137 0 0 8.547171 84 60 2323 175 0.045455 0.999956 NDUFB1 4707 __UNKNOWN__ __UNKNOWN__ 14 92586869 92586869 __UNKNOWN__ Intron SNP T T C rs1950813 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:92586869T>C ENST00000555441.1 - 1 209 NDUFB1_ENST00000556555.1_Intron|NDUFB1_ENST00000605997.1_Intron|NDUFB1_ENST00000329559.3_Intron|NDUFB1_ENST00000553514.1_Intron O75438 NDUB1_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) large_intestine(1)|lung(1) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.205) taattttgtatttttggtaga 0.532 NA T||| 2698 0.538738 0.5477 0.379 5008 , , NA 15300 0.8552 NA 0.334 False NA ,,, NA NA NA 2504 0.5245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC104672 CCDS9901.1 14q31.3 2011-07-04 2002-08-29 ENSG00000183648 ENSG00000183648 4707 Mitochondrial respiratory chain complex / Complex I 7695 protein-coding gene gene with protein product complex I MNLL subunit 603837 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL) NA 9763677 Standard NM_004545 NM_004545 NA Approved MNLL, CI-MNLL uc001yaf.3 O75438 ENST00000555441.1:c.4+670A>G chr14.hg19:g.92586869T>C NA A0AV68 hg19 0.02 -0.149097 GTAxTTT COVERED NOVEL NDUFB1-006 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000412121.1 4 2.406789 KEEP 0 0 0 8 244 TT 0.99257 0.289832 0 - 9 60 303 0 0 29.489417 8 60 226 35 ENST00000555441.1 0.529412 0.292001 NDUFB1 4707 __UNKNOWN__ __UNKNOWN__ 14 92586969 92586969 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:92586969C>T ENST00000555441.1 - 1 209 NDUFB1_ENST00000556555.1_Intron|NDUFB1_ENST00000605997.1_Intron|NDUFB1_ENST00000329559.3_Intron|NDUFB1_ENST00000553514.1_Intron O75438 NDUB1_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) large_intestine(1)|lung(1) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.205) gctgggattacaggcgtgagc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC104672 CCDS9901.1 14q31.3 2011-07-04 2002-08-29 ENSG00000183648 ENSG00000183648 4707 Mitochondrial respiratory chain complex / Complex I 7695 protein-coding gene gene with protein product complex I MNLL subunit 603837 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL) NA 9763677 Standard NM_004545 NM_004545 NA Approved MNLL, CI-MNLL uc001yaf.3 O75438 ENST00000555441.1:c.4+570G>A chr14.hg19:g.92586969C>T NA A0AV68 hg19 0.02 -0.412289 TTAxAGG COVERED NOVEL NDUFB1-006 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000412121.1 18 3.912655 KEEP 3 0 0 13 459 CC 0.993634 0.935746 0 - 4 60 115 0 0 7.721338 37 60 1254 88 ENST00000555441.1 0.097561 0.941741 NDUFB1 4707 __UNKNOWN__ __UNKNOWN__ 14 92586975 92586975 __UNKNOWN__ Intron SNP T T A rs11621262 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:92586975T>A ENST00000555441.1 - 1 209 NDUFB1_ENST00000556555.1_Intron|NDUFB1_ENST00000605997.1_Intron|NDUFB1_ENST00000329559.3_Intron|NDUFB1_ENST00000553514.1_Intron O75438 NDUB1_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) large_intestine(1)|lung(1) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.205) attacaggcgtgagccaccgc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC104672 CCDS9901.1 14q31.3 2011-07-04 2002-08-29 ENSG00000183648 ENSG00000183648 4707 Mitochondrial respiratory chain complex / Complex I 7695 protein-coding gene gene with protein product complex I MNLL subunit 603837 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL) NA 9763677 Standard NM_004545 NM_004545 NA Approved MNLL, CI-MNLL uc001yaf.3 O75438 ENST00000555441.1:c.4+564A>T chr14.hg19:g.92586975T>A NA A0AV68 hg19 0.02 -0.429674 GCGxGAG COVERED NOVEL NDUFB1-006 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000412121.1 19 4.21008 KEEP 3 0 0 14 411 TT 0.994391 0.949137 0 - 6 60 171 0 0 12.769506 32 60 919 92 ENST00000555441.1 0.157895 0.954491 SLC24A4 123041 __UNKNOWN__ __UNKNOWN__ 14 92913654 92913654 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:92913654T>A ENST00000531433.1 + 10 779 SLC24A4_ENST00000298877.1_Intron|SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000532405.1_Intron|SLC24A4_ENST00000351924.5_Intron NM_153647.3 NP_705933.2 Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 NA NA amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293) breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GACCCCTCATTCCCAGCCTTC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(10;315 435 10383 28450 38798) NA 0 133 115 120 NA NA NA 14 NA NA 92913654 692 1591 2283 SO:0001627 intron_variant AF520704 CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2 14q32.12 2013-05-22 ENSG00000140090 ENSG00000140090 123041 Solute carriers 10978 protein-coding gene gene with protein product 609840 NA Standard NM_153646 NM_153646 NA Approved NCKX4 uc001yak.3 Q8NFF2 OTTHUMG00000167589 ENST00000531433.1:c.684-61T>A chr14.hg19:g.92913654T>A NA B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1 hg19 CCDS45155.2 0.02 -0.438322 CATxCCC COVERED NOVEL SLC24A4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395239.1 0 4.813625 KEEP 0 0 0 16 471 TT 0.997832 0.957778 0 + 11 60 310 0 0 24.812539 39 60 1045 88 ENST00000531433.1 0.22 0.959859 RIN3 79890 __UNKNOWN__ __UNKNOWN__ 14 93154510 93154510 __UNKNOWN__ Silent SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:93154510C>T ENST00000216487.7 + 10 3030 c.2871C>T c.(2869-2871)caC>caT p.H957H RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 957 Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}. NA endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165) cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769) GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GCGACTTCCACTTTGTCTACC 0.726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 13 16 15 NA NA NA 14 NA NA 93154510 2186 4257 6443 SO:0001819 synonymous_variant BC025248 CCDS32144.1 14q32.13 2008-08-29 ENSG00000100599 79890 18751 protein-coding gene gene with protein product 610223 NA 11733506 Standard NM_024832 NA Approved FLJ22439 uc001yap.3 Q8TB24 ENST00000216487.7:c.2871C>T chr14.hg19:g.93154510C>T NA Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1 hg19 CCDS32144.1 0.02 11.260203 CCAxTTT COVERED NOVEL RIN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412269.1 4 44.845223 KEEP 0 0 0 149 5382 CC 1 1 0 + 43 60 1243 0 0 83.80435 395 70 13628 847 ENST00000216487.7 0.098174 1 ITPK1 3705 __UNKNOWN__ __UNKNOWN__ 14 93404373 93404373 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:93404373T>C ENST00000267615.6 - 0 4951 ITPK1_ENST00000354313.3_3'UTR Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase NA NA blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287) endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) ggtgcgatcttggctcactgc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U51336 CCDS9907.1, CCDS45157.1 14q32.12 2012-08-16 2011-04-28 ENSG00000100605 ENSG00000100605 3705 2.7.1.134 6177 protein-coding gene gene with protein product 601838 inositol 1,3,4-triphosphate 5/6 kinase NA 8662638, 11042108 Standard NM_014216 NM_014216 NA Approved uc001ybh.3 Q13572 OTTHUMG00000171226 ENST00000267615.6:c.*3533A>G chr14.hg19:g.93404373T>C NA Q9BTL6|Q9H2E7 hg19 CCDS9907.1 0.02 1.584462 TCTxGGC COVERED NOVEL ITPK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412421.2 5 4.512475 KEEP 1 0 0 15 459 TT 0.995343 0.991593 0 - 5 60 157 0 0 10.693577 53 60 1552 99 ENST00000267615.6 0.086207 0.996233 ITPK1 3705 __UNKNOWN__ __UNKNOWN__ 14 93404576 93404576 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:93404576G>T ENST00000267615.6 - 0 4748 ITPK1_ENST00000354313.3_3'UTR Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase NA NA blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287) endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) gtgctgggatgacaggcgtga 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U51336 CCDS9907.1, CCDS45157.1 14q32.12 2012-08-16 2011-04-28 ENSG00000100605 ENSG00000100605 3705 2.7.1.134 6177 protein-coding gene gene with protein product 601838 inositol 1,3,4-triphosphate 5/6 kinase NA 8662638, 11042108 Standard NM_014216 NM_014216 NA Approved uc001ybh.3 Q13572 OTTHUMG00000171226 ENST00000267615.6:c.*3330C>A chr14.hg19:g.93404576G>T NA Q9BTL6|Q9H2E7 hg19 CCDS9907.1 0.02 4.626634 GATxACA COVERED NOVEL ITPK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412421.2 25 8.013177 KEEP 0 3 89 58 2008 GG 1 1 0 - 8 60 222 1 1 11.900051 169 60 5646 376 ENST00000267615.6 0.045198 1 TMEM251 26175 __UNKNOWN__ __UNKNOWN__ 14 93652495 93652495 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:93652495C>T ENST00000283534.4 + 2 82 RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000415050.2_Intron|RP11-371E8.4_ENST00000557574.1_Intron NM_015676.1 NP_056491.1 Q8N6I4 TM251_HUMAN transmembrane protein 251 NA NA integral component of membrane (GO:0016021) NA attacaggcgcgagccaccgc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41980.1, CCDS45158.1 14q32.12 2012-07-18 2012-07-18 2012-07-18 ENSG00000153485 ENSG00000153485 26175 20218 protein-coding gene gene with protein product chromosome 14 open reading frame 109 C14orf109 NA Standard NM_015676 NA Approved DKFZP564F1123 uc010auo.3 Q8N6I4 OTTHUMG00000171265 ENST00000283534.4:c.-16-110C>T chr14.hg19:g.93652495C>T NA J3KQ65|Q9Y4S5 hg19 CCDS41980.1 0.02 9.168686 GCGxGAG COVERED NOVEL TMEM251-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412686.1 52 37.529337 KEEP 1 6 183 189 6753 CC 1 1 0 + 11 60 319 0 0 17.021178 271 60 9095 735 ENST00000283534.4 0.039007 1 UBR7 55148 __UNKNOWN__ __UNKNOWN__ 14 93677642 93677642 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:93677642T>C ENST00000013070.6 + 3 581 UBR7_ENST00000416753.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) NA NA ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 cctgtaatcctagcactttgg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001345 CCDS9909.1 14q32.12 2008-06-23 2008-06-23 2008-06-23 ENSG00000012963 55148 Ubiquitin protein ligase E3 component n-recognins 20344 protein-coding gene gene with protein product 613816 chromosome 14 open reading frame 130 C14orf130 NA 18162545 Standard NM_175748 NM_175748 NA Approved uc001ybm.4 Q8N806 ENST00000013070.6:c.345+588T>C chr14.hg19:g.93677642T>C NA Q86U21|Q86UA9|Q96BY0|Q9NVV6 hg19 CCDS9909.1 0.02 -0.359561 TCCxAGC COVERED NOVEL UBR7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412693.1 7 3.309821 KEEP 2 0 0 11 343 TT 0.992708 0.882393 0 + 4 60 130 0 0 9.407315 33 60 960 77 ENST00000013070.6 0.108108 0.888875 UBR7 55148 __UNKNOWN__ __UNKNOWN__ 14 93685167 93685167 __UNKNOWN__ Intron SNP T T C rs113599144 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:93685167T>C ENST00000013070.6 + 7 1046 UBR7_ENST00000416753.1_Intron NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) NA NA ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 tttgggaggctgaggtggcgg 0.512 NA T||| 567 0.113219 0.1437 0.1196 5008 , , NA 18877 0.1002 NA 0.0805 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001345 CCDS9909.1 14q32.12 2008-06-23 2008-06-23 2008-06-23 ENSG00000012963 55148 Ubiquitin protein ligase E3 component n-recognins 20344 protein-coding gene gene with protein product 613816 chromosome 14 open reading frame 130 C14orf130 NA 18162545 Standard NM_175748 NM_175748 NA Approved uc001ybm.4 Q8N806 ENST00000013070.6:c.810+86T>C chr14.hg19:g.93685167T>C NA Q86U21|Q86UA9|Q96BY0|Q9NVV6 hg19 CCDS9909.1 0.02 -0.42975 GGCxGAG COVERED NOVEL UBR7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412693.1 12 5.717044 KEEP 0 0 0 19 588 TT 0.99986 0.954357 0 + 4 60 137 1 0 9.74868 41 60 1218 78 ENST00000013070.6 0.088889 0.954491 SERPINA1 5265 __UNKNOWN__ __UNKNOWN__ 14 94844385 94844385 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:94844385A>T ENST00000448921.1 - 0 2230 SERPINA1_ENST00000437397.1_3'UTR|SERPINA1_ENST00000355814.4_3'UTR|SERPINA1_ENST00000440909.1_3'UTR NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 NA NA acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162) endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578) glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GTGGGGGATGAGCAGGGGGAC 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X01683 CCDS9925.1 14q32.1 2014-02-18 2005-08-18 ENSG00000197249 ENSG00000197249 5265 Serine (or cysteine) peptidase inhibitors 8941 protein-coding gene gene with protein product protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin 107400 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 PI NA 24172014 Standard NM_001002235 NM_000295 NA Approved AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT uc010aux.3 P01009 OTTHUMG00000150355 ENST00000448921.1:c.*401T>A chr14.hg19:g.94844385A>T NA A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3 hg19 CCDS9925.1 0.02 1.421154 ATGxGCA COVERED NOVEL SERPINA1-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317768.2 0 7.521751 KEEP 0 0 0 25 773 AA 0.999931 0.993634 0 - 22 60 625 0 0 55.108649 42 60 1202 111 ENST00000448921.1 0.34375 0.993703 SERPINA5 5104 __UNKNOWN__ __UNKNOWN__ 14 95054273 95054273 __UNKNOWN__ Missense_Mutation SNP G G A rs367832464 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:95054273G>A ENST00000554866.1 + 2 688 c.574G>A c.(574-576)Gat>Aat p.D192N SERPINA5_ENST00000329597.7_Missense_Mutation_p.D192N|SERPINA5_ENST00000554276.1_Missense_Mutation_p.D192N|SERPINA5_ENST00000553780.1_Missense_Mutation_p.D192N P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 192 NA fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283) acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234) acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TAAGAACCTCGATAGCAATGC 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G ASN/ASP 1,4405 2.1+/-5.4 0,1,2202 149 135 140 NA 574 3.9 0 14 140 0,8600 0,0,4300 no missense SERPINA5 NM_000624.4 23 0,1,6502 AA,AG,GG NA 0.0,0.0227,0.0077 benign 192/407 95054273 1,13005 2203 4300 6503 SO:0001583 missense M68516 CCDS9928.1 14q32.1 2014-02-18 2005-08-18 ENSG00000188488 ENSG00000188488 5104 Serine (or cysteine) peptidase inhibitors 8723 protein-coding gene gene with protein product 601841 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 PLANH3, PCI NA 1714450, 8381582, 24172014 Standard NM_000624 NM_000624 NA Approved PAI3, PROCI uc001ydm.3 P05154 OTTHUMG00000170860 ENST00000554866.1:c.574G>A chr14.hg19:g.95054273G>A ENSP00000451126:p.Asp192Asn NA Q07616|Q9UG30 hg19 CCDS9928.1 0.02 0.977787 CTCxATA COVERED . . . . . . . . . . G 15.97 2.990439 0.54041 2.27E-4 0.0 ENSG00000188488 ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276 D;D;D;D;T;D 0.84730 -1.73;-1.89;-1.73;-1.73;-0.93;-1.73 3.89 3.89 0.44902 Serpin domain (3); 0.083877 0.48767 D 0.000168 T 0.80752 0.4683 L 0.48935 1.535 0.47621 D 0.999475 P;P 0.45126 0.851;0.749 B;B 0.39258 0.149;0.295 D 0.84334 0.0523 10 0.62326 D 0.03 . 15.399 0.74823 0.0:0.0:1.0:0.0 . 192;192 G3V5Q9;P05154 .;IPSP_HUMAN N 192;192;192;192;192;44;116;192 ENSP00000450837:D192N;ENSP00000452469:D192N;ENSP00000451126:D192N;ENSP00000333203:D192N;ENSP00000450745:D192N;ENSP00000451610:D192N ENSP00000333203:D192N D + 1 0 SERPINA5 94124026 1.000000 0.71417 0.023000 0.16930 0.165000 0.22458 5.030000 0.64128 2.180000 0.69256 0.561000 0.74099 GAT NOVEL SERPINA5-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410726.1 1 14.144595 KEEP 0 0 0 47 1580 GG 1 0.999895 0 + 5 60 144 0 0 8.364811 87 60 2766 187 ENST00000554866.1 0.054348 0.999895 SYNE3 161176 __UNKNOWN__ __UNKNOWN__ 14 95923398 95923398 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:95923398A>G ENST00000334258.5 - 4 804 SYNE3_ENST00000553340.1_Intron|SYNE3_ENST00000557275.1_Intron NM_152592.3 NP_689805.3 Q6ZMZ3 SYNE3_HUMAN spectrin repeat containing, nuclear envelope family member 3 NA NA cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993) actin filament binding (GO:0051015) breast(1)|endometrium(2)|lung(25) 28 ctccagcctgagcaacagagc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098471 CCDS9935.1 14q32.13 2012-05-31 2012-05-31 2012-05-31 ENSG00000176438 ENSG00000176438 161176 19861 protein-coding gene gene with protein product 610861 chromosome 14 open reading frame 49 C14orf49 NA Standard NM_152592 NM_152592 NA Approved FLJ25605, NET53, Nesprin-3, Nesp3 uc001yei.4 Q6ZMZ3 OTTHUMG00000171632 ENST00000334258.5:c.789+115T>C chr14.hg19:g.95923398A>G NA A6H8H3|Q86SX5|Q8N7G8 hg19 CCDS9935.1 0.02 -0.429739 CTGxGCA COVERED NOVEL SYNE3-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000420529.2 6 5.115301 KEEP 1 0 0 17 553 AA 0.999366 0.953887 0 - 3 60 101 1 0 7.011658 34 60 1033 77 ENST00000334258.5 0.081081 0.954491 TCL1A 8115 __UNKNOWN__ __UNKNOWN__ 14 96179076 96179076 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:96179076T>C ENST00000402399.1 - 2 250 TCL1A_ENST00000556450.1_Intron|TCL1A_ENST00000554012.1_Intron|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Intron|RP11-164H13.1_ENST00000547644.2_RNA NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A NA NA multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827) cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120) haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) gccaggagtttaagaccagcc 0.458 NA T TRA@ T-CLL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(96;1068 2019 35393 39316) Dom yes 14 14q32.1 8115 T-cell leukemia/lymphoma 1A L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X82240 CCDS9941.1 14q32.1 2008-07-03 ENSG00000100721 8115 11648 protein-coding gene gene with protein product 186960 NA 2783489, 7809072 Standard NM_021966 NA Approved TCL1 uc001yfb.4 P56279 ENST00000402399.1:c.121-343A>G chr14.hg19:g.96179076T>C NA Q6IBK7 hg19 CCDS9941.1 0.02 3.447276 GTTxAAG COVERED NOVEL TCL1A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413246.1 15 6.050242 KEEP 0 1 37 33 947 TT 0.999998 0.999998 0 - 5 60 168 0 0 10.261517 110 60 2896 239 ENST00000402399.1 0.043478 1 TCL1A 8115 __UNKNOWN__ __UNKNOWN__ 14 96179077 96179077 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:96179077A>G ENST00000402399.1 - 2 250 TCL1A_ENST00000556450.1_Intron|TCL1A_ENST00000554012.1_Intron|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Intron|RP11-164H13.1_ENST00000547644.2_RNA NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A NA NA multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827) cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120) haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) ccaggagtttaagaccagcct 0.458 NA T TRA@ T-CLL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(96;1068 2019 35393 39316) Dom yes 14 14q32.1 8115 T-cell leukemia/lymphoma 1A L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X82240 CCDS9941.1 14q32.1 2008-07-03 ENSG00000100721 8115 11648 protein-coding gene gene with protein product 186960 NA 2783489, 7809072 Standard NM_021966 NA Approved TCL1 uc001yfb.4 P56279 ENST00000402399.1:c.121-344T>C chr14.hg19:g.96179077A>G NA Q6IBK7 hg19 CCDS9941.1 0.02 3.42944 TTTxAGA COVERED NOVEL TCL1A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413246.1 16 7.252863 KEEP 0 1 25 33 982 AA 0.999998 0.999998 0 - 6 60 199 0 0 12.470434 112 60 3132 240 ENST00000402399.1 0.050847 1 ATG2B 55102 __UNKNOWN__ __UNKNOWN__ 14 96781283 96781283 __UNKNOWN__ Intron SNP T T C rs149335622 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:96781283T>C ENST00000359933.4 - 23 4536 NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B NA NA autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804) extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407) breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ctgccttggcttcccaaagtg 0.493 NA C||| 132 0.0263578 0.0023 0.0029 5008 , , NA 16862 0.0526 NA 0 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001104 CCDS9944.2 14q32.31 2014-02-12 2012-06-06 2007-07-31 ENSG00000066739 ENSG00000066739 55102 20187 protein-coding gene gene with protein product chromosome 14 open reading frame 103, ATG2 autophagy related 2 homolog B (S. cerevisiae) C14orf103 NA 22350415 Standard NM_018036 NM_018036 NA Approved FLJ10242 uc001yfi.3 Q96BY7 OTTHUMG00000149933 ENST00000359933.4:c.3642+207A>G chr14.hg19:g.96781283T>C NA Q6ZRE7|Q96DQ3|Q9NW80 hg19 CCDS9944.2 0.02 -0.228001 GGCxTCC COVERED NOVEL ATG2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314037.1 6 2.708384 KEEP 0 0 0 9 288 TT 0.99254 0.578582 0 - 4 60 120 0 0 9.470026 17 60 488 49 ENST00000359933.4 0.190476 0.58293 AK7 122481 __UNKNOWN__ __UNKNOWN__ 14 96922542 96922542 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:96922542A>C ENST00000267584.4 + 11 1142 NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 NA NA axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634) adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ccactgcactacagcccgagc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057426 CCDS9945.1 14q32.31 2012-08-15 ENSG00000140057 ENSG00000140057 122481 Adenylate kinases 20091 protein-coding gene gene with protein product 615364 NA Standard NM_152327 NA Approved FLJ32864 uc001yfn.3 Q96M32 OTTHUMG00000171421 ENST00000267584.4:c.1099-142A>C chr14.hg19:g.96922542A>C NA Q8IYP6 hg19 CCDS9945.1 0.02 -0.350733 ACTxCAG COVERED NOVEL AK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413340.1 5 3.893962 KEEP 0 0 0 13 360 AA 0.994391 0.872784 0 + 5 60 159 0 0 12.265177 27 60 735 54 ENST00000267584.4 0.15625 0.877708 WARS 7453 __UNKNOWN__ __UNKNOWN__ 14 100824691 100824691 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:100824691A>G ENST00000355338.2 - 4 1041 WARS_ENST00000392882.2_Intron|WARS_ENST00000557135.1_Intron|WARS_ENST00000358655.4_Intron|WARS_ENST00000554084.1_Intron|WARS_ENST00000556645.1_Intron|WARS_ENST00000344102.5_Intron NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase NA NA angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830) breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) ggatggtctcaatctcctgac 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M61715 CCDS9960.1, CCDS9961.1 14q32.2 2014-03-19 ENSG00000140105 ENSG00000140105 7453 6.1.1.2 Aminoacyl tRNA synthetases / Class I 12729 protein-coding gene gene with protein product tryptophan tRNA ligase 1, cytoplasmic 191050 IFI53 NA 1537332, 1763065 Standard NM_004184 NM_004184 NA Approved IFP53 uc001yhl.1 P23381 OTTHUMG00000171572 ENST00000355338.2:c.422+2199T>C chr14.hg19:g.100824691A>G NA A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3 hg19 CCDS9960.1 0.02 -0.166631 CTCxATC UNCOVERED NOVEL WARS-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414236.1 6 2.407332 KEEP 7 0 0 8 252 AA 0 0 0 - 3 60 101 0 0 7.933414 16 60 468 41 ENST00000355338.2 0.157895 0.353947 DYNC1H1 1778 __UNKNOWN__ __UNKNOWN__ 14 102494581 102494581 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:102494581A>G ENST00000360184.4 + 48 9632 NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810) centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 aggtgcagtgactcatgcctg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002323 CCDS9966.1 14q32.31 2006-12-21 2005-11-24 2005-11-24 ENSG00000197102 1778 Cytoplasmic dyneins 2961 protein-coding gene gene with protein product 600112 dynein, cytoplasmic, heavy polypeptide 1 DNECL, DNCL, DNCH1 NA 16260502, 8666668 Standard NM_001376 NM_001376 NA Approved Dnchc1, HL-3, p22, DHC1 uc001yks.2 Q14204 ENST00000360184.4:c.9468+103A>G chr14.hg19:g.102494581A>G NA B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5 hg19 CCDS9966.1 0.02 -0.254319 GTGxCTC COVERED NOVEL DYNC1H1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414574.1 6 3.008316 KEEP 0 0 0 10 294 AA 0.992708 0.663648 0 + 3 60 101 0 0 7.39261 25 60 716 47 ENST00000360184.4 0.107143 0.668523 WDR20 91833 __UNKNOWN__ __UNKNOWN__ 14 102664647 102664647 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:102664647A>G ENST00000342702.3 + 2 463 WDR20_ENST00000558567.1_Missense_Mutation_p.D147G|WDR20_ENST00000335263.5_Intron|WDR20_ENST00000545563.1_Intron|WDR20_ENST00000499851.2_Intron|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_Intron|WDR20_ENST00000556511.2_Intron|WDR20_ENST00000556807.1_Intron|WDR20_ENST00000424963.2_Intron|WDR20_ENST00000454394.2_Intron NM_001242418.1|NM_144574.3 NP_001229347.1|NP_653175.2 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 NA NA breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 tagagacgggatttcaccatg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028387 CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1 14q32.31 2013-01-09 ENSG00000140153 91833 WD repeat domain containing 19667 protein-coding gene gene with protein product NA Standard NM_181291 NM_181291 NA Approved DMR, MGC33177, FLJ33659 uc010txu.2 Q8TBZ3 ENST00000342702.3:c.432+3190A>G chr14.hg19:g.102664647A>G NA B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86 hg19 CCDS9969.1 0.02 -0.23683 GGGxTTT COVERED NOVEL WDR20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414963.1 2 3.947249 KEEP 0 1 37 26 822 AA 0.999988 0.641339 0 + 3 60 103 0 0 7.805324 21 60 645 58 ENST00000342702.3 0.125 0.641347 TRAF3 7187 __UNKNOWN__ __UNKNOWN__ 14 103259410 103259410 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:103259410A>G ENST00000560371.1 + 1 200 TRAF3_ENST00000539721.1_Intron|TRAF3_ENST00000392745.2_Intron|TRAF3_ENST00000347662.4_Intron NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 NA NA apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209) CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739) ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) gcctcccaaaatgctgggatt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U21092 CCDS9975.1, CCDS9976.1, CCDS55946.1 14q32.32 2014-09-17 ENSG00000131323 7187 12033 protein-coding gene gene with protein product 601896 NA 7530216, 7859281 Standard NM_145725 NM_145725 NA Approved CAP-1, CD40bp, CRAF1, LAP1 uc001ymd.2 Q13114 ENST00000560371.1:c.-18+15398A>G chr14.hg19:g.103259410A>G NA B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1 hg19 CCDS9975.1 0.02 -0.061402 AAAxTGC UNCOVERED NOVEL TRAF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415735.1 3 3.008958 KEEP 0 0 0 10 314 AA 0.992708 0.043467 0 + 3 60 106 0 0 9.955537 4 60 119 24 ENST00000560371.1 0.428571 0.043787 CDC42BPB 9578 __UNKNOWN__ __UNKNOWN__ 14 103417046 103417046 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:103417046G>T ENST00000361246.2 - 25 3461 NM_006035.3 NP_006026.3 CDC42 binding protein kinase beta (DMPK-like) NA NA NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) Gtctcgcctggaatcccagca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF128625 CCDS9978.1 14q32.32 2010-05-12 2001-11-28 ENSG00000198752 ENSG00000198752 9578 1738 protein-coding gene gene with protein product 614062 CDC42-binding protein kinase beta (DMPK-like) NA 10198171 Standard NM_006035 NM_006035 NA Approved MRCKB, KIAA1124 uc001ymi.1 Q9Y5S2 ENST00000361246.2:c.3173-107C>A chr14.hg19:g.103417046G>T NA hg19 CCDS9978.1 0.02 -0.403434 CTGxAAT COVERED NOVEL CDC42BPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415711.1 7 4.81419 KEEP 0 0 0 16 544 GG 0.997832 0.932466 0 - 4 60 106 0 0 6.739698 39 60 1277 75 ENST00000361246.2 0.093023 0.934492 CDC42BPB 9578 __UNKNOWN__ __UNKNOWN__ 14 103501829 103501829 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:103501829A>G ENST00000361246.2 - 1 464 NM_006035.3 NP_006026.3 CDC42 binding protein kinase beta (DMPK-like) NA NA NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) gagcccaggaattggagacca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF128625 CCDS9978.1 14q32.32 2010-05-12 2001-11-28 ENSG00000198752 ENSG00000198752 9578 1738 protein-coding gene gene with protein product 614062 CDC42-binding protein kinase beta (DMPK-like) NA 10198171 Standard NM_006035 NM_006035 NA Approved MRCKB, KIAA1124 uc001ymi.1 Q9Y5S2 ENST00000361246.2:c.175+21506T>C chr14.hg19:g.103501829A>G NA hg19 CCDS9978.1 0.02 -0.131566 GGAxTTG COVERED NOVEL CDC42BPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415711.1 3 2.406587 KEEP 0 0 0 8 246 AA 0.99257 0.22747 0 - 3 60 94 0 0 7.672921 11 60 334 33 ENST00000361246.2 0.214286 0.229173 CDC42BPB 9578 __UNKNOWN__ __UNKNOWN__ 14 103518448 103518448 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:103518448T>C ENST00000361246.2 - 1 464 NM_006035.3 NP_006026.3 CDC42 binding protein kinase beta (DMPK-like) NA NA NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) ggattacaggtgtgagccacc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF128625 CCDS9978.1 14q32.32 2010-05-12 2001-11-28 ENSG00000198752 ENSG00000198752 9578 1738 protein-coding gene gene with protein product 614062 CDC42-binding protein kinase beta (DMPK-like) NA 10198171 Standard NM_006035 NM_006035 NA Approved MRCKB, KIAA1124 uc001ymi.1 Q9Y5S2 ENST00000361246.2:c.175+4887A>G chr14.hg19:g.103518448T>C NA hg19 CCDS9978.1 0.02 -0.236638 AGGxGTG COVERED NOVEL CDC42BPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415711.1 4 2.406907 KEEP 1 0 0 8 239 TT 0.99257 0.607857 0 - 3 60 99 0 0 7.406005 21 60 608 50 ENST00000361246.2 0.125 0.612407 C14orf2 9556 __UNKNOWN__ __UNKNOWN__ 14 104379571 104379571 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:104379571T>C ENST00000554880.1 - 4 302 C14orf2_ENST00000414262.2_Intron|C14orf2_ENST00000555030.1_Intron|C14orf2_ENST00000553430.1_3'UTR|C14orf2_ENST00000286953.3_Intron|C14orf2_ENST00000557040.1_Intron|C14orf2_ENST00000553449.1_Intron P56378 68MP_HUMAN chromosome 14 open reading frame 2 NA NA integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753) kidney(1) 1 Epithelial(152;0.223) gcaggagaattgcttgaacct 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF054175 CCDS9986.1, CCDS45169.1 14q32.33 2013-02-18 ENSG00000156411 ENSG00000156411 9556 1188 protein-coding gene gene with protein product 6.8 kDa mitochondrial proteolipid 604573 NA 9653160 Standard NM_001127393 NM_001127393 NA Approved MP68 uc001yoi.4 P56378 OTTHUMG00000171601 ENST00000554880.1:c.149-540A>G chr14.hg19:g.104379571T>C NA B2R588|G3V5Q3|Q86TT7 hg19 CCDS9986.1 0.02 -0.36806 AATxGCT COVERED NOVEL C14orf2-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414398.1 9 4.073036 KEEP 1 2 55 33 916 TT 1 0.899314 0 - 6 60 164 0 0 11.927835 34 60 863 82 ENST00000554880.1 0.15 0.899314 RP11-982M15.6 0 __UNKNOWN__ __UNKNOWN__ 14 105150814 105150814 __UNKNOWN__ lincRNA SNP G G A rs552855136 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:105150814G>A ENST00000540171.2 + 0 852 NA NA NA actgtggagcgaaagaagcca 0.473 NA g||| 1 0.000199681 0 0 5008 , , NA 23237 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000540171.2: chr14.hg19:g.105150814G>A NA hg19 0.02 0.951497 AGCxAAA COVERED NOVEL RP11-982M15.6-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000410526.1 1 17.438997 KEEP 0 0 0 58 1920 GG 1 0.99993 0 + 5 60 142 0 0 8.096801 90 60 2851 213 ENST00000540171.2 0.052632 0.99993 AHNAK2 113146 __UNKNOWN__ __UNKNOWN__ 14 105410775 105410775 __UNKNOWN__ Intron SNP A A G rs2819424 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:105410775A>G ENST00000557457.1 - 2 24 AHNAK2_ENST00000333244.5_Silent_p.D3671D Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 NA NA costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGAGACTCACATCGGCTTCCA 0.582 NA .||| 2934 0.585863 0.7526 0.5202 5008 , , NA 17655 0.4137 NA 0.5358 False NA ,,, NA NA NA 2504 0.636 NA NA NA NA 0 G 2883,987 1074,735,126 142 150 147 NA 11013 -7.9 0 14 dbSNP_100 147 4492,3782 1231,2030,876 no coding-synonymous AHNAK2 NM_138420.2 2305,2765,1002 GG,GA,AA NA 45.7095,25.5039,39.2704 3671/5796 105410775 7375,4769 1935 4137 6072 SO:0001627 intron_variant AB095939 CCDS45177.1 14q32.33 2010-04-01 2007-03-26 2007-03-26 ENSG00000185567 ENSG00000185567 113146 20125 protein-coding gene gene with protein product 608570 chromosome 14 open reading frame 78 C14orf78 NA 15007166 Standard NM_138420 NM_138420 NA Approved uc010axc.1 Q8IVF2 ENST00000557457.1:c.220-3460T>C chr14.hg19:g.105410775A>G NA Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9 hg19 0.02 1.429666 CACxTCG COVERED NOVEL AHNAK2-003 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000410299.1 3 19.858783 KEEP 0 0 0 66 2037 AA 1 0.999948 0 - 6 60 186 0 0 11.755698 89 60 2557 231 ENST00000557457.1 0.063158 0.999948 GPR132 29933 __UNKNOWN__ __UNKNOWN__ 14 105515873 105515873 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:105515873G>T ENST00000392585.2 - 0 2747 GPR132_ENST00000329797.3_3'UTR NM_001278695.1 NP_001265624.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 NA NA G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) gtgctgggatgacaggcgtga 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF083955 CCDS9997.1, CCDS61567.1 14q32.3 2012-08-21 ENSG00000183484 ENSG00000183484 29933 GPCR / Class A : Orphans 17482 protein-coding gene gene with protein product G2 accumulation 606167 NA 12086852 Standard NM_013345 NM_013345 NA Approved G2A uc001yqd.3 Q9UNW8 OTTHUMG00000140173 ENST00000392585.2:c.*1458C>A chr14.hg19:g.105515873G>T NA A8K7X7|B4E144|Q9BSU2 hg19 0.02 2.45548 GATxACA COVERED NOVEL GPR132-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409279.1 19 2.821583 KEEP 0 6 151 63 2186 GG 1 1 0 - 7 60 188 0 0 10.529627 116 60 3941 272 ENST00000392585.2 0.056911 1 GPR132 29933 __UNKNOWN__ __UNKNOWN__ 14 105521645 105521645 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:105521645T>C ENST00000392585.2 - 2 181 GPR132_ENST00000539291.2_Intron|GPR132_ENST00000329797.3_Intron|GPR132_ENST00000546679.1_Intron NM_001278695.1 NP_001265624.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 NA NA G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) gcctgggcgatagagtgagac 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 56 56 56 NA NA NA 14 NA NA 105521645 692 1591 2283 SO:0001627 intron_variant AF083955 CCDS9997.1, CCDS61567.1 14q32.3 2012-08-21 ENSG00000183484 ENSG00000183484 29933 GPCR / Class A : Orphans 17482 protein-coding gene gene with protein product G2 accumulation 606167 NA 12086852 Standard NM_013345 NM_013345 NA Approved G2A uc001yqd.3 Q9UNW8 OTTHUMG00000140173 ENST00000392585.2:c.7+1858A>G chr14.hg19:g.105521645T>C NA A8K7X7|B4E144|Q9BSU2 hg19 0.02 3.847779 CGAxAGA COVERED NOVEL GPR132-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409279.1 11 10.665187 KEEP 0 1 39 49 1452 TT 1 0.999987 0 - 5 60 174 1 0 11.147615 96 60 2633 212 ENST00000392585.2 0.049505 0.999987 BRF1 2972 __UNKNOWN__ __UNKNOWN__ 14 105769319 105769319 __UNKNOWN__ 5'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:105769319T>G ENST00000546474.1 - 0 12607 BRF1_ENST00000327359.3_Intron|PACS2_ENST00000430725.2_Intron|BRF1_ENST00000440513.3_Intron NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit NA NA gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304) nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126) zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) aggctggagttcagtggtgcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U28838 CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1 14q32.33 2014-04-02 2013-05-29 2001-12-07 ENSG00000185024 ENSG00000185024 2972 General transcription factors 11551 protein-coding gene gene with protein product 604902 TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2, BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) TAF3B2, TAF3C, GTF3B NA 7624363, 8943358 Standard NM_001519 NM_145685 NA Approved TFIIIB90, BRF, hBRF uc001yqp.2 Q92994 OTTHUMG00000029884 ENST00000546474.1:c.-2353A>C chr14.hg19:g.105769319T>G NA B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8 hg19 CCDS10001.1 0.02 -0.341989 AGTxCAG COVERED NOVEL BRF1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074548.4 6 3.007716 KEEP 0 0 0 10 306 TT 0.992708 0.859432 0 - 4 60 130 0 0 9.617821 29 60 884 67 ENST00000546474.1 0.121212 0.865745 PACS2 23241 __UNKNOWN__ __UNKNOWN__ 14 105841569 105841569 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:105841569A>C ENST00000325438.8 + 9 1305 PACS2_ENST00000458164.2_Intron|PACS2_ENST00000447393.1_Intron|PACS2_ENST00000430725.2_Intron|PACS2_ENST00000547217.1_Intron Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 NA NA apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) gtaatcccagaactttgggag 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011174 CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1 14q32 2005-02-15 2005-02-15 2005-02-15 ENSG00000179364 23241 23794 protein-coding gene gene with protein product 610423 phosphofurin acidic cluster sorting protein 1-like PACS1L NA 15692567 Standard XM_377355 NM_001100913 NA Approved KIAA0602 uc001yqu.3 Q86VP3 OTTHUMG00000170450 ENST00000325438.8:c.802-1536A>C chr14.hg19:g.105841569A>C NA A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7 hg19 CCDS32168.1 0.02 -0.280547 CAGxACT COVERED NOVEL PACS2-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000409209.1 8 2.40735 KEEP 1 0 0 8 252 AA 0.99257 0.734176 0 + 3 60 101 0 0 7.443333 24 60 681 64 ENST00000325438.8 0.111111 0.739671 IGHA2 3494 __UNKNOWN__ __UNKNOWN__ 14 106053850 106053850 __UNKNOWN__ RNA SNP C C T rs200190768 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106053850C>T ENST00000390539.2 - 0 628 P01877 IGHA2_HUMAN immunoglobulin heavy constant alpha 2 (A2m marker) NA NA antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751) antigen binding (GO:0003823) NA GCTTTGCAAACCAGAGCACTG 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 30 36 34 NA NA NA 14 NA NA 106053850 1969 4147 6116 J00221 14q32.33 2012-10-02 ENSG00000211890 ENSG00000211890 3494 Immunoglobulins / IGH locus 5479 other immunoglobulin gene 147000 NA Standard NG_001019 NG_001019 NA Approved P01877 OTTHUMG00000152472 ENST00000390539.2: chr14.hg19:g.106053850C>T NA hg19 0.02 3.323973 AAAxCAG COVERED NOVEL IGHA2-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene NA IG_C_gene OTTHUMT00000326338.1 2 2.247174 KEEP 2 4 127 52 1844 CC 1 0.999992 0 - 14 49 416 0 0 30.188129 95 60 3182 230 ENST00000390539.2 0.12844 0.999992 IGHA1 3493 __UNKNOWN__ __UNKNOWN__ 14 106174654 106174654 __UNKNOWN__ RNA SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106174654C>G ENST00000390547.2 - 0 307 P01876 IGHA1_HUMAN immunoglobulin heavy constant alpha 1 NA NA antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751) antigen binding (GO:0003823) NA TGTCAGGGCACGACGGGGTGG 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 25 30 28 NA NA NA 14 NA NA 106174654 2043 4180 6223 J00220 14q32.33 2012-10-02 ENSG00000211895 ENSG00000211895 3493 Immunoglobulins / IGH locus 5478 other immunoglobulin gene 146900 NA Standard NG_001019 NG_001019 NA Approved P01876 OTTHUMG00000152494 ENST00000390547.2: chr14.hg19:g.106174654C>G NA hg19 0.02 -0.384608 GCAxGAC COVERED NOVEL IGHA1-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene NA IG_C_gene OTTHUMT00000326459.1 0 2.406774 KEEP 0 0 0 8 257 CC 0.99257 0.911349 0 - 15 51 501 0 0 45.028842 29 60 921 63 ENST00000390547.2 0.340909 0.918171 IGHA1 3493 __UNKNOWN__ __UNKNOWN__ 14 106174767 106174767 __UNKNOWN__ RNA SNP G G T rs1128862 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106174767G>T ENST00000390547.2 - 0 235 P01876 IGHA1_HUMAN immunoglobulin heavy constant alpha 1 NA NA antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751) antigen binding (GO:0003823) NA GGACTTGCCGGCTAGGCACTG 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 71 67 NA NA NA 14 NA NA 106174767 2123 4240 6363 J00220 14q32.33 2012-10-02 ENSG00000211895 ENSG00000211895 3493 Immunoglobulins / IGH locus 5478 other immunoglobulin gene 146900 NA Standard NG_001019 NG_001019 NA Approved P01876 OTTHUMG00000152494 ENST00000390547.2: chr14.hg19:g.106174767G>T NA hg19 0.02 1.379786 CCGxCTA COVERED NOVEL IGHA1-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene NA IG_C_gene OTTHUMT00000326459.1 1 5.104195 KEEP 1 0 0 17 577 GG 0.999366 0.998854 0 - 6 60 174 0 0 10.98702 75 60 2515 153 ENST00000390547.2 0.074074 0.999487 IGHG1 3500 __UNKNOWN__ __UNKNOWN__ 14 106209289 106209289 __UNKNOWN__ RNA SNP C C T rs17850096 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106209289C>T ENST00000390548.2 - 0 119 P01857 IGHG1_HUMAN immunoglobulin heavy constant gamma 1 (G1m marker) NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) antigen binding (GO:0003823) NA CTGAGTTCCACGACACCGTCA 0.662 NA .||| 13 0.00259585 0 0.0058 5008 , , NA 19637 0 NA 0.0089 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 C 4,3836 0,4,1916 31 27 28 NA -6.9 0 14 dbSNP_123 28 50,8146 0,50,4048 no intergenic 0,54,5964 TT,TC,CC NA 0.6101,0.1042,0.4487 106209289 54,11982 1920 4098 6018 J00228 14q32.33 2012-10-02 ENSG00000211896 ENSG00000211896 3500 Immunoglobulins / IGH locus 5525 other immunoglobulin gene 147100 NA Standard NG_001019 NG_001019 NA Approved uc001yse.3 P01857 OTTHUMG00000152495 ENST00000390548.2: chr14.hg19:g.106209289C>T NA hg19 0.02 -0.263115 CCAxGAC COVERED NOVEL IGHG1-002 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest IG_C_gene NA IG_C_gene OTTHUMT00000326504.1 0 3.912288 KEEP 4 0 0 13 448 CC 0.993072 0.688863 0 - 3 60 93 0 0 6.498616 27 60 892 61 ENST00000390548.2 0.1 0.693668 IGHV3-7 28452 __UNKNOWN__ __UNKNOWN__ 14 106518714 106518714 __UNKNOWN__ RNA SNP A A C rs533175945 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106518714A>C ENST00000390598.2 - 0 125 immunoglobulin heavy variable 3-7 NA NA NA CCTGCAAACAAAGAGACACCA 0.517 NA .||| 4 0.000798722 0.0015 0 5008 , , NA 10973 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 156 148 151 NA NA NA 14 NA NA 106518714 1896 4112 6008 M99649 14q32.33 2012-02-08 ENSG00000211938 ENSG00000211938 28452 Immunoglobulins / IGH locus 5620 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152271 ENST00000390598.2: chr14.hg19:g.106518714A>C NA hg19 0.02 3.821354 ACAxAGA COVERED NOVEL IGHV3-7-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325659.1 6 8.704652 KEEP 9 5 151 82 2535 AA 1 0.999992 0 - 5 22 177 0 0 11.360394 100 60 2870 272 ENST00000390598.2 0.047619 0.999992 IGHV3-9 28451 __UNKNOWN__ __UNKNOWN__ 14 106552536 106552536 __UNKNOWN__ RNA SNP T T C rs587603945 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106552536T>C ENST00000390600.2 - 0 182 immunoglobulin heavy variable 3-9 NA NA NA CTCAGGGACCTGCCAGGCTGT 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 81 61 68 NA NA NA 14 NA NA 106552536 1836 3440 5276 M99651 14q32.33 2012-02-08 ENSG00000211940 28451 Immunoglobulins / IGH locus 5628 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152291 ENST00000390600.2: chr14.hg19:g.106552536T>C NA hg19 0.02 1.602015 ACCxGCC COVERED NOVEL IGHV3-9-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325679.1 1 15.046984 KEEP 0 3 106 87 2693 TT 1 0.995084 0 - 5 39 163 0 0 11.000551 61 60 1778 172 ENST00000390600.2 0.075758 0.995084 IGHV3-9 28451 __UNKNOWN__ __UNKNOWN__ 14 106552537 106552537 __UNKNOWN__ RNA SNP G G C rs587667180 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106552537G>C ENST00000390600.2 - 0 181 immunoglobulin heavy variable 3-9 NA NA NA TCAGGGACCTGCCAGGCTGTA 0.572 NA .||| 97 0.019369 0.0038 0.0245 5008 , , NA 6673 0.0278 NA 0.004 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 81 61 68 NA NA NA 14 NA NA 106552537 1835 3439 5274 M99651 14q32.33 2012-02-08 ENSG00000211940 28451 Immunoglobulins / IGH locus 5628 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152291 ENST00000390600.2: chr14.hg19:g.106552537G>C NA hg19 0.02 1.511358 CCTxCCA COVERED NOVEL IGHV3-9-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325679.1 1 14.8544 KEEP 0 3 108 87 3042 GG 1 0.994422 0 - 5 39 145 0 0 9.265254 60 60 1994 173 ENST00000390600.2 0.076923 0.994422 IGHV3-9 28451 __UNKNOWN__ __UNKNOWN__ 14 106552551 106552551 __UNKNOWN__ RNA SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106552551A>C ENST00000390600.2 - 0 167 immunoglobulin heavy variable 3-9 NA NA NA GGCTGTACCAAGCCTCCCCCA 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 90 66 74 NA NA NA 14 NA NA 106552551 1843 3489 5332 M99651 14q32.33 2012-02-08 ENSG00000211940 28451 Immunoglobulins / IGH locus 5628 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152291 ENST00000390600.2: chr14.hg19:g.106552551A>C NA hg19 0.02 1.5962 CCAxGCC COVERED NOVEL IGHV3-9-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325679.1 4 12.441604 KEEP 2 3 105 78 2460 AA 1 0.99911 0 - 5 39 173 0 0 11.623603 73 60 2173 194 ENST00000390600.2 0.064103 0.99911 IGHV4-28 28400 __UNKNOWN__ __UNKNOWN__ 14 106780803 106780803 __UNKNOWN__ RNA SNP C C G rs200533358 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106780803C>G ENST00000390612.2 - 0 132 immunoglobulin heavy variable 4-28 NA NA NA TGCAGCTGCACCTGGGACAGG 0.587 NA c||| 2 0.000399361 8e-04 0 5008 , , NA 13058 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 43 50 48 NA NA NA 14 NA NA 106780803 1881 4113 5994 X05714 14q32.33 2012-02-08 ENSG00000211952 ENSG00000211952 28400 Immunoglobulins / IGH locus 5645 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152062 ENST00000390612.2: chr14.hg19:g.106780803C>G NA hg19 0.02 -0.41229 GCAxCTG COVERED NOVEL IGHV4-28-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325156.1 0 7.459461 KEEP 0 1 35 37 1265 CC 1 0.948402 0 - 4 48 133 0 0 9.30884 42 60 1384 105 ENST00000390612.2 0.086957 0.948402 IGHV3-48 28424 __UNKNOWN__ __UNKNOWN__ 14 106994129 106994129 __UNKNOWN__ RNA SNP A A T rs370031142 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:106994129A>T ENST00000390624.2 - 0 125 immunoglobulin heavy variable 3-48 NA NA NA CTGCAAACAAAGAGACACCAA 0.507 NA A||| 3 0.000599042 0 0 5008 , , NA 17839 0 NA 0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 123 120 121 NA NA NA 14 NA NA 106994129 1914 4122 6036 M99675 14q32.33 2012-02-08 ENSG00000211964 ENSG00000211964 28424 Immunoglobulins / IGH locus 5606 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151959 ENST00000390624.2: chr14.hg19:g.106994129A>T NA hg19 0.02 1.193012 CAAxGAG COVERED NOVEL IGHV3-48-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324605.1 12 7.124678 KEEP 25 3 95 57 1819 AA 1 0.999862 0 - 10 37 314 0 0 22.752988 76 60 2238 225 ENST00000390624.2 0.116279 0.999862 IGHV3-64 28414 __UNKNOWN__ __UNKNOWN__ 14 107114032 107114032 __UNKNOWN__ RNA SNP C C T rs181750086 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:107114032C>T ENST00000454421.2 - 0 139 immunoglobulin heavy variable 3-64 NA NA NA CCAGCTGCACCTCACACTGGA 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 94 102 100 NA NA NA 14 NA NA 107114032 1876 4106 5982 M99682 14q32.33 2012-02-08 ENSG00000223648 ENSG00000223648 28414 Immunoglobulins / IGH locus 5617 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151971 ENST00000454421.2: chr14.hg19:g.107114032C>T NA hg19 0.02 4.811918 CACxTCA COVERED NOVEL IGHV3-64-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324617.1 58 28.763978 KEEP 27 2 64 118 4243 CC 1 1 0 - 9 60 273 0 0 17.760955 110 60 3752 394 ENST00000454421.2 0.07563 1 IGHV3-64 28414 __UNKNOWN__ __UNKNOWN__ 14 107114111 107114111 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:107114111C>T ENST00000454421.2 - 0 126 immunoglobulin heavy variable 3-64 NA NA NA TCACTCATGTCCACTCACACT 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 122 122 122 NA NA NA 14 NA NA 107114111 1945 4146 6091 M99682 14q32.33 2012-02-08 ENSG00000223648 ENSG00000223648 28414 Immunoglobulins / IGH locus 5617 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151971 ENST00000454421.2: chr14.hg19:g.107114111C>T NA hg19 0.02 5.609167 TGTxCAC COVERED NOVEL IGHV3-64-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324617.1 52 29.686136 KEEP 12 3 95 132 4460 CC 1 1 0 - 13 60 367 0 0 24.394207 121 60 3948 459 ENST00000454421.2 0.097015 1 IGHV3-66 28412 __UNKNOWN__ __UNKNOWN__ 14 107131051 107131051 __UNKNOWN__ RNA SNP A A G rs2583287 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:107131051A>G ENST00000390632.2 - 0 408 immunoglobulin heavy variable 3-66 NA NA NA AGTAATACACAGCCGTGTCCT 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 111 138 129 NA NA NA 14 NA NA 107131051 2105 4241 6346 X92218 14q32.33 2012-02-08 ENSG00000211972 ENSG00000211972 28412 Immunoglobulins / IGH locus 5619 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151880 ENST00000390632.2: chr14.hg19:g.107131051A>G NA hg19 0.02 -0.271898 CACxGCC COVERED NOVEL IGHV3-66-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324225.1 0 4.647673 KEEP 6 1 30 26 816 AA 0.999909 0.71725 0 - 4 47 117 0 0 8.434567 27 60 819 77 ENST00000390632.2 0.129032 0.717315 IGHV3-66 28412 __UNKNOWN__ __UNKNOWN__ 14 107131110 107131110 __UNKNOWN__ RNA SNP C C G rs200434308 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr14:107131110C>G ENST00000390632.2 - 0 349 immunoglobulin heavy variable 3-66 NA NA NA TTGGAATTGTCTCTGGAGATG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C 132,4148 0,132,2008 102 125 117 NA 1.7 0.8 14 dbSNP_134 117 257,8263 1,255,4004 no intergenic 1,387,6012 GG,GC,CC NA 3.0164,3.0841,3.0391 107131110 389,12411 2140 4260 6400 X92218 14q32.33 2012-02-08 ENSG00000211972 ENSG00000211972 28412 Immunoglobulins / IGH locus 5619 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151880 ENST00000390632.2: chr14.hg19:g.107131110C>G NA hg19 0.02 -0.350878 TGTxTCT COVERED NOVEL IGHV3-66-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324225.1 4 4.333417 KEEP 12 4 148 66 2220 CC 1 0.877708 0 - 7 47 247 0 0 19.985372 33 55 1081 151 ENST00000390632.2 0.175 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20137974 20137974 __UNKNOWN__ IGR SNP C C T rs536382362 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20137974C>T NA NA RNU6-978P (49005 upstream) : IGHV1OR15-9 (31944 downstream) NA NA NA cgtgataaacccaccccagcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20137974C>T NA hg19 0.02 -0.324558 AACxCAC COVERED NOVEL 0 16 3.310718 KEEP 30 0 0 11 385 CC 0.99257 0.871187 0 4 24 116 0 0 8.662931 22 60 732 112 0.153846 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20138471 20138471 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20138471G>A NA NA RNU6-978P (49502 upstream) : IGHV1OR15-9 (31447 downstream) NA NA NA agaaagaaaagaaggaggaaa 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20138471G>A NA hg19 0.02 -0.192974 AAAxAAG UNCOVERED NOVEL 0 13 2.4079 KEEP 3 0 0 8 288 GG 0 0 0 7 60 200 0 0 18.335614 10 60 358 42 0.411765 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20385562 20385562 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20385562C>T NA NA RP11-173D3.1 (32356 upstream) : CHEK2P2 (102434 downstream) NA NA NA cctcgtgatccgcccacctcg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20385562C>T NA hg19 0.02 -0.175444 ATCxGCC UNCOVERED NOVEL 0 5 2.407511 KEEP 12 0 0 8 270 CC 0 0 0 3 49 91 0 0 6.861141 17 45 568 60 0.15 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20433934 20433934 __UNKNOWN__ IGR SNP G G A rs181123873 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20433934G>A NA NA RP11-173D3.1 (80728 upstream) : CHEK2P2 (54062 downstream) NA NA NA CTTGACCTGAGGCCGTGCAGC 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20433934G>A NA hg19 0.02 6.004667 TGAxGCC COVERED NOVEL 0 6 15.650316 KEEP 171 17 551 245 8859 GG 1 1 0 21 43 640 2 0 42.880713 225 48 7765 907 0.085366 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20434285 20434285 __UNKNOWN__ IGR SNP A A C rs7496932 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20434285A>C NA NA RP11-173D3.1 (81079 upstream) : CHEK2P2 (53711 downstream) NA NA NA caagaccagcatggccaacat 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20434285A>C NA hg19 0.02 -0.245523 AGCxTGG COVERED NOVEL 0 5 4.211517 KEEP 1 0 0 14 417 AA 0.995343 0.638361 0 3 52 96 0 0 6.99566 23 60 643 49 0.115385 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20444702 20444702 __UNKNOWN__ IGR SNP C C T rs201397924 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20444702C>T NA NA RP11-173D3.1 (91496 upstream) : CHEK2P2 (43294 downstream) NA NA NA ATCTCGATCTCGTCCTCACCA 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20444702C>T NA hg19 0.02 8.0279 TCTxGTC COVERED NOVEL 0 20 4.068891 KEEP 2 11 316 125 4187 CC 1 1 0 23 50 606 1 0 35.79058 296 60 9426 669 0.0721 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20447130 20447130 __UNKNOWN__ IGR SNP G G C rs4931880 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20447130G>C NA NA RP11-173D3.1 (93924 upstream) : CHEK2P2 (40866 downstream) NA NA NA gtgtttgcctgtagtcccatc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20447130G>C NA hg19 0.02 1.953126 CCTxTAG COVERED NOVEL 0 10 3.610711 KEEP 0 0 0 12 413 GG 0.993634 0.983243 0 4 60 134 0 0 9.120755 50 60 1702 100 0.074074 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20450433 20450433 __UNKNOWN__ IGR SNP G G T rs60793038 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20450433G>T NA NA RP11-173D3.1 (97227 upstream) : CHEK2P2 (37563 downstream) NA NA NA CCAAGAGGTTGGACGTTCTCT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20450433G>T NA hg19 0.02 1.220596 GTTxGAC COVERED NOVEL 0 1 4.016962 KEEP 0 3 93 46 1570 GG 1 0.999768 0 10 60 290 0 0 20.314802 77 60 2466 143 0.114943 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20452594 20452594 __UNKNOWN__ IGR SNP T T A rs12594690 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20452594T>A NA NA RP11-173D3.1 (99388 upstream) : CHEK2P2 (35402 downstream) NA NA NA tgagacggcatctctacaaaa 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20452594T>A NA hg19 0.02 -0.412115 GCAxCTC COVERED NOVEL 0 11 3.30974 KEEP 3 0 0 11 340 TT 0.992708 0.934874 0 8 60 226 0 0 17.361929 36 60 1043 81 0.181818 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20456828 20456828 __UNKNOWN__ IGR SNP G G A rs56331633 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20456828G>A NA NA RP11-173D3.1 (103622 upstream) : CHEK2P2 (31168 downstream) NA NA NA CCCGGCACAAGGGCCCTCATG 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20456828G>A NA hg19 0.02 2.723003 CAAxGGC COVERED NOVEL 0 1 4.985214 KEEP 2 2 61 38 1319 GG 1 0.999999 0 16 60 461 0 0 33.222036 105 60 3442 185 0.132231 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20462367 20462367 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20462367A>G NA NA RP11-173D3.1 (109161 upstream) : CHEK2P2 (25629 downstream) NA NA NA gattacaggcatgagccaccg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20462367A>G NA hg19 0.02 1.718937 GGCxTGA COVERED NOVEL 0 10 2.707951 KEEP 1 0 0 9 275 AA 0.99254 0.987004 0 4 60 131 0 0 8.630412 56 60 1657 114 0.066667 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20464677 20464677 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20464677A>C NA NA RP11-173D3.1 (111471 upstream) : CHEK2P2 (23319 downstream) NA NA NA gcagaagttgaagtgagctga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20464677A>C NA hg19 0.02 3.596943 TTGxAGT COVERED NOVEL 0 14 11.266783 KEEP 2 1 36 50 1587 AA 1 0.999995 0 8 70 198 0 1 11.558875 99 70 2989 176 0.074766 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20465439 20465439 __UNKNOWN__ IGR SNP G G A rs2722116 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20465439G>A NA NA RP11-173D3.1 (112233 upstream) : CHEK2P2 (22557 downstream) NA NA NA ctcccaaagtgctaggattac 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20465439G>A NA hg19 0.02 -0.166675 AGTxCTA UNCOVERED NOVEL 0 14 2.708923 KEEP 18 0 0 9 327 GG 0 0 0 3 60 85 0 0 6.410627 15 60 522 59 0.166667 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20470563 20470563 __UNKNOWN__ IGR SNP C C T rs4931818 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20470563C>T NA NA RP11-173D3.1 (117357 upstream) : CHEK2P2 (17433 downstream) NA NA NA gccaggagttcgagaccagcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20470563C>T NA hg19 0.02 -0.385928 GTTxGAG COVERED NOVEL 0 9 2.40776 KEEP 2 0 0 8 272 CC 0.99257 0.911349 0 17 60 505 0 0 48.075928 18 60 584 74 0.485714 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20484406 20484406 __UNKNOWN__ IGR SNP C C G rs57946469 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20484406C>G NA NA RP11-173D3.1 (131200 upstream) : CHEK2P2 (3590 downstream) NA NA NA aatcctagcactttgggaggc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20484406C>G NA hg19 0.02 2.032062 GCAxTTT COVERED NOVEL 0 7 2.672502 KEEP 1 0 0 9 280 CC 0.99254 0.963578 0 6 60 214 0 0 16.589758 39 60 1351 94 0.133333 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20484620 20484620 __UNKNOWN__ IGR SNP A A T rs2601539 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20484620A>T NA NA RP11-173D3.1 (131414 upstream) : CHEK2P2 (3376 downstream) NA NA NA accattgcacaccagcatggg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20484620A>T NA hg19 0.02 -0.298202 CACxCCA COVERED NOVEL 0 11 2.40718 KEEP 1 0 0 8 247 AG 0.99254 0.775233 0 5 60 156 0 0 12.117304 25 60 744 67 0.166667 0.78106 CHEK2P2 646096 __UNKNOWN__ __UNKNOWN__ 15 20488959 20488959 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20488959A>G ENST00000555186.1 + 0 395 NR_038836.1 checkpoint kinase 2 pseudogene 2 NA NA NA AGGTGATTAGATGAAGTCACA 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 15q11.1 2011-11-11 ENSG00000259156 ENSG00000259156 646096 43578 pseudogene pseudogene NA Standard NR_038836 NR_038836 NA Approved uc001ytf.1 OTTHUMG00000171660 ENST00000555186.1: chr15.hg19:g.20488959A>G NA hg19 0.02 1.821866 TAGxTGA COVERED NOVEL CHEK2P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000414654.1 4 3.544104 KEEP 5 1 35 24 715 AA 0.999909 0.998605 0 + 16 49 529 0 0 43.656783 59 50 1613 119 ENST00000555186.1 0.213333 0.998696 CHEK2P2 646096 __UNKNOWN__ __UNKNOWN__ 15 20489089 20489089 __UNKNOWN__ RNA SNP A A G rs563346853 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20489089A>G ENST00000555186.1 + 0 395 NR_038836.1 checkpoint kinase 2 pseudogene 2 NA NA NA ctgggactacatgcgcacacc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 15q11.1 2011-11-11 ENSG00000259156 ENSG00000259156 646096 43578 pseudogene pseudogene NA Standard NR_038836 NR_038836 NA Approved uc001ytf.1 OTTHUMG00000171660 ENST00000555186.1: chr15.hg19:g.20489089A>G NA hg19 0.02 -0.315685 TACxTGC COVERED NOVEL CHEK2P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000414654.1 9 3.00895 KEEP 4 0 0 10 312 AA 0.99257 0.812384 0 + 4 60 127 0 0 9.318098 29 60 820 64 ENST00000555186.1 0.121212 0.818465 RP11-509A17.3 0 __UNKNOWN__ __UNKNOWN__ 15 20561180 20561180 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20561180A>G ENST00000557528.1 + 0 760 NA NA NA ctggagtgcaatggcgtgatc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000557528.1: chr15.hg19:g.20561180A>G NA hg19 0.02 3.710811 GCAxTGG COVERED NOVEL RP11-509A17.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000414658.1 23 5.415907 KEEP 8 0 0 18 555 AA 0.999366 0.999366 0 + 11 60 380 0 0 27.289698 109 60 3077 233 ENST00000557528.1 0.091667 1 RP11-509A17.3 0 __UNKNOWN__ __UNKNOWN__ 15 20561192 20561192 __UNKNOWN__ lincRNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20561192C>T ENST00000557528.1 + 0 760 NA NA NA ggcgtgatctcggctcactgc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000557528.1: chr15.hg19:g.20561192C>T NA hg19 0.02 3.046444 TCTxGGC COVERED NOVEL RP11-509A17.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000414658.1 18 5.692276 KEEP 5 0 0 19 590 CC 0.999859 0.999857 0 + 7 60 204 1 0 12.502411 101 60 3096 196 ENST00000557528.1 0.064815 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20845206 20845206 __UNKNOWN__ IGR SNP G G A rs114249141 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20845206G>A NA NA AC131280.1 (67754 upstream) : NBEAP1 (24847 downstream) NA NA NA GTGAGGTGCCGTGCTCTGGGG 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20845206G>A NA hg19 0.02 -0.368394 GCCxTGC COVERED NOVEL 0 0 6.253903 KEEP 0 1 29 31 1058 GG 0.999997 0.899312 0 6 49 164 0 0 11.926795 34 51 1127 109 0.15 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20864728 20864728 __UNKNOWN__ IGR SNP C C T rs7402220 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20864728C>T NA NA AC131280.1 (87276 upstream) : NBEAP1 (5325 downstream) NA NA NA aggtggcagactgcctgagtg 0.522 NA c||| 2139 0.427117 0.3578 0.4063 5008 , , NA 50919 0.4911 NA 0.4294 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20864728C>T NA hg19 0.02 -0.253084 AGAxTGC COVERED NOVEL 0 6 3.912893 KEEP 0 0 0 13 478 CC 0.994391 0.664773 0 4 60 100 0 1 7.10556 22 60 730 60 0.153846 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20864731 20864731 __UNKNOWN__ IGR SNP C C T rs7402221 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:20864731C>T NA NA AC131280.1 (87279 upstream) : NBEAP1 (5322 downstream) NA NA NA tggcagactgcctgagtgcag 0.517 NA C||| 2139 0.427117 0.3578 0.4063 5008 , , NA 48726 0.4911 NA 0.4294 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20864731C>T NA hg19 0.02 -0.254209 CTGxCTG COVERED NOVEL 0 6 3.611926 KEEP 0 0 0 12 437 CC 0.993634 0.664267 0 4 60 105 0 0 7.652243 21 60 697 60 0.16 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21036959 21036959 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:21036959A>G NA NA AC012414.1 (31592 upstream) : MIR3118-4 (1164 downstream) NA NA NA acaggcgtgaaccaccgcgcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21036959A>G NA hg19 0.02 -0.403234 TGAxCCA COVERED NOVEL 0 9 2.707774 KEEP 2 0 0 9 277 AA 0.99254 0.927521 0 3 48 109 0 0 7.740033 36 52 1017 79 0.076923 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21932768 21932768 __UNKNOWN__ IGR SNP T T C rs1112180 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:21932768T>C NA NA RP11-854K16.3 (597344 upstream) : RP11-32B5.7 (8378 downstream) NA NA NA AACATAATTGTTTCTCTTAAT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21932768T>C NA hg19 0.02 -0.157317 TTGxTTC COVERED NOVEL 0 3 2.407073 KEEP 0 0 0 8 248 TT 0.99257 0.320408 0 4 60 106 0 0 8.601663 12 60 358 34 0.25 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21937168 21937168 __UNKNOWN__ IGR SNP C C T rs12185110 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:21937168C>T NA NA RP11-854K16.3 (601744 upstream) : RP11-32B5.7 (3978 downstream) NA NA NA AGGTATTCCACGACCACAAAC 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21937168C>T NA hg19 0.02 -0.377129 CCAxGAC COVERED NOVEL 0 1 4.212821 KEEP 0 0 0 14 450 CC 0.995343 0.904836 0 8 60 219 0 0 16.749517 35 60 1096 71 0.186047 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21937362 21937362 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:21937362C>T NA NA RP11-854K16.3 (601938 upstream) : RP11-32B5.7 (3784 downstream) NA NA NA ACCAGAAGCCCCTTGTCCAAT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21937362C>T NA hg19 0.02 1.21918 GCCxCTT COVERED NOVEL 0 8 6.620715 KEEP 0 0 0 22 743 CC 0.999879 0.999647 0 15 60 443 0 0 34.177398 71 60 2385 146 0.174419 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22413693 22413693 __UNKNOWN__ IGR SNP G G C rs200290180 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:22413693G>C NA NA RP11-69H14.6 (29885 upstream) : RP11-2F9.4 (20196 downstream) NA NA NA CTTCATTGTGGCTCCCAAGAT 0.498 NA N||| 36 0.0071885 0.0023 0.0058 5008 , , NA 32971 0.003 NA 0.0169 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.22413693G>C NA hg19 0.02 -0.201658 GTGxCTC COVERED NOVEL 0 0 2.339885 KEEP 16 1 32 19 627 GG 0.999366 0.490234 0 3 27 95 0 0 7.065973 20 40 630 69 0.130435 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22692211 22692211 __UNKNOWN__ IGR SNP G G C rs200274223 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:22692211G>C NA NA MIR4509-2 (16970 upstream) : GOLGA8DP (12509 downstream) NA NA NA GGGTGACTTTGGTCAGTTTCC 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.22692211G>C NA hg19 0.02 -0.263117 TTTxGTC COVERED NOVEL 0 1 2.400702 KEEP 10 0 0 8 233 GG 0.99257 0.688515 0 8 47 254 0 0 21.662624 22 48 712 61 0.266667 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22887255 22887255 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:22887255G>A NA NA TUBGCP5 (13363 upstream) : CYFIP1 (5407 downstream) NA NA NA tcactctgtcgcccaggctgg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.22887255G>A NA hg19 0.02 -0.2456 GTCxCCC UNCOVERED NOVEL 0 11 2.407984 KEEP 2 0 0 8 296 GG 0 0 0 3 60 87 0 0 6.461617 17 60 575 52 0.15 0.641347 HERC2P2 400322 __UNKNOWN__ __UNKNOWN__ 15 23283320 23283320 __UNKNOWN__ RNA SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:23283320C>A ENST00000560464.1 - 0 5097 hect domain and RLD 2 pseudogene 2 NA NA NA CAGCGTGTGCCTTTTCCTTCC 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF041080 15q11.2 2014-03-18 ENSG00000140181 400322 4870 pseudogene pseudogene NA 9730612 Standard NR_002824 NA Approved D15F37S3 uc001yvq.2 OTTHUMG00000171926 ENST00000560464.1: chr15.hg19:g.23283320C>A NA hg19 0.02 1.377148 TGCxTTT COVERED NOVEL HERC2P2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000415936.1 3 9.299787 KEEP 1 2 63 53 1884 CC 1 0.996724 0 - 17 60 464 0 0 37.660685 53 60 1770 143 ENST00000560464.1 0.242857 0.996724 GOLGA6L2 283685 __UNKNOWN__ __UNKNOWN__ 15 23685232 23685232 __UNKNOWN__ Missense_Mutation SNP A A G rs371798993 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:23685232A>G ENST00000567107.1 - 8 2442 c.2390T>C c.(2389-2391)gTg>gCg p.V797A GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron Q8N9W4 GG6L2_HUMAN golgin A6 family-like 2 0 NA breast(1)|endometrium(7) 8 tcctgctcccacatcttctcc 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK093463 15q11.2 2012-10-05 2010-02-12 ENSG00000174450 ENSG00000174450 283685 26695 protein-coding gene gene with protein product cancer/testis antigen 105 golgi autoantigen, golgin subfamily a, 6-like 2 NA Standard NM_182561 XM_002343322 NA Approved CT105, FLJ36144 uc021sfy.1 Q8N9W4 OTTHUMG00000176417 ENST00000567107.1:c.2390T>C chr15.hg19:g.23685232A>G ENSP00000454407:p.Val797Ala NA A1L301 hg19 0.02 -0.192725 CCCxCAT UNCOVERED NOVEL GOLGA6L2-002 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000431937.1 14 2.407111 KEEP 6 0 0 8 249 AA 0 0 0 - 6 60 179 0 0 17.830176 4 26 109 40 ENST00000567107.1 0.6 0.457757 SNRPN 6638 __UNKNOWN__ __UNKNOWN__ 15 25219949 25219949 __UNKNOWN__ 5'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:25219949A>G ENST00000554227.2 + 0 793 SNRPN_ENST00000390687.4_Intron|SNURF_ENST00000338094.6_Intron|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400098.1_Intron|SNRPN_ENST00000444203.2_5'UTR|SNRPN_ENST00000400100.1_Intron|SNRPN_ENST00000346403.6_Intron|SNRPN_ENST00000400097.1_Intron|SNRPN_ENST00000577565.1_Intron P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N NA NA response to hormone (GO:0009725)|RNA splicing (GO:0008380) small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686) RNA binding (GO:0003723) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) ctggtgatccacccacctcgg 0.517 NA Prader-Willi syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant Familial Cancer Database Prader-Labhart-Willi syndrome L80005 CCDS10017.1 15q11.2 2013-07-16 ENSG00000128739 ENSG00000128739 6638 11164 protein-coding gene gene with protein product tissue-specific splicing protein, SM protein N, small nuclear ribonucleoprotein N 182279 Prader-Willi syndrome chromosome region PWCR NA 1533223 Standard NM_003097 NM_022805 NA Approved SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI uc001ywt.1 P63162 OTTHUMG00000129180 ENST00000554227.2:c.-141A>G chr15.hg19:g.25219949A>G NA B3KVR1|P14648|P17135|Q0D2Q5 hg19 0.02 1.555689 TCCxCCC COVERED NOVEL SNRPN-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000413841.2 9 11.567405 KEEP 0 1 36 51 1585 AA 1 0.999919 0 + 6 60 193 0 0 12.68882 81 60 2343 182 ENST00000554227.2 0.068966 0.999919 SNRPN 6638 __UNKNOWN__ __UNKNOWN__ 15 25219957 25219957 __UNKNOWN__ 5'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:25219957C>T ENST00000554227.2 + 0 801 SNRPN_ENST00000390687.4_Intron|SNURF_ENST00000338094.6_Intron|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400098.1_Intron|SNRPN_ENST00000444203.2_5'UTR|SNRPN_ENST00000400100.1_Intron|SNRPN_ENST00000346403.6_Intron|SNRPN_ENST00000400097.1_Intron|SNRPN_ENST00000577565.1_Intron P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N NA NA response to hormone (GO:0009725)|RNA splicing (GO:0008380) small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686) RNA binding (GO:0003723) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) ccacccacctcggcctcccaa 0.502 NA Prader-Willi syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant Familial Cancer Database Prader-Labhart-Willi syndrome L80005 CCDS10017.1 15q11.2 2013-07-16 ENSG00000128739 ENSG00000128739 6638 11164 protein-coding gene gene with protein product tissue-specific splicing protein, SM protein N, small nuclear ribonucleoprotein N 182279 Prader-Willi syndrome chromosome region PWCR NA 1533223 Standard NM_003097 NM_022805 NA Approved SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI uc001ywt.1 P63162 OTTHUMG00000129180 ENST00000554227.2:c.-133C>T chr15.hg19:g.25219957C>T NA B3KVR1|P14648|P17135|Q0D2Q5 hg19 0.02 2.39985 CCTxGGC COVERED NOVEL SNRPN-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000413841.2 13 16.552313 KEEP 0 0 0 55 1885 CC 1 0.999995 0 + 7 60 185 0 0 10.76163 96 60 3033 212 ENST00000554227.2 0.067961 0.999995 ATP10A 57194 __UNKNOWN__ __UNKNOWN__ 15 25972188 25972188 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:25972188T>A ENST00000356865.6 - 4 959 NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A NA NA ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) tgggcgacagtgcgagactcg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011138 CCDS32178.1 15q12 2010-04-20 2007-09-19 ENSG00000206190 ENSG00000206190 57194 ATPases / P-type 13542 protein-coding gene gene with protein product 605855 ATPase, Class V, type 10C, ATPase, Class V, type 10A ATP10C NA 11015572, 9628581 Standard NM_024490 NM_024490 NA Approved ATPVA, ATPVC, KIAA0566 uc010ayu.3 O60312 ENST00000356865.6:c.847+118A>T chr15.hg19:g.25972188T>A NA Q4G0S9|Q969I4 hg19 CCDS32178.1 0.02 -0.324346 CAGxGCG COVERED NOVEL ATP10A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414830.1 2 2.406141 KEEP 3 0 0 8 227 TT 0.99257 0.829507 0 - 6 60 185 0 0 14.48552 28 60 748 61 ENST00000356865.6 0.176471 0.835716 HERC2 8924 __UNKNOWN__ __UNKNOWN__ 15 28565523 28565523 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:28565523C>G ENST00000261609.7 - 2 181 HERC2_ENST00000563945.1_5'UTR NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 NA NA NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) gcctcccaaactgccgggatt 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF071172 CCDS10021.1 15q13 2012-02-23 2012-02-23 ENSG00000128731 ENSG00000128731 8924 4868 protein-coding gene gene with protein product 605837 hect domain and RLD 2 NA 9949213 Standard NM_004667 NM_004667 NA Approved jdf2, p528, D15F37S1 uc001zbj.4 O95714 OTTHUMG00000129251 ENST00000261609.7:c.72+984G>C chr15.hg19:g.28565523C>G NA hg19 CCDS10021.1 0.02 -0.263166 AAAxTGC COVERED NOVEL HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251358.2 4 3.310989 KEEP 5 0 0 11 407 CC 0.993072 0.712346 0 - 3 60 104 0 0 7.643582 26 60 882 72 ENST00000261609.7 0.103448 0.717315 HERC2 8924 __UNKNOWN__ __UNKNOWN__ 15 28565527 28565527 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:28565527C>T ENST00000261609.7 - 2 181 HERC2_ENST00000563945.1_5'UTR NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 NA NA NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) cccaaactgccgggattacag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF071172 CCDS10021.1 15q13 2012-02-23 2012-02-23 ENSG00000128731 ENSG00000128731 8924 4868 protein-coding gene gene with protein product 605837 hect domain and RLD 2 NA 9949213 Standard NM_004667 NM_004667 NA Approved jdf2, p528, D15F37S1 uc001zbj.4 O95714 OTTHUMG00000129251 ENST00000261609.7:c.72+980G>A chr15.hg19:g.28565527C>T NA hg19 CCDS10021.1 0.02 -0.271541 TGCxGGG COVERED NOVEL HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251358.2 3 3.31052 KEEP 4 0 0 11 372 CC 0.993072 0.712346 0 - 4 60 100 0 0 6.951623 24 60 791 71 ENST00000261609.7 0.142857 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 28709045 28709045 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:28709045A>G NA NA MIR4509-1 (37315 upstream) : MIR4509-3 (26852 downstream) NA NA NA gaccagcctgaccaacatgga 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.28709045A>G NA hg19 0.02 -0.236785 CTGxCCA COVERED NOVEL 0 6 2.406723 KEEP 1 0 0 8 236 AA 0.99257 0.607857 0 3 31 99 0 0 7.294984 23 60 664 48 0.115385 0.612407 APBA2 321 __UNKNOWN__ __UNKNOWN__ 15 29312927 29312927 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:29312927T>C ENST00000558402.1 + 4 559 APBA2_ENST00000561069.1_Intron|APBA2_ENST00000558259.1_Intron|APBA2_ENST00000411764.1_Intron|APBA2_ENST00000558330.1_Intron Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 NA NA in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886) beta-amyloid binding (GO:0001540) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) gcaggagaattgcttgaaccc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014719 CCDS10022.1, CCDS45197.1 15q11-q12 2008-07-18 2008-07-18 ENSG00000034053 ENSG00000034053 321 579 protein-coding gene gene with protein product 602712 X11-like, amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like) X11L, MINT2 NA 8955346 Standard NM_005503 NM_005503 NA Approved D15S1518E, LIN-10, MGC:14091, HsT16821 uc001zck.3 Q99767 OTTHUMG00000129255 ENST00000558402.1:c.-41+24918T>C chr15.hg19:g.29312927T>C NA E9PGI4|O60571|Q5XKC0 hg19 CCDS10022.1 0.02 -0.385742 AATxGCT COVERED NOVEL APBA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251362.3 5 5.113261 KEEP 0 0 0 17 483 TT 0.999859 0.918042 0 + 4 60 120 0 0 8.092997 40 60 1105 74 ENST00000558402.1 0.090909 0.918171 TRPM1 4308 __UNKNOWN__ __UNKNOWN__ 15 31340211 31340211 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:31340211G>A ENST00000256552.6 - 14 1720 TRPM1_ENST00000542188.1_Intron|TRPM1_ENST00000397795.2_Intron NM_001252024.1 NP_001238953.1 transient receptor potential cation channel, subfamily M, member 1 NA NA NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) cacgcctgtagtcccagcact 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 121 105 110 NA NA NA 15 NA NA 31340211 691 1591 2282 SO:0001627 intron_variant AF071787 CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1 15q13.3 2014-01-28 2002-01-18 ENSG00000134160 ENSG00000134160 4308 Voltage-gated ion channels / Transient receptor potential cation channels 7146 protein-coding gene gene with protein product 603576 melastatin 1 MLSN1 NA 9806836, 9537257, 16382100 Standard NM_002420 NM_001252020 NA Approved LTRPC1, CSNB1C uc021sia.1 Q7Z4N2 OTTHUMG00000129267 ENST00000256552.6:c.1573-69C>T chr15.hg19:g.31340211G>A NA hg19 CCDS58346.1 0.02 2.804608 GTAxTCC COVERED NOVEL TRPM1-004 PUTATIVE basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000417166.2 9 3.115098 KEEP 1 3 96 44 1545 GG 1 0.999999 0 - 7 60 188 1 0 10.988535 101 60 3389 215 ENST00000256552.6 0.064815 0.999999 TRPM1 4308 __UNKNOWN__ __UNKNOWN__ 15 31340295 31340295 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:31340295A>G ENST00000256552.6 - 14 1720 TRPM1_ENST00000542188.1_Intron|TRPM1_ENST00000397795.2_Intron NM_001252024.1 NP_001238953.1 transient receptor potential cation channel, subfamily M, member 1 NA NA NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) gtgaaaccccatctctactaa 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF071787 CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1 15q13.3 2014-01-28 2002-01-18 ENSG00000134160 ENSG00000134160 4308 Voltage-gated ion channels / Transient receptor potential cation channels 7146 protein-coding gene gene with protein product 603576 melastatin 1 MLSN1 NA 9806836, 9537257, 16382100 Standard NM_002420 NM_001252020 NA Approved LTRPC1, CSNB1C uc021sia.1 Q7Z4N2 OTTHUMG00000129267 ENST00000256552.6:c.1573-153T>C chr15.hg19:g.31340295A>G NA hg19 CCDS58346.1 0.02 -0.21918 CCCxTCT COVERED NOVEL TRPM1-004 PUTATIVE basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000417166.2 2 2.226874 KEEP 1 1 30 18 513 AA 0.999859 0.55281 0 - 3 60 98 0 0 7.306532 21 60 567 44 ENST00000256552.6 0.125 0.552887 GREM1 26585 __UNKNOWN__ __UNKNOWN__ 15 33025209 33025209 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:33025209A>G ENST00000300177.4 + 0 2507 GREM1_ENST00000322805.4_3'UTR|GREM1_ENST00000560830.1_3'UTR NM_001191322.1|NM_001191323.1|NM_013372.6 NP_001178251.1|NP_001178252.1|NP_037504.1 O60565 GREM1_HUMAN gremlin 1, DAN family BMP antagonist NA NA activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165) extracellular space (GO:0005615) BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184) breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1) 10 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) AGCTGTTTTTATTTCGTTTTT 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10029.1, CCDS53927.1 15q13.3 2014-02-07 2013-02-26 2004-05-07 ENSG00000166923 ENSG00000166923 26585 2001 protein-coding gene gene with protein product 603054 cysteine knot superfamily 1, BMP antagonist 1, gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 1, colorectal adenoma and carcinoma 1 CKTSF1B1, CRAC1 NA 9660951, 10026205, 22561515 Standard NM_013372 NM_013372 NA Approved DRM, gremlin, DAND2, HMPS uc001zhe.2 O60565 OTTHUMG00000129319 ENST00000300177.4:c.*1763A>G chr15.hg19:g.33025209A>G NA Q52LV3|Q8N914|Q8N936 hg19 CCDS10029.1 0.02 -0.333296 TTTxTTT COVERED NOVEL GREM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251455.2 1 3.610685 KEEP 0 0 0 12 368 AA 0.993634 0.84656 0 + 15 60 506 1 0 46.909504 22 60 632 67 ENST00000300177.4 0.405405 0.851984 RYR3 6263 __UNKNOWN__ __UNKNOWN__ 15 33923508 33923508 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:33923508T>C ENST00000389232.4 + 23 2937 RYR3_ENST00000415757.3_Intron NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 NA NA calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGTGATTTTTTTTTTAATGGT 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 48 47 47 NA NA NA 15 NA NA 33923508 1843 4092 5935 SO:0001627 intron_variant CCDS45210.1, CCDS58351.1 15q14-q15 2013-01-10 ENSG00000198838 6263 Ion channels / Ryanodine receptors, EF-hand domain containing 10485 protein-coding gene gene with protein product 180903 NA 8276408 Standard NM_001036 NA Approved uc001zhi.3 Q15413 ENST00000389232.4:c.2867+14T>C chr15.hg19:g.33923508T>C NA O15175|Q15412 hg19 CCDS45210.1 0.02 -0.23682 TTTxTTT COVERED NOVEL RYR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417514.1 1 6.018409 KEEP 0 0 0 20 636 TT 0.999863 0.612323 0 + 9 60 308 0 0 27.631419 18 60 533 65 ENST00000389232.4 0.333333 0.612407 EMC7 56851 __UNKNOWN__ __UNKNOWN__ 15 34384783 34384783 __UNKNOWN__ Intron SNP G G A rs62014675 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:34384783G>A ENST00000256545.4 - 3 465 NM_020154.2 NP_064539.1 Q9NPA0 EMC7_HUMAN ER membrane protein complex subunit 7 NA NA ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) NA tcctgacctcgtgattcacct 0.458 NA G||| 1673 0.334065 0.4849 0.3213 5008 , , NA 12544 0.3373 NA 0.2843 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ245874 CCDS10032.1 15q14 2012-05-30 2012-05-30 2012-05-30 ENSG00000134153 ENSG00000134153 56851 24301 protein-coding gene gene with protein product chromosome 15 open reading frame 24 C15orf24 NA 10873569, 22119785 Standard NM_020154 NM_020154 NA Approved C11orf3 uc001zhm.3 Q9NPA0 OTTHUMG00000129367 ENST00000256545.4:c.357-2127C>T chr15.hg19:g.34384783G>A NA B2RC00|Q96ED5 hg19 CCDS10032.1 0.02 -0.192976 CTCxTGA UNCOVERED NOVEL EMC7-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000251519.1 11 2.407789 KEEP 3 0 0 8 285 GG 0 0 0 - 5 60 152 0 0 12.70175 15 60 495 48 ENST00000256545.4 0.25 0.457757 KATNBL1 79768 __UNKNOWN__ __UNKNOWN__ 15 34440753 34440753 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:34440753T>C ENST00000256544.3 - 5 700 NM_024713.2 NP_078989.1 Q9H079 KTBL1_HUMAN katanin p80 subunit B-like 1 NA NA nucleolus (GO:0005730) NA tgtgccactgtactccaactt 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136908 CCDS10034.1 15q13.2 2012-09-27 2012-09-27 2012-09-27 ENSG00000134152 ENSG00000134152 79768 26199 protein-coding gene gene with protein product chromosome 15 open reading frame 29 C15orf29 NA 11230166 Standard NM_024713 NM_024713 NA Approved FLJ22557 uc001zhp.3 Q9H079 OTTHUMG00000129368 ENST00000256544.3:c.557+79A>G chr15.hg19:g.34440753T>C NA A8KAF6|Q2TAC0|Q9H670 hg19 CCDS10034.1 0.02 3.654735 CTGxACT COVERED NOVEL KATNBL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251520.1 19 7.056134 KEEP 1 1 36 36 1099 TT 1 0.999999 0 - 5 60 178 0 0 11.201351 113 60 3220 242 ENST00000256544.3 0.042373 1 EMC4 51234 __UNKNOWN__ __UNKNOWN__ 15 34521157 34521157 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:34521157A>G ENST00000559421.1 + 3 250 EMC4_ENST00000559078.1_Intron|EMC4_ENST00000249209.4_Intron|EMC4_ENST00000267750.4_Intron Q5J8M3 EMC4_HUMAN ER membrane protein complex subunit 4 NA NA apoptotic process (GO:0006915) ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021) NA ccaaagtgctaggattacagg 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016348 CCDS10035.1, CCDS66732.1 15q14 2012-05-23 2012-05-23 2012-05-23 ENSG00000128463 ENSG00000128463 51234 28032 protein-coding gene gene with protein product transmembrane protein 85 TMEM85 NA 18586032, 22119785 Standard NM_016454 NM_001286420 NA Approved FLJ90746, MGC24415, PIG17 uc001zhq.3 Q5J8M3 OTTHUMG00000129411 ENST00000559421.1:c.202-797A>G chr15.hg19:g.34521157A>G NA A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9 hg19 0.02 3.678633 GCTxGGA COVERED NOVEL EMC4-012 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417985.1 37 4.484455 KEEP 0 2 72 40 1257 AA 1 1 0 + 11 60 388 1 0 27.499712 124 60 3649 297 ENST00000559421.1 0.081481 1 GOLGA8A 23015 __UNKNOWN__ __UNKNOWN__ 15 34800623 34800623 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:34800623T>G ENST00000543376.1 - 8 1158 A7E2F4 GOG8A_HUMAN golgin A8 family, member A NA NA Golgi apparatus (GO:0005794)|membrane (GO:0016020) NA all_lung(180;2.78e-08) all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156) ttgggcagtgtctcacgcctg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648160 CCDS10038.1 15q14 2011-10-25 2010-02-12 ENSG00000175265 ENSG00000175265 23015 31972 protein-coding gene gene with protein product golgi autoantigen, golgin subfamily a, 8A NA 10660574, 10677249 Standard NM_181076 NM_181077 NA Approved GM88, GOLGIN-67 uc001zii.3 A7E2F4 OTTHUMG00000129447 ENST00000543376.1:c.1596+28921A>C chr15.hg19:g.34800623T>G NA A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3 hg19 0.02 1.625551 GTGxCTC COVERED NOVEL GOLGA8A-203 KNOWN basic|appris_candidate protein_coding NA protein_coding 17 10.533621 KEEP 1 2 45 51 1651 TT 1 0.999804 0 - 7 60 240 1 2 16.995563 74 60 2206 202 ENST00000543376.1 0.08642 0.999804 AQR 9716 __UNKNOWN__ __UNKNOWN__ 15 35189020 35189020 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:35189020G>A ENST00000156471.5 - 22 2686 NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor NA NA mRNA splicing, via spliceosome (GO:0000398) catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) actgcactccggcatgggcaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011132 CCDS42013.1 15q13 2013-09-12 2013-09-12 ENSG00000021776 9716 29513 protein-coding gene gene with protein product functional spliceosome-associated protein 164 610548 aquarius homolog (mouse) NA 9626505, 16949364 Standard NM_014691 NM_014691 NA Approved KIAA0560, fSAP164, IBP160 uc001ziv.3 O60306 ENST00000156471.5:c.2460+77C>T chr15.hg19:g.35189020G>A NA A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8 hg19 CCDS42013.1 0.02 3.163022 TCCxGCA COVERED NOVEL AQR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417526.2 21 11.204958 KEEP 0 2 65 60 2005 GG 1 0.999997 0 - 6 60 175 0 1 10.575632 92 60 2959 222 ENST00000156471.5 0.061224 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 35375357 35375357 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:35375357A>C NA NA RP11-463I20.2 (71965 upstream) : RP11-323I15.5 (15865 downstream) NA NA NA gtgctgtgtcaactcagggtt 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.35375357A>C NA hg19 0.02 -0.35049 GTCxACT COVERED NOVEL 0 3 3.896565 KEEP 0 0 0 13 401 AA 0.994391 0.872784 0 6 59 179 0 0 13.672533 31 60 923 53 0.162162 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 35375381 35375381 __UNKNOWN__ IGR SNP C C G rs112904559 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:35375381C>G NA NA RP11-463I20.2 (71989 upstream) : RP11-323I15.5 (15841 downstream) NA NA NA tggattaaggccggtgcaaga 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.35375381C>G NA hg19 0.02 1.724637 AGGxCGG COVERED NOVEL 0 1 7.222766 KEEP 0 0 0 24 843 CC 0.999909 0.973877 0 4 59 131 0 0 9.893745 26 60 877 80 0.133333 0.973965 RP11-323I15.5 0 __UNKNOWN__ __UNKNOWN__ 15 35403229 35403229 __UNKNOWN__ lincRNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:35403229C>T ENST00000559246.1 - 0 74 NA NA NA cggtggctcacgcctgtaatc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000559246.1: chr15.hg19:g.35403229C>T NA hg19 0.02 -0.254385 TCAxGCC COVERED NOVEL RP11-323I15.5-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000417821.1 7 2.708218 KEEP 3 0 0 9 294 CC 0.99254 0.663536 0 - 3 60 90 0 0 6.395573 23 60 761 59 ENST00000559246.1 0.115385 0.668523 RP11-346D14.1 0 __UNKNOWN__ __UNKNOWN__ 15 38459130 38459130 __UNKNOWN__ lincRNA SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:38459130C>A ENST00000561320.1 - 0 222 NA NA NA ctgtaatccccgcactttggg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000561320.1: chr15.hg19:g.38459130C>A NA hg19 0.02 -0.359642 CCCxGCA COVERED NOVEL RP11-346D14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000418240.1 13 2.40782 KEEP 0 0 0 8 279 CC 0.99257 0.882271 0 - 4 60 125 0 0 8.90695 33 60 1091 78 ENST00000561320.1 0.108108 0.888875 SPRED1 161742 __UNKNOWN__ __UNKNOWN__ 15 38647170 38647170 __UNKNOWN__ 3'UTR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:38647170A>T ENST00000299084.4 + 0 5500 NM_152594.2 NP_689807.1 Q7Z699 SPRE1_HUMAN sprouty-related, EVH1 domain containing 1 NA NA inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173) kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) tctctcttttatttgagacgg 0.413 NA Legius syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(196;2146 2959 7698 16532) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Neurofibromatosis type 1 - like syndrome, SPRED1 disorder AK091222 CCDS32193.1 15q14 2014-06-13 ENSG00000166068 ENSG00000166068 161742 20249 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 147 609291 NA Standard NM_152594 NA Approved FLJ33903, PPP1R147 uc001zka.4 Q7Z699 ENST00000299084.4:c.*3305A>T chr15.hg19:g.38647170A>T NA B2RPJ8|Q05D53|Q8N256 hg19 CCDS32193.1 0.02 1.517573 TTTxTTT COVERED NOVEL SPRED1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418217.1 11 7.822658 KEEP 0 0 0 26 791 AA 0.999957 0.973923 0 + 4 60 121 1 1 8.192282 40 60 1136 116 ENST00000299084.4 0.090909 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 39759852 39759852 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:39759852A>G NA NA RP11-624L4.1 (40456 upstream) : RP11-624L4.2 (5051 downstream) NA NA NA cgaggtgcgcagatcacctga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.39759852A>G NA hg19 0.02 -0.149079 CGCxGAT COVERED NOVEL 0 1 2.407353 KEEP 0 0 0 8 253 AA 0.99257 0.289832 0 3 60 88 1 0 7.073462 11 60 327 37 0.214286 0.292001 FSIP1 161835 __UNKNOWN__ __UNKNOWN__ 15 40005668 40005668 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:40005668G>C ENST00000350221.3 - 10 1374 c.1165C>G c.(1165-1167)Ctg>Gtg p.L389V NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 389 NA NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) ATCATTTTCAGCTTTTCATCA 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 224 220 221 NA NA NA 15 NA NA 40005668 2203 4300 6503 SO:0001583 missense BC045191 CCDS10050.1 15q14 2012-11-19 ENSG00000150667 ENSG00000150667 161835 21674 protein-coding gene gene with protein product 615795 NA 14702039 Standard NM_152597 NM_152597 NA Approved FLJ35989 uc001zki.3 Q8NA03 OTTHUMG00000172456 ENST00000350221.3:c.1165C>G chr15.hg19:g.40005668G>C ENSP00000280236:p.Leu389Val NA Q6X2C8|Q86Y89 hg19 CCDS10050.1 0.02 1.13139 TCAxCTT COVERED . . . . . . . . . . G 17.02 3.282911 0.59867 . . ENSG00000150667 ENST00000350221 T 0.67171 -0.25 4.95 3.06 0.35304 . 0.000000 0.47852 D 0.000201 T 0.79112 0.4391 M 0.78801 2.425 0.32714 N 0.511219 D 0.76494 0.999 D 0.83275 0.996 T 0.82450 -0.0451 9 . . . -6.5652 9.7991 0.40753 0.1657:0.0:0.8343:0.0 . 389 Q8NA03 FSIP1_HUMAN V 389 ENSP00000280236:L389V . L - 1 2 FSIP1 37792960 0.999000 0.42202 0.988000 0.46212 0.991000 0.79684 2.009000 0.40903 0.758000 0.33059 0.561000 0.74099 CTG NOVEL FSIP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252118.2 15 19.560355 KEEP 0 0 0 65 2317 GG 1 0.999948 0 - 7 60 218 0 0 14.261215 89 60 3078 221 ENST00000350221.3 0.072917 0.999948 FSIP1 161835 __UNKNOWN__ __UNKNOWN__ 15 40057705 40057705 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:40057705T>A ENST00000350221.3 - 4 675 NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 NA NA NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) tcagcctccctaagtgctggg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC045191 CCDS10050.1 15q14 2012-11-19 ENSG00000150667 ENSG00000150667 161835 21674 protein-coding gene gene with protein product 615795 NA 14702039 Standard NM_152597 NM_152597 NA Approved FLJ35989 uc001zki.3 Q8NA03 OTTHUMG00000172456 ENST00000350221.3:c.465+87A>T chr15.hg19:g.40057705T>A NA Q6X2C8|Q86Y89 hg19 CCDS10050.1 0.02 1.283702 CCCxAAG COVERED NOVEL FSIP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252118.2 17 3.177329 KEEP 2 2 61 32 993 TT 0.999998 0.999892 0 - 5 60 143 2 0 8.581114 75 60 2199 177 ENST00000350221.3 0.0625 0.999895 FSIP1 161835 __UNKNOWN__ __UNKNOWN__ 15 40061207 40061207 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:40061207G>A ENST00000350221.3 - 3 520 NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 NA NA NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) agggccgggcgcggtggctca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC045191 CCDS10050.1 15q14 2012-11-19 ENSG00000150667 ENSG00000150667 161835 21674 protein-coding gene gene with protein product 615795 NA 14702039 Standard NM_152597 NM_152597 NA Approved FLJ35989 uc001zki.3 Q8NA03 OTTHUMG00000172456 ENST00000350221.3:c.310+1420C>T chr15.hg19:g.40061207G>A NA Q6X2C8|Q86Y89 hg19 CCDS10050.1 0.02 -0.192986 GGCxCGG COVERED NOVEL FSIP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252118.2 5 2.70841 KEEP 7 0 0 9 298 GG 0.99254 0.454342 0 - 3 60 90 0 0 6.627436 19 60 632 55 ENST00000350221.3 0.136364 0.457757 RP11-521C20.2 0 __UNKNOWN__ __UNKNOWN__ 15 40370243 40370243 __UNKNOWN__ lincRNA SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:40370243T>G ENST00000560376.1 - 0 47 NA NA NA gggattacagtcatgagccat 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000560376.1: chr15.hg19:g.40370243T>G NA hg19 0.02 1.915077 CAGxCAT COVERED NOVEL RP11-521C20.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000418272.1 8 4.212198 KEEP 0 0 0 14 427 TT 0.995343 0.96943 0 - 5 60 170 0 0 12.240405 47 60 1338 93 ENST00000560376.1 0.096154 0.973965 PAK6 56924 __UNKNOWN__ __UNKNOWN__ 15 40556028 40556028 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:40556028A>G ENST00000542403.2 + 2 106 PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000260404.4_Intron NM_001276717.1 NP_001263646.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 NA NA apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) atgttggccaagctggtctca 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF276893 CCDS10054.1, CCDS61590.1 15q14 2008-06-17 2008-06-17 ENSG00000137843 ENSG00000137843 56924 16061 protein-coding gene gene with protein product 608110 p21(CDKN1A)-activated kinase 6 NA 11278661 Standard NM_020168 NA Approved PAK5 uc001zlb.3 Q9NQU5 OTTHUMG00000129921 ENST00000542403.2:c.-5-954A>G chr15.hg19:g.40556028A>G NA A8K2G2|B3KYB0|G5E9R2 hg19 CCDS10054.1 0.02 1.737296 CCAxGCT COVERED NOVEL PAK6-004 NOVEL alternative_3_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000418355.1 5 7.994488 KEEP 1 2 67 50 1627 AA 1 0.99994 0 + 10 60 334 1 0 24.657692 78 60 2322 163 ENST00000542403.2 0.113636 0.99994 PLCB2 5330 __UNKNOWN__ __UNKNOWN__ 15 40582171 40582171 __UNKNOWN__ Intron SNP T T A rs11268592 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:40582171T>A ENST00000260402.3 - 30 3517 PLCB2_ENST00000456256.2_Intron|PLCB2_ENST00000557821.1_Intron NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 NA NA activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytosol (GO:0005829) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) agagagagagtgtgtgtgtgt 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 154 103 118 NA NA NA 15 NA NA 40582171 692 1591 2283 SO:0001627 intron_variant CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1 15q15.1 2012-01-23 ENSG00000137841 ENSG00000137841 5330 3.1.4.11 9055 protein-coding gene gene with protein product 604114 NA 1644792, 9925923 Standard XM_005254448 NA Approved FLJ38135 uc001zld.3 Q00722 OTTHUMG00000172412 ENST00000260402.3:c.3267+54A>T chr15.hg19:g.40582171T>A NA A8K6J2|B9EGH5 hg19 CCDS42020.1 0.02 2.75536 GAGxGTG COVERED NOVEL PLCB2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000418430.1 39 7.383014 KEEP 7 2 64 47 1350 TT 1 1 0 - 6 70 178 0 0 10.615356 102 70 2816 229 ENST00000260402.3 0.055556 1 CASC5 57082 __UNKNOWN__ __UNKNOWN__ 15 40955102 40955102 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:40955102A>G ENST00000346991.5 + 0 8135 CASC5_ENST00000531626.2_Intron Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 NA NA acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173) acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) aggttgcagtaagccgagacc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF173994 CCDS42023.1, CCDS42024.1 15q14 2013-07-03 ENSG00000137812 ENSG00000137812 57082 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 24054 protein-coding gene gene with protein product cancer/testis antigen 29, kinetochore null 1 homolog (C. elegans), blinkin, bub-linking kinetochore protein, protein phosphatase 1, regulatory subunit 55 609173 NA 10980622, 10780384, 18045986 Standard NM_144508 NM_170589 NA Approved D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7 uc010bbt.1 Q8NG31 OTTHUMG00000166532 ENST00000346991.5:c.*716A>G chr15.hg19:g.40955102A>G NA Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92 hg19 CCDS42023.1 0.02 3.397442 AGTxAGC COVERED NOVEL CASC5-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390224.2 19 7.957526 KEEP 1 1 36 39 1170 AA 1 1 0 + 8 60 260 0 0 16.644988 127 60 3529 262 ENST00000346991.5 0.059259 1 RMDN3 55177 __UNKNOWN__ __UNKNOWN__ 15 41047904 41047904 __UNKNOWN__ 5'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:41047904G>C ENST00000260385.6 - 0 145 Q96TC7 RMD3_HUMAN regulator of microtubule dynamics 3 NA NA apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874) integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634) NA cccgcctcgggctcccaaagt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK001441 CCDS10063.1 15q15.1 2013-01-11 2013-01-11 2013-01-11 ENSG00000137824 ENSG00000137824 55177 25550 protein-coding gene gene with protein product 611873 family with sequence similarity 82, member A2 FAM82C, FAM82A2 NA 12975309 Standard NM_018145 XM_005254531 NA Approved FLJ10579, PTPIP51, RMD3 uc001zmp.1 Q96TC7 OTTHUMG00000130066 ENST00000260385.6:c.-923C>G chr15.hg19:g.41047904G>C NA A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6 hg19 CCDS10063.1 0.02 3.105867 CGGxCTC COVERED NOVEL RMDN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252357.1 3 26.688145 KEEP 0 1 37 102 3410 GG 1 1 0 - 6 60 193 1 0 11.576398 126 60 4071 293 ENST00000260385.6 0.045455 1 SPINT1 6692 __UNKNOWN__ __UNKNOWN__ 15 41137364 41137364 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:41137364C>A ENST00000344051.4 + 2 709 SPINT1_ENST00000562057.1_Intron|SPINT1_ENST00000431806.1_Intron O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 NA NA branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) serine-type endopeptidase inhibitor activity (GO:0004867) central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) tttttttttgcgacggagtct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10067.1, CCDS45231.1 15q13.3 2008-02-05 2005-08-17 ENSG00000166145 ENSG00000166145 6692 11246 protein-coding gene gene with protein product 605123 serine protease inhibitor, Kunitz type 1 NA Standard NM_003710 XM_006720657 NA Approved HAI, MANSC2 uc001zna.3 O43278 OTTHUMG00000130068 ENST00000344051.4:c.475+137C>A chr15.hg19:g.41137364C>A NA Q7Z7D2 hg19 CCDS10067.1 0.02 -0.236789 TTGxGAC COVERED NOVEL SPINT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252359.2 4 3.008615 KEEP 0 0 0 10 314 CC 0.992708 0.607941 0 + 4 60 118 0 0 8.937268 21 60 623 38 ENST00000344051.4 0.16 0.612407 OIP5 11339 __UNKNOWN__ __UNKNOWN__ 15 41622880 41622880 __UNKNOWN__ Intron SNP T T C rs112241976 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:41622880T>C ENST00000220514.3 - 2 449 NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 NA NA cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334) Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) tgattacaggtgtgagccacc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF025441 CCDS10074.1 15q14 2011-02-23 ENSG00000104147 ENSG00000104147 11339 20300 protein-coding gene gene with protein product MIS18 kinetochore protein homolog B (S. pombe), cancer/testis antigen 86 606020 NA 9466265, 17199038 Standard NM_007280 NM_007280 NA Approved MIS18B, hMIS18beta, CT86 uc001znp.3 O43482 OTTHUMG00000130251 ENST00000220514.3:c.389+1232A>G chr15.hg19:g.41622880T>C NA Q96BX7 hg19 CCDS10074.1 0.02 -0.131555 AGGxGTG COVERED NOVEL OIP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252576.2 4 2.407031 KEEP 1 0 0 8 250 AT 0.992708 0.227502 0 - 3 60 91 0 0 7.272722 12 60 357 37 ENST00000220514.3 0.2 0.229173 PLA2G4D 283748 __UNKNOWN__ __UNKNOWN__ 15 42374171 42374171 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:42374171T>C ENST00000290472.3 - 10 878 NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020) metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) ctcttgttgctcaggctggag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB090876 CCDS32203.1 15q14 2008-09-19 ENSG00000159337 283748 3.1.1.4 30038 protein-coding gene gene with protein product 612864 NA 14709560 Standard NM_178034 NM_178034 NA Approved cPLA2delta uc001zox.3 Q86XP0 ENST00000290472.3:c.784-139A>G chr15.hg19:g.42374171T>C NA Q8N176 hg19 CCDS32203.1 0.02 -0.315689 TGCxCAG COVERED NOVEL PLA2G4D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419317.1 7 4.213001 KEEP 2 0 0 14 449 TT 0.995343 0.814653 0 - 3 60 99 1 0 7.144341 26 60 755 54 ENST00000290472.3 0.103448 0.818465 CAPN3 825 __UNKNOWN__ __UNKNOWN__ 15 42684132 42684132 __UNKNOWN__ Intron SNP C C G rs200348982 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:42684132C>G ENST00000349748.3 + 6 1022 CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000397163.3_Intron|CAPN3_ENST00000318023.7_Intron|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Intron NM_173087.1 NP_775110.1 P20807 CAN3_HUMAN calpain 3, (p94) NA NA apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) gaggctgaggcgggtggatca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X85030 CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1 15q15.1 2014-09-17 ENSG00000092529 ENSG00000092529 825 3.4.22.52 EF-hand domain containing 1480 protein-coding gene gene with protein product 114240 LGMD2, LGMD2A NA 2555341, 7720071 Standard NM_024344 NA Approved CANP3, p94, nCL-1 uc001zpn.1 P20807 OTTHUMG00000130619 ENST00000349748.3:c.802-705C>G chr15.hg19:g.42684132C>G NA A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7 hg19 CCDS10085.1 0.02 -0.114036 AGGxGGG UNCOVERED NOVEL CAPN3-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253102.2 11 2.407559 KEEP 5 0 0 8 266 CC 0 0 0 + 3 46 99 0 0 8.281837 10 60 332 29 ENST00000349748.3 0.230769 0.162467 ZNF106 64397 __UNKNOWN__ __UNKNOWN__ 15 42738580 42738580 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:42738580T>A ENST00000565611.1 - 3 1001 ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000263805.4_Intron Q9H2Y7 ZN106_HUMAN zinc finger protein 106 NA NA insulin receptor signaling pathway (GO:0008286) cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NA ggagtttgagtccagcctggg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF205632 CCDS32208.1, CCDS61602.1, CCDS61603.1 15q15.1 2012-11-27 2012-11-27 ENSG00000103994 ENSG00000103994 64397 Zinc fingers, C2H2-type 12886 protein-coding gene gene with protein product SH3-domain binding protein 3 zinc finger protein 106 homolog (mouse) ZFP106 NA Standard NM_022473 XM_005254591 NA Approved ZNF474, SH3BP3 uc001zpw.3 Q9H2Y7 OTTHUMG00000173244 ENST00000565611.1:c.691+206A>T chr15.hg19:g.42738580T>A NA B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8 hg19 0.02 -0.184114 GAGxCCA COVERED NOVEL ZNF106-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000422589.2 3 4.808924 KEEP 0 0 0 16 435 TT 0.997832 0.422559 0 - 4 60 108 0 0 8.682182 13 60 354 38 ENST00000565611.1 0.235294 0.423478 SNAP23 8773 __UNKNOWN__ __UNKNOWN__ 15 42805023 42805023 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:42805023T>C ENST00000564153.1 + 3 151 SNAP23_ENST00000349777.1_Intron|SNAP23_ENST00000397138.1_Intron|SNAP23_ENST00000249647.3_Intron|SNAP23_ENST00000567094.1_Intron O00161 SNP23_HUMAN synaptosomal-associated protein, 23kDa NA NA exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903) azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202) large_intestine(1)|lung(1) 2 all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;2.62e-06) gctgggattataggcatgagc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y09567 CCDS10087.1, CCDS10088.1 15q14 2004-01-19 2002-08-29 ENSG00000092531 ENSG00000092531 8773 11131 protein-coding gene gene with protein product 602534 synaptosomal-associated protein, 23kD NA 9070898, 8663154 Standard NM_003825 NM_003825 NA Approved SNAP23A, SNAP23B, HsT17016 uc001zpz.2 O00161 OTTHUMG00000130625 ENST00000564153.1:c.58-130T>C chr15.hg19:g.42805023T>C NA O00162|Q13602|Q6IAE3 hg19 0.02 1.888793 TTAxAGG COVERED NOVEL SNAP23-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000423107.1 12 8.724771 KEEP 1 0 0 29 870 TT 0.999997 0.981953 0 + 4 60 136 0 0 9.609627 42 60 1161 127 ENST00000564153.1 0.086957 0.981955 LRRC57 255252 __UNKNOWN__ __UNKNOWN__ 15 42835248 42835248 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:42835248C>T ENST00000323443.2 - 0 2120 LRRC57_ENST00000397130.3_3'UTR|LRRC57_ENST00000563454.1_3'UTR Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 NA NA extracellular vesicular exosome (GO:0070062) breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) tttgtattttcagtagagaca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK094891 CCDS10089.1 15q15.1 2006-02-13 ENSG00000180979 ENSG00000180979 255252 26719 protein-coding gene gene with protein product NA Standard NM_153260 NM_153260 NA Approved FLJ36812 uc001zqc.3 Q8N9N7 OTTHUMG00000130679 ENST00000323443.2:c.*1033G>A chr15.hg19:g.42835248C>T NA Q7Z2Z6|Q8N1T6 hg19 CCDS10089.1 0.02 -0.254223 TTTxAGT COVERED NOVEL LRRC57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253174.1 1 4.514374 KEEP 0 0 0 15 505 CC 0.99649 0.666177 0 - 6 60 139 0 0 10.665558 20 60 616 47 ENST00000323443.2 0.230769 0.668523 HAUS2 55142 __UNKNOWN__ __UNKNOWN__ 15 42859349 42859349 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:42859349A>G ENST00000260372.3 + 0 1106 HAUS2_ENST00000568876.1_3'UTR|RP11-265N6.2_ENST00000561902.1_RNA NM_018097.2 NP_060567.1 Q9NVX0 HAUS2_HUMAN HAUS augmin-like complex, subunit 2 NA NA centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634) endometrium(1)|large_intestine(1)|lung(1) 3 tgtaatcctaacacttgggga 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001322 CCDS10090.1, CCDS45247.1 15q15.1 2014-02-20 2009-04-20 2009-04-20 ENSG00000137814 ENSG00000137814 55142 HAUS augmin-like complex subunits 25530 protein-coding gene gene with protein product 613429 chromosome 15 open reading frame 25, centrosomal protein 27kDa C15orf25, CEP27 NA 14702039, 14654843, 19427217 Standard NM_018097 NM_018097 NA Approved FLJ10460, HsT17025 uc001zqe.3 Q9NVX0 OTTHUMG00000130678 ENST00000260372.3:c.*335A>G chr15.hg19:g.42859349A>G NA C9JH36|Q9H9B3 hg19 CCDS10090.1 0.02 -0.245509 CTAxCAC COVERED NOVEL HAUS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253173.1 2 4.512505 KEEP 0 0 0 15 456 AA 0.99649 0.639096 0 + 3 60 94 0 0 6.695268 25 60 710 55 ENST00000260372.3 0.107143 0.641347 HAUS2 55142 __UNKNOWN__ __UNKNOWN__ 15 42859457 42859457 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:42859457A>G ENST00000260372.3 + 0 1214 HAUS2_ENST00000568876.1_3'UTR|RP11-265N6.2_ENST00000561902.1_RNA NM_018097.2 NP_060567.1 Q9NVX0 HAUS2_HUMAN HAUS augmin-like complex, subunit 2 NA NA centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634) endometrium(1)|large_intestine(1)|lung(1) 3 aaattagccgaccatggtggt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001322 CCDS10090.1, CCDS45247.1 15q15.1 2014-02-20 2009-04-20 2009-04-20 ENSG00000137814 ENSG00000137814 55142 HAUS augmin-like complex subunits 25530 protein-coding gene gene with protein product 613429 chromosome 15 open reading frame 25, centrosomal protein 27kDa C15orf25, CEP27 NA 14702039, 14654843, 19427217 Standard NM_018097 NM_018097 NA Approved FLJ10460, HsT17025 uc001zqe.3 Q9NVX0 OTTHUMG00000130678 ENST00000260372.3:c.*443A>G chr15.hg19:g.42859457A>G NA C9JH36|Q9H9B3 hg19 CCDS10090.1 0.02 1.616791 CCGxCCA COVERED NOVEL HAUS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253173.1 9 15.043335 KEEP 0 0 0 50 1561 AA 1 0.999768 0 + 4 60 130 0 0 7.931655 80 60 2372 163 ENST00000260372.3 0.047619 0.999768 HAUS2 55142 __UNKNOWN__ __UNKNOWN__ 15 42859491 42859491 __UNKNOWN__ 3'UTR SNP C C T rs540279648 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:42859491C>T ENST00000260372.3 + 0 1248 HAUS2_ENST00000568876.1_3'UTR|RP11-265N6.2_ENST00000561902.1_RNA NM_018097.2 NP_060567.1 Q9NVX0 HAUS2_HUMAN HAUS augmin-like complex, subunit 2 NA NA centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634) endometrium(1)|large_intestine(1)|lung(1) 3 cccagctattcgggaggctga 0.498 NA .||| 3 0.000599042 0 0.0014 5008 , , NA 18329 0 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001322 CCDS10090.1, CCDS45247.1 15q15.1 2014-02-20 2009-04-20 2009-04-20 ENSG00000137814 ENSG00000137814 55142 HAUS augmin-like complex subunits 25530 protein-coding gene gene with protein product 613429 chromosome 15 open reading frame 25, centrosomal protein 27kDa C15orf25, CEP27 NA 14702039, 14654843, 19427217 Standard NM_018097 NM_018097 NA Approved FLJ10460, HsT17025 uc001zqe.3 Q9NVX0 OTTHUMG00000130678 ENST00000260372.3:c.*477C>T chr15.hg19:g.42859491C>T NA C9JH36|Q9H9B3 hg19 CCDS10090.1 0.02 2.635568 ATTxGGG COVERED NOVEL HAUS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253173.1 14 18.358275 KEEP 0 0 0 61 2059 CC 1 1 0 + 6 60 174 0 0 9.87124 117 60 3766 260 ENST00000260372.3 0.04878 1 TTBK2 146057 __UNKNOWN__ __UNKNOWN__ 15 43175331 43175331 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:43175331A>G ENST00000567274.1 - 2 325 TTBK2_ENST00000567840.1_Intron|TTBK2_ENST00000567485.1_Intron|TTBK2_ENST00000267890.6_Intron Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 NA NA cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224) centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) tgtaatcccaacactttggga 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020654 CCDS42029.1 15q15.2 2014-01-21 ENSG00000128881 ENSG00000128881 146057 19141 protein-coding gene gene with protein product 611695 spinocerebellar ataxia 11 SCA11 NA 10048485 Standard NM_173500 NM_173500 NA Approved KIAA0847 uc001zqo.2 Q6IQ55 OTTHUMG00000175802 ENST00000567274.1:c.67-4449T>C chr15.hg19:g.43175331A>G NA O94932|Q6ZN52|Q8IVV1 hg19 0.02 -0.157872 CCAxCAC UNCOVERED NOVEL TTBK2-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000431432.2 7 2.407377 KEEP 1 0 0 8 256 AA 0 0 0 - 3 60 103 0 0 8.472297 12 60 357 37 ENST00000567274.1 0.2 0.322807 UBR1 197131 __UNKNOWN__ __UNKNOWN__ 15 43326182 43326182 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:43326182G>A ENST00000290650.4 - 20 2269 UBR1_ENST00000382177.2_Intron NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 NA NA cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151) leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) tcacgcctgtgatcccagcac 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10091.1 15q13 2008-06-23 ENSG00000159459 ENSG00000159459 197131 Ubiquitin protein ligase E3 component n-recognins 16808 protein-coding gene gene with protein product 605981 NA 9653112 Standard NM_174916 NM_174916 NA Approved uc001zqq.3 Q8IWV7 OTTHUMG00000130702 ENST00000290650.4:c.2191-1353C>T chr15.hg19:g.43326182G>A NA O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4 hg19 CCDS10091.1 0.02 -0.149103 TGTxATC COVERED NOVEL UBR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253202.1 6 2.407879 KEEP 0 0 0 8 283 GG 0.99257 0.289832 0 - 3 60 80 0 0 6.500939 9 60 304 35 ENST00000290650.4 0.25 0.292001 TUBGCP4 27229 __UNKNOWN__ __UNKNOWN__ 15 43684938 43684938 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:43684938C>A ENST00000564079.1 + 10 1254 TUBGCP4_ENST00000399460.3_Intron|TUBGCP4_ENST00000260383.7_Intron NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461) centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922) structural constituent of cytoskeleton (GO:0005200) breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) ctcaagtgatctgcccgcttc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ249677 CCDS42030.1, CCDS66745.1 15q15.3 2014-08-12 ENSG00000137822 ENSG00000137822 27229 16691 protein-coding gene gene with protein product 609610 NA 10562286 Standard NM_014444 NM_001286414 NA Approved 76P, FLJ14797 uc001zrn.3 Q9UGJ1 OTTHUMG00000176647 ENST00000564079.1:c.1015-2367C>A chr15.hg19:g.43684938C>A NA B3KNK6|Q969X3|Q9NVF0 hg19 CCDS42030.1 0.02 -0.122807 GATxTGC COVERED NOVEL TUBGCP4-002 KNOWN NAGNAG_splice_site|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000432971.1 3 2.407761 KEEP 0 0 0 8 277 CC 0.99257 0.194853 0 + 3 60 85 0 0 7.000923 9 60 309 31 ENST00000564079.1 0.25 0.196312 CATSPER2 117155 __UNKNOWN__ __UNKNOWN__ 15 43922591 43922591 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:43922591T>C ENST00000396879.1 - 0 2007 STRC_ENST00000541030.1_Intron NM_001282309.1 NP_001269238.1 Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 NA NA calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283) CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ctcactctgttgcccaggctg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF411817 CCDS10099.1, CCDS32216.1, CCDS73714.1 15q15.3 2011-07-05 ENSG00000166762 ENSG00000166762 117155 Voltage-gated ion channels / Cation channels, sperm associated 18810 protein-coding gene gene with protein product 607249 NA 11675491, 16382101 Standard NM_054020 NM_172095 NA Approved uc001zsh.3 Q96P56 OTTHUMG00000059902 ENST00000396879.1:c.*308A>G chr15.hg19:g.43922591T>C NA Q8NHT9|Q96P54|Q96P55 hg19 CCDS32216.1 0.02 -0.412132 TGTxGCC COVERED NOVEL CATSPER2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000133150.2 11 5.416296 KEEP 1 0 0 18 562 TT 0.999859 0.941609 0 - 4 60 111 2 0 7.289983 38 60 1104 86 ENST00000396879.1 0.095238 0.941741 CATSPER2 117155 __UNKNOWN__ __UNKNOWN__ 15 43922744 43922744 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:43922744A>G ENST00000396879.1 - 0 1854 STRC_ENST00000541030.1_Intron NM_001282309.1 NP_001269238.1 Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 NA NA calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283) CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) tagtagagacagggtttcacc 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF411817 CCDS10099.1, CCDS32216.1, CCDS73714.1 15q15.3 2011-07-05 ENSG00000166762 ENSG00000166762 117155 Voltage-gated ion channels / Cation channels, sperm associated 18810 protein-coding gene gene with protein product 607249 NA 11675491, 16382101 Standard NM_054020 NM_172095 NA Approved uc001zsh.3 Q96P56 OTTHUMG00000059902 ENST00000396879.1:c.*155T>C chr15.hg19:g.43922744A>G NA Q8NHT9|Q96P54|Q96P55 hg19 CCDS32216.1 0.02 3.440937 GACxGGG COVERED NOVEL CATSPER2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000133150.2 30 6.960511 KEEP 1 4 134 70 2239 AA 1 1 0 - 5 60 169 1 0 10.140981 122 60 3684 333 ENST00000396879.1 0.03937 1 CASC4 113201 __UNKNOWN__ __UNKNOWN__ 15 44706253 44706253 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:44706253T>C ENST00000345795.2 + 0 2062 CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_3'UTR|RP11-516C1.1_ENST00000558047.1_RNA NM_177974.2 NP_816929.1 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) aggctggtcttgaactcctga 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF103804 CCDS10108.1, CCDS10109.1 15q15.1 2010-11-24 ENSG00000166734 ENSG00000166734 113201 24892 protein-coding gene gene with protein product NA 10497265 Standard NM_138423 NM_138423 NA Approved H63, DKFZp459F1927 uc001ztp.3 Q6P4E1 OTTHUMG00000131133 ENST00000345795.2:c.*649T>C chr15.hg19:g.44706253T>C NA B4DPZ6|G5E934|Q6UY45|Q96EM1 hg19 CCDS10109.1 0.02 1.479656 TCTxGAA COVERED NOVEL CASC4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253816.1 8 4.714194 KEEP 0 3 92 48 1428 TT 1 0.999317 0 + 4 60 129 1 0 7.963864 74 60 2011 155 ENST00000345795.2 0.051282 0.999317 CASC4 113201 __UNKNOWN__ __UNKNOWN__ 15 44706304 44706304 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:44706304A>G ENST00000345795.2 + 0 2113 CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_3'UTR|RP11-516C1.1_ENST00000558047.1_RNA NM_177974.2 NP_816929.1 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) aaagtgctggaattccaggca 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF103804 CCDS10108.1, CCDS10109.1 15q15.1 2010-11-24 ENSG00000166734 ENSG00000166734 113201 24892 protein-coding gene gene with protein product NA 10497265 Standard NM_138423 NM_138423 NA Approved H63, DKFZp459F1927 uc001ztp.3 Q6P4E1 OTTHUMG00000131133 ENST00000345795.2:c.*700A>G chr15.hg19:g.44706304A>G NA B4DPZ6|G5E934|Q6UY45|Q96EM1 hg19 CCDS10109.1 0.02 5.364801 TGGxATT COVERED NOVEL CASC4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253816.1 47 12.084248 KEEP 1 5 177 102 3231 AA 1 1 0 + 6 60 205 1 0 12.007875 170 60 5007 436 ENST00000345795.2 0.034091 1 CTDSPL2 51496 __UNKNOWN__ __UNKNOWN__ 15 44751452 44751452 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:44751452A>G ENST00000260327.4 + 2 749 CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558373.1_Intron|CTDSPL2_ENST00000558966.1_Intron NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 NA NA phosphoprotein phosphatase activity (GO:0004721) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) TTggccgggcacggtggctca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161478 CCDS10110.1 15q15.3-q21.1 2010-06-21 ENSG00000137770 ENSG00000137770 51496 Serine/threonine phosphatases / CTD aspartate-based phosphatases 26936 protein-coding gene gene with protein product NA Standard NM_016396 NM_016396 NA Approved HSPC129, FLJ10523 uc001ztr.3 Q05D32 OTTHUMG00000131159 ENST00000260327.4:c.186+54A>G chr15.hg19:g.44751452A>G NA Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030 hg19 CCDS10110.1 0.02 1.833023 GGCxCGG COVERED NOVEL CTDSPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253851.1 3 6.918418 KEEP 0 0 0 23 671 AA 0.999892 0.967321 0 + 4 60 136 0 0 9.531955 44 60 1247 100 ENST00000260327.4 0.083333 0.967425 CTD-2008A1.2 0 __UNKNOWN__ __UNKNOWN__ 15 45123962 45123962 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:45123962G>A ENST00000561384.2 - 0 726 NA NA NA GACTCATTAGGAAGAAAAGAA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000561384.2: chr15.hg19:g.45123962G>A NA hg19 0.02 1.132537 TAGxAAG COVERED NOVEL CTD-2008A1.2-002 PUTATIVE basic processed_transcript NA pseudogene OTTHUMT00000416181.2 2 4.647638 KEEP 4 1 30 26 841 GG 0.999892 0.970716 0 - 9 60 232 0 0 17.097917 43 60 1333 91 ENST00000561384.2 0.173077 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 45233323 45233323 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:45233323A>G NA NA RNU6-1108P (13422 upstream) : C15orf43 (15576 downstream) NA NA NA cagcctgggcaacagtgcgag 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.45233323A>G NA hg19 0.02 1.599389 GGCxACA COVERED NOVEL 0 11 9.627036 KEEP 1 0 0 32 966 AA 0.999997 0.999833 0 4 60 136 0 0 8.488381 82 60 2343 166 0.046512 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 45233328 45233328 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:45233328T>A NA NA RNU6-1108P (13427 upstream) : C15orf43 (15571 downstream) NA NA NA tgggcaacagtgcgagattca 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.45233328T>A NA hg19 0.02 1.176875 CAGxGCG COVERED NOVEL 0 13 9.915846 KEEP 1 0 0 33 981 TT 0.999998 0.999892 0 6 58 184 0 0 11.69912 84 60 2476 168 0.066667 0.999895 DUOXA2 405753 __UNKNOWN__ __UNKNOWN__ 15 45409813 45409813 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:45409813T>C ENST00000323030.5 + 6 1054 DUOXA1_ENST00000267803.4_Missense_Mutation_p.D451G|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Missense_Mutation_p.D406G|DUOXA1_ENST00000559014.1_Missense_Mutation_p.D451G NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 NA NA hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) NA all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) ctttgggaggtcgaggcagga 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 43 43 43 NA NA NA 15 NA NA 45409813 2198 4298 6496 SO:0001627 intron_variant BX537581 CCDS10118.2 15q21.1 2008-10-30 2006-07-25 ENSG00000140274 ENSG00000140274 405753 32698 protein-coding gene gene with protein product 612772 NA 16651268 Standard NM_207581 NM_207581 NA Approved uc001zuo.3 Q1HG44 OTTHUMG00000131354 ENST00000323030.5:c.770-101T>C chr15.hg19:g.45409813T>C NA B2RPI9|H0YNQ6 hg19 CCDS10118.2 0.02 5.17559 AGGxCGA COVERED . . . . . . . . . . T 8.494 0.862698 0.17178 . . ENSG00000140254 ENST00000267803;ENST00000430224 T;T 0.61742 0.51;0.08 3.11 -5.6 0.02497 . . . . . T 0.31796 0.0808 N 0.14661 0.345 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.24548 -1.0157 9 0.87932 D 0 . 3.5718 0.07920 0.3142:0.1879:0.0:0.4979 . 406;451 B5M0C0;A8K9Q6 .;. G 451;406 ENSP00000267803:D451G;ENSP00000415512:D406G ENSP00000267803:D451G D - 2 0 DUOXA1 43197105 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -1.141000 0.03207 -0.735000 0.04837 -0.366000 0.07423 GAC NOVEL DUOXA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254142.1 9 23.324918 KEEP 0 2 55 97 2939 TT 1 1 0 + 8 60 242 0 1 14.021179 180 60 5140 379 ENST00000323030.5 0.042553 1 DUOXA1 90527 __UNKNOWN__ __UNKNOWN__ 15 45412984 45412984 __UNKNOWN__ Silent SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:45412984C>T ENST00000560572.1 - 4 365 c.360G>A c.(358-360)ctG>ctA p.L120L DUOXA1_ENST00000267803.4_Silent_p.L120L|DUOXA1_ENST00000558422.1_Silent_p.L75L|DUOXA1_ENST00000558996.1_Silent_p.L75L|DUOXA1_ENST00000430224.2_Silent_p.L75L|DUOXA1_ENST00000559014.1_Silent_p.L120L NM_001276266.1 NP_001263195.1 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 120 NA hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) TGGTCTCATTCAGCTGCTGCA 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 118 120 119 NA NA NA 15 NA NA 45412984 2198 4298 6496 SO:0001819 synonymous_variant BC029819 CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1 15q21.1 2006-11-29 2006-01-23 2006-07-25 ENSG00000140254 ENSG00000140254 90527 26507 protein-coding gene gene with protein product 612771 NA 16651268 Standard NM_144565 NM_144565 NA Approved FLJ32334, NUMBIP, NIP, mol uc010bec.4 Q1HG43 OTTHUMG00000131352 ENST00000560572.1:c.360G>A chr15.hg19:g.45412984C>T NA Q8N6K9|Q96MI4 hg19 0.02 1.287026 ATTxAGC COVERED NOVEL DUOXA1-005 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000416242.1 0 13.528582 KEEP 0 0 0 45 1586 CC 1 0.996233 0 - 27 60 754 0 0 68.214281 42 60 1404 142 ENST00000560572.1 0.391304 0.996233 SPATA5L1 79029 __UNKNOWN__ __UNKNOWN__ 15 45713154 45713154 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:45713154C>T ENST00000305560.6 + 8 2193 SPATA5L1_ENST00000533841.1_Intron NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 NA NA cytoplasm (GO:0005737) ATP binding (GO:0005524) kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) cgtgccactgcactccagcct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023232 CCDS10123.1 15q15.1 2010-04-21 ENSG00000171763 ENSG00000171763 79029 ATPases / AAA-type 28762 protein-coding gene gene with protein product NA 12477932 Standard NM_024063 NM_024063 NA Approved MGC5347, FLJ12286 uc001zve.3 Q9BVQ7 OTTHUMG00000131425 ENST00000305560.6:c.2095-87C>T chr15.hg19:g.45713154C>T NA C9JHR5|Q9H8W7|Q9HA41 hg19 CCDS10123.1 0.02 -0.342064 CTGxACT COVERED NOVEL SPATA5L1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000254218.1 4 4.213778 KEEP 1 0 0 14 500 CC 0.995343 0.861714 0 + 15 60 412 0 0 37.970621 20 60 692 76 ENST00000305560.6 0.428571 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 46577692 46577692 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:46577692C>T NA NA RP11-718O11.1 (436609 upstream) : SNORD11 (66167 downstream) NA NA NA tttgggaggccgaggtgggcg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.46577692C>T NA hg19 0.02 -0.236837 GGCxGAG COVERED NOVEL 0 6 2.708902 KEEP 1 0 0 9 328 CC 0.99254 0.607839 0 3 60 92 0 0 6.649797 22 60 727 58 0.12 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 48690775 48690775 __UNKNOWN__ IGR SNP C C T rs183815259 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:48690775C>T NA NA DUT (55205 upstream) : FBN1 (9727 downstream) NA NA NA ctcactatgtcgcccaggctg 0.522 NA C||| 1 0.000199681 0 0 5008 , , NA 16056 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.48690775C>T NA hg19 0.02 -0.420968 TGTxGCC COVERED NOVEL 0 11 3.009861 KEEP 0 0 0 10 354 CC 0.992708 0.941486 0 6 60 158 0 0 11.125622 37 60 1175 78 0.139535 0.948402 FBN1 2200 __UNKNOWN__ __UNKNOWN__ 15 48934566 48934566 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:48934566G>C ENST00000316623.5 - 2 620 FBN1_ENST00000560355.1_3'UTR NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 NA NA extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) gagcaagactgtgtctcaaaa 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X63556 CCDS32232.1 15q21.1 2014-09-17 2006-04-25 ENSG00000166147 2200 3603 protein-coding gene gene with protein product Marfan syndrome 134797 fibrillin 1 (Marfan syndrome) FBN, MFS1, WMS NA 10036187, 12525539 Standard NM_000138 NA Approved MASS, OCTD, SGS uc001zwx.2 P35555 ENST00000316623.5:c.164+2236C>G chr15.hg19:g.48934566G>C NA B2RUU0|D2JYH6|Q15972|Q75N87 hg19 CCDS32232.1 0.02 3.792531 ACTxTGT COVERED NOVEL FBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417355.1 21 10.268866 KEEP 0 1 34 46 1624 GG 1 1 0 - 11 60 375 2 0 26.788489 109 60 3684 240 ENST00000316623.5 0.091667 1 FAM227B 196951 __UNKNOWN__ __UNKNOWN__ 15 49688202 49688202 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:49688202A>G ENST00000299338.6 - 12 1316 NM_152647.2 NP_689860.2 Q96M60 F227B_HUMAN family with sequence similarity 227, member B NA NA NA caagatggccaaataggaaca 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32237.1 15q21.2 2012-07-04 2012-07-04 2012-07-04 ENSG00000166262 ENSG00000166262 196951 26543 protein-coding gene gene with protein product chromosome 15 open reading frame 33 C15orf33 NA Standard NM_152647 NM_152647 NA Approved FLJ32800 uc001zxl.2 Q96M60 OTTHUMG00000172328 ENST00000299338.6:c.1013-24606T>C chr15.hg19:g.49688202A>G NA Q86WS2 hg19 CCDS32237.1 0.02 3.581765 GCCxAAT COVERED NOVEL FAM227B-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417872.1 9 10.829013 KEEP 0 0 0 36 1060 AA 0.999999 0.999999 0 - 5 60 173 0 0 10.647537 116 60 3263 247 ENST00000299338.6 0.041322 0.999999 FAM227B 196951 __UNKNOWN__ __UNKNOWN__ 15 49688283 49688283 __UNKNOWN__ Intron SNP A A G rs571234169 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:49688283A>G ENST00000299338.6 - 12 1316 NM_152647.2 NP_689860.2 Q96M60 F227B_HUMAN family with sequence similarity 227, member B NA NA NA ctgaggtaccaggttcatctc 0.582 NA A||| 185 0.0369409 0.0507 0.0317 5008 , , NA 18618 0.0079 NA 0.0437 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32237.1 15q21.2 2012-07-04 2012-07-04 2012-07-04 ENSG00000166262 ENSG00000166262 196951 26543 protein-coding gene gene with protein product chromosome 15 open reading frame 33 C15orf33 NA Standard NM_152647 NM_152647 NA Approved FLJ32800 uc001zxl.2 Q96M60 OTTHUMG00000172328 ENST00000299338.6:c.1013-24687T>C chr15.hg19:g.49688283A>G NA Q86WS2 hg19 CCDS32237.1 0.02 -0.227898 ACCxGGT COVERED NOVEL FAM227B-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417872.1 0 4.202662 KEEP 1 0 0 14 408 AA 0.995343 0.580216 0 - 3 40 93 0 0 6.696181 23 60 613 46 ENST00000299338.6 0.115385 0.58293 GABPB1 2553 __UNKNOWN__ __UNKNOWN__ 15 50574288 50574288 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:50574288A>G ENST00000380877.3 - 9 1423 GABPB1_ENST00000220429.8_Intron|GABPB1_ENST00000543881.1_Intron NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 cagctactcaagaggctgtga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13316 CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1 15q21.2 2013-01-10 2008-02-25 2008-02-25 ENSG00000104064 ENSG00000104064 2553 Ankyrin repeat domain containing 4074 protein-coding gene gene with protein product 600610 GA binding protein transcription factor, beta subunit 2 GABPB2 NA 7958862 Standard NM_016655 NA Approved E4TF1-47, GABPB uc001zyb.3 Q06547 OTTHUMG00000131642 ENST00000380877.3:c.1000-3307T>C chr15.hg19:g.50574288A>G NA A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0 hg19 CCDS10135.1 0.02 -0.201741 TCAxGAG COVERED NOVEL GABPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254537.2 2 5.116168 KEEP 0 0 0 17 561 AA 0.999366 0.490234 0 - 3 60 103 0 0 8.060605 17 60 519 44 ENST00000380877.3 0.15 0.490544 GABPB1 2553 __UNKNOWN__ __UNKNOWN__ 15 50574380 50574380 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:50574380C>G ENST00000380877.3 - 9 1423 GABPB1_ENST00000220429.8_Intron|GABPB1_ENST00000543881.1_Intron NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 ctaggcaacacagtgagaccc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13316 CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1 15q21.2 2013-01-10 2008-02-25 2008-02-25 ENSG00000104064 ENSG00000104064 2553 Ankyrin repeat domain containing 4074 protein-coding gene gene with protein product 600610 GA binding protein transcription factor, beta subunit 2 GABPB2 NA 7958862 Standard NM_016655 NA Approved E4TF1-47, GABPB uc001zyb.3 Q06547 OTTHUMG00000131642 ENST00000380877.3:c.1000-3399G>C chr15.hg19:g.50574380C>G NA A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0 hg19 CCDS10135.1 0.02 3.487674 ACAxAGT COVERED NOVEL GABPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254537.2 26 10.142053 KEEP 2 2 75 60 2027 CC 1 1 0 - 5 60 166 0 0 9.879067 120 60 4002 261 ENST00000380877.3 0.04 1 GABPB1 2553 __UNKNOWN__ __UNKNOWN__ 15 50592910 50592910 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:50592910A>G ENST00000380877.3 - 6 1121 GABPB1_ENST00000220429.8_Intron|GABPB1_ENST00000396464.3_Intron|GABPB1_ENST00000560825.1_Intron|GABPB1_ENST00000429662.2_Intron|GABPB1_ENST00000359031.4_Intron|GABPB1_ENST00000543881.1_Intron NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 ccaaagtgctaggattacagg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13316 CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1 15q21.2 2013-01-10 2008-02-25 2008-02-25 ENSG00000104064 ENSG00000104064 2553 Ankyrin repeat domain containing 4074 protein-coding gene gene with protein product 600610 GA binding protein transcription factor, beta subunit 2 GABPB2 NA 7958862 Standard NM_016655 NA Approved E4TF1-47, GABPB uc001zyb.3 Q06547 OTTHUMG00000131642 ENST00000380877.3:c.697+75T>C chr15.hg19:g.50592910A>G NA A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0 hg19 CCDS10135.1 0.02 3.447908 GCTxGGA COVERED NOVEL GABPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254537.2 17 6.021641 KEEP 1 2 74 46 1377 AA 1 1 0 - 5 60 164 0 0 9.92331 107 70 3016 237 ENST00000380877.3 0.044643 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 50676661 50676661 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:50676661A>G NA NA GABPB1-AS1 (17025 upstream) : USP8 (39917 downstream) NA NA NA agtggctcacacctgtaatcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.50676661A>G NA hg19 0.02 -0.429426 CACxCCT UNCOVERED NOVEL 0 12 2.407545 KEEP 1 0 0 8 259 AA 0 0 0 3 60 100 0 0 6.648958 42 60 1213 90 0.066667 0.954491 USP8 9101 __UNKNOWN__ __UNKNOWN__ 15 50785718 50785718 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:50785718C>G ENST00000425032.3 + 13 2322 USP8_ENST00000307179.4_Intron|USP8_ENST00000433963.1_Intron|USP8_ENST00000396444.3_Intron NM_001283049.1 NP_001269978.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 NA NA cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511) acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) gggaggctgacgtgggcagat 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D29956 CCDS10137.1, CCDS61632.1 15q21.1 2014-03-03 2005-08-08 ENSG00000138592 ENSG00000138592 9101 Ubiquitin-specific peptidases 12631 protein-coding gene gene with protein product 603158 ubiquitin specific protease 8 NA 12838346, 9582025, 24482476 Standard NM_005154 NM_005154 NA Approved HumORF8, KIAA0055, UBPY, SPG59 uc001zyl.4 P40818 OTTHUMG00000131645 ENST00000425032.3:c.2130-549C>G chr15.hg19:g.50785718C>G NA B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7 hg19 0.02 -0.412275 TGAxGTG COVERED NOVEL USP8-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418317.1 5 2.70726 KEEP 0 0 0 9 276 CC 0.99254 0.941327 0 + 4 60 134 0 0 9.448977 41 60 1321 71 ENST00000425032.3 0.088889 0.948402 TRPM7 54822 __UNKNOWN__ __UNKNOWN__ 15 50930243 50930243 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:50930243A>G ENST00000313478.7 - 7 942 TRPM7_ENST00000560955.1_Intron NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 NA NA actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726) ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) gtgaaaccccatctctactaa 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF346629 CCDS42035.1, CCDS73725.1 15q21 2011-12-14 ENSG00000092439 54822 Voltage-gated ion channels / Transient receptor potential cation channels 17994 protein-coding gene gene with protein product 605692 NA 11161216, 11385574, 16382100 Standard NM_017672 XM_005254486 NA Approved CHAK1, LTRPC7, TRP-PLIK uc001zyt.4 Q96QT4 ENST00000313478.7:c.661-453T>C chr15.hg19:g.50930243A>G NA Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2 hg19 CCDS42035.1 0.02 -0.271839 CCCxTCT COVERED NOVEL TRPM7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000418604.1 11 2.708384 KEEP 1 0 0 9 286 AA 0.99254 0.734154 0 - 3 60 95 0 1 6.843354 24 60 690 56 ENST00000313478.7 0.111111 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 51146748 51146748 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:51146748A>G NA NA SPPL2A (88743 upstream) : AP4E1 (54121 downstream) NA NA NA gattacaggcataagccaccg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.51146748A>G NA hg19 0.02 -0.18417 GGCxTAA COVERED NOVEL 0 4 2.708409 KEEP 0 0 0 9 288 AA 0.99254 0.420319 0 3 60 88 0 0 6.793876 14 60 430 43 0.176471 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 51146750 51146750 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:51146750A>G NA NA SPPL2A (88745 upstream) : AP4E1 (54119 downstream) NA NA NA ttacaggcataagccaccgtg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.51146750A>G NA hg19 0.02 -0.184166 CATxAGC COVERED NOVEL 0 4 2.707993 KEEP 0 0 0 9 274 AA 0.99254 0.420319 0 3 60 103 0 0 8.291883 14 60 398 43 0.176471 0.423478 SCG3 29106 __UNKNOWN__ __UNKNOWN__ 15 51988509 51988509 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:51988509A>G ENST00000220478.3 + 8 1388 SCG3_ENST00000542355.2_Intron NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III NA NA blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774) poly(A) RNA binding (GO:0044822) breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) cactttgggaagctgaggcag 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF078851 CCDS10142.1, CCDS53947.1 15q21.2 2013-09-23 ENSG00000104112 ENSG00000104112 29106 13707 protein-coding gene gene with protein product 611796 NA 2053134, 8825061 Standard NM_013243 NM_013243 NA Approved SGIII, FLJ90833 uc002abh.3 Q8WXD2 OTTHUMG00000131748 ENST00000220478.3:c.985+321A>G chr15.hg19:g.51988509A>G NA A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7 hg19 CCDS10142.1 0.02 -0.236832 GGAxGCT COVERED NOVEL SCG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254670.2 10 2.40679 KEEP 1 0 0 8 256 AA 0.99257 0.636582 0 + 3 60 97 0 0 7.09475 23 60 716 54 ENST00000220478.3 0.115385 0.641347 TMOD2 29767 __UNKNOWN__ __UNKNOWN__ 15 52103868 52103868 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:52103868A>G ENST00000249700.4 + 0 4494 NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) NA NA learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426) tropomyosin binding (GO:0005523) cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) TCGTGTGTGTATGTGTGTGTG 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF177169 CCDS10144.1, CCDS45260.1 15q21.2 2008-05-14 ENSG00000128872 ENSG00000128872 29767 11872 protein-coding gene gene with protein product 602928 NA 10662549 Standard NM_014548 NA Approved NTMOD uc002abk.3 Q9NZR1 OTTHUMG00000131805 ENST00000249700.4:c.*3217A>G chr15.hg19:g.52103868A>G NA B4DEW6 hg19 CCDS10144.1 0.02 3.676578 TGTxTGT COVERED NOVEL TMOD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254742.2 17 13.534727 KEEP 0 0 0 45 1341 AA 1 1 0 + 8 60 279 1 0 18.646968 123 60 3383 254 ENST00000249700.4 0.061069 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 52393964 52393964 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:52393964G>C NA NA CTD-2184D3.5 (1244 upstream) : BCL2L10 (7495 downstream) NA NA NA cccggcctccgaaagtgctgg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.52393964G>C NA hg19 0.02 -0.35088 TCCxAAA COVERED NOVEL 0 6 3.009263 KEEP 0 0 0 10 323 GG 0.992708 0.871307 0 3 60 94 0 0 6.350102 33 60 1072 72 0.083333 0.877708 GNB5 10681 __UNKNOWN__ __UNKNOWN__ 15 52414066 52414066 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:52414066A>G ENST00000261837.7 - 0 2141 CTD-2184D3.6_ENST00000559825.1_lincRNA|GNB5_ENST00000396335.4_3'UTR NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 NA NA GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165) nucleus (GO:0005634)|plasma membrane (GO:0005886) chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871) large_intestine(1)|lung(1) 2 all cancers(107;0.0163) tgggattacaagcgtgagcca 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF017656 CCDS10149.1, CCDS45261.1 15q21.1 2013-01-10 ENSG00000069966 ENSG00000069966 10681 WD repeat domain containing 4401 protein-coding gene gene with protein product 604447 NA 9606987 Standard NM_016194 NA Approved GB5 uc031qrz.1 O14775 OTTHUMG00000131892 ENST00000261837.7:c.*888T>C chr15.hg19:g.52414066A>G NA B2RBR5|Q9HAU9|Q9UFT3 hg19 CCDS10149.1 0.02 2.114371 ACAxGCG COVERED NOVEL GNB5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254842.1 10 4.21322 KEEP 9 0 0 14 459 AA 0.993072 0.967218 0 - 5 60 180 0 0 13.283261 46 60 1369 99 ENST00000261837.7 0.098039 0.973965 GNB5 10681 __UNKNOWN__ __UNKNOWN__ 15 52439861 52439861 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:52439861C>G ENST00000261837.7 - 6 483 GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Intron NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 NA NA GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165) nucleus (GO:0005634)|plasma membrane (GO:0005886) chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871) large_intestine(1)|lung(1) 2 all cancers(107;0.0163) tcagctcactccaacatctgc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF017656 CCDS10149.1, CCDS45261.1 15q21.1 2013-01-10 ENSG00000069966 ENSG00000069966 10681 WD repeat domain containing 4401 protein-coding gene gene with protein product 604447 NA 9606987 Standard NM_016194 NA Approved GB5 uc031qrz.1 O14775 OTTHUMG00000131892 ENST00000261837.7:c.418-129G>C chr15.hg19:g.52439861C>G NA B2RBR5|Q9HAU9|Q9UFT3 hg19 CCDS10149.1 0.02 -0.140357 ACTxCAA COVERED NOVEL GNB5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254842.1 3 3.009157 KEEP 0 0 0 10 325 CC 0.992708 0.259062 0 - 3 60 96 0 0 7.872689 11 60 362 32 ENST00000261837.7 0.214286 0.260965 MYO5C 55930 __UNKNOWN__ __UNKNOWN__ 15 52540805 52540805 __UNKNOWN__ Intron SNP T T A rs76586635|rs558996574 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:52540805T>A ENST00000261839.7 - 14 1908 MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC NA NA extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) acacacacacTCTCTCTCTCT 0.373 NA G||| 445 0.0888578 0.0703 0.0562 5008 , , NA 18349 0.1617 NA 0.0636 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF272390 CCDS42036.1 15q21 2011-09-27 ENSG00000128833 55930 Myosins / Myosin superfamily : Class V 7604 protein-coding gene gene with protein product myosin 5C 610022 NA 11870218 Standard NM_018728 NM_018728 NA Approved MGC74969 uc010bff.3 Q9NQX4 ENST00000261839.7:c.1746+91A>T chr15.hg19:g.52540805T>A NA Q6P1W8 hg19 CCDS42036.1 0.02 0.987097 CACxCTC COVERED NOVEL MYO5C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419562.1 4 8.10903 KEEP 0 0 0 27 774 TT 0.999988 0.999869 0 - 6 60 161 2 0 9.568106 79 60 2228 132 ENST00000261839.7 0.070588 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 55412141 55412141 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:55412141T>G NA NA RP11-548M13.1 (27770 upstream) : RSL24D1 (60862 downstream) NA NA NA aggagtttgataccagcctgg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.55412141T>G NA hg19 0.02 -0.359518 TGAxACC COVERED NOVEL 0 8 2.40735 KEEP 1 0 0 8 250 TT 0.99257 0.882271 0 4 60 111 0 0 7.512111 33 60 927 72 0.108108 0.888875 C15orf65 145788 __UNKNOWN__ __UNKNOWN__ 15 55707416 55707416 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:55707416G>A ENST00000569691.1 + 2 239 DYX1C1-CCPG1_ENST00000565113.1_RNA NM_001198784.1 NP_001185713.1 H3BRN8 CO065_HUMAN chromosome 15 open reading frame 65 NA NA NA ctgtaatcccggcactttggg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS58363.1 15q21.3 2013-06-06 ENSG00000261652 ENSG00000261652 145788 44654 protein-coding gene gene with protein product NA Standard NM_001198784 NA Approved FLJ27352 H3BRN8 OTTHUMG00000172679 ENST00000569691.1:c.19-3005G>A chr15.hg19:g.55707416G>A NA hg19 CCDS58363.1 0.02 -0.245606 CCCxGCA COVERED NOVEL C15orf65-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419859.2 8 2.708824 KEEP 2 0 0 9 313 GG 0.99257 0.636582 0 + 4 60 118 0 0 8.936835 21 60 683 53 ENST00000569691.1 0.16 0.641347 DYX1C1 161582 __UNKNOWN__ __UNKNOWN__ 15 55734592 55734592 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:55734592T>C ENST00000321149.3 - 7 1151 DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000348518.3_Intron|DYX1C1_ENST00000457155.2_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Intron NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 NA NA cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) estrogen receptor binding (GO:0030331) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) gctgggattataggcgtgagc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10154.1, CCDS32243.1, CCDS32244.1 15q21.3 2014-09-11 ENSG00000256061 ENSG00000256061 161582 Tetratricopeptide (TTC) repeat domain containing 21493 protein-coding gene gene with protein product 608706 NA 12954984 Standard NM_130810 NM_130810 NA Approved EKN1, FLJ37882, CILD25 uc002adc.3 Q8WXU2 OTTHUMG00000132008 ENST00000321149.3:c.784-2813A>G chr15.hg19:g.55734592T>C NA Q6P5Y9|Q8N1S6 hg19 CCDS10154.1 0.02 3.865931 TTAxAGG COVERED NOVEL DYX1C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254976.1 13 5.550245 KEEP 1 1 39 32 941 TT 0.999998 0.999979 0 - 6 60 209 0 0 14.137569 86 60 2326 191 ENST00000321149.3 0.065217 0.999981 DYX1C1 161582 __UNKNOWN__ __UNKNOWN__ 15 55782894 55782894 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:55782894C>G ENST00000321149.3 - 4 773 DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000348518.3_Intron|DYX1C1_ENST00000457155.2_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Intron NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 NA NA cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) estrogen receptor binding (GO:0030331) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) gctcacgcctctaatcccagc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10154.1, CCDS32243.1, CCDS32244.1 15q21.3 2014-09-11 ENSG00000256061 ENSG00000256061 161582 Tetratricopeptide (TTC) repeat domain containing 21493 protein-coding gene gene with protein product 608706 NA 12954984 Standard NM_130810 NM_130810 NA Approved EKN1, FLJ37882, CILD25 uc002adc.3 Q8WXU2 OTTHUMG00000132008 ENST00000321149.3:c.405+426G>C chr15.hg19:g.55782894C>G NA Q6P5Y9|Q8N1S6 hg19 CCDS10154.1 0.02 1.54644 CCTxTAA COVERED NOVEL DYX1C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254976.1 5 7.159285 KEEP 0 1 35 36 1311 CC 1 0.999939 0 - 5 60 174 0 1 11.378387 86 60 2922 174 ENST00000321149.3 0.054945 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 55828339 55828339 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:55828339A>G NA NA DYX1C1 (27907 upstream) : PYGO1 (2748 downstream) NA NA NA gagccaccgcacccggccTGC 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.55828339A>G NA hg19 0.02 -0.429614 CGCxCCC COVERED NOVEL 0 10 3.609997 KEEP 0 0 0 12 358 AA 0.993634 0.948414 0 3 60 99 0 0 6.518666 43 60 1218 81 0.065217 0.954491 PYGO1 26108 __UNKNOWN__ __UNKNOWN__ 15 55835085 55835085 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:55835085T>C ENST00000302000.6 - 0 4490 NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 NA NA hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055) nucleus (GO:0005634) zinc ion binding (GO:0008270) endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) cgagatctcatcactgcactc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF457207 CCDS10155.1 15q21.1 2013-10-09 2013-10-09 ENSG00000171016 ENSG00000171016 26108 Zinc fingers, PHD-type 30256 protein-coding gene gene with protein product 606902 pygopus homolog 1 (Drosophila) NA 11988739 Standard NM_015617 NM_015617 NA Approved uc002adf.1 Q9Y3Y4 OTTHUMG00000132009 ENST00000302000.6:c.*3136A>G chr15.hg19:g.55835085T>C NA A7Y2D6 hg19 CCDS10155.1 0.02 -0.412158 TCAxCAC COVERED NOVEL PYGO1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000254977.2 4 2.707732 KEEP 0 0 0 9 269 TT 0.99254 0.934716 0 - 4 60 132 0 0 9.419218 37 60 1046 68 ENST00000302000.6 0.097561 0.941741 PRTG 283659 __UNKNOWN__ __UNKNOWN__ 15 55909851 55909851 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:55909851T>G ENST00000389286.4 - 0 5859 NM_173814.4 NP_776175.2 protogenin NA NA breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AGCCTAAAGTTCTATTGTAAC 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098622 CCDS42040.1 15q21.3 2013-02-11 2010-06-24 ENSG00000166450 ENSG00000166450 283659 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 26373 protein-coding gene gene with protein product immunoglobulin superfamily, DCC subclass, member 5 613261 protogenin homolog (Gallus gallus) NA Standard NM_173814 NM_173814 NA Approved FLJ25756, IGDCC5 uc002adg.3 Q2VWP7 ENST00000389286.4:c.*2359A>C chr15.hg19:g.55909851T>G NA hg19 CCDS42040.1 0.02 1.953414 AGTxCTA COVERED NOVEL PRTG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419357.1 1 13.237683 KEEP 0 0 0 44 1365 TT 1 0.989542 0 - 8 60 275 0 0 21.151799 51 60 1456 145 ENST00000389286.4 0.135593 0.989542 TEX9 374618 __UNKNOWN__ __UNKNOWN__ 15 56689874 56689874 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:56689874T>C ENST00000560582.1 + 1 114 TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron|TEX9_ENST00000558083.2_3'UTR Q8N6V9 TEX9_HUMAN testis expressed 9 NA NA cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) ccacccaaatttcatcttgaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028119 CCDS10157.1, CCDS66776.1 15q21.3 2007-03-13 2007-03-13 ENSG00000151575 ENSG00000151575 374618 29585 protein-coding gene gene with protein product testis expressed sequence 9 NA Standard NM_198524 XM_005254361 NA Approved uc002adp.3 Q8N6V9 OTTHUMG00000132035 ENST00000560582.1:c.96+2842T>C chr15.hg19:g.56689874T>C NA B4DH73 hg19 0.02 -0.078918 AATxTCA UNCOVERED NOVEL TEX9-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418850.1 0 2.40696 KEEP 1 0 0 8 244 TT 0.99257 0.076761 0 + 3 60 88 0 0 7.743795 6 60 164 19 ENST00000560582.1 0.333333 0.077336 POLR2M 81488 __UNKNOWN__ __UNKNOWN__ 15 58007561 58007561 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:58007561T>C ENST00000299638.3 + 0 2005 POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_3'UTR NM_015532.3 NP_056347.1 P0CAP2 GRL1A_HUMAN polymerase (RNA) II (DNA directed) polypeptide M NA NA maintenance of ER location (GO:0051685) DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635) DNA-directed RNA polymerase activity (GO:0003899) NA gatggggtcttgctctgtcgc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF326773 CCDS32252.1, CCDS42045.1 15q21.3 2013-01-21 2011-11-07 2011-11-07 ENSG00000255529 81488 RNA polymerase subunits 14862 protein-coding gene gene with protein product 606485 glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A GRINL1A NA 16769904, 22850672 Standard NM_015532 NA Approved Gdown, Gdown1, GCOM1 uc002aev.1 P0CAP2 OTTHUMG00000166486 ENST00000299638.3:c.*684T>C chr15.hg19:g.58007561T>C NA Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6 hg19 CCDS32252.1 0.02 3.280161 TCTxGCT COVERED NOVEL POLR2M-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255719.2 23 7.726447 KEEP 0 6 201 96 2917 TT 1 1 0 + 6 60 200 1 0 12.374263 121 60 3475 330 ENST00000299638.3 0.047244 1 POLR2M 81488 __UNKNOWN__ __UNKNOWN__ 15 58009404 58009404 __UNKNOWN__ 3'UTR SNP C C T rs2414518 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:58009404C>T ENST00000299638.3 + 0 3848 POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_3'UTR NM_015532.3 NP_056347.1 P0CAP2 GRL1A_HUMAN polymerase (RNA) II (DNA directed) polypeptide M NA NA maintenance of ER location (GO:0051685) DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635) DNA-directed RNA polymerase activity (GO:0003899) NA GTTTTTTCTACACTGTCAATA 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF326773 CCDS32252.1, CCDS42045.1 15q21.3 2013-01-21 2011-11-07 2011-11-07 ENSG00000255529 81488 RNA polymerase subunits 14862 protein-coding gene gene with protein product 606485 glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A GRINL1A NA 16769904, 22850672 Standard NM_015532 NA Approved Gdown, Gdown1, GCOM1 uc002aev.1 P0CAP2 OTTHUMG00000166486 ENST00000299638.3:c.*2527C>T chr15.hg19:g.58009404C>T NA Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6 hg19 CCDS32252.1 0.02 0.913139 CTAxACT COVERED NOVEL POLR2M-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255719.2 1 31.868786 KEEP 0 11 294 210 7487 CC 1 0.99911 0 + 7 54 189 0 0 12.110011 69 60 2335 420 ENST00000299638.3 0.092105 0.99911 POLR2M 81488 __UNKNOWN__ __UNKNOWN__ 15 58009517 58009517 __UNKNOWN__ 3'UTR SNP C C T rs376544003 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:58009517C>T ENST00000299638.3 + 0 3961 POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_3'UTR NM_015532.3 NP_056347.1 P0CAP2 GRL1A_HUMAN polymerase (RNA) II (DNA directed) polypeptide M NA NA maintenance of ER location (GO:0051685) DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635) DNA-directed RNA polymerase activity (GO:0003899) NA taaaacagagcttaatgggta 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF326773 CCDS32252.1, CCDS42045.1 15q21.3 2013-01-21 2011-11-07 2011-11-07 ENSG00000255529 81488 RNA polymerase subunits 14862 protein-coding gene gene with protein product 606485 glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A GRINL1A NA 16769904, 22850672 Standard NM_015532 NA Approved Gdown, Gdown1, GCOM1 uc002aev.1 P0CAP2 OTTHUMG00000166486 ENST00000299638.3:c.*2640C>T chr15.hg19:g.58009517C>T NA Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6 hg19 CCDS32252.1 0.02 1.435126 GAGxTTA COVERED NOVEL POLR2M-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255719.2 3 11.434007 KEEP 5 13 437 191 6669 CC 1 0.999678 0 + 6 49 175 0 0 10.988589 78 60 2712 372 ENST00000299638.3 0.071429 0.999678 FAM63B 54629 __UNKNOWN__ __UNKNOWN__ 15 59149470 59149470 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:59149470T>C ENST00000559228.1 + 0 4609 FAM63B_ENST00000450403.2_3'UTR|RP11-30K9.5_ENST00000558042.1_RNA Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B NA NA central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ATTTAGAtcatgcctgtaatc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK075319 CCDS42046.1, CCDS45268.1 15q21.3 2005-08-09 54629 26954 protein-coding gene gene with protein product NA 10574461 Standard NM_019092 NM_001040450 NA Approved KIAA1164 uc002afj.3 Q8NBR6 ENST00000559228.1:c.*2661T>C chr15.hg19:g.59149470T>C NA B2RTT8|Q9ULQ6 hg19 CCDS42046.1 0.02 1.604918 TCAxGCC COVERED NOVEL FAM63B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000416230.1 17 15.167682 KEEP 0 4 127 95 2947 TT 1 0.998993 0 + 4 60 136 0 0 8.986085 61 60 1832 229 ENST00000559228.1 0.061538 0.998993 CA12 771 __UNKNOWN__ __UNKNOWN__ 15 63620481 63620481 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:63620481G>A ENST00000178638.3 - 9 1315 CA12_ENST00000344366.3_Intron|CA12_ENST00000560666.1_Intron|CA12_ENST00000422263.2_Intron NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII NA NA bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909) GCCTGATGAAGTACAGGAAAT 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF051882 CCDS10185.1, CCDS10186.1 15q22 2004-01-19 ENSG00000074410 ENSG00000074410 771 Carbonic anhydrases 1371 protein-coding gene gene with protein product 603263 NA 9636197 Standard NM_001218 NM_001218 NA Approved HsT18816 uc002amc.3 O43570 OTTHUMG00000132881 ENST00000178638.3:c.875-152C>T chr15.hg19:g.63620481G>A NA B2RE24|Q53YE5|Q9BWG2 hg19 CCDS10185.1 0.02 -0.140345 GAAxTAC COVERED NOVEL CA12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256370.1 0 3.309376 KEEP 0 0 0 11 363 GG 0.993072 0.259157 0 - 3 60 94 0 0 7.478891 13 60 420 29 ENST00000178638.3 0.1875 0.260965 SNX22 79856 __UNKNOWN__ __UNKNOWN__ 15 64446963 64446963 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:64446963G>A ENST00000325881.4 + 0 897 NM_024798.2 NP_079074.2 Q96L94 SNX22_HUMAN sorting nexin 22 NA NA protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020) phosphatidylinositol binding (GO:0035091) large_intestine(3)|lung(1)|urinary_tract(2) 6 TCAgccaggcgcggtggctca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024014 CCDS10190.1 15q22.1 2010-01-15 ENSG00000157734 ENSG00000157734 79856 Sorting nexins 16315 protein-coding gene gene with protein product NA 12461558, 17400918 Standard NM_024798 NR_073534 NA Approved FLJ13952 uc002anc.1 Q96L94 OTTHUMG00000132965 ENST00000325881.4:c.*256G>A chr15.hg19:g.64446963G>A NA Q8WUS9|Q9H844 hg19 CCDS10190.1 0.02 -0.245611 GGCxCGG COVERED NOVEL SNX22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256524.2 5 7.524382 KEEP 0 0 0 25 873 GG 0.999931 0.641303 0 + 4 60 120 0 0 8.923509 24 60 784 66 ENST00000325881.4 0.142857 0.641347 SNX22 79856 __UNKNOWN__ __UNKNOWN__ 15 64446974 64446974 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:64446974T>C ENST00000325881.4 + 0 908 NM_024798.2 NP_079074.2 Q96L94 SNX22_HUMAN sorting nexin 22 NA NA protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020) phosphatidylinositol binding (GO:0035091) large_intestine(3)|lung(1)|urinary_tract(2) 6 cggtggctcatgcctgtaatc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024014 CCDS10190.1 15q22.1 2010-01-15 ENSG00000157734 ENSG00000157734 79856 Sorting nexins 16315 protein-coding gene gene with protein product NA 12461558, 17400918 Standard NM_024798 NR_073534 NA Approved FLJ13952 uc002anc.1 Q96L94 OTTHUMG00000132965 ENST00000325881.4:c.*267T>C chr15.hg19:g.64446974T>C NA Q8WUS9|Q9H844 hg19 CCDS10190.1 0.02 -0.245564 TCAxGCC COVERED NOVEL SNX22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256524.2 5 7.221749 KEEP 0 0 0 24 752 TT 0.999909 0.641289 0 + 3 60 103 0 0 7.642425 24 60 703 64 ENST00000325881.4 0.111111 0.641347 SNX22 79856 __UNKNOWN__ __UNKNOWN__ 15 64447518 64447518 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:64447518C>T ENST00000325881.4 + 0 1452 NM_024798.2 NP_079074.2 Q96L94 SNX22_HUMAN sorting nexin 22 NA NA protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020) phosphatidylinositol binding (GO:0035091) large_intestine(3)|lung(1)|urinary_tract(2) 6 gccgagatcgcgccactgcac 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024014 CCDS10190.1 15q22.1 2010-01-15 ENSG00000157734 ENSG00000157734 79856 Sorting nexins 16315 protein-coding gene gene with protein product NA 12461558, 17400918 Standard NM_024798 NR_073534 NA Approved FLJ13952 uc002anc.1 Q96L94 OTTHUMG00000132965 ENST00000325881.4:c.*811C>T chr15.hg19:g.64447518C>T NA Q8WUS9|Q9H844 hg19 CCDS10190.1 0.02 -0.324517 TCGxGCC COVERED NOVEL SNX22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256524.2 4 5.115857 KEEP 1 0 0 17 581 CC 0.999366 0.835186 0 + 4 60 111 0 0 7.720014 29 60 945 73 ENST00000325881.4 0.121212 0.835716 ZNF609 23060 __UNKNOWN__ __UNKNOWN__ 15 64877266 64877266 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:64877266A>G ENST00000326648.3 + 2 875 NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 NA NA nucleus (GO:0005634) metal ion binding (GO:0046872) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 gctcatgcctataatcccagc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014251 CCDS32270.1 15q22.1 2008-05-02 ENSG00000180357 23060 Zinc fingers, C2H2-type 29003 protein-coding gene gene with protein product NA 9205841 Standard XM_042833 NM_015042 NA Approved KIAA0295 uc002ann.3 O15014 ENST00000326648.3:c.748-37760A>G chr15.hg19:g.64877266A>G NA Q0D2I2 hg19 CCDS32270.1 0.02 -0.078901 CCTxTAA UNCOVERED NOVEL ZNF609-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418130.1 1 2.407254 KEEP 0 0 0 8 248 AA 0.99257 0.076761 0 + 3 60 102 0 0 9.144711 6 60 159 25 ENST00000326648.3 0.333333 0.077336 DPP8 54878 __UNKNOWN__ __UNKNOWN__ 15 65740757 65740757 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:65740757C>T ENST00000341861.5 - 20 4155 DPP8_ENST00000321118.7_Intron|DPP8_ENST00000321147.6_Intron|DPP8_ENST00000559233.1_Intron|DPP8_ENST00000300141.6_Intron|DPP8_ENST00000358939.4_Intron|DPP8_ENST00000339244.5_Intron NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 NA NA immune response (GO:0006955)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 atgcctgtaaccccagcactt 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF221634 CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1 15q22 2008-07-18 2006-01-12 ENSG00000074603 ENSG00000074603 54878 16490 protein-coding gene gene with protein product dipeptidyl peptidase VIII, dipeptidyl peptidase IV-related protein-1, prolyl dipeptidase DPP8 606819 dipeptidylpeptidase 8 NA 11012666 Standard NM_017743 XM_005254500 NA Approved DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191 uc002aox.3 Q6V1X1 OTTHUMG00000133150 ENST00000341861.5:c.2575-1413G>A chr15.hg19:g.65740757C>T NA Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4 hg19 CCDS10207.1 0.02 -0.166671 TAAxCCC COVERED NOVEL DPP8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256847.1 8 2.708941 KEEP 1 0 0 9 326 CC 0.99254 0.351306 0 - 3 60 87 0 0 6.692127 14 60 472 44 ENST00000341861.5 0.176471 0.353947 RAB11A 8766 __UNKNOWN__ __UNKNOWN__ 15 66182419 66182419 __UNKNOWN__ 3'UTR SNP G G A rs575365203 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:66182419G>A ENST00000261890.2 + 0 3020 NM_001206836.1|NM_004663.4 NP_001193765.1|NP_004654.1 P62491 RB11A_HUMAN RAB11A, member RAS oncogene family NA NA cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833) axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905) kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 tttttgagacggagtcttgct 0.433 NA G||| 1 0.000199681 0 0 5008 , , NA 12624 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X56740 CCDS10212.1, CCDS58373.1 15q22.31 2008-05-14 ENSG00000103769 ENSG00000103769 8766 RAB, member RAS oncogene 9760 protein-coding gene gene with protein product 605570 NA 1704119, 9662449 Standard NM_004663 NA Approved YL8 uc002apk.3 P62491 OTTHUMG00000133162 ENST00000261890.2:c.*2241G>A chr15.hg19:g.66182419G>A NA B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1 hg19 CCDS10212.1 0.02 -0.201744 GACxGAG COVERED NOVEL RAB11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256864.1 2 3.61115 KEEP 0 0 0 12 399 GG 0.993634 0.487421 0 + 3 60 86 0 0 6.679153 13 60 419 45 ENST00000261890.2 0.1875 0.490544 RPL4 6124 __UNKNOWN__ __UNKNOWN__ 15 66791150 66791150 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:66791150T>C ENST00000307961.6 - 0 1971 NM_000968.3 NP_000959.2 P36578 RL4_HUMAN ribosomal protein L4 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 aggctggtcttgaactcattg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007167 CCDS10218.1 15q22 2011-04-06 ENSG00000174444 ENSG00000174444 6124 L ribosomal proteins 10353 protein-coding gene gene with protein product 60S ribosomal protein L4 180479 NA 9582194, 8268230 Standard NM_000968 NM_000968 NA Approved L4 uc002apv.3 P36578 OTTHUMG00000133193 ENST00000307961.6:c.*595A>G chr15.hg19:g.66791150T>C NA A8K502|P39029|Q4VBR0|Q969Z9 hg19 CCDS10218.1 0.02 -0.23676 TCTxGAA COVERED NOVEL RPL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256903.2 4 4.814182 KEEP 0 0 0 16 486 TT 0.997832 0.611079 0 - 3 60 99 0 0 7.349313 22 60 617 51 ENST00000307961.6 0.12 0.612407 RP11-798K3.4 0 __UNKNOWN__ __UNKNOWN__ 15 67223820 67223820 __UNKNOWN__ lincRNA SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:67223820C>A ENST00000559904.1 + 0 150 NA NA NA aaaacaaaaacaaaaacagaa 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000559904.1: chr15.hg19:g.67223820C>A NA hg19 0.02 1.37106 AAAxAAA COVERED NOVEL RP11-798K3.4-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000417722.1 16 15.950746 KEEP 0 0 0 53 1864 CC 1 0.999407 0 + 5 60 145 1 0 8.919572 70 60 2368 180 ENST00000559904.1 0.066667 0.999407 PIAS1 8554 __UNKNOWN__ __UNKNOWN__ 15 68410402 68410402 __UNKNOWN__ Intron SNP C C T rs145658469 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:68410402C>T ENST00000249636.6 + 3 617 PIAS1_ENST00000545237.1_Intron NM_016166.1 NP_057250.1 O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 NA NA androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1) 24 cagtggctcacgcctgtaatc 0.527 NA C||| 14 0.00279553 0 0.0086 5008 , , NA 16641 0 NA 0.008 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF077951 CCDS45290.1 15q 2011-10-11 2002-04-19 2002-04-19 ENSG00000033800 8554 Zinc fingers, MIZ-type 2752 protein-coding gene gene with protein product zinc finger, MIZ-type containing 3 603566 DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1 DDXBP1 NA 9724754, 9177271 Standard XM_005254735 NA Approved GBP, GU/RH-II, ZMIZ3 uc002aqz.3 O75925 ENST00000249636.6:c.470-23882C>T chr15.hg19:g.68410402C>T NA B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02 hg19 CCDS45290.1 0.02 -0.184213 TCAxGCC COVERED NOVEL PIAS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419642.2 4 2.70872 KEEP 0 0 0 9 306 CC 0.99254 0.420319 0 + 3 60 96 0 0 7.510035 15 60 487 43 ENST00000249636.6 0.166667 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 69399264 69399264 __UNKNOWN__ IGR SNP C C T rs4776430 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:69399264C>T NA NA RP11-809H16.5 (6989 upstream) : GLCE (53708 downstream) NA NA NA tgcggtgagccgagatcgcac 0.502 NA C||| 1958 0.390974 0.0673 0.5144 5008 , , NA 15115 0.5258 NA 0.5706 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.69399264C>T NA hg19 0.02 -0.201759 AGCxGAG UNCOVERED NOVEL 0 25 2.96326 KEEP 26 0 0 10 310 CC 0 0 0 6 60 180 0 0 17.56943 5 40 168 72 0.545455 0.490544 PAQR5 54852 __UNKNOWN__ __UNKNOWN__ 15 69684311 69684311 __UNKNOWN__ Intron SNP G G A rs559054558 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:69684311G>A ENST00000340965.3 + 6 1180 PAQR5_ENST00000395407.2_Intron|PAQR5_ENST00000561153.1_Intron|RP11-253M7.6_ENST00000560870.1_RNA NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V NA NA multicellular organismal development (GO:0007275)|oogenesis (GO:0048477) integral component of membrane (GO:0016021) receptor activity (GO:0004872)|steroid binding (GO:0005496) endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 caggagaatcgcttgaaccca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10232.1 15q22.31 2012-08-10 ENSG00000137819 ENSG00000137819 54852 29645 protein-coding gene gene with protein product membrane progestin receptor gamma 607781 NA 12574519 Standard NM_017705 NM_001104554 NA Approved FLJ20190, MPRG uc002arz.2 Q9NXK6 OTTHUMG00000133322 ENST00000340965.3:c.512+2192G>A chr15.hg19:g.69684311G>A NA Q8IXU2 hg19 CCDS10232.1 0.02 3.129464 ATCxCTT COVERED NOVEL PAQR5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416671.1 6 6.871365 KEEP 0 1 11 27 860 GG 0.999997 0.999996 0 + 6 60 170 0 0 10.172777 89 60 2708 171 ENST00000340965.3 0.063158 0.999999 PAQR5 54852 __UNKNOWN__ __UNKNOWN__ 15 69698945 69698945 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:69698945T>C ENST00000340965.3 + 0 4445 PAQR5_ENST00000395407.2_3'UTR|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V NA NA multicellular organismal development (GO:0007275)|oogenesis (GO:0048477) integral component of membrane (GO:0016021) receptor activity (GO:0004872)|steroid binding (GO:0005496) endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 cagtggctcatgcctgtaatc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10232.1 15q22.31 2012-08-10 ENSG00000137819 ENSG00000137819 54852 29645 protein-coding gene gene with protein product membrane progestin receptor gamma 607781 NA 12574519 Standard NM_017705 NM_001104554 NA Approved FLJ20190, MPRG uc002arz.2 Q9NXK6 OTTHUMG00000133322 ENST00000340965.3:c.*2784T>C chr15.hg19:g.69698945T>C NA Q8IXU2 hg19 CCDS10232.1 0.02 9.267696 TCAxGCC COVERED NOVEL PAQR5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416671.1 44 15.343053 KEEP 1 3 97 85 2597 TT 1 1 0 + 12 60 399 0 0 24.798756 235 60 6882 516 ENST00000340965.3 0.048583 1 PAQR5 54852 __UNKNOWN__ __UNKNOWN__ 15 69698976 69698976 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:69698976A>G ENST00000340965.3 + 0 4476 PAQR5_ENST00000395407.2_3'UTR|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V NA NA multicellular organismal development (GO:0007275)|oogenesis (GO:0048477) integral component of membrane (GO:0016021) receptor activity (GO:0004872)|steroid binding (GO:0005496) endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 gggaggctgaagtgggaggac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10232.1 15q22.31 2012-08-10 ENSG00000137819 ENSG00000137819 54852 29645 protein-coding gene gene with protein product membrane progestin receptor gamma 607781 NA 12574519 Standard NM_017705 NM_001104554 NA Approved FLJ20190, MPRG uc002arz.2 Q9NXK6 OTTHUMG00000133322 ENST00000340965.3:c.*2815A>G chr15.hg19:g.69698976A>G NA Q8IXU2 hg19 CCDS10232.1 0.02 7.323632 TGAxGTG COVERED NOVEL PAQR5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416671.1 50 9.971577 KEEP 1 4 140 82 2642 AA 1 1 0 + 9 60 292 0 0 17.087621 217 60 6467 469 ENST00000340965.3 0.039823 1 PAQR5 54852 __UNKNOWN__ __UNKNOWN__ 15 69699722 69699722 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:69699722G>C ENST00000340965.3 + 0 5222 PAQR5_ENST00000395407.2_3'UTR|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V NA NA multicellular organismal development (GO:0007275)|oogenesis (GO:0048477) integral component of membrane (GO:0016021) receptor activity (GO:0004872)|steroid binding (GO:0005496) endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 tctgcctcaggctcccaaagt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10232.1 15q22.31 2012-08-10 ENSG00000137819 ENSG00000137819 54852 29645 protein-coding gene gene with protein product membrane progestin receptor gamma 607781 NA 12574519 Standard NM_017705 NM_001104554 NA Approved FLJ20190, MPRG uc002arz.2 Q9NXK6 OTTHUMG00000133322 ENST00000340965.3:c.*3561G>C chr15.hg19:g.69699722G>C NA Q8IXU2 hg19 CCDS10232.1 0.02 1.865435 CAGxCTC COVERED NOVEL PAQR5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416671.1 8 5.11655 KEEP 0 0 0 17 592 GG 0.999366 0.996531 0 + 6 60 202 0 2 14.254226 62 60 2055 115 ENST00000340965.3 0.088235 0.997163 PAQR5 54852 __UNKNOWN__ __UNKNOWN__ 15 69699748 69699748 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:69699748A>G ENST00000340965.3 + 0 5248 PAQR5_ENST00000395407.2_3'UTR|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V NA NA multicellular organismal development (GO:0007275)|oogenesis (GO:0048477) integral component of membrane (GO:0016021) receptor activity (GO:0004872)|steroid binding (GO:0005496) endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 gattacaggcatgagccacac 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10232.1 15q22.31 2012-08-10 ENSG00000137819 ENSG00000137819 54852 29645 protein-coding gene gene with protein product membrane progestin receptor gamma 607781 NA 12574519 Standard NM_017705 NM_001104554 NA Approved FLJ20190, MPRG uc002arz.2 Q9NXK6 OTTHUMG00000133322 ENST00000340965.3:c.*3587A>G chr15.hg19:g.69699748A>G NA Q8IXU2 hg19 CCDS10232.1 0.02 1.640095 GGCxTGA COVERED NOVEL PAQR5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416671.1 5 5.389236 KEEP 0 0 0 18 535 AA 0.999859 0.998325 0 + 5 60 147 0 0 9.387385 62 60 1808 116 ENST00000340965.3 0.074627 0.998465 UACA 55075 __UNKNOWN__ __UNKNOWN__ 15 70960076 70960076 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:70960076C>A ENST00000322954.6 - 16 3132 c.2947G>T c.(2947-2949)Gta>Tta p.V983L UACA_ENST00000539319.1_Missense_Mutation_p.V874L|UACA_ENST00000560441.1_Missense_Mutation_p.V968L|UACA_ENST00000379983.2_Missense_Mutation_p.V970L NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 983 NA intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411) apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GCGTATTTTACCTTAATGCAT 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 185 170 175 NA NA NA 15 NA NA 70960076 2199 4298 6497 SO:0001583 missense AF322916 CCDS10235.1, CCDS32280.1 15q22-q24 2013-01-10 ENSG00000137831 ENSG00000137831 55075 Ankyrin repeat domain containing 15947 protein-coding gene gene with protein product 612516 NA 11162650, 10997877 Standard NM_001008224 NA Approved FLJ10128, KIAA1561 uc002asr.3 Q9BZF9 OTTHUMG00000133363 ENST00000322954.6:c.2947G>T chr15.hg19:g.70960076C>A ENSP00000314556:p.Val983Leu NA G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6 hg19 CCDS10235.1 0.02 3.177681 TTAxCTT COVERED . . . . . . . . . . C 4.399 0.073673 0.08485 . . ENSG00000137831 ENST00000322954;ENST00000379983;ENST00000539319 T;T;T 0.31769 1.48;1.5;1.99 5.95 3.06 0.35304 . 0.448988 0.18977 N 0.125966 T 0.06371 0.0164 N 0.00138 -2.015 0.20196 N 0.999924 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.04013 0.0;0.0;0.0;0.001 T 0.33369 -0.9871 10 0.24483 T 0.36 -1.578 6.6989 0.23215 0.1797:0.4439:0.3764:0.0 . 874;983;983;970 F5H2B9;B7ZKM6;Q9BZF9;G3XAG2 .;.;UACA_HUMAN;. L 983;970;874 ENSP00000314556:V983L;ENSP00000369319:V970L;ENSP00000438667:V874L ENSP00000314556:V983L V - 1 0 UACA 68747130 1.000000 0.71417 0.692000 0.30179 0.888000 0.51559 3.290000 0.51755 0.405000 0.25532 -0.165000 0.13383 GTA NOVEL UACA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257199.2 3 28.59172 KEEP 0 0 0 95 3361 CC 1 1 0 - 65 60 1891 0 0 179.476084 70 60 2355 323 ENST00000322954.6 0.481481 1 LRRC49 54839 __UNKNOWN__ __UNKNOWN__ 15 71165490 71165490 __UNKNOWN__ 5'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:71165490T>C ENST00000544974.2 + 0 475 NM_001284357.1 NP_001271286.1 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 NA NA cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 tcccaaagtgttgggattaca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1 15q23 2005-08-09 ENSG00000137821 54839 25965 protein-coding gene gene with protein product NA 12477932 Standard NM_017691 NM_001199017 NA Approved FLJ20156 uc010ukf.2 Q8IUZ0 ENST00000544974.2:c.-55T>C chr15.hg19:g.71165490T>C NA B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6 hg19 0.02 7.921177 GTGxTGG COVERED NOVEL LRRC49-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000417202.1 22 11.629743 KEEP 1 3 89 70 2120 TT 1 1 0 + 10 60 343 1 0 22.049143 181 60 5222 432 ENST00000544974.2 0.052356 1 THSD4 79875 __UNKNOWN__ __UNKNOWN__ 15 71578699 71578699 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:71578699A>G ENST00000355327.3 + 6 1149 THSD4_ENST00000261862.6_Intron Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 NA NA elastic fiber assembly (GO:0048251) extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527) metalloendopeptidase activity (GO:0004222) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ccctctatgtatccatgtgtt 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023772 CCDS10238.2, CCDS66817.1 15q23 2009-11-09 ENSG00000187720 ENSG00000187720 79875 25835 protein-coding gene gene with protein product 614476 NA 19734141 Standard NM_024817 NM_001286429 NA Approved FVSY9334, PRO34005, FLJ13710, ADAMTSL6 uc002atb.1 Q6ZMP0 OTTHUMG00000133389 ENST00000355327.3:c.1015+29645A>G chr15.hg19:g.71578699A>G NA B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4 hg19 CCDS10238.2 0.02 1.687109 TGTxTCC COVERED NOVEL THSD4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257253.2 18 6.619863 KEEP 1 0 0 22 682 AA 0.999879 0.999097 0 + 4 60 130 0 0 8.231856 67 60 1893 148 ENST00000355327.3 0.056338 0.999218 MYO9A 4649 __UNKNOWN__ __UNKNOWN__ 15 72248430 72248430 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:72248430A>G ENST00000564571.1 - 14 2342 MYO9A_ENST00000563542.1_Intron|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000356056.5_Intron|MYO9A_ENST00000424560.1_Intron|MYO9A_ENST00000444904.1_Intron B2RTY4 MYO9A_HUMAN myosin IXA NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461) ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774) NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 aggatcacttaaggccaggag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF117888 CCDS10239.1 15q22-q23 2011-09-27 ENSG00000066933 ENSG00000066933 4649 Myosins / Myosin superfamily : Class IX 7608 protein-coding gene gene with protein product 604875 NA 10409426 Standard NM_006901 NM_006901 NA Approved FLJ11061, FLJ13244, MGC71859 uc002atl.5 B2RTY4 OTTHUMG00000133440 ENST00000564571.1:c.2182+3811T>C chr15.hg19:g.72248430A>G NA B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2 hg19 0.02 -0.271834 CTTxAGG COVERED NOVEL MYO9A-015 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000420905.1 6 3.00858 KEEP 0 0 0 10 303 AA 0.992708 0.734278 0 - 3 60 95 0 0 6.794114 25 60 684 63 ENST00000564571.1 0.107143 0.739671 HIGD2B 123346 __UNKNOWN__ __UNKNOWN__ 15 72968784 72968784 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:72968784A>C ENST00000311755.3 - 3 511 Q4VC39 HIG2B_HUMAN HIG1 hypoxia inducible domain family, member 2B NA NA integral component of membrane (GO:0016021) NA cttgctctgtagcccaggctg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC040890 15q24.1 2014-04-01 2011-08-04 2009-03-18 ENSG00000175202 ENSG00000175202 123346 26984 other unknown HIG1 hypoxia inducible domain family, member 2B (pseudogene) HIGD2BP NA Standard NM_001017925 NR_002780 NA Approved uc002ava.3 Q4VC39 OTTHUMG00000172776 ENST00000311755.3:c.13-56T>G chr15.hg19:g.72968784A>C NA hg19 0.02 1.710252 TGTxGCC COVERED NOVEL HIGD2B-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000420413.2 6 5.114232 KEEP 1 0 0 17 507 AT 0.99986 0.99806 0 - 6 60 183 1 0 12.9874 48 70 1375 109 ENST00000311755.3 0.111111 0.9982 HCN4 10021 __UNKNOWN__ __UNKNOWN__ 15 73635918 73635918 __UNKNOWN__ Missense_Mutation SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:73635918T>A ENST00000261917.3 - 2 2010 c.1017A>T c.(1015-1017)aaA>aaT p.K339N NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 339 NA blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195) cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGAACCAGCTTTTCAGGTACT 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 105 92 96 NA NA NA 15 NA NA 73635918 2198 4297 6495 SO:0001583 missense AJ132429 CCDS10248.1 15q24.1 2011-07-05 ENSG00000138622 ENSG00000138622 10021 Voltage-gated ion channels / Cyclic nucleotide-regulated channels 16882 protein-coding gene gene with protein product 605206 NA 10228147, 10430953, 16382102 Standard NM_005477 NM_005477 NA Approved uc002avp.3 Q9Y3Q4 OTTHUMG00000137563 ENST00000261917.3:c.1017A>T chr15.hg19:g.73635918T>A ENSP00000261917:p.Lys339Asn NA Q9UMQ7 hg19 CCDS10248.1 0.02 2.765181 GCTxTTC COVERED . . . . . . . . . . T 17.34 3.365808 0.61513 . . ENSG00000138622 ENST00000261917 D 0.95656 -3.77 5.34 -7.06 0.01568 Ion transport (1); . . . . D 0.97458 0.9168 M 0.91818 3.245 0.34153 D 0.667816 D 0.76494 0.999 D 0.68943 0.961 D 0.99177 1.0866 9 0.72032 D 0.01 . 15.3143 0.74062 0.0:0.7453:0.1186:0.1361 . 339 Q9Y3Q4 HCN4_HUMAN N 339 ENSP00000261917:K339N ENSP00000261917:K339N K - 3 2 HCN4 71422971 0.996000 0.38824 0.862000 0.33874 0.938000 0.57974 0.397000 0.20883 -1.217000 0.02604 -0.899000 0.02877 AAA NOVEL HCN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268900.2 2 12.037058 KEEP 0 0 0 40 1288 TT 1 0.999984 0 - 26 60 709 0 0 58.040942 77 60 2203 177 ENST00000261917.3 0.252427 0.999984 CD276 80381 __UNKNOWN__ __UNKNOWN__ 15 73990198 73990198 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:73990198A>G ENST00000318443.5 + 2 248 CD276_ENST00000537340.2_Intron|CD276_ENST00000318424.5_Intron|CD276_ENST00000561213.1_Intron NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule NA NA cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) receptor binding (GO:0005102) endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 atgagccaccacacccagcca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF302102 CCDS10251.1, CCDS32288.1 15q23-q24 2013-01-11 2006-03-28 ENSG00000103855 ENSG00000103855 80381 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing 19137 protein-coding gene gene with protein product 605715 CD276 antigen NA 11224528, 12055244 Standard NM_025240 XM_005254699 NA Approved B7-H3, B7H3, B7RP-2 uc002avv.1 Q5ZPR3 OTTHUMG00000137585 ENST00000318443.5:c.-54-1729A>G chr15.hg19:g.73990198A>G NA Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1 hg19 CCDS32288.1 0.02 -0.271832 ACCxCAC COVERED NOVEL CD276-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268979.1 10 2.707481 KEEP 2 0 0 9 269 AA 0.99254 0.711964 0 + 4 60 133 0 0 10.094377 26 60 751 62 ENST00000318443.5 0.133333 0.717315 GOLGA6A 342096 __UNKNOWN__ __UNKNOWN__ 15 74372981 74372981 __UNKNOWN__ Silent SNP G G A rs201579908 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:74372981G>A ENST00000290438.3 - 2 220 c.180C>T c.(178-180)tcC>tcT p.S60S NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 60 NA Golgi apparatus (GO:0005794) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 GGCAACCACCGGAAGTGGTTG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 38 35 36 NA NA NA 15 NA NA 74372981 2196 4278 6474 SO:0001819 synonymous_variant AF263742 CCDS32290.1 15q24.1 2013-05-10 2010-02-12 2009-09-28 ENSG00000159289 ENSG00000159289 342096 13567 protein-coding gene gene with protein product 610288 golgi autoantigen, golgin subfamily a, member 6, golgi autoantigen, golgin subfamily a, 6, golgi autoantigen, golgin subfamily a, 6A GOLGA6 NA 11161787 Standard XM_292357 NM_001038640 NA Approved GLP uc002axa.1 Q9NYA3 OTTHUMG00000173035 ENST00000290438.3:c.180C>T chr15.hg19:g.74372981G>A NA A8K959|Q9NYA7 hg19 CCDS32290.1 0.02 -0.403498 ACCxGAA COVERED NOVEL GOLGA6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421835.1 2 5.415028 KEEP 4 0 0 18 601 GG 0.997832 0.932466 0 - 18 45 545 0 0 49.714566 28 47 919 95 ENST00000290438.3 0.391304 0.934492 LMAN1L 79748 __UNKNOWN__ __UNKNOWN__ 15 75108962 75108962 __UNKNOWN__ Intron SNP C C A rs370635758 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:75108962C>A ENST00000309664.5 + 4 577 LMAN1L_ENST00000379709.3_Intron NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like NA NA integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTGCTTCTCACCTCCCTGCAG 0.667 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 72 65 67 NA NA NA 15 NA NA 75108962 2197 4296 6493 SO:0001627 intron_variant AF303398 CCDS10270.1 15q24.1 2005-08-05 ENSG00000140506 ENSG00000140506 79748 6632 protein-coding gene gene with protein product 609548 NA 11255007 Standard NM_021819 NA Approved ERGL, ERGIC-53L uc002ayt.1 Q9HAT1 OTTHUMG00000142813 ENST00000309664.5:c.439-11C>A chr15.hg19:g.75108962C>A NA Q6UWN2 hg19 CCDS10270.1 0.02 10.302081 TCAxCTC COVERED NOVEL LMAN1L-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286397.4 2 23.172421 KEEP 0 0 0 77 2629 CC 1 1 0 + 58 60 1602 0 0 117.590561 320 60 10632 612 ENST00000309664.5 0.153439 1 MPI 4351 __UNKNOWN__ __UNKNOWN__ 15 75191107 75191107 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:75191107T>C ENST00000352410.4 + 0 2375 MPI_ENST00000566377.1_3'UTR P34949 MPI_HUMAN mannose phosphate isomerase NA NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270) endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 gtctcgatcttctgacctcgt 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1 15q24.1 2013-09-19 ENSG00000178802 ENSG00000178802 4351 5.3.1.8 7216 protein-coding gene gene with protein product mannose-6-phosphate isomerase 154550 NA Standard NM_002435 NA Approved uc002azc.1 P34949 OTTHUMG00000142826 ENST00000352410.4:c.*1036T>C chr15.hg19:g.75191107T>C NA A8K8K9|Q96AB0 hg19 CCDS10272.1 0.02 -0.420831 TCTxCTG COVERED NOVEL MPI-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286418.4 4 3.906846 KEEP 3 0 0 13 375 TT 0.994391 0.943082 0 + 3 42 98 1 0 6.390146 44 60 1199 74 ENST00000352410.4 0.06383 0.948402 C15orf39 56905 __UNKNOWN__ __UNKNOWN__ 15 75501056 75501056 __UNKNOWN__ Silent SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:75501056G>C ENST00000360639.2 + 2 2987 c.2667G>C c.(2665-2667)ctG>ctC p.L889L C15orf39_ENST00000567617.1_Silent_p.L889L|C15orf39_ENST00000394987.4_Silent_p.L889L Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 889 NA cytoplasm (GO:0005737) autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 AGCTCGCCCTGCCAGGCTGCA 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 24 21 22 NA NA NA 15 NA NA 75501056 2197 4292 6489 SO:0001819 synonymous_variant AK128205 CCDS10276.1 15q23 2013-03-14 2005-10-24 ENSG00000167173 ENSG00000167173 56905 24497 protein-coding gene gene with protein product chromosome 15 open reading frame 38~Name Same As HGNC:28782 NA Standard NM_015492 NM_015492 NA Approved DKFZP434H132, FLJ46337 uc002azq.4 Q6ZRI6 OTTHUMG00000142820 ENST00000360639.2:c.2667G>C chr15.hg19:g.75501056G>C NA B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5 hg19 CCDS10276.1 0.02 3.742096 CCTxCCA COVERED NOVEL C15orf39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286410.1 0 7.522404 KEEP 0 0 0 25 858 GG 0.999931 0.999929 0 + 24 60 793 0 0 64.872385 94 60 3171 188 ENST00000360639.2 0.20339 0.999998 NEIL1 79661 __UNKNOWN__ __UNKNOWN__ 15 75641827 75641827 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:75641827G>T ENST00000564784.1 + 3 1063 NEIL1_ENST00000569035.1_Intron|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Intron Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 (E. coli) NA NA base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979) chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 acctgtcctgGGTCAGCTCCC 0.562 NA Base excision repair (BER), DNA glycosylases NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026055 CCDS10278.1 15q33.33 2008-07-18 ENSG00000140398 ENSG00000140398 79661 18448 protein-coding gene gene with protein product 608844 NA 11904416 Standard NM_024608 NM_024608 NA Approved FLJ22402, hFPG1, NEI1, FPG1 uc002bae.4 Q96FI4 OTTHUMG00000142821 ENST00000564784.1:c.434+147G>T chr15.hg19:g.75641827G>T NA D3DW75|Q6ZRA7|Q86XW7|Q9H6C3 hg19 CCDS10278.1 0.02 -0.280683 CTGxGTC COVERED NOVEL NEIL1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419885.1 1 3.309257 KEEP 0 0 0 11 363 GG 0.993072 0.734547 0 + 5 60 141 0 0 10.466824 27 60 893 49 ENST00000564784.1 0.15625 0.739671 SIN3A 25942 __UNKNOWN__ __UNKNOWN__ 15 75662339 75662339 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:75662339T>C ENST00000394947.3 - 0 6117 NM_001145358.1 NP_001138830.1 SIN3 transcription regulator family member A NA NA breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 acctgtaatctcagcactttg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027559 CCDS10279.1 15q22.33 2013-08-21 2013-08-21 ENSG00000169375 ENSG00000169375 25942 19353 protein-coding gene gene with protein product 607776 SIN3 homolog A, transcription regulator (yeast), SIN3 transcription regulator homolog A (yeast) NA 10773092, 7601471 Standard NM_015477 NM_001145357 NA Approved KIAA0700, DKFZP434K2235 uc002bai.3 Q96ST3 OTTHUMG00000142834 ENST00000394947.3:c.*1981A>G chr15.hg19:g.75662339T>C NA hg19 CCDS10279.1 0.02 5.674883 ATCxCAG COVERED NOVEL SIN3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286469.1 13 10.191337 KEEP 0 3 106 71 2199 TT 1 1 0 - 8 60 268 0 1 16.879751 150 60 4532 322 ENST00000394947.3 0.050633 1 PTPN9 5780 __UNKNOWN__ __UNKNOWN__ 15 75765891 75765891 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:75765891T>A ENST00000306726.2 - 10 1721 NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725) central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ttggcctccctaagtgctggg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10280.1 15q23 2011-06-09 ENSG00000169410 ENSG00000169410 5780 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9661 protein-coding gene gene with protein product 600768 NA 1557404 Standard NM_002833 NA Approved MEG2 uc002bal.3 P43378 OTTHUMG00000142838 ENST00000306726.2:c.1208+138A>T chr15.hg19:g.75765891T>A NA Q53XR9 hg19 CCDS10280.1 0.02 -0.28934 CCCxAAG COVERED NOVEL PTPN9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286474.1 3 4.51349 KEEP 0 0 0 15 464 TT 0.99649 0.758216 0 - 3 60 94 1 0 6.553962 28 60 786 57 ENST00000306726.2 0.096774 0.760887 SNUPN 10073 __UNKNOWN__ __UNKNOWN__ 15 75901766 75901766 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:75901766A>G ENST00000564644.1 - 6 1081 SNUPN_ENST00000567134.1_Intron|SNUPN_ENST00000308588.5_Intron|SNUPN_ENST00000564675.1_Intron|SNUPN_ENST00000371091.5_Intron O95149 SPN1_HUMAN snurportin 1 NA NA gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643) protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339) endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 tcctgacctcatgatccaccc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039029 CCDS10281.1 15q24.2 2008-02-05 2006-07-14 2006-07-14 ENSG00000169371 ENSG00000169371 10073 14245 protein-coding gene gene with protein product 607902 RNA, U transporter 1 RNUT1 NA 9670026 Standard NM_005701 NM_005701 NA Approved SNURPORTIN-1, Snurportin1 uc002bas.3 O95149 OTTHUMG00000142833 ENST00000564644.1:c.502+132T>C chr15.hg19:g.75901766A>G NA A6NE34|A8K0B0|D3DW76 hg19 CCDS10281.1 0.02 1.572844 CTCxTGA COVERED NOVEL SNUPN-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000420332.1 1 4.346027 KEEP 3 1 18 21 636 AA 0.999869 0.986024 0 - 4 40 127 0 2 8.355316 52 60 1515 94 ENST00000564644.1 0.071429 0.986153 CSPG4 1464 __UNKNOWN__ __UNKNOWN__ 15 75982072 75982072 __UNKNOWN__ Missense_Mutation SNP G G A rs77681934 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:75982072G>A ENST00000308508.5 - 3 1426 c.1334C>T c.(1333-1335)gCc>gTc p.A445V NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 445 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}. NA activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) p.A445V(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CTCAAGCCAGGCTGTGCCCCC 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) liver(1) 49 47 48 NA NA NA 15 NA NA 75982072 2197 4293 6490 SO:0001583 missense X96753, AY359468 CCDS10284.1 15q24.2 2010-04-19 2007-02-16 ENSG00000173546 ENSG00000173546 1464 Proteoglycans / Cell surface : Other 2466 protein-coding gene gene with protein product melanoma-associated chondroitin sulfate proteoglycan 601172 chondroitin sulfate proteoglycan 4 (melanoma-associated) NA 8790396, 16407841 Standard NM_001897 NM_001897 NA Approved MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA uc002baw.3 Q6UVK1 OTTHUMG00000142836 ENST00000308508.5:c.1334C>T chr15.hg19:g.75982072G>A ENSP00000312506:p.Ala445Val NA D3DW77|Q92675 hg19 CCDS10284.1 0.02 4.768465 CAGxCTG COVERED . . . . . . . . . . . 18.33 3.601347 0.66445 . . ENSG00000173546 ENST00000308508 T 0.26223 1.75 5.26 5.26 0.73747 . 0.180168 0.38381 N 0.001715 T 0.21761 0.0524 L 0.57536 1.79 0.54753 D 0.999986 P 0.48503 0.911 B 0.36766 0.232 T 0.03503 -1.1030 10 0.23302 T 0.38 . 11.3564 0.49617 0.0831:0.0:0.9168:0.0 . 445 Q6UVK1 CSPG4_HUMAN V 445 ENSP00000312506:A445V ENSP00000312506:A445V A - 2 0 CSPG4 73769127 1.000000 0.71417 0.995000 0.50966 0.920000 0.55202 4.849000 0.62882 2.463000 0.83235 0.555000 0.69702 GCC NOVEL CSPG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286472.1 1 8.29539 KEEP 1 2 58 48 1713 GG 1 1 0 - 39 60 1152 0 0 95.345288 120 60 3989 292 ENST00000308508.5 0.245283 1 CSPG4 1464 __UNKNOWN__ __UNKNOWN__ 15 75982085 75982085 __UNKNOWN__ Missense_Mutation SNP C C T rs79463888 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:75982085C>T ENST00000308508.5 - 3 1413 c.1321G>A c.(1321-1323)Gag>Aag p.E441K NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 441 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}. NA activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GTGCCCCCCTCGGCCACCACC 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 43 42 43 NA NA NA 15 NA NA 75982085 2197 4292 6489 SO:0001583 missense X96753, AY359468 CCDS10284.1 15q24.2 2010-04-19 2007-02-16 ENSG00000173546 ENSG00000173546 1464 Proteoglycans / Cell surface : Other 2466 protein-coding gene gene with protein product melanoma-associated chondroitin sulfate proteoglycan 601172 chondroitin sulfate proteoglycan 4 (melanoma-associated) NA 8790396, 16407841 Standard NM_001897 NM_001897 NA Approved MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA uc002baw.3 Q6UVK1 OTTHUMG00000142836 ENST00000308508.5:c.1321G>A chr15.hg19:g.75982085C>T ENSP00000312506:p.Glu441Lys NA D3DW77|Q92675 hg19 CCDS10284.1 0.02 2.666596 CCTxGGC COVERED . . . . . . . . . . . 18.26 3.584924 0.65992 . . ENSG00000173546 ENST00000308508 T 0.31510 1.49 5.26 5.26 0.73747 . 0.170667 0.41001 D 0.000974 T 0.48642 0.1511 M 0.78049 2.395 0.80722 D 1 D 0.71674 0.998 P 0.56278 0.795 T 0.52041 -0.8628 10 0.59425 D 0.04 . 11.3564 0.49617 0.0:0.9168:0.0:0.0831 . 441 Q6UVK1 CSPG4_HUMAN K 441 ENSP00000312506:E441K ENSP00000312506:E441K E - 1 0 CSPG4 73769140 1.000000 0.71417 0.998000 0.56505 0.513000 0.34164 4.634000 0.61325 2.463000 0.83235 0.555000 0.69702 GAG NOVEL CSPG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286472.1 1 5.085728 KEEP 5 2 63 39 1319 CC 1 1 0 - 32 60 971 0 0 78.609277 118 60 3638 268 ENST00000308508.5 0.213333 1 UBE2Q2 92912 __UNKNOWN__ __UNKNOWN__ 15 76147580 76147580 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:76147580T>C ENST00000267938.4 + 2 664 UBE2Q2_ENST00000338677.4_Intron|UBE2Q2_ENST00000561851.1_Intron|UBE2Q2_ENST00000569423.1_Intron|UBE2Q2_ENST00000562635.1_Intron NM_173469.2 NP_775740.1 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q family member 2 NA NA protein K48-linked ubiquitination (GO:0070936) cytoplasm (GO:0005737) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842) endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 12 gcctgtaatctcagcacttta 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017708 CCDS10286.1, CCDS45309.1, CCDS66839.1 15q24.2 2010-05-12 2008-05-02 ENSG00000140367 ENSG00000140367 92912 Ubiquitin-conjugating enzymes E2 19248 protein-coding gene gene with protein product 612501 ubiquitin-conjugating enzyme E2Q (putative) 2 NA 16300736 Standard NM_173469 NM_001145335 NA Approved DKFZp762C143 uc002bbg.2 Q8WVN8 OTTHUMG00000142839 ENST00000267938.4:c.282+752T>C chr15.hg19:g.76147580T>C NA B7Z3Q2|H3BRG2|Q8N4G6|Q96J08 hg19 CCDS10286.1 0.02 -0.192965 ATCxCAG COVERED NOVEL UBE2Q2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286475.1 7 2.708609 KEEP 0 0 0 9 297 TT 0.99254 0.454342 0 + 4 60 137 0 0 11.262908 16 60 480 45 ENST00000267938.4 0.2 0.457757 NRG4 145957 __UNKNOWN__ __UNKNOWN__ 15 76251425 76251425 __UNKNOWN__ Intron SNP C C T rs540515484 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:76251425C>T ENST00000394907.3 - 4 433 NM_138573.3 NP_612640.1 Q8WWG1 NRG4_HUMAN neuregulin 4 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 tgggctcaagcgatcttccca 0.453 NA C||| 1 0.000199681 8e-04 0 5008 , , NA 16406 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017568 CCDS10288.1 15q23 2005-10-30 ENSG00000169752 ENSG00000169752 145957 29862 protein-coding gene gene with protein product 610894 NA 12477932 Standard NM_138573 NM_138573 NA Approved HRG4 uc002bbo.3 Q8WWG1 OTTHUMG00000142917 ENST00000394907.3:c.251+2743G>A chr15.hg19:g.76251425C>T NA A6NIE8 hg19 CCDS10288.1 0.02 2.767838 AAGxGAT COVERED NOVEL NRG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286632.1 19 8.427094 KEEP 0 0 0 28 979 CC 0.999997 0.999995 0 - 6 60 171 0 0 9.898919 103 60 3350 196 ENST00000394907.3 0.055046 0.999998 NRG4 145957 __UNKNOWN__ __UNKNOWN__ 15 76251436 76251436 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:76251436T>C ENST00000394907.3 - 4 433 NM_138573.3 NP_612640.1 Q8WWG1 NRG4_HUMAN neuregulin 4 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 gatcttcccatctcagcctcc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017568 CCDS10288.1 15q23 2005-10-30 ENSG00000169752 ENSG00000169752 145957 29862 protein-coding gene gene with protein product 610894 NA 12477932 Standard NM_138573 NM_138573 NA Approved HRG4 uc002bbo.3 Q8WWG1 OTTHUMG00000142917 ENST00000394907.3:c.251+2732A>G chr15.hg19:g.76251436T>C NA A6NIE8 hg19 CCDS10288.1 0.02 3.61965 CCAxCTC COVERED NOVEL NRG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286632.1 19 8.124293 KEEP 0 0 0 27 838 TT 0.999988 0.999987 0 - 6 60 197 0 0 12.12087 119 60 3471 231 ENST00000394907.3 0.048 1 SCAPER 49855 __UNKNOWN__ __UNKNOWN__ 15 76790123 76790123 __UNKNOWN__ Intron SNP C C G rs573532911 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:76790123C>G ENST00000563290.1 - 24 3050 SCAPER_ENST00000538941.2_Intron|SCAPER_ENST00000324767.7_Intron Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER NA NA endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) metal ion binding (GO:0046872) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 catgaggtcacgagatcgaga 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040887, AF242528 CCDS53961.1, CCDS53962.1 15q24.3 2012-10-05 2009-03-11 2007-08-20 ENSG00000140386 ENSG00000140386 49855 Zinc fingers, C2H2-type 13081 protein-coding gene gene with protein product 611611 zinc finger protein 291 ZNF291 NA 17698606 Standard NM_020843 NM_020843 NA Approved Zfp291 uc002bby.3 Q9BY12 OTTHUMG00000172655 ENST00000563290.1:c.2954+7076G>C chr15.hg19:g.76790123C>G NA F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274 hg19 CCDS53962.1 0.02 -0.16666 TCAxGAG COVERED NOVEL SCAPER-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419698.1 2 2.407472 KEEP 1 0 0 8 270 CC 0.99257 0.351317 0 - 4 60 117 0 0 9.468384 14 60 457 43 ENST00000563290.1 0.222222 0.353947 SCAPER 49855 __UNKNOWN__ __UNKNOWN__ 15 77140674 77140674 __UNKNOWN__ Intron SNP T T G rs12906731 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:77140674T>G ENST00000563290.1 - 5 291 SCAPER_ENST00000538941.2_Intron|SCAPER_ENST00000324767.7_Intron Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER NA NA endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) metal ion binding (GO:0046872) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 Gtttttttttttttttttttt 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040887, AF242528 CCDS53961.1, CCDS53962.1 15q24.3 2012-10-05 2009-03-11 2007-08-20 ENSG00000140386 ENSG00000140386 49855 Zinc fingers, C2H2-type 13081 protein-coding gene gene with protein product 611611 zinc finger protein 291 ZNF291 NA 17698606 Standard NM_020843 NM_020843 NA Approved Zfp291 uc002bby.3 Q9BY12 OTTHUMG00000172655 ENST00000563290.1:c.196-6402A>C chr15.hg19:g.77140674T>G NA F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274 hg19 CCDS53962.1 0.02 -0.175335 TTTxTTT UNCOVERED NOVEL SCAPER-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419698.1 12 2.407036 KEEP 7 0 0 8 242 TT 0 0 0 - 5 60 162 0 0 14.270886 11 60 304 49 ENST00000563290.1 0.3125 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 77210404 77210404 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:77210404A>G NA NA SCAPER (12728 upstream) : RCN2 (13555 downstream) NA NA NA gattacaggcatgagccacca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.77210404A>G NA hg19 0.02 -0.333078 GGCxTGA COVERED NOVEL 0 7 2.407514 KEEP 0 0 0 8 257 AA 0.99257 0.845654 0 3 20 98 0 0 6.910604 29 60 808 69 0.09375 0.851984 PEAK1 79834 __UNKNOWN__ __UNKNOWN__ 15 77402490 77402490 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:77402490G>A ENST00000560626.2 - 0 9724 PEAK1_ENST00000312493.4_3'UTR Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 NA NA cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715) NA gctggagtgcgatggcgtgat 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS42062.1 15q24.3 2013-09-27 ENSG00000173517 ENSG00000173517 79834 29431 protein-coding gene gene with protein product 614248 NA 16879967, 20534451 Standard NM_024776 NA Approved KIAA2002, sgk269 Q9H792 OTTHUMG00000172618 ENST00000560626.2:c.*4008C>T chr15.hg19:g.77402490G>A NA Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7 hg19 CCDS42062.1 0.02 1.306969 TGCxATG COVERED NOVEL PEAK1-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419483.3 12 3.044829 KEEP 1 1 31 21 742 GG 0.999879 0.999097 0 - 6 60 178 0 0 12.022745 58 60 1845 132 ENST00000560626.2 0.09375 0.999218 PEAK1 79834 __UNKNOWN__ __UNKNOWN__ 15 77402491 77402491 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:77402491A>G ENST00000560626.2 - 0 9723 PEAK1_ENST00000312493.4_3'UTR Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 NA NA cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715) NA ctggagtgcgatggcgtgatc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS42062.1 15q24.3 2013-09-27 ENSG00000173517 ENSG00000173517 79834 29431 protein-coding gene gene with protein product 614248 NA 16879967, 20534451 Standard NM_024776 NA Approved KIAA2002, sgk269 Q9H792 OTTHUMG00000172618 ENST00000560626.2:c.*4007T>C chr15.hg19:g.77402491A>G NA Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7 hg19 CCDS42062.1 0.02 1.8135 GCGxTGG COVERED NOVEL PEAK1-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419483.3 11 6.620353 KEEP 1 0 0 22 699 AA 0.999879 0.998746 0 - 4 60 142 0 0 9.701159 57 60 1632 127 ENST00000560626.2 0.065574 0.998867 PEAK1 79834 __UNKNOWN__ __UNKNOWN__ 15 77647115 77647115 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:77647115T>C ENST00000560626.2 - 2 202 PEAK1_ENST00000558305.1_Intron|PEAK1_ENST00000567337.1_Intron Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 NA NA cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715) NA ggcgcggtggttcatgcctgt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42062.1 15q24.3 2013-09-27 ENSG00000173517 ENSG00000173517 79834 29431 protein-coding gene gene with protein product 614248 NA 16879967, 20534451 Standard NM_024776 NA Approved KIAA2002, sgk269 Q9H792 OTTHUMG00000172618 ENST00000560626.2:c.273+10389A>G chr15.hg19:g.77647115T>C NA Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7 hg19 CCDS42062.1 0.02 -0.192948 TGGxTCA COVERED NOVEL PEAK1-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419483.3 7 2.406911 KEEP 0 0 0 8 244 TT 0.99257 0.454356 0 - 4 60 141 0 0 11.663025 16 60 468 43 ENST00000560626.2 0.2 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 78262477 78262477 __UNKNOWN__ IGR SNP A A T rs562314462 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:78262477A>T NA NA RP11-114H24.3 (6481 upstream) : RP11-114H24.5 (17856 downstream) NA NA NA cccagcacttagggaggccga 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.78262477A>T NA hg19 0.02 -0.254315 CTTxGGG COVERED NOVEL 0 6 2.407492 KEEP 1 0 0 8 257 AA 0.99257 0.663556 0 5 60 147 0 0 11.560024 21 60 610 55 0.192308 0.668523 TBC1D2B 23102 __UNKNOWN__ __UNKNOWN__ 15 78353028 78353028 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:78353028A>G ENST00000300584.3 - 2 360 TBC1D2B_ENST00000409931.3_Intron NM_015079.5|NM_144572.1 NP_055894.6|NP_653173.1 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B NA NA Rab GTPase activator activity (GO:0005097) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 ggaggccgagacaggcagatc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028978 CCDS32301.2, CCDS45314.1 15q24.3-q25.1 2005-11-29 ENSG00000167202 ENSG00000167202 23102 29183 protein-coding gene gene with protein product NA 10470851 Standard NM_015079 NM_015079 NA Approved KIAA1055 uc002bcy.4 Q9UPU7 OTTHUMG00000152885 ENST00000300584.3:c.361-6499T>C chr15.hg19:g.78353028A>G NA A7MD42|Q8N1F9|Q9NXM0 hg19 CCDS45314.1 0.02 -0.245541 GAGxCAG COVERED NOVEL TBC1D2B-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000328369.3 4 2.407209 KEEP 0 0 0 8 248 AA 0.99257 0.636582 0 - 3 60 97 0 0 7.095119 23 60 648 46 ENST00000300584.3 0.115385 0.641347 TBC1D2B 23102 __UNKNOWN__ __UNKNOWN__ 15 78368890 78368890 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:78368890T>C ENST00000300584.3 - 1 360 TBC1D2B_ENST00000409931.3_Intron NM_015079.5|NM_144572.1 NP_055894.6|NP_653173.1 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B NA NA Rab GTPase activator activity (GO:0005097) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 agttcgagactagcctgggca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028978 CCDS32301.2, CCDS45314.1 15q24.3-q25.1 2005-11-29 ENSG00000167202 ENSG00000167202 23102 29183 protein-coding gene gene with protein product NA 10470851 Standard NM_015079 NM_015079 NA Approved KIAA1055 uc002bcy.4 Q9UPU7 OTTHUMG00000152885 ENST00000300584.3:c.360+744A>G chr15.hg19:g.78368890T>C NA A7MD42|Q8N1F9|Q9NXM0 hg19 CCDS45314.1 0.02 -0.289363 GACxAGC COVERED NOVEL TBC1D2B-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000328369.3 8 3.309142 KEEP 0 0 0 11 326 TT 0.993072 0.775649 0 - 3 60 102 0 0 7.397839 27 60 762 63 ENST00000300584.3 0.1 0.78106 HYKK 123688 __UNKNOWN__ __UNKNOWN__ 15 78810792 78810792 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:78810792T>C ENST00000569878.1 + 2 477 HYKK_ENST00000388988.4_Intron|HYKK_ENST00000360519.3_Intron|HYKK_ENST00000563233.1_Intron|HYKK_ENST00000408962.2_Intron|HYKK_ENST00000566332.1_Intron A2RU49 HYKK_HUMAN hydroxylysine kinase NA NA cytoplasm (GO:0005737) hydroxylysine kinase activity (GO:0047992) NA gctgggattataggtgtgagc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC132753, BC144383, BM045979 CCDS42063.1, CCDS45318.1 15q25.1 2013-06-11 2013-06-11 2013-06-11 ENSG00000188266 ENSG00000188266 123688 2.7.1.81 34403 protein-coding gene gene with protein product 5-hydroxylysine kinase 614681 aminoglycoside phosphotransferase domain containing 1 AGPHD1 NA 18780872, 22241472 Standard NM_001013619 NM_001013619 NA Approved LOC123688 uc010unc.2 A2RU49 ENST00000569878.1:c.477+3343T>C chr15.hg19:g.78810792T>C NA B7ZMA5|F8W6X5|Q6ZTN0 hg19 CCDS42063.1 0.02 1.669514 TTAxAGG COVERED NOVEL HYKK-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000435834.1 15 5.10649 KEEP 1 0 0 17 487 TT 0.997832 0.99724 0 + 5 60 175 1 0 12.003309 67 60 1869 132 ENST00000569878.1 0.069444 0.999407 MORF4L1 10933 __UNKNOWN__ __UNKNOWN__ 15 79132781 79132781 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:79132781C>A ENST00000379535.4 + 2 555 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 NA NA cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580) chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485) breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 ggcctcccaacatgctgggat 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100615 CCDS10307.1, CCDS32304.1, CCDS58393.1 15q25.1 2009-07-13 ENSG00000185787 ENSG00000185787 10933 16989 protein-coding gene gene with protein product MORF-related gene on chromosome 15, Esa1p-associated factor 3 homolog (S. cerevisiae) 607303 NA 8619474, 9110174 Standard NM_006791 NM_006791 NA Approved MRG15, MORFRG15, HsT17725, Eaf3, MEAF3 uc002bel.4 Q9UBU8 OTTHUMG00000143865 ENST00000379535.4:c.-9-113C>A chr15.hg19:g.79132781C>A NA B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5 hg19 0.02 -0.333299 CAAxATG COVERED NOVEL MORF4L1-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417833.1 4 7.222027 KEEP 0 0 0 24 793 CC 0.999909 0.851907 0 + 4 60 107 0 0 7.270983 30 60 1000 70 ENST00000379535.4 0.117647 0.851984 ZFAND6 54469 __UNKNOWN__ __UNKNOWN__ 15 80404994 80404994 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:80404994A>T ENST00000261749.6 + 3 405 ZFAND6_ENST00000558087.1_Intron|ZFAND6_ENST00000561060.1_Intron|ZFAND6_ENST00000559835.1_Intron|ZFAND6_ENST00000558688.1_Intron|ZFAND6_ENST00000558494.1_Intron|ZFAND6_ENST00000559775.1_Intron|ZFAND6_ENST00000559157.1_Intron NM_001242913.1|NM_001242914.1|NM_019006.3 NP_001229842.1|NP_001229843.1|NP_061879.2 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 NA NA apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122) cytoplasm (GO:0005737) DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270) cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 tgccttggccacccaaagtgc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC005283 CCDS10313.1, CCDS58395.1 15q24.3 2013-01-09 2006-07-07 2006-07-07 ENSG00000086666 ENSG00000086666 54469 Zinc fingers, AN1-type domain containing 30164 protein-coding gene gene with protein product protein associated with PRK1 610183 zinc finger, A20 domain containing 3 ZA20D3 NA 11054541 Standard NM_019006 NM_019006 NA Approved ZFAND5B, AWP1 uc002bff.2 Q6FIF0 OTTHUMG00000144169 ENST00000261749.6:c.-17-7676A>T chr15.hg19:g.80404994A>T NA D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3 hg19 CCDS10313.1 0.02 2.998135 GCCxCCC COVERED NOVEL ZFAND6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000291368.1 10 12.403601 KEEP 0 2 56 61 1920 AA 1 0.999968 0 + 6 60 165 0 0 9.760417 86 60 2536 200 ENST00000261749.6 0.065217 0.999968 ARNT2 9915 __UNKNOWN__ __UNKNOWN__ 15 80767648 80767648 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:80767648T>C ENST00000531595.3 + 2 403 ARNT2_ENST00000533983.1_Intron|ARNT2_ENST00000303329.4_Intron|ARNT2_ENST00000527771.1_Intron Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 NA NA central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) gtaatcccagtactttgggag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002305 CCDS32307.1 15q25.1 2013-05-21 ENSG00000172379 ENSG00000172379 9915 Basic helix-loop-helix proteins 16876 protein-coding gene gene with protein product 606036 NA 11247670 Standard NM_014862 NA Approved KIAA0307, bHLHe1 uc002bfr.3 Q9HBZ2 OTTHUMG00000165478 ENST00000531595.3:c.403+84T>C chr15.hg19:g.80767648T>C NA B4DIS7|O15024|Q8IYC2 hg19 0.02 -0.254298 CAGxACT COVERED NOVEL ARNT2-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000384438.2 10 3.91111 KEEP 2 0 0 13 387 TT 0.994391 0.689777 0 + 3 60 90 1 1 6.567058 20 60 559 66 ENST00000531595.3 0.130435 0.693668 ARNT2 9915 __UNKNOWN__ __UNKNOWN__ 15 80767661 80767661 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:80767661T>C ENST00000531595.3 + 2 403 ARNT2_ENST00000533983.1_Intron|ARNT2_ENST00000303329.4_Intron|ARNT2_ENST00000527771.1_Intron Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 NA NA central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) tttgggaggctgaggcgggtg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002305 CCDS32307.1 15q25.1 2013-05-21 ENSG00000172379 ENSG00000172379 9915 Basic helix-loop-helix proteins 16876 protein-coding gene gene with protein product 606036 NA 11247670 Standard NM_014862 NA Approved KIAA0307, bHLHe1 uc002bfr.3 Q9HBZ2 OTTHUMG00000165478 ENST00000531595.3:c.403+97T>C chr15.hg19:g.80767661T>C NA B4DIS7|O15024|Q8IYC2 hg19 0.02 -0.263117 GGCxGAG COVERED NOVEL ARNT2-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000384438.2 8 3.911892 KEEP 2 0 0 13 409 TT 0.994391 0.689777 0 + 3 60 96 0 0 6.995056 23 60 689 64 ENST00000531595.3 0.115385 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 81484740 81484740 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:81484740A>G NA NA C15orf26 (43224 upstream) : IL16 (4479 downstream) NA NA NA ccaggagttcaagaccagcct 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.81484740A>G NA hg19 0.02 -0.298197 TTCxAGA COVERED NOVEL 0 17 3.009133 KEEP 1 0 0 10 311 AA 0.99254 0.775233 0 5 60 153 0 0 11.982117 23 60 674 67 0.178571 0.78106 CPEB1 64506 __UNKNOWN__ __UNKNOWN__ 15 83215100 83215100 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:83215100A>C ENST00000563800.1 - 11 3382 CPEB1_ENST00000568128.1_Intron|CPEB1_ENST00000450751.2_Intron|RP11-152F13.10_ENST00000562833.1_Intron|CPEB1_ENST00000398591.2_Intron|CPEB1_ENST00000564522.1_Intron|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000562019.1_Intron|CPEB1_ENST00000261723.6_Intron|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000568757.1_Intron|CPEB1_ENST00000423133.2_Intron Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 NA NA cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529) metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900) breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) ccaccttggcatcccaaagtg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF329402 CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2 15q25.1 2008-02-05 ENSG00000214575 64506 21744 protein-coding gene gene with protein product 607342 NA 11223249 Standard NM_030594 NM_001079533 NA Approved FLJ13203, CPEB uc002biv.3 Q9BZB8 ENST00000563800.1:c.1656+90T>G chr15.hg19:g.83215100A>C NA B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5 hg19 0.02 1.754005 GGCxTCC COVERED NOVEL CPEB1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000421099.1 12 2.743298 KEEP 1 1 34 21 666 AA 0.999879 0.989422 0 - 4 60 127 0 0 8.323491 53 60 1588 101 ENST00000563800.1 0.070175 0.989542 FSD2 123722 __UNKNOWN__ __UNKNOWN__ 15 83426705 83426705 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:83426705A>C ENST00000334574.8 - 0 3826 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 NA NA breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 tcttgttgccaaggctggagt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK122875 CCDS45332.1, CCDS61738.1 15q25.2 2013-02-11 2006-01-11 2006-01-11 ENSG00000186628 123722 Fibronectin type III domain containing 18024 protein-coding gene gene with protein product SPRY domain containing 1 SPRYD1 NA Standard NM_001007122 NM_001007122 NA Approved RP11-127F21 uc002bjd.2 A1L4K1 ENST00000334574.8:c.*1395T>G chr15.hg19:g.83426705A>C NA B3KVG1|B7ZM02 hg19 CCDS45332.1 0.02 7.842121 GCCxAGG COVERED NOVEL FSD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418385.1 21 23.234551 KEEP 0 2 74 103 3083 AA 1 1 0 - 8 60 275 0 0 16.980531 179 60 5031 409 ENST00000334574.8 0.042781 1 FSD2 123722 __UNKNOWN__ __UNKNOWN__ 15 83426851 83426851 __UNKNOWN__ 3'UTR SNP C C T rs551972762 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:83426851C>T ENST00000334574.8 - 0 3680 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 NA NA breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 ttagtagagacggggtttcgc 0.453 NA C||| 3 0.000599042 0.0023 0 5008 , , NA 17624 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK122875 CCDS45332.1, CCDS61738.1 15q25.2 2013-02-11 2006-01-11 2006-01-11 ENSG00000186628 123722 Fibronectin type III domain containing 18024 protein-coding gene gene with protein product SPRY domain containing 1 SPRYD1 NA Standard NM_001007122 NM_001007122 NA Approved RP11-127F21 uc002bjd.2 A1L4K1 ENST00000334574.8:c.*1249G>A chr15.hg19:g.83426851C>T NA B3KVG1|B7ZM02 hg19 CCDS45332.1 0.02 0.94972 AGAxGGG COVERED NOVEL FSD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418385.1 12 11.436737 KEEP 0 0 0 38 1313 CC 1 0.999622 0 - 6 60 169 0 0 10.623868 71 70 2262 167 ENST00000334574.8 0.077922 0.999622 FSD2 123722 __UNKNOWN__ __UNKNOWN__ 15 83426860 83426860 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:83426860G>A ENST00000334574.8 - 0 3671 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 NA NA breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 acggggtttcgccaGAAAAAA 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK122875 CCDS45332.1, CCDS61738.1 15q25.2 2013-02-11 2006-01-11 2006-01-11 ENSG00000186628 123722 Fibronectin type III domain containing 18024 protein-coding gene gene with protein product SPRY domain containing 1 SPRYD1 NA Standard NM_001007122 NM_001007122 NA Approved RP11-127F21 uc002bjd.2 A1L4K1 ENST00000334574.8:c.*1240C>T chr15.hg19:g.83426860G>A NA B3KVG1|B7ZM02 hg19 CCDS45332.1 0.02 1.338553 TTCxCCA COVERED NOVEL FSD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418385.1 16 10.74242 KEEP 0 0 0 36 1180 GG 0.999999 0.999677 0 - 7 60 205 1 0 13.589975 72 70 2197 175 ENST00000334574.8 0.088608 0.999678 WHAMM 123720 __UNKNOWN__ __UNKNOWN__ 15 83503063 83503063 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:83503063T>C ENST00000286760.4 + 0 3304 NM_001080435.1 NP_001073904.1 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi membranes and microtubules NA NA actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127) cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139) Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017) endometrium(6)|large_intestine(5)|lung(1)|prostate(1) 13 gttgggattataggcatgagc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126887 CCDS45333.1 15q25.2 2009-02-18 2009-02-18 2009-02-18 ENSG00000156232 ENSG00000156232 123720 30493 protein-coding gene gene with protein product 612393 WAS protein homology region 2 domain containing 1 WHDC1 NA 11853319, 18226259, 18614018, 18812086 Standard XM_005272422 NA Approved KIAA1971 uc002bje.3 Q8TF30 ENST00000286760.4:c.*775T>C chr15.hg19:g.83503063T>C NA Q8N1J9 hg19 CCDS45333.1 0.02 -0.420474 TTAxAGG COVERED NOVEL WHAMM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418463.1 4 3.008504 KEEP 0 0 0 10 293 TT 0.992708 0.947531 0 + 3 60 100 0 0 6.649366 42 60 1158 77 ENST00000286760.4 0.066667 0.954491 C15orf40 123207 __UNKNOWN__ __UNKNOWN__ 15 83660712 83660712 __UNKNOWN__ Silent SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:83660712T>A ENST00000451195.3 - 4 452 c.453A>T c.(451-453)atA>atT p.I151I C15orf40_ENST00000538348.2_Intron|RP11-382A20.5_ENST00000566841.1_RNA NM_001160115.1 NP_001153587.1 Q8WUR7 CO040_HUMAN chromosome 15 open reading frame 40 0 NA large_intestine(3)|lung(2)|skin(1) 6 tcacacctgttatcccagcac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant BC019820 CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1 15q25.2 2012-05-30 ENSG00000169609 ENSG00000169609 123207 28443 protein-coding gene gene with protein product NA Standard NM_144597 NM_144597 NA Approved MGC29937 uc010uoo.1 Q8WUR7 OTTHUMG00000160473 ENST00000451195.3:c.453A>T chr15.hg19:g.83660712T>A NA A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00 hg19 CCDS53969.1 0.02 1.967353 TGTxATC COVERED NOVEL C15orf40-012 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000419603.2 23 14.108887 KEEP 0 2 63 69 2097 TT 1 1 0 - 10 60 274 0 0 16.992594 117 60 3276 292 ENST00000451195.3 0.07874 1 RP11-382A20.5 0 __UNKNOWN__ __UNKNOWN__ 15 83760648 83760648 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:83760648A>G ENST00000566841.1 + 0 734 NA NA NA cagcttgggcaacagagtgag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000566841.1: chr15.hg19:g.83760648A>G NA hg19 0.02 -0.298198 GGCxACA COVERED NOVEL RP11-382A20.5-001 KNOWN basic antisense NA antisense OTTHUMT00000420398.1 12 2.407279 KEEP 0 0 0 8 251 AA 0.99257 0.775257 0 + 3 60 103 0 0 7.59218 25 60 747 56 ENST00000566841.1 0.107143 0.78106 RP11-382A20.5 0 __UNKNOWN__ __UNKNOWN__ 15 83772040 83772040 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:83772040A>G ENST00000566841.1 + 0 734 NA NA NA gaggtcaggaattcaagacca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000566841.1: chr15.hg19:g.83772040A>G NA hg19 0.02 -0.210459 GGAxTTC COVERED NOVEL RP11-382A20.5-001 KNOWN basic antisense NA antisense OTTHUMT00000420398.1 10 2.407274 KEEP 1 0 0 8 253 AA 0.99257 0.518282 0 + 4 60 134 1 1 10.77998 18 60 505 39 ENST00000566841.1 0.181818 0.522161 HDGFRP3 0 __UNKNOWN__ __UNKNOWN__ 15 83860940 83860940 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:83860940T>C ENST00000299633.4 - 1 688 RP11-382A20.4_ENST00000565495.1_RNA NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN NA NA cell proliferation (GO:0008283) cytoplasm (GO:0005737)|nucleus (GO:0005634) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 gtgatccacctgcctcggcct 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000299633.4:c.84+15142A>G chr15.hg19:g.83860940T>C NA hg19 CCDS32314.1 0.02 1.67223 ACCxGCC COVERED NOVEL HDGFRP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419898.1 8 4.81484 KEEP 1 0 0 16 506 TT 0.99649 0.982692 0 - 4 60 128 1 0 8.554477 49 60 1424 103 ENST00000299633.4 0.075472 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 84109523 84109523 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:84109523T>C NA NA RP11-382A20.4 (1326 upstream) : SH3GL3 (6456 downstream) NA NA NA ccgcattggcttcccaaagtg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.84109523T>C NA hg19 0.02 -0.219247 GGCxTCC COVERED NOVEL 0 4 2.70852 KEEP 0 0 0 9 297 TT 0.99254 0.548763 0 3 60 98 0 0 7.306988 21 60 607 50 0.125 0.552887 RP11-182J1.12 0 __UNKNOWN__ __UNKNOWN__ 15 85065754 85065754 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:85065754C>T ENST00000560239.1 - 0 169 NA NA NA tcccagcactctgggaggcca 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000560239.1: chr15.hg19:g.85065754C>T NA hg19 0.02 -0.37713 ACTxTGG COVERED NOVEL RP11-182J1.12-001 KNOWN mRNA_end_NF|basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000418581.1 9 2.407978 KEEP 2 0 0 8 295 CC 0.99257 0.902315 0 - 5 47 141 0 0 9.784614 38 60 1273 80 ENST00000560239.1 0.116279 0.909069 ZNF592 9640 __UNKNOWN__ __UNKNOWN__ 15 85293269 85293269 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:85293269G>A ENST00000560079.2 + 1 30 NM_014630.2 NP_055445.2 Q92610 ZN592_HUMAN zinc finger protein 592 NA NA cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) gcggtggctcgcgcctgtaat 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D86966 CCDS32317.1 15q25.2 2011-03-15 ENSG00000166716 9640 Zinc fingers, C2H2-type 28986 protein-coding gene gene with protein product 613624 spinocerebellar ataxia, autosomal recessive 5 SCAR5 NA 9039502, 12030328, 20531441 Standard NM_014630 NM_014630 NA Approved KIAA0211, CAMOS uc002bld.3 Q92610 ENST00000560079.2:c.-259+1374G>A chr15.hg19:g.85293269G>A NA Q2M1T2|Q504Y9 hg19 CCDS32317.1 0.02 -0.140357 CTCxCGC COVERED NOVEL ZNF592-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418779.2 3 2.407745 KEEP 0 0 0 8 288 GG 0.99257 0.259026 0 + 3 60 87 1 0 6.872275 12 60 421 38 ENST00000560079.2 0.2 0.260965 AKAP13 11214 __UNKNOWN__ __UNKNOWN__ 15 86077944 86077944 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:86077944T>C ENST00000361243.2 + 4 559 AKAP13_ENST00000560302.1_3'UTR|AKAP13_ENST00000394518.2_Intron NM_006738.5 NP_006729.4 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 gctgggattataggcatgagc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(94;603 1453 3280 32295 32951) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M90360 CCDS32319.1, CCDS32320.1, CCDS73778.1 15q24-q25 2013-01-10 2002-06-13 ENSG00000170776 11214 A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 371 protein-coding gene gene with protein product 604686 lymphoid blast crisis oncogene LBC NA 9627117, 1860836 Standard NM_007200 NM_007200 NA Approved Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13 uc002blu.2 Q12802 ENST00000361243.2:c.478+833T>C chr15.hg19:g.86077944T>C NA Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6 hg19 CCDS32320.1 0.02 2.005924 TTAxAGG COVERED NOVEL AKAP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417319.1 10 3.911694 KEEP 0 0 0 13 399 TT 0.994391 0.971386 0 + 5 60 175 0 0 12.829164 45 60 1269 98 ENST00000361243.2 0.1 0.976865 AKAP13 11214 __UNKNOWN__ __UNKNOWN__ 15 86093424 86093424 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:86093424A>G ENST00000361243.2 + 5 743 AKAP13_ENST00000394518.2_Intron NM_006738.5 NP_006729.4 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 gggattacagacgtgagccac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(94;603 1453 3280 32295 32951) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M90360 CCDS32319.1, CCDS32320.1, CCDS73778.1 15q24-q25 2013-01-10 2002-06-13 ENSG00000170776 11214 A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 371 protein-coding gene gene with protein product 604686 lymphoid blast crisis oncogene LBC NA 9627117, 1860836 Standard NM_007200 NM_007200 NA Approved Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13 uc002blu.2 Q12802 ENST00000361243.2:c.662+6238A>G chr15.hg19:g.86093424A>G NA Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6 hg19 CCDS32320.1 0.02 -0.271874 CAGxCGT COVERED NOVEL AKAP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417319.1 2 3.009419 KEEP 0 0 0 10 325 AA 0.992708 0.712085 0 + 3 60 103 0 0 7.497524 27 60 783 55 ENST00000361243.2 0.1 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 87779165 87779165 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:87779165T>C NA NA RP11-138H10.2 (188773 upstream) : RP11-648K4.2 (196123 downstream) NA NA NA tgctctgttgtccaggctgga 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.87779165T>C NA hg19 0.02 -0.192931 TTGxCCA COVERED NOVEL 0 7 2.407051 KEEP 0 0 0 8 249 TT 0.99257 0.454356 0 3 60 95 0 0 7.333793 16 60 466 39 0.157895 0.457757 MESP2 145873 __UNKNOWN__ __UNKNOWN__ 15 90308110 90308110 __UNKNOWN__ 5'UTR SNP A A G rs34936212 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:90308110A>G ENST00000560219.1 + 0 128 MESP2_ENST00000558723.1_Intron Q0VG99 MESP2_HUMAN mesoderm posterior basic helix-loop-helix transcription factor 2 NA NA mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ccaaagtgctaggattacagg 0.418 NA G||| 1590 0.317492 0.4297 0.2522 5008 , , NA 15498 0.1915 NA 0.2952 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS42078.1 15q26.1 2014-06-30 2014-06-30 ENSG00000188095 145873 Basic helix-loop-helix proteins 29659 protein-coding gene gene with protein product 605195 mesoderm posterior 2 homolog (mouse) NA 11578861 Standard XM_085261 NM_001039958 NA Approved SCDO2, bHLHc6 uc002bon.3 Q0VG99 ENST00000560219.1:c.-12A>G chr15.hg19:g.90308110A>G NA Q7RTU2 hg19 0.02 3.70756 GCTxGGA COVERED NOVEL MESP2-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000416419.2 19 2.642076 KEEP 1 1 32 20 622 AA 0.999869 0.999868 0 + 9 60 284 1 0 19.288844 98 60 2806 178 ENST00000560219.1 0.084112 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 90515630 90515630 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:90515630T>C NA NA C15orf38 (59442 upstream) : ZNF710 (28993 downstream) NA NA NA cctgtaatcctaacactttgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.90515630T>C NA hg19 0.02 -0.333251 TCCxAAC COVERED NOVEL 0 7 2.708216 KEEP 0 0 0 9 282 TT 0.99254 0.845628 0 4 60 125 0 0 9.06436 30 60 871 61 0.117647 0.851984 ZNF774 342132 __UNKNOWN__ __UNKNOWN__ 15 90898052 90898052 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:90898052G>A ENST00000379090.5 + 2 195 ZNF774_ENST00000354377.3_Intron|ZNF774_ENST00000558115.1_Intron Q6NX45 ZN774_HUMAN zinc finger protein 774 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) tttgagacggggtctcgctct 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC067279 CCDS32330.1 15q26.1 2013-01-08 ENSG00000196391 342132 Zinc fingers, C2H2-type 33108 protein-coding gene gene with protein product NA Standard NM_001004309 NM_001004309 NA Approved MGC75360 uc002bpk.4 Q6NX45 ENST00000379090.5:c.104+56G>A chr15.hg19:g.90898052G>A NA A8K020 hg19 0.02 1.272081 CGGxGTC COVERED NOVEL ZNF774-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418051.1 6 3.444224 KEEP 0 1 33 23 767 GG 0.999909 0.999397 0 + 5 60 154 0 0 10.002552 64 60 2093 141 ENST00000379090.5 0.072464 0.999487 ZNF774 342132 __UNKNOWN__ __UNKNOWN__ 15 90905998 90905998 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:90905998C>G ENST00000379090.5 + 4 399 ZNF774_ENST00000354377.3_3'UTR Q6NX45 ZN774_HUMAN zinc finger protein 774 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) cacacacacacacacacacac 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC067279 CCDS32330.1 15q26.1 2013-01-08 ENSG00000196391 342132 Zinc fingers, C2H2-type 33108 protein-coding gene gene with protein product NA Standard NM_001004309 NM_001004309 NA Approved MGC75360 uc002bpk.4 Q6NX45 ENST00000379090.5:c.261+125C>G chr15.hg19:g.90905998C>G NA A8K020 hg19 0.02 1.654491 ACAxACA COVERED NOVEL ZNF774-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418051.1 5 11.437175 KEEP 0 0 0 38 1337 CC 1 0.989542 0 + 6 60 187 0 0 13.386035 48 60 1637 112 ENST00000379090.5 0.111111 0.989542 IQGAP1 8826 __UNKNOWN__ __UNKNOWN__ 15 90949670 90949670 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:90949670G>C ENST00000268182.5 + 2 279 IQGAP1_ENST00000560738.1_Intron NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 NA NA cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057) calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099) breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) gctgggattagaggcgtgagc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D29640 CCDS10362.1 15q26.1 2008-07-18 ENSG00000140575 ENSG00000140575 8826 6110 protein-coding gene gene with protein product RasGAP-like with IQ motifs 603379 NA 8051149, 8670801 Standard NM_003870 XM_005254984 NA Approved p195, KIAA0051, SAR1, HUMORFA01 uc002bpl.1 P46940 OTTHUMG00000149832 ENST00000268182.5:c.155+15565G>C chr15.hg19:g.90949670G>C NA A7MBM3 hg19 CCDS10362.1 0.02 -0.359662 TTAxAGG COVERED NOVEL IQGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313493.1 4 3.310802 KEEP 0 0 0 11 397 GG 0.993072 0.882717 0 + 3 60 105 0 0 7.486523 32 60 1083 80 ENST00000268182.5 0.085714 0.888875 CRTC3 64784 __UNKNOWN__ __UNKNOWN__ 15 91138619 91138619 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:91138619G>A ENST00000268184.6 + 3 355 CRTC3_ENST00000560098.1_Intron|CRTC3_ENST00000558619.1_Intron|CRTC3_ENST00000420329.2_Intron Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 NA NA energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|nucleus (GO:0005634) cAMP response element binding protein binding (GO:0008140) CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) cctggctaacgtggtgaaacc 0.552 NA T MAML2 salivary gland mucoepidermoid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 15 15q26.1 64784 CREB regulated transcription coactivator 3 E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32331.1, CCDS45348.1 15q26.1 2005-11-24 ENSG00000140577 64784 26148 protein-coding gene gene with protein product 608986 NA 14536081, 14506290 Standard NM_022769 NM_022769 NA Approved FLJ21868 uc002bpp.4 Q6UUV7 ENST00000268184.6:c.351+1632G>A chr15.hg19:g.91138619G>A NA Q6DK61|Q6DK62|Q8NF38|Q9H6U2 hg19 CCDS32331.1 0.02 -0.131565 AACxTGG COVERED NOVEL CRTC3-001 KNOWN NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417716.2 5 2.401874 KEEP 1 0 0 8 257 GG 0.99257 0.22747 0 + 3 60 84 0 0 6.572746 12 60 393 28 ENST00000268184.6 0.2 0.229173 BLM 641 __UNKNOWN__ __UNKNOWN__ 15 91295675 91295675 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:91295675A>G ENST00000560509.1 + 4 1010 BLM_ENST00000355112.3_Intron P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like NA NA alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723) cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657) annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) ccaaagtgctaggattacagg 0.428 NA Mis, N, F leukemia, lymphoma, skin squamous cell , other cancers Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Bloom Syndrome 15 15q26.1 641 Bloom Syndrome L, E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database U39817 CCDS10363.1, CCDS73782.1 15q26.1 2014-09-17 2009-03-19 ENSG00000197299 ENSG00000197299 641 1058 protein-coding gene gene with protein product 604610 Bloom syndrome NA 9388193 Standard NM_000057 NA Approved BS, RECQL3, RECQ2 uc002bpr.3 P54132 OTTHUMG00000149834 ENST00000560509.1:c.959+499A>G chr15.hg19:g.91295675A>G NA Q52M96 hg19 0.02 -0.131571 GCTxGGA COVERED NOVEL BLM-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417940.1 5 2.40657 KEEP 0 0 0 8 242 AA 0.99257 0.22747 0 + 4 60 135 0 0 11.923954 9 60 272 31 ENST00000560509.1 0.307692 0.229173 RCCD1 91433 __UNKNOWN__ __UNKNOWN__ 15 91498841 91498841 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:91498841G>A ENST00000555155.1 + 1 68 RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000394258.2_Intron A6NED2 RCCD1_HUMAN RCC1 domain containing 1 NA NA cytoplasm (GO:0005737)|plasma membrane (GO:0005886) breast(1)|kidney(1)|large_intestine(2) 4 Lung NSC(78;0.0987)|all_lung(78;0.175) Lung(145;0.189) taatcccaacgctttgggagg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32333.1 15q26.1 2005-10-21 2005-10-21 ENSG00000166965 91433 30457 protein-coding gene gene with protein product NA 12477932 Standard NM_033544 XM_006720763 NA Approved MGC14386 uc002bqk.3 A6NED2 ENST00000555155.1:c.-124+663G>A chr15.hg19:g.91498841G>A NA B2RTP9|Q29RX6 hg19 0.02 -0.236849 AACxCTT COVERED NOVEL RCCD1-006 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000414749.1 2 2.708553 KEEP 0 0 0 9 317 GG 0.99254 0.607839 0 + 3 60 92 0 0 6.595145 23 60 770 53 ENST00000555155.1 0.115385 0.612407 FAM174B 400451 __UNKNOWN__ __UNKNOWN__ 15 93161996 93161996 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:93161996G>A ENST00000327355.5 - 0 1468 RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000553393.1_Intron NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(1) 3 acacacacacgcacaGTTTTT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS45355.1 15q26.1 2012-10-03 ENSG00000185442 ENSG00000185442 400451 34339 protein-coding gene gene with protein product NA Standard NM_207446 NM_207446 NA Approved LOC400451, MGC102891 uc010boe.3 Q3ZCQ3 OTTHUMG00000171744 ENST00000327355.5:c.*690C>T chr15.hg19:g.93161996G>A NA Q3ZCR9|Q8NBH7 hg19 CCDS45355.1 0.02 -0.140323 CACxCAC COVERED NOVEL FAM174B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000414931.1 4 2.40734 KEEP 0 0 0 8 258 GG 0.99257 0.259026 0 - 3 60 87 0 0 6.973204 11 70 341 28 ENST00000327355.5 0.214286 0.260965 CHD2 1106 __UNKNOWN__ __UNKNOWN__ 15 93491820 93491820 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:93491820C>T ENST00000394196.4 + 13 2445 CHD2_ENST00000557381.1_Intron|CHD2_ENST00000536619.1_Intron|CHD2_ENST00000420239.2_Intron NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 NA NA cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) tcccagcactctgggaggccg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF006514 CCDS10374.2, CCDS45356.1 15q26 2008-07-18 ENSG00000173575 ENSG00000173575 1106 1917 protein-coding gene gene with protein product 602119 NA 9326634 Standard NM_001271 NM_001042572 NA Approved FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200 uc002bsp.3 O14647 OTTHUMG00000149845 ENST00000394196.4:c.1378-362C>T chr15.hg19:g.93491820C>T NA C6G482|Q96IP5 hg19 CCDS10374.2 0.02 -0.245548 ACTxTGG COVERED NOVEL CHD2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000313528.3 3 2.407977 KEEP 4 0 0 8 295 CC 0.99257 0.636582 0 + 4 60 120 1 0 9.063268 22 60 739 67 ENST00000394196.4 0.153846 0.641347 CHD2 1106 __UNKNOWN__ __UNKNOWN__ 15 93492063 93492063 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:93492063C>T ENST00000394196.4 + 13 2445 CHD2_ENST00000557381.1_Intron|CHD2_ENST00000536619.1_Intron|CHD2_ENST00000420239.2_Intron NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 NA NA cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) agcaagactccgtctcaaaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF006514 CCDS10374.2, CCDS45356.1 15q26 2008-07-18 ENSG00000173575 ENSG00000173575 1106 1917 protein-coding gene gene with protein product 602119 NA 9326634 Standard NM_001271 NM_001042572 NA Approved FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200 uc002bsp.3 O14647 OTTHUMG00000149845 ENST00000394196.4:c.1378-119C>T chr15.hg19:g.93492063C>T NA C6G482|Q96IP5 hg19 CCDS10374.2 0.02 2.909599 CTCxGTC COVERED NOVEL CHD2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000313528.3 11 12.019098 KEEP 1 0 0 40 1302 CC 1 0.999994 0 + 7 60 207 1 1 13.101652 91 60 2996 196 ENST00000394196.4 0.071429 0.999994 RP11-266O8.1 0 __UNKNOWN__ __UNKNOWN__ 15 93876167 93876167 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:93876167T>C ENST00000543286.1 + 0 545 NA NA NA gcctgtaatctcagcacttta 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000543286.1: chr15.hg19:g.93876167T>C NA hg19 0.02 -0.228057 ATCxCAG COVERED NOVEL RP11-266O8.1-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000415156.1 8 2.70835 KEEP 3 0 0 9 291 TT 0.99257 0.578599 0 + 3 60 99 0 0 7.464783 20 60 614 54 ENST00000543286.1 0.130435 0.58293 RP11-266O8.1 0 __UNKNOWN__ __UNKNOWN__ 15 94030515 94030515 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:94030515T>C ENST00000543286.1 + 0 545 NA NA NA gtggctcatgtttgtaatccc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000543286.1: chr15.hg19:g.94030515T>C NA hg19 0.02 -0.096478 ATGxTTG UNCOVERED NOVEL RP11-266O8.1-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000415156.1 2 2.407525 KEEP 0 0 0 8 263 TT 0.99257 0.119541 0 + 3 60 98 0 0 8.432585 8 60 235 27 ENST00000543286.1 0.272727 0.120436 NR2F2-AS1 644192 __UNKNOWN__ __UNKNOWN__ 15 96692131 96692131 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:96692131A>G ENST00000560800.1 - 0 263 NR2F2 antisense RNA 1 NA NA NA ccaaagtgctaggattacagg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK000872 15q26.2 2012-10-12 2012-08-15 ENSG00000247809 ENSG00000247809 644192 Long non-coding RNAs 44222 non-coding RNA RNA, long non-coding NR2F2 antisense RNA 1 (non-protein coding) NA Standard XR_109225 NR_102743 NA Approved uc002bto.2 OTTHUMG00000171855 ENST00000560800.1: chr15.hg19:g.96692131A>G NA hg19 0.02 -0.210502 GCTxGGA COVERED NOVEL NR2F2-AS1-006 KNOWN basic antisense NA antisense OTTHUMT00000415484.1 4 3.310246 KEEP 3 0 0 11 350 AA 0.99254 0.518266 0 - 3 60 96 0 0 7.165336 20 60 597 54 ENST00000560800.1 0.130435 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 97216856 97216856 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:97216856T>A NA NA RN7SKP254 (186735 upstream) : SPATA8-AS1 (98378 downstream) NA NA NA gggtttcaccttgttggtcag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.97216856T>A NA hg19 0.02 1.258535 ACCxTGT COVERED NOVEL 0 9 3.009543 KEEP 0 0 0 10 330 TT 0.993072 0.984099 0 5 60 140 0 1 9.080028 51 60 1525 104 0.089286 0.990964 RP11-168G16.2 0 __UNKNOWN__ __UNKNOWN__ 15 100926720 100926720 __UNKNOWN__ RNA SNP C C T rs189734684 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:100926720C>T ENST00000560718.1 + 0 54 NA NA NA ggattacaggcgtgagccacc 0.453 NA C||| 1 0.000199681 8e-04 0 5008 , , NA 15770 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000560718.1: chr15.hg19:g.100926720C>T NA hg19 0.02 -0.342099 AGGxGTG COVERED NOVEL RP11-168G16.2-002 KNOWN basic antisense NA antisense OTTHUMT00000417771.1 9 2.398219 KEEP 2 0 0 8 258 CC 0.99257 0.859313 0 + 4 60 112 0 0 7.82026 29 60 964 76 ENST00000560718.1 0.121212 0.865745 LINS 55180 __UNKNOWN__ __UNKNOWN__ 15 101109227 101109227 __UNKNOWN__ 3'UTR SNP A A G rs3751549 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:101109227A>G ENST00000314742.8 - 0 2712 NM_001040616.2 NP_001035706 Q8NG48 LINES_HUMAN lines homolog (Drosophila) NA NA central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 tactcgggagactgaggcagg 0.547 NA A||| 1559 0.311302 0.2375 0.2493 5008 , , NA 14091 0.246 NA 0.4503 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095448 CCDS10385.1 15q26.3 2010-09-08 2010-09-08 2010-09-08 ENSG00000140471 ENSG00000140471 55180 30922 protein-coding gene gene with protein product 610350 lines homolog 1 (Drosophila) LINS1 NA 12119551, 8889548 Standard NM_018148 NM_001040616 NA Approved WINS1 uc002bwg.3 Q8NG48 OTTHUMG00000149865 ENST00000314742.8:c.*216T>C chr15.hg19:g.101109227A>G NA Q96FW2|Q9NVQ3 hg19 CCDS10385.1 0.02 -0.254345 GAGxCTG COVERED NOVEL LINS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313592.1 4 4.513245 KEEP 1 0 0 15 475 AA 0.99649 0.691234 0 - 4 60 127 0 0 9.762856 22 60 648 51 ENST00000314742.8 0.153846 0.693668 RP11-299G20.2 0 __UNKNOWN__ __UNKNOWN__ 15 101842877 101842877 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:101842877G>A ENST00000558838.1 + 0 311 NA NA NA caggtgatccgcctgcctcgg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000558838.1: chr15.hg19:g.101842877G>A NA hg19 0.02 -0.16666 TCCxCCT COVERED NOVEL RP11-299G20.2-001 KNOWN basic antisense NA antisense OTTHUMT00000416802.1 11 2.708564 KEEP 5 0 0 9 303 GG 0.99257 0.351317 0 + 3 60 86 1 0 6.592355 14 60 463 49 ENST00000558838.1 0.176471 0.353947 RP11-89K11.1 0 __UNKNOWN__ __UNKNOWN__ 15 102279731 102279731 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:102279731T>G ENST00000560292.2 - 2 364 RP11-89K11.1_ENST00000558592.1_Intron NA NA lung(1) 1 gggcatggtgtctcacgcctg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000560292.2:c.133-2159A>C chr15.hg19:g.102279731T>G NA hg19 0.02 5.60149 GTGxCTC COVERED NOVEL RP11-89K11.1-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000417118.2 39 22.23405 KEEP 5 2 69 98 3135 TT 1 1 0 - 13 60 444 2 0 31.774269 128 60 3803 381 ENST00000560292.2 0.092199 1 RP11-89K11.1 0 __UNKNOWN__ __UNKNOWN__ 15 102279763 102279763 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:102279763T>C ENST00000560292.2 - 2 364 RP11-89K11.1_ENST00000558592.1_Intron NA NA lung(1) 1 ctttgggaggtggaggcaggt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000560292.2:c.133-2191A>G chr15.hg19:g.102279763T>C NA hg19 0.02 1.745987 AGGxGGA COVERED NOVEL RP11-89K11.1-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000417118.2 6 3.176798 KEEP 1 5 179 73 2273 TT 1 0.99994 0 - 5 60 172 0 0 11.279518 82 60 2455 221 ENST00000560292.2 0.057471 0.99994 RP11-89K11.1 0 __UNKNOWN__ __UNKNOWN__ 15 102279836 102279836 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:102279836A>T ENST00000560292.2 - 2 364 RP11-89K11.1_ENST00000558592.1_Intron NA NA lung(1) 1 ctatctttacaaaaaatacaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000560292.2:c.133-2264T>A chr15.hg19:g.102279836A>T NA hg19 0.02 -0.245479 TACxAAA COVERED NOVEL RP11-89K11.1-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000417118.2 2 4.812596 KEEP 1 0 0 16 473 AA 0.99649 0.639096 0 - 4 60 102 0 1 7.266368 22 60 622 47 ENST00000560292.2 0.153846 0.641347 DNM1P47 100216544 __UNKNOWN__ __UNKNOWN__ 15 102299987 102299987 __UNKNOWN__ RNA SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr15:102299987C>A ENST00000561463.1 + 0 8033 DNM1 pseudogene 47 NA NA NA CGCGTGGGAACGAGAAGACAC 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AJ576276 15q26.3 2013-04-25 ENSG00000259660 ENSG00000259660 100216544 35200 pseudogene pseudogene DNM1DN14@ NA Standard NG_009149 NG_009149 NA Approved DNM1DN14-3 OTTHUMG00000172265 ENST00000561463.1: chr15.hg19:g.102299987C>A NA hg19 0.02 -0.254338 GAAxGAG COVERED NOVEL DNM1P47-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417589.1 1 3.623932 KEEP 17 1 25 21 664 CC 0.997832 0.667074 0 + 6 40 166 0 0 13.044183 23 40 708 82 ENST00000561463.1 0.206897 0.668523 POLR3K 51728 __UNKNOWN__ __UNKNOWN__ 16 96483 96483 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:96483A>G ENST00000293860.5 - 0 1315 NM_016310.3 NP_057394.2 Q9Y2Y1 RPC10_HUMAN polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa NA NA defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383) cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270) central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) ccagcactttaggaggccgag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF051316 CCDS10395.1 16p13.3 2013-01-21 2002-08-29 ENSG00000161980 ENSG00000161980 51728 RNA polymerase subunits 14121 protein-coding gene gene with protein product 606007 polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa) NA 9869639, 10079944 Standard NM_016310 NM_016310 NA Approved RPC11 uc002cfi.2 Q9Y2Y1 OTTHUMG00000060722 ENST00000293860.5:c.*947T>C chr16.hg19:g.96483A>G NA Q1W6H4|Q96S35 hg19 CCDS10395.1 0.02 1.634364 TTTxGGA COVERED NOVEL POLR3K-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134192.1 18 3.618731 KEEP 1 3 112 51 1605 AA 1 0.999768 0 - 9 60 308 0 0 22.628294 76 60 2223 211 ENST00000293860.5 0.105882 0.999768 NPRL3 8131 __UNKNOWN__ __UNKNOWN__ 16 160648 160648 __UNKNOWN__ Intron SNP C C T rs377354383 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:160648C>T ENST00000405960.3 - 7 833 NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000399953.3_Intron Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) NA NA aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281) GTPase activator activity (GO:0005096) endometrium(1)|large_intestine(3)|ovary(2) 6 cgggttcaagcgattctcctg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C , 0,3810 0,0,1905 40 42 41 NA , 1.1 0 16 41 1,8205 0,1,4102 no intron,intron NPRL3 NM_001039476.2,NM_001077350.2 , 0,1,6007 TT,TC,CC NA 0.0122,0.0,0.0083 , , 160648 1,12015 1905 4103 6008 SO:0001627 intron_variant CCDS73794.1, CCDS73795.1 16p13.3 2011-01-06 2010-03-30 2010-03-30 ENSG00000103148 ENSG00000103148 8131 14124 protein-coding gene gene with protein product conserved gene telomeric to alpha globin cluster 600928 chromosome 16 open reading frame 35 C16orf35 NA 8575760 Standard NM_001039476 NM_001243247 NA Approved CGTHBA, RMD11, NPR3, MARE, HS-40 uc002cfr.3 Q12980 OTTHUMG00000047792 ENST00000405960.3:c.2048-44G>A chr16.hg19:g.160648C>T NA D3DU40|Q1W6H0|Q4TT56|Q92469 hg19 0.02 -0.420991 AAGxGAT COVERED NOVEL NPRL3-015 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000467385.1 9 6.614348 KEEP 0 0 0 22 694 CC 0.999892 0.9483 0 - 4 60 119 0 0 8.16568 36 60 1157 88 ENST00000405960.3 0.1 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 416959 416959 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:416959A>G NA NA AXIN1 (14286 upstream) : MRPL28 (424 downstream) NA NA NA tgtaatcccaacactttggca 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.416959A>G NA hg19 0.02 -0.184157 CCAxCAC COVERED NOVEL 0 3 2.407564 KEEP 0 0 0 8 261 AA 0.99257 0.454356 0 3 60 103 0 0 7.992275 18 60 530 35 0.142857 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 417187 417187 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:417187T>A NA NA AXIN1 (14514 upstream) : MRPL28 (196 downstream) NA NA NA cctgggtgactgagcaagact 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.417187T>A NA hg19 0.02 4.412623 GACxGAG COVERED NOVEL 0 21 2.308758 KEEP 0 6 186 73 2225 TT 1 1 0 9 60 255 0 1 14.987341 150 60 4474 347 0.056604 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 417199 417199 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:417199C>T NA NA AXIN1 (14526 upstream) : MRPL28 (184 downstream) NA NA NA agcaagactccgtctcaaaaa 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.417199C>T NA hg19 0.02 4.129543 CTCxGTC COVERED NOVEL 0 32 22.442934 KEEP 0 2 46 91 3042 CC 1 1 0 7 60 218 0 0 12.340701 171 60 5617 413 0.039326 1 TMEM8A 58986 __UNKNOWN__ __UNKNOWN__ 16 422555 422555 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:422555C>A ENST00000431232.2 - 12 2180 TMEM8A_ENST00000250930.3_Intron NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A NA NA cell adhesion (GO:0007155) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 GAGCAAGGGGCCAGGCTCTCT 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB045292 CCDS10407.1 16p13.3 2009-06-12 2009-06-12 2009-06-12 ENSG00000129925 ENSG00000129925 58986 17205 protein-coding gene gene with protein product transmembrane protein 6, transmembrane protein 8 (five membrane-spanning domains) TMEM6, TMEM8 NA 11006113 Standard NM_021259 NM_021259 NA Approved M83 uc002cgu.4 Q9HCN3 OTTHUMG00000047996 ENST00000431232.2:c.2019+55G>T chr16.hg19:g.422555C>A NA D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9 hg19 CCDS10407.1 0.02 4.540109 GGGxCAG COVERED . . . . . . . . . . C 7.654 0.683455 0.14907 . . ENSG00000129925 ENST00000448854 T 0.46063 0.88 2.5 2.5 0.30297 . . . . . T 0.43366 0.1244 . . . 0.58432 D 0.999997 . . . . . . T 0.25257 -1.0137 6 0.33141 T 0.24 . 8.6139 0.33820 0.0:1.0:0.0:0.0 . . . . V 240 ENSP00000401931:G240V ENSP00000401931:G240V G - 2 0 TMEM8A 362556 0.000000 0.05858 0.031000 0.17742 0.015000 0.08874 -0.229000 0.09098 1.742000 0.51746 0.455000 0.32223 GGC NOVEL TMEM8A-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000109257.2 1 41.227309 KEEP 0 0 0 137 4825 CC 1 1 0 - 35 60 1025 0 0 81.603254 136 60 4575 423 ENST00000431232.2 0.204678 1 RAB11FIP3 9727 __UNKNOWN__ __UNKNOWN__ 16 545014 545014 __UNKNOWN__ Intron SNP G G C rs4984885|rs71139789 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:545014G>C ENST00000262305.4 + 6 1653 RAB11FIP3_ENST00000457159.1_Intron|RAB11FIP3_ENST00000450428.1_Intron NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) NA NA cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192) centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037) ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) ctgcagaggtgggaggatcac 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(160;2366 2595 4474 8099) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014565 CCDS32351.1, CCDS45364.1 16p13.3 2013-01-10 ENSG00000090565 ENSG00000090565 9727 EF-hand domain containing 17224 protein-coding gene gene with protein product 608738 NA 9734811, 11481332 Standard NM_014700 NM_014700 NA Approved KIAA0665, Rab11-FIP3, eferin uc002chf.3 O75154 OTTHUMG00000047843 ENST00000262305.4:c.1266-1810G>C chr16.hg19:g.545014G>C NA B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0 hg19 CCDS32351.1 0.02 -0.131575 GGTxGGA UNCOVERED NOVEL RAB11FIP3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000109066.4 8 3.61037 KEEP 23 0 0 12 385 GG 0 0 0 + 4 60 122 0 0 10.470907 10 28 326 59 ENST00000262305.4 0.285714 0.229173 CAPN15 6650 __UNKNOWN__ __UNKNOWN__ 16 603727 603727 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:603727G>A ENST00000219611.2 + 0 3835 LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 O75808 CAN15_HUMAN calpain 15 NA NA proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737) calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA CCTCCTGGCCGCCACGCAGAA 0.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U85647 CCDS10410.1 16p13.3 2013-06-27 2013-06-27 2013-06-27 ENSG00000103326 ENSG00000103326 6650 11182 protein-coding gene gene with protein product 603267 small optic lobes (Drosophila) homolog, small optic lobes homolog (Drosophila) SOLH NA 9722942 Standard NM_005632 NM_005632 NA Approved uc002chi.3 O75808 OTTHUMG00000119059 ENST00000219611.2:c.*211G>A chr16.hg19:g.603727G>A NA B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0 hg19 CCDS10410.1 0.02 4.823996 GCCxCCA COVERED NOVEL CAPN15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239271.1 6 24.99374 KEEP 0 1 31 94 2971 GG 1 1 0 + 10 60 267 0 0 14.137624 197 60 6296 433 ENST00000219611.2 0.048309 1 UBE2I 7329 __UNKNOWN__ __UNKNOWN__ 16 1371703 1371703 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:1371703A>G ENST00000355803.4 + 6 964 UBE2I_ENST00000403747.2_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000402301.1_3'UTR|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000325437.5_Intron NM_194260.2 NP_919236.1 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I NA NA cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032) cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) gggaggcggaagttgcagtga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D45050 CCDS10433.1 16p13.3 2011-05-19 2011-05-19 ENSG00000103275 ENSG00000103275 7329 6.3.2.19 Ubiquitin-conjugating enzymes E2 12485 protein-coding gene gene with protein product 601661 ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9), ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast) NA 8565643 Standard NM_003345 NM_003345 NA Approved UBC9 uc002cld.2 P63279 OTTHUMG00000047845 ENST00000355803.4:c.413+1185A>G chr16.hg19:g.1371703A>G NA D3DU69|P50550|Q15698|Q59GX1|Q86VB3 hg19 CCDS10433.1 0.02 5.558389 GGAxGTT COVERED NOVEL UBE2I-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250317.2 37 4.802232 KEEP 0 3 103 52 1633 AA 1 1 0 + 7 60 224 0 0 13.234831 155 70 4478 256 ENST00000355803.4 0.04321 1 UNKL 64718 __UNKNOWN__ __UNKNOWN__ 16 1415261 1415261 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:1415261C>T ENST00000508903.2 - 0 3181 UNKL_ENST00000403703.1_3'UTR|UNKL_ENST00000397464.1_3'UTR|UNKL_ENST00000391893.2_3'UTR|UNKL_ENST00000389221.4_3'UTR|UNKL_ENST00000248104.7_3'UTR Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) gtgctgggatcacaggcatga 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC011924 CCDS32359.1, CCDS53980.1, CCDS61787.1 16p13.3 2014-03-10 2013-10-17 ENSG00000059145 ENSG00000059145 64718 Zinc fingers, CCCH-type domain containing 14184 protein-coding gene gene with protein product chromosome 16 open reading frame 28, unkempt homolog (Drosophila)-like C16orf28 NA 20148946 Standard NM_001037125 NM_001193389 NA Approved ZC3HDC5L, ZC3H5L, FLJ23360 uc031qup.1 Q9H9P5 OTTHUMG00000128553 ENST00000508903.2:c.*980G>A chr16.hg19:g.1415261C>T NA B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8 hg19 0.02 0.895616 GATxACA COVERED NOVEL UNKL-002 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000362481.2 10 2.577219 KEEP 0 2 61 30 1045 CC 0.999997 0.999216 0 - 6 60 162 0 0 9.998106 69 70 2300 167 ENST00000508903.2 0.08 0.999218 TELO2 9894 __UNKNOWN__ __UNKNOWN__ 16 1559734 1559734 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:1559734A>C ENST00000262319.6 + 21 2686 NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 NA NA regulation of TOR signaling (GO:0032006) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932) protein complex binding (GO:0032403) NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CCATGGAGTCAGGCCTGGCGG 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL080126 CCDS32363.1 16p13.3 2013-08-06 2013-08-06 ENSG00000100726 ENSG00000100726 9894 29099 protein-coding gene gene with protein product 611140 TEL2, telomere maintenance 2, homolog (S. cerevisiae) NA 9734811, 11230166, 12670948 Standard NM_016111 NM_016111 NA Approved KIAA0683, hCLK2, TEL2 uc002cly.3 Q9Y4R8 OTTHUMG00000044471 ENST00000262319.6:c.2408-97A>C chr16.hg19:g.1559734A>C NA D3DU73|O75168|Q7LDV4|Q9BR21 hg19 CCDS32363.1 0.02 -0.403432 GTCxGGC COVERED NOVEL TELO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103602.2 2 5.717217 KEEP 0 0 0 19 594 AA 0.99986 0.934361 0 + 9 60 301 0 0 24.521482 37 60 1074 79 ENST00000262319.6 0.195652 0.934492 FAHD1 81889 __UNKNOWN__ __UNKNOWN__ 16 1878031 1878031 __UNKNOWN__ 3'UTR SNP G G C rs1143032 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:1878031G>C ENST00000427358.2 + 0 807 FAHD1_ENST00000382666.4_Intron|FAHD1_ENST00000382668.4_Intron NM_031208.3 NP_112485.1 Q6P587 FAHD1_HUMAN fumarylacetoacetate hydrolase domain containing 1 NA NA cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872) NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1) 6 gcctgtaatcgcagcactttg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC063017 CCDS10448.1, CCDS32367.1, CCDS45380.1 16p13.3 2011-10-21 2004-08-19 2004-08-26 ENSG00000180185 ENSG00000180185 81889 14169 protein-coding gene gene with protein product chromosome 16 open reading frame 36 C16orf36 NA 21878618 Standard NM_001018104 NM_001018104 NA Approved DKFZP566J2046 uc002cnd.3 Q6P587 OTTHUMG00000128663 ENST00000427358.2:c.*126G>C chr16.hg19:g.1878031G>C NA B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6 hg19 CCDS10448.1 0.02 5.932799 ATCxCAG COVERED NOVEL FAHD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250550.2 12 23.725964 KEEP 0 8 287 179 6276 GG 1 1 0 + 7 60 243 0 0 15.512226 136 60 4595 430 ENST00000427358.2 0.048951 1 MEIOB 254528 __UNKNOWN__ __UNKNOWN__ 16 1888231 1888231 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:1888231C>G ENST00000325962.3 - 12 1228 FAHD1_ENST00000382666.4_Intron|MEIOB_ENST00000470044.1_Intron|MEIOB_ENST00000412554.2_Intron|MEIOB_ENST00000452149.2_Intron|MEIOB_ENST00000397344.3_Intron|FAHD1_ENST00000382668.4_Intron Q8N635 MEIOB_HUMAN meiosis specific with OB domains NA NA double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129) chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697) NA gaactcctggcctcaagtgat 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029829 CCDS10449.2, CCDS53983.1 16p13.3 2012-08-13 2012-08-13 2012-08-13 ENSG00000162039 ENSG00000162039 254528 28569 protein-coding gene gene with protein product chromosome 16 open reading frame 73 C16orf73 NA 12477932 Standard NM_152764 NM_152764 NA Approved MGC35212 uc010uvq.1 Q8N635 OTTHUMG00000128683 ENST00000325962.3:c.1219-360G>C chr16.hg19:g.1888231C>G NA B1AK39|C9J0S1|Q96RY0 hg19 CCDS53983.1 0.02 1.771513 TGGxCTC COVERED NOVEL MEIOB-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347846.1 4 7.591537 KEEP 0 2 56 45 1535 CC 1 0.986153 0 - 4 60 126 1 0 8.42369 47 60 1500 113 ENST00000325962.3 0.078431 0.986153 RPL3L 6123 __UNKNOWN__ __UNKNOWN__ 16 1994106 1994106 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:1994106A>G ENST00000268661.7 - 0 2050 NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 caccgcgcccagccagtttat 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U65581 CCDS10450.1 16p13.3 2008-02-05 ENSG00000140986 ENSG00000140986 6123 L ribosomal proteins 10351 protein-coding gene gene with protein product NA 8921388 Standard NM_005061 NM_005061 NA Approved uc002cnh.3 Q92901 OTTHUMG00000128685 ENST00000268661.7:c.*732T>C chr16.hg19:g.1994106A>G NA hg19 CCDS10450.1 0.02 1.687281 CCCxGCC COVERED NOVEL RPL3L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250582.2 8 9.864347 KEEP 4 1 38 46 1439 AA 1 0.999218 0 - 4 60 134 0 0 8.605541 68 60 1999 188 ENST00000268661.7 0.055556 0.999218 NTHL1 4913 __UNKNOWN__ __UNKNOWN__ 16 2092034 2092034 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:2092034T>G ENST00000219066.1 - 4 728 NTHL1_ENST00000562951.1_Intron NM_002528.5 NP_002519.1 nth endonuclease III-like 1 (E. coli) NA NA lung(1) 1 gattacaggcttgagcccttg 0.557 NA Base excision repair (BER), DNA glycosylases NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U81285 CCDS10457.1 16p13.3 2008-02-05 2001-11-28 ENSG00000065057 ENSG00000065057 4913 8028 protein-coding gene gene with protein product 602656 nth (E.coli endonuclease III)-like 1 NA 9045706, 8990169 Standard NM_002528 NM_002528 NA Approved NTH1, OCTS3 uc002col.1 P78549 OTTHUMG00000128744 ENST00000219066.1:c.709+1533A>C chr16.hg19:g.2092034T>G NA hg19 CCDS10457.1 0.02 1.473657 GGCxTGA COVERED NOVEL NTHL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250656.1 9 10.162027 KEEP 1 1 35 46 1384 TT 1 0.999919 0 - 4 60 136 1 0 8.427585 85 60 2475 188 ENST00000219066.1 0.044944 0.999919 ZNF205-AS1 81854 __UNKNOWN__ __UNKNOWN__ 16 3160873 3160873 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:3160873C>T ENST00000572691.1 - 0 806 ZNF205-AS1_ENST00000576943.1_RNA NR_024166.1|NR_024167.1 ZNF205 antisense RNA 1 NA NA NA gcaggagaatcgcttgaaccc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 16p13.3 2012-11-06 ENSG00000263214 ENSG00000263214 81854 Long non-coding RNAs 28586 non-coding RNA RNA, long non-coding NA 12477932 Standard NR_024166 NR_024166 NA Approved MGC3771 uc010btd.2 OTTHUMG00000177517 ENST00000572691.1: chr16.hg19:g.3160873C>T NA hg19 0.02 1.018431 AATxGCT COVERED NOVEL ZNF205-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000437319.1 6 3.74745 KEEP 1 1 33 24 832 CC 0.999931 0.995015 0 - 5 60 132 0 0 8.125719 55 60 1783 111 ENST00000572691.1 0.083333 0.995084 MEFV 4210 __UNKNOWN__ __UNKNOWN__ 16 3292604 3292604 __UNKNOWN__ 3'UTR SNP T T C rs182968771 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:3292604T>C ENST00000339854.4 - 0 2382 MEFV_ENST00000219596.1_3'UTR O15553 MEFV_HUMAN Mediterranean fever NA NA inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056) cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634) actin binding (GO:0003779)|zinc ion binding (GO:0008270) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 acctgggaggtggaggttgca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF018080 CCDS10498.1, CCDS55981.1 16p13.3 2014-09-17 ENSG00000103313 ENSG00000103313 4210 Tripartite motif containing / Tripartite motif containing 6998 protein-coding gene gene with protein product pyrin 608107 MEF NA 9288094 Standard NM_000243 NM_000243 NA Approved FMF, TRIM20 uc002cun.1 O15553 OTTHUMG00000129324 ENST00000339854.4:c.*537A>G chr16.hg19:g.3292604T>C NA D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5 hg19 0.02 -0.131495 AGGxGGA UNCOVERED NOVEL MEFV-010 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000398510.1 3 2.402574 KEEP 2 0 0 8 218 TT 0 0 0 - 3 40 92 0 0 7.583005 10 60 268 30 ENST00000339854.4 0.230769 0.229173 MEFV 4210 __UNKNOWN__ __UNKNOWN__ 16 3298504 3298504 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:3298504C>T ENST00000339854.4 - 4 856 MEFV_ENST00000541159.1_Intron|MEFV_ENST00000219596.1_Intron|MEFV_ENST00000536379.1_Intron O15553 MEFV_HUMAN Mediterranean fever NA NA inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056) cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634) actin binding (GO:0003779)|zinc ion binding (GO:0008270) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 gcaggagaatcgcttgaaccc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF018080 CCDS10498.1, CCDS55981.1 16p13.3 2014-09-17 ENSG00000103313 ENSG00000103313 4210 Tripartite motif containing / Tripartite motif containing 6998 protein-coding gene gene with protein product pyrin 608107 MEF NA 9288094 Standard NM_000243 NM_000243 NA Approved FMF, TRIM20 uc002cun.1 O15553 OTTHUMG00000129324 ENST00000339854.4:c.816+404G>A chr16.hg19:g.3298504C>T NA D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5 hg19 0.02 -0.333236 AATxGCT COVERED NOVEL MEFV-010 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000398510.1 1 3.611037 KEEP 0 0 0 12 384 CC 0.994391 0.860889 0 - 4 60 102 0 0 6.71803 31 60 956 59 ENST00000339854.4 0.114286 0.865745 MEFV 4210 __UNKNOWN__ __UNKNOWN__ 16 3304072 3304072 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:3304072C>T ENST00000339854.4 - 2 317 MEFV_ENST00000541159.1_Intron|MEFV_ENST00000219596.1_Intron|MEFV_ENST00000536379.1_Intron O15553 MEFV_HUMAN Mediterranean fever NA NA inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056) cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634) actin binding (GO:0003779)|zinc ion binding (GO:0008270) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 cctcccaaagcgctgggatta 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF018080 CCDS10498.1, CCDS55981.1 16p13.3 2014-09-17 ENSG00000103313 ENSG00000103313 4210 Tripartite motif containing / Tripartite motif containing 6998 protein-coding gene gene with protein product pyrin 608107 MEF NA 9288094 Standard NM_000243 NM_000243 NA Approved FMF, TRIM20 uc002cun.1 O15553 OTTHUMG00000129324 ENST00000339854.4:c.278-2023G>A chr16.hg19:g.3304072C>T NA D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5 hg19 0.02 -0.236802 AAGxGCT COVERED NOVEL MEFV-010 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000398510.1 1 2.242361 KEEP 0 1 33 19 647 CC 0.999863 0.641259 0 - 4 60 103 0 0 7.596632 19 60 616 54 ENST00000339854.4 0.173913 0.641347 ANKS3 124401 __UNKNOWN__ __UNKNOWN__ 16 4764732 4764732 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:4764732T>C ENST00000304283.4 - 7 868 ANKS3_ENST00000592711.1_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000585773.1_Intron NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 NA NA endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 cggtggctcatgcctgtaatc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057329 CCDS10520.1, CCDS73820.1 16p13.3 2013-01-10 ENSG00000168096 ENSG00000168096 124401 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 29422 protein-coding gene gene with protein product NA 11853319 Standard NM_133450 NM_133450 NA Approved KIAA1977, FLJ32345, FLJ32767 uc002cxj.2 Q6ZW76 OTTHUMG00000129478 ENST00000304283.4:c.574-545A>G chr16.hg19:g.4764732T>C NA B4DWU4|D3DUE2|Q8TF25 hg19 CCDS10520.1 0.02 -0.201729 TCAxGCC COVERED NOVEL ANKS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251642.3 3 2.708291 KEEP 1 0 0 9 284 TT 0.99254 0.486885 0 - 3 40 100 0 0 7.692128 18 60 537 52 ENST00000304283.4 0.142857 0.490544 RP11-10K17.6 0 __UNKNOWN__ __UNKNOWN__ 16 5189355 5189355 __UNKNOWN__ lincRNA SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:5189355T>G ENST00000589323.1 + 0 451 NA NA NA ttgcactccatcctgggcaac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000589323.1: chr16.hg19:g.5189355T>G NA hg19 0.02 -0.32452 CCAxCCT COVERED NOVEL RP11-10K17.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000440194.1 14 4.203682 KEEP 2 0 0 14 440 TT 0.995343 0.831824 0 + 4 60 140 0 0 10.616805 29 60 874 73 ENST00000589323.1 0.121212 0.835716 ABAT 18 __UNKNOWN__ __UNKNOWN__ 16 8805846 8805846 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:8805846T>C ENST00000268251.8 + 2 147 NM_020686.5 NP_065737.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase NA NA behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268) 4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005) (S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080) cctgtaatcctagcactttgg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L32961 CCDS10534.1 16p13.2 2011-01-10 ENSG00000183044 ENSG00000183044 18 2.6.1.19 23 protein-coding gene gene with protein product 4-aminobutyrate transaminase 137150 NA 7721088 Standard NM_020686 NM_020686 NA Approved GABAT uc002czc.4 P80404 OTTHUMG00000048201 ENST00000268251.8:c.-41-23710T>C chr16.hg19:g.8805846T>C NA A8K386|Q16260|Q8N5W2|Q96BG2|Q99800 hg19 CCDS10534.1 0.02 -0.219248 TCCxAGC COVERED NOVEL ABAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109648.2 3 2.708216 KEEP 0 0 0 9 281 TT 0.99254 0.548763 0 + 3 60 101 0 0 7.86099 17 60 488 45 ENST00000268251.8 0.15 0.552887 GRIN2A 2903 __UNKNOWN__ __UNKNOWN__ 16 10274194 10274194 __UNKNOWN__ Silent SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:10274194C>G ENST00000396573.2 - 3 384 c.75G>C c.(73-75)gcG>gcC p.A25A GRIN2A_ENST00000404927.2_Silent_p.A25A|GRIN2A_ENST00000396575.2_Silent_p.A25A|GRIN2A_ENST00000562109.1_Silent_p.A25A|GRIN2A_ENST00000330684.3_Silent_p.A25A NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 25 NA directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270) p.A25A(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) TCTCCGCCGCCGCGCTCGGCG 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) endometrium(1) 18 22 20 NA NA NA 16 NA NA 10274194 2187 4285 6472 SO:0001819 synonymous_variant CCDS10539.1, CCDS45407.1 16p13.2 2012-08-29 ENSG00000183454 ENSG00000183454 2903 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4585 protein-coding gene gene with protein product 138253 NMDAR2A NA 9480759 Standard XM_005255267 NA Approved GluN2A uc002czo.4 Q12879 OTTHUMG00000129721 ENST00000396573.2:c.75G>C chr16.hg19:g.10274194C>G NA O00669|Q17RZ6 hg19 CCDS10539.1 0.02 5.719415 CGCxGCG COVERED NOVEL GRIN2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251930.3 0 36.986636 KEEP 0 0 0 123 4129 CC 1 1 0 - 148 60 4856 0 0 506.974909 51 60 1661 477 ENST00000396573.2 0.743719 1 PRM1 5619 __UNKNOWN__ __UNKNOWN__ 16 11374867 11374867 __UNKNOWN__ Silent SNP C C T rs145663132 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:11374867C>T ENST00000312511.3 - 2 249 c.138G>A c.(136-138)ccG>ccA p.P46P RMI2_ENST00000572173.1_Intron NM_002761.2 NP_002752.1 P04553 HSP1_HUMAN protamine 1 46 NA cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) nucleoplasm (GO:0005654)|nucleosome (GO:0000786) DNA binding (GO:0003677) p.0?(1) large_intestine(2)|skin(2) 4 TTCTACATCGCGGTCTGTACC 0.542 NA C||| 5 0.000998403 0 0 5008 , , NA 17859 0.005 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 1 Whole gene deletion(1) haematopoietic_and_lymphoid_tissue(1) C 2,4392 0,2,2195 243 246 245 NA 138 -3 0 16 dbSNP_134 245 0,8600 0,0,4300 no coding-synonymous PRM1 NM_002761.2 0,2,6495 TT,TC,CC NA 0.0,0.0455,0.0154 46/52 11374867 2,12992 2197 4300 6497 SO:0001819 synonymous_variant CCDS10547.1 16p13.2 2009-08-06 ENSG00000175646 ENSG00000175646 5619 9447 protein-coding gene gene with protein product cancer/testis antigen family 94, member 1 182880 NA Standard NM_002761 NA Approved CT94.1 uc002dav.3 P04553 OTTHUMG00000090521 ENST00000312511.3:c.138G>A chr16.hg19:g.11374867C>T NA hg19 CCDS10547.1 0.02 1.333261 TCGxGGT COVERED NOVEL PRM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207010.1 0 21.966635 KEEP 0 0 0 73 2372 CC 1 0.998696 0 - 12 60 340 0 0 25.412095 63 60 2011 185 ENST00000312511.3 0.16 0.998696 CTD-3088G3.8 0 __UNKNOWN__ __UNKNOWN__ 16 11536919 11536919 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:11536919G>C ENST00000344649.3 - 22 3221 NA NA NA gtggttcatggctgtaatccc 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000344649.3:c.1650+320C>G chr16.hg19:g.11536919G>C NA hg19 0.02 -0.105269 ATGxCTG UNCOVERED NOVEL CTD-3088G3.8-201 KNOWN basic|appris_principal protein_coding NA protein_coding 5 2.708931 KEEP 0 0 0 9 328 GG 0.99254 0.138789 0 - 3 60 102 0 0 8.832281 8 60 268 26 ENST00000344649.3 0.272727 0.139832 ZC3H7A 29066 __UNKNOWN__ __UNKNOWN__ 16 11849926 11849926 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:11849926A>G ENST00000396516.2 - 20 2760 ZC3H7A_ENST00000355758.4_Intron|ZC3H7A_ENST00000575984.1_Intron Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A NA NA nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 ggctgaggcaagagaattgct 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161540 CCDS10550.1 16p13-p12 2013-01-11 2005-06-02 2005-06-08 ENSG00000122299 ENSG00000122299 29066 Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing 30959 protein-coding gene gene with protein product zinc finger CCCH-type domain containing 7, zinc finger CCCH-type containing 7 ZC3HDC7, ZC3H7 NA 11042152 Standard NM_014153 NM_014153 NA Approved HSPC055, FLJ20318 uc002dbl.3 Q8IWR0 OTTHUMG00000129825 ENST00000396516.2:c.2562+166T>C chr16.hg19:g.11849926A>G NA D3DUG5|Q9NPE9 hg19 CCDS10550.1 0.02 -0.254318 GCAxGAG COVERED NOVEL ZC3H7A-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437066.1 2 4.247047 KEEP 1 1 28 24 794 AA 0.999931 0.717266 0 - 3 60 92 0 0 6.650785 22 60 640 61 ENST00000396516.2 0.12 0.717315 ZC3H7A 29066 __UNKNOWN__ __UNKNOWN__ 16 11857209 11857209 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:11857209T>C ENST00000396516.2 - 15 2200 ZC3H7A_ENST00000355758.4_Intron Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A NA NA nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 aagtgatccatctgcctcagc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161540 CCDS10550.1 16p13-p12 2013-01-11 2005-06-02 2005-06-08 ENSG00000122299 ENSG00000122299 29066 Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing 30959 protein-coding gene gene with protein product zinc finger CCCH-type domain containing 7, zinc finger CCCH-type containing 7 ZC3HDC7, ZC3H7 NA 11042152 Standard NM_014153 NM_014153 NA Approved HSPC055, FLJ20318 uc002dbl.3 Q8IWR0 OTTHUMG00000129825 ENST00000396516.2:c.2002+124A>G chr16.hg19:g.11857209T>C NA D3DUG5|Q9NPE9 hg19 CCDS10550.1 0.02 -0.254332 CCAxCTG COVERED NOVEL ZC3H7A-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437066.1 3 3.909656 KEEP 0 0 0 13 375 TT 0.994391 0.664773 0 - 3 60 104 1 0 7.964826 20 60 573 53 ENST00000396516.2 0.130435 0.668523 GSPT1 2935 __UNKNOWN__ __UNKNOWN__ 16 11968977 11968977 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:11968977T>C ENST00000434724.2 - 14 2061 GSPT1_ENST00000420576.2_Intron|GSPT1_ENST00000563468.1_Intron|GSPT1_ENST00000439887.2_Intron|RP11-166B2.8_ENST00000574364.1_RNA NM_001130006.1|NM_002094.3 NP_001123478.1|NP_002085 P15170 ERF3A_HUMAN G1 to S phase transition 1 NA NA G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415) intracellular (GO:0005622) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747) breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 14 acctgggaggtggagcttgca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008391 CCDS45412.1, CCDS45413.1, CCDS45414.1 16p13.1 2008-08-01 2935 4621 protein-coding gene gene with protein product 139259 NA 2511002, 17700517 Standard NM_002094 NM_002094 NA Approved GST1, ETF3A, eRF3a uc002dbt.3 P15170 ENST00000434724.2:c.1861+640A>G chr16.hg19:g.11968977T>C NA J3KQG6|Q96GF2 hg19 CCDS45412.1 0.02 -0.252752 AGGxGGA COVERED NOVEL GSPT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421510.1 5 4.505891 KEEP 2 0 0 15 403 TT 0.99649 0.666177 0 - 4 60 94 0 0 6.598501 21 60 565 53 ENST00000434724.2 0.16 0.668523 GSPT1 2935 __UNKNOWN__ __UNKNOWN__ 16 11969024 11969024 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:11969024T>C ENST00000434724.2 - 14 2061 GSPT1_ENST00000420576.2_Intron|GSPT1_ENST00000563468.1_Intron|GSPT1_ENST00000439887.2_Intron|RP11-166B2.8_ENST00000574364.1_RNA NM_001130006.1|NM_002094.3 NP_001123478.1|NP_002085 P15170 ERF3A_HUMAN G1 to S phase transition 1 NA NA G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415) intracellular (GO:0005622) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747) breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 14 ccagcctgggtgacagatcga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008391 CCDS45412.1, CCDS45413.1, CCDS45414.1 16p13.1 2008-08-01 2935 4621 protein-coding gene gene with protein product 139259 NA 2511002, 17700517 Standard NM_002094 NM_002094 NA Approved GST1, ETF3A, eRF3a uc002dbt.3 P15170 ENST00000434724.2:c.1861+593A>G chr16.hg19:g.11969024T>C NA J3KQG6|Q96GF2 hg19 CCDS45412.1 0.02 -0.438428 GGGxGAC COVERED NOVEL GSPT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421510.1 8 2.843851 KEEP 3 1 36 22 683 TT 0.999892 0.959755 0 - 3 60 105 1 0 7.177215 41 60 1183 115 ENST00000434724.2 0.068182 0.959859 SNX29 92017 __UNKNOWN__ __UNKNOWN__ 16 12369970 12369970 __UNKNOWN__ Intron SNP G G A rs8058876 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:12369970G>A ENST00000566228.1 + 15 1747 SNX29_ENST00000323433.4_Intron|SNX29_ENST00000306030.3_Intron NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 NA NA extracellular vesicular exosome (GO:0070062) phosphatidylinositol binding (GO:0035091) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 ggctggtttcggactcctgac 0.522 NA G||| 2310 0.461262 0.5356 0.4712 5008 , , NA 10219 0.4524 NA 0.5775 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074072 CCDS10553.2 16p13.13-p13.12 2011-08-16 ENSG00000048471 ENSG00000048471 92017 Sorting nexins 30542 protein-coding gene gene with protein product RUN domain containing 2A RUNDC2A NA 16782399 Standard XM_005255682 NA Approved FLJ12363 uc002dby.5 Q8TEQ0 ENST00000566228.1:c.1679-1820G>A chr16.hg19:g.12369970G>A NA B5MDW2|Q8N2X2|Q9HA26 hg19 CCDS10553.2 0.02 -0.035083 TTCxGAC UNCOVERED NOVEL SNX29-005 PUTATIVE not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422622.1 3 2.40627 KEEP 0 0 0 8 244 GG 0.99257 0.019833 0 + 4 60 119 0 0 13.806611 0 0 0 15 ENST00000566228.1 1 0.019982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 14528706 14528706 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:14528706T>A NA NA RP11-65J21.4 (15977 upstream) : PARN (851 downstream) NA NA NA ttgtattttttgtagagatgg 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.14528706T>A NA hg19 0.02 -0.192936 TTTxGTA COVERED NOVEL 0 6 2.708201 KEEP 1 0 0 9 282 TT 0.99254 0.454342 0 3 60 87 0 1 6.534286 16 60 470 43 0.157895 0.457757 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15092348 15092348 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:15092348A>C ENST00000396410.4 + 3 258 PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000569715.1_Intron|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000563679.1_Intron|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000325823.7_Intron|PDXDC1_ENST00000450288.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 NA NA carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 gttgcccaggatggtgtgcag 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.161+86A>C chr16.hg19:g.15092348A>C NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 -0.4384 AGGxTGG COVERED NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 3 6.955082 KEEP 0 1 37 36 1083 AA 1 0.959859 0 + 3 60 100 0 0 6.561133 45 60 1234 93 ENST00000396410.4 0.0625 0.959859 RRN3 54700 __UNKNOWN__ __UNKNOWN__ 16 15159001 15159001 __UNKNOWN__ Intron SNP C C T rs148347276 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:15159001C>T ENST00000198767.6 - 16 1790 RRN3_ENST00000327307.7_Intron|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Intron|RRN3_ENST00000563559.1_Intron|RRN3_ENST00000540462.1_Intron NM_018427.3 NP_060897.3 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) NA NA cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 ccagcctgggcgacagagtga 0.532 NA .||| 116 0.0231629 0.003 0.0173 5008 , , NA 12666 0.0615 NA 0.0258 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF227156 CCDS10559.1, CCDS73833.1 16p13.11 2009-10-26 2006-04-04 ENSG00000085721 ENSG00000085721 54700 30346 protein-coding gene gene with protein product 605121 RRN3 RNA polymerase I transcription factor homolog (yeast) NA 10758157, 11250903 Standard NM_018427 XM_005255375 NA Approved DKFZp566E104 uc002dde.3 Q9NYV6 OTTHUMG00000129847 ENST00000198767.6:c.1706+74G>A chr16.hg19:g.15159001C>T NA A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0 hg19 CCDS10559.1 0.02 -0.41224 GGGxGAC COVERED NOVEL RRN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252087.2 0 8.094938 KEEP 1 2 57 47 1686 CC 1 0.941741 0 - 4 60 105 0 0 7.12275 29 60 952 98 ENST00000198767.6 0.121212 0.941741 C16orf45 89927 __UNKNOWN__ __UNKNOWN__ 16 15677246 15677246 __UNKNOWN__ Intron SNP T T C rs75620852 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:15677246T>C ENST00000566490.1 + 4 598 C16orf45_ENST00000565913.1_Intron|C16orf45_ENST00000452191.2_Intron|C16orf45_ENST00000300006.4_Intron|C16orf45_ENST00000561692.1_Intron Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 NA NA endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 accagcctggtcaacatggtg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057180 CCDS10561.1, CCDS45422.1 16p13.2 2012-10-09 ENSG00000166780 ENSG00000166780 89927 19213 protein-coding gene gene with protein product NA Standard NM_033201 NM_033201 NA Approved FLJ32618 uc002ddo.3 Q96MC5 OTTHUMG00000129883 ENST00000566490.1:c.419+2058T>C chr16.hg19:g.15677246T>C NA O00223|O75769|Q8IZ36|Q96H25 hg19 0.02 -0.105099 TGGxCAA UNCOVERED NOVEL C16orf45-004 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000422455.1 0 2.402472 KEEP 0 0 0 8 243 TT 0.99257 0.138793 0 + 3 60 91 0 0 7.60357 9 60 233 22 ENST00000566490.1 0.25 0.139832 NDE1 54820 __UNKNOWN__ __UNKNOWN__ 16 15788244 15788244 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:15788244T>C ENST00000396355.1 + 8 1621 NDE1_ENST00000396353.2_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 NA NA centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496) centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616) microtubule binding (GO:0008017) endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 gctctgttgctcaggctggag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF124431 CCDS10564.1 16p13.11 2013-08-06 2013-08-06 ENSG00000072864 ENSG00000072864 54820 17619 protein-coding gene gene with protein product 609449 nudE nuclear distribution gene E homolog 1 (A. nidulans), nudE nuclear distribution E homolog 1 (A. nidulans) NA 10940388, 12427674 Standard NM_017668 NM_017668 NA Approved nudE, FLJ20101, NDE uc002dds.3 Q9NXR1 OTTHUMG00000129885 ENST00000396355.1:c.795+131T>C chr16.hg19:g.15788244T>C NA Q49AQ2 hg19 CCDS10564.1 0.02 -0.184185 TGCxCAG COVERED NOVEL NDE1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000252133.1 4 3.611253 KEEP 0 0 0 12 390 TT 0.993634 0.420782 0 + 3 60 102 0 0 8.11012 15 60 446 39 ENST00000396355.1 0.166667 0.423478 FOPNL 123811 __UNKNOWN__ __UNKNOWN__ 16 15960275 15960275 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:15960275G>C ENST00000255759.6 - 0 1576 FOPNL_ENST00000573968.1_3'UTR NM_144600.2 NP_653201.1 Q96NB1 FOPNL_HUMAN FGFR1OP N-terminal like NA NA cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453) centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634) breast(1)|large_intestine(1)|lung(5)|stomach(4) 11 TGCCAATCAGGAGCTGTCTAT 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832498 CCDS10567.1 16p13.11 2011-03-18 2011-03-18 2011-03-18 ENSG00000133393 ENSG00000133393 123811 26435 protein-coding gene gene with protein product pluripotent embryonic stem cell-related protein, FOP-related protein of 20 kDa chromosome 16 open reading frame 63 C16orf63 NA 12477932 Standard NM_144600 NM_144600 NA Approved DKFZp686N1651, FLJ31153, PHSECRG2, FOR20 uc002dec.1 Q96NB1 OTTHUMG00000129923 ENST00000255759.6:c.*1022C>G chr16.hg19:g.15960275G>C NA B3KPU9 hg19 CCDS10567.1 0.02 -0.289493 CAGxAGC COVERED NOVEL FOPNL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252177.2 1 15.349215 KEEP 0 0 0 51 1748 GG 1 0.760887 0 - 20 60 687 0 0 69.947679 10 60 330 123 ENST00000255759.6 0.666667 0.760887 FOPNL 123811 __UNKNOWN__ __UNKNOWN__ 16 15960987 15960987 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:15960987T>C ENST00000255759.6 - 0 864 FOPNL_ENST00000573968.1_3'UTR NM_144600.2 NP_653201.1 Q96NB1 FOPNL_HUMAN FGFR1OP N-terminal like NA NA cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453) centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634) breast(1)|large_intestine(1)|lung(5)|stomach(4) 11 atcacttgaatccgggaggca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832498 CCDS10567.1 16p13.11 2011-03-18 2011-03-18 2011-03-18 ENSG00000133393 ENSG00000133393 123811 26435 protein-coding gene gene with protein product pluripotent embryonic stem cell-related protein, FOP-related protein of 20 kDa chromosome 16 open reading frame 63 C16orf63 NA 12477932 Standard NM_144600 NM_144600 NA Approved DKFZp686N1651, FLJ31153, PHSECRG2, FOR20 uc002dec.1 Q96NB1 OTTHUMG00000129923 ENST00000255759.6:c.*310A>G chr16.hg19:g.15960987T>C NA B3KPU9 hg19 CCDS10567.1 0.02 -0.131528 GAAxCCG COVERED NOVEL FOPNL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252177.2 0 2.70798 KEEP 0 0 0 9 273 TT 0.99254 0.227464 0 - 4 60 129 0 0 11.172146 10 60 264 27 ENST00000255759.6 0.285714 0.229173 RPS15A 6210 __UNKNOWN__ __UNKNOWN__ 16 18797832 18797832 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:18797832A>G ENST00000565420.1 - 3 582 RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000576436.1_Intron|RPS15A_ENST00000569083.1_Intron|RPS15A_ENST00000322989.4_Intron|RPS15A_ENST00000563390.1_Intron P62244 RS15A_HUMAN ribosomal protein S15a NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) endometrium(1)|large_intestine(1) 2 gggcccagtgactcacacctg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007154 CCDS10571.1 16p12.3 2011-04-05 ENSG00000134419 ENSG00000134419 6210 S ribosomal proteins 10389 protein-coding gene gene with protein product 603674 NA 9582194 Standard NM_001019 NM_001019 NA Approved S15A uc002dfi.1 P62244 OTTHUMG00000131365 ENST00000565420.1:c.213+1552T>C chr16.hg19:g.18797832A>G NA P39027|P39031|Q3MHD9|Q8C023|Q9BV24 hg19 CCDS10571.1 0.02 -0.166623 GTGxCTC COVERED NOVEL RPS15A-005 KNOWN alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000435778.1 3 4.211961 KEEP 0 0 0 14 416 AA 0.995343 0.352299 0 - 3 60 102 0 0 8.033458 16 60 457 43 ENST00000565420.1 0.157895 0.353947 SMG1 23049 __UNKNOWN__ __UNKNOWN__ 16 18819374 18819374 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:18819374T>C ENST00000446231.2 - 0 12915 SMG1_ENST00000389467.3_3'UTR|RP11-1035H13.2_ENST00000569096.1_RNA Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase NA NA DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 tgagccactgtgcccagccAA 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB061371 CCDS45430.1 16p12.3 2013-07-02 2013-07-02 ENSG00000157106 ENSG00000157106 23049 30045 protein-coding gene gene with protein product phosphatidylinositol 3-kinase-related kinase 607032 smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) NA 9455477, 11331269, 17229728 Standard NM_015092 NM_015092 NA Approved LIP, KIAA0421, ATX uc002dfm.3 Q96Q15 OTTHUMG00000166900 ENST00000446231.2:c.*1517A>G chr16.hg19:g.18819374T>C NA O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3 hg19 CCDS45430.1 0.02 -0.149013 CTGxGCC COVERED NOVEL SMG1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000391817.1 3 3.008617 KEEP 0 0 0 10 308 TT 0.992708 0.289872 0 - 3 40 84 0 0 6.397823 14 60 408 35 ENST00000446231.2 0.176471 0.292001 SMG1 23049 __UNKNOWN__ __UNKNOWN__ 16 18840712 18840712 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:18840712C>T ENST00000446231.2 - 54 9911 c.9499G>A c.(9499-9501)Gac>Aac p.D3167N SMG1_ENST00000389467.3_Missense_Mutation_p.D3167N Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3167 NA DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CAGGCAGTGTCGTAAGAACTT 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 82 78 80 NA NA NA 16 NA NA 18840712 1946 4147 6093 SO:0001583 missense AB061371 CCDS45430.1 16p12.3 2013-07-02 2013-07-02 ENSG00000157106 ENSG00000157106 23049 30045 protein-coding gene gene with protein product phosphatidylinositol 3-kinase-related kinase 607032 smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) NA 9455477, 11331269, 17229728 Standard NM_015092 NM_015092 NA Approved LIP, KIAA0421, ATX uc002dfm.3 Q96Q15 OTTHUMG00000166900 ENST00000446231.2:c.9499G>A chr16.hg19:g.18840712C>T ENSP00000402515:p.Asp3167Asn NA O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3 hg19 CCDS45430.1 0.02 1.287702 TGTxGTA COVERED . . . . . . . . . . C 19.65 3.866559 0.72065 . . ENSG00000157106 ENST00000446231;ENST00000389467 T;T 0.01126 5.3;5.3 5.89 4.93 0.64822 . 0.244370 0.35585 N 0.003102 T 0.01287 0.0042 L 0.27053 0.805 0.43907 D 0.996547 P 0.44044 0.825 B 0.35240 0.198 T 0.71038 -0.4708 10 0.62326 D 0.03 . 17.0636 0.86554 0.0:0.873:0.127:0.0 . 3167 Q96Q15 SMG1_HUMAN N 3167 ENSP00000402515:D3167N;ENSP00000374118:D3167N ENSP00000374118:D3167N D - 1 0 SMG1 18748213 1.000000 0.71417 0.836000 0.33094 0.960000 0.62799 7.786000 0.85741 1.466000 0.48025 0.585000 0.79938 GAC NOVEL SMG1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000391817.1 2 22.871635 KEEP 0 0 0 76 2547 CC 1 0.996233 0 - 5 60 139 0 0 8.511821 64 60 1994 186 ENST00000446231.2 0.072464 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 18937995 18937995 __UNKNOWN__ IGR SNP C C T rs150660539 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:18937995C>T NA NA SMG1 (219 upstream) : CTD-2288F12.1 (189 downstream) NA NA NA TTCTCCCAAACGCTTCCCGGA 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.18937995C>T NA hg19 0.02 1.245533 AAAxGCT COVERED NOVEL 0 0 5.519718 KEEP 1 3 93 51 1728 CC 1 0.999622 0 16 49 487 1 0 38.575595 68 60 2189 204 0.190476 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 18938021 18938021 __UNKNOWN__ IGR SNP G G A rs181234725 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:18938021G>A NA NA SMG1 (245 upstream) : CTD-2288F12.1 (163 downstream) NA NA NA CCGGAGGGCCGGGCAGTCAGG 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.18938021G>A NA hg19 0.02 1.234341 GCCxGGC COVERED NOVEL 0 0 5.774614 KEEP 1 2 62 41 1360 GG 1 0.998465 0 9 39 257 0 0 18.052025 66 60 2165 159 0.12 0.998465 TMC7 79905 __UNKNOWN__ __UNKNOWN__ 16 18999350 18999350 __UNKNOWN__ Intron SNP G G A rs12922564 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:18999350G>A ENST00000304381.5 + 1 197 TMC7_ENST00000421369.3_Intron|TMC7_ENST00000569532.1_Intron NM_024847.3 NP_079123.3 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 NA NA ion transport (GO:0006811) integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CTTGTTTTTAGAGACAGGGTT 0.537 NA G||| 1173 0.234225 0.1959 0.3069 5008 , , NA 17228 0.1151 NA 0.3131 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY263165 CCDS10573.1, CCDS53992.1, CCDS73837.1 16p13.11 2008-02-05 ENSG00000170537 ENSG00000170537 79905 23000 protein-coding gene gene with protein product NA 12812529, 12906855 Standard NM_024847 XM_005255597 NA Approved FLJ21240 uc002dfq.3 Q7Z402 OTTHUMG00000131456 ENST00000304381.5:c.67+3898G>A chr16.hg19:g.18999350G>A NA E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766 hg19 CCDS10573.1 0.02 1.091949 TTAxAGA COVERED NOVEL TMC7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254276.3 14 15.650817 KEEP 5 0 0 52 1862 GG 1 0.999218 0 + 5 47 141 0 0 8.433791 73 60 2467 188 ENST00000304381.5 0.064103 0.999218 C16orf62 57020 __UNKNOWN__ __UNKNOWN__ 16 19700507 19700507 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:19700507A>G ENST00000438132.3 + 29 2842 C16orf62_ENST00000448695.1_Intron|C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000251143.5_Intron|C16orf62_ENST00000417362.2_Intron NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 NA NA integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 caccatgttgaccaggatggt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32397.1, CCDS32397.2, CCDS73840.1 16p12.3 2012-05-30 ENSG00000103544 ENSG00000103544 57020 24641 protein-coding gene gene with protein product NA 10493829 Standard NM_020314 NM_020314 NA Approved MGC16824 uc002dgn.3 Q7Z3J2 OTTHUMG00000167925 ENST00000438132.3:c.2795-2168A>G chr16.hg19:g.19700507A>G NA A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8 hg19 CCDS32397.2 0.02 -0.087696 TTGxCCA UNCOVERED NOVEL C16orf62-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000397058.2 9 3.911228 KEEP 3 0 0 13 402 AA 0.993634 0.099086 0 + 3 31 88 0 0 7.743269 6 60 175 36 ENST00000438132.3 0.333333 0.099721 DCUN1D3 123879 __UNKNOWN__ __UNKNOWN__ 16 20870882 20870882 __UNKNOWN__ 3'UTR SNP C C A rs368994799|rs113864168 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:20870882C>A ENST00000324344.4 - 0 1526 DCUN1D3_ENST00000563934.1_3'UTR|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 NA NA negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225) perinuclear region of cytoplasm (GO:0048471) NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) aaaaaaaaaacaaaaaaaaac 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC040442 CCDS10592.1 16p12.3 2013-06-10 2013-06-10 ENSG00000188215 ENSG00000188215 123879 28734 protein-coding gene gene with protein product DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) NA 15988528 Standard NM_173475 NM_173475 NA Approved MGC48972, FLJ41725, DKFZp686O0290 uc002dhz.3 Q8IWE4 OTTHUMG00000131553 ENST00000324344.4:c.*326G>T chr16.hg19:g.20870882C>A NA B3KVY4 hg19 CCDS10592.1 0.02 -0.396125 AAAxAAA COVERED NOVEL DCUN1D3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254415.2 9 5.914295 KEEP 2 4 55 40 1210 CC 1 0.934492 0 - 5 60 102 2 1 6.846989 25 60 670 117 ENST00000324344.4 0.166667 0.934492 EEF2K 29904 __UNKNOWN__ __UNKNOWN__ 16 22295687 22295687 __UNKNOWN__ 3'UTR SNP C C T rs186113573 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:22295687C>T ENST00000263026.5 + 0 3022 NM_013302.3 NP_037434 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase NA NA insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414) cytoplasm (GO:0005737)|cytosol (GO:0005829) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135) breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) ctgcaacctccgcctcctggg 0.468 NA C||| 1 0.000199681 8e-04 0 5008 , , NA 17841 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NSCLC(195;1411 2157 20319 27471 51856) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U93850 CCDS10604.1 16p12 2008-02-05 ENSG00000103319 ENSG00000103319 29904 24615 protein-coding gene gene with protein product 606968 NA 9144159, 12051769 Standard NM_013302 NM_013302 NA Approved eEF-2K uc002dki.3 O00418 OTTHUMG00000094771 ENST00000263026.5:c.*370C>T chr16.hg19:g.22295687C>T NA Q8N588 hg19 CCDS10604.1 0.02 -0.175402 CTCxGCC COVERED NOVEL EEF2K-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211580.2 4 7.221052 KEEP 2 0 0 24 744 CC 0.999909 0.387372 0 + 3 60 88 0 0 6.792458 14 60 417 48 ENST00000263026.5 0.176471 0.387407 USP31 57478 __UNKNOWN__ __UNKNOWN__ 16 23135072 23135072 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:23135072A>G ENST00000219689.7 - 2 633 NM_020718.3 NP_065769.3 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 31 NA NA ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ubiquitin-specific protease activity (GO:0004843) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) tgtaatcccaacactttggga 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033029 CCDS10607.1 16p12.3 2008-02-05 2005-08-08 ENSG00000103404 ENSG00000103404 57478 Ubiquitin-specific peptidases 20060 protein-coding gene gene with protein product ubiquitin specific protease 31 NA 12838346 Standard NM_020718 NM_020718 NA Approved KIAA1203 uc002dll.3 Q70CQ4 OTTHUMG00000094793 ENST00000219689.7:c.634-15568T>C chr16.hg19:g.23135072A>G NA B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0 hg19 CCDS10607.1 0.02 -0.052614 CCAxCAC UNCOVERED NOVEL USP31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211607.1 6 2.708158 KEEP 0 0 0 9 281 AA 0.99254 0.036491 0 - 2 60 71 0 0 6.396224 4 60 114 19 ENST00000219689.7 0.333333 0.036766 SCNN1B 6338 __UNKNOWN__ __UNKNOWN__ 16 23391862 23391862 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:23391862C>A ENST00000568923.1 + 12 1590 c.1582C>A c.(1582-1584)Ctg>Atg p.L528M SCNN1B_ENST00000343070.2_Missense_Mutation_p.L555M|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L600M|SCNN1B_ENST00000568085.1_Missense_Mutation_p.L519M P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 555 NA excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706) ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CATCATCAAGCTGGTGGCCTT 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 144 148 146 NA NA NA 16 NA NA 23391862 2197 4300 6497 SO:0001583 missense X87159 CCDS10609.1 16p12.2-p12.1 2012-02-28 2012-02-28 ENSG00000168447 ENSG00000168447 6338 Ion channels / Sodium channel, nonvoltage-gated, Sodium channels 10600 protein-coding gene gene with protein product Liddle syndrome 600760 sodium channel, nonvoltage-gated 1, beta, sodium channel, non-voltage-gated 1, beta NA Standard NM_000336 NA Approved ENaCbeta uc002dln.3 P51168 OTTHUMG00000131608 ENST00000568923.1:c.1582C>A chr16.hg19:g.23391862C>A ENSP00000456309:p.Leu528Met NA C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5 hg19 0.02 1.409015 AAGxTGG COVERED . . . . . . . . . . C 15.76 2.927139 0.52759 . . ENSG00000168447 ENST00000343070;ENST00000307331 T;T 0.79845 -1.31;-1.31 4.85 3.9 0.45041 . . . . . T 0.67692 0.2920 N 0.08118 0 0.33080 D 0.536522 P 0.51351 0.944 P 0.50490 0.642 T 0.71041 -0.4707 9 0.42905 T 0.14 -11.6945 5.3842 0.16208 0.1447:0.6338:0.1403:0.0811 . 555 P51168 SCNNB_HUMAN M 555;600 ENSP00000345751:L555M;ENSP00000302874:L600M ENSP00000302874:L600M L + 1 2 SCNN1B 23299363 0.997000 0.39634 1.000000 0.80357 0.993000 0.82548 0.319000 0.19522 1.034000 0.39945 -0.152000 0.13540 CTG NOVEL SCNN1B-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000434813.1 0 21.970861 KEEP 0 0 0 73 2660 CC 1 0.999804 0 + 57 60 1660 0 0 168.368395 31 60 1057 237 ENST00000568923.1 0.647727 0.999804 GGA2 23062 __UNKNOWN__ __UNKNOWN__ 16 23477000 23477000 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:23477000G>A ENST00000309859.4 - 0 3835 GGA2_ENST00000567468.1_Intron NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802) ADP-ribosylation factor binding (GO:0030306) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) ggtggctcacgcctgtaatcc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF190863 CCDS10611.1 16p12 2010-02-12 2010-02-12 ENSG00000103365 ENSG00000103365 23062 16064 protein-coding gene gene with protein product 606005 NA 10747088, 10749927 Standard NM_015044 NA Approved VEAR, KIAA1080 uc002dlq.3 Q9UJY4 OTTHUMG00000096957 ENST00000309859.4:c.*1911C>T chr16.hg19:g.23477000G>A NA D3DWF0|O14564|Q9NYN2|Q9UPS2 hg19 CCDS10611.1 0.02 1.113903 CACxCCT COVERED NOVEL GGA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214019.1 16 18.961619 KEEP 2 0 0 63 2234 GG 1 0.999962 0 - 7 60 202 0 0 12.870665 83 60 2774 228 ENST00000309859.4 0.077778 0.999962 PRKCB 5579 __UNKNOWN__ __UNKNOWN__ 16 24029499 24029499 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:24029499T>C ENST00000321728.7 + 4 463 PRKCB_ENST00000303531.7_Intron NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta NA NA apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Tamoxifen(DB00675)|Vitamin E(DB00163) ggattacaggtgtgagccact 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M13975 CCDS10618.1, CCDS10619.1 16p12 2009-07-10 2008-08-18 2008-08-18 ENSG00000166501 ENSG00000166501 5579 2.7.11.1 9395 protein-coding gene gene with protein product 176970 protein kinase C, beta 1 PRKCB2, PKCB, PRKCB1 NA 3658678 Standard NM_212535 NM_002738 NA Approved uc002dme.3 P05771 OTTHUMG00000131615 ENST00000321728.7:c.289-13958T>C chr16.hg19:g.24029499T>C NA C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33 hg19 CCDS10618.1 0.02 -0.175232 AGGxGTG UNCOVERED NOVEL PRKCB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254504.2 9 2.406902 KEEP 5 0 0 8 240 TT 0 0 0 + 3 60 88 0 0 6.563181 17 60 477 40 ENST00000321728.7 0.15 0.387407 NSMCE1 197370 __UNKNOWN__ __UNKNOWN__ 16 27278106 27278106 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:27278106C>T ENST00000361439.4 - 1 89 NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) NA NA DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|lung(3) 7 TATATTTTCCCGGATAAACAG 0.269 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161451 CCDS10628.2 16p12.1 2010-03-23 2006-07-05 ENSG00000169189 ENSG00000169189 197370 29897 protein-coding gene gene with protein product NA 11927594 Standard NM_145080 XM_005255163 NA Approved NSE1 uc002doi.1 Q8WV22 OTTHUMG00000131674 ENST00000361439.4:c.10+1920G>A chr16.hg19:g.27278106C>T NA D3DWF6|Q9P045|Q9P049 hg19 CCDS10628.2 0.02 -0.096491 TCCxGGA UNCOVERED NOVEL NSMCE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254577.3 1 2.407691 KEEP 0 0 0 8 272 CC 0.99257 0.119541 0 - 3 60 92 0 0 7.832272 8 60 258 27 ENST00000361439.4 0.272727 0.120436 SULT1A2 6799 __UNKNOWN__ __UNKNOWN__ 16 28603829 28603829 __UNKNOWN__ Intron SNP A A C rs533698473 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:28603829A>C ENST00000533150.1 - 3 1574 SULT1A2_ENST00000335715.4_Intron|SULT1A2_ENST00000395630.1_Intron P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 NA NA 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146) NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 AAAGGGGTCCACTTCTCTAAC 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U34804 CCDS10636.1 16p12.1 2008-02-05 ENSG00000197165 ENSG00000197165 6799 2.8.2.1 Sulfotransferases, cytosolic 11454 protein-coding gene gene with protein product 601292 STP2 NA 8661000, 8912648 Standard NM_001054 NM_001054 NA Approved HAST4 uc002dqh.2 P50226 OTTHUMG00000048082 ENST00000533150.1:c.458-27T>G chr16.hg19:g.28603829A>C NA A9QY25|P78393|Q14CJ7 hg19 0.02 2.032409 TCCxCTT COVERED NOVEL SULT1A2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395195.1 1 4.377134 KEEP 0 2 58 35 1026 AA 1 0.967425 0 - 4 40 139 0 0 9.687644 48 60 1335 121 ENST00000533150.1 0.076923 0.967425 RRN3P2 653390 __UNKNOWN__ __UNKNOWN__ 16 29110458 29110458 __UNKNOWN__ RNA SNP T T C rs561841139 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:29110458T>C ENST00000564580.1 + 0 1131 A6NIE6 RN3P2_HUMAN RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2 NA NA p.W375R(25) NA GAATTTTGAGTGGATAGTGAT 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 25 Substitution - Missense(25) endometrium(19)|kidney(4)|prostate(2) NA NA NA NA NA NA NA NA NA NA NA NA 16p11.2 2011-12-02 ENSG00000103472 ENSG00000103472 653390 37619 pseudogene pseudogene NA Standard NR_003369 NR_003369 NA Approved uc002dsf.4 A6NIE6 ENST00000564580.1: chr16.hg19:g.29110458T>C NA hg19 0.02 1.736544 GAGxGGA COVERED . . . . . . . . . . N 5.632 0.301362 0.10678 . . ENSG00000103472 ENST00000427965 . . . 1.93 1.93 0.25924 . 0.000000 0.64402 N 0.000001 T 0.11239 0.0274 . . . . . . . . . . . . T 0.29701 -1.0003 5 0.02654 T 1 . 2.7527 0.05285 0.2724:0.5536:0.0:0.174 . . . . R 375 . ENSP00000398611:W375R W + 1 0 AC009093.1 29017959 1.000000 0.71417 0.564000 0.28396 0.423000 0.31445 3.439000 0.52878 0.163000 0.19507 -1.160000 0.01791 TGG NOVEL RRN3P2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000433243.1 1 5.312645 KEEP 0 3 95 51 1580 TT 1 0.992094 0 + 7 42 228 0 0 16.757558 53 60 1553 177 ENST00000564580.1 0.116667 0.992094 SPN 6693 __UNKNOWN__ __UNKNOWN__ 16 29681158 29681158 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:29681158T>C ENST00000360121.3 + 0 6201 NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 O75398 DEAF1_HUMAN sialophorin NA NA anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 gatcacgccattgcactccag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J04536 CCDS10650.1 16p11.2 2008-07-31 2008-07-31 ENSG00000197471 ENSG00000197471 6693 CD molecules 11249 protein-coding gene gene with protein product leukosialin 182160 sialophorin (gpL115, leukosialin, CD43) NA 2784859, 2521952 Standard NM_001030288 NA Approved LSN, CD43, GPL115 uc002dtm.4 P16150 OTTHUMG00000097765 ENST00000360121.3:c.*4906T>C chr16.hg19:g.29681158T>C NA A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1 hg19 CCDS10650.1 0.02 1.733597 CCAxTGC COVERED NOVEL SPN-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215001.2 12 4.511256 KEEP 2 0 0 15 450 TT 0.994391 0.961999 0 + 6 60 198 0 0 14.991989 39 60 1082 89 ENST00000360121.3 0.133333 0.967425 QPRT 23475 __UNKNOWN__ __UNKNOWN__ 16 29709286 29709286 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:29709286T>C ENST00000395384.4 + 0 1609 NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase NA NA NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) gcctgggtgatagagcgagac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D78177 CCDS10651.1 16p11.2 2008-07-31 2008-07-31 ENSG00000103485 ENSG00000103485 23475 2.4.2.19 9755 protein-coding gene gene with protein product nicotinate-nucleotide pyrophosphorylase (carboxylating) 606248 NA 9473669 Standard NM_014298 NM_014298 NA Approved QPRTase uc002dto.3 Q15274 OTTHUMG00000097770 ENST00000395384.4:c.*554T>C chr16.hg19:g.29709286T>C NA Q53XW7|Q96G22|Q9BSG6 hg19 CCDS10651.1 0.02 -0.324476 TGAxAGA COVERED NOVEL QPRT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215011.2 9 3.610827 KEEP 1 0 0 12 369 TT 0.993634 0.84656 0 + 4 60 138 1 0 10.417151 29 60 816 75 ENST00000395384.4 0.121212 0.851984 KIF22 3835 __UNKNOWN__ __UNKNOWN__ 16 29813389 29813389 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:29813389A>C ENST00000400751.5 + 9 1701 KIF22_ENST00000569382.2_Intron|KIF22_ENST00000400750.2_Intron|KIF22_ENST00000160827.4_Intron|KIF22_ENST00000561482.1_Intron Q14807 KIF22_HUMAN kinesin family member 22 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777) endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 ggagttcaagaccagcctggg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D38751 CCDS10653.1, CCDS58444.1 16p11.2 2008-03-03 2003-01-09 2003-01-10 ENSG00000079616 ENSG00000079616 3835 Kinesins 6391 protein-coding gene gene with protein product 603213 kinesin-like 4 KNSL4 NA 8599929, 11416179 Standard NM_007317 NA Approved Kid, OBP-1, OBP-2 uc002dts.4 Q14807 OTTHUMG00000097771 ENST00000400751.5:c.1077-701A>C chr16.hg19:g.29813389A>C NA B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46 hg19 CCDS58444.1 0.02 -0.30697 AAGxCCA COVERED NOVEL KIF22-002 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000435528.1 26 3.008981 KEEP 6 0 0 10 314 AG 0.992708 0.812496 0 + 3 30 103 0 0 7.864823 20 60 585 66 ENST00000400751.5 0.130435 0.818465 KIF22 3835 __UNKNOWN__ __UNKNOWN__ 16 29813403 29813403 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:29813403C>G ENST00000400751.5 + 9 1701 KIF22_ENST00000569382.2_Intron|KIF22_ENST00000400750.2_Intron|KIF22_ENST00000160827.4_Intron|KIF22_ENST00000561482.1_Intron Q14807 KIF22_HUMAN kinesin family member 22 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777) endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 gcctgggcaacatagtaagac 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D38751 CCDS10653.1, CCDS58444.1 16p11.2 2008-03-03 2003-01-09 2003-01-10 ENSG00000079616 ENSG00000079616 3835 Kinesins 6391 protein-coding gene gene with protein product 603213 kinesin-like 4 KNSL4 NA 8599929, 11416179 Standard NM_007317 NA Approved Kid, OBP-1, OBP-2 uc002dts.4 Q14807 OTTHUMG00000097771 ENST00000400751.5:c.1077-687C>G chr16.hg19:g.29813403C>G NA B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46 hg19 CCDS58444.1 0.02 -0.333347 CAAxATA COVERED NOVEL KIF22-002 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000435528.1 26 2.6999 KEEP 4 0 0 9 281 CC 0.99254 0.845628 0 + 4 30 126 0 0 9.894396 19 60 635 63 ENST00000400751.5 0.173913 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 30384682 30384682 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:30384682C>T NA NA TBC1D10B (3097 upstream) : MYLPF (1415 downstream) NA NA NA tttgggaggccgaggcaggca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.30384682C>T NA hg19 0.02 -0.184173 GGCxGAG COVERED NOVEL 0 5 2.70832 KEEP 3 0 0 9 303 CC 0.99257 0.420331 0 3 60 90 0 0 6.692907 18 60 582 48 0.142857 0.423478 ZNF785 146540 __UNKNOWN__ __UNKNOWN__ 16 30591243 30591243 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:30591243T>C ENST00000470110.1 - 4 1380 AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA A8K8V0 ZN785_HUMAN zinc finger protein 785 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 gagtctcactttgtcgcccag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC040642 CCDS10685.1 16p11.2 2013-01-08 ENSG00000197162 ENSG00000197162 146540 Zinc fingers, C2H2-type, - 26496 protein-coding gene gene with protein product NA 10493829 Standard NM_152458 NM_152458 NA Approved FLJ32130 uc002dyu.3 A8K8V0 OTTHUMG00000132398 ENST00000470110.1:c.1171-75A>G chr16.hg19:g.30591243T>C NA O75701|Q8IW91|Q8WV14|Q96MN0 hg19 0.02 -0.403468 ACTxTGT COVERED NOVEL ZNF785-003 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000350978.2 4 9.93123 KEEP 0 0 0 33 1094 TT 0.999998 0.93449 0 - 4 60 141 0 0 10.409243 35 60 1053 98 ENST00000470110.1 0.102564 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 30820369 30820369 __UNKNOWN__ IGR SNP C C T rs536530196 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:30820369C>T NA NA ZNF629 (21846 upstream) : BCL7C (24577 downstream) NA NA NA ggctcatgcccgtaatcccag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.30820369C>T NA hg19 0.02 -0.078924 GCCxGTA UNCOVERED NOVEL 0 3 3.009623 KEEP 1 0 0 10 337 CC 0.992708 0.076772 0 3 60 84 1 0 7.342419 6 60 199 32 0.333333 0.077336 CTF1 1489 __UNKNOWN__ __UNKNOWN__ 16 30914046 30914046 __UNKNOWN__ 3'UTR SNP G G A rs543796471 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:30914046G>A ENST00000279804.2 + 0 829 CTF1_ENST00000395019.3_3'UTR NM_001142544.1|NM_001330.3 NP_001136016.1|NP_001321.1 Q16619 CTF1_HUMAN cardiotrophin 1 NA NA cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|leukemia inhibitory factor signaling pathway (GO:0048861)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284) extracellular region (GO:0005576)|extracellular space (GO:0005615) leukemia inhibitory factor receptor binding (GO:0005146) large_intestine(1)|urinary_tract(1) 2 Colorectal(24;0.198) cccaggctggggtgcagtggc 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U43030 CCDS10694.1, CCDS45464.1 16p11.2 2014-09-17 ENSG00000150281 ENSG00000150281 1489 2499 protein-coding gene gene with protein product 600435 NA 8833032 Standard NM_001330 NM_001330 NA Approved CT-1, CT1 uc002dzw.3 Q16619 OTTHUMG00000132413 ENST00000279804.2:c.*186G>A chr16.hg19:g.30914046G>A NA A8MVX4|Q5U5Y7 hg19 CCDS10694.1 0.02 1.216758 TGGxGTG COVERED NOVEL CTF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255550.1 3 13.845091 KEEP 0 0 0 46 1621 GG 1 0.998867 0 + 5 60 142 0 0 8.568234 72 60 2369 159 ENST00000279804.2 0.064935 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 31540189 31540189 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:31540189C>T NA NA AHSP (65 upstream) : CTD-2014E2.2 (17829 downstream) NA NA NA TTCCTTCCGCCCTCCTTCTTA 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.31540189C>T NA hg19 0.02 -0.359597 CGCxCTC COVERED NOVEL 0 1 24.673569 KEEP 0 0 0 82 2803 CC 1 0.888875 0 26 60 782 0 0 78.904753 15 60 488 166 0.634146 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 31973402 31973402 __UNKNOWN__ IGR SNP G G C rs111709425 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:31973402G>C NA NA ZNF267 (44734 upstream) : RP11-1166P10.1 (19788 downstream) NA NA NA TTGCAGGTGTGCAGTGTGAGG 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.31973402G>C NA hg19 0.02 1.824081 TGTxCAG COVERED NOVEL 0 10 13.679073 KEEP 72 1 36 58 2032 GG 0.999999 0.970819 0 4 20 135 0 0 9.25235 49 50 1661 207 0.075472 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32136023 32136023 __UNKNOWN__ IGR SNP C C G rs74721514 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:32136023C>G NA NA RP11-1166P10.6 (39917 upstream) : HERC2P4 (45281 downstream) NA NA NA ttccaccccccacgttcaagc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32136023C>G NA hg19 0.02 -0.377205 CCCxACG COVERED NOVEL 0 19 3.912784 KEEP 13 0 0 13 466 CC 0.993072 0.947879 0 3 42 103 0 0 7.408798 29 50 971 92 0.09375 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32363201 32363201 __UNKNOWN__ IGR SNP C C T rs139007343 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:32363201C>T NA NA RP11-17M15.2 (41325 upstream) : RP11-626K17.3 (102731 downstream) NA NA NA gtggcacgatctcggctcact 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32363201C>T NA hg19 0.02 -0.333345 GATxTCG COVERED NOVEL 0 15 4.514324 KEEP 34 0 0 15 524 CC 0.99254 0.845628 0 5 48 148 0 0 10.954479 30 60 1038 107 0.142857 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32363204 32363204 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:32363204G>A NA NA RP11-17M15.2 (41328 upstream) : RP11-626K17.3 (102728 downstream) NA NA NA gcacgatctcggctcactgca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32363204G>A NA hg19 0.02 -0.306741 CTCxGCT COVERED NOVEL 0 14 4.512942 KEEP 34 0 0 15 494 GG 0.99254 0.812359 0 4 42 102 0 0 6.974578 27 60 868 109 0.129032 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32399067 32399067 __UNKNOWN__ IGR SNP G G A rs62042164 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:32399067G>A NA NA RP11-17M15.2 (77191 upstream) : RP11-626K17.3 (66865 downstream) NA NA NA gcaccaccacgcctggctaat 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32399067G>A NA hg19 0.02 -0.201742 CACxCCT COVERED NOVEL 0 8 3.310353 KEEP 3 0 0 11 377 GG 0.992708 0.486967 0 6 49 190 0 0 16.887119 12 60 382 45 0.333333 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32418023 32418023 __UNKNOWN__ IGR SNP G G A rs72483469 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:32418023G>A NA NA RP11-17M15.2 (96147 upstream) : RP11-626K17.3 (47909 downstream) NA NA NA gtgaaaccccgtctccactaa 0.512 NA G||| 2 0.000399361 0 0 5008 , , NA 19182 0.001 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32418023G>A NA hg19 0.02 -0.184188 CCCxTCT UNCOVERED NOVEL 0 11 3.009225 KEEP 16 0 0 10 336 GG 0 0 0 3 31 92 0 0 6.961212 17 50 548 59 0.15 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32464001 32464001 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:32464001T>C NA NA RP11-17M15.2 (142125 upstream) : RP11-626K17.3 (1931 downstream) NA NA NA ggtcttgaactcctgggctca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32464001T>C NA hg19 0.02 -0.420974 AACxCCT COVERED NOVEL 0 12 3.911853 KEEP 7 0 0 13 412 TT 0.993634 0.942364 0 5 60 176 0 0 13.222115 39 60 1155 97 0.113636 0.948402 SLC6A10P 386757 __UNKNOWN__ __UNKNOWN__ 16 32890997 32890997 __UNKNOWN__ RNA SNP A A G rs689704 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:32890997A>G ENST00000330048.5 - 0 2969 NR_003083.2 solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene NA NA NA GGGTGGTGCCACTGGCTGAGT 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA U41163 16p11.2 2013-07-19 2013-07-19 2013-07-19 ENSG00000214617 ENSG00000214617 386757 Solute carriers 11043 pseudogene pseudogene creatine transporter-2 solute carrier family 6 (neurotransmitter transporter, creatine), member 10 SLC6A10 NA 9154116 Standard NR_003083 NA Approved CT-2 uc002edh.1 OTTHUMG00000132481 ENST00000330048.5: chr16.hg19:g.32890997A>G NA hg19 0.02 1.479312 GCCxCTG COVERED NOVEL SLC6A10P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000432081.2 0 7.051926 KEEP 6 1 27 33 987 AA 0.999998 0.999315 0 - 5 47 143 0 0 8.553434 76 60 2157 146 ENST00000330048.5 0.061728 0.999317 IGHV3OR16-8 388255 __UNKNOWN__ __UNKNOWN__ 16 33020809 33020809 __UNKNOWN__ RNA SNP G G A rs201252363 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33020809G>A ENST00000565407.2 + 0 217 RP11-19N8.2_ENST00000567619.1_RNA immunoglobulin heavy variable 3/OR16-8 (non-functional) NA NA NA CATTAGTGGTGATAGTGGTTA 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 289 234 252 NA NA NA 16 NA NA 33020809 1977 4158 6135 Z29605 16p11.2 2013-05-22 2008-09-11 ENSG00000271130 ENSG00000271130 388255 Immunoglobulins / IGH orphons 5643 other immunoglobulin gene immunoglobulin heavy variable 3/OR16-8 NA Standard NA Approved IGHV3/OR16-8 OTTHUMG00000176449 ENST00000565407.2: chr16.hg19:g.33020809G>A NA hg19 0.02 1.328618 GGTxATA COVERED NOVEL IGHV3OR16-8-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000432095.2 2 7.795025 KEEP 9 2 63 48 1695 GG 1 0.97082 0 + 5 47 137 0 0 8.903084 48 60 1612 149 ENST00000565407.2 0.09434 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33372964 33372964 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33372964T>C NA NA RP11-23E10.4 (6151 upstream) : BMS1P8 (124198 downstream) NA NA NA gtaatcccagtactttgggag 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33372964T>C NA hg19 0.02 -0.420883 CAGxACT COVERED NOVEL 0 14 3.309338 KEEP 0 0 0 11 326 TT 0.993072 0.941832 0 3 60 97 0 1 6.541366 36 60 994 79 0.076923 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33388561 33388561 __UNKNOWN__ IGR SNP C C T rs8063195 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33388561C>T NA NA RP11-23E10.4 (21748 upstream) : BMS1P8 (108601 downstream) NA NA NA cctcccaaagcgctgggatta 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33388561C>T NA hg19 0.02 -0.315728 AAGxGCT UNCOVERED NOVEL 0 22 3.611739 KEEP 34 0 0 12 418 CC 0 0 0 13 49 383 0 0 34.67912 21 50 656 106 0.382353 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33393700 33393700 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33393700A>G NA NA RP11-23E10.4 (26887 upstream) : BMS1P8 (103462 downstream) NA NA NA actccagcctaggcaacagag 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33393700A>G NA hg19 0.02 1.611384 CCTxGGC COVERED NOVEL 0 22 2.21265 KEEP 6 3 108 45 1402 AA 1 0.999962 0 8 53 268 0 0 19.022673 79 60 2244 171 0.091954 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33406241 33406241 __UNKNOWN__ IGR SNP A A G rs357984 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33406241A>G NA NA RP11-23E10.4 (39428 upstream) : BMS1P8 (90921 downstream) NA NA NA TAATATTGTAAAAAGGttttt 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33406241A>G NA hg19 0.02 -0.280611 GTAxAAA COVERED NOVEL 0 11 3.309521 KEEP 5 0 0 11 337 AA 0.99254 0.734154 0 6 60 201 0 0 16.350097 25 60 708 59 0.193548 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33406888 33406888 __UNKNOWN__ IGR SNP G G C rs374464089 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33406888G>C NA NA RP11-23E10.4 (40075 upstream) : BMS1P8 (90274 downstream) NA NA NA acatccatcagggctcttctc 0.577 NA g||| 102 0.0203674 0 0 5008 , , NA 67744 0.1002 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33406888G>C NA hg19 0.02 -0.368435 TCAxGGC COVERED NOVEL 0 5 2.408022 KEEP 0 0 0 8 300 GG 0.99257 0.902315 0 11 60 361 0 0 31.569584 26 60 904 73 0.297297 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33501036 33501036 __UNKNOWN__ IGR SNP G G A rs536194706 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33501036G>A NA NA BMS1P8 (1944 upstream) : IGHV3OR16-12 (104194 downstream) NA NA NA ATGAACAAATGAGCAATTTCT 0.373 NA g||| 2 0.000399361 0.0015 0 5008 , , NA 33423 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33501036G>A NA hg19 0.02 -0.210507 AATxAGC COVERED NOVEL 0 2 2.407754 KEEP 0 0 0 8 271 GG 0.99257 0.518282 0 4 38 114 0 0 8.614491 20 60 634 33 0.166667 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33730779 33730779 __UNKNOWN__ IGR SNP C C A rs62039222 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33730779C>A NA NA RP11-812E19.7 (69448 upstream) : ARHGAP23P1 (8117 downstream) NA NA NA ggcccgggcTCCCGCTGCTCC 0.741 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33730779C>A NA hg19 0.02 3.212024 GCTxCCG COVERED NOVEL 0 2 8.126172 KEEP 19 0 0 27 934 CC 0.999909 0.999909 0 9 48 237 0 0 13.044201 149 50 4855 241 0.056962 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33730784 33730784 __UNKNOWN__ IGR SNP T T C rs62039223 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33730784T>C NA NA RP11-812E19.7 (69453 upstream) : ARHGAP23P1 (8112 downstream) NA NA NA gggcTCCCGCTGCTCCTTGCT 0.741 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33730784T>C NA hg19 0.02 3.570533 CGCxGCT COVERED NOVEL 0 2 6.917485 KEEP 19 0 0 23 692 TT 0.999863 0.999863 0 10 48 343 0 0 23.155199 139 50 4052 225 0.067114 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33784423 33784423 __UNKNOWN__ IGR SNP T T C rs190376515 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33784423T>C NA NA RP11-812E19.3 (6679 upstream) : AC136932.2 (161525 downstream) NA NA NA GGCATGGTGGTGGGGAAGGCA 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33784423T>C NA hg19 0.02 4.725291 TGGxGGG COVERED NOVEL 0 1 3.536001 KEEP 16 1 38 25 678 TT 0.999988 0.999988 0 28 54 736 0 0 52.923815 159 60 4241 378 0.149733 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33934543 33934543 __UNKNOWN__ IGR SNP A A G rs143468787 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33934543A>G NA NA RP11-812E19.3 (156799 upstream) : AC136932.2 (11405 downstream) NA NA NA CCACACTTTAAGATCTGGCTT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33934543A>G NA hg19 0.02 1.719667 TTAxGAT COVERED NOVEL 0 5 7.22096 KEEP 1 0 0 24 776 AA 0.999909 0.999865 0 4 58 138 0 0 9.62211 47 60 1411 161 0.078431 0.999956 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33939904 33939904 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33939904T>C NA NA RP11-812E19.3 (162160 upstream) : AC136932.2 (6044 downstream) NA NA NA GGTCAAAGAATGAAAGACAAT 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33939904T>C NA hg19 0.02 -0.341939 GAAxGAA COVERED NOVEL 0 5 4.811646 KEEP 0 0 0 16 452 TT 0.997832 0.863868 0 5 60 167 0 0 12.724616 32 60 863 58 0.135135 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33939924 33939924 __UNKNOWN__ IGR SNP C C T rs141827650 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33939924C>T NA NA RP11-812E19.3 (162180 upstream) : AC136932.2 (6024 downstream) NA NA NA TATGGAAAAGCCAATCTTCAA 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33939924C>T NA hg19 0.02 1.541836 AAGxCAA COVERED NOVEL 0 7 6.019655 KEEP 0 0 0 20 706 CC 0.999863 0.998064 0 6 60 170 0 0 11.599667 50 60 1619 107 0.107143 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940261 33940261 __UNKNOWN__ IGR SNP C C G rs575959344 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33940261C>G NA NA RP11-812E19.3 (162517 upstream) : AC136932.2 (5687 downstream) NA NA NA ACCCCAATTCCACCATCCCAG 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33940261C>G NA hg19 0.02 3.300263 TTCxACC COVERED NOVEL 0 1 12.574623 KEEP 4 1 29 52 1809 CC 1 0.999999 0 5 60 159 0 0 9.788878 90 60 2990 245 0.052632 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940331 33940331 __UNKNOWN__ IGR SNP C C A rs139809052 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33940331C>A NA NA RP11-812E19.3 (162587 upstream) : AC136932.2 (5617 downstream) NA NA NA CTAAAATATCCTCACTTACTT 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33940331C>A NA hg19 0.02 1.109664 ATCxTCA COVERED NOVEL 0 2 2.477346 KEEP 0 2 62 30 1054 CC 0.999997 0.99899 0 5 60 137 0 0 8.185149 68 60 2243 113 0.068493 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940603 33940603 __UNKNOWN__ IGR SNP C C G rs7350834 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33940603C>G NA NA RP11-812E19.3 (162859 upstream) : AC136932.2 (5345 downstream) NA NA NA ACATTGCACACTTTCTTAACA 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33940603C>G NA hg19 0.02 12.471099 ACAxTTT COVERED NOVEL 0 6 21.735799 KEEP 4 9 329 187 6472 CC 1 1 0 15 60 490 0 0 32.240828 210 60 7068 656 0.066667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940606 33940606 __UNKNOWN__ IGR SNP T T G rs7350810 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33940606T>G NA NA RP11-812E19.3 (162862 upstream) : AC136932.2 (5342 downstream) NA NA NA TTGCACACTTTCTTAACAAGG 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33940606T>G NA hg19 0.02 11.982944 CTTxCTT COVERED NOVEL 0 6 18.895261 KEEP 4 10 350 185 5616 TT 1 1 0 15 60 492 0 0 32.473051 209 60 5902 667 0.066964 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940664 33940664 __UNKNOWN__ IGR SNP G G A rs79869205 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33940664G>A NA NA RP11-812E19.3 (162920 upstream) : AC136932.2 (5284 downstream) NA NA NA ACAAACAATGGCAGTTACTAT 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33940664G>A NA hg19 0.02 11.61333 ATGxCAG COVERED NOVEL 0 7 28.671764 KEEP 0 11 332 212 7639 GG 1 1 0 21 60 628 0 0 40.370383 262 60 8876 913 0.074205 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940790 33940790 __UNKNOWN__ IGR SNP G G A rs144751080 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33940790G>A NA NA RP11-812E19.3 (163046 upstream) : AC136932.2 (5158 downstream) NA NA NA TAAAAAATATGGGAAGAAGTC 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33940790G>A NA hg19 0.02 5.973403 TATxGGA COVERED NOVEL 0 6 14.183452 KEEP 0 4 119 89 3122 GG 1 1 0 17 60 498 0 0 33.843223 155 60 5179 444 0.098837 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940821 33940821 __UNKNOWN__ IGR SNP C C T rs75876309 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33940821C>T NA NA RP11-812E19.3 (163077 upstream) : AC136932.2 (5127 downstream) NA NA NA GGCATAAGTCCCAAAGTTACA 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33940821C>T NA hg19 0.02 7.578444 GTCxCAA COVERED NOVEL 0 8 19.749528 KEEP 1 3 101 101 3489 CC 1 1 0 9 60 278 0 0 16.295494 185 60 6315 579 0.046392 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941044 33941044 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33941044C>T NA NA RP11-812E19.3 (163300 upstream) : AC136932.2 (4904 downstream) NA NA NA AGAAAGTGGCCTCACTCATGC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33941044C>T NA hg19 0.02 9.023818 GGCxTCA COVERED NOVEL 0 13 4.44723 KEEP 6 12 368 144 5146 CC 1 1 0 13 48 395 0 0 24.178743 211 60 7276 724 0.058036 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941046 33941046 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33941046C>T NA NA RP11-812E19.3 (163302 upstream) : AC136932.2 (4902 downstream) NA NA NA AAAGTGGCCTCACTCATGCTC 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33941046C>T NA hg19 0.02 8.044061 CCTxACT COVERED NOVEL 0 13 4.529734 KEEP 6 12 364 143 5063 CC 1 1 0 13 48 365 0 0 21.275691 208 60 7037 719 0.058824 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941086 33941086 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33941086C>T NA NA RP11-812E19.3 (163342 upstream) : AC136932.2 (4862 downstream) NA NA NA TATCAAGAGTCACACATAACA 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33941086C>T NA hg19 0.02 6.3625 AGTxACA COVERED NOVEL 0 12 20.10407 KEEP 8 7 199 137 4789 CC 1 1 0 17 60 483 0 0 30.247089 209 60 7018 582 0.075221 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941141 33941141 __UNKNOWN__ IGR SNP C C A rs138676690 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33941141C>A NA NA RP11-812E19.3 (163397 upstream) : AC136932.2 (4807 downstream) NA NA NA ATACAGTGAACTACAGAAAAA 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33941141C>A NA hg19 0.02 2.392359 GAAxTAC COVERED NOVEL 0 4 5.792846 KEEP 6 5 147 71 2582 CC 1 0.999999 0 10 52 283 0 0 18.412637 103 60 3464 261 0.088496 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941918 33941918 __UNKNOWN__ IGR SNP G G A rs77703973 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33941918G>A NA NA RP11-812E19.3 (164174 upstream) : AC136932.2 (4030 downstream) NA NA NA TGAAGCCAGAGGAGCCACCTC 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33941918G>A NA hg19 0.02 1.359579 AGAxGAG COVERED NOVEL 0 2 2.71511 KEEP 1 1 19 16 503 GG 0.999366 0.996921 0 11 60 328 0 0 25.138634 55 60 1779 110 0.166667 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33942005 33942005 __UNKNOWN__ IGR SNP C C T rs150115870 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33942005C>T NA NA RP11-812E19.3 (164261 upstream) : AC136932.2 (3943 downstream) NA NA NA ATTTTAGAGACAAATAACTTA 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33942005C>T NA hg19 0.02 1.383398 AGAxAAA COVERED NOVEL 0 3 2.577291 KEEP 44 2 61 30 1053 CC 0.999909 0.984072 0 5 27 148 0 0 9.834207 52 60 1733 188 0.087719 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33942073 33942073 __UNKNOWN__ IGR SNP G G A rs200405561 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33942073G>A NA NA RP11-812E19.3 (164329 upstream) : AC136932.2 (3875 downstream) NA NA NA TGTAGCATTTGTTAGGAATTA 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33942073G>A NA hg19 0.02 1.278146 TTTxTTA COVERED NOVEL 0 5 8.161689 KEEP 55 1 31 38 1361 GG 0.999997 0.996721 0 10 45 278 1 0 20.316916 57 60 1936 234 0.149254 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33946162 33946162 __UNKNOWN__ IGR SNP C C T rs76362163 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33946162C>T NA NA AC136932.2 (141 upstream) : LINC00273 (14889 downstream) NA NA NA gaattagggccttaagacgag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33946162C>T NA hg19 0.02 -0.228076 GGCxTTA COVERED NOVEL 0 3 2.708891 KEEP 0 0 0 9 326 CC 0.99254 0.578582 0 7 60 209 0 0 24.236671 0 0 0 50 1 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33946174 33946174 __UNKNOWN__ IGR SNP T T A rs75021454 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33946174T>A NA NA AC136932.2 (153 upstream) : LINC00273 (14877 downstream) NA NA NA taagacgagattaaattgctg 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33946174T>A NA hg19 0.02 -0.271878 AGAxTAA COVERED NOVEL 0 5 3.609594 KEEP 0 0 0 12 365 TT 0.993634 0.712749 0 8 60 243 0 0 25.942128 2 60 59 67 0.8 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33946398 33946398 __UNKNOWN__ IGR SNP G G A rs143417285 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33946398G>A NA NA AC136932.2 (377 upstream) : LINC00273 (14653 downstream) NA NA NA ttctactgtggataaaatgct 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33946398G>A NA hg19 0.02 3.052432 GTGxATA COVERED NOVEL 0 5 7.960253 KEEP 2 1 30 37 1289 GG 1 0.999987 0 11 60 309 1 0 21.704982 78 60 2555 206 0.123596 0.999987 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33946432 33946432 __UNKNOWN__ IGR SNP G G A rs201531637 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33946432G>A NA NA AC136932.2 (411 upstream) : LINC00273 (14619 downstream) NA NA NA acatgctacagggaaatgttt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33946432G>A NA hg19 0.02 1.409769 ACAxGGA COVERED NOVEL 0 3 8.427103 KEEP 1 0 0 28 956 GG 0.999997 0.976862 0 12 60 339 0 0 29.012656 28 60 900 90 0.3 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33947893 33947893 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33947893C>T NA NA AC136932.2 (1872 upstream) : LINC00273 (13158 downstream) NA NA NA ttcgctctgtcacccaggcca 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33947893C>T NA hg19 0.02 1.357105 TGTxACC COVERED NOVEL 0 22 4.815708 KEEP 9 0 0 16 567 CC 0.997832 0.987397 0 4 49 116 1 0 8.334406 27 60 905 124 0.129032 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33947922 33947922 __UNKNOWN__ IGR SNP A A T rs111854203 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33947922A>T NA NA AC136932.2 (1901 upstream) : LINC00273 (13129 downstream) NA NA NA tggcatgatcatagctcactg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33947922A>T NA hg19 0.02 1.67214 ATCxTAG COVERED NOVEL 0 26 4.212343 KEEP 9 0 0 14 432 AA 0.993634 0.983243 0 8 60 245 0 0 19.826172 30 60 865 108 0.210526 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33950316 33950316 __UNKNOWN__ IGR SNP C C G rs112095231 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33950316C>G NA NA AC136932.2 (4295 upstream) : LINC00273 (10735 downstream) NA NA NA cccatcagaacctcttttctt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33950316C>G NA hg19 0.02 3.815564 GAAxCTC COVERED NOVEL 0 6 13.241735 KEEP 7 0 0 44 1498 CC 1 0.999999 0 3 60 105 0 0 10.471017 2 40 57 205 0.6 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33951685 33951685 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33951685A>T NA NA AC136932.2 (5664 upstream) : LINC00273 (9366 downstream) NA NA NA cccgggttcaagctattgtcc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33951685A>T NA hg19 0.02 -0.429755 TCAxGCT COVERED NOVEL 0 11 4.211772 KEEP 1 0 0 14 439 AA 0.995343 0.950046 0 5 60 145 0 0 13.345286 7 60 210 83 0.416667 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33953771 33953771 __UNKNOWN__ IGR SNP A A T rs146372903 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33953771A>T NA NA AC136932.2 (7750 upstream) : LINC00273 (7280 downstream) NA NA NA ctgaaaatacaaaactgagtc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33953771A>T NA hg19 0.02 2.350493 TACxAAA COVERED NOVEL 0 141 12.337788 KEEP 114 0 0 41 1287 AG 0.999988 0.999988 0 4 60 116 0 0 11.43132 3 60 89 397 0.571429 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33957574 33957574 __UNKNOWN__ IGR SNP C C A rs76193842 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33957574C>A NA NA AC136932.2 (11553 upstream) : LINC00273 (3477 downstream) NA NA NA TCAAAGCACACCTCGGCCACC 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33957574C>A NA hg19 0.02 6.449852 ACAxCTC COVERED NOVEL 0 99 12.375418 KEEP 36 1 34 53 1846 CC 1 1 0 9 60 243 0 0 20.199828 24 60 757 440 0.272727 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33958458 33958458 __UNKNOWN__ IGR SNP G G T rs368342783 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:33958458G>T NA NA AC136932.2 (12437 upstream) : LINC00273 (2593 downstream) NA NA NA gtgtgtgtgtgtctgccttct 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33958458G>T NA hg19 0.02 2.669899 TGTxTCT COVERED NOVEL 0 204 11.737777 KEEP 94 0 0 39 1366 GG 0.999879 0.999879 0 4 48 122 0 0 9.765927 16 60 531 316 0.2 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 34175702 34175702 __UNKNOWN__ IGR SNP C C G rs370132607 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:34175702C>G NA NA RNA5-8SP2 (210125 upstream) : CTD-2144E22.8 (37412 downstream) NA NA NA tcttaaaagtcagtgatgttg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.34175702C>G NA hg19 0.02 -0.087725 AGTxAGT UNCOVERED NOVEL 0 5 2.708886 KEEP 7 0 0 9 322 CC 0.99257 0.09898 0 3 60 99 1 0 9.869747 2 49 62 30 0.6 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391413 46391413 __UNKNOWN__ IGR SNP T T C rs2624580 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:46391413T>C NA NA None (None upstream) : ANKRD26P1 (111839 downstream) NA NA NA aattccattctatgatgattc 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391413T>C NA hg19 0.02 -0.342018 TTCxATG COVERED NOVEL 0 27 12.975508 KEEP 44 1 37 56 1766 TT 1 0.899314 0 5 46 161 2 0 12.124536 32 48 922 171 0.135135 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391941 46391941 __UNKNOWN__ IGR SNP G G A rs71226079|rs4249500 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:46391941G>A NA NA None (None upstream) : ANKRD26P1 (111311 downstream) NA NA NA attcaattccgttcattgaca 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391941G>A NA hg19 0.02 1.526295 TCCxTTC COVERED NOVEL 0 14 7.158152 KEEP 4 1 32 35 1214 GG 0.999998 0.970819 0 5 60 143 0 0 9.826385 41 60 1316 139 0.108696 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46403734 46403734 __UNKNOWN__ IGR SNP T T G rs150682234 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:46403734T>G NA NA None (None upstream) : ANKRD26P1 (99518 downstream) NA NA NA gattccattctattccattcg 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46403734T>G NA hg19 0.02 1.797922 TTCxATT COVERED NOVEL 0 21 6.354888 KEEP 8 4 125 65 2017 TT 1 0.984161 0 5 60 163 0 0 11.630179 45 60 1293 195 0.1 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46405110 46405110 __UNKNOWN__ IGR SNP C C T rs56961712|rs4380209 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:46405110C>T NA NA None (None upstream) : ANKRD26P1 (98142 downstream) NA NA NA tgattccattcgattccattc 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46405110C>T NA hg19 0.02 -0.289437 ATTxGAT COVERED NOVEL 0 18 3.578983 KEEP 24 2 54 31 1052 CC 0.999931 0.760834 0 4 25 109 0 0 7.637329 27 60 843 119 0.129032 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46420361 46420361 __UNKNOWN__ IGR SNP T T C rs28753150 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:46420361T>C NA NA None (None upstream) : ANKRD26P1 (82891 downstream) NA NA NA aatgggataatcattgaatgg 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46420361T>C NA hg19 0.02 -0.192963 TAAxCAT COVERED NOVEL 0 9 6.921681 KEEP 9 0 0 23 749 TT 0.999863 0.457694 0 3 27 102 0 0 8.033202 16 50 487 71 0.157895 0.457757 DNAJA2 10294 __UNKNOWN__ __UNKNOWN__ 16 47001843 47001843 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:47001843A>C ENST00000317089.5 - 4 659 NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 NA NA positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) gatccacccgactcggcctcc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF116720 CCDS10726.1 16q12.1 2011-09-02 ENSG00000069345 ENSG00000069345 10294 Heat shock proteins / DNAJ (HSP40) 14884 protein-coding gene gene with protein product 611322 NA 9710638, 11147971 Standard NM_005880 NA Approved HIRIP4, DNAJ, CPR3, DNJ3 uc002eeo.2 O60884 OTTHUMG00000133104 ENST00000317089.5:c.443+152T>G chr16.hg19:g.47001843A>C NA B2R7L7|O14711 hg19 CCDS10726.1 0.02 -0.306393 CCGxCTC COVERED NOVEL DNAJA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256769.2 3 3.044941 KEEP 0 1 37 23 727 AA 0.999909 0.800173 0 - 4 60 99 0 0 6.607067 29 60 844 76 ENST00000317089.5 0.121212 0.800245 DNAJA2 10294 __UNKNOWN__ __UNKNOWN__ 16 47001885 47001885 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:47001885G>A ENST00000317089.5 - 4 659 NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 NA NA positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) gtgagccaccgcacccagccg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF116720 CCDS10726.1 16q12.1 2011-09-02 ENSG00000069345 ENSG00000069345 10294 Heat shock proteins / DNAJ (HSP40) 14884 protein-coding gene gene with protein product 611322 NA 9710638, 11147971 Standard NM_005880 NA Approved HIRIP4, DNAJ, CPR3, DNJ3 uc002eeo.2 O60884 OTTHUMG00000133104 ENST00000317089.5:c.443+110C>T chr16.hg19:g.47001885G>A NA B2R7L7|O14711 hg19 CCDS10726.1 0.02 1.304616 ACCxCAC COVERED NOVEL DNAJA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256769.2 3 12.03598 KEEP 1 0 0 40 1286 GG 1 0.995083 0 - 5 60 133 0 0 8.110326 59 60 1870 135 ENST00000317089.5 0.078125 0.995084 ABCC12 94160 __UNKNOWN__ __UNKNOWN__ 16 48124848 48124848 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:48124848T>C ENST00000311303.3 - 23 3631 ABCC12_ENST00000416054.1_Intron|ABCC12_ENST00000448542.1_Intron NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NA NA integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) tctcaaactcttgacctcagg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY040220 CCDS10730.1 16q12.1 2012-03-14 ENSG00000140798 ENSG00000140798 94160 ATP binding cassette transporters / subfamily C 14640 protein-coding gene gene with protein product 607041 NA 11435397, 11483364 Standard NM_033226 NM_033226 NA Approved MRP9 uc002efc.1 Q96J65 OTTHUMG00000133143 ENST00000311303.3:c.3285+182A>G chr16.hg19:g.48124848T>C NA Q49AL2|Q8TAF0|Q8TEY2 hg19 CCDS10730.1 0.02 -0.263078 CTCxTGA COVERED NOVEL ABCC12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256837.1 7 4.212408 KEEP 3 0 0 14 437 TT 0.995343 0.690438 0 - 3 60 94 0 0 6.646398 26 60 747 57 ENST00000311303.3 0.103448 0.693668 LONP2 83752 __UNKNOWN__ __UNKNOWN__ 16 48374625 48374625 __UNKNOWN__ Intron SNP G G A rs143692723 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:48374625G>A ENST00000285737.4 + 12 2031 LONP2_ENST00000535754.1_Intron NM_031490.2 NP_113678.2 lon peptidase 2, peroxisomal NA NA breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 aaatcccagcgctttgggagg 0.458 NA A||| 35 0.00698882 0.025 0.0029 5008 , , NA 17001 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ548761 CCDS10734.1, CCDS73880.1 16q12.1 2010-04-21 ENSG00000102910 ENSG00000102910 83752 ATPases / AAA-type 20598 protein-coding gene gene with protein product NA 14561759 Standard NM_031490 XM_005256191 NA Approved MGC4840, LONP, LONPL uc002efi.1 Q86WA8 OTTHUMG00000133144 ENST00000285737.4:c.1938+6356G>A chr16.hg19:g.48374625G>A NA hg19 CCDS10734.1 0.02 -0.166661 AGCxCTT COVERED NOVEL LONP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256839.2 2 2.407273 KEEP 0 0 0 8 260 GG 0.99257 0.351317 0 + 3 60 95 1 0 7.772769 11 60 358 40 ENST00000285737.4 0.214286 0.353947 LONP2 83752 __UNKNOWN__ __UNKNOWN__ 16 48386304 48386304 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:48386304T>C ENST00000285737.4 + 0 3243 LONP2_ENST00000564259.1_Intron NM_031490.2 NP_113678.2 lon peptidase 2, peroxisomal NA NA breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 cacctgtaattccagcacttt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ548761 CCDS10734.1, CCDS73880.1 16q12.1 2010-04-21 ENSG00000102910 ENSG00000102910 83752 ATPases / AAA-type 20598 protein-coding gene gene with protein product NA 14561759 Standard NM_031490 XM_005256191 NA Approved MGC4840, LONP, LONPL uc002efi.1 Q86WA8 OTTHUMG00000133144 ENST00000285737.4:c.*591T>C chr16.hg19:g.48386304T>C NA hg19 CCDS10734.1 0.02 3.470638 AATxCCA COVERED NOVEL LONP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256839.2 15 4.113297 KEEP 0 3 95 47 1435 TT 1 1 0 + 10 60 323 0 0 21.44389 130 60 3713 290 ENST00000285737.4 0.071429 1 LONP2 83752 __UNKNOWN__ __UNKNOWN__ 16 48386522 48386522 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:48386522C>G ENST00000285737.4 + 0 3461 LONP2_ENST00000564259.1_Intron NM_031490.2 NP_113678.2 lon peptidase 2, peroxisomal NA NA breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 tccagcctggctgacagagcg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ548761 CCDS10734.1, CCDS73880.1 16q12.1 2010-04-21 ENSG00000102910 ENSG00000102910 83752 ATPases / AAA-type 20598 protein-coding gene gene with protein product NA 14561759 Standard NM_031490 XM_005256191 NA Approved MGC4840, LONP, LONPL uc002efi.1 Q86WA8 OTTHUMG00000133144 ENST00000285737.4:c.*809C>G chr16.hg19:g.48386522C>G NA hg19 CCDS10734.1 0.02 1.587498 TGGxTGA COVERED NOVEL LONP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256839.2 10 5.287219 KEEP 1 2 61 39 1419 CC 1 0.999407 0 + 7 60 209 1 0 14.369077 63 60 2103 163 ENST00000285737.4 0.1 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 48652586 48652586 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:48652586T>C NA NA N4BP1 (8466 upstream) : CTC-527H23.2 (1643 downstream) NA NA NA cctcatgatctgcccgcctcg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.48652586T>C NA hg19 0.02 -0.297893 ATCxGCC COVERED NOVEL 0 8 2.406533 KEEP 0 0 0 8 242 TT 0.99257 0.775257 0 3 60 99 0 0 7.05466 28 60 770 59 0.096774 0.78106 CNEP1R1 255919 __UNKNOWN__ __UNKNOWN__ 16 50063709 50063709 __UNKNOWN__ Splice_Site SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:50063709G>T ENST00000458059.3 + 4 1128 c.222G>T c.(220-222)aaG>aaT p.K74N CNEP1R1_ENST00000427478.2_Splice_Site_p.K57N|CNEP1R1_ENST00000562576.1_Splice_Site_p.K57N|CNEP1R1_ENST00000565556.1_Splice_Site_p.K25N NM_153261.4 NP_694993.2 Q8N9A8 NEPR1_HUMAN CTD nuclear envelope phosphatase 1 regulatory subunit 1 57 NA lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965) NA AGACACAAAAGGTAGAAGTTT 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 144 129 133 NA NA NA 16 NA NA 50063709 1833 4079 5912 SO:0001630 splice_region_variant AK095420 CCDS45480.1, CCDS61931.1 16q12.1 2012-02-01 2012-02-01 2012-02-01 ENSG00000205423 ENSG00000205423 255919 26759 protein-coding gene gene with protein product nuclear envelope phosphatase 1-regulatory subunit 1 chromosome 16 open reading frame 69, transmembrane protein 188 C16orf69, TMEM188 NA 22134922 Standard NM_153261 NM_153261 NA Approved FLJ38101, NEP1-R1 uc002eft.3 Q8N9A8 ENST00000458059.3:c.222+1G>T chr16.hg19:g.50063709G>T NA Q4G1A9|Q5H9V0|Q8NE06 hg19 CCDS45480.1 0.02 -0.412289 AAAxGTA COVERED . . . . . . . . . . G 13.86 2.363904 0.41902 . . ENSG00000205423 ENST00000458059;ENST00000427478 . . . 5.75 5.75 0.90469 . . . . . T 0.42988 0.1227 N 0.14661 0.345 0.80722 D 1 B;B 0.21225 0.023;0.053 B;B 0.15484 0.009;0.013 T 0.26677 -1.0096 8 0.16896 T 0.51 -11.2731 20.3046 0.98621 0.0:0.0:1.0:0.0 . 57;74 Q8N9A8;Q8N9A8-2 TM188_HUMAN;. N 74;57 . ENSP00000394224:K57N K + 3 2 TMEM188 48621210 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 5.534000 0.67167 2.878000 0.98634 0.650000 0.86243 AAG NOVEL CNEP1R1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000423129.1 0 8.125751 KEEP 0 0 0 27 932 GG 0.999988 0.94173 0 Missense_Mutation + 16 60 497 0 0 44.24249 31 60 1057 103 ENST00000458059.3 0.340426 0.941741 CNEP1R1 255919 __UNKNOWN__ __UNKNOWN__ 16 50063710 50063710 __UNKNOWN__ Splice_Site SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:50063710G>T ENST00000458059.3 + 4 1128 c.e4+1 CNEP1R1_ENST00000427478.2_Splice_Site|CNEP1R1_ENST00000562576.1_Splice_Site|CNEP1R1_ENST00000565556.1_Splice_Site NM_153261.4 NP_694993.2 Q8N9A8 NEPR1_HUMAN CTD nuclear envelope phosphatase 1 regulatory subunit 1 NA NA lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965) NA GACACAAAAGGTAGAAGTTTT 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 143 128 132 NA NA NA 16 NA NA 50063710 1834 4078 5912 SO:0001630 splice_region_variant AK095420 CCDS45480.1, CCDS61931.1 16q12.1 2012-02-01 2012-02-01 2012-02-01 ENSG00000205423 ENSG00000205423 255919 26759 protein-coding gene gene with protein product nuclear envelope phosphatase 1-regulatory subunit 1 chromosome 16 open reading frame 69, transmembrane protein 188 C16orf69, TMEM188 NA 22134922 Standard NM_153261 NM_153261 NA Approved FLJ38101, NEP1-R1 uc002eft.3 Q8N9A8 ENST00000458059.3:c.222+1G>T chr16.hg19:g.50063710G>T NA Q4G1A9|Q5H9V0|Q8NE06 hg19 CCDS45480.1 0.02 -0.394729 AAGxTAG COVERED . . . . . . . . . . G 25.1 4.601340 0.87055 . . ENSG00000205423 ENST00000458059;ENST00000427478 . . . 5.75 5.75 0.90469 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 20.3046 0.98621 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . TMEM188 48621211 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 8.619000 0.90938 2.878000 0.98634 0.650000 0.86243 . NOVEL CNEP1R1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000423129.1 0 7.825486 KEEP 0 0 0 26 916 GG 0.999957 0.9266 0 Intron + 15 60 453 0 0 40.015704 30 60 1012 98 ENST00000458059.3 0.333333 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 54474187 54474187 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:54474187T>C NA NA RP11-434E6.2 (69610 upstream) : AC079412.1 (109027 downstream) NA NA NA cttcctcctcttcctcctctt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.54474187T>C NA hg19 0.02 -0.298181 CTCxTCC COVERED NOVEL 0 22 2.708087 KEEP 21 0 0 9 284 TT 0.99257 0.775257 0 4 41 141 0 0 11.162125 22 60 637 85 0.153846 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 54474196 54474196 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:54474196T>C NA NA RP11-434E6.2 (69619 upstream) : AC079412.1 (109018 downstream) NA NA NA cttcctcctcttcctcctctt 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.54474196T>C NA hg19 0.02 -0.333228 CTCxTCC COVERED NOVEL 0 17 3.009319 KEEP 12 0 0 10 319 TT 0.99254 0.845628 0 3 41 99 0 0 7.144614 26 60 749 76 0.103448 0.851984 CES1 1066 __UNKNOWN__ __UNKNOWN__ 16 55866900 55866900 __UNKNOWN__ Intron SNP T T C rs12149359 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:55866900T>C ENST00000360526.3 - 1 155 CES1_ENST00000361503.4_Intron|CES1_ENST00000422046.2_Intron NM_001025194.1|NM_001025195.1|NM_001266.4 NP_001020365.1|NP_001020366.1|NP_001257.4 P23141 EST1_HUMAN carboxylesterase 1 NA NA epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636) endoplasmic reticulum (GO:0005783) carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374) NA all cancers(182;0.13)|Epithelial(162;0.137) Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519) CGCATTTTGATTTCAGAAGGA 0.597 NA .||| 610 0.121805 0.0847 0.0994 5008 , , NA 15173 0.1558 NA 0.1252 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NSCLC(162;1801 2756 42904 52896) NA 0 56 43 47 NA NA NA 16 NA NA 55866900 2159 4192 6351 SO:0001627 intron_variant BC012418 CCDS32450.1, CCDS45488.1, CCDS45489.1 16q22.2 2010-10-12 2010-10-12 ENSG00000198848 ENSG00000198848 1066 3.1.1.1 Carboxylesterases 1863 protein-coding gene gene with protein product human monocyte/macrophage serine esterase 1 114835 carboxylesterase 1 (monocyte/macrophage serine esterase 1) NA 2070086, 20931200 Standard NM_001266 XM_005255774 NA Approved HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2 uc002eil.3 P23141 ENST00000360526.3:c.52+15A>G chr16.hg19:g.55866900T>C NA A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2 hg19 CCDS32450.1 0.02 1.809884 TGAxTTC COVERED NOVEL CES1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000433282.2 0 4.819314 KEEP 0 3 109 54 1675 TT 1 0.994422 0 - 5 57 174 0 0 12.099375 61 60 1711 163 ENST00000360526.3 0.075758 0.994422 OGFOD1 55239 __UNKNOWN__ __UNKNOWN__ 16 56491855 56491855 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:56491855T>G ENST00000566157.1 + 3 423 OGFOD1_ENST00000568397.1_Intron NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 NA NA cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) ctcccaaagttctgggattac 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC032919 CCDS10761.2 16q12.2 2010-11-23 ENSG00000087263 ENSG00000087263 55239 25585 protein-coding gene gene with protein product TPA1, termination and polyadenylation 1, homolog (S. cerevisiae) 615857 NA 10997877 Standard NM_018233 NM_018233 NA Approved KIAA1612, FLJ10826, TPA1 uc002ejb.3 Q8N543 OTTHUMG00000133237 ENST00000566157.1:c.301-605T>G chr16.hg19:g.56491855T>G NA H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6 hg19 CCDS10761.2 0.02 -0.166565 AGTxCTG COVERED NOVEL OGFOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256976.3 8 2.705556 KEEP 0 0 0 9 250 TT 0.99254 0.384517 0 + 3 60 109 0 0 8.73383 16 60 438 40 ENST00000566157.1 0.157895 0.387407 MT1H 4496 __UNKNOWN__ __UNKNOWN__ 16 56704385 56704385 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:56704385T>C ENST00000332374.4 + 2 99 MT1H_ENST00000569155.1_Intron NM_005951.2 NP_005942.1 P80294 MT1H_HUMAN metallothionein 1H NA NA cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) zinc ion binding (GO:0008270) lung(5) 5 TGCATCTCACTCACAACACAC 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 86 77 80 NA NA NA 16 NA NA 56704385 2198 4300 6498 SO:0001627 intron_variant BC008408 CCDS10767.1 16q13 2008-02-05 ENSG00000205358 ENSG00000205358 4496 Metallothioneins 7400 protein-coding gene gene with protein product 156354 MT1 NA 2286373, 8049263 Standard NM_005951 NM_005951 NA Approved uc002ejw.3 P80294 OTTHUMG00000133283 ENST00000332374.4:c.29-33T>C chr16.hg19:g.56704385T>C NA B2RUY6 hg19 CCDS10767.1 0.02 1.926985 CACxCAC COVERED NOVEL MT1H-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257063.1 0 5.717929 KEEP 0 0 0 19 617 TT 0.99986 0.992786 0 + 15 60 493 0 0 41.326076 49 60 1450 107 ENST00000332374.4 0.234375 0.992926 NUP93 9688 __UNKNOWN__ __UNKNOWN__ 16 56876676 56876676 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:56876676A>G ENST00000308159.5 + 21 2470 NUP93_ENST00000569842.1_Intron|NUP93_ENST00000564887.1_Intron|NUP93_ENST00000542526.1_Intron NM_014669.4 NP_055484.3 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 tgttgcccagactggtctcga 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(33;610 796 1305 1705 38917) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D42085 CCDS10769.1, CCDS55996.1 16q13 2008-02-05 ENSG00000102900 ENSG00000102900 9688 28958 protein-coding gene gene with protein product 614351 NA 9348540, 9531546 Standard NM_014669 NM_014669 NA Approved KIAA0095 uc002eka.3 Q8N1F7 OTTHUMG00000133278 ENST00000308159.5:c.2349+931A>G chr16.hg19:g.56876676A>G NA B3KPQ8|Q14705 hg19 CCDS10769.1 0.02 1.854127 CAGxCTG COVERED NOVEL NUP93-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257058.4 14 3.910849 KEEP 0 0 0 13 386 AA 0.994391 0.985406 0 + 5 60 153 0 0 10.358545 52 60 1490 98 ENST00000308159.5 0.087719 0.990964 SLC12A3 6559 __UNKNOWN__ __UNKNOWN__ 16 56947949 56947949 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:56947949A>G ENST00000438926.2 + 0 3754 SLC12A3_ENST00000563236.1_3'UTR|SLC12A3_ENST00000262502.5_3'UTR NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215) breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) agcctcccgaatagctgggat 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10770.1, CCDS45491.1, CCDS58464.1 16q13 2013-07-18 2013-07-18 ENSG00000070915 ENSG00000070915 6559 Solute carriers 10912 protein-coding gene gene with protein product 600968 NA 8812482 Standard NM_000339 NA Approved NCCT uc002ekd.4 P55017 OTTHUMG00000133284 ENST00000438926.2:c.*632A>G chr16.hg19:g.56947949A>G NA A8MSJ2|C9JNN9 hg19 CCDS10770.1 0.02 -0.429726 CGAxTAG COVERED NOVEL SLC12A3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257064.2 7 5.115547 KEEP 0 0 0 17 541 AA 0.999366 0.953887 0 + 6 60 190 0 0 14.255966 38 60 1093 89 ENST00000438926.2 0.136364 0.954491 CCDC102A 92922 __UNKNOWN__ __UNKNOWN__ 16 57554827 57554827 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:57554827A>G ENST00000258214.2 - 4 1168 NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A NA NA endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 actccagcctaggtgacagag 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008285 CCDS10784.1 16q13 2008-02-05 ENSG00000135736 ENSG00000135736 92922 28097 protein-coding gene gene with protein product NA 12477932 Standard NM_033212 NM_033212 NA Approved MGC10992 uc002elw.3 Q96A19 OTTHUMG00000133472 ENST00000258214.2:c.921+152T>C chr16.hg19:g.57554827A>G NA Q9BT74 hg19 CCDS10784.1 0.02 -0.166591 CCTxGGT COVERED NOVEL CCDC102A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257348.1 7 3.305908 KEEP 2 0 0 11 317 AA 0.992708 0.351366 0 - 3 60 103 0 0 8.472865 12 60 329 35 ENST00000258214.2 0.2 0.353947 TEPP 374739 __UNKNOWN__ __UNKNOWN__ 16 58018096 58018096 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:58018096T>C ENST00000290871.5 + 3 425 TEPP_ENST00000569996.1_Intron|TEPP_ENST00000441824.2_Intron NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed NA NA extracellular region (GO:0005576) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 gtgtgagccatcgtgcccggc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC104458 CCDS10790.1, CCDS45496.1 16q13 2009-04-20 ENSG00000159648 ENSG00000159648 374739 33745 protein-coding gene gene with protein product 610264 NA 14652002 Standard NM_199456 NM_199456 NA Approved uc002emv.4 Q6URK8 OTTHUMG00000133463 ENST00000290871.5:c.389-111T>C chr16.hg19:g.58018096T>C NA Q6URK7 hg19 CCDS10790.1 0.02 1.529251 CCAxCGT COVERED NOVEL TEPP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257339.2 9 7.655931 KEEP 0 1 36 38 1150 TT 1 0.999948 0 + 4 60 136 0 0 8.387693 87 60 2475 185 ENST00000290871.5 0.043956 0.999948 CCDC113 29070 __UNKNOWN__ __UNKNOWN__ 16 58315789 58315789 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:58315789A>C ENST00000219299.4 + 0 3321 PRSS54_ENST00000543437.1_Intron|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000219301.4_Intron|PRSS54_ENST00000567164.1_Intron NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234) large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 ctctgtccccaaggctggagt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136785 CCDS10795.1, CCDS45497.1 16q21 2008-02-05 ENSG00000103021 ENSG00000103021 29070 25002 protein-coding gene gene with protein product NA 11230166, 11042152 Standard NM_014157 NM_014157 NA Approved HSPC065, DKFZp434N1418 uc002ene.3 Q9H0I3 OTTHUMG00000133489 ENST00000219299.4:c.*2108A>C chr16.hg19:g.58315789A>C NA B2RAQ7|B4DR20|Q9NZX2 hg19 CCDS10795.1 0.02 1.555482 CCCxAGG COVERED NOVEL CCDC113-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257387.2 8 6.016706 KEEP 0 0 0 20 596 AA 0.999863 0.999811 0 + 5 60 175 2 0 11.71158 77 60 2205 154 ENST00000219299.4 0.060976 0.999948 SLC38A7 55238 __UNKNOWN__ __UNKNOWN__ 16 58703851 58703851 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:58703851G>C ENST00000564100.1 - 8 1751 SLC38A7_ENST00000219320.4_Intron|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000570101.1_Intron|SLC38A7_ENST00000564010.1_Intron Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 NA NA sodium ion transport (GO:0006814) axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194) endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 tgcactccaggctgggcgaca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC001961 CCDS10800.1 16q21 2013-05-22 ENSG00000103042 ENSG00000103042 55238 Solute carriers 25582 protein-coding gene gene with protein product 614236 NA Standard NM_018231 XM_006721229 NA Approved FLJ10815 uc002eod.1 Q9NVC3 OTTHUMG00000133491 ENST00000564100.1:c.884-2460C>G chr16.hg19:g.58703851G>C NA Q53GJ9|Q9H9I5 hg19 0.02 1.69251 CAGxCTG COVERED NOVEL SLC38A7-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000422205.1 9 3.747418 KEEP 0 1 33 24 839 GG 0.999931 0.996164 0 - 4 60 130 0 0 8.654467 52 70 1722 124 ENST00000564100.1 0.071429 0.996233 NAE1 8883 __UNKNOWN__ __UNKNOWN__ 16 66854661 66854661 __UNKNOWN__ Intron SNP G G A rs12600037 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:66854661G>A ENST00000290810.3 - 7 609 NAE1_ENST00000359087.4_Intron|NAE1_ENST00000564040.2_Intron|NAE1_ENST00000379463.2_Intron|NAE1_ENST00000394074.2_Intron Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 NA NA mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) aaaattagccgggcacggtgg 0.577 NA G||| 1943 0.387979 0.0764 0.464 5008 , , NA 14871 0.6161 NA 0.4732 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U50939 CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1 16q22 2013-09-26 2007-12-11 2007-12-11 ENSG00000159593 ENSG00000159593 8883 Ubiquitin-like modifier activating enzymes 621 protein-coding gene gene with protein product 603385 amyloid beta precursor protein binding protein 1, 59kDa APPBP1 NA 8626687, 12740388 Standard NM_003905 XM_005256215 NA Approved ula-1 uc002eqf.3 Q13564 OTTHUMG00000137513 ENST00000290810.3:c.511+691C>T chr16.hg19:g.66854661G>A NA A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9 hg19 CCDS10820.1 0.02 -0.166651 GCCxGGC UNCOVERED NOVEL NAE1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000268832.1 15 2.407802 KEEP 17 0 0 8 282 GG 0 0 0 - 6 54 172 0 0 15.268278 11 60 365 55 ENST00000290810.3 0.352941 0.353947 CBFB 865 __UNKNOWN__ __UNKNOWN__ 16 67115991 67115991 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:67115991A>G ENST00000412916.2 + 5 562 CBFB_ENST00000290858.6_Intron|CBFB_ENST00000561924.2_Intron Q13951 PEBB_HUMAN core-binding factor, beta subunit NA NA cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) breast(3)|large_intestine(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066) caaagtgctgagattacaggc 0.423 NA T MYH11 AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 16 16q22 865 core-binding factor, beta subunit L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC018509 CCDS10827.1, CCDS45508.1 16q22.1 2008-02-05 ENSG00000067955 ENSG00000067955 865 1539 protein-coding gene gene with protein product 121360 NA 8351518, 7587111 Standard NM_001755 NM_001755 NA Approved PEBP2B uc002erb.3 Q13951 OTTHUMG00000137520 ENST00000412916.2:c.400-125A>G chr16.hg19:g.67115991A>G NA A8K347|Q13124|Q9HCT2 hg19 CCDS45508.1 0.02 -0.201715 CTGxGAT COVERED NOVEL CBFB-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421059.1 5 2.707502 KEEP 1 0 0 9 274 AA 0.99257 0.4869 0 + 3 60 102 0 0 8.191924 14 60 403 41 ENST00000412916.2 0.176471 0.490544 FBXL8 55336 __UNKNOWN__ __UNKNOWN__ 16 67195970 67195970 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:67195970T>C ENST00000521920.1 + 2 255 FBXL8_ENST00000519917.1_Intron|FBXL8_ENST00000518148.1_3'UTR|FBXL8_ENST00000258200.3_Intron Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 NA NA endometrium(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) tggtggctcatgcctgtaatc 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK002140 CCDS10831.1 16q22.1-q22.3 2013-01-22 ENSG00000135722 ENSG00000135722 55336 F-boxes / Leucine-rich repeats 17875 protein-coding gene gene with protein product 609077 NA Standard NM_018378 NA Approved Fbl8 uc002erk.1 Q96CD0 OTTHUMG00000137514 ENST00000521920.1:c.152+130T>C chr16.hg19:g.67195970T>C NA Q9NUM0 hg19 0.02 3.602074 TCAxGCC COVERED NOVEL FBXL8-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375064.1 19 18.955504 KEEP 1 0 0 63 1973 TT 1 1 0 + 5 60 174 0 0 10.746598 116 60 3439 261 ENST00000521920.1 0.041322 1 FBXL8 55336 __UNKNOWN__ __UNKNOWN__ 16 67195993 67195993 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:67195993C>G ENST00000521920.1 + 2 255 FBXL8_ENST00000519917.1_Intron|FBXL8_ENST00000518148.1_3'UTR|FBXL8_ENST00000258200.3_Intron Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 NA NA endometrium(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) agcactttggcaggccgaggc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK002140 CCDS10831.1 16q22.1-q22.3 2013-01-22 ENSG00000135722 ENSG00000135722 55336 F-boxes / Leucine-rich repeats 17875 protein-coding gene gene with protein product 609077 NA Standard NM_018378 NA Approved Fbl8 uc002erk.1 Q96CD0 OTTHUMG00000137514 ENST00000521920.1:c.152+153C>G chr16.hg19:g.67195993C>G NA Q9NUM0 hg19 0.02 1.56091 TGGxAGG COVERED NOVEL FBXL8-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375064.1 12 14.418234 KEEP 1 0 0 48 1638 CC 1 0.999559 0 + 5 60 159 0 0 10.375802 68 60 2333 174 ENST00000521920.1 0.068493 0.999559 EXOC3L1 283849 __UNKNOWN__ __UNKNOWN__ 16 67222710 67222710 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:67222710A>G ENST00000314586.6 - 4 581 c.341T>C c.(340-342)tTa>tCa p.L114S EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 114 Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}. NA exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072) exocyst (GO:0000145)|secretory granule (GO:0030141) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 TAGAGTCTGTAAGGCCTGGGA 0.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 45 47 46 NA NA NA 16 NA NA 67222710 2198 4300 6498 SO:0001583 missense AK092858 CCDS10832.1 16q22.1 2011-01-31 2011-01-31 2011-01-31 ENSG00000179044 ENSG00000179044 283849 27540 protein-coding gene gene with protein product 614117 exocyst complex component 3-like EXOC3L NA 12477932 Standard NM_178516 NM_178516 NA Approved FLJ35539, FLJ35587 uc002erx.1 Q86VI1 OTTHUMG00000137508 ENST00000314586.6:c.341T>C chr16.hg19:g.67222710A>G ENSP00000325674:p.Leu114Ser NA A8K7I9|Q8NAD2|Q8TEN2 hg19 CCDS10832.1 0.02 3.854229 TGTxAGG COVERED . . . . . . . . . . A 0.016 -1.528281 0.00959 . . ENSG00000179044 ENST00000314586 T 0.08102 3.13 5.71 2.6 0.31112 . 0.737553 0.12867 N 0.432648 T 0.02767 0.0083 N 0.01482 -0.84 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.43393 -0.9394 10 0.35671 T 0.21 0.1875 4.4234 0.11492 0.3131:0.0:0.541:0.1459 . 114 Q86VI1 EX3L1_HUMAN S 114 ENSP00000325674:L114S ENSP00000325674:L114S L - 2 0 EXOC3L1 65780211 0.000000 0.05858 0.000000 0.03702 0.068000 0.16541 0.951000 0.29135 0.345000 0.23873 -0.177000 0.13119 TTA NOVEL EXOC3L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268827.2 1 20.446827 KEEP 0 0 0 68 1963 AA 1 1 0 - 41 60 1367 0 0 121.583623 86 60 2325 239 ENST00000314586.6 0.322835 1 SLC9A5 6553 __UNKNOWN__ __UNKNOWN__ 16 67294000 67294000 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:67294000T>C ENST00000299798.11 + 12 1907 NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 NA NA ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) sodium:proton antiporter activity (GO:0015385) breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) gcctgtaatctcagcactttg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42178.1 16q22.1 2013-05-22 2012-03-22 ENSG00000135740 ENSG00000135740 6553 Solute carriers 11078 protein-coding gene gene with protein product 600477 solute carrier family 9 (sodium/hydrogen exchanger), isoform 5, solute carrier family 9 (sodium/hydrogen exchanger), member 5 NA 7759094, 9933642 Standard NM_004594 NA Approved NHE5 uc002esm.3 Q14940 OTTHUMG00000172935 ENST00000299798.11:c.1842+151T>C chr16.hg19:g.67294000T>C NA A5PKY7|Q9Y626 hg19 CCDS42178.1 0.02 -0.175405 ATCxCAG COVERED NOVEL SLC9A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421386.1 2 2.407606 KEEP 0 0 0 8 263 TT 0.99257 0.384528 0 + 3 60 101 1 0 8.010231 15 60 451 39 ENST00000299798.11 0.166667 0.387407 PLA2G15 23659 __UNKNOWN__ __UNKNOWN__ 16 68282565 68282565 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:68282565C>T ENST00000413021.2 + 1 250 PLA2G15_ENST00000566188.1_Intron|PLA2G15_ENST00000219345.5_Intron|PLA2G15_ENST00000568599.1_3'UTR|PLA2G15_ENST00000444212.2_Intron Q8NCC3 PAG15_HUMAN phospholipase A2, group XV NA NA ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739) calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543) kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 gctgggattacaggcatgagc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB017494 CCDS10864.1 16q22.1 2008-09-19 2008-09-19 2008-09-19 ENSG00000103066 ENSG00000103066 23659 17163 protein-coding gene gene with protein product 609362 lysophospholipase 3 (lysosomal phospholipase A2) LYPLA3 NA 10092508, 16973413 Standard NM_012320 XM_005255886 NA Approved LLPL, GXVPLA2 uc002evr.3 Q8NCC3 OTTHUMG00000137554 ENST00000413021.2:c.127+3109C>T chr16.hg19:g.68282565C>T NA B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3 hg19 0.02 1.004039 TTAxAGG COVERED NOVEL PLA2G15-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000433095.1 20 16.552206 KEEP 1 0 0 55 1957 CC 1 0.999835 0 + 5 60 141 0 0 8.24214 80 60 2711 197 ENST00000413021.2 0.058824 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 68505897 68505897 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:68505897A>C NA NA SMPD3 (23306 upstream) : Y_RNA (2558 downstream) NA NA NA acacagagtgaggccctgtct 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.68505897A>C NA hg19 0.02 -0.043856 GTGxGGC UNCOVERED NOVEL 0 5 3.009266 KEEP 0 0 0 10 317 AA 0.992708 0.023898 0 2 60 73 0 0 7.050501 2 60 56 21 0.5 0.024074 SNTB2 6645 __UNKNOWN__ __UNKNOWN__ 16 69246520 69246520 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:69246520G>A ENST00000528525.1 + 1 105 SNTB2_ENST00000336278.4_Intron Q13425 SNTB2_HUMAN syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) NA NA cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) gattacaggcgtgagccaccg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U40572 CCDS10873.1 16q22.1 2008-05-14 2002-08-29 ENSG00000168807 ENSG00000168807 6645 11169 protein-coding gene gene with protein product 600027 syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2) SNT2B2, SNTL, D16S2531E NA 8576247, 8183929 Standard NM_006750 NA Approved EST25263, SNT3 uc002ewu.3 Q13425 OTTHUMG00000137567 ENST00000528525.1:c.105+24871G>A chr16.hg19:g.69246520G>A NA Q9BY09 hg19 0.02 -0.184203 GGCxTGA COVERED NOVEL SNTB2-006 KNOWN NMD_likely_if_extended|basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000390959.1 4 2.407679 KEEP 2 0 0 8 270 GG 0.99257 0.420331 0 + 3 60 91 0 0 6.933673 16 60 510 49 ENST00000528525.1 0.157895 0.423478 NQO1 1728 __UNKNOWN__ __UNKNOWN__ 16 69743969 69743969 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:69743969A>C ENST00000379047.3 - 0 1861 NQO1_ENST00000561500.1_Intron|NQO1_ENST00000320623.5_3'UTR|CTD-2033A16.1_ENST00000562696.1_RNA NM_001025433.1 NP_001020604.1 P15559 NQO1_HUMAN NAD(P)H dehydrogenase, quinone 1 NA NA aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025) cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784) autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 10 Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163) ggtgtggtggatcacgcctgt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M81600 CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1 16q12-q22 2012-10-02 2001-11-30 2001-12-07 ENSG00000181019 ENSG00000181019 1728 1.6.5.2 2874 protein-coding gene gene with protein product 125860 diaphorase (NADH/NADPH) (cytochrome b-5 reductase) NMOR1, DIA4 NA 2843525 Standard NM_001286137 NA Approved DHQU, QR1, DTD uc002exp.3 P15559 OTTHUMG00000137575 ENST00000379047.3:c.*910T>G chr16.hg19:g.69743969A>C NA B2R5Y9|B4DNM7|B7ZAD1|Q86UK1 hg19 CCDS32472.1 0.02 1.818622 TGGxTCA COVERED NOVEL NQO1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000268957.2 7 3.14454 KEEP 1 4 145 61 1794 AA 1 0.993703 0 - 6 60 207 0 0 14.961825 57 60 1612 164 ENST00000379047.3 0.095238 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 69789911 69789911 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:69789911T>C NA NA NOB1 (1068 upstream) : WWP2 (6297 downstream) NA NA NA aatcccagcattttgggaggc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.69789911T>C NA hg19 0.02 3.812624 GCAxTTT COVERED NOVEL 0 22 8.01093 KEEP 1 8 300 131 4196 TT 1 0.999995 0 7 60 242 0 0 16.376485 98 60 2888 318 0.066667 0.999995 PDXDC2P 283970 __UNKNOWN__ __UNKNOWN__ 16 70059486 70059486 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:70059486A>G ENST00000531894.1 - 0 899 NR_003610.1 Q6P474 PDXD2_HUMAN pyridoxal-dependent decarboxylase domain containing 2, pseudogene NA NA carboxylic acid metabolic process (GO:0019752) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) NA agtggctcacacctgtaatcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 16q22.1 2014-03-20 2010-09-02 2010-09-02 ENSG00000196696 ENSG00000196696 283970 27559 pseudogene pseudogene pyridoxal-dependent decarboxylase domain containing 2 PDXDC2 NA Standard NR_003610 NA Approved DKFZp761H1120 uc010vlq.1 Q6P474 OTTHUMG00000167595 ENST00000531894.1: chr16.hg19:g.70059486A>G NA A8K9Z5 hg19 0.02 -0.08771 CACxCCT UNCOVERED NOVEL PDXDC2P-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000395258.1 3 2.407528 KEEP 0 0 0 8 258 AA 0.99257 0.09898 0 - 3 60 94 0 0 8.34362 6 60 179 26 ENST00000531894.1 0.333333 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 70100737 70100737 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:70100737C>A NA NA PDXDC2P (886 upstream) : PDPR (46791 downstream) NA NA NA tcagcttccccaagtgctggg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.70100737C>A NA hg19 0.02 -0.105216 CCCxAAG UNCOVERED NOVEL 0 3 2.407822 KEEP 2 0 0 8 285 CC 0.99257 0.138793 0 3 60 78 0 0 6.30116 9 60 294 29 0.25 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 70237505 70237505 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:70237505G>A NA NA CLEC18C (16707 upstream) : AC009060.1 (1797 downstream) NA NA NA tttctgcctcggcctcctgag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.70237505G>A NA hg19 0.02 1.572703 CTCxGCC COVERED NOVEL 0 7 6.755011 KEEP 1 1 30 33 1074 GG 0.999998 0.987941 0 4 50 128 0 0 8.454454 52 55 1688 122 0.071429 0.987943 DDX19A 55308 __UNKNOWN__ __UNKNOWN__ 16 70381878 70381878 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:70381878T>C ENST00000302243.7 + 1 220 DDX19A_ENST00000562509.1_Intron|RP11-529K1.3_ENST00000567706.1_Intron|DDX19A_ENST00000417604.2_Intron NM_018332.3 NP_060802.1 Q9NUU7 DD19A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A NA NA mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043) cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643) ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723) breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1) 11 Ovarian(137;0.221) cagccgtgagtcaccgcgccc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF183422 CCDS10889.1 16q22.1 2012-02-23 2012-02-23 2005-07-13 ENSG00000168872 ENSG00000168872 55308 DEAD-boxes 25628 protein-coding gene gene with protein product DEAD (Asp-Glu-Ala-As) box polypeptide 19-like DDX19L NA 12477932 Standard NM_018332 NM_018332 NA Approved FLJ11126 Q9NUU7 OTTHUMG00000137579 ENST00000302243.7:c.57+927T>C chr16.hg19:g.70381878T>C NA B2RPL0|B4DRZ7|Q53FM0 hg19 CCDS10889.1 0.02 1.534924 GAGxCAC COVERED NOVEL DDX19A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268967.2 10 11.459859 KEEP 0 1 37 51 1479 TT 1 0.999678 0 + 4 60 132 1 0 8.262403 74 60 2124 196 ENST00000302243.7 0.051282 0.999678 HYDIN 54768 __UNKNOWN__ __UNKNOWN__ 16 70892943 70892943 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:70892943A>G ENST00000393567.2 - 71 12280 NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein NA NA cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) agtggctcacacctgtaatcc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 19368 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 31 610812 hydrocephalus inducing, hydrocephalus inducing homolog (mouse) NA 12719380, 23022101 Standard NM_001198542 NA Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.12129+1027T>C chr16.hg19:g.70892943A>G NA A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 hg19 CCDS59269.1 0.02 -0.342045 CACxCCT COVERED NOVEL HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398624.3 5 2.407423 KEEP 0 0 0 8 254 AA 0.99257 0.859313 0 - 4 60 124 0 0 8.858148 32 60 955 75 ENST00000393567.2 0.111111 0.865745 HYDIN 54768 __UNKNOWN__ __UNKNOWN__ 16 70915000 70915000 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:70915000G>A ENST00000393567.2 - 61 10366 NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein NA NA cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) atggtggtgcgtgcctgtagt 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 19368 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 31 610812 hydrocephalus inducing, hydrocephalus inducing homolog (mouse) NA 12719380, 23022101 Standard NM_001198542 NA Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.10216-1341C>T chr16.hg19:g.70915000G>A NA A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 hg19 CCDS59269.1 0.02 -0.228057 TGCxTGC COVERED NOVEL HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398624.3 9 2.407272 KEEP 4 0 0 8 254 GG 0.99257 0.578599 0 - 4 60 112 0 0 8.337783 21 60 696 51 ENST00000393567.2 0.16 0.58293 HYDIN 54768 __UNKNOWN__ __UNKNOWN__ 16 71108312 71108312 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:71108312A>G ENST00000393567.2 - 14 1889 HYDIN_ENST00000543639.1_Intron|HYDIN_ENST00000288168.10_Intron|HYDIN_ENST00000448691.1_Intron|HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000393550.2_Intron NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein NA NA cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTggccaggcacggtggctca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 19368 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 31 610812 hydrocephalus inducing, hydrocephalus inducing homolog (mouse) NA 12719380, 23022101 Standard NM_001198542 NA Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.1739-4907T>C chr16.hg19:g.71108312A>G NA A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 hg19 CCDS59269.1 0.02 -0.315738 GGCxCGG COVERED NOVEL HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398624.3 8 2.708117 KEEP 0 0 0 9 280 AA 0.99254 0.812359 0 - 3 60 96 0 0 6.627309 31 60 918 63 ENST00000393567.2 0.088235 0.818465 MARVELD3 91862 __UNKNOWN__ __UNKNOWN__ 16 71675083 71675083 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:71675083T>C ENST00000299952.4 + 0 1429 MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_Intron|MARVELD3_ENST00000565261.1_3'UTR NM_001017967.3|NM_001271329.1 NP_001017967.2|NP_001258258.1 Q96A59 MALD3_HUMAN MARVEL domain containing 3 NA NA cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830) cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923) NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) Aggacgggcatggtggctcat 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013376 CCDS10904.1, CCDS32478.1, CCDS59270.1 16q22.2 2008-02-05 2004-07-12 2004-07-14 ENSG00000140832 ENSG00000140832 91862 30525 protein-coding gene gene with protein product 614094 MARVEL (membrane-associating) domain containing 3 MRVLDC3 NA Standard NM_052858 NM_001017967 NA Approved uc002fat.4 Q96A59 OTTHUMG00000137591 ENST00000299952.4:c.*153T>C chr16.hg19:g.71675083T>C NA A8K820|H3BQM5|Q96MJ4 hg19 CCDS32478.1 0.02 1.5261 GCAxGGT COVERED NOVEL MARVELD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268990.1 23 26.478688 KEEP 0 0 0 88 2747 TT 1 0.999768 0 + 4 60 133 0 0 8.295211 77 60 2274 246 ENST00000299952.4 0.049383 0.999768 AP1G1 164 __UNKNOWN__ __UNKNOWN__ 16 71783669 71783669 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:71783669T>C ENST00000299980.4 - 15 1939 AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000423132.2_Intron|AP1G1_ENST00000393512.3_Intron NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588) GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215) breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) gctgggattataggcatgagc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y12226 CCDS32480.1, CCDS45522.1 16q23 2009-08-03 ENSG00000166747 164 555 protein-coding gene gene with protein product gamma1-adaptin 603533 CLAPG1, ADTG NA 9653655, 9733768 Standard NM_001128 NA Approved uc010cgg.3 O43747 ENST00000299980.4:c.1497+127A>G chr16.hg19:g.71783669T>C NA O75709|O75842|Q9UG09|Q9Y3U4 hg19 CCDS32480.1 0.02 -0.350726 TTAxAGG COVERED NOVEL AP1G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434147.1 1 5.851597 KEEP 0 1 36 32 962 TT 0.999998 0.877706 0 - 3 60 103 1 0 7.211903 34 60 932 91 ENST00000299980.4 0.081081 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 71869853 71869853 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:71869853T>C NA NA AP1G1 (26749 upstream) : ATXN1L (10040 downstream) NA NA NA ttttttgagatggagtctcac 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.71869853T>C NA hg19 0.02 -0.289426 AGAxGGA COVERED NOVEL 0 9 4.512676 KEEP 0 0 0 15 445 TT 0.99649 0.758216 0 3 60 99 0 0 7.09786 27 60 791 67 0.1 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 73615797 73615797 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:73615797T>A NA NA CTD-2009A10.1 (23376 upstream) : RP11-53L24.1 (230722 downstream) NA NA NA atggtctcgatctcctgacct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.73615797T>A NA hg19 0.02 -0.175401 CGAxCTC UNCOVERED NOVEL 0 9 2.407443 KEEP 5 0 0 8 255 TT 0 0 0 3 60 89 0 0 6.81076 15 60 440 46 0.166667 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 74646824 74646824 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:74646824G>A NA NA GLG1 (5812 upstream) : RFWD3 (8467 downstream) NA NA NA tcgctctgtcgcccaggctgg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.74646824G>A NA hg19 0.02 1.072421 GTCxCCC COVERED NOVEL 0 7 11.135301 KEEP 0 0 0 37 1284 GG 1 0.9982 0 5 60 137 1 0 8.548828 57 60 1903 141 0.080645 0.9982 CFDP1 10428 __UNKNOWN__ __UNKNOWN__ 16 75338817 75338817 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:75338817C>T ENST00000283882.3 - 6 942 NM_006324.2 NP_006315.1 Q9UEE9 CFDP1_HUMAN craniofacial development protein 1 NA NA cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 TTAGTTCCATCATGAAAAGCT 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB009285 CCDS10916.1 16q22.2-q22.3 2011-08-12 ENSG00000153774 ENSG00000153774 10428 1873 protein-coding gene gene with protein product Bucentaur, centromere protein 29 608108 NA 9602175, 9006920, 11992732 Standard NM_006324 NM_006324 NA Approved BCNT, p97, CP27, SWC5, Yeti, CENP-29 uc002fdy.3 Q9UEE9 OTTHUMG00000137615 ENST00000283882.3:c.809+104G>A chr16.hg19:g.75338817C>T NA O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8 hg19 CCDS10916.1 0.02 -0.315197 CATxATG COVERED NOVEL CFDP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269031.2 3 10.533474 KEEP 0 0 0 35 1177 CC 0.999999 0.818464 0 - 4 60 103 0 0 6.76696 32 60 983 77 ENST00000283882.3 0.111111 0.818465 CFDP1 10428 __UNKNOWN__ __UNKNOWN__ 16 75452927 75452927 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:75452927T>G ENST00000283882.3 - 2 197 RP11-77K12.1_ENST00000561887.1_Intron|CFDP1_ENST00000564286.1_Intron|RP11-77K12.1_ENST00000567194.1_Intron NM_006324.2 NP_006315.1 Q9UEE9 CFDP1_HUMAN craniofacial development protein 1 NA NA cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 tgtagttccatctactgggga 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB009285 CCDS10916.1 16q22.2-q22.3 2011-08-12 ENSG00000153774 ENSG00000153774 10428 1873 protein-coding gene gene with protein product Bucentaur, centromere protein 29 608108 NA 9602175, 9006920, 11992732 Standard NM_006324 NM_006324 NA Approved BCNT, p97, CP27, SWC5, Yeti, CENP-29 uc002fdy.3 Q9UEE9 OTTHUMG00000137615 ENST00000283882.3:c.65-4334A>C chr16.hg19:g.75452927T>G NA O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8 hg19 CCDS10916.1 0.02 -0.262733 CCAxCTA COVERED NOVEL CFDP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269031.2 4 3.008982 KEEP 0 0 0 10 309 TT 0.992708 0.68861 0 - 3 60 92 0 0 6.543784 24 60 674 47 ENST00000283882.3 0.111111 0.693668 TMEM170A 124491 __UNKNOWN__ __UNKNOWN__ 16 75477797 75477797 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:75477797T>G ENST00000357613.4 - 0 4113 RP11-77K12.1_ENST00000561887.1_Intron|RP11-77K12.1_ENST00000567194.1_Intron Q8WVE7 T170A_HUMAN transmembrane protein 170A NA NA integral component of membrane (GO:0016021) endometrium(1) 1 gaccagcctgtccaacataat 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648484 CCDS10917.1 16q23.1 2008-06-10 2008-06-10 2008-06-10 ENSG00000166822 ENSG00000166822 124491 29577 protein-coding gene gene with protein product transmembrane protein 170 TMEM170 NA 12477932 Standard NM_145254 NM_145254 NA Approved FLJ37611 uc002fee.1 Q8WVE7 OTTHUMG00000137614 ENST00000357613.4:c.*3659A>C chr16.hg19:g.75477797T>G NA B2R4R3|B4DPS4|D3DUK2|Q7Z6F3 hg19 0.02 1.945558 CTGxCCA COVERED NOVEL TMEM170A-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000435190.1 9 4.547064 KEEP 1 1 34 27 834 TT 0.999988 0.990952 0 - 5 60 134 0 0 8.578123 52 60 1468 105 ENST00000357613.4 0.087719 0.990964 TMEM170A 124491 __UNKNOWN__ __UNKNOWN__ 16 75478094 75478094 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:75478094T>C ENST00000357613.4 - 0 3816 RP11-77K12.1_ENST00000561887.1_Intron|RP11-77K12.1_ENST00000567194.1_Intron Q8WVE7 T170A_HUMAN transmembrane protein 170A NA NA integral component of membrane (GO:0016021) endometrium(1) 1 Aggccgggtgtggtggctcat 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648484 CCDS10917.1 16q23.1 2008-06-10 2008-06-10 2008-06-10 ENSG00000166822 ENSG00000166822 124491 29577 protein-coding gene gene with protein product transmembrane protein 170 TMEM170 NA 12477932 Standard NM_145254 NM_145254 NA Approved FLJ37611 uc002fee.1 Q8WVE7 OTTHUMG00000137614 ENST00000357613.4:c.*3362A>G chr16.hg19:g.75478094T>C NA B2R4R3|B4DPS4|D3DUK2|Q7Z6F3 hg19 0.02 3.730275 GTGxGGT COVERED NOVEL TMEM170A-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000435190.1 22 18.881668 KEEP 0 0 0 63 1880 TT 1 1 0 - 7 60 240 2 0 15.951049 106 60 3072 277 ENST00000357613.4 0.061947 1 TMEM170A 124491 __UNKNOWN__ __UNKNOWN__ 16 75478104 75478104 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:75478104T>C ENST00000357613.4 - 0 3806 RP11-77K12.1_ENST00000561887.1_Intron|RP11-77K12.1_ENST00000567194.1_Intron Q8WVE7 T170A_HUMAN transmembrane protein 170A NA NA integral component of membrane (GO:0016021) endometrium(1) 1 tggtggctcatgcctgtaatc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648484 CCDS10917.1 16q23.1 2008-06-10 2008-06-10 2008-06-10 ENSG00000166822 ENSG00000166822 124491 29577 protein-coding gene gene with protein product transmembrane protein 170 TMEM170 NA 12477932 Standard NM_145254 NM_145254 NA Approved FLJ37611 uc002fee.1 Q8WVE7 OTTHUMG00000137614 ENST00000357613.4:c.*3352A>G chr16.hg19:g.75478104T>C NA B2R4R3|B4DPS4|D3DUK2|Q7Z6F3 hg19 0.02 3.508091 TCAxGCC COVERED NOVEL TMEM170A-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000435190.1 16 16.850101 KEEP 0 0 0 56 1736 TT 1 0.999999 0 - 6 60 196 0 0 12.457501 100 60 2951 239 ENST00000357613.4 0.056604 0.999999 ADAT1 23536 __UNKNOWN__ __UNKNOWN__ 16 75653551 75653551 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:75653551T>G ENST00000307921.3 - 4 384 NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 NA NA tRNA processing (GO:0008033) metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251) breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 gctcacacctttaatcccagc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF125188 CCDS10922.1 16q23 2008-02-05 ENSG00000065457 ENSG00000065457 23536 228 protein-coding gene gene with protein product 604230 NA 10430867 Standard NM_012091 NM_012091 NA Approved uc002feo.2 Q9BUB4 OTTHUMG00000137611 ENST00000307921.3:c.238+612A>C chr16.hg19:g.75653551T>G NA Q9NVB7|Q9UNG3 hg19 CCDS10922.1 0.02 3.523002 CCTxTAA COVERED NOVEL ADAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269027.1 28 5.824208 KEEP 0 3 108 57 1825 TT 1 1 0 - 14 60 486 0 1 36.30048 110 60 3232 299 ENST00000307921.3 0.112903 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 75850182 75850182 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:75850182T>G NA NA AC025287.1 (116093 upstream) : RP11-2C15.1 (22345 downstream) NA NA NA gatctctctttcttttcccca 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.75850182T>G NA hg19 0.02 -0.306993 CTTxCTT COVERED NOVEL 0 5 2.708175 KEEP 1 0 0 9 282 TT 0.99254 0.794276 0 3 60 101 0 0 7.087096 32 60 978 72 0.085714 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 77659201 77659201 __UNKNOWN__ IGR SNP G G A rs143050602 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:77659201G>A NA NA RP11-571O6.1 (14623 upstream) : AC092724.1 (84996 downstream) NA NA NA ttgggaggccgaggtgggagg 0.468 NA G||| 16 0.00319489 0.0113 0.0014 5008 , , NA 14982 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.77659201G>A NA hg19 0.02 -0.219285 GCCxAGG COVERED NOVEL 0 7 3.009804 KEEP 1 0 0 10 350 GG 0.992708 0.548856 0 3 60 89 0 0 6.527688 19 60 601 50 0.136364 0.552887 WWOX 51741 __UNKNOWN__ __UNKNOWN__ 16 78801068 78801068 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:78801068G>A ENST00000566780.1 + 8 1422 WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron NM_016373.2 NP_057457.1 Q9NZC7 WWOX_HUMAN WW domain containing oxidoreductase NA NA cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634) coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983) large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 7 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) cccaggctggggtgcagtggc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF187015 CCDS42196.1, CCDS42197.1 16q23.3-q24.1 2012-08-15 2002-01-14 ENSG00000186153 ENSG00000186153 51741 1.1.1.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 12799 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 41C, member 1 605131 WW domain-containing oxidoreductase NA 10786676, 10861292, 19027726 Standard XR_243411 NA Approved FOR, WOX1, SDR41C1 uc002ffk.3 Q9NZC7 OTTHUMG00000176851 ENST00000566780.1:c.1056+334419G>A chr16.hg19:g.78801068G>A NA A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5 hg19 CCDS42196.1 0.02 -0.209646 TGGxGTG COVERED NOVEL WWOX-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434328.1 9 2.407776 KEEP 0 0 0 8 276 GG 0.99257 0.518282 0 + 4 60 100 0 0 7.406654 18 60 574 42 ENST00000566780.1 0.181818 0.522161 WWOX 51741 __UNKNOWN__ __UNKNOWN__ 16 79079767 79079767 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:79079767C>T ENST00000566780.1 + 9 1422 WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron NM_016373.2 NP_057457.1 Q9NZC7 WWOX_HUMAN WW domain containing oxidoreductase NA NA cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634) coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983) large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 7 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) ggcacaatctcagctcactgc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF187015 CCDS42196.1, CCDS42197.1 16q23.3-q24.1 2012-08-15 2002-01-14 ENSG00000186153 ENSG00000186153 51741 1.1.1.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 12799 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 41C, member 1 605131 WW domain-containing oxidoreductase NA 10786676, 10861292, 19027726 Standard XR_243411 NA Approved FOR, WOX1, SDR41C1 uc002ffk.3 Q9NZC7 OTTHUMG00000176851 ENST00000566780.1:c.1057-165738C>T chr16.hg19:g.79079767C>T NA A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5 hg19 CCDS42196.1 0.02 -0.254361 TCTxAGC UNCOVERED NOVEL WWOX-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434328.1 29 2.708808 KEEP 21 0 0 9 315 CC 0 0 0 + 5 47 129 0 0 9.854956 20 60 665 63 ENST00000566780.1 0.2 0.668523 MAF 4094 __UNKNOWN__ __UNKNOWN__ 16 79628181 79628181 __UNKNOWN__ 3'UTR SNP T T C rs2287974 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:79628181T>C ENST00000326043.4 - 0 2199 MAF_ENST00000569649.1_Intron NM_005360.4 NP_005351.2 O75444 MAF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog NA NA cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366) chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5) 10 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) CCGGTCTCTATGAAACCCCCA 0.383 NA T IGH@ MM T||| 1573 0.314097 0.2277 0.2939 5008 , , NA 15724 0.3978 NA 0.3658 False NA ,,, NA NA NA 2504 0.3057 NA NA NA Dom yes 16 16q22-q23 4094 v-maf musculoaponeurotic fibrosarcoma oncogene homolog L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10928.1, CCDS42198.1 16q22-q23 2013-07-09 2013-07-09 ENSG00000178573 ENSG00000178573 4094 6776 protein-coding gene gene with protein product 177075 NA 14998484 Standard NM_005360 NA Approved c-MAF uc002ffm.3 O75444 OTTHUMG00000137621 ENST00000326043.4:c.*176A>G chr16.hg19:g.79628181T>C NA Q66I47|Q9UP93 hg19 CCDS10928.1 0.02 -0.298216 CTAxGAA COVERED NOVEL MAF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000269042.1 1 9.328676 KEEP 0 0 0 31 986 TT 0.999997 0.781058 0 - 3 60 100 0 0 7.026846 31 60 937 85 ENST00000326043.4 0.088235 0.78106 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81222376 81222376 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:81222376A>G ENST00000525539.1 - 0 1789 PKD1L2_ENST00000337114.4_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 gaacccaggaagtggaggttg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: chr16.hg19:g.81222376A>G NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 -0.219267 GGAxGTG COVERED NOVEL PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000387972.2 2 2.708452 KEEP 0 0 0 9 294 AA 0.99254 0.548763 0 - 4 60 138 0 0 11.26878 17 60 505 35 ENST00000525539.1 0.190476 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 81446562 81446562 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:81446562A>G NA NA GAN (22073 upstream) : CMIP (32212 downstream) NA NA NA caaagtgctgagattacaggt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.81446562A>G NA hg19 0.02 -0.245602 CTGxGAT COVERED NOVEL 0 10 2.708458 KEEP 3 0 0 9 292 AA 0.99254 0.636563 0 3 60 100 0 0 7.448874 22 60 680 60 0.12 0.641347 HSDL1 83693 __UNKNOWN__ __UNKNOWN__ 16 84155989 84155989 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:84155989G>A ENST00000219439.4 - 0 3415 NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 NA NA mitochondrion (GO:0005739) oxidoreductase activity (GO:0016491) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 tttgagacagggtctcgctct 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF237684 CCDS10942.1, CCDS54046.1 16q24 2011-09-20 ENSG00000103160 ENSG00000103160 83693 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 16475 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 12C, member 3 NA 12153137, 19027726 Standard NM_031463 NM_031463 NA Approved SDR12C3 uc002fhk.2 Q3SXM5 OTTHUMG00000137635 ENST00000219439.4:c.*2246C>T chr16.hg19:g.84155989G>A NA B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22 hg19 CCDS10942.1 0.02 -0.350874 CAGxGTC COVERED NOVEL HSDL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269076.3 4 8.71695 KEEP 0 0 0 29 926 GG 0.999997 0.888873 0 - 4 70 122 1 0 8.657623 32 70 1035 84 ENST00000219439.4 0.111111 0.888875 DNAAF1 123872 __UNKNOWN__ __UNKNOWN__ 16 84208697 84208697 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:84208697A>G ENST00000378553.5 + 10 1822 DNAAF1_ENST00000563818.1_Intron NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 NA NA axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356) axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886) dynein binding (GO:0045502) NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 cctgacctcaagtgatccacc 0.532 NA OREG0023983 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024009 CCDS10943.2 16q24.1 2012-05-03 2011-06-09 2011-06-09 ENSG00000154099 ENSG00000154099 123872 30539 protein-coding gene gene with protein product outer row dynein assembly 7 homolog (Chlamydomonas) 613190 leucine rich repeat containing 50 LRRC50 NA 19944405 Standard NM_178452 NM_178452 NA Approved FLJ25330, ODA7, CILD13 uc002fhl.4 Q8NEP3 OTTHUMG00000128517 ENST00000378553.5:c.1698+369A>G chr16.hg19:g.84208697A>G 1227 B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6 hg19 CCDS10943.2 0.02 -0.228032 TCAxGTG UNCOVERED NOVEL DNAAF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250328.3 10 2.407624 KEEP 7 0 0 8 265 AA 0 0 0 + 3 60 94 0 0 6.966539 20 60 599 57 ENST00000378553.5 0.130435 0.58293 DNAAF1 123872 __UNKNOWN__ __UNKNOWN__ 16 84211214 84211214 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:84211214T>C ENST00000378553.5 + 12 2189 DNAAF1_ENST00000563818.1_Intron NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 NA NA axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356) axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886) dynein binding (GO:0045502) NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 ggattacaggtatgagccacc 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024009 CCDS10943.2 16q24.1 2012-05-03 2011-06-09 2011-06-09 ENSG00000154099 ENSG00000154099 123872 30539 protein-coding gene gene with protein product outer row dynein assembly 7 homolog (Chlamydomonas) 613190 leucine rich repeat containing 50 LRRC50 NA 19944405 Standard NM_178452 NM_178452 NA Approved FLJ25330, ODA7, CILD13 uc002fhl.4 Q8NEP3 OTTHUMG00000128517 ENST00000378553.5:c.2066-121T>C chr16.hg19:g.84211214T>C NA B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6 hg19 CCDS10943.2 0.02 3.789831 AGGxATG COVERED NOVEL DNAAF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250328.3 19 5.409705 KEEP 0 3 106 55 1573 TT 1 0.999999 0 + 5 60 169 0 0 10.380787 109 60 2945 228 ENST00000378553.5 0.04386 0.999999 GINS2 51659 __UNKNOWN__ __UNKNOWN__ 16 85710531 85710531 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:85710531T>C ENST00000253462.3 - 0 1945 NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) NA NA DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278) nucleoplasm (GO:0005654) endometrium(2)|large_intestine(2)|lung(2) 6 agtacagtggtgcaatcttgg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC003186 CCDS10953.1 16q24.1 2008-02-05 ENSG00000131153 ENSG00000131153 51659 24575 protein-coding gene gene with protein product 610609 NA 11042152, 10810093 Standard NM_016095 NM_016095 NA Approved PSF2, Pfs2 uc002fja.3 Q9Y248 OTTHUMG00000137646 ENST00000253462.3:c.*1287A>G chr16.hg19:g.85710531T>C NA D3DUM5|Q6IAG9 hg19 CCDS10953.1 0.02 -0.42051 TGGxGCA COVERED NOVEL GINS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269098.1 8 3.31012 KEEP 0 0 0 11 347 TT 0.993072 0.941832 0 - 3 60 96 0 0 6.343383 39 60 1090 78 ENST00000253462.3 0.071429 0.948402 GINS2 51659 __UNKNOWN__ __UNKNOWN__ 16 85710728 85710728 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:85710728T>C ENST00000253462.3 - 0 1748 NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) NA NA DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278) nucleoplasm (GO:0005654) endometrium(2)|large_intestine(2)|lung(2) 6 ccacctgccttggcctcccaa 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC003186 CCDS10953.1 16q24.1 2008-02-05 ENSG00000131153 ENSG00000131153 51659 24575 protein-coding gene gene with protein product 610609 NA 11042152, 10810093 Standard NM_016095 NM_016095 NA Approved PSF2, Pfs2 uc002fja.3 Q9Y248 OTTHUMG00000137646 ENST00000253462.3:c.*1090A>G chr16.hg19:g.85710728T>C NA D3DUM5|Q6IAG9 hg19 CCDS10953.1 0.02 -0.306619 CCTxGGC COVERED NOVEL GINS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269098.1 7 3.008647 KEEP 0 0 0 10 298 TT 0.993072 0.794702 0 - 3 60 96 0 0 6.800637 27 60 726 60 ENST00000253462.3 0.1 0.800245 C16orf95 100506581 __UNKNOWN__ __UNKNOWN__ 16 87323932 87323932 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:87323932G>A ENST00000562840.1 - 1 110 RP11-178L8.5_ENST00000569872.1_RNA Q9H693 CP095_HUMAN chromosome 16 open reading frame 95 NA NA NA tgctgggattgcaggcatgag 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54049.1, CCDS58491.1, CCDS73921.1 16q24.2 2012-10-10 ENSG00000260456 ENSG00000260456 100506581 40033 protein-coding gene gene with protein product NA Standard NM_001195124 NM_001195124 NA Approved uc021tmh.1 Q9H693 OTTHUMG00000175680 ENST00000562840.1:c.1540+12326C>T chr16.hg19:g.87323932G>A NA hg19 0.02 -0.271905 ATTxCAG COVERED NOVEL C16orf95-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000430786.1 6 2.407832 KEEP 1 0 0 8 283 GG 0.99257 0.711986 0 - 4 60 102 0 0 7.001753 26 60 894 55 ENST00000562840.1 0.133333 0.717315 SLC7A5 8140 __UNKNOWN__ __UNKNOWN__ 16 87865601 87865601 __UNKNOWN__ 3'UTR SNP G G T rs567766105 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:87865601G>T ENST00000261622.4 - 0 2564 SLC7A5_ENST00000565644.1_3'UTR NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605) endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042) CCGGCCAGAAGGGGCTGCCGG 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF077866 CCDS10964.1 16q24.3 2013-05-22 2011-07-12 ENSG00000103257 ENSG00000103257 8140 CD molecules, Solute carriers 11063 protein-coding gene gene with protein product 600182 NA 9751058, 7829099 Standard NM_003486 XM_006721286 NA Approved LAT1, E16, D16S469E, MPE16, CD98 uc002fkm.3 Q01650 OTTHUMG00000137658 ENST00000261622.4:c.*975C>A chr16.hg19:g.87865601G>T NA Q8IV97|Q9UBN8|Q9UP15|Q9UQC0 hg19 CCDS10964.1 0.02 6.201489 GAAxGGG COVERED NOVEL SLC7A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269110.2 3 18.057502 KEEP 0 0 0 60 2077 GG 1 1 0 - 31 60 886 1 0 65.878959 170 60 5813 344 ENST00000261622.4 0.154229 1 SLC7A5 8140 __UNKNOWN__ __UNKNOWN__ 16 87872179 87872179 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:87872179A>G ENST00000261622.4 - 6 1109 SLC7A5_ENST00000565644.1_Intron NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605) endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042) gattacaggtatgagccacca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF077866 CCDS10964.1 16q24.3 2013-05-22 2011-07-12 ENSG00000103257 ENSG00000103257 8140 CD molecules, Solute carriers 11063 protein-coding gene gene with protein product 600182 NA 9751058, 7829099 Standard NM_003486 XM_006721286 NA Approved LAT1, E16, D16S469E, MPE16, CD98 uc002fkm.3 Q01650 OTTHUMG00000137658 ENST00000261622.4:c.1043+140T>C chr16.hg19:g.87872179A>G NA Q8IV97|Q9UBN8|Q9UP15|Q9UQC0 hg19 CCDS10964.1 0.02 1.590639 GGTxTGA COVERED NOVEL SLC7A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269110.2 20 6.953872 KEEP 1 1 37 36 1069 AA 1 0.999881 0 - 4 60 136 0 0 8.661799 74 60 2081 167 ENST00000261622.4 0.051282 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 88246304 88246304 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:88246304A>G NA NA LA16c-444G7.2 (17481 upstream) : LA16c-444G7.1 (22086 downstream) NA NA NA ctcccaccttagcctcccaag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.88246304A>G NA hg19 0.02 -0.263077 CTTxGCC COVERED NOVEL 0 12 2.708398 KEEP 5 0 0 9 288 AA 0.99257 0.688515 0 4 51 137 0 0 10.623148 24 60 688 57 0.142857 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 89280186 89280186 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:89280186C>A NA NA SLC22A31 (12114 upstream) : RP11-46C24.7 (1451 downstream) NA NA NA cctgggcaaccgagtgagact 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.89280186C>A NA hg19 0.02 -0.210521 AACxGAG COVERED NOVEL 0 4 3.00955 KEEP 0 0 0 10 335 CC 0.992708 0.518353 0 3 60 90 0 1 6.692653 18 60 596 48 0.142857 0.522161 ANKRD11 29123 __UNKNOWN__ __UNKNOWN__ 16 89403336 89403336 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:89403336A>G ENST00000301030.4 - 3 402 ANKRD11_ENST00000378330.2_Intron NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 NA NA bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ctagcactttaggaggccgag 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY373756 CCDS32513.1 16q24.3 2013-01-10 ENSG00000167522 29123 Ankyrin repeat domain containing 21316 protein-coding gene gene with protein product 611192 NA 11483580 Standard NM_013275 NM_001256182 NA Approved LZ16, T13 uc002fnc.2 Q6UB99 ENST00000301030.4:c.59-19850T>C chr16.hg19:g.89403336A>G NA Q6NTG1|Q6QMF8 hg19 CCDS32513.1 0.02 -0.403096 TTTxGGA COVERED NOVEL ANKRD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430462.3 8 3.009251 KEEP 0 0 0 10 315 AA 0.992708 0.934874 0 - 3 60 100 0 0 6.742633 39 60 1114 77 ENST00000301030.4 0.071429 0.941741 ANKRD11 29123 __UNKNOWN__ __UNKNOWN__ 16 89481874 89481874 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:89481874G>A ENST00000301030.4 - 2 402 ANKRD11_ENST00000378330.2_Intron NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 NA NA bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) gggtttcaccgtgttagccag 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY373756 CCDS32513.1 16q24.3 2013-01-10 ENSG00000167522 29123 Ankyrin repeat domain containing 21316 protein-coding gene gene with protein product 611192 NA 11483580 Standard NM_013275 NM_001256182 NA Approved LZ16, T13 uc002fnc.2 Q6UB99 ENST00000301030.4:c.58+2817C>T chr16.hg19:g.89481874G>A NA Q6NTG1|Q6QMF8 hg19 CCDS32513.1 0.02 -0.114013 ACCxTGT UNCOVERED NOVEL ANKRD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430462.3 3 2.407797 KEEP 6 0 0 8 278 GG 0 0 0 - 3 44 83 0 0 6.682198 10 60 310 32 ENST00000301030.4 0.230769 0.162467 ANKRD11 29123 __UNKNOWN__ __UNKNOWN__ 16 89532388 89532388 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:89532388A>G ENST00000301030.4 - 1 317 ANKRD11_ENST00000378330.2_Intron NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 NA NA bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) aaagtgctggaattacaggcg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY373756 CCDS32513.1 16q24.3 2013-01-10 ENSG00000167522 29123 Ankyrin repeat domain containing 21316 protein-coding gene gene with protein product 611192 NA 11483580 Standard NM_013275 NM_001256182 NA Approved LZ16, T13 uc002fnc.2 Q6UB99 ENST00000301030.4:c.143+24264T>C chr16.hg19:g.89532388A>G NA Q6NTG1|Q6QMF8 hg19 CCDS32513.1 0.02 -0.245568 TGGxATT COVERED NOVEL ANKRD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430462.3 5 2.407352 KEEP 0 0 0 8 255 AA 0.99257 0.636582 0 - 3 60 101 0 0 7.605669 21 60 619 58 ENST00000301030.4 0.125 0.641347 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89806799 89806799 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:89806799A>G ENST00000389301.3 - 39 3859 ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) tgtaatcccaacactttggga 0.522 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.3829-292T>C chr16.hg19:g.89806799A>G NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 -0.350844 CCAxCAC COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 6 3.91153 KEEP 0 0 0 13 407 AA 0.994391 0.872784 0 - 3 60 97 0 0 6.649632 33 60 1004 74 ENST00000389301.3 0.083333 0.877708 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89807022 89807022 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:89807022T>C ENST00000389301.3 - 38 3859 ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ccagcctgggtgacagagtga 0.522 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.3828+189A>G chr16.hg19:g.89807022T>C NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 1.520676 GGGxGAC COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 11 7.147983 KEEP 2 1 35 36 1019 TT 0.999999 0.999961 0 - 4 40 140 1 0 8.929059 80 60 2151 162 ENST00000389301.3 0.047619 0.999962 DBNDD1 79007 __UNKNOWN__ __UNKNOWN__ 16 90076485 90076485 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:90076485G>A ENST00000002501.6 - 2 163 DBNDD1_ENST00000392973.3_5'UTR|DBNDD1_ENST00000304733.3_5'UTR|DBNDD1_ENST00000568838.1_Intron NM_001042610.1 NP_001036075.1 Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 NA NA cytoplasm (GO:0005737) kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) atggagtctcgctctgtcacc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 34 34 34 NA NA NA 16 NA NA 90076485 1896 4107 6003 SO:0001627 intron_variant AK090696 CCDS10991.2, CCDS42223.1, CCDS73931.1 16q24.3 2008-02-05 ENSG00000003249 ENSG00000003249 79007 28455 protein-coding gene gene with protein product NA 12477932 Standard NM_024043 NM_001288708 NA Approved MGC3101, FLJ12582 uc002fqe.1 Q9H9R9 OTTHUMG00000138984 ENST00000002501.6:c.32-647C>T chr16.hg19:g.90076485G>A NA B4DQS3|Q69YT2|Q9BW25 hg19 CCDS42223.1 0.02 4.356825 CTCxCTC COVERED NOVEL DBNDD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000272872.1 46 8.404069 KEEP 4 8 248 115 4009 GG 1 1 0 - 8 60 232 1 2 13.824193 128 60 4277 401 ENST00000002501.6 0.058824 1 DBNDD1 79007 __UNKNOWN__ __UNKNOWN__ 16 90076585 90076585 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr16:90076585A>C ENST00000002501.6 - 2 163 DBNDD1_ENST00000392973.3_5'UTR|DBNDD1_ENST00000568838.1_Intron NM_001042610.1 NP_001036075.1 Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 NA NA cytoplasm (GO:0005737) kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) ccctgagtagatgggattaca 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK090696 CCDS10991.2, CCDS42223.1, CCDS73931.1 16q24.3 2008-02-05 ENSG00000003249 ENSG00000003249 79007 28455 protein-coding gene gene with protein product NA 12477932 Standard NM_024043 NM_001288708 NA Approved MGC3101, FLJ12582 uc002fqe.1 Q9H9R9 OTTHUMG00000138984 ENST00000002501.6:c.32-747T>G chr16.hg19:g.90076585A>C NA B4DQS3|Q69YT2|Q9BW25 hg19 CCDS42223.1 0.02 -0.210469 TAGxTGG COVERED NOVEL DBNDD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000272872.1 1 3.039298 KEEP 0 1 34 22 604 AA 0.999892 0.522105 0 - 3 60 97 0 0 7.392535 18 60 509 48 ENST00000002501.6 0.142857 0.522161 NXN 64359 __UNKNOWN__ __UNKNOWN__ 17 818433 818433 __UNKNOWN__ Intron SNP A A C rs372700019 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:818433A>C ENST00000336868.3 - 1 452 NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin NA NA cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) ctcagcctccaaaagtgctgg 0.463 NA C||| 3 0.000599042 0.0023 0 5008 , , NA 17793 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10998.1, CCDS56013.1 17p13 2007-08-10 ENSG00000167693 ENSG00000167693 64359 18008 protein-coding gene gene with protein product 612895 NA Standard NM_022463 NA Approved FLJ12614, NRX uc002fsa.3 Q6DKJ4 OTTHUMG00000090307 ENST00000336868.3:c.360+64125T>G chr17.hg19:g.818433A>C NA B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1 hg19 CCDS10998.1 0.02 -0.149105 TCCxAAA COVERED NOVEL NXN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206669.1 4 2.70814 KEEP 0 0 0 9 280 AA 0.99254 0.289823 0 - 3 60 102 0 0 8.191743 14 60 418 39 ENST00000336868.3 0.176471 0.292001 CRK 1398 __UNKNOWN__ __UNKNOWN__ 17 1325735 1325735 __UNKNOWN__ 3'UTR SNP A A G rs374950565 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:1325735A>G ENST00000300574.2 - 0 2127 CRK_ENST00000398970.5_3'UTR|CRK_ENST00000574295.1_3'UTR NM_016823.3 NP_058431.2 P46108 CRK_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog NA NA activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) gggattacagacgtgagccac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D10656 CCDS11002.1, CCDS45561.1 17p13 2013-07-09 2013-07-09 ENSG00000167193 ENSG00000167193 1398 SH2 domain containing 2362 protein-coding gene gene with protein product 164762 NA 1690891 Standard NM_016823 NM_005206 NA Approved uc002fsl.3 P46108 OTTHUMG00000090317 ENST00000300574.2:c.*1072T>C chr17.hg19:g.1325735A>G NA A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0 hg19 CCDS11002.1 0.02 -0.385918 CAGxCGT COVERED NOVEL CRK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206679.1 8 6.62097 KEEP 0 0 0 22 732 AA 0.999892 0.918072 0 - 3 60 105 0 0 7.305654 37 60 1111 97 ENST00000300574.2 0.075 0.918171 WDR81 124997 __UNKNOWN__ __UNKNOWN__ 17 1635508 1635508 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:1635508A>G ENST00000409644.1 + 5 4157 WDR81_ENST00000446363.1_Intron|WDR81_ENST00000545662.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron NM_001163809.1 NP_001157281.1 Q562E7 WDR81_HUMAN WD repeat domain 81 NA NA negative regulation of phosphatase activity (GO:0010923) transferase activity, transferring phosphorus-containing groups (GO:0016772) cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) tccagcctggatgacagagca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074111 CCDS54061.1, CCDS54062.1, CCDS54063.1 17p13.3 2014-06-13 ENSG00000167716 ENSG00000167716 124997 WD repeat domain containing 26600 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 166 614218 NA Standard NM_152348 NM_001163673 NA Approved FLJ33817, PPP1R166 uc002ftj.2 Q562E7 OTTHUMG00000153941 ENST00000409644.1:c.4158-111A>G chr17.hg19:g.1635508A>G NA B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1 hg19 CCDS54062.1 0.02 -0.166653 TGGxTGA COVERED NOVEL WDR81-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333118.2 4 3.310026 KEEP 1 0 0 11 352 AA 0.993072 0.351495 0 + 3 60 102 0 0 8.582057 10 60 294 40 ENST00000409644.1 0.230769 0.353947 SMG6 23293 __UNKNOWN__ __UNKNOWN__ 17 2131793 2131793 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:2131793C>T ENST00000263073.6 - 10 2920 SMG6_ENST00000536871.2_Intron|SMG6_ENST00000544865.1_Intron|SMG6_ENST00000354901.4_Intron NM_017575.4 NP_060045.4 Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor NA NA gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697) endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 agtgctgggactacaggcgtg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(59;28 1088 11621 25887 46638 50814) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018275 CCDS11016.1, CCDS58498.1 17p13.3 2013-07-02 2013-07-02 2006-02-16 ENSG00000070366 ENSG00000070366 23293 17809 protein-coding gene gene with protein product EST1 telomerase component homolog A (S. cerevisiae) 610963 chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) C17orf31 NA 12676087, 12699629 Standard NM_017575 NA Approved KIAA0732, SMG-6, EST1A uc002fub.1 Q86US8 OTTHUMG00000177578 ENST00000263073.6:c.2869+7992G>A chr17.hg19:g.2131793C>T NA B7Z874|O94837|Q86VH6|Q9UF60 hg19 CCDS11016.1 0.02 -0.157906 GGAxTAC COVERED NOVEL SMG6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437826.3 4 3.310578 KEEP 0 0 0 11 382 CC 0.993072 0.32057 0 - 3 60 94 0 0 7.31003 15 60 513 39 ENST00000263073.6 0.166667 0.322807 METTL16 79066 __UNKNOWN__ __UNKNOWN__ 17 2380398 2380398 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:2380398A>G ENST00000263092.6 - 3 456 METTL16_ENST00000571669.2_Intron|METTL16_ENST00000538844.1_Intron NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 NA NA methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822) kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 cactttgggaagccaaggcag 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027410 CCDS42232.1 17p13.3 2011-03-02 2011-03-02 2011-03-02 ENSG00000127804 ENSG00000127804 79066 28484 protein-coding gene gene with protein product methyltransferase 10 domain containing METT10D NA 18021804 Standard NM_024086 NM_024086 NA Approved MGC3329 uc002fut.3 Q86W50 ENST00000263092.6:c.328+581T>C chr17.hg19:g.2380398A>G NA D3DTI8|Q86TE5|Q96T16|Q9BVG7 hg19 CCDS42232.1 0.02 -0.201737 GGAxGCC COVERED NOVEL METTL16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437653.2 5 2.407588 KEEP 0 0 0 8 264 AA 0.99257 0.4869 0 - 3 60 107 0 0 8.391833 18 60 546 50 ENST00000263092.6 0.142857 0.490544 ASPA 443 __UNKNOWN__ __UNKNOWN__ 17 3404049 3404049 __UNKNOWN__ 3'UTR SNP C C T rs189577131 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:3404049C>T ENST00000263080.2 + 0 2767 SPATA22_ENST00000541913.1_Intron NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase NA NA aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) ccgcctgcctcggcctcccaa 0.532 NA c||| 16 0.00319489 0.0068 0 5008 , , NA 17199 0.004 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant S67156 CCDS11028.1 17p13.3 2010-06-24 2010-06-24 ENSG00000108381 ENSG00000108381 443 3.5.1.15 756 protein-coding gene gene with protein product aminoacylase 2, Canavan disease 608034 aspartoacylase (aminoacylase 2, Canavan disease) NA 8252036 Standard NM_000049 NM_001128085 NA Approved ASP, ACY2 uc002fvq.3 P45381 OTTHUMG00000090655 ENST00000263080.2:c.*1667C>T chr17.hg19:g.3404049C>T NA hg19 CCDS11028.1 0.02 0.958446 CCTxGGC COVERED NOVEL ASPA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207315.1 12 12.474054 KEEP 4 1 30 52 1769 CC 1 0.999559 0 + 5 60 136 0 0 7.96546 72 70 2277 179 ENST00000263080.2 0.064935 0.999559 CYB5D2 124936 __UNKNOWN__ __UNKNOWN__ 17 4053044 4053044 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:4053044A>G ENST00000301391.3 + 2 750 CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron NM_144611.3 NP_653212.1 Q8WUJ1 NEUFC_HUMAN cytochrome b5 domain containing 2 NA NA nervous system development (GO:0007399) extracellular region (GO:0005576) heme binding (GO:0020037) breast(1)|large_intestine(3)|liver(2)|ovary(1) 7 agtgagctgaaatcatgccac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK172844 CCDS11044.1, CCDS58501.1 17p13.2 2006-03-10 124936 28471 protein-coding gene gene with protein product NA Standard NM_144611 NM_144611 NA Approved MGC32124 uc002fxm.4 Q8WUJ1 ENST00000301391.3:c.251-141A>G chr17.hg19:g.4053044A>G NA B2R7R6|D3DTJ9|I3L1K2 hg19 CCDS11044.1 0.02 -0.175378 TGAxATC COVERED NOVEL CYB5D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438698.1 2 2.242184 KEEP 0 1 33 19 629 AA 0.999863 0.387354 0 + 3 60 105 0 0 8.333541 16 60 452 41 ENST00000301391.3 0.157895 0.387407 ANKFY1 51479 __UNKNOWN__ __UNKNOWN__ 17 4104628 4104628 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:4104628G>A ENST00000574367.1 - 8 913 ANKFY1_ENST00000570535.1_Intron|ANKFY1_ENST00000341657.4_Intron|ANKFY1_ENST00000433651.1_Intron Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 NA NA endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147) early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020) metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 cgcccaggccGATTGTCTCTT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033081 CCDS42236.1, CCDS58502.1 17p13.3 2013-01-10 ENSG00000185722 ENSG00000185722 51479 Zinc fingers, FYVE domain containing, BTB/POZ domain containing, Ankyrin repeat domain containing 20763 protein-coding gene gene with protein product 607927 NA 10940552, 17273843 Standard NM_016376 NM_016376 NA Approved ANKHZN, KIAA1255, ZFYVE14, BTBD23 uc002fxn.3 Q9P2R3 OTTHUMG00000177727 ENST00000574367.1:c.899-3756C>T chr17.hg19:g.4104628G>A NA A8KA65|Q5RKV4|Q9ULG5 hg19 CCDS42236.1 0.02 -0.122769 GCCxATT COVERED NOVEL ANKFY1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000438705.1 5 2.708498 KEEP 0 0 0 9 304 GG 0.99254 0.194847 0 - 3 60 79 0 0 6.401228 9 60 276 28 ENST00000574367.1 0.25 0.196312 UBE2G1 7326 __UNKNOWN__ __UNKNOWN__ 17 4261082 4261082 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:4261082G>A ENST00000396981.2 - 1 212 UBE2G1_ENST00000572484.1_Intron NM_003342.4 NP_003333.1 P62253 UB2G1_HUMAN ubiquitin-conjugating enzyme E2G 1 NA NA protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|ubiquitin-dependent protein catabolic process (GO:0006511) extracellular vesicular exosome (GO:0070062) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842) large_intestine(2)|lung(4)|skin(1) 7 aacaagagcggaactctgtct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC026288 CCDS32532.1 17p13.2 2014-05-30 2011-05-19 ENSG00000132388 ENSG00000132388 7326 Ubiquitin-conjugating enzymes E2 12482 protein-coding gene gene with protein product 601569 ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7), ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans), ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast) UBE2G NA 8893823 Standard NM_003342 NM_003342 NA Approved UBC7 uc002fxs.3 P62253 OTTHUMG00000177826 ENST00000396981.2:c.46+8483C>T chr17.hg19:g.4261082G>A NA B2R7P2|D3DTK0|Q99462 hg19 CCDS32532.1 0.02 -0.035088 GCGxAAC UNCOVERED NOVEL UBE2G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439099.1 3 2.407842 KEEP 1 0 0 8 284 GG 0.99257 0.019833 0 - 2 60 62 0 0 6.324479 1 60 34 15 ENST00000396981.2 0.666667 0.019982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 5008803 5008803 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:5008803A>G NA NA ZFP3 (9134 upstream) : ZNF232 (32 downstream) NA NA NA gcgacagagcaagactccgtc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.5008803A>G NA hg19 0.02 -0.21926 AGCxAGA COVERED NOVEL 0 3 2.406959 KEEP 0 0 0 8 240 AA 0.99257 0.54878 0 3 60 97 0 0 7.265107 20 60 587 40 0.130435 0.552887 SCIMP 388325 __UNKNOWN__ __UNKNOWN__ 17 5124340 5124340 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:5124340A>G ENST00000574081.1 - 3 314 SCIMP_ENST00000574297.1_Intron|SCIMP_ENST00000399600.4_Intron|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000571689.1_RNA NM_001271842.1|NM_207103.3 NP_001258771.1|NP_996986.1 Q6UWF3 SCIMP_HUMAN SLP adaptor and CSK interacting membrane protein NA NA positive regulation of ERK1 and ERK2 cascade (GO:0070374) immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259) NA gcgacagagcaagactccatc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY358809 CCDS42242.1, CCDS62044.1 17p13.2 2011-11-24 2011-11-23 2011-11-23 ENSG00000161929 ENSG00000161929 388325 33504 protein-coding gene gene with protein product SLP65/SLP76, Csk-interacting membrane protein 614406 chromosome 17 open reading frame 87 C17orf87 NA 21930792 Standard NM_207103 NM_207103 NA Approved DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428 uc002gbh.3 Q6UWF3 OTTHUMG00000132914 ENST00000574081.1:c.209+241T>C chr17.hg19:g.5124340A>G NA A6XGL4|B4DLK1|Q96MD0 hg19 CCDS42242.1 0.02 -0.333309 AGCxAGA COVERED . . . . . . . . . . A 1.669 -0.509392 0.04231 . . ENSG00000161929 ENST00000399592 . . . 0.149 0.149 0.14863 . . . . . T 0.20129 0.0484 . . . 0.09310 N 0.999999 . . . . . . T 0.30268 -0.9984 4 0.17369 T 0.5 . . . . . . . . S 87 . ENSP00000382501:L87S L - 2 0 C17orf87 5065064 0.000000 0.05858 0.041000 0.18516 0.041000 0.13682 -0.598000 0.05706 0.166000 0.19597 0.164000 0.16699 TTG NOVEL SCIMP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256425.2 12 2.406278 KEEP 1 0 0 8 236 AA 0.99257 0.845654 0 - 3 60 98 0 1 6.95297 28 60 864 66 ENST00000574081.1 0.096774 0.851984 RABEP1 9135 __UNKNOWN__ __UNKNOWN__ 17 5253607 5253607 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:5253607A>G ENST00000546142.2 + 7 971 RABEP1_ENST00000262477.6_Intron|RABEP1_ENST00000537505.1_Intron|RABEP1_ENST00000341923.6_Intron|RABEP1_ENST00000408982.2_Intron Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 NA NA apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031) early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231) GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 cccgggaggcagagcttgcag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF098638 CCDS42243.1, CCDS45592.1 17p13.2 2008-02-05 ENSG00000029725 9135 17677 protein-coding gene gene with protein product 603616 NA 8521472 Standard NM_004703 NM_001291582 NA Approved neurocrescin, RAB5EP, RABPT5, rabaptin-5 uc002gbm.4 Q15276 ENST00000546142.2:c.785-139A>G chr17.hg19:g.5253607A>G NA B2RAG7|O95369|Q8IVX3 hg19 CCDS45592.1 0.02 -0.192924 GGCxGAG COVERED NOVEL RABEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439349.1 4 5.401075 KEEP 4 0 0 18 553 AA 0.999859 0.457692 0 + 3 41 99 0 0 7.592559 18 60 519 49 ENST00000546142.2 0.142857 0.457757 SLC13A5 284111 __UNKNOWN__ __UNKNOWN__ 17 6597709 6597709 __UNKNOWN__ Intron SNP G G A rs184394466 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:6597709G>A ENST00000433363.2 - 8 1289 SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000293800.6_Intron|SLC13A5_ENST00000573648.1_Intron NM_001284510.1|NM_177550.3 NP_001271439.1|NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 NA NA transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 aggctgaggcgggcggatcac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ489980 CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1 17p13.1 2013-05-22 ENSG00000141485 ENSG00000141485 284111 Solute carriers 23089 protein-coding gene gene with protein product 608305 NA 12445824 Standard NM_177550 NM_001284510 NA Approved NACT uc002gdj.3 Q86YT5 OTTHUMG00000102052 ENST00000433363.2:c.1056-193C>T chr17.hg19:g.6597709G>A NA B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1 hg19 CCDS11079.1 0.02 -0.13158 GGCxGGC COVERED NOVEL SLC13A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219853.2 6 2.407768 KEEP 4 0 0 8 273 GG 0.99257 0.22747 0 - 3 60 87 0 0 6.8723 12 60 400 33 ENST00000433363.2 0.2 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 6943524 6943524 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:6943524T>C NA NA SLC16A13 (84 upstream) : SLC16A11 (1424 downstream) NA NA NA cttgctctgttgcccaggctg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.6943524T>C NA hg19 0.02 -0.333211 TGTxGCC COVERED NOVEL 0 1 4.203585 KEEP 0 0 0 14 430 TT 0.995343 0.848017 0 3 60 93 0 0 6.454352 28 60 798 57 0.096774 0.851984 CLEC10A 10462 __UNKNOWN__ __UNKNOWN__ 17 6979515 6979515 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:6979515C>T ENST00000571664.1 - 6 657 CLEC10A_ENST00000576617.1_Intron|CLEC10A_ENST00000254868.4_Intron|CLEC10A_ENST00000416562.2_Intron Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A NA NA endocytosis (GO:0006897)|innate immune response (GO:0045087) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 CGCCCCCACCCACCCCCTACA 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 18 17 17 NA NA NA 17 NA NA 6979515 2202 4299 6501 SO:0001627 intron_variant D50532 CCDS11087.1, CCDS45597.1 17p13.2 2014-05-20 2005-02-09 2005-02-11 ENSG00000132514 10462 C-type lectin domain containing, CD molecules 16916 protein-coding gene gene with protein product macrophage lectin 2 (calcium dependent) 605999 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived) CLECSF13, CLECSF14 NA 8598452 Standard NM_006344 XM_005256411 NA Approved HML2, HML, CD301 uc002gej.3 Q8IUN9 ENST00000571664.1:c.353-125G>A chr17.hg19:g.6979515C>T NA A8K8J8|Q14538|Q6PIW3 hg19 CCDS45597.1 0.02 1.153557 ACCxACC COVERED NOVEL CLEC10A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000439893.2 8 9.623609 KEEP 0 0 0 32 1043 CC 0.999997 0.997895 0 - 5 60 142 0 0 8.747941 66 60 2141 141 ENST00000571664.1 0.070423 0.997898 ZBTB4 57659 __UNKNOWN__ __UNKNOWN__ 17 7385479 7385479 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:7385479A>G ENST00000311403.4 - 1 260 SLC35G6_ENST00000412468.2_Missense_Mutation_p.H59R NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 NA NA cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CCCCTTTCTCATATGGCTTAC 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 98 103 101 NA NA NA 17 NA NA 7385479 2203 4300 6503 SO:0001627 intron_variant AB040971 CCDS11107.1 17p13.2 2013-01-09 ENSG00000174282 ENSG00000174282 57659 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 23847 protein-coding gene gene with protein product 612308 NA 12477932 Standard NM_020899 NM_020899 NA Approved KIAA1538, KAISO-L1, ZNF903 uc002ghd.4 Q9P1Z0 OTTHUMG00000108137 ENST00000311403.4:c.79+1843T>C chr17.hg19:g.7385479A>G NA B3KVL6|Q7Z697|Q86XJ4|Q8N4V8 hg19 CCDS11107.1 0.02 1.833038 CTCxTAT COVERED . . . . . . . . . . G 0.010 -1.796575 0.00617 . . ENSG00000181222 ENST00000412468 T 0.16597 2.33 4.21 3.24 0.37175 . . . . . T 0.04679 0.0127 N 0.00926 -1.1 0.20703 N 0.999863 B 0.02656 0.0 B 0.01281 0.0 T 0.39683 -0.9602 9 0.02654 T 1 -1.8351 9.504 0.39035 0.181:0.0:0.819:0.0 . 59 P0C7Q6 S35G6_HUMAN R 59 ENSP00000396523:H59R ENSP00000396523:H59R H + 2 0 SLC35G6 7326203 1.000000 0.71417 0.996000 0.52242 0.106000 0.19336 3.612000 0.54142 0.373000 0.24621 -0.355000 0.07637 CAT NOVEL ZBTB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226940.2 1 10.89821 KEEP 3 2 65 59 1792 AA 1 0.967425 0 - 7 25 209 0 0 15.324041 45 60 1292 116 ENST00000311403.4 0.134615 0.967425 TP53 7157 __UNKNOWN__ __UNKNOWN__ 17 7577121 7577121 __UNKNOWN__ Missense_Mutation SNP G G A rs121913343 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:7577121G>A ENST00000269305.4 - 8 1006 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A. NA R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) Acetylsalicylic acid(DB00945) GCACAAACACGCACCTCAAAG 0.542 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 533 Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2) central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1) GRCh37 CM010471|CM010473|CM951233 TP53 M rs121913343 65 56 59 NA NA NA 17 NA NA 7577121 2203 4300 6503 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; AF307851 CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1 17p13.1 2014-09-17 2008-01-16 ENSG00000141510 ENSG00000141510 7157 11998 protein-coding gene gene with protein product Li-Fraumeni syndrome 191170 NA 6396087, 3456488, 2047879 Standard NM_000546 NM_001126115 NA Approved p53, LFS1 uc002gij.3 P04637 OTTHUMG00000162125 ENST00000269305.4:c.817C>T chr17.hg19:g.7577121G>A ENSP00000269305:p.Arg273Cys NA Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61 hg19 CCDS11118.1 0.02 1.25866 CACxCAC COVERED . . . . . . . . . . G 17.48 3.400216 0.62177 . . ENSG00000141510 ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690 D;D;D;D;D;D 0.99869 -7.34;-7.34;-7.34;-7.34;-7.34;-7.34 4.92 3.95 0.45737 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99851 0.9931 M 0.90759 3.145 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.998;0.998;0.999;0.996 D 0.96877 0.9643 10 0.87932 D 0 -11.9995 11.2235 0.48869 0.0895:0.0:0.9105:0.0 . 273;273;273;273 P04637-2;P04637-3;P04637;Q1MSW8 .;.;P53_HUMAN;. C 273;273;273;273;273;262;141 ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C ENSP00000269305:R273C R - 1 0 TP53 7517846 1.000000 0.71417 0.066000 0.19879 0.723000 0.41478 4.540000 0.60664 1.299000 0.44798 0.462000 0.41574 CGT NOVEL TP53-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367397.1 1 34.91139 KEEP 0 0 0 116 4021 GG 1 0.989542 0 - 41 60 1088 0 0 111.567782 20 60 660 193 ENST00000269305.4 0.672131 0.989542 DNAH2 146754 __UNKNOWN__ __UNKNOWN__ 17 7650054 7650054 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:7650054T>C ENST00000572933.1 + 12 3364 DNAH2_ENST00000389173.2_Intron Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) cctgtaatcctagcactttgg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U83570, AK128517 CCDS32551.1 17p13.1 2007-10-05 2006-09-04 ENSG00000183914 146754 Axonemal dyneins 2948 protein-coding gene gene with protein product 603333 dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3 DNHD3 NA 9256245 Standard NM_020877 XM_005256470 NA Approved KIAA1503, FLJ46675 uc002giu.1 Q9P225 ENST00000572933.1:c.1904+3594T>C chr17.hg19:g.7650054T>C NA A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42 hg19 CCDS32551.1 0.02 -0.114018 TCCxAGC UNCOVERED NOVEL DNAH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440241.1 5 3.008773 KEEP 5 0 0 10 301 TT 0.99254 0.161255 0 + 3 60 98 0 0 8.301299 9 60 263 39 ENST00000572933.1 0.25 0.162467 PER1 5187 __UNKNOWN__ __UNKNOWN__ 17 8052304 8052304 __UNKNOWN__ Intron SNP C C T rs181620694 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:8052304C>T ENST00000317276.4 - 8 1143 PER1_ENST00000354903.5_Intron|PER1_ENST00000581082.1_Intron NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 NA NA circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 gtcaggagttcgagaccagcc 0.587 NA T ETV6 AML, CMML Other conserved DNA damage response genes C||| 1 0.000199681 0 0.0014 5008 , , NA 16634 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA Dom yes 17 17p13.1-17p12 5187 period homolog 1 (Drosophila) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002107 CCDS11131.1 17p13.1 2012-12-13 2012-12-13 ENSG00000179094 5187 8845 protein-coding gene gene with protein product 602260 period (Drosophila) homolog 1, period homolog 1 (Drosophila) PER NA 9323128 Standard NM_002616 NA Approved RIGUI uc002gkd.3 O15534 ENST00000317276.4:c.906-200G>A chr17.hg19:g.8052304C>T NA B2RPA8|B4DI49|D3DTR3 hg19 CCDS11131.1 0.02 -0.149106 GTTxGAG COVERED NOVEL PER1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441481.2 5 6.613938 KEEP 3 0 0 22 671 CC 0.999879 0.291966 0 - 3 60 83 0 0 6.379578 13 60 409 48 ENST00000317276.4 0.1875 0.292001 TMEM107 84314 __UNKNOWN__ __UNKNOWN__ 17 8078662 8078662 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:8078662T>G ENST00000449985.2 - 1 174 TMEM107_ENST00000533070.1_Intron|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000437139.2_Intron|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000316425.5_Intron Q6UX40 TM107_HUMAN transmembrane protein 107 NA NA cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532) integral component of membrane (GO:0016021) large_intestine(1)|lung(4)|ovary(1) 6 tgggattacatgcgtgagcca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF311338 CCDS11132.1, CCDS45607.1 17p13.1 2005-12-19 ENSG00000179029 84314 28128 protein-coding gene gene with protein product NA 12477932 Standard NM_032354 NM_032354 NA Approved MGC10744 uc002gkh.4 Q6UX40 ENST00000449985.2:c.87+855A>C chr17.hg19:g.8078662T>G NA A0PJV7|Q6NSE3|Q6ZRX9|Q96T82 hg19 0.02 -0.306898 ACAxGCG COVERED NOVEL TMEM107-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388841.1 5 4.545729 KEEP 0 1 37 28 811 TT 0.999997 0.800243 0 - 3 60 107 0 0 7.767145 30 60 849 79 ENST00000449985.2 0.090909 0.800245 CTC1 80169 __UNKNOWN__ __UNKNOWN__ 17 8140888 8140888 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:8140888G>C ENST00000315684.8 - 5 655 CTC1_ENST00000581671.1_Intron NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 NA NA bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538) nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188) single-stranded DNA binding (GO:0003697) NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 gaggctgagggaggagaatca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 18 18 18 NA NA NA 17 NA NA 8140888 1885 4107 5992 SO:0001627 intron_variant AL831955 CCDS42259.1 17p13.1 2011-02-21 2011-02-21 2011-02-21 ENSG00000178971 ENSG00000178971 80169 26169 protein-coding gene gene with protein product conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1 613129 tmp494178, chromosome 17 open reading frame 68 C17orf68 NA 19854130, 19854131 Standard NM_025099 NM_025099 NA Approved FLJ22170, AAF132 uc002gkq.4 Q2NKJ3 ENST00000315684.8:c.648-51C>G chr17.hg19:g.8140888G>C NA B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0 hg19 CCDS42259.1 0.02 2.080608 AGGxAGG COVERED NOVEL CTC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000442012.1 2 11.508303 KEEP 0 2 74 64 2174 GG 1 0.984161 0 - 4 60 133 0 0 9.089057 48 60 1524 147 ENST00000315684.8 0.076923 0.984161 CCDC42 146849 __UNKNOWN__ __UNKNOWN__ 17 8638633 8638633 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:8638633A>G ENST00000293845.3 - 6 941 CCDC42_ENST00000539522.2_Intron NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 NA NA kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 gtttgtgtgtatgtgtgtgtg 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057296 CCDS11145.1, CCDS54088.1 17p13.1 2012-05-28 ENSG00000161973 ENSG00000161973 146849 26528 protein-coding gene gene with protein product NA Standard NM_144681 NM_144681 NA Approved FLJ32734, CCDC42A uc002gln.3 Q96M95 ENST00000293845.3:c.715-61T>C chr17.hg19:g.8638633A>G NA Q8N6Q0 hg19 CCDS11145.1 0.02 1.658 TGTxTGT COVERED NOVEL CCDC42-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442491.1 4 11.257512 KEEP 0 1 12 42 1164 AA 1 0.997898 0 - 4 60 136 2 0 8.855005 66 60 1769 130 ENST00000293845.3 0.057143 0.997898 STX8 9482 __UNKNOWN__ __UNKNOWN__ 17 9408207 9408207 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:9408207T>C ENST00000306357.4 - 5 876 STX8_ENST00000574431.1_Intron NM_004853.2 NP_004844.1 Q9UNK0 STX8_HUMAN syntaxin 8 NA NA endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1) 12 aggagaatcgtttgaacccgg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF115323 CCDS32565.1 17p13.1 2012-05-25 ENSG00000170310 ENSG00000170310 9482 11443 protein-coding gene gene with protein product 604203 NA 9852078, 10198254 Standard NM_004853 NM_004853 NA Approved CARB uc002glx.3 Q9UNK0 OTTHUMG00000177844 ENST00000306357.4:c.448+147A>G chr17.hg19:g.9408207T>C NA O60712|Q53XT8 hg19 CCDS32565.1 0.02 -0.148983 TCGxTTG COVERED NOVEL STX8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439206.3 2 5.71255 KEEP 1 0 0 19 530 TT 0.99986 0.29196 0 - 3 60 98 0 0 7.793061 14 60 356 40 ENST00000306357.4 0.176471 0.292001 MYH8 4626 __UNKNOWN__ __UNKNOWN__ 17 10300431 10300431 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:10300431C>T ENST00000403437.2 - 31 4273 RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal NA NA ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009) cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 gacggagtctcgctctgtcgc 0.493 NA Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Carney Complex Variant CCDS11153.1 17p13.1 2013-09-19 2006-09-29 ENSG00000133020 ENSG00000133020 4626 Myosins / Myosin superfamily : Class II 7578 protein-coding gene gene with protein product 160741 myosin, heavy polypeptide 8, skeletal muscle, perinatal NA 2373371 Standard NM_002472 NM_002472 NA Approved MyHC-peri, MyHC-pn uc002gmm.2 P13535 OTTHUMG00000130361 ENST00000403437.2:c.4179-128G>A chr17.hg19:g.10300431C>T NA Q14910 hg19 CCDS11153.1 0.02 -0.149107 TCTxGCT COVERED NOVEL MYH8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252724.2 1 4.201017 KEEP 0 0 0 14 439 CC 0.995343 0.290641 0 - 8 60 239 0 0 22.898708 8 60 248 37 ENST00000403437.2 0.5 0.292001 CTC-297N7.5 0 __UNKNOWN__ __UNKNOWN__ 17 10633653 10633653 __UNKNOWN__ RNA SNP T T C rs57533055 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:10633653T>C ENST00000583343.1 + 0 110 CTC-297N7.5_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000583115.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA NA NA NA aagaaagggctgggcgcagtg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000583343.1: chr17.hg19:g.10633653T>C NA hg19 0.02 -0.105244 GGCxGGG UNCOVERED NOVEL CTC-297N7.5-004 KNOWN basic antisense NA antisense OTTHUMT00000441072.1 0 2.407196 KEEP 0 0 0 8 249 TT 0.99257 0.138793 0 + 3 60 105 0 0 9.44403 6 60 169 37 ENST00000583343.1 0.333333 0.139832 COX10 1352 __UNKNOWN__ __UNKNOWN__ 17 14080474 14080474 __UNKNOWN__ Intron SNP A A G rs2856140 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:14080474A>G ENST00000261643.3 + 6 772 COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_Intron|SNORA74_ENST00000516496.1_RNA NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) NA NA aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495) cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TGTCTCTCACACTGCTGGGAG 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U09466 CCDS11166.1 17p12 2013-05-24 2012-10-15 ENSG00000006695 ENSG00000006695 1352 Mitochondrial respiratory chain complex assembly factors 2260 protein-coding gene gene with protein product heme A: farnesyltransferase, protoheme IX farnesyltransferase, mitochondrial, heme O synthase 602125 COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase), COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) NA 9177788, 12928484 Standard NM_001303 NM_001303 NA Approved uc002gof.4 Q12887 OTTHUMG00000058814 ENST00000261643.3:c.696-14832A>G chr17.hg19:g.14080474A>G NA B2R6U5|B4DJ50|O15334|Q969F7 hg19 CCDS11166.1 0.02 1.888766 CACxCTG COVERED NOVEL COX10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130003.1 1 19.254473 KEEP 2 0 0 64 1970 AA 1 0.981955 0 + 4 42 131 0 0 8.72304 53 60 1518 159 ENST00000261643.3 0.070175 0.981955 HS3ST3B1 9953 __UNKNOWN__ __UNKNOWN__ 17 14249368 14249368 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:14249368C>T ENST00000360954.2 + 0 2014 NM_006041.1 NP_006032.1 Q9Y662 HS3SB_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887) [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872) large_intestine(3)|lung(3)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CTGTGTACCTCGTAGGAACGC 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF105377 CCDS11167.1 17p12 2007-04-02 ENSG00000125430 ENSG00000125430 9953 2.8.2.23 Sulfotransferases, membrane-bound 5198 protein-coding gene gene with protein product 604058 NA 9988767 Standard NM_006041 NM_006041 NA Approved 3OST3B1, 30ST3B1 uc002goh.1 Q9Y662 OTTHUMG00000058810 ENST00000360954.2:c.*405C>T chr17.hg19:g.14249368C>T NA B3KN58|D3DTS6 hg19 CCDS11167.1 0.02 1.012882 CCTxGTA COVERED NOVEL HS3ST3B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000129998.1 4 21.667133 KEEP 0 0 0 72 2372 CC 1 0.999804 0 + 5 60 144 0 0 8.438808 84 60 2641 211 ENST00000360954.2 0.05618 0.999804 TRIM16 10626 __UNKNOWN__ __UNKNOWN__ 17 15531688 15531688 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:15531688T>A ENST00000578237.1 - 0 2791 TRIM16_ENST00000336708.7_3'UTR|TRIM16_ENST00000416464.2_3'UTR|TRIM16_ENST00000577886.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron O95361 TRI16_HUMAN tripartite motif containing 16 NA NA histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526) cytoplasm (GO:0005737)|PML body (GO:0016605) DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 19 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) gcgccactgctctccagcctg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF096870 CCDS11171.1 17p11.2 2011-04-20 2011-01-25 ENSG00000221926 ENSG00000221926 10626 Tripartite motif containing / Tripartite motif containing 17241 protein-coding gene gene with protein product estrogen-responsive B box protein 609505 tripartite motif-containing 16 NA 11331580 Standard NM_006470 NM_006470 NA Approved EBBP uc002gor.1 O95361 OTTHUMG00000059067 ENST00000578237.1:c.*241A>T chr17.hg19:g.15531688T>A NA Q6IAL8|Q7Z6I2|Q96BE8|Q96J43 hg19 CCDS11171.1 0.02 2.883572 TGCxCTC COVERED NOVEL TRIM16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130700.2 12 11.903215 KEEP 2 2 64 62 1911 TT 1 0.999997 0 - 6 51 177 0 0 10.515354 102 60 2948 220 ENST00000578237.1 0.055556 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 15599940 15599940 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:15599940G>A NA NA TRIM16 (12326 upstream) : ZNF286A (2950 downstream) NA NA NA AAAGAGATCAGAAAAGTAAAT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.15599940G>A NA hg19 0.02 -0.166592 TCAxAAA COVERED NOVEL 0 2 10.231647 KEEP 6 0 0 34 1137 GG 0.999998 0.353946 0 4 49 92 0 0 6.86498 15 50 469 67 0.210526 0.353947 NCOR1 9611 __UNKNOWN__ __UNKNOWN__ 17 15994888 15994888 __UNKNOWN__ Intron SNP C C T rs2078050 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:15994888C>T ENST00000268712.3 - 22 3274 NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395848.1_3'UTR NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 NA NA CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TTCAGATGAACGGAACATAAA 0.323 NA T||| 2562 0.511581 0.7564 0.5231 5008 , , NA 21259 0.2331 NA 0.5656 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044209 CCDS11175.1, CCDS54094.1, CCDS54095.1 17p11.2 2014-06-12 2010-06-10 ENSG00000141027 ENSG00000141027 9611 7672 protein-coding gene gene with protein product thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109 600849 nuclear receptor co-repressor 1 NA 7566114, 9724795 Standard NM_006311 NM_006311 NA Approved N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109 uc002gpo.3 O75376 OTTHUMG00000059309 ENST00000268712.3:c.3016+288G>A chr17.hg19:g.15994888C>T NA B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18 hg19 CCDS11175.1 0.02 -0.192994 GAAxGGA COVERED NOVEL NCOR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131751.5 2 4.5485 KEEP 0 1 31 26 883 CC 0.999988 0.457751 0 - 3 60 94 0 0 7.027014 19 60 642 70 ENST00000268712.3 0.136364 0.457757 NCOR1 9611 __UNKNOWN__ __UNKNOWN__ 17 16097825 16097825 __UNKNOWN__ Missense_Mutation SNP T T G rs73281920 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:16097825T>G ENST00000268712.3 - 2 316 c.59A>C c.(58-60)tAt>tCt p.Y20S NCOR1_ENST00000395851.1_Missense_Mutation_p.Y20S|NCOR1_ENST00000395848.1_Missense_Mutation_p.Y20S NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 20 Interaction with ZBTB33 and HEXIM1. NA Y -> S (in Ref. 2; AAO32942). {ECO:0000305}. CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212) p.Y20F(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTGAGGAGGATAACGACTTTG 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) lung(1) 215 146 169 NA NA NA 17 NA NA 16097825 2203 4300 6503 SO:0001583 missense AF044209 CCDS11175.1, CCDS54094.1, CCDS54095.1 17p11.2 2014-06-12 2010-06-10 ENSG00000141027 ENSG00000141027 9611 7672 protein-coding gene gene with protein product thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109 600849 nuclear receptor co-repressor 1 NA 7566114, 9724795 Standard NM_006311 NM_006311 NA Approved N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109 uc002gpo.3 O75376 OTTHUMG00000059309 ENST00000268712.3:c.59A>C chr17.hg19:g.16097825T>G ENSP00000268712:p.Tyr20Ser NA B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18 hg19 CCDS11175.1 0.02 1.587827 GGAxAAC COVERED . . . . . . . . . . T 12.33 1.906660 0.33628 . . ENSG00000141027 ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828;ENST00000430577 T;T;T 0.60548 0.21;0.79;0.18 5.24 4.16 0.48862 . 0.000000 0.85682 D 0.000000 T 0.72220 0.3433 M 0.69823 2.125 0.80722 D 1 D;D;D;D;P;D;P 0.89917 1.0;1.0;1.0;1.0;0.745;0.992;0.739 D;D;D;D;B;D;P 0.91635 0.999;0.999;0.997;0.999;0.265;0.988;0.453 T 0.73285 -0.4031 10 0.87932 D 0 . 9.9889 0.41858 0.0:0.08:0.0:0.92 . 20;20;20;20;20;20;20 E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2 .;.;.;.;.;NCOR1_HUMAN;. S 20 ENSP00000268712:Y20S;ENSP00000379192:Y20S;ENSP00000379189:Y20S ENSP00000268712:Y20S Y - 2 0 NCOR1 16038550 1.000000 0.71417 0.570000 0.28473 0.981000 0.71138 5.149000 0.64863 0.829000 0.34733 0.455000 0.32223 TAT NOVEL NCOR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131751.5 3 18.830212 KEEP 3 3 83 92 2715 TT 1 0.999218 0 - 5 55 165 0 0 11.0365 66 60 1827 222 ENST00000268712.3 0.070423 0.999218 RP11-219A15.1 0 __UNKNOWN__ __UNKNOWN__ 17 16609300 16609300 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:16609300A>G ENST00000448331.3 + 3 804 CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000443444.2_Intron|CCDC144A_ENST00000340621.5_Intron|CCDC144A_ENST00000360524.8_Intron|CCDC144A_ENST00000399273.1_Intron|CCDC144A_ENST00000436374.1_Intron NA NA NA aggaggctgaagcaggagaat 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000448331.3:c.664+587A>G chr17.hg19:g.16609300A>G NA hg19 0.02 1.736647 TGAxGCA COVERED NOVEL RP11-219A15.1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000445382.1 5 2.241156 KEEP 1 1 36 20 627 AA 0.999869 0.991964 0 + 5 60 148 0 0 9.761185 54 60 1600 87 ENST00000448331.3 0.084746 0.992094 FLCN 201163 __UNKNOWN__ __UNKNOWN__ 17 17128697 17128697 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:17128697A>G ENST00000285071.4 - 5 851 FLCN_ENST00000389169.5_Intron|RP11-45M22.4_ENST00000427497.3_Intron NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin NA NA cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein complex binding (GO:0032403) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 ttcgagaccaacctgggcaac 0.517 NA Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dubé syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis AF517523 CCDS32579.1, CCDS32580.1 17p11.2 2014-09-17 ENSG00000154803 ENSG00000154803 201163 27310 protein-coding gene gene with protein product 607273 NA Standard NM_144606 NM_144997 NA Approved BHD, MGC17998, MGC23445 uc002gra.4 Q8NFG4 OTTHUMG00000059275 ENST00000285071.4:c.396+792T>C chr17.hg19:g.17128697A>G NA A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4 hg19 CCDS32579.1 0.02 1.660794 CCAxCCT COVERED NOVEL FLCN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131577.1 17 8.725991 KEEP 0 0 0 29 916 AA 0.999997 0.999556 0 - 4 60 136 0 0 8.638708 75 60 2139 166 ENST00000285071.4 0.050633 0.999559 FLCN 201163 __UNKNOWN__ __UNKNOWN__ 17 17128969 17128969 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:17128969A>G ENST00000285071.4 - 5 851 FLCN_ENST00000389169.5_Intron|RP11-45M22.4_ENST00000427497.3_Intron NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin NA NA cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein complex binding (GO:0032403) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 aggttgcagtaagccgagatt 0.512 NA Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dubé syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis AF517523 CCDS32579.1, CCDS32580.1 17p11.2 2014-09-17 ENSG00000154803 ENSG00000154803 201163 27310 protein-coding gene gene with protein product 607273 NA Standard NM_144606 NM_144997 NA Approved BHD, MGC17998, MGC23445 uc002gra.4 Q8NFG4 OTTHUMG00000059275 ENST00000285071.4:c.396+520T>C chr17.hg19:g.17128969A>G NA A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4 hg19 CCDS32579.1 0.02 4.006491 AGTxAGC COVERED NOVEL FLCN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131577.1 19 26.887308 KEEP 0 1 30 100 2959 AA 1 0.999999 0 - 6 60 190 0 0 11.784754 103 60 2834 302 ENST00000285071.4 0.055046 0.999999 LRRC48 83450 __UNKNOWN__ __UNKNOWN__ 17 17914517 17914517 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:17914517C>T ENST00000399187.1 + 12 1544 LRRC48_ENST00000313838.8_Intron NM_031294.3 NP_112584.3 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 NA NA cytoplasm (GO:0005737) breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1) 7 all_neural(463;0.228) gtaatctgcccgcctcagcct 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093317 CCDS45622.1, CCDS45623.1 17p11.2 2014-07-18 ENSG00000171962 ENSG00000171962 83450 25384 protein-coding gene gene with protein product NA 11997338, 23354437 Standard NM_031294 NM_001130090 NA Approved DKFZP586M1120 uc021trk.1 Q9H069 OTTHUMG00000059355 ENST00000399187.1:c.1326+4056C>T chr17.hg19:g.17914517C>T NA A8KAE6|Q86SF9|Q86W73|Q8IWG0 hg19 CCDS45622.1 0.02 -0.105257 GCCxGCC UNCOVERED NOVEL LRRC48-001 KNOWN non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131945.3 4 2.407207 KEEP 3 0 0 8 272 CC 0 0 0 + 3 60 84 0 0 7.032103 8 60 269 30 ENST00000399187.1 0.272727 0.162467 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18037951 18037951 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:18037951T>C ENST00000205890.5 + 13 4820 NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) aatcccaacattttgggaggc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.4483-1074T>C chr17.hg19:g.18037951T>C NA B4DFC7 hg19 CCDS42271.1 0.02 -0.105235 ACAxTTT UNCOVERED NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 10 2.407441 KEEP 0 0 0 8 260 TT 0.99257 0.138793 0 + 3 60 95 0 0 8.279044 7 60 197 26 ENST00000205890.5 0.3 0.139832 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18082796 18082796 __UNKNOWN__ 3'UTR SNP C C G rs10048161 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:18082796C>G ENST00000205890.5 + 0 11543 RP11-258F1.1_ENST00000577847.1_RNA|RP11-258F1.1_ENST00000583062.1_RNA NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGATTCACTGCCTATGAACAG 0.547 NA C||| 785 0.156749 0.2239 0.1744 5008 , , NA 17387 0.0129 NA 0.2038 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.*612C>G chr17.hg19:g.18082796C>G NA B4DFC7 hg19 CCDS42271.1 0.02 -0.298248 CTGxCTA COVERED NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 1 14.142462 KEEP 0 0 0 47 1646 CC 1 0.78106 0 + 3 60 101 1 0 7.126327 31 60 1015 100 ENST00000205890.5 0.088235 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 18175126 18175126 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:18175126T>C NA NA RP1-178F10.1 (2984 upstream) : TOP3A (2154 downstream) NA NA NA ctgttaatcctagcactttgg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.18175126T>C NA hg19 0.02 3.68098 TCCxAGC COVERED NOVEL 0 39 5.731055 KEEP 1 9 318 130 4059 TT 1 0.999999 0 5 60 173 0 0 10.778887 109 60 3214 370 0.04386 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 18511909 18511909 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:18511909A>C NA NA CCDC144B (2205 upstream) : TBC1D28 (26409 downstream) NA NA NA TAGAACTTTAATGATTTTTCT 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.18511909A>C NA hg19 0.02 1.844846 TTAxTGA COVERED NOVEL 0 7 16.182733 KEEP 3 1 35 66 2123 AA 1 0.990964 0 4 27 133 0 0 8.830247 56 60 1658 185 0.066667 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 18512016 18512016 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:18512016A>G NA NA CCDC144B (2312 upstream) : TBC1D28 (26302 downstream) NA NA NA TCATCTTTGTACAAAGAGTCA 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.18512016A>G NA hg19 0.02 -0.192909 TGTxCAA COVERED NOVEL 0 0 2.640819 KEEP 3 1 35 21 597 AA 0.999869 0.457697 0 4 27 129 0 0 10.280076 18 50 489 54 0.181818 0.457757 TRIM16L 147166 __UNKNOWN__ __UNKNOWN__ 17 18638996 18638996 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:18638996G>A ENST00000449552.2 + 0 2754 TRIM16L_ENST00000395671.4_3'UTR Q309B1 TR16L_HUMAN tripartite motif containing 16-like NA NA cytoplasm (GO:0005737) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 acggagtctcgcactgttgcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant DQ232882 CCDS32588.1 17p11.2 2011-02-10 2011-01-25 ENSG00000108448 ENSG00000108448 147166 32670 protein-coding gene gene with protein product tripartite motif-containing 16-like NA Standard NM_001037330 XM_005256479 NA Approved TRIM70 uc002gui.1 Q309B1 OTTHUMG00000059050 ENST00000449552.2:c.*223G>A chr17.hg19:g.18638996G>A NA A0PK10|B2RUW6|B4DQK2|B4DWQ8 hg19 CCDS32588.1 0.02 0.836944 CTCxCAC COVERED NOVEL TRIM16L-012 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130670.3 11 22.445981 KEEP 7 1 29 85 2955 GG 1 0.999962 0 + 6 60 165 0 0 9.966212 79 60 2606 244 ENST00000449552.2 0.070588 0.999962 TRIM16L 147166 __UNKNOWN__ __UNKNOWN__ 17 18639253 18639253 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:18639253T>C ENST00000449552.2 + 0 3011 TRIM16L_ENST00000395671.4_3'UTR Q309B1 TR16L_HUMAN tripartite motif containing 16-like NA NA cytoplasm (GO:0005737) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 cgtgagccactgcgccctgcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant DQ232882 CCDS32588.1 17p11.2 2011-02-10 2011-01-25 ENSG00000108448 ENSG00000108448 147166 32670 protein-coding gene gene with protein product tripartite motif-containing 16-like NA Standard NM_001037330 XM_005256479 NA Approved TRIM70 uc002gui.1 Q309B1 OTTHUMG00000059050 ENST00000449552.2:c.*480T>C chr17.hg19:g.18639253T>C NA A0PK10|B2RUW6|B4DQK2|B4DWQ8 hg19 CCDS32588.1 0.02 3.55202 CACxGCG COVERED NOVEL TRIM16L-012 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130670.3 29 24.035846 KEEP 13 2 72 105 3247 TT 1 0.999998 0 + 7 60 226 1 0 14.749318 99 60 2948 309 ENST00000449552.2 0.066038 0.999998 TRIM16L 147166 __UNKNOWN__ __UNKNOWN__ 17 18639260 18639260 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:18639260T>G ENST00000449552.2 + 0 3018 TRIM16L_ENST00000395671.4_3'UTR Q309B1 TR16L_HUMAN tripartite motif containing 16-like NA NA cytoplasm (GO:0005737) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 cactgcgccctgccTGTTTGT 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant DQ232882 CCDS32588.1 17p11.2 2011-02-10 2011-01-25 ENSG00000108448 ENSG00000108448 147166 32670 protein-coding gene gene with protein product tripartite motif-containing 16-like NA Standard NM_001037330 XM_005256479 NA Approved TRIM70 uc002gui.1 Q309B1 OTTHUMG00000059050 ENST00000449552.2:c.*487T>G chr17.hg19:g.18639260T>G NA A0PK10|B2RUW6|B4DQK2|B4DWQ8 hg19 CCDS32588.1 0.02 3.686655 CCCxGCC COVERED NOVEL TRIM16L-012 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130670.3 31 32.3741 KEEP 17 0 0 108 3363 TT 1 0.999997 0 + 5 48 168 1 0 10.483954 99 60 2994 322 ENST00000449552.2 0.048077 0.999997 SLC47A1 55244 __UNKNOWN__ __UNKNOWN__ 17 19481364 19481364 __UNKNOWN__ 3'UTR SNP T T C rs565191543 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:19481364T>C ENST00000270570.4 + 0 2297 RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_3'UTR|SLC47A1_ENST00000395585.1_Silent_p.H566H|SLC47A1_ENST00000457293.1_Silent_p.H566H NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 NA NA organic cation transport (GO:0015695)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886) drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877) ggtgcgatcatagctcactgc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11209.1 17p11.2 2013-07-17 2013-07-17 ENSG00000142494 ENSG00000142494 55244 Solute carriers 25588 protein-coding gene gene with protein product multidrug and toxin extrusion 1 609832 NA 16330770, 16996621, 16928787 Standard NM_018242 NM_018242 NA Approved FLJ10847, MATE1 uc002gvy.1 Q96FL8 OTTHUMG00000059466 ENST00000270570.4:c.*498T>C chr17.hg19:g.19481364T>C NA Q53HF5|Q6PD77|Q86VL4|Q9NVA3 hg19 CCDS11209.1 0.02 -0.28937 TCAxAGC COVERED NOVEL SLC47A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132250.1 3 15.944533 KEEP 0 0 0 53 1574 TT 1 0.760887 0 + 3 60 103 0 0 7.367365 30 60 831 94 ENST00000270570.4 0.090909 0.760887 ALDH3A2 224 __UNKNOWN__ __UNKNOWN__ 17 19574166 19574166 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:19574166A>G ENST00000571163.1 + 3 226 ALDH3A2_ENST00000339618.4_Intron|ALDH3A2_ENST00000176643.6_Intron|ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000581518.1_Intron P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 NA NA cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) gagccaccgcacccggccCCC 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L47162 CCDS11210.1, CCDS32589.1 17p11.2 2010-05-07 ENSG00000072210 ENSG00000072210 224 1.2.1.3 Aldehyde dehydrogenases 403 protein-coding gene gene with protein product fatty aldehyde dehydrogenase 609523 SLS, ALDH10 NA 7894487 Standard NM_000382 NA Approved FALDH uc002gwa.1 P51648 OTTHUMG00000059471 ENST00000571163.1:c.227-4705A>G chr17.hg19:g.19574166A>G NA Q6I9T3|Q93011|Q96J37 hg19 0.02 -0.105251 CGCxCCC UNCOVERED NOVEL ALDH3A2-010 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000441026.2 3 2.707777 KEEP 2 0 0 9 273 AA 0.99254 0.138789 0 + 3 60 98 0 0 8.432546 8 60 237 37 ENST00000571163.1 0.272727 0.139832 MAP2K3 5606 __UNKNOWN__ __UNKNOWN__ 17 21199403 21199403 __UNKNOWN__ Intron SNP C C T rs4997718 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21199403C>T ENST00000342679.4 + 2 298 MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_Intron NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 NA NA activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) NA COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TGCAGAGAGGCTGGTCATATC 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36719 CCDS11217.1, CCDS11218.1 17q11.2 2011-06-09 ENSG00000034152 ENSG00000034152 5606 Mitogen-activated protein kinase cascade / Kinase kinases 6843 protein-coding gene gene with protein product MAPK/ERK kinase 3, MAP kinase kinase 3, dual specificity mitogen activated protein kinase kinase 3 602315 PRKMK3 NA 9465908 Standard NM_145109 NM_145109 NA Approved MEK3, MKK3, MAPKK3 uc002gys.3 P46734 OTTHUMG00000134322 ENST00000342679.4:c.50-2322C>T chr17.hg19:g.21199403C>T NA B3KSK7|Q99441|Q9UE71|Q9UE72 hg19 CCDS11217.1 0.02 1.616678 AGGxTGG COVERED . . . . . . . . . . c 9.908 1.208745 0.22205 . . ENSG00000034152 ENST00000529517 . . . 1.92 -0.367 0.12541 . . . . . T 0.34424 0.0897 . . . 0.09310 N 0.999999 . . . . . . T 0.38607 -0.9653 5 0.87932 D 0 . 2.4081 0.04418 0.2917:0.5237:0.0:0.1846 rs4997718;rs56864861;rs4997718 . . . V 84 . ENSP00000431203:A84V A + 2 0 MAP2K3 21139996 0.000000 0.05858 0.002000 0.10522 0.841000 0.47740 -0.419000 0.07071 -0.031000 0.13781 -0.349000 0.07799 GCT NOVEL MAP2K3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259374.2 1 2.651572 KEEP 0 3 94 42 1494 CC 1 0.973965 0 + 13 70 354 0 0 28.660678 41 60 1444 141 ENST00000342679.4 0.240741 0.973965 MAP2K3 5606 __UNKNOWN__ __UNKNOWN__ 17 21207834 21207834 __UNKNOWN__ Missense_Mutation SNP C C T rs58609466 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21207834C>T ENST00000342679.4 + 8 914 c.665C>T c.(664-666)aCg>aTg p.T222M MAP2K3_ENST00000316920.6_Missense_Mutation_p.T193M|MAP2K3_ENST00000361818.5_Missense_Mutation_p.T193M NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 222 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) NA COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GTGGCCAAGACGATGGATGCC 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 238 173 195 NA NA NA 17 NA NA 21207834 2203 4300 6503 SO:0001583 missense L36719 CCDS11217.1, CCDS11218.1 17q11.2 2011-06-09 ENSG00000034152 ENSG00000034152 5606 Mitogen-activated protein kinase cascade / Kinase kinases 6843 protein-coding gene gene with protein product MAPK/ERK kinase 3, MAP kinase kinase 3, dual specificity mitogen activated protein kinase kinase 3 602315 PRKMK3 NA 9465908 Standard NM_145109 NM_145109 NA Approved MEK3, MKK3, MAPKK3 uc002gys.3 P46734 OTTHUMG00000134322 ENST00000342679.4:c.665C>T chr17.hg19:g.21207834C>T ENSP00000345083:p.Thr222Met NA B3KSK7|Q99441|Q9UE71|Q9UE72 hg19 CCDS11217.1 0.02 4.280624 AGAxGAT COVERED 656 0.30036630036630035 185 0.37601626016260165 93 0.2569060773480663 167 0.291958041958042 211 0.2783641160949868 C 26.4 4.735409 0.89482 . . ENSG00000034152 ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920 T;T 0.68025 -0.3;-0.3 4.87 4.87 0.63330 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.64402 D 0.000001 T 0.00012 0.0000 M 0.79693 2.465 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.00920 -1.1514 10 0.72032 D 0.01 -22.3871 18.0327 0.89290 0.0:1.0:0.0:0.0 rs58609466 222 P46734 MP2K3_HUMAN M 222;193;193;226 ENSP00000345083:T222M;ENSP00000355081:T193M ENSP00000319139:T226M T + 2 0 MAP2K3 21148427 1.000000 0.71417 0.971000 0.41717 0.990000 0.78478 7.677000 0.84024 2.242000 0.73789 0.563000 0.77884 ACG NOVEL MAP2K3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259374.2 11 6.259399 KEEP 0 7 199 91 3182 CC 1 1 0 + 13 60 383 0 0 23.910254 178 60 5911 413 ENST00000342679.4 0.068063 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21229675 21229675 __UNKNOWN__ IGR SNP A A C rs4986023 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21229675A>C NA NA MAP2K3 (11123 upstream) : KCNJ12 (49833 downstream) NA NA NA taatcccagcactttgggagg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21229675A>C NA hg19 0.02 -0.280631 AGCxCTT COVERED NOVEL 0 10 3.310111 KEEP 1 0 0 11 348 AA 0.993072 0.734547 0 3 60 101 0 0 7.605605 21 60 623 67 0.125 0.739671 KCNJ12 3768 __UNKNOWN__ __UNKNOWN__ 17 21320350 21320350 __UNKNOWN__ 3'UTR SNP G G A rs73981226 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21320350G>A ENST00000583088.1 + 0 2591 KCNJ12_ENST00000331718.5_3'UTR NM_021012.4 NP_066292.2 Q14500 KCJ12_HUMAN potassium inwardly-rectifying channel, subfamily J, member 12 NA NA muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886) inward rectifier potassium channel activity (GO:0005242) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204)|Yohimbine(DB01392) GAGAAACACCGGGTTTCAGCT 0.468 NA Prostate(3;0.18) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L36069 CCDS11219.1 17p11.1 2011-07-05 2004-01-13 ENSG00000184185 ENSG00000184185 3768 Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying 6258 protein-coding gene gene with protein product 602323 potassium inwardly-rectifying channel, subfamily J, inhibitor 1 KCNJN1 NA 7859381, 12417321, 16382105 Standard NM_021012 NM_021012 NA Approved Kir2.2, Kir2.2v, IRK2, hIRK1 uc021tss.1 Q14500 OTTHUMG00000132039 ENST00000583088.1:c.*394G>A chr17.hg19:g.21320350G>A NA O43401|Q15756|Q8NG63 hg19 CCDS11219.1 0.02 1.236911 ACCxGGT COVERED NOVEL KCNJ12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255060.2 2 5.391867 KEEP 0 2 36 31 1024 GG 0.999998 0.999675 0 + 27 70 763 0 0 65.937622 59 60 1900 153 ENST00000583088.1 0.313953 0.999678 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21532355 21532355 __UNKNOWN__ IGR SNP C C T rs11204388 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21532355C>T NA NA AC138710.1 (51184 upstream) : UBBP4 (197245 downstream) NA NA NA gccaccatgcctggctaactt 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21532355C>T NA hg19 0.02 -0.113997 TGCxTGG UNCOVERED NOVEL 0 2 2.398036 KEEP 1 0 0 8 247 CC 0 0 0 5 60 137 0 0 13.071086 5 60 166 24 0.5 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21559090 21559090 __UNKNOWN__ IGR SNP C C G rs9674896 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21559090C>G NA NA AC138710.1 (77919 upstream) : UBBP4 (170510 downstream) NA NA NA CCAGGTGGCACCCAGGCCCTA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21559090C>G NA hg19 0.02 -0.192992 GCAxCCA COVERED NOVEL 0 0 3.009608 KEEP 0 0 0 10 344 CC 0.992708 0.486967 0 4 60 126 0 0 10.601244 12 60 406 46 0.25 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21559977 21559977 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21559977C>A NA NA AC138710.1 (78806 upstream) : UBBP4 (169623 downstream) NA NA NA GAGTTTTCACCTGGGGCCTGG 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21559977C>A NA hg19 0.02 2.783019 CACxTGG COVERED NOVEL 0 6 10.379886 KEEP 22 6 189 101 3555 CC 1 1 0 9 60 282 1 0 18.688971 109 60 3831 407 0.076271 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21560282 21560282 __UNKNOWN__ IGR SNP G G C rs75267253 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21560282G>C NA NA AC138710.1 (79111 upstream) : UBBP4 (169318 downstream) NA NA NA AGGTGGATATGAGGCCCCAGG 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21560282G>C NA hg19 0.02 -0.403471 TATxAGG COVERED NOVEL 0 2 2.915092 KEEP 3 3 98 44 1575 GG 1 0.934492 0 6 48 186 0 0 13.920381 37 60 1237 128 0.139535 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21560330 21560330 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21560330T>G NA NA AC138710.1 (79159 upstream) : UBBP4 (169270 downstream) NA NA NA GGTCCCCAGGTGAATATAAGC 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21560330T>G NA hg19 0.02 -0.420921 AGGxGAA COVERED NOVEL 0 3 2.611138 KEEP 6 3 104 45 1376 TT 1 0.948402 0 6 48 188 0 0 13.992695 39 60 1130 137 0.133333 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904093 21904093 __UNKNOWN__ IGR SNP A A G rs76302591 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904093A>G NA NA FAM27L (77594 upstream) : RP11-744K17.9 (2323 downstream) NA NA NA cacggggtccacaggaacgtc 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904093A>G NA hg19 0.02 5.426255 TCCxCAG COVERED NOVEL 0 1 5.958672 KEEP 29 4 138 68 2142 AA 1 1 0 7 48 224 0 0 12.856219 176 55 5182 413 0.038251 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904114 21904114 __UNKNOWN__ IGR SNP A A G rs75848292 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904114A>G NA NA FAM27L (77615 upstream) : RP11-744K17.9 (2302 downstream) NA NA NA tccggctgccaggagtcgcaa 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904114A>G NA hg19 0.02 7.63929 GCCxGGA COVERED NOVEL 0 2 6.963646 KEEP 15 4 143 73 2331 AA 1 1 0 10 49 325 0 0 19.979269 193 50 5864 489 0.049261 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904120 21904120 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904120C>A NA NA FAM27L (77621 upstream) : RP11-744K17.9 (2296 downstream) NA NA NA tgccaggagtcgcaaggggcc 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904120C>A NA hg19 0.02 5.637541 AGTxGCA COVERED NOVEL 0 2 12.743606 KEEP 13 3 93 75 2566 CC 1 1 0 17 49 499 0 0 32.552673 189 50 6165 497 0.082524 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904125 21904125 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904125G>A NA NA FAM27L (77626 upstream) : RP11-744K17.9 (2291 downstream) NA NA NA ggagtcgcaaggggccgagca 0.697 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904125G>A NA hg19 0.02 6.347179 CAAxGGG COVERED NOVEL 0 2 19.697579 KEEP 16 1 30 76 2793 GG 1 1 0 13 49 386 0 0 23.826485 191 50 6691 492 0.063725 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904868 21904868 __UNKNOWN__ IGR SNP A A G rs143827594 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904868A>G NA NA FAM27L (78369 upstream) : RP11-744K17.9 (1548 downstream) NA NA NA GGGAGACGGCAACAAGCCCCG 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904868A>G NA hg19 0.02 10.246964 GGCxACA COVERED NOVEL 0 8 21.096072 KEEP 4 10 313 180 5581 AA 1 1 0 41 60 1223 0 0 87.667298 297 60 8618 737 0.121302 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904896 21904896 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904896T>G NA NA FAM27L (78397 upstream) : RP11-744K17.9 (1520 downstream) NA NA NA AACGCTGGCCTCTCTGGACAA 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904896T>G NA hg19 0.02 12.911664 GCCxCTC COVERED NOVEL 0 8 45.381268 KEEP 9 4 144 201 6461 TT 1 1 0 12 49 414 0 0 23.916103 375 60 11120 890 0.031008 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904927 21904927 __UNKNOWN__ IGR SNP C C T rs138763326 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904927C>T NA NA FAM27L (78428 upstream) : RP11-744K17.9 (1489 downstream) NA NA NA TCGCACCCCTCCTCTTATGCC 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904927C>T NA hg19 0.02 8.873944 CCTxCTC COVERED NOVEL 0 8 26.834537 KEEP 54 10 304 196 6970 CC 1 1 0 14 60 420 0 0 23.41582 324 60 10924 873 0.04142 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904951 21904951 __UNKNOWN__ IGR SNP C C A rs142742665 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904951C>A NA NA FAM27L (78452 upstream) : RP11-744K17.9 (1465 downstream) NA NA NA GGCGGTGGCACGGCGCTGTAT 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904951C>A NA hg19 0.02 6.920132 GCAxGGC COVERED NOVEL 0 5 22.969569 KEEP 57 8 252 165 5416 CC 1 1 0 26 60 719 0 0 46.50506 262 60 8088 685 0.090278 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904988 21904988 __UNKNOWN__ IGR SNP G G T rs7208652 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904988G>T NA NA FAM27L (78489 upstream) : RP11-744K17.9 (1428 downstream) NA NA NA CCTCTGCTCTGTCGTCCCTCT 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904988G>T NA hg19 0.02 2.844659 TCTxTCG COVERED NOVEL 0 0 9.338328 KEEP 59 6 188 97 3375 GG 1 1 0 9 40 252 0 0 15.027036 131 45 4230 345 0.064286 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904994 21904994 __UNKNOWN__ IGR SNP C C T rs7224023 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21904994C>T NA NA FAM27L (78495 upstream) : RP11-744K17.9 (1422 downstream) NA NA NA CTCTGTCGTCCCTCTTGCTCT 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904994C>T NA hg19 0.02 3.063966 GTCxCTC COVERED NOVEL 0 0 9.602808 KEEP 59 5 157 87 2973 CC 1 0.999997 0 9 40 252 0 0 15.809457 106 40 3407 290 0.078261 0.999997 RP11-744K17.9 0 __UNKNOWN__ __UNKNOWN__ 17 21907172 21907172 __UNKNOWN__ lincRNA SNP G G C rs139425987 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:21907172G>C ENST00000581223.2 + 0 148 NR_027084.1 NA NA NA ACCTTTCCACGCCCCTTCTCT 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000581223.2: chr17.hg19:g.21907172G>C NA hg19 0.02 -0.087722 CACxCCC UNCOVERED NOVEL RP11-744K17.9-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000451067.1 6 4.514621 KEEP 28 0 0 15 520 GG 0 0 0 + 5 40 163 0 0 15.67497 5 50 163 58 ENST00000581223.2 0.5 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22252194 22252194 __UNKNOWN__ IGR SNP T T C rs6565422 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:22252194T>C NA NA RP11-285M22.1 (59254 upstream) : None (None downstream) NA NA NA ttctctgtgatgattgcattc 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.22252194T>C NA hg19 0.02 3.429341 TGAxGAT COVERED NOVEL 0 23 6.190918 KEEP 14 5 170 80 2450 TT 1 1 0 4 51 128 0 0 10.681223 13 60 383 327 0.235294 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 25267368 25267368 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:25267368G>C NA NA None (None upstream) : RP11-260A9.6 (48846 downstream) NA NA NA gaatggaatggaatgcaatgg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.25267368G>C NA hg19 0.02 -0.280702 ATGxAAT COVERED NOVEL 0 35 4.513847 KEEP 14 0 0 15 488 GG 0.993072 0.734547 0 3 23 98 0 0 9.15516 4 25 130 71 0.428571 0.739671 TMEM97 27346 __UNKNOWN__ __UNKNOWN__ 17 26654088 26654088 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:26654088C>T ENST00000226230.6 + 0 945 TMEM97_ENST00000336687.6_3'UTR NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 NA NA cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558) integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791) endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) gcctcctgggctcaagccatc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC091504 CCDS11226.2 17q11.2 2014-01-28 ENSG00000109084 ENSG00000109084 27346 28106 protein-coding gene gene with protein product 612912 NA 7694637, 15375745 Standard NM_014573 NM_014573 NA Approved MAC30 uc002hat.3 Q5BJF2 OTTHUMG00000132497 ENST00000226230.6:c.*269C>T chr17.hg19:g.26654088C>T NA B4DS02|Q07823 hg19 CCDS11226.2 0.02 1.417665 GGGxTCA COVERED NOVEL TMEM97-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255675.2 23 10.806146 KEEP 1 5 142 86 3076 CC 1 0.999768 0 + 10 60 284 0 0 20.091085 70 60 2370 218 ENST00000226230.6 0.125 0.999768 PIGS 94005 __UNKNOWN__ __UNKNOWN__ 17 26889735 26889735 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:26889735T>A ENST00000308360.7 - 5 844 PIGS_ENST00000395346.2_Intron|PIGS_ENST00000543734.1_Intron|PIGS_ENST00000465444.1_Intron NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S NA NA attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687) endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020) GPI-anchor transamidase activity (GO:0003923) breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) tacaggcatgtgccaccgcac 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11235.1 17p13.2 2013-02-26 2006-06-28 ENSG00000087111 ENSG00000087111 94005 Phosphatidylinositol glycan anchor biosynthesis 14937 protein-coding gene gene with protein product GPI transamidase subunit 610271 phosphatidylinositol glycan, class S NA Standard NM_033198 NM_033198 NA Approved uc002hbo.2 Q96S52 OTTHUMG00000132604 ENST00000308360.7:c.468+713A>T chr17.hg19:g.26889735T>A NA Q6UVX6 hg19 CCDS11235.1 0.02 -0.324295 ATGxGCC COVERED NOVEL PIGS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255833.3 5 4.142745 KEEP 0 1 32 25 715 TT 0.999957 0.83568 0 - 4 60 116 1 0 8.061731 32 60 875 76 ENST00000308360.7 0.111111 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 28619052 28619052 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:28619052C>G NA NA BLMH (40 upstream) : TMIGD1 (24298 downstream) NA NA NA ACTCCCCCCTCGCGTTGCTGA 0.776 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.28619052C>G NA hg19 0.02 -0.271885 CCTxGCG COVERED NOVEL 0 0 6.557041 KEEP 0 0 0 22 666 CC 0.999879 0.717228 0 18 60 588 0 0 58.232443 13 60 386 62 0.580645 0.717315 GOSR1 9527 __UNKNOWN__ __UNKNOWN__ 17 28832878 28832878 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:28832878A>C ENST00000451249.2 + 7 566 GOSR1_ENST00000581721.1_Intron|GOSR1_ENST00000225724.5_Intron|GOSR1_ENST00000467337.2_Intron O95249 GOSR1_HUMAN golgi SNAP receptor complex member 1 NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147) cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484) endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 12 tcctgagtagatgggactaca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF047438 CCDS11258.1, CCDS45643.1, CCDS45644.1 17q11 2011-04-15 ENSG00000108587 ENSG00000108587 9527 4430 protein-coding gene gene with protein product golgi integral membrane protein 2 604026 NA 8638159, 9653160, 15004235 Standard XM_005258072 NA Approved GOS28, P28, GS28, GOS-28, GOLIM2 uc002hfe.3 O95249 OTTHUMG00000132796 ENST00000451249.2:c.510-5020A>C chr17.hg19:g.28832878A>C NA J3KST5|O75392 hg19 CCDS45643.1 0.02 -0.043858 TAGxTGG UNCOVERED NOVEL GOSR1-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448065.1 1 2.407411 KEEP 0 0 0 8 254 AA 0.99257 0.023895 0 + 2 60 69 0 0 6.650227 2 60 59 19 ENST00000451249.2 0.5 0.024074 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 29027948 29027948 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:29027948T>G NA NA LRRC37BP1 (63466 upstream) : RN7SL316P (1577 downstream) NA NA NA tcttagtacataacaaaatgg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.29027948T>G NA hg19 0.02 -0.210406 ACAxAAC COVERED NOVEL 0 1 4.511557 KEEP 11 0 0 15 428 TT 0.994391 0.519232 0 3 40 103 0 0 7.806059 21 60 571 65 0.125 0.522161 UTP6 55813 __UNKNOWN__ __UNKNOWN__ 17 30188232 30188232 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:30188232C>A ENST00000261708.4 - 0 4077 NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) NA NA rRNA processing (GO:0006364) nucleolus (GO:0005730) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) cagcctggaccacagagcaag 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF116631 CCDS11269.1 17q11.2 2010-06-24 2006-05-16 2006-05-16 ENSG00000108651 ENSG00000108651 55813 18279 protein-coding gene gene with protein product hepatocellular carcinoma associated antigen 66 chromosome 17 open reading frame 40 C17orf40 NA 10843809, 16138909 Standard NM_018428 NM_018428 NA Approved HCA66 uc002hgr.3 Q9NYH9 OTTHUMG00000132815 ENST00000261708.4:c.*2146G>T chr17.hg19:g.30188232C>A NA Q8IX96|Q96BL2|Q9NQ91 hg19 CCDS11269.1 0.02 1.429805 GACxACA COVERED NOVEL UTP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256265.2 15 3.11309 KEEP 2 3 93 43 1444 CG 1 0.9982 0 - 4 60 121 2 1 7.960935 46 60 1465 161 ENST00000261708.4 0.08 0.9982 UTP6 55813 __UNKNOWN__ __UNKNOWN__ 17 30188307 30188307 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:30188307G>A ENST00000261708.4 - 0 4002 NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) NA NA rRNA processing (GO:0006364) nucleolus (GO:0005730) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) TGCAACAAATGAGAAACAAGA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF116631 CCDS11269.1 17q11.2 2010-06-24 2006-05-16 2006-05-16 ENSG00000108651 ENSG00000108651 55813 18279 protein-coding gene gene with protein product hepatocellular carcinoma associated antigen 66 chromosome 17 open reading frame 40 C17orf40 NA 10843809, 16138909 Standard NM_018428 NM_018428 NA Approved HCA66 uc002hgr.3 Q9NYH9 OTTHUMG00000132815 ENST00000261708.4:c.*2071C>T chr17.hg19:g.30188307G>A NA Q8IX96|Q96BL2|Q9NQ91 hg19 CCDS11269.1 0.02 1.78067 AATxAGA COVERED NOVEL UTP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256265.2 66 33.404848 KEEP 0 0 0 111 3786 GG 1 1 0 - 6 60 155 0 0 8.166289 109 60 3505 320 ENST00000261708.4 0.052174 1 UTP6 55813 __UNKNOWN__ __UNKNOWN__ 17 30202424 30202424 __UNKNOWN__ Silent SNP C C T rs371883832 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:30202424C>T ENST00000261708.4 - 14 1271 c.1134G>A c.(1132-1134)tcG>tcA p.S378S CTC-542B22.2_ENST00000583236.1_lincRNA NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 378 NA rRNA processing (GO:0006364) nucleolus (GO:0005730) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) AACACAGCAACGAAACACTCT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C 0,4406 0,0,2203 70 68 69 NA 1134 3.5 1 17 69 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous UTP6 NM_018428.2 0,1,6502 TT,TC,CC NA 0.0116,0.0,0.0077 378/598 30202424 1,13005 2203 4300 6503 SO:0001819 synonymous_variant AF116631 CCDS11269.1 17q11.2 2010-06-24 2006-05-16 2006-05-16 ENSG00000108651 ENSG00000108651 55813 18279 protein-coding gene gene with protein product hepatocellular carcinoma associated antigen 66 chromosome 17 open reading frame 40 C17orf40 NA 10843809, 16138909 Standard NM_018428 NM_018428 NA Approved HCA66 uc002hgr.3 Q9NYH9 OTTHUMG00000132815 ENST00000261708.4:c.1134G>A chr17.hg19:g.30202424C>T NA Q8IX96|Q96BL2|Q9NQ91 hg19 CCDS11269.1 0.02 1.642941 CAAxGAA COVERED NOVEL UTP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256265.2 5 17.453183 KEEP 0 0 0 58 1956 CC 1 0.963774 0 - 32 60 961 0 0 97.167024 18 60 593 150 ENST00000261708.4 0.64 0.963774 AC116407.1 0 __UNKNOWN__ __UNKNOWN__ 17 30462790 30462790 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:30462790T>C ENST00000583230.1 - 0 43 NA NA NA tggccctgtctgggcataaca 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000583230.1: chr17.hg19:g.30462790T>C NA hg19 0.02 -0.140349 GTCxGGG UNCOVERED NOVEL AC116407.1-201 NOVEL basic miRNA NA miRNA 3 2.707823 KEEP 13 0 0 9 274 TT 0 0 0 - 5 40 170 0 0 15.070219 11 60 339 50 ENST00000583230.1 0.3125 0.260965 AC116407.1 0 __UNKNOWN__ __UNKNOWN__ 17 30462791 30462791 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:30462791G>A ENST00000583230.1 - 0 42 NA NA NA ggccctgtctgggcataacag 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000583230.1: chr17.hg19:g.30462791G>A NA hg19 0.02 -0.140355 TCTxGGC UNCOVERED NOVEL AC116407.1-201 NOVEL basic miRNA NA miRNA 3 2.708779 KEEP 13 0 0 9 316 GG 0 0 0 - 5 40 150 0 0 13.06955 11 60 379 50 ENST00000583230.1 0.3125 0.260965 SLFN12L 100506736 __UNKNOWN__ __UNKNOWN__ 17 33814960 33814960 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:33814960A>G ENST00000361112.4 - 3 980 Q6IEE8 SN12L_HUMAN schlafen family member 12-like NA NA integral component of membrane (GO:0016021) ATP binding (GO:0005524) breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 gggcgcggtgactcacgcctg 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK172761 CCDS56026.1 17q12 2011-05-24 ENSG00000205045 100506736 33920 protein-coding gene gene with protein product 614956 NA 9846487 Standard XM_496206 NM_001195790 NA Approved uc021tuy.1 Q6IEE8 ENST00000361112.4:c.102-7746T>C chr17.hg19:g.33814960A>G NA F5H6G3 hg19 0.02 -0.298109 GTGxCTC COVERED NOVEL SLFN12L-005 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000399529.1 4 6.316266 KEEP 0 0 0 21 600 AA 0.999869 0.780958 0 - 3 60 100 0 0 7.02714 31 60 854 63 ENST00000361112.4 0.088235 0.78106 C17orf66 0 __UNKNOWN__ __UNKNOWN__ 17 34193921 34193921 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:34193921A>G ENST00000311880.2 - 2 237 C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_Intron NM_152781.2 NP_689994.2 A2RTY3 HEAT9_HUMAN NA NA hematopoietic progenitor cell differentiation (GO:0002244) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) agaccagcctagccaacatgg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000311880.2:c.89-144T>C chr17.hg19:g.34193921A>G NA B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46 hg19 CCDS11299.1 0.02 -0.157846 CCTxGCC COVERED NOVEL C17orf66-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256487.1 5 4.212862 KEEP 1 0 0 14 440 AA 0.995343 0.321303 0 - 3 60 85 0 0 6.580476 13 60 375 35 ENST00000311880.2 0.1875 0.322807 TBC1D3G 654341 __UNKNOWN__ __UNKNOWN__ 17 34778261 34778261 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:34778261A>G ENST00000330458.7 - 13 1238 TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|TBC1D3G_ENST00000535805.1_Intron|TBC1D3G_ENST00000535592.1_Intron Q6DHY5 TBC3G_HUMAN TBC1 domain family, member 3G NA NA plasma membrane (GO:0005886) Rab GTPase activator activity (GO:0005097) large_intestine(1) 1 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) gtgagccaccacgcctggccc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 17q12 2014-04-11 ENSG00000161583 ENSG00000260287 NA 29860 protein-coding gene gene with protein product NA 16863688 Standard NM_001040282 NA Approved Q6DHY5 OTTHUMG00000132711 ENST00000330458.7:c.1081+20755T>C chr17.hg19:g.34778261A>G NA A8K8H9 hg19 0.02 -0.324513 ACCxCGC COVERED NOVEL TBC1D3G-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 7 3.310162 KEEP 12 0 0 11 352 AA 0.99257 0.829507 0 - 3 49 104 0 0 7.509041 29 50 851 91 ENST00000330458.7 0.09375 0.835716 ZNHIT3 9326 __UNKNOWN__ __UNKNOWN__ 17 34851135 34851135 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:34851135C>A ENST00000590858.1 + 2 82 ZNHIT3_ENST00000225410.4_Missense_Mutation_p.Q119K|ZNHIT3_ENST00000490126.2_Missense_Mutation_p.Q6K|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000592616.1_Intron Q15649 ZNHI3_HUMAN zinc finger, HIT-type containing 3 NA NA regulation of transcription, DNA-templated (GO:0006355) intracellular (GO:0005622) metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) lung(1)|pancreas(1)|prostate(1) 3 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0188) CAACCTCGATCAGGGAGAAGA 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(89;112 2361 26810) NA 0 164 140 148 NA NA NA 17 NA NA 34851135 2203 4300 6503 SO:0001627 intron_variant L40410 CCDS11312.1, CCDS62156.1 17q21.1 2014-04-10 2010-09-15 2005-09-08 ENSG00000108278 ENSG00000273611 9326 Zinc fingers, HIT-type 12309 protein-coding gene gene with protein product 604500 thyroid hormone receptor interactor 3, zinc finger, HIT type 3 TRIP3 NA 7776974 Standard NM_004773 NM_004773 NA Approved uc002hms.1 Q15649 OTTHUMG00000188436 ENST00000590858.1:c.-89-2315C>A chr17.hg19:g.34851135C>A NA A8K493|K7EQP1|Q8WVJ3 hg19 0.02 0.798264 GATxAGG COVERED . . . . . . . . . . C 17.49 3.402948 0.62288 . . ENSG00000108278 ENST00000225410 . . . 6.04 6.04 0.98038 . 0.259072 0.47093 D 0.000257 T 0.62109 0.2401 M 0.74258 2.255 0.80722 D 1 D 0.56521 0.976 P 0.47206 0.541 T 0.61486 -0.7053 9 0.05959 T 0.93 -14.9813 19.143 0.93452 0.0:1.0:0.0:0.0 . 119 Q15649 ZNHI3_HUMAN K 119 . ENSP00000225410:Q119K Q + 1 0 ZNHIT3 31925248 0.998000 0.40836 1.000000 0.80357 0.788000 0.44548 1.881000 0.39638 2.873000 0.98535 0.561000 0.74099 CAG NOVEL ZNHIT3-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000450958.2 10 31.904412 KEEP 0 0 0 106 3780 CC 1 0.999218 0 + 5 60 135 0 0 7.836798 73 60 2397 267 ENST00000590858.1 0.064103 0.999218 PIGW 284098 __UNKNOWN__ __UNKNOWN__ 17 34894665 34894665 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:34894665C>T ENST00000592983.1 + 0 2295 PIGW_ENST00000328396.2_3'UTR|MYO19_ENST00000590081.1_Intron Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transferase activity, transferring acyl groups (GO:0016746) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) tgtagtggtgccatctcagct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB097818 CCDS11313.1 17q21.1 2014-05-06 2006-06-28 ENSG00000184886 ENSG00000277161 284098 Phosphatidylinositol glycan anchor biosynthesis 23213 protein-coding gene gene with protein product 610275 phosphatidylinositol glycan, class W NA 14517336, 12714589 Standard NM_178517 XM_005257238 NA Approved Gwt1, FLJ37433 uc002hmz.1 Q7Z7B1 OTTHUMG00000188438 ENST00000592983.1:c.*200C>T chr17.hg19:g.34894665C>T NA Q8N9G3 hg19 CCDS11313.1 0.02 -0.333334 GTGxCAT COVERED NOVEL PIGW-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451318.1 2 13.843808 KEEP 0 0 0 46 1559 CC 1 0.851984 0 + 3 60 94 0 0 6.349652 33 60 1075 87 ENST00000592983.1 0.083333 0.851984 AATF 26574 __UNKNOWN__ __UNKNOWN__ 17 35387154 35387154 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:35387154G>A ENST00000225402.5 + 11 1798 NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor NA NA apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254) centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634) leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) gtgagccaccgtgcctggcca 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(49;901 1159 19183 41572 46244) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF083208 CCDS32632.1 17q12 2014-05-06 ENSG00000108270 ENSG00000275700 26574 19235 protein-coding gene gene with protein product 608463 NA 11027528, 10783144 Standard NM_012138 NM_012138 NA Approved DED, CHE-1, CHE1, BFR2 uc002hni.3 Q9NY61 OTTHUMG00000188458 ENST00000225402.5:c.1548-1757G>A chr17.hg19:g.35387154G>A NA A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5 hg19 CCDS32632.1 0.02 -0.192952 ACCxTGC COVERED NOVEL AATF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451543.1 7 2.707981 KEEP 0 0 0 9 287 GG 0.99254 0.454342 0 + 3 60 87 0 0 6.461839 17 60 541 41 ENST00000225402.5 0.15 0.457757 ACACA 31 __UNKNOWN__ __UNKNOWN__ 17 35681532 35681532 __UNKNOWN__ Intron SNP G G A rs142291760 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:35681532G>A ENST00000394406.2 - 3 418 ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron NM_198836.1 NP_942133.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha NA NA acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872) NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) acttgaacccgggaggcagag 0.493 NA g||| 78 0.0155751 0.0567 0.0029 5008 , , NA 14435 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U19822 CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1 17q21 2014-05-06 2010-04-30 ENSG00000132142 ENSG00000278540 31 6.4.1.2 84 protein-coding gene gene with protein product acetyl-CoA carboxylase 1 200350 acetyl-Coenzyme A carboxylase alpha ACAC, ACC NA Standard NM_198836 NM_198837 NA Approved ACC1 uc002hno.3 Q13085 OTTHUMG00000188463 ENST00000394406.2:c.227+5580C>T chr17.hg19:g.35681532G>A NA B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3 hg19 CCDS11317.1 0.02 -0.157876 CCCxGGA UNCOVERED NOVEL ACACA-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256696.1 16 3.009414 KEEP 9 0 0 10 324 GG 0 0 0 - 3 42 84 0 0 6.572969 12 60 391 40 ENST00000394406.2 0.2 0.322807 DDX52 11056 __UNKNOWN__ __UNKNOWN__ 17 35971758 35971758 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:35971758A>G ENST00000349699.2 - 0 4426 RP11-697E22.1_ENST00000591689.1_RNA NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 NA NA membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) cagcctgggcaacagagcaag 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF077033 CCDS11323.1 17q21.1 2014-05-06 ENSG00000141141 ENSG00000278053 11056 DEAD-boxes 20038 protein-coding gene gene with protein product 612500 NA 11124703 Standard NM_152300 XM_006721650 NA Approved ROK1 uc002hoi.2 Q9Y2R4 OTTHUMG00000188475 ENST00000349699.2:c.*2583T>C chr17.hg19:g.35971758A>G NA Q86YG1|Q8N213|Q9NVE0|Q9Y482 hg19 CCDS11323.1 0.02 1.888744 GGCxACA COVERED NOVEL DDX52-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256795.1 7 2.375073 KEEP 4 2 69 32 979 AA 0.999998 0.981953 0 - 4 60 122 1 0 8.46798 36 60 1056 100 ENST00000349699.2 0.1 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 36303359 36303359 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36303359A>G NA NA TBC1D3F (8445 upstream) : TBC1D3 (34351 downstream) NA NA NA acaggcgtgaaccacgtgcct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.36303359A>G NA hg19 0.02 -0.280625 TGAxCCA COVERED NOVEL 0 4 3.002718 KEEP 1 0 0 10 291 AA 0.99254 0.734154 0 3 60 103 0 1 7.592357 25 60 719 59 0.107143 0.739671 RP11-1407O15.2 0 __UNKNOWN__ __UNKNOWN__ 17 36356075 36356075 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36356075C>T ENST00000312412.4 - 9 1095 RP11-1407O15.2_ENST00000544906.1_Intron|TBC1D3_ENST00000537432.1_Intron NA NA kidney(1)|lung(3) 4 cataccaccacgcccagctaa 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000312412.4:c.1095+1082G>A chr17.hg19:g.36356075C>T NA hg19 0.02 -0.157856 CCAxGCC COVERED NOVEL RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding NA protein_coding 7 4.512818 KEEP 0 0 0 15 469 CC 0.99649 0.321674 0 - 4 60 106 0 0 8.730826 11 60 339 37 ENST00000312412.4 0.266667 0.322807 RP11-1407O15.2 0 __UNKNOWN__ __UNKNOWN__ 17 36359423 36359423 __UNKNOWN__ Intron SNP G G A rs74929790 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36359423G>A ENST00000312412.4 - 6 648 RP11-1407O15.2_ENST00000544906.1_Intron NA NA kidney(1)|lung(3) 4 GGggccaggcgcggtggctca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000312412.4:c.649-381C>T chr17.hg19:g.36359423G>A NA hg19 0.02 1.482373 GGCxCGG COVERED NOVEL RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding NA protein_coding 9 4.147677 KEEP 0 0 0 14 431 GG 0.995343 0.979578 0 - 10 60 295 0 0 23.219456 42 60 1362 102 ENST00000312412.4 0.192308 0.984161 RP11-1407O15.2 0 __UNKNOWN__ __UNKNOWN__ 17 36376376 36376376 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36376376T>C ENST00000312412.4 - 3 340 NA NA kidney(1)|lung(3) 4 tgtgccactgtactccagcct 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000312412.4:c.341-1199A>G chr17.hg19:g.36376376T>C NA hg19 0.02 -0.210374 CTGxACT COVERED NOVEL RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding NA protein_coding 5 3.90983 KEEP 5 0 0 13 371 TT 0.993072 0.518544 0 - 3 51 103 0 0 7.865651 20 56 533 61 ENST00000312412.4 0.130435 0.522161 RP11-1407O15.2 0 __UNKNOWN__ __UNKNOWN__ 17 36378342 36378342 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36378342G>T ENST00000312412.4 - 3 340 NA NA kidney(1)|lung(3) 4 ctcttgcctggaatcccagca 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000312412.4:c.341-3165C>A chr17.hg19:g.36378342G>T NA hg19 0.02 -0.341774 CTGxAAT COVERED NOVEL RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding NA protein_coding 8 3.912648 KEEP 1 0 0 13 455 GG 0.994391 0.860889 0 - 4 59 114 0 0 8.07832 28 60 909 73 ENST00000312412.4 0.125 0.865745 RP11-1407O15.2 0 __UNKNOWN__ __UNKNOWN__ 17 36378882 36378882 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36378882A>G ENST00000312412.4 - 3 340 NA NA kidney(1)|lung(3) 4 agcctcccaaatagctgggac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000312412.4:c.341-3705T>C chr17.hg19:g.36378882A>G NA hg19 0.02 -0.245541 CAAxTAG COVERED NOVEL RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding NA protein_coding 14 3.009433 KEEP 7 0 0 10 328 AA 0.99257 0.636582 0 - 3 27 93 0 0 6.644545 24 60 693 55 ENST00000312412.4 0.111111 0.641347 RP11-1407O15.2 0 __UNKNOWN__ __UNKNOWN__ 17 36385070 36385070 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36385070C>T ENST00000312412.4 - 3 340 NA NA kidney(1)|lung(3) 4 TACCTGCTTACTATGTTCAAA 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000312412.4:c.341-9893G>A chr17.hg19:g.36385070C>T NA hg19 0.02 -0.412246 TTAxTAT COVERED NOVEL RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding NA protein_coding 1 3.310842 KEEP 0 0 0 11 397 CC 0.993072 0.935217 0 - 9 60 257 0 0 20.029438 38 60 1254 63 ENST00000312412.4 0.191489 0.941741 RP11-1407O15.2 0 __UNKNOWN__ __UNKNOWN__ 17 36385925 36385925 __UNKNOWN__ Intron SNP C C G rs62074845 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36385925C>G ENST00000312412.4 - 3 340 NA NA kidney(1)|lung(3) 4 aggcagatcacctgaggacag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000312412.4:c.341-10748G>C chr17.hg19:g.36385925C>G NA hg19 0.02 2.005812 TCAxCTG COVERED NOVEL RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding NA protein_coding 8 2.708855 KEEP 0 0 0 9 323 CC 0.99254 0.969578 0 - 12 60 416 0 0 34.904738 42 60 1368 89 ENST00000312412.4 0.222222 0.976865 RP11-1407O15.2 0 __UNKNOWN__ __UNKNOWN__ 17 36385946 36385946 __UNKNOWN__ Intron SNP C C T rs28868871 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36385946C>T ENST00000312412.4 - 3 340 NA NA kidney(1)|lung(3) 4 gagttcaagaccagcctggcc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000312412.4:c.341-10769G>A chr17.hg19:g.36385946C>T NA hg19 0.02 -0.438545 AGAxCAG COVERED NOVEL RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding NA protein_coding 5 2.407914 KEEP 0 0 0 8 287 CC 0.99257 0.952727 0 - 10 60 301 0 0 24.206148 38 60 1242 78 ENST00000312412.4 0.208333 0.959859 RP11-1407O15.2 0 __UNKNOWN__ __UNKNOWN__ 17 36387264 36387264 __UNKNOWN__ Intron SNP C C T rs200953932 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36387264C>T ENST00000312412.4 - 2 340 NA NA kidney(1)|lung(3) 4 gaggccaaggcgaaccgatca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000312412.4:c.340+10953G>A chr17.hg19:g.36387264C>T NA hg19 0.02 -0.131572 AGGxGAA UNCOVERED NOVEL RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding NA protein_coding 5 2.407746 KEEP 15 0 0 8 288 CC 0 0 0 - 3 49 93 0 0 7.572779 11 50 364 58 ENST00000312412.4 0.214286 0.229173 SOCS7 30837 __UNKNOWN__ __UNKNOWN__ 17 36511805 36511805 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36511805C>T ENST00000331159.5 + 1 805 SOCS7_ENST00000577233.1_Intron O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 NA NA fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) SH3 domain binding (GO:0017124) central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5) 9 Breast(7;3.47e-17) cttgctctgtcgcccaggctg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB005216 CCDS32637.1 17q12 2014-08-12 ENSG00000274211 ENSG00000274211 30837 Suppressors of cytokine signaling, SH2 domain containing 29846 protein-coding gene gene with protein product Nck, Ash and phospholipase C binding protein, NCK-associated protein 4 608788 NA 9344857, 12076535 Standard XM_371052 XM_005257264 NA Approved NAP4, NCKAP4 uc002hqa.3 O14512 OTTHUMG00000188546 ENST00000331159.5:c.788+2890C>T chr17.hg19:g.36511805C>T NA A2VCU2|Q0IJ63 hg19 0.02 -0.070172 TGTxGCC UNCOVERED NOVEL SOCS7-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000441677.1 1 2.407534 KEEP 0 0 0 8 267 CC 0.99257 0.053735 0 + 3 60 89 0 0 8.03245 5 60 162 22 ENST00000331159.5 0.375 0.054137 ARHGAP23 57636 __UNKNOWN__ __UNKNOWN__ 17 36642507 36642507 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36642507T>C ENST00000431231.2 + 17 3054 ARHGAP23_ENST00000443378.1_Intron|ARHGAP23_ENST00000437668.3_Intron NM_001199417.1 NP_001186346.1 Q9P227 RHG23_HUMAN Rho GTPase activating protein 23 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) GTPase activator activity (GO:0005096) breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2) 20 cttgctctgttgcccaggctg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040934 CCDS56027.1 17q12 2014-05-06 ENSG00000225485 ENSG00000275832 57636 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 29293 protein-coding gene gene with protein product 610590 NA 10819331, 15254754 Standard XM_290799 NM_001199417 NA Approved KIAA1501 uc021twd.1 Q9P227 OTTHUMG00000188547 ENST00000431231.2:c.2986+126T>C chr17.hg19:g.36642507T>C NA hg19 CCDS56027.1 0.02 -0.359595 TGTxGCC COVERED NOVEL ARHGAP23-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000441789.1 2 6.919247 KEEP 2 0 0 23 700 TT 0.999892 0.888779 0 + 3 50 98 1 0 6.712263 34 60 1013 79 ENST00000431231.2 0.081081 0.888875 MLLT6 4302 __UNKNOWN__ __UNKNOWN__ 17 36883807 36883807 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:36883807A>G ENST00000325718.7 + 0 5329 NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 NA NA regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) tgtaatcccaacactttggga 0.512 NA T MLL AL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q21 4302 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11327.1 17q21 2014-04-10 2001-11-28 ENSG00000108292 ENSG00000275023 4302 Zinc fingers, PHD-type 7138 protein-coding gene gene with protein product Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6, trithorax homolog 600328 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6 NA 8058765 Standard NM_005937 NM_005937 NA Approved AF17, FLJ23480 uc002hqi.4 P55198 OTTHUMG00000188498 ENST00000325718.7:c.*1956A>G chr17.hg19:g.36883807A>G NA Q59F28|Q96IU3|Q9H5F6|Q9UF49 hg19 CCDS11327.1 0.02 -0.39461 CCAxCAC COVERED NOVEL MLLT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256799.1 9 5.250023 KEEP 0 1 36 30 910 AA 0.999997 0.926637 0 + 5 60 156 0 0 11.504018 34 60 962 97 ENST00000325718.7 0.128205 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 37311620 37311620 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:37311620G>A NA NA PLXDC1 (2135 upstream) : ARL5C (1526 downstream) NA NA NA gcggtggctcgcgcctgtaat 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.37311620G>A NA hg19 0.02 -0.131584 CTCxCGC COVERED NOVEL 0 5 2.407793 KEEP 2 0 0 8 281 GG 0.99257 0.22747 0 3 60 90 0 0 7.272726 11 60 375 38 0.214286 0.229173 STAC2 342667 __UNKNOWN__ __UNKNOWN__ 17 37367616 37367616 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:37367616A>C ENST00000333461.5 - 0 2534 NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 NA NA intracellular signal transduction (GO:0035556) metal ion binding (GO:0046872) NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 cggctcactgaaacctccgcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ608762 CCDS11335.1 17q21.2 2012-11-19 ENSG00000141750 ENSG00000141750 342667 23990 protein-coding gene gene with protein product NA Standard NM_198993 NM_198993 NA Approved 24b2 uc002hrs.3 Q6ZMT1 OTTHUMG00000179039 ENST00000333461.5:c.*929T>G chr17.hg19:g.37367616A>C NA Q32MA3 hg19 CCDS11335.1 0.02 -0.175318 CTGxAAC COVERED NOVEL STAC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444533.2 4 2.699584 KEEP 1 0 0 9 243 AA 0.99257 0.384528 0 - 4 60 131 0 0 10.763995 15 70 383 30 ENST00000333461.5 0.210526 0.387407 MED1 5469 __UNKNOWN__ __UNKNOWN__ 17 37571143 37571143 __UNKNOWN__ Intron SNP A A G rs191978297 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:37571143A>G ENST00000394287.3 - 16 1705 MED1_ENST00000300651.6_Intron O95243 MBD4_HUMAN mediator complex subunit 1 NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314) chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696) NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) gaatggtctcaatcttctgac 0.517 NA HNSCC(31;0.082) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(21;279 768 2492 4877 24026) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40366 CCDS11336.1 17q12 2007-07-30 2007-07-30 2007-07-30 ENSG00000125686 ENSG00000125686 5469 9234 protein-coding gene gene with protein product 604311 PPAR binding protein TRIP2, PPARGBP, PPARBP NA 9325263, 10485914 Standard NM_004774 NM_004774 NA Approved PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1 uc002hrv.4 Q15648 OTTHUMG00000133216 ENST00000394287.3:c.1499+135T>C chr17.hg19:g.37571143A>G NA B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09 hg19 0.02 -0.2017 CTCxATC COVERED NOVEL MED1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000256944.1 2 3.911755 KEEP 0 0 0 13 407 AA 0.994391 0.487793 0 - 3 60 91 0 0 6.727985 19 60 557 41 ENST00000394287.3 0.136364 0.490544 ERBB2 2064 __UNKNOWN__ __UNKNOWN__ 17 37855679 37855679 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:37855679T>A ENST00000584601.1 + 5 729 ERBB2_ENST00000578199.1_Intron|ERBB2_ENST00000406381.2_Intron P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 NA NA axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072) gcgccattgctctccagcctg 0.493 1 A, Mis, O breast, ovarian, other tumour types, NSCLC, gastric TCGA GBM(5;<1E-08) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q21.1 2064 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X03363 CCDS32642.1, CCDS45667.1, CCDS74052.1 17q11.2-q12 2014-09-17 2013-07-09 ENSG00000141736 2064 CD molecules 3430 protein-coding gene gene with protein product neuro/glioblastoma derived oncogene homolog 164870 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) NGL NA Standard XM_005257140 NA Approved NEU, HER-2, CD340, HER2 uc002hso.3 P04626 ENST00000584601.1:c.-68-111T>A chr17.hg19:g.37855679T>A NA B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5 hg19 CCDS45667.1 0.02 1.441425 TGCxCTC COVERED NOVEL ERBB2-001 PUTATIVE basic|CCDS protein_coding NA protein_coding OTTHUMT00000445614.1 5 8.424415 KEEP 0 0 0 28 851 TT 0.999997 0.998462 0 + 5 60 159 0 0 10.567833 62 60 1742 138 ENST00000584601.1 0.074627 0.998465 ERBB2 2064 __UNKNOWN__ __UNKNOWN__ 17 37863316 37863316 __UNKNOWN__ Silent SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:37863316C>T ENST00000584450.1 + 2 362 c.147C>T c.(145-147)ctC>ctT p.L49L ERBB2_ENST00000578199.1_Silent_p.L19L|ERBB2_ENST00000269571.5_Silent_p.L49L|ERBB2_ENST00000541774.1_Silent_p.L34L|ERBB2_ENST00000540042.1_Silent_p.L19L|ERBB2_ENST00000584601.1_Silent_p.L19L|ERBB2_ENST00000406381.2_Silent_p.L19L|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540147.1_Silent_p.L19L P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 49 NA axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072) TCCGCCACCTCTACCAGGGCT 0.642 1 A, Mis, O breast, ovarian, other tumour types, NSCLC, gastric TCGA GBM(5;<1E-08) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q21.1 2064 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) E 0 43 38 39 NA NA NA 17 NA NA 37863316 2203 4300 6503 SO:0001819 synonymous_variant X03363 CCDS32642.1, CCDS45667.1, CCDS74052.1 17q11.2-q12 2014-09-17 2013-07-09 ENSG00000141736 2064 CD molecules 3430 protein-coding gene gene with protein product neuro/glioblastoma derived oncogene homolog 164870 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) NGL NA Standard XM_005257140 NA Approved NEU, HER-2, CD340, HER2 uc002hso.3 P04626 ENST00000584450.1:c.147C>T chr17.hg19:g.37863316C>T NA B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5 hg19 0.02 6.52199 CCTxTAC COVERED NOVEL ERBB2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000445618.1 2 27.075038 KEEP 0 0 0 90 3195 CC 1 1 0 + 86 60 2501 0 0 227.164427 134 60 4637 409 ENST00000584450.1 0.390909 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 38115693 38115693 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:38115693A>C NA NA LRRC3C (14693 upstream) : GSDMA (3532 downstream) NA NA NA cagtggctcaagcctgtaatc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.38115693A>C NA hg19 0.02 -0.131567 TCAxGCC COVERED NOVEL 0 4 2.407029 KEEP 1 0 0 8 247 AA 0.99257 0.22747 0 4 60 135 0 0 11.77146 10 60 298 32 0.285714 0.229173 WIPF2 147179 __UNKNOWN__ __UNKNOWN__ 17 38375679 38375679 __UNKNOWN__ 5'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:38375679G>A ENST00000323571.4 + 0 106 WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_5'UTR|WIPF2_ENST00000585043.1_5'UTR|WIPF2_ENST00000394103.3_5'UTR NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) cytoskeleton (GO:0005856)|cytosol (GO:0005829) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 GCCGGGGGGCGAGCAGGACAG 0.721 NA HNSCC(43;0.11) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC025965 CCDS11364.1 17q21.2 2006-10-12 ENSG00000171475 ENSG00000171475 147179 30923 protein-coding gene gene with protein product 609692 NA 12213210, 11829459 Standard NM_133264 XM_005257083 NA Approved WICH, WIRE uc002hug.1 Q8TF74 OTTHUMG00000133331 ENST00000323571.4:c.-135G>A chr17.hg19:g.38375679G>A NA A8K0L3|Q658J8|Q71RE1|Q8TE44 hg19 CCDS11364.1 0.02 1.110353 GGCxAGC COVERED NOVEL WIPF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257157.2 0 11.733452 KEEP 0 0 0 39 1280 GG 1 0.995083 0 + 20 60 503 0 0 42.251931 46 60 1460 154 ENST00000323571.4 0.30303 0.995084 WIPF2 147179 __UNKNOWN__ __UNKNOWN__ 17 38436710 38436710 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:38436710A>G ENST00000323571.4 + 0 3796 NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) cytoskeleton (GO:0005856)|cytosol (GO:0005829) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 gacagagtgaaactccatctc 0.527 NA HNSCC(43;0.11) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025965 CCDS11364.1 17q21.2 2006-10-12 ENSG00000171475 ENSG00000171475 147179 30923 protein-coding gene gene with protein product 609692 NA 12213210, 11829459 Standard NM_133264 XM_005257083 NA Approved WICH, WIRE uc002hug.1 Q8TF74 OTTHUMG00000133331 ENST00000323571.4:c.*2233A>G chr17.hg19:g.38436710A>G NA A8K0L3|Q658J8|Q71RE1|Q8TE44 hg19 CCDS11364.1 0.02 -0.219281 TGAxACT COVERED NOVEL WIPF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257157.2 4 3.610724 KEEP 0 0 0 12 374 AA 0.993634 0.579219 0 + 3 60 102 0 0 7.960813 17 60 508 49 ENST00000323571.4 0.15 0.58293 WIPF2 147179 __UNKNOWN__ __UNKNOWN__ 17 38439779 38439779 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:38439779A>G ENST00000323571.4 + 0 6865 NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) cytoskeleton (GO:0005856)|cytosol (GO:0005829) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 gattacaggcatgagccaccg 0.512 NA HNSCC(43;0.11) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025965 CCDS11364.1 17q21.2 2006-10-12 ENSG00000171475 ENSG00000171475 147179 30923 protein-coding gene gene with protein product 609692 NA 12213210, 11829459 Standard NM_133264 XM_005257083 NA Approved WICH, WIRE uc002hug.1 Q8TF74 OTTHUMG00000133331 ENST00000323571.4:c.*5302A>G chr17.hg19:g.38439779A>G NA A8K0L3|Q658J8|Q71RE1|Q8TE44 hg19 CCDS11364.1 0.02 1.935731 GGCxTGA COVERED NOVEL WIPF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257157.2 4 2.480235 KEEP 0 3 67 32 980 AA 0.999999 0.992092 0 + 5 60 158 0 0 10.915415 50 60 1463 132 ENST00000323571.4 0.090909 0.992094 TOP2A 7153 __UNKNOWN__ __UNKNOWN__ 17 38566223 38566223 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:38566223T>C ENST00000423485.1 - 10 1362 NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa NA NA apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819) condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) gcctgtaatctcagctactcg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45672.1 17q21-q22 2008-08-06 2002-08-29 ENSG00000131747 ENSG00000131747 7153 5.99.1.2 11989 protein-coding gene gene with protein product 126430 topoisomerase (DNA) II alpha (170kD) TOP2 NA Standard NM_001067 NA Approved uc002huq.3 P11388 OTTHUMG00000155008 ENST00000423485.1:c.1203+1137A>G chr17.hg19:g.38566223T>C NA B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9 hg19 CCDS45672.1 0.02 -0.236795 ATCxCAG COVERED . . . . . . . . . . T 3.835 -0.035030 0.07543 . . ENSG00000131747 ENST00000269577 . . . 0.235 0.235 0.15431 . . . . . T 0.39655 0.1086 . . . 0.09310 N 0.999998 . . . . . . T 0.39143 -0.9628 4 0.87932 D 0 . . . . . . . . G 385 . ENSP00000269577:E385G E - 2 0 TOP2A 35819749 0.016000 0.18221 0.153000 0.22517 0.155000 0.21991 -0.269000 0.08596 0.263000 0.21812 0.260000 0.18958 GAG NOVEL TOP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338035.1 2 5.716295 KEEP 0 0 0 19 571 TT 0.99986 0.612321 0 - 5 60 150 1 0 11.769217 22 60 644 47 ENST00000423485.1 0.185185 0.612407 KRT23 25984 __UNKNOWN__ __UNKNOWN__ 17 39087541 39087541 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:39087541T>C ENST00000209718.3 - 3 904 AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) NA NA intermediate filament (GO:0005882) structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) ggattacaggtgtgagccacc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF102848 CCDS11380.1, CCDS62182.1 17q21.2 2013-01-16 ENSG00000108244 ENSG00000108244 25984 -, Intermediate filaments type I, keratins (acidic) 6438 protein-coding gene gene with protein product 606194 NA 11135429, 16831889 Standard NM_015515 NA Approved K23, DKFZP434G032, HAIK1, CK23, MGC26158 uc002hvm.1 Q9C075 OTTHUMG00000133376 ENST00000209718.3:c.479+83A>G chr17.hg19:g.39087541T>C NA A8K084|B7Z7J2|I3L3Q6|Q9NUR6 hg19 CCDS11380.1 0.02 -0.359444 AGGxGTG COVERED NOVEL KRT23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257223.1 2 7.218737 KEEP 1 0 0 24 688 TT 0.999909 0.899232 0 - 3 60 103 0 1 7.140719 36 60 971 83 ENST00000209718.3 0.076923 0.899314 KRTAP9-4 85280 __UNKNOWN__ __UNKNOWN__ 17 39406299 39406299 __UNKNOWN__ Silent SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:39406299A>G ENST00000334109.2 + 1 361 c.327A>G c.(325-327)acA>acG p.T109T NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 109 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. NA keratin filament (GO:0045095) breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) ACTACCCCACAACTGTCTGCC 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 215 202 206 NA NA NA 17 NA NA 39406299 2203 4300 6503 SO:0001819 synonymous_variant AJ406948 CCDS11386.1 17q21.2 2013-06-25 ENSG00000241595 ENSG00000241595 85280 Keratin associated proteins 18902 protein-coding gene gene with protein product NA 11279113 Standard NM_033191 NA Approved KAP9.4 uc002hwi.3 Q9BYQ2 OTTHUMG00000133438 ENST00000334109.2:c.327A>G chr17.hg19:g.39406299A>G NA Q0VAE3 hg19 CCDS11386.1 0.02 1.260957 CACxACT COVERED NOVEL KRTAP9-4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257306.1 1 8.813093 KEEP 1 4 104 66 2017 AA 1 0.997553 0 + 6 60 172 0 0 11.105891 66 60 1851 163 ENST00000334109.2 0.083333 0.997553 KRTAP9-9 81870 __UNKNOWN__ __UNKNOWN__ 17 39411939 39411939 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:39411939G>A ENST00000394008.1 + 1 304 c.302G>A c.(301-303)gGc>gAc p.G101D NM_030975.2 NP_112237.2 Q9BYP9 KRA99_HUMAN keratin associated protein 9-9 86 14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL]. NA keratin filament (GO:0045095) endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TCCAGCTGTGGCCAGAGCAGC 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 77 82 80 NA NA NA 17 NA NA 39411939 2203 4297 6500 SO:0001583 missense AJ406951 CCDS54127.1 17q21.2 2010-06-03 ENSG00000198083 ENSG00000198083 81870 Keratin associated proteins 16773 protein-coding gene gene with protein product keratin associated protein 9-5 KRTAP9-5 NA 11279113 Standard NM_030975 NM_030975 NA Approved KAP9.9, KAP9.5 uc021txh.1 Q9BYP9 OTTHUMG00000133602 ENST00000394008.1:c.302G>A chr17.hg19:g.39411939G>A ENSP00000377576:p.Gly101Asp NA B5MDD6|Q9BYQ1 hg19 CCDS54127.1 0.02 -0.263088 GTGxCCA COVERED . . . . . . . . . . . 12.66 2.004202 0.35320 . . ENSG00000198083 ENST00000431129;ENST00000394008 T 0.01369 4.97 3.31 3.31 0.37934 . . . . . T 0.01627 0.0052 L 0.34521 1.04 0.28624 N 0.908012 B 0.33413 0.411 B 0.31547 0.132 T 0.37731 -0.9693 9 0.72032 D 0.01 . 10.421 0.44350 0.0:0.0:1.0:0.0 . 86 Q9BYP9 KRA99_HUMAN D 107;101 ENSP00000377576:G101D ENSP00000377576:G101D G + 2 0 KRTAP9-9 36665465 0.946000 0.32159 0.137000 0.22149 0.001000 0.01503 1.050000 0.30404 2.173000 0.68751 0.556000 0.70494 GGC NOVEL KRTAP9-9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257710.1 3 9.024996 KEEP 2 0 0 30 1007 GG 0.999997 0.693666 0 + 19 60 532 0 0 53.691959 11 60 362 72 ENST00000394008.1 0.633333 0.693668 EIF1 10209 __UNKNOWN__ __UNKNOWN__ 17 39848126 39848126 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:39848126G>A ENST00000469257.1 + 0 1536 JUP_ENST00000540235.1_Intron P41567 EIF1_HUMAN eukaryotic translation initiation factor 1 NA NA dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950) cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1) 5 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) gcacaatctcggctcactgca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(176;1692 2837 16734 17588) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF083441 CCDS11403.1 17q21.2 2006-02-02 ENSG00000173812 ENSG00000173812 10209 3249 protein-coding gene gene with protein product NA 7904817, 10347211 Standard NM_005801 NM_005801 NA Approved EIF-1, ISO1, A121, SUI1, EIF1A uc002hxj.3 P41567 OTTHUMG00000133492 ENST00000469257.1:c.*1048G>A chr17.hg19:g.39848126G>A NA Q9UNQ9 hg19 CCDS11403.1 0.02 -0.271924 CTCxGCT COVERED NOVEL EIF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257390.1 1 6.320411 KEEP 1 0 0 21 733 GG 0.999869 0.717222 0 + 3 44 92 0 0 6.44488 26 60 848 62 ENST00000469257.1 0.103448 0.717315 TTC25 83538 __UNKNOWN__ __UNKNOWN__ 17 40105560 40105560 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:40105560T>C ENST00000591658.1 + 0 1213 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 NA NA cytoplasm (GO:0005737) endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) ggtgaggtggttcacgcctgt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK055498 CCDS74063.1 17q21.2 2014-08-12 ENSG00000204815 ENSG00000204815 83538 Tetratricopeptide (TTC) repeat domain containing 25280 protein-coding gene gene with protein product NA Standard NM_031421 XM_006722129 NA Approved DKFZP434H0115 uc002hyj.4 Q96NG3 OTTHUMG00000175837 ENST00000591658.1: chr17.hg19:g.40105560T>C NA Q6NX40|Q6PJ04|Q9H0K5 hg19 0.02 -0.219267 TGGxTCA COVERED NOVEL TTC25-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000449237.1 6 2.242466 KEEP 0 1 36 20 646 TT 0.999869 0.552815 0 + 3 60 97 0 0 7.392468 18 60 535 55 ENST00000591658.1 0.142857 0.552887 KCNH4 23415 __UNKNOWN__ __UNKNOWN__ 17 40314182 40314182 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:40314182C>T ENST00000264661.3 - 15 2991 KCNH4_ENST00000607371.1_Intron NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 NA NA potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) caggctggtcccaaactcctg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(117;707 1703 2300 21308 31858) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB022698 CCDS11420.1 17q21 2012-07-05 ENSG00000089558 23415 Potassium channels, Voltage-gated ion channels / Potassium channels 6253 protein-coding gene gene with protein product 604528 NA 10455180, 16382104 Standard NM_012285 NM_012285 NA Approved Kv12.3, elk1 uc002hzb.2 Q9UQ05 ENST00000264661.3:c.2658+83G>A chr17.hg19:g.40314182C>T NA hg19 CCDS11420.1 0.02 1.379695 GTCxCAA COVERED NOVEL KCNH4-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449791.2 8 2.879491 KEEP 1 2 67 33 1125 CC 0.999999 0.999316 0 - 5 60 154 0 0 9.785656 71 60 2375 158 ENST00000264661.3 0.065789 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 40347604 40347604 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:40347604T>C NA NA GHDC (1092 upstream) : STAT5B (3581 downstream) NA NA NA ggattacaggtgtgagccacc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.40347604T>C NA hg19 0.02 -0.131535 AGGxGTG COVERED NOVEL 0 3 3.611147 KEEP 0 0 0 12 382 TT 0.993634 0.227714 0 3 60 100 0 0 8.779307 7 60 188 37 0.3 0.229173 LINC00671 388387 __UNKNOWN__ __UNKNOWN__ 17 41036619 41036619 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:41036619T>C ENST00000301683.3 - 0 373 long intergenic non-protein coding RNA 671 NA NA NA cacctataattccagcacttt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AK055784, BC122868, DC361857 17q21.31 2012-10-12 ENSG00000213373 ENSG00000213373 388387 Long non-coding RNAs 44339 non-coding RNA RNA, long non-coding NA Standard NR_027254 NR_027254 NA Approved uc010whe.1 OTTHUMG00000132654 ENST00000301683.3: chr17.hg19:g.41036619T>C NA hg19 0.02 1.467621 AATxCCA COVERED NOVEL LINC00671-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000255905.2 27 2.374782 KEEP 0 2 63 30 933 TT 0.999997 0.99755 0 - 5 60 163 0 0 11.034855 60 60 1754 142 ENST00000301683.3 0.076923 0.997553 ETV4 2118 __UNKNOWN__ __UNKNOWN__ 17 41610623 41610623 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:41610623T>A ENST00000545089.1 - 6 479 ETV4_ENST00000545954.1_Missense_Mutation_p.Q120H|ETV4_ENST00000538265.1_Missense_Mutation_p.Q120H|ETV4_ENST00000393664.2_Missense_Mutation_p.Q159H|ETV4_ENST00000591713.1_Missense_Mutation_p.Q159H|ETV4_ENST00000319349.5_Missense_Mutation_p.Q159H P43268 ETV4_HUMAN ets variant 4 NA NA branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366) nucleolus (GO:0005730) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) GGAAATTCCGTTGCTCTGCCC 0.617 NA T EWSR1, TMPRSS2, DDX5, KLK2, CANT1 Ewing sarcoma, Prostate carcinoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(116;1540 1611 12927 31103 34118) Dom yes 17 17q21 2118 ets variant gene 4 (E1A enhancer binding protein, E1AF) M, E 0 61 63 62 NA NA NA 17 NA NA 41610623 2203 4300 6503 SO:0001627 intron_variant U18018 CCDS11465.1, CCDS58553.1, CCDS59292.1 17q21 2014-04-30 2008-09-12 ENSG00000175832 2118 3493 protein-coding gene gene with protein product E1A enhancer binding protein 600711 ets variant gene 4 (E1A enhancer-binding protein, E1AF) NA 8530053, 1547944 Standard NM_001986 NM_001986 NA Approved E1A-F, E1AF, PEA3 uc002idw.3 P43268 ENST00000545089.1:c.384-316A>T chr17.hg19:g.41610623T>A NA A8K314|B7Z5J3|B7Z9J6|Q96AW9 hg19 0.02 1.240098 CCGxTGC COVERED . . . . . . . . . . T 16.91 3.254053 0.59212 . . ENSG00000175832 ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954 T;T;T;T 0.24350 1.86;1.86;1.86;1.86 4.87 -1.85 0.07784 PEA3-type ETS-domain transcription factor, N-terminal (1); 2.441200 0.01413 N 0.014060 T 0.29491 0.0735 L 0.43923 1.385 0.30260 N 0.79326 P;P 0.47191 0.891;0.891 P;P 0.49140 0.601;0.601 T 0.30851 -0.9964 10 0.44086 T 0.13 . 5.7987 0.18401 0.0:0.5056:0.1774:0.317 . 120;159 B7Z5J3;P43268 .;ETV4_HUMAN H 159;159;120;120 ENSP00000321835:Q159H;ENSP00000377273:Q159H;ENSP00000443846:Q120H;ENSP00000440023:Q120H ENSP00000321835:Q159H Q - 3 2 ETV4 38966149 0.935000 0.31712 0.967000 0.41034 0.926000 0.56050 -0.226000 0.09139 -0.196000 0.10366 0.459000 0.35465 CAA NOVEL ETV4-004 NOVEL alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000453492.1 3 17.152495 KEEP 0 0 0 57 1821 TT 1 0.99994 0 - 63 60 1838 0 0 186.531504 34 60 949 223 ENST00000545089.1 0.649485 0.99994 ATXN7L3 56970 __UNKNOWN__ __UNKNOWN__ 17 42274076 42274076 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:42274076A>G ENST00000454077.2 - 4 454 ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Intron NM_020218.1 NP_064603.1 ataxin 7-like 3 NA NA kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) aacccgggagacggaggttgc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056002 CCDS42345.1, CCDS45697.1 17q21 2010-03-10 ENSG00000087152 ENSG00000087152 56970 25416 protein-coding gene gene with protein product NA 15115762 Standard NM_001098833 NA Approved DKFZp761G2113 uc002ifz.3 Q14CW9 ENST00000454077.2:c.454+220T>C chr17.hg19:g.42274076A>G NA hg19 CCDS45697.1 0.02 -0.11401 GAGxCGG UNCOVERED NOVEL ATXN7L3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000457724.1 4 3.610449 KEEP 0 0 0 12 366 AA 0.993634 0.161432 0 - 3 60 94 0 0 7.782219 10 60 296 29 ENST00000454077.2 0.230769 0.162467 SLC4A1 6521 __UNKNOWN__ __UNKNOWN__ 17 42326416 42326416 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:42326416A>G ENST00000262418.6 - 0 4301 AC003102.1_ENST00000399246.2_3'UTR NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 (Diego blood group) NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018) anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) ttttagtagtaacggggtttc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11481.1 17q21.31 2014-07-19 2014-01-02 ENSG00000004939 ENSG00000004939 6521 CD molecules, Blood group antigens, Solute carriers 11027 protein-coding gene gene with protein product Froese blood group, Swann blood group, Wright blood group 109270 Waldner blood group, erythrocyte membrane protein band 3, Diego blood group, solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group), solute carrier family 4 (anion exchanger), member 1 EPB3, AE1, DI, WD NA 8434259 Standard NM_000342 NM_000342 NA Approved RTA1A, CD233, FR, SW, WR uc002igf.4 P02730 OTTHUMG00000156843 ENST00000262418.6:c.*1410T>C chr17.hg19:g.42326416A>G NA G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1 hg19 CCDS11481.1 0.02 -0.271832 AGTxACG COVERED NOVEL SLC4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346194.1 4 10.758809 KEEP 0 1 35 48 1420 AA 1 0.717315 0 - 3 60 102 0 0 7.352979 28 60 772 82 ENST00000262418.6 0.096774 0.717315 C17orf104 284071 __UNKNOWN__ __UNKNOWN__ 17 42747014 42747014 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:42747014A>G ENST00000409122.2 + 6 2599 C17orf104_ENST00000409464.1_3'UTR NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 NA NA autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 gatcacctgaagtcaggagtt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45703.1, CCDS45703.2 17q21.31 2009-09-08 ENSG00000180336 ENSG00000180336 284071 26670 protein-coding gene gene with protein product NA Standard NM_001145080 NM_001145080 NA Approved FLJ35848 uc002iha.3 A2RUB1 OTTHUMG00000153039 ENST00000409122.2:c.2457+129A>G chr17.hg19:g.42747014A>G NA B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45 hg19 CCDS45703.2 0.02 -0.385913 TGAxGTC COVERED NOVEL C17orf104-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329171.2 4 3.025636 KEEP 0 3 82 39 1206 AA 1 0.918171 0 + 4 60 125 0 0 8.764953 36 60 1066 100 ENST00000409122.2 0.1 0.918171 CTC-296K1.3 0 __UNKNOWN__ __UNKNOWN__ 17 42870666 42870666 __UNKNOWN__ lincRNA SNP G G A rs12952284 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:42870666G>A ENST00000585620.1 + 0 100 NA NA NA cactgagcccggccCGTGttt 0.552 NA G||| 1820 0.363419 0.1868 0.4553 5008 , , NA 10784 0.506 NA 0.4125 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000585620.1: chr17.hg19:g.42870666G>A NA hg19 0.02 1.385848 CCCxGCC COVERED NOVEL CTC-296K1.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000448655.1 69 2.976539 KEEP 171 2 57 30 1015 GG 0.99257 0.988831 0 + 9 60 265 0 0 29.381038 1 60 26 430 ENST00000585620.1 0.9 0.996233 AC002117.1 0 __UNKNOWN__ __UNKNOWN__ 17 43231228 43231228 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:43231228T>C ENST00000452741.1 - 0 126 AC002117.1_ENST00000589950.1_RNA NA NA NA gatggagtcttgctctgtcgc 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000452741.1: chr17.hg19:g.43231228T>C NA hg19 0.02 -0.21922 TCTxGCT COVERED NOVEL AC002117.1-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000255775.1 5 4.507775 KEEP 0 0 0 15 412 TT 0.99649 0.550947 0 - 3 60 90 0 0 6.628142 19 60 559 54 ENST00000452741.1 0.136364 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 44498434 44498434 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:44498434A>G NA NA ARL17B (59304 upstream) : LRRC37A2 (90442 downstream) NA NA NA caaagtgctgagattacaggc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.44498434A>G NA hg19 0.02 -0.184176 CTGxGAT UNCOVERED NOVEL 0 15 2.407648 KEEP 8 0 0 8 267 AA 0 0 0 3 56 104 0 0 8.310175 15 60 443 50 0.166667 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 44521842 44521842 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:44521842C>G NA NA ARL17B (82712 upstream) : LRRC37A2 (67034 downstream) NA NA NA caccatgttgcccaggctggt 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.44521842C>G NA hg19 0.02 -0.315807 TTGxCCA COVERED NOVEL 0 4 3.009825 KEEP 2 0 0 10 354 CC 0.992708 0.812496 0 3 49 97 0 0 6.809661 29 50 975 73 0.09375 0.818465 RP11-156P1.2 0 __UNKNOWN__ __UNKNOWN__ 17 45022197 45022197 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:45022197T>C ENST00000571841.1 + 6 643 GOSR2_ENST00000439730.2_Intron NA NA NA aactcctgacttcaggtgatc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000571841.1:c.583+6127T>C chr17.hg19:g.45022197T>C NA hg19 0.02 -0.289426 GACxTCA COVERED NOVEL RP11-156P1.2-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000440447.1 3 5.717505 KEEP 0 0 0 19 599 TT 0.99986 0.76078 0 + 3 60 92 1 1 6.310492 29 60 854 57 ENST00000571841.1 0.09375 0.760887 CDC27 996 __UNKNOWN__ __UNKNOWN__ 17 45214564 45214564 __UNKNOWN__ Missense_Mutation SNP A A T rs201184967 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:45214564A>T ENST00000531206.1 - 14 1888 c.1885T>A c.(1885-1887)Tgt>Agt p.C629S CDC27_ENST00000446365.2_Missense_Mutation_p.C562S|CDC27_ENST00000527547.1_Missense_Mutation_p.C622S|CDC27_ENST00000066544.3_Missense_Mutation_p.C623S P30260 CDC27_HUMAN cell division cycle 27 623 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) protein phosphatase binding (GO:0019903) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTTCGAAAACAAGCTAATGCT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 59 61 60 NA NA NA 17 NA NA 45214564 2203 4300 6503 SO:0001583 missense U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 996 Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing 1728 protein-coding gene gene with protein product anaphase promoting complex subunit 3 116946 cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae) D0S1430E, D17S978E NA 8234252 Standard XM_005257892 NA Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000531206.1:c.1885T>A chr17.hg19:g.45214564A>T ENSP00000434614:p.Cys629Ser NA G3V1C4|Q16349|Q96F35 hg19 CCDS45720.1 0.02 17.009056 AACxAGC COVERED . . . . . . . . . . A 15.90 2.968854 0.53614 . . ENSG00000004897 ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547 T;T;T;T 0.36878 1.23;1.23;1.23;1.23 5.81 5.81 0.92471 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 T 0.42245 0.1194 L 0.33485 1.01 0.80722 D 1 D;P;P;P 0.55172 0.97;0.698;0.698;0.936 P;B;B;P 0.56751 0.805;0.112;0.112;0.491 T 0.12889 -1.0530 10 0.25751 T 0.34 -10.7595 14.1085 0.65107 1.0:0.0:0.0:0.0 . 562;622;629;623 B4DL80;G5EA36;G3V1C4;P30260 .;.;.;CDC27_HUMAN S 623;629;562;622 ENSP00000066544:C623S;ENSP00000434614:C629S;ENSP00000392802:C562S;ENSP00000437339:C622S ENSP00000066544:C623S C - 1 0 CDC27 42569563 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.529000 0.81952 2.228000 0.72767 0.477000 0.44152 TGT NOVEL CDC27-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389745.1 27 73.623155 KEEP 0 9 289 346 10736 AA 1 1 0 - 10 60 290 0 0 25.846157 18 60 516 1463 ENST00000531206.1 0.357143 1 CDC27 996 __UNKNOWN__ __UNKNOWN__ 17 45214690 45214690 __UNKNOWN__ Missense_Mutation SNP G G A rs74390782 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:45214690G>A ENST00000531206.1 - 14 1762 c.1759C>T c.(1759-1761)Cgg>Tgg p.R587W CDC27_ENST00000446365.2_Missense_Mutation_p.R520W|CDC27_ENST00000527547.1_Missense_Mutation_p.R580W|CDC27_ENST00000066544.3_Missense_Mutation_p.R581W P30260 CDC27_HUMAN cell division cycle 27 581 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) protein phosphatase binding (GO:0019903) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TCATGTTCCCGTTGCAGACTG 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 996 Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing 1728 protein-coding gene gene with protein product anaphase promoting complex subunit 3 116946 cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae) D0S1430E, D17S978E NA 8234252 Standard XM_005257892 NA Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000531206.1:c.1759C>T chr17.hg19:g.45214690G>A ENSP00000434614:p.Arg587Trp NA G3V1C4|Q16349|Q96F35 hg19 CCDS45720.1 0.02 3.764773 CCCxTTG COVERED . . . . . . . . . . G 21.7 4.187140 0.78789 . . ENSG00000004897 ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547 T;T;T;T 0.63744 1.11;1.11;-0.06;1.11 5.81 4.76 0.60689 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 T 0.77870 0.4195 M 0.79614 2.46 0.58432 D 0.999999 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.78314 0.991;0.985;0.985;0.981 T 0.79999 -0.1566 10 0.87932 D 0 -6.0806 12.8812 0.58017 0.0:0.0:0.7678:0.2322 . 520;580;587;581 B4DL80;G5EA36;G3V1C4;P30260 .;.;.;CDC27_HUMAN W 581;587;520;580 ENSP00000066544:R581W;ENSP00000434614:R587W;ENSP00000392802:R520W;ENSP00000437339:R580W ENSP00000066544:R581W R - 1 2 CDC27 42569689 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.401000 0.52601 2.761000 0.94854 0.585000 0.79938 CGG NOVEL CDC27-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389745.1 15 20.297786 KEEP 12 1 30 78 2646 GG 1 1 0 - 5 40 143 0 0 10.817886 25 60 813 337 ENST00000531206.1 0.166667 1 NPEPPS 9520 __UNKNOWN__ __UNKNOWN__ 17 45668303 45668303 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:45668303C>T ENST00000322157.4 + 10 1497 NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Intron|NPEPPS_ENST00000530173.1_Intron NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 CAATGAAATACGTAATTTGTT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y07701 CCDS45721.1 17q12-q21 2008-07-18 ENSG00000141279 ENSG00000141279 9520 3.4.11.2 7900 protein-coding gene gene with protein product puromycin-sensitive aminopeptidase, metalloproteinase MP100 606793 NA 9048733, 10329370 Standard NM_006310 NM_006310 NA Approved PSA, MP100 uc002ilr.4 P55786 OTTHUMG00000165471 ENST00000322157.4:c.1260+56C>T chr17.hg19:g.45668303C>T NA B7Z463|Q6P145|Q9NP16|Q9UEM2 hg19 CCDS45721.1 0.02 1.328031 ATAxGTA COVERED NOVEL NPEPPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384269.1 5 8.091935 KEEP 22 5 154 81 2483 CC 1 0.999726 0 + 15 27 454 0 0 35.285553 71 60 2041 191 ENST00000322157.4 0.174419 0.999726 RP11-6N17.2 0 __UNKNOWN__ __UNKNOWN__ 17 45959620 45959620 __UNKNOWN__ lincRNA SNP T T C rs17616603 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:45959620T>C ENST00000580282.1 - 0 144 NA NA NA TGGATGGTATTTGAACTTTCC 0.443 NA T||| 1323 0.264177 0.0764 0.379 5008 , , NA 20639 0.2083 NA 0.337 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000580282.1: chr17.hg19:g.45959620T>C NA hg19 0.02 -0.298151 TATxTGA COVERED NOVEL RP11-6N17.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000441397.1 0 15.948792 KEEP 0 0 0 53 1698 TT 1 0.78106 0 - 3 60 110 0 0 8.026119 31 60 892 114 ENST00000580282.1 0.088235 0.78106 CBX1 10951 __UNKNOWN__ __UNKNOWN__ 17 46152659 46152659 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:46152659T>C ENST00000393408.3 - 4 799 CBX1_ENST00000225603.4_Intron|CBX1_ENST00000495350.1_Intron NM_006807.4 NP_006798.1 P83916 CBX1_HUMAN chromobox homolog 1 NA NA negative regulation of transcription, DNA-templated (GO:0045892) chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819) chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226) breast(1)|central_nervous_system(1)|kidney(1)|prostate(1) 4 caggttcaagtgattctcctg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(136;694 2497 38792 39034) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U35451 CCDS11525.1 17q21.32 2010-07-06 2010-06-24 ENSG00000108468 ENSG00000108468 10951 1551 protein-coding gene gene with protein product HP1 beta homolog (Drosophila ) 604511 chromobox homolog 1 (Drosophila HP1 beta) NA 9169582 Standard NM_006807 NM_001127228 NA Approved HP1Hs-beta, M31, MOD1, CBX, HP1-BETA uc002ind.4 P83916 OTTHUMG00000150417 ENST00000393408.3:c.319-197A>G chr17.hg19:g.46152659T>C NA P23197 hg19 CCDS11525.1 0.02 -0.219234 AAGxGAT COVERED NOVEL CBX1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318016.1 6 2.742555 KEEP 2 1 31 20 636 TT 0.999869 0.552815 0 - 3 60 92 0 0 6.707315 21 60 609 54 ENST00000393408.3 0.125 0.552887 HOXB8 3218 __UNKNOWN__ __UNKNOWN__ 17 46691739 46691739 __UNKNOWN__ Missense_Mutation SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:46691739A>C ENST00000239144.4 - 1 562 c.328T>G c.(328-330)Tgc>Ggc p.C110G HOXB8_ENST00000576562.1_Missense_Mutation_p.C110G|HOXB7_ENST00000567101.2_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 110 NA adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) large_intestine(1)|lung(8)|urinary_tract(2) 11 GCAAGCTTGCAGTCTGCGTAC 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 34 35 35 NA NA NA 17 NA NA 46691739 2202 4298 6500 SO:0001583 missense CCDS11533.1 17q21.32 2011-06-20 2005-12-22 ENSG00000120068 ENSG00000120068 3218 Homeoboxes / ANTP class : HOXL subclass 5119 protein-coding gene gene with protein product 142963 homeo box B8 HOX2, HOX2D NA 1973146, 1358459 Standard XM_005257286 NA Approved uc002inw.3 P17481 OTTHUMG00000159904 ENST00000239144.4:c.328T>G chr17.hg19:g.46691739A>C ENSP00000239144:p.Cys110Gly NA Q9H1I2 hg19 CCDS11533.1 0.02 12.184227 TGCxGTC COVERED . . . . . . . . . . a 16.05 3.013448 0.54468 . . ENSG00000120068 ENST00000239144 T 0.42513 0.97 2.97 2.97 0.34412 . 0.000000 0.64402 U 0.000003 T 0.60405 0.2266 M 0.81239 2.535 0.58432 D 0.999993 D 0.55800 0.973 D 0.66196 0.942 T 0.60826 -0.7186 10 0.30078 T 0.28 . 11.5167 0.50526 1.0:0.0:0.0:0.0 . 110 P17481 HXB8_HUMAN G 110 ENSP00000239144:C110G ENSP00000239144:C110G C - 1 0 HOXB8 44046738 1.000000 0.71417 1.000000 0.80357 0.968000 0.65278 8.640000 0.91028 1.376000 0.46267 0.241000 0.17934 TGC NOVEL HOXB8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000358092.3 2 70.099098 KEEP 0 0 0 233 7237 AA 1 1 0 - 146 60 4846 0 0 460.342653 167 60 4957 795 ENST00000239144.4 0.466454 1 TTLL6 284076 __UNKNOWN__ __UNKNOWN__ 17 46887195 46887195 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:46887195A>G ENST00000393382.3 - 2 245 TTLL6_ENST00000470462.2_Intron NM_001130918.1 NP_001124390.1 tubulin tyrosine ligase-like family, member 6 NA NA endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 tccagcctggatgacagagac 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093127 CCDS11537.2, CCDS45724.1 17q21.32 2013-02-14 ENSG00000170703 ENSG00000170703 284076 Tubulin tyrosine ligase-like family 26664 protein-coding gene gene with protein product 610849 NA 15890843 Standard NM_173623 NM_173623 NA Approved FLJ35808 uc021tzm.1 Q8N841 OTTHUMG00000156978 ENST00000393382.3:c.104-4842T>C chr17.hg19:g.46887195A>G NA hg19 CCDS45724.1 0.02 -0.184184 TGGxTGA COVERED NOVEL TTLL6-003 KNOWN downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346939.3 10 3.6108 KEEP 0 0 0 12 384 AA 0.993634 0.420782 0 - 3 60 101 0 0 7.933343 16 60 475 44 ENST00000393382.3 0.157895 0.423478 CALCOCO2 10241 __UNKNOWN__ __UNKNOWN__ 17 46941703 46941703 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:46941703A>G ENST00000258947.3 + 0 2778 NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4 NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 NA NA response to interferon-gamma (GO:0034341)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) protein homodimerization activity (GO:0042803) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 tgggattacaagcgtgagcca 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC004130 CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1 17q21.32 2006-02-09 ENSG00000136436 10241 29912 protein-coding gene gene with protein product 604587 NA 7540613 Standard NM_005831 NM_001261390 NA Approved MGC17318, NDP52 uc010wlr.3 Q13137 ENST00000258947.3:c.*1336A>G chr17.hg19:g.46941703A>G NA B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7 hg19 CCDS11538.1 0.02 3.6196 ACAxGCG COVERED NOVEL CALCOCO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360866.1 21 17.826458 KEEP 0 2 74 85 2736 AA 1 1 0 + 5 60 170 0 0 10.294778 119 60 3581 297 ENST00000258947.3 0.040323 1 UBE2Z 65264 __UNKNOWN__ __UNKNOWN__ 17 46999143 46999143 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:46999143T>C ENST00000360943.5 + 5 938 NM_023079.4 NP_075567.2 Q9H832 UBE2Z_HUMAN ubiquitin-conjugating enzyme E2Z NA NA apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|nucleus (GO:0005634) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524) NA gtaatcctagtactttgggag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015890 CCDS11540.2 17q21.32 2010-01-14 2007-07-18 ENSG00000159202 ENSG00000159202 65264 Ubiquitin-conjugating enzymes E2 25847 protein-coding gene gene with protein product UBA6-specific enzyme E2 611362 NA 17597759 Standard NM_023079 NM_023079 NA Approved FLJ13855, USE1 uc002ioi.3 Q9H832 OTTHUMG00000150521 ENST00000360943.5:c.803+509T>C chr17.hg19:g.46999143T>C NA A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893 hg19 CCDS11540.2 0.02 -0.245455 TAGxACT COVERED NOVEL UBE2Z-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318724.2 7 3.307092 KEEP 0 0 0 11 313 TT 0.993072 0.636904 0 + 4 60 110 1 0 8.297983 19 60 510 59 ENST00000360943.5 0.173913 0.641347 RP11-81K2.1 0 __UNKNOWN__ __UNKNOWN__ 17 47474446 47474446 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:47474446A>G ENST00000576461.1 + 2 270 NA NA NA gattacaggcatgagccaccg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000576461.1:c.178+23998A>G chr17.hg19:g.47474446A>G NA hg19 0.02 -0.201717 GGCxTGA COVERED NOVEL RP11-81K2.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000439714.1 1 2.407303 KEEP 0 0 0 8 250 AA 0.99257 0.4869 0 + 3 60 96 0 0 7.292491 18 60 538 45 ENST00000576461.1 0.142857 0.490544 RP11-81K2.1 0 __UNKNOWN__ __UNKNOWN__ 17 47483009 47483009 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:47483009T>C ENST00000576461.1 + 2 270 PHB_ENST00000511832.1_Intron|PHB_ENST00000300408.3_Intron|PHB_ENST00000508009.1_Intron NA NA NA tggtggctcatgcctgtaatc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000576461.1:c.178+32561T>C chr17.hg19:g.47483009T>C NA hg19 0.02 -0.219225 TCAxGCC COVERED NOVEL RP11-81K2.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000439714.1 5 2.705167 KEEP 0 0 0 9 261 TT 0.99254 0.578582 0 + 3 60 98 0 0 7.30612 21 60 593 44 ENST00000576461.1 0.125 0.58293 NGFR 4804 __UNKNOWN__ __UNKNOWN__ 17 47591411 47591411 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:47591411G>C ENST00000172229.3 + 0 2449 RP5-1029K10.2_ENST00000514506.1_RNA NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor NA NA apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273) cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886) death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GCAacacacagacacacgcac 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M14764 CCDS11549.1 17q21-q22 2013-05-22 2010-04-28 ENSG00000064300 ENSG00000064300 4804 Tumor necrosis factor receptor superfamily, CD molecules 7809 protein-coding gene gene with protein product low affinity nerve growth factor receptor, TNFR superfamily, member 16 162010 nerve growth factor receptor (TNFR superfamily, member 16) NA 3022937, 3006050 Standard NM_002507 NA Approved TNFRSF16, CD271, p75NTR uc002ioz.4 P08138 OTTHUMG00000161495 ENST00000172229.3:c.*1040G>C chr17.hg19:g.47591411G>C NA B2R961|B4E096 hg19 CCDS11549.1 0.02 5.513813 ACAxACA COVERED NOVEL NGFR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365150.1 14 40.625595 KEEP 0 0 0 135 4688 GG 1 1 0 + 6 60 209 0 0 12.46695 166 60 5466 385 ENST00000172229.3 0.034884 1 ITGA3 3675 __UNKNOWN__ __UNKNOWN__ 17 48158614 48158614 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:48158614C>G ENST00000007722.7 + 23 2820 ITGA3_ENST00000320031.8_Intron P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) NA NA blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588) basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202) glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982) endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 AGCTTAGGGTCGGAGGTAGGC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M59911 CCDS11557.1, CCDS11558.1 17q21.33 2010-03-23 2003-10-13 ENSG00000005884 ENSG00000005884 3675 CD molecules, Integrins 6139 protein-coding gene gene with protein product 605025 antigen identified by monoclonal antibody J143 MSK18 NA 1655803, 9704023 Standard NM_005501 NM_005501 NA Approved CD49c, VLA3a, VCA-2, GAP-B3 uc010dbm.3 P26006 OTTHUMG00000161890 ENST00000007722.7:c.2821-60C>G chr17.hg19:g.48158614C>G NA A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5 hg19 CCDS11557.1 0.02 -0.105265 GGTxGGA UNCOVERED NOVEL ITGA3-020 NOVEL not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000440087.1 0 4.509763 KEEP 0 0 0 15 492 CC 0.99649 0.139341 0 + 3 60 97 1 0 8.201 9 60 291 28 ENST00000007722.7 0.25 0.139832 MYCBPAP 84073 __UNKNOWN__ __UNKNOWN__ 17 48607621 48607621 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:48607621A>G ENST00000323776.5 + 19 3015 MYCBPAP_ENST00000436259.2_3'UTR NM_032133.4 NP_115509.4 MYCBP associated protein NA NA breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) ttgggaggccaaggtgggcag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028393 CCDS32680.2 17q21.33 2004-02-19 ENSG00000136449 ENSG00000136449 84073 19677 protein-coding gene gene with protein product 609835 NA 12151104 Standard NM_032133 NM_032133 NA Approved AMAP-1, DKFZp434N1415 uc010wmr.2 Q8TBZ2 OTTHUMG00000157184 ENST00000323776.5:c.2854-1067A>G chr17.hg19:g.48607621A>G NA hg19 CCDS32680.2 0.02 -0.18414 GCCxAGG COVERED NOVEL MYCBPAP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000347814.1 2 3.008514 KEEP 2 0 0 10 292 AA 0.99254 0.454342 0 + 3 60 99 0 0 7.661288 17 60 482 42 ENST00000323776.5 0.15 0.457757 ABCC3 8714 __UNKNOWN__ __UNKNOWN__ 17 48713113 48713113 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:48713113T>C ENST00000285238.8 + 1 125 ABCC3_ENST00000427699.1_Intron|ABCC3_ENST00000515707.1_3'UTR NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541) ggtgcagtggttcacgcctgt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y17151 CCDS32681.1, CCDS45739.1 17q21 2012-03-14 ENSG00000108846 ENSG00000108846 8714 ATP binding cassette transporters / subfamily C 54 protein-coding gene gene with protein product canalicular multispecific organic anion transporter 2 604323 NA 8894702, 9827529 Standard NM_020038 NM_003786 NA Approved MRP3, cMOAT2, EST90757, MLP2, MOAT-D uc002isl.3 O15438 OTTHUMG00000162245 ENST00000285238.8:c.45+771T>C chr17.hg19:g.48713113T>C NA B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52 hg19 CCDS32681.1 0.02 1.660708 TGGxTCA COVERED NOVEL ABCC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368083.2 11 6.646874 KEEP 1 1 34 34 1072 TT 0.999999 0.999486 0 + 6 60 203 0 0 13.981179 72 60 2109 146 ENST00000285238.8 0.076923 0.999487 SPAG9 9043 __UNKNOWN__ __UNKNOWN__ 17 49042149 49042149 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:49042149C>T ENST00000262013.7 - 0 5658 SPAG9_ENST00000509724.1_Intron NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 NA NA activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471) NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ggtcttgctccgtcacccagg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011088 CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1 17q21.33 2013-09-23 ENSG00000008294 ENSG00000008294 9043 14524 protein-coding gene gene with protein product sperm surface protein, JNK/SAPK-associated protein, JNK interacting protein, sperm specific protein, c-Jun NH2-terminal kinase-associated leucine zipper protein, Max-binding protein, JNK-associated leucine-zipper protein, HLC-4 protein, lung cancer oncogene 4, proliferation-inducing gene 6, cancer/testis antigen 89 605430 NA 9480848, 11106729 Standard NM_003971 NM_003971 NA Approved HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89 uc002itc.3 O60271 OTTHUMG00000162316 ENST00000262013.7:c.*1484G>A chr17.hg19:g.49042149C>T NA A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811 hg19 CCDS45740.1 0.02 3.096306 CTCxGTC COVERED . . . . . . . . . . C 0.218 -1.031272 0.02029 . . ENSG00000008294 ENST00000357791 . . . 0.185 -0.371 0.12525 . . . . . T 0.36193 0.0958 . . . 0.09310 N 1 . . . . . . T 0.36625 -0.9740 4 0.87932 D 0 . . . . . . . . R 615 . ENSP00000350439:G615R G - 1 0 SPAG9 46397148 0.013000 0.17824 0.011000 0.14972 0.015000 0.08874 -0.677000 0.05215 -0.722000 0.04922 -0.708000 0.03648 GGA NOVEL SPAG9-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000368543.2 10 21.129975 KEEP 0 2 62 92 2934 CC 1 0.999978 0 - 7 60 217 2 0 14.54587 78 60 2509 240 ENST00000262013.7 0.082353 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 52794773 52794773 __UNKNOWN__ IGR SNP G G A rs569585541 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:52794773G>A NA NA KIF2B (892200 upstream) : RN7SKP14 (53536 downstream) NA NA NA atactgcctcggcctcccaaa 0.398 NA G||| 3 0.000599042 0.0023 0 5008 , , NA 14936 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.52794773G>A NA hg19 0.02 -0.31574 CTCxGCC COVERED NOVEL 0 4 4.213763 KEEP 0 0 0 14 493 GG 0.995343 0.814653 0 4 60 113 1 0 7.817134 31 60 1011 78 0.114286 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 52794795 52794795 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:52794795G>A NA NA KIF2B (892222 upstream) : RN7SKP14 (53514 downstream) NA NA NA tgctgggattgcaggcatgag 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.52794795G>A NA hg19 0.02 -0.298188 ATTxCAG COVERED NOVEL 0 3 3.611614 KEEP 0 0 0 12 418 GG 0.993634 0.776087 0 7 60 181 0 0 13.93623 27 60 922 62 0.205882 0.78106 TOM1L1 10040 __UNKNOWN__ __UNKNOWN__ 17 53013289 53013289 __UNKNOWN__ Intron SNP G G T rs9909096 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:53013289G>T ENST00000575882.1 + 9 1207 TOM1L1_ENST00000445275.2_Intron|TOM1L1_ENST00000572158.1_Intron|TOM1L1_ENST00000575333.1_Intron|TOM1L1_ENST00000536554.1_Intron|TOM1L1_ENST00000570371.1_Intron|TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000348161.4_Intron NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 NA NA activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 ttcgaaaccagcctgaccaac 0.552 NA G||| 1295 0.258586 0.2844 0.1844 5008 , , NA 15903 0.253 NA 0.2932 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ010071 CCDS11582.1 17q23.2 2008-01-03 2007-01-12 ENSG00000141198 10040 11983 protein-coding gene gene with protein product 604701 target of myb1 (chicken) homolog-like 1 NA 10329004, 15611048, 17977829 Standard NM_005486 NM_005486 NA Approved SRCASM uc002iud.2 O75674 ENST00000575882.1:c.855-721G>T chr17.hg19:g.53013289G>T NA Q53G06|Q8N749 hg19 CCDS11582.1 0.02 1.442553 CCAxCCT UNCOVERED NOVEL TOM1L1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000439029.2 134 3.23949 KEEP 204 3 77 38 1379 GG 0 0 0 + 13 60 378 0 0 43.994053 0 0 0 418 ENST00000575882.1 1 0.9982 CUEDC1 404093 __UNKNOWN__ __UNKNOWN__ 17 55960850 55960850 __UNKNOWN__ Intron SNP C C T rs112096254 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:55960850C>T ENST00000577830.1 - 2 750 CUEDC1_ENST00000360238.2_Intron|CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000407144.2_Intron NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 NA NA endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 tttgggaggccgaggcgggca 0.498 NA C||| 168 0.0335463 0.1233 0.0072 5008 , , NA 19984 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000746 CCDS11599.1 17q23.2 2004-03-16 ENSG00000180891 404093 31350 protein-coding gene gene with protein product NA Standard NM_017949 NM_001271875 NA Approved uc002ive.2 Q9NWM3 ENST00000577830.1:c.336+1739G>A chr17.hg19:g.55960850C>T NA D3DTZ2|Q9NWD0 hg19 CCDS11599.1 0.02 -0.228081 GGCxGAG COVERED NOVEL CUEDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000443305.1 3 2.708701 KEEP 0 0 0 9 308 CC 0.99254 0.578582 0 - 3 60 89 0 0 6.528073 19 60 651 60 ENST00000577830.1 0.136364 0.58293 CUEDC1 404093 __UNKNOWN__ __UNKNOWN__ 17 55971769 55971769 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:55971769T>C ENST00000577830.1 - 2 99 CUEDC1_ENST00000360238.2_Intron|CUEDC1_ENST00000577840.1_Intron NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 NA NA endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 tggtggctcatgcctgtaatc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000746 CCDS11599.1 17q23.2 2004-03-16 ENSG00000180891 404093 31350 protein-coding gene gene with protein product NA Standard NM_017949 NM_001271875 NA Approved uc002ive.2 Q9NWM3 ENST00000577830.1:c.315-8529A>G chr17.hg19:g.55971769T>C NA D3DTZ2|Q9NWD0 hg19 CCDS11599.1 0.02 -0.201633 TCAxGCC COVERED NOVEL CUEDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000443305.1 4 2.708347 KEEP 1 0 0 9 286 TT 0.99254 0.486885 0 - 3 60 97 0 0 7.265872 20 60 579 49 ENST00000577830.1 0.130435 0.490544 LPO 4025 __UNKNOWN__ __UNKNOWN__ 17 56329484 56329484 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:56329484G>T ENST00000262290.4 + 8 1096 LPO_ENST00000543544.1_Intron|LPO_ENST00000582328.1_Intron|LPO_ENST00000421678.2_Intron NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase NA NA defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969) basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393) breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 CTGGGGAGAGGTTGCCAGGAC 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M58151 CCDS32689.1, CCDS54149.1 17q23.1 2008-02-05 ENSG00000167419 4025 1.11.1.7 6678 protein-coding gene gene with protein product 150205 NA 2222811, 8964511 Standard NM_006151 NA Approved SPO uc002ivt.3 P22079 ENST00000262290.4:c.781-59G>T chr17.hg19:g.56329484G>T NA A5JUY4|E7EMJ3|Q13408|Q3KNQ2 hg19 CCDS32689.1 0.02 1.074309 GAGxTTG COVERED NOVEL LPO-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000443961.1 2 19.862389 KEEP 0 0 0 66 2228 GG 1 0.999407 0 + 10 60 267 0 0 18.290148 72 60 2379 175 ENST00000262290.4 0.121951 0.999407 TEX14 56155 __UNKNOWN__ __UNKNOWN__ 17 56677473 56677473 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:56677473T>C ENST00000240361.8 - 14 1782 TEX14_ENST00000389934.3_Intron|TEX14_ENST00000349033.5_Intron Q8IWB6 TEX14_HUMAN testis expressed 14 NA NA attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091) cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) ggattacaggtgtgagccacc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF285601 CCDS32692.1, CCDS32693.1, CCDS56042.1 17q22 2013-09-20 2007-03-13 ENSG00000121101 ENSG00000121101 56155 11737 protein-coding gene gene with protein product cancer/testis antigen 113 605792 testis expressed sequence 14 NA 11279525, 12711554 Standard NM_031272 NA Approved CT113 uc010dcz.2 Q8IWB6 OTTHUMG00000179245 ENST00000240361.8:c.1697-446A>G chr17.hg19:g.56677473T>C NA A6NH19|Q7RTP3|Q8ND97|Q9BXT9 hg19 CCDS56042.1 0.02 -0.201686 AGGxGTG COVERED NOVEL TEX14-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445446.1 4 2.407021 KEEP 0 0 0 8 246 TT 0.99257 0.4869 0 - 4 60 133 0 0 10.679946 18 60 521 40 ENST00000240361.8 0.181818 0.490544 PPM1E 22843 __UNKNOWN__ __UNKNOWN__ 17 57043607 57043607 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57043607A>G ENST00000308249.2 + 3 912 RP11-579O24.3_ENST00000582080.1_RNA NM_014906.4 NP_055721.3 Q96MI6 PPM1M_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E NA NA protein dephosphorylation (GO:0006470) nucleus (GO:0005634) CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145) biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) tgggtgtggtagctcacgcct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028995 CCDS11613.1 17q24.2 2012-04-17 2010-03-05 ENSG00000175175 ENSG00000175175 22843 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 19322 protein-coding gene gene with protein product partner of PIX 1, nuclear calmodulin-dependent protein kinase phosphatase protein phosphatase 1E (PP2C domain containing) NA 11864573, 10470851 Standard NM_014906 NR_048561 NA Approved POPX1, KIAA1072, PP2CH, CaMKP-N uc002iwx.4 Q8WY54 ENST00000308249.2:c.783+353A>G chr17.hg19:g.57043607A>G NA Q8N8J9|Q96DB8 hg19 CCDS11613.1 0.02 1.546708 GGTxGCT COVERED NOVEL PPM1E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445458.1 12 3.677912 KEEP 1 2 74 38 1142 AA 1 0.99993 0 + 7 60 221 0 0 15.023261 76 60 2168 174 ENST00000308249.2 0.084337 0.99993 SKA2 348235 __UNKNOWN__ __UNKNOWN__ 17 57198285 57198285 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57198285G>A ENST00000583380.1 - 3 131 SKA2_ENST00000583927.1_Intron|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000580541.1_Intron Q8WVK7 SKA2_HUMAN spindle and kinetochore associated complex subunit 2 NA NA cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110) condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876) microtubule binding (GO:0008017) lung(4) 4 aggccgaggcgggcagatcat 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017873 CCDS45747.1, CCDS45748.1 17q23.2 2013-01-17 2009-08-19 2009-08-19 ENSG00000182628 ENSG00000182628 348235 28006 protein-coding gene gene with protein product family with sequence similarity 33, member A FAM33A NA 17093495, 19289083, 18583474 Standard NM_182620 NM_182620 NA Approved FLJ12758 uc010dde.1 Q8WVK7 ENST00000583380.1:c.121-1429C>T chr17.hg19:g.57198285G>A NA A6NIL3|B3KPL3|E9PCB8 hg19 0.02 -0.289476 GGCxGGC COVERED NOVEL SKA2-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000445946.1 4 3.906668 KEEP 3 0 0 13 426 GG 0.993634 0.756043 0 - 4 31 122 0 0 8.93364 27 60 900 78 ENST00000583380.1 0.129032 0.760887 SKA2 348235 __UNKNOWN__ __UNKNOWN__ 17 57222438 57222438 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57222438T>C ENST00000583380.1 - 1 44 SKA2_ENST00000583927.1_Intron|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000580541.1_Intron Q8WVK7 SKA2_HUMAN spindle and kinetochore associated complex subunit 2 NA NA cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110) condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876) microtubule binding (GO:0008017) lung(4) 4 ggattacaggtgtgagccacc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017873 CCDS45747.1, CCDS45748.1 17q23.2 2013-01-17 2009-08-19 2009-08-19 ENSG00000182628 ENSG00000182628 348235 28006 protein-coding gene gene with protein product family with sequence similarity 33, member A FAM33A NA 17093495, 19289083, 18583474 Standard NM_182620 NM_182620 NA Approved FLJ12758 uc010dde.1 Q8WVK7 ENST00000583380.1:c.33+10053A>G chr17.hg19:g.57222438T>C NA A6NIL3|B3KPL3|E9PCB8 hg19 0.02 -0.298178 AGGxGTG COVERED NOVEL SKA2-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000445946.1 7 2.707889 KEEP 0 0 0 9 274 TT 0.99254 0.794276 0 - 4 60 140 0 0 10.732979 27 60 777 60 ENST00000583380.1 0.129032 0.800245 RP11-567L7.6 0 __UNKNOWN__ __UNKNOWN__ 17 57530202 57530202 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57530202A>G ENST00000584262.1 - 0 583 NA NA NA ttgaactcctagcctcaagtg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000584262.1: chr17.hg19:g.57530202A>G NA hg19 0.02 -0.2189 CCTxGCC COVERED NOVEL RP11-567L7.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000446039.1 19 2.407254 KEEP 0 0 0 8 248 AA 0.99257 0.54878 0 - 3 60 88 0 0 6.310618 21 60 590 40 ENST00000584262.1 0.125 0.552887 CLTC 1213 __UNKNOWN__ __UNKNOWN__ 17 57721942 57721942 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57721942A>G ENST00000269122.3 + 2 524 CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572) clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) acggagttttactcttgtcac 0.418 NA T ALK, TFE3 ALCL, renal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q11-qter 1213 clathrin, heavy polypeptide (Hc) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X55878 CCDS32696.1, CCDS74115.1 17q23.1 2013-09-19 2006-09-29 ENSG00000141367 ENSG00000141367 1213 2092 protein-coding gene gene with protein product 118955 clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2 CLTCL2 NA 1765375, 7584026 Standard NM_004859 NM_004859 NA Approved Hc uc002ixq.1 Q00610 OTTHUMG00000134279 ENST00000269122.3:c.250+98A>G chr17.hg19:g.57721942A>G NA D3DU00|Q6N0A0|Q86TF2 hg19 CCDS32696.1 0.02 -0.201625 TTTxCTC COVERED NOVEL CLTC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258859.1 3 6.014389 KEEP 2 0 0 20 569 AA 0.999863 0.490477 0 + 3 60 98 1 0 7.493008 18 70 475 64 ENST00000269122.3 0.142857 0.490544 CLTC 1213 __UNKNOWN__ __UNKNOWN__ 17 57772804 57772804 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57772804G>C ENST00000269122.3 + 0 6893 NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572) clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) attgcttgaggccaggagttc 0.478 NA T ALK, TFE3 ALCL, renal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q11-qter 1213 clathrin, heavy polypeptide (Hc) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X55878 CCDS32696.1, CCDS74115.1 17q23.1 2013-09-19 2006-09-29 ENSG00000141367 ENSG00000141367 1213 2092 protein-coding gene gene with protein product 118955 clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2 CLTCL2 NA 1765375, 7584026 Standard NM_004859 NM_004859 NA Approved Hc uc002ixq.1 Q00610 OTTHUMG00000134279 ENST00000269122.3:c.*1591G>C chr17.hg19:g.57772804G>C NA D3DU00|Q6N0A0|Q86TF2 hg19 CCDS32696.1 0.02 1.464899 GAGxCCA COVERED NOVEL CLTC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258859.1 19 10.486477 KEEP 0 0 0 35 1173 GG 0.999999 0.999918 0 + 4 60 134 0 0 8.169659 88 60 2942 181 ENST00000269122.3 0.043478 0.999919 CLTC 1213 __UNKNOWN__ __UNKNOWN__ 17 57772820 57772820 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57772820A>C ENST00000269122.3 + 0 6909 NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572) clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) agttcgagacaagcctgacca 0.512 NA T ALK, TFE3 ALCL, renal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q11-qter 1213 clathrin, heavy polypeptide (Hc) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X55878 CCDS32696.1, CCDS74115.1 17q23.1 2013-09-19 2006-09-29 ENSG00000141367 ENSG00000141367 1213 2092 protein-coding gene gene with protein product 118955 clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2 CLTCL2 NA 1765375, 7584026 Standard NM_004859 NM_004859 NA Approved Hc uc002ixq.1 Q00610 OTTHUMG00000134279 ENST00000269122.3:c.*1607A>C chr17.hg19:g.57772820A>C NA D3DU00|Q6N0A0|Q86TF2 hg19 CCDS32696.1 0.02 3.794985 GACxAGC COVERED NOVEL CLTC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258859.1 22 4.422904 KEEP 1 3 80 43 1294 AA 1 0.999996 0 + 6 60 183 0 0 11.116287 102 60 2967 218 ENST00000269122.3 0.055556 0.999996 CLTC 1213 __UNKNOWN__ __UNKNOWN__ 17 57772933 57772933 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57772933T>G ENST00000269122.3 + 0 7022 NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572) clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ggctgaggcatgagaatcact 0.468 NA T ALK, TFE3 ALCL, renal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q11-qter 1213 clathrin, heavy polypeptide (Hc) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X55878 CCDS32696.1, CCDS74115.1 17q23.1 2013-09-19 2006-09-29 ENSG00000141367 ENSG00000141367 1213 2092 protein-coding gene gene with protein product 118955 clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2 CLTCL2 NA 1765375, 7584026 Standard NM_004859 NM_004859 NA Approved Hc uc002ixq.1 Q00610 OTTHUMG00000134279 ENST00000269122.3:c.*1720T>G chr17.hg19:g.57772933T>G NA D3DU00|Q6N0A0|Q86TF2 hg19 CCDS32696.1 0.02 3.87392 GCAxGAG COVERED NOVEL CLTC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258859.1 26 10.832718 KEEP 0 0 0 36 1136 TT 1 0.999977 0 + 5 60 172 0 0 10.991893 94 60 2810 189 ENST00000269122.3 0.050505 0.999978 CLTC 1213 __UNKNOWN__ __UNKNOWN__ 17 57772997 57772997 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57772997T>G ENST00000269122.3 + 0 7086 NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572) clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ctgcactccatcctgggtgac 0.453 NA T ALK, TFE3 ALCL, renal NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q11-qter 1213 clathrin, heavy polypeptide (Hc) L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X55878 CCDS32696.1, CCDS74115.1 17q23.1 2013-09-19 2006-09-29 ENSG00000141367 ENSG00000141367 1213 2092 protein-coding gene gene with protein product 118955 clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2 CLTCL2 NA 1765375, 7584026 Standard NM_004859 NM_004859 NA Approved Hc uc002ixq.1 Q00610 OTTHUMG00000134279 ENST00000269122.3:c.*1784T>G chr17.hg19:g.57772997T>G NA D3DU00|Q6N0A0|Q86TF2 hg19 CCDS32696.1 0.02 -0.210476 CCAxCCT COVERED NOVEL CLTC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258859.1 3 3.911628 KEEP 0 0 0 13 401 TT 0.994391 0.519232 0 + 4 60 127 1 0 10.07995 18 60 518 41 ENST00000269122.3 0.181818 0.522161 VMP1 81671 __UNKNOWN__ __UNKNOWN__ 17 57824716 57824716 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:57824716T>C ENST00000262291.4 + 5 724 VMP1_ENST00000536180.1_Intron|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000539763.1_Intron|VMP1_ENST00000537567.1_Intron NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 NA NA autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337) autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 gccaggagtttaagaccagcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11619.1 17q23.1 2014-05-20 2011-03-02 2011-03-02 ENSG00000062716 ENSG00000062716 81671 29559 protein-coding gene gene with protein product ectopic P-granules autophagy protein 3 homolog (C. elegans), transport and golgi organization 5 homolog (Drosophila) 611753 transmembrane protein 49 TMEM49 NA 11230166, 11785947 Standard NM_030938 NM_030938 NA Approved EPG3, TANGO5 uc002ixu.4 Q96GC9 OTTHUMG00000179882 ENST00000262291.4:c.414+8408T>C chr17.hg19:g.57824716T>C NA B4DVV9|Q9H0P4|Q9P089 hg19 CCDS11619.1 0.02 -0.271801 GTTxAAG COVERED NOVEL VMP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448793.1 11 4.211865 KEEP 0 0 0 14 419 TT 0.995343 0.713975 0 + 4 60 121 0 0 8.897583 26 60 710 61 ENST00000262291.4 0.133333 0.717315 USP32 84669 __UNKNOWN__ __UNKNOWN__ 17 58352701 58352701 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:58352701C>T ENST00000300896.4 - 6 766 USP32_ENST00000393003.3_Intron NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) Golgi apparatus (GO:0005794)|membrane (GO:0016020) calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) gcctgtaatcccagctactca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF533230 CCDS32697.1 17q23.3 2013-01-10 2005-08-08 ENSG00000170832 ENSG00000170832 84669 Ubiquitin-specific peptidases, EF-hand domain containing 19143 protein-coding gene gene with protein product 607740 ubiquitin specific protease 32 NA 12838346 Standard NM_032582 NM_032582 NA Approved NY-REN-60, USP10 uc002iyo.1 Q8NFA0 ENST00000300896.4:c.572-3859G>A chr17.hg19:g.58352701C>T NA Q7Z5T3|Q9BX85|Q9Y591 hg19 CCDS32697.1 0.02 -0.087712 ATCxCAG UNCOVERED NOVEL USP32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449235.2 7 2.407725 KEEP 1 0 0 8 270 CC 0.99257 0.09898 0 - 3 59 85 0 0 7.632289 5 60 159 20 ENST00000300896.4 0.375 0.099721 APPBP2 10513 __UNKNOWN__ __UNKNOWN__ 17 58587020 58587020 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:58587020G>A ENST00000083182.3 - 2 426 NM_001282476.1|NM_006380.2 NP_001269405.1|NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 NA NA intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152) cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634) microtubule motor activity (GO:0003777) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) aaaattagccgggcgtggtgg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF017782 CCDS32699.1 17q23.2 2012-09-20 2001-11-28 ENSG00000062725 ENSG00000062725 10513 622 protein-coding gene gene with protein product protein interacting with APP tail 1 605324 amyloid beta precursor protein (cytoplasmic tail)-binding protein 2 NA 9843960 Standard NM_006380 NM_006380 NA Approved KIAA0228, Hs.84084, PAT1 uc002iys.1 Q92624 ENST00000083182.3:c.139-9172C>T chr17.hg19:g.58587020G>A NA A8K862|O95095|Q8WVC9 hg19 CCDS32699.1 0.02 -0.105239 GCCxGGC UNCOVERED NOVEL APPBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449465.1 3 2.407136 KEEP 0 0 0 8 254 GG 0.99257 0.138793 0 - 3 60 82 0 0 6.832217 8 60 247 24 ENST00000083182.3 0.272727 0.139832 RP11-15E18.4 0 __UNKNOWN__ __UNKNOWN__ 17 58645804 58645804 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:58645804T>C ENST00000592917.1 + 2 188 NA NA NA gcctgggcaatatagtgagac 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000592917.1:c.54+3004T>C chr17.hg19:g.58645804T>C NA hg19 0.02 -0.201669 CAAxATA COVERED NOVEL RP11-15E18.4-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000449472.1 9 2.4071 KEEP 0 0 0 8 245 TT 0.99257 0.4869 0 + 3 60 89 0 0 6.811469 15 60 414 36 ENST00000592917.1 0.166667 0.490544 RP11-15E18.4 0 __UNKNOWN__ __UNKNOWN__ 17 58655605 58655605 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:58655605C>T ENST00000592917.1 + 3 330 NA NA NA atgatccacccgcctcggcct 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000592917.1:c.196+906C>T chr17.hg19:g.58655605C>T NA hg19 0.02 -0.192965 ACCxGCC COVERED NOVEL RP11-15E18.4-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000449472.1 14 2.407393 KEEP 0 0 0 8 266 CC 0.99257 0.454356 0 + 4 60 110 0 0 8.66322 15 60 488 40 ENST00000592917.1 0.210526 0.457757 RP11-15E18.4 0 __UNKNOWN__ __UNKNOWN__ 17 58655611 58655611 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:58655611G>A ENST00000592917.1 + 3 330 NA NA NA cacccgcctcggcctcccaaa 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000592917.1:c.196+912G>A chr17.hg19:g.58655611G>A NA hg19 0.02 -0.210484 CTCxGCC COVERED NOVEL RP11-15E18.4-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000449472.1 14 2.407462 KEEP 0 0 0 8 261 GG 0.99257 0.518282 0 + 3 57 93 0 0 6.992666 18 60 555 43 ENST00000592917.1 0.142857 0.522161 RP11-15E18.4 0 __UNKNOWN__ __UNKNOWN__ 17 58655618 58655618 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:58655618C>T ENST00000592917.1 + 3 330 NA NA NA ctcggcctcccaaagtgctgg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000592917.1:c.196+919C>T chr17.hg19:g.58655618C>T NA hg19 0.02 -0.236828 TCCxAAA COVERED NOVEL RP11-15E18.4-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000449472.1 14 2.407772 KEEP 0 0 0 8 278 CC 0.99257 0.607857 0 + 3 57 90 0 0 6.506387 21 60 666 45 ENST00000592917.1 0.125 0.612407 PPM1D 8493 __UNKNOWN__ __UNKNOWN__ 17 58685794 58685794 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:58685794A>G ENST00000305921.3 + 1 704 NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D NA NA G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314) nucleus (GO:0005634) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) aggccgaggcaggcagatcat 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U78305 CCDS11625.1 17q23.3 2014-09-17 2010-03-05 ENSG00000170836 ENSG00000170836 8493 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 9277 protein-coding gene gene with protein product wild-type p53-induced phosphatase 1, protein phosphatase 2C, delta isoform 605100 protein phosphatase 1D magnesium-dependent, delta isoform NA 9177166 Standard NM_003620 NM_003620 NA Approved Wip1, PP2C-DELTA uc002iyt.2 O15297 ENST00000305921.3:c.472+7547A>G chr17.hg19:g.58685794A>G NA Q53XP4|Q6P991|Q8IVR6 hg19 CCDS11625.1 0.02 -0.271883 GGCxGGC COVERED NOVEL PPM1D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449474.1 4 2.40735 KEEP 1 0 0 8 252 AA 0.99257 0.711986 0 + 3 60 96 0 0 6.943128 24 60 712 60 ENST00000305921.3 0.111111 0.717315 BCAS3 54828 __UNKNOWN__ __UNKNOWN__ 17 59369761 59369761 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:59369761T>C ENST00000390652.5 + 24 2501 BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000589222.1_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000407086.3_Intron NM_001099432.1 NP_001092902.1 breast carcinoma amplified sequence 3 NA NA NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) cctgtaatcctagcactttgg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF361219 CCDS11626.1, CCDS45749.1 17q23.2 2013-06-25 ENSG00000141376 ENSG00000141376 54828 WD repeat domain containing 14347 protein-coding gene gene with protein product 607470 NA 12378525 Standard NM_017679 NM_017679 NA Approved FLJ20128 uc002iyv.4 Q9H6U6 OTTHUMG00000180064 ENST00000390652.5:c.2471-75927T>C chr17.hg19:g.59369761T>C NA hg19 CCDS45749.1 0.02 -0.149097 TCCxAGC COVERED NOVEL BCAS3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000449578.1 8 2.407079 KEEP 0 0 0 8 248 TT 0.99257 0.289832 0 + 4 60 137 0 0 11.701851 12 60 345 33 ENST00000390652.5 0.25 0.292001 BRIP1 83990 __UNKNOWN__ __UNKNOWN__ 17 59804892 59804892 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:59804892A>C ENST00000259008.2 - 17 2647 BRIP1_ENST00000577598.1_Intron NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 NA NA DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 ctttgggaggatgaggcagga 0.438 NA F, N, Mis AML, leukemia, breast Involved in tolerance or repair of DNA crosslinks NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia J, breast cancer susceptiblity 17 17q22 83990 BRCA1 interacting protein C-terminal helicase 1 L, E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF360549 CCDS11631.1 17q22.2 2014-09-17 ENSG00000136492 83990 Fanconi anemia, complementation groups 20473 protein-coding gene gene with protein product BRCA1/BRCA2-associated helicase 1 605882 NA 11595410, 11301010 Standard NM_032043 NM_032043 NA Approved OF, BACH1, FANCJ uc002izk.2 Q9BX63 ENST00000259008.2:c.2380-11468T>G chr17.hg19:g.59804892A>C NA Q3MJE2|Q8NCI5 hg19 CCDS11631.1 0.02 -0.184159 AGGxTGA COVERED NOVEL BRIP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445362.1 6 3.008995 KEEP 0 0 0 10 315 AA 0.992708 0.42039 0 - 3 60 92 0 0 6.893332 18 60 520 43 ENST00000259008.2 0.142857 0.423478 INTS2 57508 __UNKNOWN__ __UNKNOWN__ 17 59958720 59958720 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:59958720A>G ENST00000251334.6 - 17 2445 INTS2_ENST00000444766.3_Intron Q9H0H0 INT2_HUMAN integrator complex subunit 2 NA NA snRNA processing (GO:0016180) integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 cactttgggaagccgaggcgg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033113 CCDS45750.1 17q23.2 2006-04-26 2006-03-15 2006-03-15 ENSG00000108506 57508 29241 protein-coding gene gene with protein product 611346 KIAA1287 KIAA1287 NA 16239144 Standard NM_020748 NR_026641 NA Approved INT2 uc002izn.3 Q9H0H0 ENST00000251334.6:c.2090-188T>C chr17.hg19:g.59958720A>G NA Q9ULD3 hg19 0.02 -0.245579 GGAxGCC COVERED NOVEL INTS2-002 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000445369.1 8 6.317801 KEEP 2 0 0 21 630 AA 0.999869 0.641263 0 - 3 60 99 0 0 7.527712 19 60 562 70 ENST00000251334.6 0.136364 0.641347 INTS2 57508 __UNKNOWN__ __UNKNOWN__ 17 59979148 59979148 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:59979148G>A ENST00000251334.6 - 9 1663 INTS2_ENST00000444766.3_Intron Q9H0H0 INT2_HUMAN integrator complex subunit 2 NA NA snRNA processing (GO:0016180) integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 tagtagagacggggtttcacc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033113 CCDS45750.1 17q23.2 2006-04-26 2006-03-15 2006-03-15 ENSG00000108506 57508 29241 protein-coding gene gene with protein product 611346 KIAA1287 KIAA1287 NA 16239144 Standard NM_020748 NR_026641 NA Approved INT2 uc002izn.3 Q9H0H0 ENST00000251334.6:c.1307+2672C>T chr17.hg19:g.59979148G>A NA Q9ULD3 hg19 0.02 1.535852 GACxGGG COVERED NOVEL INTS2-002 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000445369.1 40 3.309912 KEEP 27 0 0 11 354 GG 0.99254 0.960208 0 - 4 50 120 1 1 8.363882 34 60 971 105 ENST00000251334.6 0.105263 0.967425 INTS2 57508 __UNKNOWN__ __UNKNOWN__ 17 59979205 59979205 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:59979205T>C ENST00000251334.6 - 9 1663 INTS2_ENST00000444766.3_Intron Q9H0H0 INT2_HUMAN integrator complex subunit 2 NA NA snRNA processing (GO:0016180) integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 gtgatccacctgcctcagcct 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033113 CCDS45750.1 17q23.2 2006-04-26 2006-03-15 2006-03-15 ENSG00000108506 57508 29241 protein-coding gene gene with protein product 611346 KIAA1287 KIAA1287 NA 16239144 Standard NM_020748 NR_026641 NA Approved INT2 uc002izn.3 Q9H0H0 ENST00000251334.6:c.1307+2615A>G chr17.hg19:g.59979205T>C NA Q9ULD3 hg19 0.02 1.897451 ACCxGCC COVERED NOVEL INTS2-002 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000445369.1 45 3.611333 KEEP 23 0 0 12 390 TT 0.992708 0.974795 0 - 6 60 204 1 0 15.852001 35 60 1042 133 ENST00000251334.6 0.146341 0.981955 MARCH10 162333 __UNKNOWN__ __UNKNOWN__ 17 60818240 60818240 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:60818240T>C ENST00000311269.5 - 5 810 MARCH10_ENST00000583600.1_Intron|MARCH10_ENST00000544856.2_Intron|MARCH10_ENST00000456609.2_Intron NM_152598.2 NP_689811.2 Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase NA NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 cctcctgccttggcctcccaa 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093076 CCDS11635.1, CCDS74122.1, CCDS74123.1 17q23.3 2013-01-09 2012-02-23 2007-08-20 ENSG00000173838 162333 RING-type (C3HC4) zinc fingers, MARCH membrane-associated ring fingers 26655 protein-coding gene gene with protein product 613337 ring finger protein 190, membrane-associated ring finger (C3HC4) 10 RNF190 NA 17604280 Standard NM_152598 XM_005257103 NA Approved FLJ35757, MARCH-X uc002jag.4 Q8NA82 ENST00000311269.5:c.535+3496A>G chr17.hg19:g.60818240T>C NA D3DU09|Q8IYS7|Q8N7Z7 hg19 CCDS11635.1 0.02 -0.201725 CCTxGGC COVERED NOVEL MARCH10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445252.1 10 2.708333 KEEP 0 0 0 9 286 TT 0.99254 0.486885 0 - 3 60 99 0 0 7.733447 16 60 468 48 ENST00000311269.5 0.157895 0.490544 TANC2 26115 __UNKNOWN__ __UNKNOWN__ 17 61332699 61332699 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:61332699T>C ENST00000424789.2 + 7 815 AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Intron NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 NA NA in utero embryonic development (GO:0001701) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 gtgatccgcctgcctcggcct 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032974 CCDS45754.1 17q23.3 2013-01-11 ENSG00000170921 26115 Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing 30212 protein-coding gene gene with protein product rolling pebbles homolog B (Drosophila) 615047 NA Standard NM_025185 NA Approved DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA uc002jal.4 Q9HCD6 ENST00000424789.2:c.812-12410T>C chr17.hg19:g.61332699T>C NA Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2 hg19 CCDS45754.1 0.02 -0.192925 GCCxGCC COVERED NOVEL TANC2-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444765.1 3 2.708397 KEEP 0 0 0 9 287 TT 0.99254 0.454342 0 + 3 60 92 0 0 6.895307 18 60 535 47 ENST00000424789.2 0.142857 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 61545580 61545580 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:61545580C>G NA NA RP11-269G24.6 (12402 upstream) : ACE (8841 downstream) NA NA NA ttacaggcgtcagccaccgcg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.61545580C>G NA hg19 0.02 -0.131586 CGTxAGC COVERED NOVEL 0 7 2.708863 KEEP 0 0 0 9 324 CC 0.99254 0.259018 0 4 60 128 0 0 11.071006 10 60 337 34 0.285714 0.260965 MAP3K3 4215 __UNKNOWN__ __UNKNOWN__ 17 61705518 61705518 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:61705518G>T ENST00000577395.1 + 2 54 MAP3K3_ENST00000361733.3_Intron|MAP3K3_ENST00000361357.3_Intron|MAP3K3_ENST00000584573.1_Intron|MAP3K3_ENST00000579585.1_Intron Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 NA NA activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777) cytosol (GO:0005829) ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672) breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 tgcctgcctcggcctcccaaa 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U78876 CCDS32701.1, CCDS32702.1 17q 2011-06-09 ENSG00000198909 4215 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6855 protein-coding gene gene with protein product MAP/ERK kinase kinase 3, MAPK/ERK kinase kinase 3 602539 MEKK3 NA 9006902 Standard NM_002401 NM_002401 NA Approved MAPKKK3 uc002jbf.3 Q99759 ENST00000577395.1:c.5-4523G>T chr17.hg19:g.61705518G>T NA B2RCW2|D3DU15|Q5BKZ6|Q8N3I9 hg19 0.02 -0.228074 CTCxGCC COVERED NOVEL MAP3K3-005 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000443869.1 8 2.708549 KEEP 3 0 0 9 300 GG 0.99257 0.578599 0 + 3 60 91 0 0 6.665335 20 60 668 51 ENST00000577395.1 0.130435 0.58293 CCDC47 57003 __UNKNOWN__ __UNKNOWN__ 17 61838175 61838175 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:61838175A>G ENST00000225726.5 - 6 1118 CCDC47_ENST00000582252.1_Intron|CCDC47_ENST00000403162.3_Intron NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 NA NA calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 ctccagcctgagcaacagagt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226054 CCDS11643.1 17q23.3 2005-12-19 ENSG00000108588 57003 24856 protein-coding gene gene with protein product NA 12477932 Standard NM_020198 NM_020198 NA Approved GK001 uc002jbs.4 Q96A33 ENST00000225726.5:c.735+98T>C chr17.hg19:g.61838175A>G NA B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3 hg19 CCDS11643.1 0.02 -0.420822 CTGxGCA COVERED NOVEL CCDC47-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444016.2 6 6.019016 KEEP 1 0 0 20 671 AA 0.999863 0.948272 0 - 3 60 102 1 0 7.227406 31 60 932 75 ENST00000225726.5 0.088235 0.948402 DDX42 11325 __UNKNOWN__ __UNKNOWN__ 17 61864320 61864320 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:61864320C>G ENST00000578681.1 + 3 585 DDX42_ENST00000583590.1_Intron|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000389924.2_Intron NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 NA NA protein localization (GO:0008104) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 acaggcgtgacccaccgcgcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015505 CCDS32704.1 17q23 2014-02-14 2013-05-13 ENSG00000198231 11325 DEAD-boxes 18676 protein-coding gene gene with protein product splicing factor 3b, subunit 8 613369 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 NA 10727850, 16397294 Standard NM_007372 NM_007372 NA Approved RNAHP, RHELP, SF3b125, SF3B8 uc002jbv.3 Q86XP3 ENST00000578681.1:c.-16-74C>G chr17.hg19:g.61864320C>G NA A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8 hg19 CCDS32704.1 0.02 -0.412304 TGAxCCA COVERED NOVEL DDX42-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444368.1 4 7.52434 KEEP 0 0 0 25 877 CC 0.999931 0.941676 0 + 6 60 209 0 0 16.283414 36 60 1212 85 ENST00000578681.1 0.142857 0.941741 DDX42 11325 __UNKNOWN__ __UNKNOWN__ 17 61880696 61880696 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:61880696T>C ENST00000578681.1 + 8 1222 DDX42_ENST00000583590.1_Intron|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000389924.2_Intron|DDX42_ENST00000457800.2_Intron NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 NA NA protein localization (GO:0008104) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 tgcctgtaattccagcacttt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015505 CCDS32704.1 17q23 2014-02-14 2013-05-13 ENSG00000198231 11325 DEAD-boxes 18676 protein-coding gene gene with protein product splicing factor 3b, subunit 8 613369 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 NA 10727850, 16397294 Standard NM_007372 NM_007372 NA Approved RNAHP, RHELP, SF3b125, SF3B8 uc002jbv.3 Q86XP3 ENST00000578681.1:c.622-1735T>C chr17.hg19:g.61880696T>C NA A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8 hg19 CCDS32704.1 0.02 -0.19227 AATxCCA COVERED NOVEL DDX42-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444368.1 9 2.407565 KEEP 2 0 0 8 263 TT 0.99257 0.454356 0 + 3 60 99 0 0 7.666833 17 60 448 46 ENST00000578681.1 0.15 0.457757 PLEKHM1P 440456 __UNKNOWN__ __UNKNOWN__ 17 62801272 62801272 __UNKNOWN__ RNA SNP C C T rs531622313 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:62801272C>T ENST00000582986.1 - 0 614 NR_024386.1 Q69YJ1 PKHMP_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene NA NA intracellular signal transduction (GO:0035556) metal ion binding (GO:0046872) NA tgttttgagacggagtctcgc 0.493 NA C||| 1 0.000199681 8e-04 0 5008 , , NA 16350 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 17q24.1 2012-10-03 ENSG00000214176 ENSG00000214176 440456 35411 pseudogene pseudogene NA Standard NR_024386 NR_024386 NA Approved LOC440456 uc002jew.4 Q69YJ1 OTTHUMG00000179296 ENST00000582986.1: chr17.hg19:g.62801272C>T NA hg19 0.02 1.342046 AGAxGGA COVERED NOVEL PLEKHM1P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000445598.1 13 12.638692 KEEP 26 0 0 42 1386 CC 0.999999 0.998199 0 - 6 60 186 1 1 12.500064 66 60 2078 173 ENST00000582986.1 0.083333 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 63065951 63065951 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:63065951T>C NA NA GNA13 (12994 upstream) : RP11-160O5.1 (30978 downstream) NA NA NA ggattacaggtgtgagccacc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.63065951T>C NA hg19 0.02 -0.359474 AGGxGTG COVERED NOVEL 0 10 3.009168 KEEP 0 0 0 10 312 TT 0.992708 0.892756 0 3 60 103 0 0 7.249182 33 60 941 76 0.083333 0.899314 PRKCA 5578 __UNKNOWN__ __UNKNOWN__ 17 64685001 64685001 __UNKNOWN__ Intron SNP C C T rs16960016 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:64685001C>T ENST00000413366.3 + 8 847 NM_002737.2 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha NA NA activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163) CAAAACCGCTCGACTAGAGGC 0.433 NA T||| 430 0.0858626 0.0658 0.1225 5008 , , NA 20255 0.0565 NA 0.0736 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11664.1 17q22-q24 2009-07-10 ENSG00000154229 5578 2.7.11.1 9393 protein-coding gene gene with protein product 176960 PKCA NA Standard NM_002737 NA Approved uc002jfp.1 P17252 ENST00000413366.3:c.822-68C>T chr17.hg19:g.64685001C>T NA B5BU22|Q15137|Q32M72|Q96RE4 hg19 CCDS11664.1 0.02 -0.140298 GCTxGAC COVERED NOVEL PRKCA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446976.1 0 2.407175 KEEP 0 0 0 8 251 CC 0.99257 0.259026 0 + 12 60 323 0 0 34.109428 4 60 127 24 ENST00000413366.3 0.75 0.260965 PRKCA 5578 __UNKNOWN__ __UNKNOWN__ 17 64794984 64794984 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:64794984G>A ENST00000413366.3 + 17 1880 NM_002737.2 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha NA NA activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163) ggtggtggtggtggtggtggt 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11664.1 17q22-q24 2009-07-10 ENSG00000154229 5578 2.7.11.1 9393 protein-coding gene gene with protein product 176960 PKCA NA Standard NM_002737 NA Approved uc002jfp.1 P17252 ENST00000413366.3:c.1855-5007G>A chr17.hg19:g.64794984G>A NA B5BU22|Q15137|Q32M72|Q96RE4 hg19 CCDS11664.1 0.02 -0.174569 GTGxTGG COVERED NOVEL PRKCA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446976.1 14 2.996523 KEEP 40 1 25 19 618 GG 0.993634 0.420782 0 + 3 38 82 1 1 6.474521 11 45 338 112 ENST00000413366.3 0.214286 0.423478 HELZ 9931 __UNKNOWN__ __UNKNOWN__ 17 65170809 65170809 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:65170809A>G ENST00000358691.5 - 13 1597 HELZ_ENST00000580168.1_Intron NM_014877.3 NP_055692 P42694 HELZ_HUMAN helicase with zinc finger NA NA membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) agctactcagaaggctgaggc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D29677 CCDS42374.1 17q24.2 2013-01-18 ENSG00000198265 ENSG00000198265 9931 Zinc fingers, CCCH-type domain containing 16878 protein-coding gene gene with protein product down-regulated in human cancers 606699 NA 10471385, 12691822 Standard NM_014877 NM_014877 NA Approved KIAA0054, HUMORF5, DHRC uc002jfx.4 P42694 OTTHUMG00000179555 ENST00000358691.5:c.1430+3965T>C chr17.hg19:g.65170809A>G NA I6L9H4 hg19 CCDS42374.1 0.02 -0.087712 CAGxAGG UNCOVERED NOVEL HELZ-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000447068.1 2 2.407204 KEEP 0 0 0 8 256 AA 0.99257 0.09898 0 - 3 60 100 0 0 8.778731 7 60 210 25 ENST00000358691.5 0.3 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 65370347 65370347 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:65370347T>C NA NA PSMD12 (7604 upstream) : PITPNC1 (3227 downstream) NA NA NA tcccaaagtgttgggattaca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.65370347T>C NA hg19 0.02 -0.254303 GTGxTGG COVERED NOVEL 0 4 2.407495 KEEP 0 0 0 8 259 TT 0.99257 0.663556 0 5 60 173 0 0 14.068803 22 60 634 57 0.185185 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 66010478 66010478 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:66010478T>C NA NA RP11-855A2.5 (17931 upstream) : KPNA2 (21156 downstream) NA NA NA gccaacatggtgaaaccccat 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.66010478T>C NA hg19 0.02 -0.219229 TGGxGAA COVERED NOVEL 0 15 3.31003 KEEP 3 0 0 11 342 TT 0.99254 0.548763 0 4 49 134 0 0 10.613899 20 60 589 49 0.166667 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 66743258 66743258 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:66743258T>C NA NA RP11-118B18.1 (67511 upstream) : AC011591.1 (19355 downstream) NA NA NA ctgggcaacatagggagaccc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.66743258T>C NA hg19 0.02 -0.306905 ACAxAGG COVERED NOVEL 0 9 3.309907 KEEP 0 0 0 11 337 TT 0.993072 0.794702 0 3 60 100 0 0 7.027021 31 60 868 73 0.088235 0.800245 ABCA8 10351 __UNKNOWN__ __UNKNOWN__ 17 66897700 66897700 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:66897700A>G ENST00000586539.1 - 21 2953 ABCA8_ENST00000269080.2_Intron|ABCA8_ENST00000430352.2_Intron O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 NA NA transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) tgtaatcccaacactttggga 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020629 CCDS11680.1, CCDS74138.1, CCDS74139.1 17q24 2012-03-14 ENSG00000141338 ENSG00000141338 10351 ATP binding cassette transporters / subfamily A 38 protein-coding gene gene with protein product 612505 NA Standard NM_007168 XM_005256938 NA Approved KIAA0822 uc002jhp.3 O94911 ENST00000586539.1:c.2764+1153T>C chr17.hg19:g.66897700A>G NA A1L3U3|C9JQE6|Q86WW0 hg19 0.02 -0.210502 CCAxCAC COVERED NOVEL ABCA8-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000450174.1 5 3.610508 KEEP 2 0 0 12 383 AA 0.993634 0.549368 0 - 3 60 109 0 0 8.526517 19 60 574 60 ENST00000586539.1 0.136364 0.552887 SDK2 54549 __UNKNOWN__ __UNKNOWN__ 17 71365115 71365115 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:71365115T>C ENST00000392650.3 - 37 4981 SDK2_ENST00000388726.3_Intron|SDK2_ENST00000410094.1_Intron NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 NA NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 cacgccactgtactccagcct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040947 CCDS45769.1 17q21.31 2013-02-11 2011-12-09 ENSG00000069188 ENSG00000069188 54549 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 19308 protein-coding gene gene with protein product 607217 sidekick homolog 2 (chicken) NA 12230981, 15213259 Standard NM_019064 NM_001144952 NA Approved FLJ10832, KIAA1514 uc010dfm.3 Q58EX2 OTTHUMG00000152726 ENST00000392650.3:c.4981-383A>G chr17.hg19:g.71365115T>C NA A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214 hg19 CCDS45769.1 0.02 -0.271864 CTGxACT COVERED NOVEL SDK2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327598.2 5 4.512888 KEEP 6 0 0 15 444 TT 0.994391 0.713292 0 - 4 60 123 0 0 9.363029 22 60 619 57 ENST00000392650.3 0.153846 0.717315 KIF19 124602 __UNKNOWN__ __UNKNOWN__ 17 72337228 72337228 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:72337228T>C ENST00000389916.4 + 3 258 NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 NA NA ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462) cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 aatcccagcattttgggaggc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094619 CCDS32718.2 17q25 2007-02-13 ENSG00000196169 ENSG00000196169 124602 Kinesins 26735 protein-coding gene gene with protein product NA 11416179 Standard NM_153209 NM_153209 NA Approved FLJ37300, KIF19A uc031rei.1 Q2TAC6 OTTHUMG00000150694 ENST00000389916.4:c.121-787T>C chr17.hg19:g.72337228T>C NA A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6 hg19 CCDS32718.2 0.02 -0.201708 GCAxTTT COVERED NOVEL KIF19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319644.2 2 2.702186 KEEP 0 0 0 9 265 TT 0.99254 0.486885 0 + 3 60 94 0 0 6.965708 20 60 580 38 ENST00000389916.4 0.130435 0.490544 KCTD2 23510 __UNKNOWN__ __UNKNOWN__ 17 73048983 73048983 __UNKNOWN__ Intron SNP C C T rs576340440 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:73048983C>T ENST00000322444.6 + 3 454 KCTD2_ENST00000581589.1_Intron NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 NA NA protein homooligomerization (GO:0051260) protein complex binding (GO:0032403) kidney(1)|lung(2) 3 all_lung(278;0.226) agtaagactccgtctcaaaaa 0.468 NA C||| 1 0.000199681 8e-04 0 5008 , , NA 19165 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC033329 CCDS32728.1 17q25.2 2013-06-20 2013-06-20 ENSG00000180901 23510 21294 protein-coding gene gene with protein product 613422 potassium channel tetramerisation domain containing 2 NA 12620391 Standard XR_248405 NA Approved KIAA0176 uc002jmp.3 Q14681 ENST00000322444.6:c.449-126C>T chr17.hg19:g.73048983C>T NA hg19 CCDS32728.1 0.02 1.360885 CTCxGTC COVERED NOVEL KCTD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445538.1 10 6.68524 KEEP 0 2 59 43 1433 CC 1 0.997553 0 + 4 60 126 1 0 8.106179 57 60 1815 153 ENST00000322444.6 0.065574 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 73411556 73411556 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:73411556T>C NA NA RNU6-938P (6287 upstream) : Y_RNA (16514 downstream) NA NA NA cgcctgtagttccagctactc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.73411556T>C NA hg19 0.02 -0.122756 AGTxCCA COVERED NOVEL 0 2 2.406739 KEEP 0 0 0 8 234 TT 0.99257 0.194853 0 3 60 87 0 0 7.20161 9 60 252 27 0.25 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 73713425 73713425 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:73713425T>C NA NA SAP30BP (9286 upstream) : ITGB4 (3982 downstream) NA NA NA tgcaccattgtactccagcct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.73713425T>C NA hg19 0.02 1.570401 TTGxACT COVERED NOVEL 0 9 5.415514 KEEP 0 0 0 18 534 TT 0.999859 0.999266 0 4 60 137 0 1 8.980833 65 60 1779 132 0.057971 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 73713453 73713453 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:73713453T>C NA NA SAP30BP (9314 upstream) : ITGB4 (3954 downstream) NA NA NA aagagcaaaattctgtctcaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.73713453T>C NA hg19 0.02 3.836626 AAAxTCT COVERED NOVEL 0 19 8.724159 KEEP 0 0 0 29 890 TT 0.999997 0.999997 0 5 60 173 1 0 10.684119 114 60 3254 219 0.042017 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 73772045 73772045 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:73772045A>G NA NA GALK1 (10253 upstream) : H3F3B (469 downstream) NA NA NA agtggctcacacctgtaatcc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.73772045A>G NA hg19 0.02 -0.27174 CACxCCT COVERED NOVEL 0 6 2.7082 KEEP 0 0 0 9 285 AA 0.99254 0.711964 0 3 60 95 0 0 6.700044 27 60 761 56 0.1 0.717315 EXOC7 23265 __UNKNOWN__ __UNKNOWN__ 17 74088647 74088647 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:74088647A>G ENST00000589210.1 - 7 874 EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000405575.4_Intron|EXOC7_ENST00000607838.1_Intron|EXOC7_ENST00000467929.2_Intron|EXOC7_ENST00000335146.7_Intron|EXOC7_ENST00000411744.2_Intron NM_001013839.2 NP_001013861.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 NA NA cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031) centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) ccgaagtgctaggattacagg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029432 CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1 17q25.3 2013-01-22 ENSG00000182473 ENSG00000182473 23265 23214 protein-coding gene gene with protein product 608163 NA 12477932 Standard NM_015219 NM_001013839 NA Approved EXO70, KIAA1067, YJL085W, Exo70p uc010wsw.2 Q9UPT5 OTTHUMG00000150720 ENST00000589210.1:c.809-1331T>C chr17.hg19:g.74088647A>G NA B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32 hg19 CCDS32738.1 0.02 1.801038 GCTxGGA COVERED NOVEL EXOC7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000319763.2 9 6.616849 KEEP 1 0 0 22 657 AA 0.999879 0.994963 0 - 4 60 140 0 0 9.590099 54 60 1536 120 ENST00000589210.1 0.068966 0.995084 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74286022 74286022 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:74286022A>G ENST00000262765.5 - 5 3480 NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 NA NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 acaagagcaaaactccatctc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 62 58 NA NA NA 17 NA NA 74286022 2203 4300 6503 SO:0001627 intron_variant AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.3300+50T>C chr17.hg19:g.74286022A>G NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 2.061944 CAAxACT COVERED NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 10 6.017332 KEEP 1 0 0 20 641 AA 0.999863 0.989407 0 - 4 60 140 0 0 9.894222 45 60 1339 118 ENST00000262765.5 0.081633 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 74559818 74559818 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:74559818A>T NA NA SNHG16 (2031 upstream) : ST6GALNAC2 (1642 downstream) NA NA NA ttttttttttaacattttata 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.74559818A>T NA hg19 0.02 3.728041 TTTxACA COVERED NOVEL 0 46 2.586697 KEEP 0 16 487 180 5145 AA 1 1 0 11 50 292 1 0 17.54935 135 60 3561 447 0.075342 1 SEPT9 10801 __UNKNOWN__ __UNKNOWN__ 17 75391271 75391271 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:75391271T>C ENST00000423034.2 + 2 363 SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000590294.1_Intron NM_001113493.1 NP_001106965.1 Q9UHD8 SEPT9_HUMAN septin 9 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725) GTP binding (GO:0005525)|GTPase activity (GO:0003924) autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) gctgggattataggtgtgagc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023208 CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1 17q25.3 2014-09-17 2005-01-11 2005-01-12 ENSG00000184640 ENSG00000184640 10801 Septins 7323 protein-coding gene gene with protein product Ov/Br septin 604061 MLL septin-like fusion MSF NA 10339604, 10485469 Standard NM_006640 NM_006640 NA Approved MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1 uc002jts.4 Q9UHD8 ENST00000423034.2:c.56-6870T>C chr17.hg19:g.75391271T>C NA A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4 hg19 CCDS45792.1 0.02 -0.359479 TTAxAGG COVERED NOVEL SEPT9-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436351.1 10 2.406012 KEEP 0 0 0 8 222 TT 0.99257 0.882271 0 + 4 60 132 0 0 9.55813 34 60 940 62 ENST00000423034.2 0.105263 0.888875 TNRC6C 57690 __UNKNOWN__ __UNKNOWN__ 17 76063311 76063311 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:76063311T>C ENST00000588847.1 + 7 3329 TNRC6C_ENST00000541771.1_Intron|TNRC6C_ENST00000588061.1_Intron|TNRC6C_ENST00000544502.1_Intron|TNRC6C_ENST00000301624.4_Intron|TNRC6C_ENST00000335749.4_Intron Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C NA NA embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964) cytosol (GO:0005829) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) cctgtagtcctagctacttga 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834429 CCDS45798.1, CCDS45799.1 17q25.3 2012-10-04 ENSG00000078687 ENSG00000078687 57690 Trinucleotide (CAG) repeat containing 29318 protein-coding gene gene with protein product 610741 NA Standard NM_018996 NM_018996 NA Approved KIAA1582, FLJ20015 uc002juf.2 Q9HCJ0 OTTHUMG00000132642 ENST00000588847.1:c.2603-527T>C chr17.hg19:g.76063311T>C NA G3XAB8|Q86UE5|Q8N3D8|Q96MU9 hg19 CCDS45799.1 0.02 -0.289356 TCCxAGC COVERED NOVEL TNRC6C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255891.4 8 3.309751 KEEP 0 0 0 11 343 TT 0.993072 0.755616 0 + 3 60 95 0 0 6.745364 26 60 750 59 ENST00000588847.1 0.103448 0.760887 TMC6 11322 __UNKNOWN__ __UNKNOWN__ 17 76116520 76116520 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:76116520C>T ENST00000590602.1 - 13 1875 TMC6_ENST00000322933.4_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Intron|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000591436.1_Intron Q7Z403 TMC6_HUMAN transmembrane channel-like 6 NA NA ion transport (GO:0006811) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) ggattacaggcatgagccacc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY057379 CCDS32748.1 17q25.3 2014-09-17 2005-11-10 2005-11-10 ENSG00000141524 ENSG00000141524 11322 18021 protein-coding gene gene with protein product 605828 epidermodysplasia verruciformis 1 EVER1 NA 12426567 Standard NM_007267 NA Approved LAK-4P, EVIN1 uc002juk.2 Q7Z403 OTTHUMG00000177466 ENST00000590602.1:c.1715+213G>A chr17.hg19:g.76116520C>T NA O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5 hg19 CCDS32748.1 0.02 2.999735 AGGxATG COVERED NOVEL TMC6-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437146.1 25 9.029102 KEEP 3 0 0 30 1046 CC 0.999997 0.999992 0 - 6 60 177 0 0 10.66683 96 60 3268 199 ENST00000590602.1 0.058824 0.999995 TMC6 11322 __UNKNOWN__ __UNKNOWN__ 17 76116521 76116521 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:76116521A>G ENST00000590602.1 - 13 1875 TMC6_ENST00000322933.4_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Intron|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000591436.1_Intron Q7Z403 TMC6_HUMAN transmembrane channel-like 6 NA NA ion transport (GO:0006811) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) gattacaggcatgagccacca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY057379 CCDS32748.1 17q25.3 2014-09-17 2005-11-10 2005-11-10 ENSG00000141524 ENSG00000141524 11322 18021 protein-coding gene gene with protein product 605828 epidermodysplasia verruciformis 1 EVER1 NA 12426567 Standard NM_007267 NA Approved LAK-4P, EVIN1 uc002juk.2 Q7Z403 OTTHUMG00000177466 ENST00000590602.1:c.1715+212T>C chr17.hg19:g.76116521A>G NA O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5 hg19 CCDS32748.1 0.02 3.604745 GGCxTGA COVERED NOVEL TMC6-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437146.1 25 9.027086 KEEP 3 0 0 30 927 AA 0.999997 0.999992 0 - 5 60 169 0 0 10.627104 97 60 2823 201 ENST00000590602.1 0.04902 0.999995 TK1 7083 __UNKNOWN__ __UNKNOWN__ 17 76171613 76171613 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:76171613C>A ENST00000301634.7 - 5 628 c.390G>T c.(388-390)agG>agT p.R130S TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Missense_Mutation_p.R130S|TK1_ENST00000588734.1_Missense_Mutation_p.R130S|TK1_ENST00000590862.1_Missense_Mutation_p.R130S NM_003258.4 NP_003249.3 P04183 KITH_HUMAN thymidine kinase 1, soluble 130 NA deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104) cytosol (GO:0005829) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) Trifluridine(DB00432)|Zidovudine(DB00495) GCCTTACCTTCCTCTGGAAGG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 104 93 96 NA NA NA 17 NA NA 76171613 2203 4300 6503 SO:0001583 missense CCDS11754.1 17q23.2-q25.3 2012-10-02 ENSG00000167900 ENSG00000167900 7083 2.7.1.21 11830 protein-coding gene gene with protein product 188300 NA Standard NM_003258 NM_003258 NA Approved uc002juw.2 P04183 OTTHUMG00000150674 ENST00000301634.7:c.390G>T chr17.hg19:g.76171613C>A ENSP00000301634:p.Arg130Ser NA B2RC58|Q969V0|Q9UMG9 hg19 CCDS11754.1 0.02 5.738725 CTTxCTC COVERED . . . . . . . . . . C 15.85 2.956129 0.53293 . . ENSG00000167900 ENST00000301634;ENST00000405273 . . . 4.85 4.85 0.62838 . 0.086506 0.85682 N 0.000000 T 0.79936 0.4532 M 0.87758 2.905 0.80722 D 1 D;D 0.76494 0.999;0.993 D;D 0.72075 0.976;0.946 T 0.82190 -0.0580 9 0.59425 D 0.04 -22.3888 12.3799 0.55301 0.0:0.9108:0.0:0.0892 . 130;130 B5BU32;P04183 .;KITH_HUMAN S 130 . ENSP00000301634:R130S R - 3 2 TK1 73683208 0.999000 0.42202 1.000000 0.80357 0.423000 0.31445 0.623000 0.24447 2.670000 0.90874 0.544000 0.68410 AGG NOVEL TK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319577.1 1 44.542656 KEEP 0 0 0 148 5138 CC 1 1 0 - 89 60 2445 0 0 222.689148 130 60 4233 504 ENST00000301634.7 0.406393 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76533174 76533174 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:76533174G>C ENST00000585328.1 - 19 2975 DNAH17_ENST00000389840.5_Intron NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) gcaggagaatggcttgaaccc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.2850+206C>G chr17.hg19:g.76533174G>C NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 -0.192988 AATxGCT COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 2 2.4079 KEEP 0 0 0 8 286 GG 0.99257 0.454356 0 - 3 34 98 0 0 7.560733 17 60 563 34 ENST00000585328.1 0.15 0.457757 CYTH1 9267 __UNKNOWN__ __UNKNOWN__ 17 76722392 76722392 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:76722392A>G ENST00000591455.1 - 2 71 CYTH1_ENST00000446868.3_Intron|CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000589296.1_Intron Q15438 CYH1_HUMAN cytohesin 1 NA NA establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289) endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 ccaaagtgctaggattacagg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M85169 CCDS32754.1, CCDS42392.2 17q25 2014-05-02 2008-08-14 2008-08-14 ENSG00000108669 ENSG00000108669 9267 Pleckstrin homology (PH) domain containing 9501 protein-coding gene gene with protein product 182115 pleckstrin homology, Sec7 and coiled-coil domains 1 PSCD1 NA 1511013, 8449036, 21628335, 20018626 Standard NM_004762 XM_006722180 NA Approved B2-1, D17S811E, cytohesin-1 uc002jvw.3 Q15438 OTTHUMG00000150253 ENST00000591455.1:c.23-16578T>C chr17.hg19:g.76722392A>G NA A6NFW7|B7Z1T4|Q9P123|Q9P124 hg19 CCDS32754.1 0.02 -0.219273 GCTxGGA COVERED NOVEL CYTH1-002 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000317100.1 8 2.70849 KEEP 1 0 0 9 291 AA 0.99254 0.548763 0 - 3 60 108 0 0 8.426616 19 60 564 59 ENST00000591455.1 0.136364 0.552887 ENDOV 284131 __UNKNOWN__ __UNKNOWN__ 17 78400195 78400195 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:78400195C>T ENST00000517295.2 + 6 672 ENDOV_ENST00000518901.1_Intron|ENDOV_ENST00000520284.1_Intron|ENDOV_ENST00000517795.1_Intron|ENDOV_ENST00000522751.1_Intron|ENDOV_ENST00000518907.1_Intron|ENDOV_ENST00000520367.1_Intron|ENDOV_ENST00000518137.1_Intron|ENDOV_ENST00000323854.5_Intron Q8N8Q3 ENDOV_HUMAN endonuclease V NA NA DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502) cytoplasm (GO:0005737)|nucleolus (GO:0005730) endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566) endometrium(1)|lung(1)|pancreas(1)|prostate(1) 4 acgcctgtaaccccaacactt 0.572 NA Direct reversal of damage NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54172.1, CCDS54173.1, CCDS54174.1 17q25.3 2011-05-05 ENSG00000173818 ENSG00000173818 284131 26640 protein-coding gene gene with protein product NA 12853604 Standard NM_173627 NM_001164638 NA Approved FLJ35220 uc021ueo.1 Q8N8Q3 OTTHUMG00000164638 ENST00000517295.2:c.498+775C>T chr17.hg19:g.78400195C>T NA I3L3S4|Q6P2G2|Q86X99|Q8NAK0 hg19 0.02 -0.061396 TAAxCCC UNCOVERED NOVEL ENDOV-026 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379632.4 3 2.407845 KEEP 0 0 0 8 282 CC 0.99257 0.043461 0 + 3 60 85 0 0 7.854057 4 60 137 19 ENST00000517295.2 0.428571 0.043787 RPTOR 57521 __UNKNOWN__ __UNKNOWN__ 17 78629149 78629149 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:78629149G>C ENST00000306801.3 + 3 710 RPTOR_ENST00000570891.1_Intron|RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000537330.1_Intron NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 NA NA cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929) cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931) 14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156) breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 gcctcccaaagtgctgggatt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11773.1, CCDS54175.1 17q25.3 2013-01-10 ENSG00000141564 57521 WD repeat domain containing 30287 protein-coding gene gene with protein product regulatory associated protein of mTOR 607130 NA 10718198, 12150926 Standard NM_020761 NM_001163034 NA Approved KOG1, Mip1, KIAA1303, raptor uc002jyt.1 Q8N122 ENST00000306801.3:c.348+11539G>C chr17.hg19:g.78629149G>C NA B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3 hg19 CCDS11773.1 0.02 -0.105249 AAAxTGC UNCOVERED NOVEL RPTOR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438125.1 5 2.407961 KEEP 0 0 0 8 293 GG 0.99257 0.138793 0 + 3 60 101 0 0 8.601285 9 60 286 23 ENST00000306801.3 0.25 0.139832 ACTG1 71 __UNKNOWN__ __UNKNOWN__ 17 79479541 79479541 __UNKNOWN__ 5'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:79479541C>A ENST00000575842.1 - 0 266 ACTG1_ENST00000575087.1_Intron|ACTG1_ENST00000573283.1_Intron|ACTG1_ENST00000331925.2_Intron P63261 ACTG_HUMAN actin, gamma 1 NA NA adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214) blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) GAAGGCCGGGCCTTTTACGTA 0.741 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS11782.1 17q25 2010-04-23 2004-05-19 ENSG00000184009 ENSG00000184009 71 144 protein-coding gene gene with protein product 102560 deafness, autosomal dominant 20; deafness, autosomal dominant 26 ACTG, DFNA20, DFNA26 NA 14684684 Standard NM_001614 NM_001614 NA Approved uc002kal.2 P63261 ENST00000575842.1:c.-161G>T chr17.hg19:g.79479541C>A NA A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67 hg19 CCDS11782.1 0.02 1.041546 GGGxCTT COVERED NOVEL ACTG1-012 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439935.2 0 13.830744 KEEP 0 0 0 46 1491 CC 1 0.99994 0 - 23 60 610 0 0 48.905529 74 60 2391 151 ENST00000575842.1 0.237113 0.99994 C17orf70 80233 __UNKNOWN__ __UNKNOWN__ 17 79515524 79515524 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:79515524A>G ENST00000327787.8 - 4 1450 C17orf70_ENST00000425898.2_5'UTR|C17orf70_ENST00000537152.1_Intron Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 NA NA DNA repair (GO:0006281) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) cagcactttgagaggccaagg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008883 CCDS32765.1, CCDS32765.2 17q25.3 2012-05-30 ENSG00000185504 ENSG00000185504 80233 26171 protein-coding gene gene with protein product Fanconi anemia-associated protein, 100kDa 611301 NA 17396147 Standard NM_025161 NM_025161 NA Approved FLJ22175, FAAP100 uc002kaq.3 Q0VG06 OTTHUMG00000167764 ENST00000327787.8:c.1403+707T>C chr17.hg19:g.79515524A>G NA A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8 hg19 CCDS32765.2 0.02 1.906566 TTGxGAG COVERED NOVEL C17orf70-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396170.1 6 3.911995 KEEP 1 0 0 13 411 AA 0.994391 0.974032 0 - 6 60 194 0 0 14.301169 44 60 1263 83 ENST00000327787.8 0.12 0.979526 C17orf70 80233 __UNKNOWN__ __UNKNOWN__ 17 79517432 79517432 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:79517432G>A ENST00000327787.8 - 3 1134 c.1088C>T c.(1087-1089)cCt>cTt p.P363L C17orf70_ENST00000537152.1_Missense_Mutation_p.P212L Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 363 NA DNA repair (GO:0006281) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GAGGTCAGAAGGGGTGCTGTG 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 38 44 42 NA NA NA 17 NA NA 79517432 2203 4299 6502 SO:0001583 missense BC008883 CCDS32765.1, CCDS32765.2 17q25.3 2012-05-30 ENSG00000185504 ENSG00000185504 80233 26171 protein-coding gene gene with protein product Fanconi anemia-associated protein, 100kDa 611301 NA 17396147 Standard NM_025161 NM_025161 NA Approved FLJ22175, FAAP100 uc002kaq.3 Q0VG06 OTTHUMG00000167764 ENST00000327787.8:c.1088C>T chr17.hg19:g.79517432G>A ENSP00000333283:p.Pro363Leu NA A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8 hg19 CCDS32765.2 0.02 12.378772 GAAxGGG COVERED . . . . . . . . . . G 12.13 1.847085 0.32606 . . ENSG00000185504 ENST00000327787;ENST00000537152;ENST00000541246;ENST00000544302 T;T 0.28666 3.4;1.6 4.71 2.56 0.30785 . 0.494497 0.20683 N 0.087610 T 0.23289 0.0563 L 0.38531 1.155 0.27777 N 0.943274 P 0.40731 0.728 P 0.44359 0.447 T 0.04537 -1.0944 10 0.18710 T 0.47 . 6.3451 0.21345 0.0:0.2836:0.4472:0.2693 . 363 Q0VG06 FP100_HUMAN L 363;212;212;212 ENSP00000333283:P363L;ENSP00000440151:P212L ENSP00000333283:P363L P - 2 0 C17orf70 77127874 0.994000 0.37717 0.770000 0.31555 0.661000 0.39034 2.874000 0.48483 2.139000 0.66308 0.655000 0.94253 CCT NOVEL C17orf70-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396170.1 3 69.216781 KEEP 0 0 0 230 8207 GG 1 1 0 - 126 60 3600 0 0 304.511221 322 60 10934 995 ENST00000327787.8 0.28125 1 NPLOC4 55666 __UNKNOWN__ __UNKNOWN__ 17 79530987 79530987 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:79530987A>G ENST00000331134.6 - 16 1885 NPLOC4_ENST00000374747.5_3'UTR|NPLOC4_ENST00000573876.1_Intron|NPLOC4_ENST00000572760.1_Intron NM_017921.2 NP_060391.2 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) NA NA ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025) endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634) zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) cacatctgtaatcccagctac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040932 CCDS45812.1 17q25.3 2012-09-20 ENSG00000182446 ENSG00000182446 55666 18261 protein-coding gene gene with protein product 606590 NA 11574150, 10811609 Standard NM_017921 NA Approved NPL4, FLJ20657, KIAA1499 uc002kas.3 Q8TAT6 OTTHUMG00000177990 ENST00000331134.6:c.1669+1543T>C chr17.hg19:g.79530987A>G NA Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229 hg19 CCDS45812.1 0.02 3.932876 GTAxTCC COVERED NOVEL NPLOC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440140.1 24 12.93059 KEEP 0 0 0 43 1319 AA 1 0.999999 0 - 5 60 178 1 0 11.277761 109 60 3204 238 ENST00000331134.6 0.04386 0.999999 PDE6G 5148 __UNKNOWN__ __UNKNOWN__ 17 79625019 79625019 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:79625019G>C ENST00000571224.1 - 2 54 PDE6G_ENST00000574777.1_Intron P18545 CNRG_HUMAN phosphodiesterase 6G, cGMP-specific, rod, gamma NA NA activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601) photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857) lung(2)|urinary_tract(1) 3 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) Sildenafil(DB00203)|Vardenafil(DB00862) atcacttgaggccaggagttc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(189;38 2147 16440 40945 46567) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11783.1 17q21.1 2014-01-28 ENSG00000185527 5148 3.1.4.17 Phosphodiesterases 8789 protein-coding gene gene with protein product 180073 PDEG NA 2155175 Standard NM_002602 NA Approved RP57 uc002kay.3 P18545 ENST00000571224.1:c.59-4625C>G chr17.hg19:g.79625019G>C NA Q3KP63|Q7Z3U8 hg19 CCDS11783.1 0.02 -0.324577 GAGxCCA COVERED NOVEL PDE6G-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440379.1 8 2.407887 KEEP 0 0 0 8 288 GG 0.99257 0.829507 0 - 3 60 100 0 0 6.911597 34 60 1149 71 ENST00000571224.1 0.081081 0.835716 PDE6G 5148 __UNKNOWN__ __UNKNOWN__ 17 79625043 79625043 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:79625043A>G ENST00000571224.1 - 2 54 PDE6G_ENST00000574777.1_Intron P18545 CNRG_HUMAN phosphodiesterase 6G, cGMP-specific, rod, gamma NA NA activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601) photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857) lung(2)|urinary_tract(1) 3 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) Sildenafil(DB00203)|Vardenafil(DB00862) accagcctggacaacatagtg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(189;38 2147 16440 40945 46567) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11783.1 17q21.1 2014-01-28 ENSG00000185527 5148 3.1.4.17 Phosphodiesterases 8789 protein-coding gene gene with protein product 180073 PDEG NA 2155175 Standard NM_002602 NA Approved RP57 uc002kay.3 P18545 ENST00000571224.1:c.59-4649T>C chr17.hg19:g.79625043A>G NA Q3KP63|Q7Z3U8 hg19 CCDS11783.1 0.02 -0.359573 TGGxCAA COVERED NOVEL PDE6G-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440379.1 10 2.40745 KEEP 0 0 0 8 256 AA 0.99257 0.882271 0 - 5 60 173 0 0 13.323851 32 60 918 77 ENST00000571224.1 0.135135 0.888875 CCDC137 339230 __UNKNOWN__ __UNKNOWN__ 17 79639268 79639268 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:79639268G>C ENST00000329214.8 + 5 1063 NM_199287.2 NP_954981.1 Q6PK04 CC137_HUMAN coiled-coil domain containing 137 NA NA poly(A) RNA binding (GO:0044822) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2) 12 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) gacacggtgggtcacacctgt 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC009369 CCDS42400.1 17q25.3 2008-07-04 ENSG00000185298 339230 33451 protein-coding gene gene with protein product 614271 NA Standard NM_199287 NA Approved MGC16597 uc002kbc.4 Q6PK04 ENST00000329214.8:c.660+83G>C chr17.hg19:g.79639268G>C NA hg19 CCDS42400.1 0.02 1.78972 TGGxTCA COVERED NOVEL CCDC137-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440387.1 7 6.922705 KEEP 0 0 0 23 824 GG 0.999892 0.999754 0 + 4 60 141 0 0 8.986058 82 60 2708 145 ENST00000329214.8 0.046512 0.999862 ASPSCR1 79058 __UNKNOWN__ __UNKNOWN__ 17 79967871 79967871 __UNKNOWN__ Intron SNP C C T rs560311930 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:79967871C>T ENST00000306739.4 + 9 1267 ASPSCR1_ENST00000306729.7_Intron|ASPSCR1_ENST00000580534.1_Intron NM_024083.3 NP_076988.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 NA NA glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324) cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506) ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) ctgcaagctccgcctcccggg 0.493 NA T TFE3 alveolar soft part sarcoma C||| 1 0.000199681 0 0.0014 5008 , , NA 13015 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA Dom yes 17 17q25 79058 alveolar soft part sarcoma chromosome region, candidate 1 M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF324219 CCDS11796.1, CCDS58611.1 17q25 2011-06-28 ENSG00000169696 79058 UBX domain containing 13825 protein-coding gene gene with protein product UBX domain protein 9 606236 NA 11244503, 10506710 Standard NM_024083 NM_024083 NA Approved ASPS, ASPL, UBXD9, UBXN9 uc002kcy.3 Q9BZE9 ENST00000306739.4:c.1170+428C>T chr17.hg19:g.79967871C>T NA A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40 hg19 CCDS11796.1 0.02 2.666088 CTCxGCC COVERED NOVEL ASPSCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441972.1 19 5.116309 KEEP 0 0 0 17 571 CC 0.999366 0.999351 0 + 6 60 162 2 0 9.289027 92 60 2932 166 ENST00000306739.4 0.061224 0.999984 ASPSCR1 79058 __UNKNOWN__ __UNKNOWN__ 17 79968063 79968063 __UNKNOWN__ Intron SNP T T G rs141934232 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:79968063T>G ENST00000306739.4 + 10 1267 ASPSCR1_ENST00000306729.7_Intron|ASPSCR1_ENST00000580534.1_Intron NM_024083.3 NP_076988.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 NA NA glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324) cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506) ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) ctcccaaagttctgggattac 0.512 NA T TFE3 alveolar soft part sarcoma t||| 160 0.0319489 0.1142 0.013 5008 , , NA 9401 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA Dom yes 17 17q25 79058 alveolar soft part sarcoma chromosome region, candidate 1 M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF324219 CCDS11796.1, CCDS58611.1 17q25 2011-06-28 ENSG00000169696 79058 UBX domain containing 13825 protein-coding gene gene with protein product UBX domain protein 9 606236 NA 11244503, 10506710 Standard NM_024083 NM_024083 NA Approved ASPS, ASPL, UBXD9, UBXN9 uc002kcy.3 Q9BZE9 ENST00000306739.4:c.1171-615T>G chr17.hg19:g.79968063T>G NA A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40 hg19 CCDS11796.1 0.02 -0.279881 AGTxCTG COVERED NOVEL ASPSCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441972.1 3 2.407199 KEEP 0 0 0 8 249 TT 0.99257 0.734176 0 + 3 60 97 0 0 6.949126 26 60 722 51 ENST00000306739.4 0.103448 0.739671 CCDC57 284001 __UNKNOWN__ __UNKNOWN__ 17 80108703 80108703 __UNKNOWN__ Intron SNP T T C rs374579387 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:80108703T>C ENST00000389641.4 - 15 2278 CCDC57_ENST00000392347.1_Intron|CCDC57_ENST00000392346.2_Intron Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 NA NA endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) AGGCGCACACTCAGAACCTGA 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC040264 17q25.3 2006-03-08 ENSG00000176155 ENSG00000176155 284001 27564 protein-coding gene gene with protein product NA 12477932 Standard NM_198082 XM_006722279 NA Approved FLJ00130, FLJ23754 uc002kdx.1 Q2TAC2 OTTHUMG00000140396 ENST00000389641.4:c.2242-4974A>G chr17.hg19:g.80108703T>C NA A6NP51|A8MQC7|Q8IWG2|Q8TER3 hg19 0.02 1.649267 CACxCAG COVERED NOVEL CCDC57-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000277182.3 3 3.009174 KEEP 6 0 0 10 317 TT 0.992708 0.990621 0 - 6 40 184 0 0 12.471594 62 60 1824 136 ENST00000389641.4 0.088235 0.997898 CSNK1D 1453 __UNKNOWN__ __UNKNOWN__ 17 80218883 80218883 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:80218883A>G ENST00000314028.6 - 2 537 CSNK1D_ENST00000392334.2_Intron|CSNK1D_ENST00000398519.5_Intron NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta NA NA circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055) centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876) ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321) breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) agagtagctgagactacagat 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11805.1, CCDS11806.1 17q25 2013-01-17 ENSG00000141551 1453 2452 protein-coding gene gene with protein product 600864 NA 7797465 Standard NM_139062 NM_001893 NA Approved HCKID, CKID, CKIdelta uc002kej.3 P48730 ENST00000314028.6:c.187+4678T>C chr17.hg19:g.80218883A>G NA A2I2P2|Q96KZ6|Q9BTN5 hg19 CCDS11805.1 0.02 5.553543 CTGxGAC COVERED NOVEL CSNK1D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000442632.1 23 16.121098 KEEP 0 2 73 79 2566 AA 1 1 0 - 9 60 288 1 0 18.178958 163 60 4948 378 ENST00000314028.6 0.052326 1 OGFOD3 79701 __UNKNOWN__ __UNKNOWN__ 17 80363447 80363447 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:80363447C>T ENST00000313056.5 - 6 640 OGFOD3_ENST00000329197.5_Intron NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 Q6PK18 OGFD3_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 3 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706) NA tcccagcactctgggaggccg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC023602 CCDS11811.1, CCDS11812.1 17q25.3 2012-10-23 2012-10-23 2012-10-23 ENSG00000181396 ENSG00000181396 79701 26174 protein-coding gene gene with protein product chromosome 17 open reading frame 101 C17orf101 NA 12477932 Standard NM_175902 NM_175902 NA Approved FLJ22222 uc002keu.2 Q6PK18 ENST00000313056.5:c.489-191G>A chr17.hg19:g.80363447C>T NA C9JDC8|Q8IZ37|Q9H6J2 hg19 CCDS11811.1 0.02 3.186966 ACTxTGG COVERED NOVEL OGFOD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442895.1 4 5.274794 KEEP 2 2 64 40 1396 CC 1 0.999973 0 - 9 60 248 0 0 16.145884 87 60 2919 170 ENST00000313056.5 0.09375 0.999973 NARF 26502 __UNKNOWN__ __UNKNOWN__ 17 80418084 80418084 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:80418084G>T ENST00000457415.3 + 2 209 NARF_ENST00000345415.7_Intron|NARF_ENST00000390006.4_Intron|NARF_ENST00000309794.11_Intron|NARF_ENST00000581743.1_Intron|NARF_ENST00000412079.2_Intron Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor NA NA lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634) lamin binding (GO:0005521) endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) ctcacgcctggaatcccagca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000438 CCDS32777.1, CCDS42403.1, CCDS42404.1 17q25.3 2011-12-19 ENSG00000141562 ENSG00000141562 26502 29916 protein-coding gene gene with protein product iron-only hydrogenase-like protein 2 605349 NA 10514485, 15667261 Standard NM_031968 NM_031968 NA Approved FLJ10067, DKFZp434G0420, IOP2 uc002kfg.4 Q9UHQ1 ENST00000457415.3:c.108+136G>T chr17.hg19:g.80418084G>T NA A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6 hg19 0.02 3.944244 CTGxAAT COVERED NOVEL NARF-018 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000443578.1 13 10.650742 KEEP 1 4 127 80 2684 GG 1 1 0 + 10 60 282 0 1 16.662631 154 60 5021 338 ENST00000457415.3 0.060976 1 NARF 26502 __UNKNOWN__ __UNKNOWN__ 17 80441097 80441097 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:80441097C>A ENST00000457415.3 + 9 1008 NARF_ENST00000345415.7_Intron|NARF_ENST00000390006.4_Intron|NARF_ENST00000309794.11_Intron|NARF_ENST00000412079.2_Intron|NARF-IT1_ENST00000584012.1_RNA Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor NA NA lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634) lamin binding (GO:0005521) endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) caggaggctgcggcaagagaa 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 17 NA NA 80441097 194 158 352 SO:0001627 intron_variant BC000438 CCDS32777.1, CCDS42403.1, CCDS42404.1 17q25.3 2011-12-19 ENSG00000141562 ENSG00000141562 26502 29916 protein-coding gene gene with protein product iron-only hydrogenase-like protein 2 605349 NA 10514485, 15667261 Standard NM_031968 NM_031968 NA Approved FLJ10067, DKFZp434G0420, IOP2 uc002kfg.4 Q9UHQ1 ENST00000457415.3:c.908-495C>A chr17.hg19:g.80441097C>A NA A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6 hg19 0.02 1.724645 CTGxGGC COVERED . . . . . . . . . . . 1.370 -0.586397 0.03827 . . ENSG00000141562 ENST00000374611;ENST00000457415 . . . 0.603 -0.621 0.11564 . 1.370160 0.06147 N 0.673396 T 0.12390 0.0301 N 0.02539 -0.55 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.23762 -1.0179 8 0.08837 T 0.75 . . . . . 275 Q9UHQ1-2 . E 276;230 . ENSP00000363739:A276E A + 2 0 NARF 78034386 0.004000 0.15560 0.017000 0.16124 0.018000 0.09664 -0.614000 0.05604 -0.316000 0.08690 -0.335000 0.08231 GCG NOVEL NARF-018 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000443578.1 4 3.701657 KEEP 0 1 33 24 825 CC 0.999931 0.973898 0 + 5 60 155 0 0 10.972594 42 60 1403 85 ENST00000457415.3 0.106383 0.973965 FOXK2 3607 __UNKNOWN__ __UNKNOWN__ 17 80544191 80544191 __UNKNOWN__ Intron SNP A A T rs200361741 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:80544191A>T ENST00000335255.5 + 7 1750 NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) cgggggggaaaggaggagagg 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U58196 CCDS11813.1 17q25 2006-12-15 2004-03-09 2004-03-10 ENSG00000141568 ENSG00000141568 3607 Forkhead boxes 6036 protein-coding gene gene with protein product 147685 interleukin enhancer binding factor 1 ILF, ILF1 NA 3260003 Standard NM_181430 NM_004514 NA Approved uc002kfn.3 Q01167 OTTHUMG00000140374 ENST00000335255.5:c.1576+115A>T chr17.hg19:g.80544191A>T NA A6NEP5|Q13622|Q13623|Q13624 hg19 CCDS11813.1 0.02 1.022172 GAAxGGA COVERED NOVEL FOXK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277099.2 10 3.842873 KEEP 42 1 29 23 690 AA 0.997832 0.997636 0 + 6 60 149 0 0 8.943587 63 60 1691 240 ENST00000335255.5 0.086957 0.999804 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 81081995 81081995 __UNKNOWN__ IGR SNP G G A rs374404751 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr17:81081995G>A NA NA AC144831.1 (18135 upstream) : AC139099.4 (9904 downstream) NA NA NA GCTGTGTGCCGGGCGATGCTC 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.81081995G>A NA hg19 0.02 4.561118 GCCxGGC COVERED NOVEL 0 3 4.213443 KEEP 43 0 0 14 472 GG 0.995343 0.995343 0 22 60 669 0 0 51.497332 111 60 3597 341 0.165414 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 108467 108467 __UNKNOWN__ IGR SNP G G A rs112049784 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:108467G>A NA NA RP11-683L23.1 (58227 upstream) : ROCK1P1 (597 downstream) NA NA NA cctacagggtgctttgtgaca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.108467G>A NA hg19 0.02 7.115228 GGTxCTT COVERED NOVEL 0 73 2.897349 KEEP 41 9 283 109 3848 GG 1 1 0 12 52 343 1 0 26.996612 48 60 1566 581 0.2 1 ROCK1P1 727758 __UNKNOWN__ __UNKNOWN__ 18 112283 112283 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:112283T>C ENST00000608049.1 + 0 389 NR_033770.1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NA NA NA TCACCGGGCCTAGACCTAGAA 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 18p11.32 2012-10-04 ENSG00000263006 ENSG00000263006 727758 37832 pseudogene pseudogene NA Standard NR_033770 NA Approved uc002kke.3 OTTHUMG00000177913 ENST00000608049.1: chr18.hg19:g.112283T>C NA hg19 0.02 5.690393 GCCxAGA COVERED NOVEL ROCK1P1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000472417.1 1 21.298032 KEEP 43 1 32 82 2548 TT 1 1 0 + 5 42 174 0 0 13.622078 29 43 809 485 ENST00000608049.1 0.147059 1 YES1 7525 __UNKNOWN__ __UNKNOWN__ 18 731722 731722 __UNKNOWN__ Intron SNP T T C rs568614794 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:731722T>C ENST00000584307.1 - 11 1594 YES1_ENST00000577961.1_Intron|YES1_ENST00000314574.4_Intron P07947 YES_HUMAN YES proto-oncogene 1, Src family tyrosine kinase NA NA blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713) endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) aatcccagcattctgggaggc 0.463 NA T||| 6 0.00119808 0 0 5008 , , NA 15287 0 NA 0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M15990 CCDS11824.1 18p11.31-p11.21 2014-06-26 2014-06-26 ENSG00000176105 ENSG00000176105 7525 SH2 domain containing 12841 protein-coding gene gene with protein product 164880 v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 NA 2983418 Standard NM_005433 NM_005433 NA Approved Yes, c-yes, HsT441 uc002kky.3 P07947 OTTHUMG00000131472 ENST00000584307.1:c.1423+1111A>G chr18.hg19:g.731722T>C NA A6NLB3|D3DUH1 hg19 CCDS11824.1 0.02 -0.271568 GCAxTCT COVERED NOVEL YES1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440827.2 2 3.31063 KEEP 0 0 0 11 372 TT 0.993072 0.712346 0 - 3 60 105 0 0 7.654031 28 60 811 66 ENST00000584307.1 0.096774 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 912639 912639 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:912639A>G NA NA ADCYAP1 (466 upstream) : RP11-672L10.1 (13444 downstream) NA NA NA cgatcctcccacctcagcctc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.912639A>G NA hg19 0.02 -0.350707 CCCxCCT COVERED NOVEL 0 16 4.51357 KEEP 1 0 0 15 465 AA 0.99649 0.874627 0 4 60 124 0 0 8.912966 31 60 902 84 0.114286 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 2626478 2626478 __UNKNOWN__ IGR SNP A A G rs554097329 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:2626478A>G NA NA Y_RNA (5278 upstream) : RNU6-340P (23281 downstream) NA NA NA gctcatgcctataatcccagc 0.443 NA A||| 3 0.000599042 0 0.0029 5008 , , NA 18896 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.2626478A>G NA hg19 0.02 -0.254258 CCTxTAA COVERED NOVEL 0 11 3.00918 KEEP 2 0 0 10 313 AA 0.992708 0.663648 0 3 60 90 0 0 6.451775 22 60 594 61 0.12 0.668523 L3MBTL4 91133 __UNKNOWN__ __UNKNOWN__ 18 6171923 6171923 __UNKNOWN__ Missense_Mutation SNP C C T rs372731255 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:6171923C>T ENST00000284898.6 - 13 1200 c.1000G>A c.(1000-1002)Gac>Aac p.D334N L3MBTL4_ENST00000400105.2_Missense_Mutation_p.D334N|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.D334N|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.D147N|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.D334N NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 334 NA chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TACTTATGGTCCCAACCATCA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(41;748 902 17366 28959 43175) NA 0 C ASN/ASP 0,4396 0,0,2198 82 65 71 NA 1000 4.4 1 18 71 1,8575 0,1,4287 no missense L3MBTL4 NM_173464.3 23 0,1,6485 TT,TC,CC NA 0.0117,0.0,0.0077 benign 334/624 6171923 1,12971 2198 4288 6486 SO:0001583 missense BC039316 CCDS11839.2 18p11.31-p11.23 2013-01-10 ENSG00000154655 ENSG00000154655 91133 Sterile alpha motif (SAM) domain containing 26677 protein-coding gene gene with protein product NA 14702039 Standard NM_173464 NM_173464 NA Approved FLJ35936, HsT1031 uc010dkt.3 Q8NA19 OTTHUMG00000131573 ENST00000284898.6:c.1000G>A chr18.hg19:g.6171923C>T ENSP00000284898:p.Asp334Asn NA A8MTL8|Q8IXS3 hg19 CCDS11839.2 0.02 -0.333356 GGTxCCA COVERED . . . . . . . . . . C 13.85 2.361584 0.41801 0.0 1.17E-4 ENSG00000154655 ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104 T;T;T;T;T 0.50548 0.74;0.74;0.74;0.74;0.74 5.4 4.41 0.53225 . 0.599098 0.16749 N 0.201111 T 0.39279 0.1072 L 0.56769 1.78 0.42123 D 0.991431 B;B 0.18013 0.025;0.014 B;B 0.18263 0.021;0.012 T 0.27571 -1.0070 10 0.23302 T 0.38 . 6.0729 0.19899 0.0:0.8411:0.0:0.1589 . 334;334 Q8NA19;F8W9S8 LMBL4_HUMAN;. N 334;334;334;147;334 ENSP00000382976:D334N;ENSP00000318543:D334N;ENSP00000284898:D334N;ENSP00000444774:D147N;ENSP00000382975:D334N ENSP00000284898:D334N D - 1 0 L3MBTL4 6161923 1.000000 0.71417 1.000000 0.80357 0.964000 0.63967 1.905000 0.39878 2.538000 0.85594 0.650000 0.86243 GAC NOVEL L3MBTL4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254448.2 1 6.320438 KEEP 0 0 0 21 729 CC 0.999869 0.851873 0 - 3 60 95 0 0 6.376361 35 60 1180 84 ENST00000284898.6 0.078947 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 7232149 7232149 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:7232149C>A NA NA LRRC30 (104 upstream) : SNORA48 (68868 downstream) NA NA NA CTGACAATACCTTTGTTAATA 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.7232149C>A NA hg19 0.02 1.607863 TACxTTT COVERED NOVEL 0 1 17.155314 KEEP 0 0 0 57 2042 CC 1 0.976865 0 22 60 630 0 0 57.866363 31 60 1053 142 0.415094 0.976865 TWSG1 57045 __UNKNOWN__ __UNKNOWN__ 18 9345054 9345054 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:9345054A>G ENST00000262120.5 + 2 314 TWSG1_ENST00000581641.1_Intron NM_020648.5 NP_065699.1 Q9GZX9 TWSG1_HUMAN twisted gastrulation BMP signaling modulator 1 NA NA BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2) 10 accatgcccaacccagaacct 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AA486291 CCDS11844.1 18p11.3 2013-10-03 2013-10-03 ENSG00000128791 ENSG00000128791 57045 12429 protein-coding gene gene with protein product 605049 twisted gastrulation homolog 1 (Drosophila) NA 11260715 Standard NM_020648 NA Approved TSG uc002knz.3 Q9GZX9 OTTHUMG00000131597 ENST00000262120.5:c.123+7704A>G chr18.hg19:g.9345054A>G NA B2RE08|D3DUH9|Q8NBI7|Q96K46 hg19 CCDS11844.1 0.02 -0.254284 CCAxCCC COVERED NOVEL TWSG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254480.2 5 2.4048 KEEP 0 0 0 8 226 AA 0.99257 0.663556 0 + 3 60 94 0 0 6.693681 25 60 704 48 ENST00000262120.5 0.107143 0.668523 PPP4R1 9989 __UNKNOWN__ __UNKNOWN__ 18 9587985 9587985 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:9587985A>G ENST00000400556.3 - 6 659 PPP4R1_ENST00000400555.3_Intron|PPP4R1_ENST00000580583.1_Intron|RP11-881L2.1_ENST00000584109.1_RNA NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 NA NA dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165) protein phosphatase 4 complex (GO:0030289) protein phosphatase type 4 regulator activity (GO:0030362) large_intestine(1)|skin(2) 3 aaagtgctggaattacaggca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(188;1232 2082 5061 11948 35994) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF111106 CCDS42412.1, CCDS42413.1 18p11.22 2010-06-18 ENSG00000154845 ENSG00000154845 9989 Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits 9320 protein-coding gene gene with protein product 604908 NA 10026142 Standard NM_005134 NM_001042388 NA Approved PP4R1 uc002koe.2 Q8TF05 OTTHUMG00000137466 ENST00000400556.3:c.585+101T>C chr18.hg19:g.9587985A>G NA Q99774|Q9UNQ7 hg19 CCDS42412.1 0.02 -0.219273 TGGxATT COVERED NOVEL PPP4R1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000268571.1 3 6.304107 KEEP 1 0 0 21 663 AA 0.999869 0.612327 0 - 3 60 101 0 0 7.792192 18 60 530 65 ENST00000400556.3 0.142857 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 11507651 11507651 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:11507651T>C NA NA RP11-712C7.1 (16759 upstream) : NPIPB1P (111856 downstream) NA NA NA ggattacaggtgtgagccacc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.11507651T>C NA hg19 0.02 -0.175419 AGGxGTG COVERED NOVEL 0 6 2.406903 KEEP 4 0 0 8 246 TT 0.99257 0.384528 0 4 60 128 0 0 10.568451 14 60 421 52 0.222222 0.387407 CHMP1B 57132 __UNKNOWN__ __UNKNOWN__ 18 11854013 11854013 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:11854013A>G ENST00000526991.2 + 0 2619 CHMP1B_ENST00000588284.1_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000334049.6_Intron NM_020412.4 NP_065145.2 Q7LBR1 CHM1B_HUMAN charged multivesicular body protein 1B NA NA cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) protein domain specific binding (GO:0019904) endometrium(1)|lung(1)|urinary_tract(1) 3 tagtagagacagggtttcact 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF306520 CCDS54180.1 18p11.21 2011-09-21 2011-09-21 ENSG00000255112 ENSG00000255112 57132 Charged multivesicular body proteins 24287 protein-coding gene gene with protein product 606486 chromatin modifying protein 1B NA 15537668 Standard NM_020412 NM_020412 NA Approved CHMP1.5, C18orf2, Vps46B uc002kqe.3 Q7LBR1 OTTHUMG00000165820 ENST00000526991.2:c.*1903A>G chr18.hg19:g.11854013A>G NA Q96E89|Q9HD41 hg19 CCDS54180.1 0.02 -0.210496 GACxGGG COVERED NOVEL CHMP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386375.2 7 4.212059 KEEP 1 0 0 14 428 AA 0.995343 0.519729 0 + 3 40 94 0 0 7.027671 19 60 572 45 ENST00000526991.2 0.136364 0.522161 ANKRD62 342850 __UNKNOWN__ __UNKNOWN__ 18 12122424 12122424 __UNKNOWN__ Missense_Mutation SNP G G A rs201537483 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:12122424G>A ENST00000587848.2 + 11 1528 c.1363G>A c.(1363-1365)Gta>Ata p.V455I ANKRD62_ENST00000418274.2_3'UTR|ANKRD62_ENST00000314074.8_Missense_Mutation_p.V441I A6NC57 ANR62_HUMAN ankyrin repeat domain 62 455 NA p.V441I(1) breast(2)|haematopoietic_and_lymphoid_tissue(1) 3 TAATATTAGCGTACTACAAAA 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) haematopoietic_and_lymphoid_tissue(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BX648696 CCDS67439.1 18p11.21 2014-01-21 ENSG00000181626 ENSG00000181626 342850 Ankyrin repeat domain containing 35241 protein-coding gene gene with protein product NA Standard XM_001715728 XM_003959949 NA Approved DKFZp779B1634 uc031rhk.1 A6NC57 OTTHUMG00000180673 ENST00000587848.2:c.1363G>A chr18.hg19:g.12122424G>A ENSP00000467740:p.Val455Ile NA hg19 0.02 1.350777 AGCxTAC COVERED . . . . . . . . . . G 5.760 0.324686 0.10900 . . ENSG00000181626 ENST00000314074;ENST00000418274 T;T 0.23754 1.89;1.89 1.74 -0.886 0.10590 . . . . . T 0.19565 0.0470 L 0.43923 1.385 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.23440 -1.0188 9 0.39692 T 0.17 . 8.1685 0.31241 0.223:0.0:0.777:0.0 . 455 A6NC57 ANR62_HUMAN I 441;177 ENSP00000326572:V441I;ENSP00000405628:V177I ENSP00000326572:V441I V + 1 0 ANKRD62 12112424 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 0.615000 0.24329 -0.317000 0.08677 -1.280000 0.01385 GTA NOVEL ANKRD62-003 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000452521.2 1 11.136022 KEEP 0 0 0 37 1290 GG 1 0.997897 0 + 4 60 125 0 0 7.681404 69 60 2231 166 ENST00000587848.2 0.054795 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 12402552 12402552 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:12402552A>G NA NA RNU7-129P (2080 upstream) : SLMO1 (5342 downstream) NA NA NA gaccagcctgagcaactaagc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.12402552A>G NA hg19 0.02 -0.298209 CTGxGCA COVERED NOVEL 0 11 2.6963 KEEP 1 0 0 9 276 AA 0.99254 0.775233 0 3 60 105 0 0 7.697244 27 60 819 62 0.1 0.78106 RP11-757O6.1 0 __UNKNOWN__ __UNKNOWN__ 18 14249404 14249404 __UNKNOWN__ lincRNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:14249404G>A ENST00000580200.1 + 0 217 NA NA NA TTAGGTAAAGGACATAATTCT 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000580200.1: chr18.hg19:g.14249404G>A NA hg19 0.02 -0.14911 AAGxACA COVERED NOVEL RP11-757O6.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000442841.1 1 2.707855 KEEP 6 0 0 9 290 GG 0.99257 0.289832 0 + 3 25 91 0 0 7.091983 14 60 440 33 ENST00000580200.1 0.176471 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15165538 15165538 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:15165538A>G NA NA RP11-805F19.1 (1072 upstream) : RP11-454P7.3 (31459 downstream) NA NA NA gggttttaccacgttggccag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.15165538A>G NA hg19 0.02 -0.306943 ACCxCGT COVERED NOVEL 0 27 3.611362 KEEP 20 0 0 12 390 AA 0.99257 0.7943 0 3 49 92 0 0 6.543749 24 60 699 77 0.111111 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15224434 15224434 __UNKNOWN__ IGR SNP G G A rs62091677 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:15224434G>A NA NA RP11-454P7.3 (26706 upstream) : AP005901.1 (89120 downstream) NA NA NA cagcctcccagggtcaagtta 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.15224434G>A NA hg19 0.02 -0.228078 CCAxGGT UNCOVERED NOVEL 0 7 2.407903 KEEP 16 0 0 8 288 GG 0 0 0 3 33 91 0 0 6.665454 20 44 671 62 0.130435 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15271792 15271792 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:15271792A>G NA NA RP11-454P7.3 (74064 upstream) : AP005901.1 (41762 downstream) NA NA NA AAGATAATTCATAGTGGAGAG 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.15271792A>G NA hg19 0.02 -0.175422 TTCxTAG COVERED NOVEL 0 1 2.407315 KEEP 1 0 0 8 251 AA 0.99257 0.384528 0 11 48 352 0 0 35.653445 6 47 178 40 0.647059 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 18515822 18515822 __UNKNOWN__ IGR SNP C C A rs368131733 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:18515822C>A NA NA None (None upstream) : ROCK1 (11044 downstream) NA NA NA ttgacgcttacggtgcaaaag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.18515822C>A NA hg19 0.02 -0.140354 TTAxGGT COVERED NOVEL 0 6 2.407728 KEEP 3 0 0 8 273 CT 0.995343 0.831824 0 2 60 62 0 0 7.153552 0 0 0 76 1 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 18520285 18520285 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:18520285T>C NA NA None (None upstream) : ROCK1 (6581 downstream) NA NA NA gctcgaaatgtccacttccag 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.18520285T>C NA hg19 0.02 23.573258 ATGxCCA COVERED NOVEL 0 284 18.259618 KEEP 73 17 615 275 8962 TT 1 1 0 13 60 431 0 0 36.610278 39 60 1180 1410 0.25 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 18520302 18520302 __UNKNOWN__ IGR SNP C C G rs554994997 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:18520302C>G NA NA None (None upstream) : ROCK1 (6564 downstream) NA NA NA ccagatactacagaaagagtg 0.378 NA .||| 5 0.000998403 0 0 5008 , , NA 47242 0.005 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.18520302C>G NA hg19 0.02 21.614778 CTAxAGA COVERED NOVEL 0 283 17.841233 KEEP 68 16 576 260 9351 CC 1 1 0 14 60 470 1 0 40.525885 38 60 1292 1298 0.269231 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 18762414 18762414 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:18762414A>G NA NA RNU6-120P (61947 upstream) : RP11-699A5.2 (58221 downstream) NA NA NA gattacagacattagccactg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.18762414A>G NA hg19 0.02 -0.184184 GACxTTA COVERED NOVEL 0 3 3.310337 KEEP 1 0 0 11 356 AA 0.993072 0.420544 0 3 60 97 0 0 7.46102 17 60 503 47 0.15 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 18762416 18762416 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:18762416T>G NA NA RNU6-120P (61949 upstream) : RP11-699A5.2 (58219 downstream) NA NA NA ttacagacattagccactgcg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.18762416T>G NA hg19 0.02 -0.166593 CATxAGC COVERED NOVEL 0 3 3.309379 KEEP 1 0 0 11 325 TT 0.993072 0.384723 0 3 60 101 0 0 8.010656 15 60 398 46 0.166667 0.387407 SNRPD1 6632 __UNKNOWN__ __UNKNOWN__ 18 19208851 19208851 __UNKNOWN__ Intron SNP A A G rs2847117 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:19208851A>G ENST00000582475.1 + 3 305 SNRPD1_ENST00000300413.5_Intron|SNRPD1_ENST00000579618.1_Intron P62314 SMD1_HUMAN small nuclear ribonucleoprotein D1 polypeptide 16kDa NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387) catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) lung(2)|prostate(1) 3 TGGGGGGTGGAGGGAATCTGA 0.328 NA G||| 2968 0.592652 0.9266 0.5202 5008 , , NA 16425 0.4901 NA 0.3678 False NA ,,, NA NA NA 2504 0.5297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36188 CCDS32801.1 18q11.2 2011-10-11 2002-08-29 ENSG00000167088 ENSG00000167088 6632 11158 protein-coding gene gene with protein product 601063 small nuclear ribonucleoprotein D1 polypeptide (16kD) SNRPD NA 7527560, 1701240 Standard NM_006938 NM_006938 NA Approved HsT2456, Sm-D1 uc002ktj.1 P62314 ENST00000582475.1:c.152-172A>G chr18.hg19:g.19208851A>G NA B5BTZ1|P13641 hg19 0.02 -0.18418 TGGxGGG COVERED NOVEL SNRPD1-002 PUTATIVE upstream_ATG|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000444022.1 1 2.406464 KEEP 0 0 0 8 231 AA 0.99257 0.420331 0 + 12 60 391 0 0 38.598017 9 60 251 34 ENST00000582475.1 0.571429 0.423478 RBBP8 5932 __UNKNOWN__ __UNKNOWN__ 18 20585097 20585097 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:20585097A>G ENST00000399722.2 + 16 2638 RBBP8_ENST00000360790.5_Intron|RBBP8_ENST00000327155.5_Intron|RBBP8_ENST00000399725.2_Intron NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 NA NA blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357) nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) ctgcactccaacctaggcaac 0.443 NA Homologous recombination NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF043431 CCDS11874.1, CCDS11875.1 18q11.2 2012-11-05 2001-11-28 ENSG00000101773 ENSG00000101773 5932 9891 protein-coding gene gene with protein product CTBP-interacting protein 604124 retinoblastoma-binding protein 8, Seckel syndrome 2 SCKL2 NA 9721205, 17965729, 21998596 Standard NM_203291 NM_002894 NA Approved CtIP, RIM, COM1 uc002ktw.3 Q99708 OTTHUMG00000131769 ENST00000399722.2:c.2288-1229A>G chr18.hg19:g.20585097A>G NA A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3 hg19 CCDS11875.1 0.02 -0.219269 CCAxCCT COVERED NOVEL RBBP8-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446387.1 4 2.708527 KEEP 0 0 0 9 295 AA 0.99254 0.548763 0 + 4 60 133 0 0 10.67951 18 60 536 50 ENST00000399722.2 0.181818 0.552887 TMEM241 85019 __UNKNOWN__ __UNKNOWN__ 18 20876083 20876083 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:20876083A>G ENST00000383233.3 - 0 2831 TMEM241_ENST00000475185.1_5'UTR|TMEM241_ENST00000450466.2_Intron NM_032933.4 NP_116322.3 Q24JQ0 TM241_HUMAN transmembrane protein 241 NA NA integral component of membrane (GO:0016021) NA gggagggataacattagggga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC082984 CCDS11876.2 18q11.2 2011-11-25 2011-11-25 2011-11-25 ENSG00000134490 ENSG00000134490 85019 31723 protein-coding gene gene with protein product 615430 chromosome 18 open reading frame 45 C18orf45 NA 12477932 Standard NM_032933 NM_032933 NA Approved MGC11386, FLJ44259 uc002kuf.3 Q24JQ0 OTTHUMG00000131771 ENST00000383233.3:c.*1888T>C chr18.hg19:g.20876083A>G NA I0J130|Q6ZTS7|Q6ZW41 hg19 CCDS11876.2 0.02 1.467762 ATAxCAT COVERED NOVEL TMEM241-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254702.3 4 7.653527 KEEP 0 1 33 37 1084 AA 1 0.997163 0 - 6 60 167 1 0 10.845612 60 60 1649 118 ENST00000383233.3 0.090909 0.997163 TMEM241 85019 __UNKNOWN__ __UNKNOWN__ 18 20876121 20876121 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:20876121G>A ENST00000383233.3 - 0 2793 TMEM241_ENST00000475185.1_5'UTR|TMEM241_ENST00000450466.2_Intron NM_032933.4 NP_116322.3 Q24JQ0 TM241_HUMAN transmembrane protein 241 NA NA integral component of membrane (GO:0016021) NA acaggttgatgggtgcagcaa 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC082984 CCDS11876.2 18q11.2 2011-11-25 2011-11-25 2011-11-25 ENSG00000134490 ENSG00000134490 85019 31723 protein-coding gene gene with protein product 615430 chromosome 18 open reading frame 45 C18orf45 NA 12477932 Standard NM_032933 NM_032933 NA Approved MGC11386, FLJ44259 uc002kuf.3 Q24JQ0 OTTHUMG00000131771 ENST00000383233.3:c.*1850C>T chr18.hg19:g.20876121G>A NA I0J130|Q6ZTS7|Q6ZW41 hg19 CCDS11876.2 0.02 1.304516 GATxGGT COVERED NOVEL TMEM241-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254702.3 4 12.038076 KEEP 0 0 0 40 1375 GG 1 0.995083 0 - 5 60 132 0 0 8.019967 58 60 1858 108 ENST00000383233.3 0.079365 0.995084 TMEM241 85019 __UNKNOWN__ __UNKNOWN__ 18 20876181 20876181 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:20876181G>A ENST00000383233.3 - 0 2733 TMEM241_ENST00000475185.1_5'UTR|TMEM241_ENST00000450466.2_Intron NM_032933.4 NP_116322.3 Q24JQ0 TM241_HUMAN transmembrane protein 241 NA NA integral component of membrane (GO:0016021) NA cattctgcacgtgtaccccag 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC082984 CCDS11876.2 18q11.2 2011-11-25 2011-11-25 2011-11-25 ENSG00000134490 ENSG00000134490 85019 31723 protein-coding gene gene with protein product 615430 chromosome 18 open reading frame 45 C18orf45 NA 12477932 Standard NM_032933 NM_032933 NA Approved MGC11386, FLJ44259 uc002kuf.3 Q24JQ0 OTTHUMG00000131771 ENST00000383233.3:c.*1790C>T chr18.hg19:g.20876181G>A NA I0J130|Q6ZTS7|Q6ZW41 hg19 CCDS11876.2 0.02 4.578664 CACxTGT COVERED NOVEL TMEM241-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254702.3 33 4.867942 KEEP 0 5 159 72 2323 GG 1 1 0 - 11 60 334 1 0 21.926644 129 60 4105 320 ENST00000383233.3 0.078571 1 TMEM241 85019 __UNKNOWN__ __UNKNOWN__ 18 20919135 20919135 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:20919135A>G ENST00000383233.3 - 13 818 TMEM241_ENST00000542162.1_Intron|TMEM241_ENST00000450466.2_Intron NM_032933.4 NP_116322.3 Q24JQ0 TM241_HUMAN transmembrane protein 241 NA NA integral component of membrane (GO:0016021) NA gattacaggcatgagccacca 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC082984 CCDS11876.2 18q11.2 2011-11-25 2011-11-25 2011-11-25 ENSG00000134490 ENSG00000134490 85019 31723 protein-coding gene gene with protein product 615430 chromosome 18 open reading frame 45 C18orf45 NA 12477932 Standard NM_032933 NM_032933 NA Approved MGC11386, FLJ44259 uc002kuf.3 Q24JQ0 OTTHUMG00000131771 ENST00000383233.3:c.765+13024T>C chr18.hg19:g.20919135A>G NA I0J130|Q6ZTS7|Q6ZW41 hg19 CCDS11876.2 0.02 -0.210472 GGCxTGA COVERED NOVEL TMEM241-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254702.3 8 3.911783 KEEP 1 0 0 13 402 AA 0.994391 0.519232 0 - 3 60 91 0 0 6.8623 17 60 500 54 ENST00000383233.3 0.15 0.522161 NPC1 4864 __UNKNOWN__ __UNKNOWN__ 18 21112310 21112310 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:21112310T>C ENST00000269228.5 - 25 4309 NPC1_ENST00000412552.2_Intron NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 NA NA adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471) cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888) breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) Tggctgggcatagtggctcac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF002020 CCDS11878.1 18q11.2 2014-06-17 ENSG00000141458 ENSG00000141458 4864 7897 protein-coding gene gene with protein product 607623 NA 8446622 Standard NM_000271 NM_000271 NA Approved uc002kum.4 O15118 OTTHUMG00000131873 ENST00000269228.5:c.3755-62A>G chr18.hg19:g.21112310T>C NA B4DET3|Q9P130 hg19 CCDS11878.1 0.02 1.581916 GCAxAGT COVERED NOVEL NPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254823.2 8 27.380085 KEEP 0 0 0 91 2779 TT 1 0.999881 0 - 4 60 137 0 0 8.587667 82 60 2308 235 ENST00000269228.5 0.046512 0.999881 LAMA3 3909 __UNKNOWN__ __UNKNOWN__ 18 21407425 21407425 __UNKNOWN__ Silent SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:21407425G>C ENST00000313654.9 + 23 3058 c.2817G>C c.(2815-2817)ggG>ggC p.G939G LAMA3_ENST00000399516.3_Silent_p.G939G NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 939 Domain IV 1 (domain IV B). NA cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) ACCTCAGCGGGAGAGAGGTGG 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 54 53 NA NA NA 18 NA NA 21407425 1930 4119 6049 SO:0001819 synonymous_variant L34155 CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1 18q11.2 2013-03-01 2002-08-29 ENSG00000053747 ENSG00000053747 3909 Laminins 6483 protein-coding gene gene with protein product 600805 laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin) LAMNA NA 8077230 Standard NM_000227, NM_198129 NM_000227 NA Approved nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin uc002kuq.3 Q16787 OTTHUMG00000131874 ENST00000313654.9:c.2817G>C chr18.hg19:g.21407425G>C NA B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0 hg19 CCDS42419.1 0.02 2.087985 CGGxAGA COVERED NOVEL LAMA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254824.3 0 18.658625 KEEP 0 0 0 62 2084 GG 1 0.981955 0 + 26 60 880 0 0 83.342171 31 60 957 129 ENST00000313654.9 0.45614 0.981955 ZNF521 25925 __UNKNOWN__ __UNKNOWN__ 18 22796729 22796729 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:22796729T>C ENST00000361524.3 - 4 3722 ZNF521_ENST00000538137.2_Intron|ZNF521_ENST00000584787.1_Intron NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ctgtgttggctaggctggtct 0.517 NA T PAX5 ALL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 18 18q11.2 25925 zinc finger protein 521 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027354 CCDS32806.1 18q11.2 2013-01-08 ENSG00000198795 25925 Zinc fingers, C2H2-type 24605 protein-coding gene gene with protein product early hematopoietic zinc finger 610974 NA 11984006, 14630787 Standard NM_015461 NM_015461 NA Approved EHZF, Evi3 uc002kvk.2 Q96K83 ENST00000361524.3:c.3573+7579A>G chr18.hg19:g.22796729T>C NA A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4 hg19 CCDS32806.1 0.02 -0.175356 GGCxAGG COVERED NOVEL ZNF521-001 KNOWN overlapping_uORF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446781.2 7 3.309375 KEEP 0 0 0 11 332 TT 0.993072 0.384723 0 - 3 60 93 0 0 7.134284 16 60 444 39 ENST00000361524.3 0.157895 0.387407 PSMA8 143471 __UNKNOWN__ __UNKNOWN__ 18 23749196 23749196 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:23749196C>T ENST00000308268.6 + 5 584 PSMA8_ENST00000343848.6_Intron|PSMA8_ENST00000415576.2_Intron NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111) threonine-type endopeptidase activity (GO:0004298) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) cctcccaaagcgctgggatta 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047355 CCDS32808.1, CCDS45842.1, CCDS45843.1 18q11.2 2006-12-18 ENSG00000154611 143471 Proteasome (prosome, macropain) subunits 22985 protein-coding gene gene with protein product NA Standard NM_144662 XM_005258199 NA Approved MGC26605, PSMA7L uc002kvq.3 Q8TAA3 ENST00000308268.6:c.496-9598C>T chr18.hg19:g.23749196C>T NA B0YJ75|Q8IVP4|Q8TA98|Q8TAA2 hg19 CCDS32808.1 0.02 -0.350851 AAGxGCT COVERED NOVEL PSMA8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000446255.1 4 4.514077 KEEP 0 0 0 15 505 CC 0.99649 0.874627 0 + 5 60 138 0 0 10.094133 28 60 921 63 ENST00000308268.6 0.151515 0.877708 DSC1 1823 __UNKNOWN__ __UNKNOWN__ 18 28709226 28709226 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:28709226T>C ENST00000257198.5 - 0 4197 RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 NA NA homophilic cell adhesion (GO:0007156) desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) gagacggagtttcgctcttgt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF293358 CCDS11894.1, CCDS11895.1 18q12.1 2010-01-26 ENSG00000134765 ENSG00000134765 1823 Cadherins / Major cadherins 3035 protein-coding gene gene with protein product 125643 NA 8486729 Standard NM_004948, NM_024421 NM_024421 NA Approved CDHF1 uc002kwn.3 Q08554 OTTHUMG00000131982 ENST00000257198.5:c.*1251A>G chr18.hg19:g.28709226T>C NA Q9HB01 hg19 CCDS11894.1 0.02 1.728115 AGTxTCG COVERED NOVEL DSC1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254946.1 6 5.723442 KEEP 0 1 37 32 945 TT 0.999998 0.992924 0 - 5 60 170 0 0 12.032763 52 60 1538 123 ENST00000257198.5 0.087719 0.992926 DSC1 1823 __UNKNOWN__ __UNKNOWN__ 18 28739252 28739252 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:28739252A>G ENST00000257198.5 - 2 410 RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Intron NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 NA NA homophilic cell adhesion (GO:0007156) desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) tcctgacctcatgatccaccc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF293358 CCDS11894.1, CCDS11895.1 18q12.1 2010-01-26 ENSG00000134765 ENSG00000134765 1823 Cadherins / Major cadherins 3035 protein-coding gene gene with protein product 125643 NA 8486729 Standard NM_004948, NM_024421 NM_024421 NA Approved CDHF1 uc002kwn.3 Q08554 OTTHUMG00000131982 ENST00000257198.5:c.148+155T>C chr18.hg19:g.28739252A>G NA Q9HB01 hg19 CCDS11894.1 0.02 1.234446 CTCxTGA COVERED NOVEL DSC1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254946.1 3 8.122585 KEEP 8 0 0 27 814 AA 0.999931 0.998396 0 - 5 60 141 0 0 8.52343 70 60 2067 117 ENST00000257198.5 0.066667 0.998465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 29270667 29270667 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:29270667T>C NA NA RP11-549B18.1 (3881 upstream) : RN7SKP44 (28188 downstream) NA NA NA ctcctgaccttaggtgatctg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.29270667T>C NA hg19 0.02 -0.157834 CCTxAGG UNCOVERED NOVEL 0 9 2.708269 KEEP 6 0 0 9 281 TT 0 0 0 3 60 94 1 0 7.782588 10 60 276 45 0.230769 0.322807 TRAPPC8 22878 __UNKNOWN__ __UNKNOWN__ 18 29426720 29426720 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:29426720G>A ENST00000283351.4 - 26 4131 c.3796C>T c.(3796-3798)Cgc>Tgc p.R1266C TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R1212C NM_014939.3 NP_055754 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 1266 NA vesicle-mediated transport (GO:0016192) Golgi apparatus (GO:0005794) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCTATAGTGCGAAGAATAACA 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 212 207 209 NA NA NA 18 NA NA 29426720 2203 4300 6503 SO:0001583 missense AB023229 CCDS11901.1 18q12.1 2011-10-10 2010-06-29 2010-06-29 ENSG00000153339 ENSG00000153339 22878 Trafficking protein particle complex 29169 protein-coding gene gene with protein product general sporulation gene 1 homolog (S. cerevisiae) 614136 KIAA1012 KIAA1012 NA 10231032, 11230166 Standard NM_014939 NM_014939 NA Approved HsT2706, TRS85, GSG1 uc002kxc.4 Q9Y2L5 OTTHUMG00000132267 ENST00000283351.4:c.3796C>T chr18.hg19:g.29426720G>A ENSP00000283351:p.Arg1266Cys NA A0JP15|B3KME5|Q9H0L2 hg19 CCDS11901.1 0.02 1.412278 TGCxAAG COVERED . . . . . . . . . . G 12.57 1.977660 0.34848 . . ENSG00000153339 ENST00000283351 T 0.17054 2.3 5.34 5.34 0.76211 . 0.587085 0.19846 N 0.104748 T 0.26448 0.0646 L 0.36672 1.1 0.80722 D 1 D 0.65815 0.995 P 0.56916 0.809 T 0.00525 -1.1689 10 0.56958 D 0.05 . 13.1573 0.59524 0.0:0.0:0.7317:0.2683 . 1266 Q9Y2L5 TPPC8_HUMAN C 1266 ENSP00000283351:R1266C ENSP00000283351:R1266C R - 1 0 TRAPPC8 27680718 1.000000 0.71417 0.981000 0.43875 0.995000 0.86356 5.240000 0.65378 2.505000 0.84491 0.561000 0.74099 CGC NOVEL TRAPPC8-001 KNOWN NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255355.1 3 7.824924 KEEP 0 0 0 26 874 GG 0.999957 0.994379 0 - 20 60 561 0 0 48.058309 46 60 1443 124 ENST00000283351.4 0.30303 0.994422 GAREM 64762 __UNKNOWN__ __UNKNOWN__ 18 29991933 29991933 __UNKNOWN__ Intron SNP G G C rs3980743 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:29991933G>C ENST00000269209.6 - 2 125 GAREM_ENST00000399218.4_Intron Q9H706 GAREM_HUMAN GRB2 associated, regulator of MAPK1 NA NA cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374) plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) NA ACATTAAAACGCTTTGTTGGA 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025263 CCDS11905.1, CCDS56057.1 18q12.1 2012-11-30 2012-11-30 2012-11-30 ENSG00000141441 ENSG00000141441 64762 26136 protein-coding gene gene with protein product Grb2-associated and regulator of Erk/MAPK chromosome 18 open reading frame 11, family with sequence similarity 59, member A C18orf11, FAM59A NA 19509291 Standard NM_022751 NM_001242409 NA Approved FLJ21610 uc002kxl.3 Q9H706 OTTHUMG00000132273 ENST00000269209.6:c.122-18935C>G chr18.hg19:g.29991933G>C NA Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5 hg19 CCDS56057.1 0.02 1.678078 AACxCTT COVERED NOVEL GAREM-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255365.1 1 6.958286 KEEP 0 1 34 35 1224 GG 0.999999 0.999487 0 - 9 40 287 0 0 20.83868 70 60 2330 177 ENST00000269209.6 0.113924 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 33520457 33520457 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:33520457A>G NA NA MIR3929 (6352 upstream) : RP11-905K4.1 (11308 downstream) NA NA NA tacagtgctgagattacaggg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.33520457A>G NA hg19 0.02 -0.219266 CTGxGAT COVERED NOVEL 0 4 2.407548 KEEP 0 0 0 8 259 AA 0.99257 0.54878 0 3 60 95 0 0 7.127339 19 60 564 50 0.136364 0.552887 ELP2 55250 __UNKNOWN__ __UNKNOWN__ 18 33750288 33750288 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:33750288G>T ENST00000350494.6 + 19 2209 ELP2_ENST00000542824.1_Intron|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000358232.6_Intron|ELP2_ENST00000442325.2_Intron|ELP2_ENST00000351393.6_Intron NM_001242876.1 NP_001229805.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 NA NA chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023) NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 ttttttttttgttttgagatg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001741 CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1 18q12.1 2013-01-10 2012-08-08 2007-04-20 ENSG00000134759 ENSG00000134759 55250 Elongator acetyltransferase complex subunits, WD repeat domain containing 18248 protein-coding gene gene with protein product signal transducer and activator of transcription 3 interacting protein 1, elongation protein 2 homolog (S. cerevisiae) STATIP1 NA 11714725, 10954736 Standard NM_018255 NM_001242875 NA Approved FLJ10879, StIP uc002kzk.2 Q6IA86 OTTHUMG00000132589 ENST00000350494.6:c.2195+129G>T chr18.hg19:g.33750288G>T NA A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81 hg19 CCDS56066.1 0.02 -0.166659 TTTxTTT COVERED NOVEL ELP2-005 KNOWN basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000396667.1 6 2.343281 KEEP 0 0 0 8 231 GG 0.99257 0.351317 0 + 3 60 88 0 2 6.710598 15 60 483 42 ENST00000350494.6 0.166667 0.353947 KIAA1328 57536 __UNKNOWN__ __UNKNOWN__ 18 34475811 34475811 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:34475811C>T ENST00000591619.1 + 5 1222 KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000280020.5_Intron|KIAA1328_ENST00000435985.2_Intron Q86T90 K1328_HUMAN KIAA1328 NA NA central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) gcagagagatctctctgtcac 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037749 CCDS45855.1 18q12.2 2011-12-12 ENSG00000150477 ENSG00000150477 57536 29248 protein-coding gene gene with protein product NA 10718198 Standard NM_020776 XM_005258317 NA Approved uc002kzz.3 Q86T90 ENST00000591619.1:c.436+10176C>T chr18.hg19:g.34475811C>T NA Q05DL0|Q49AG6|Q9P2L8 hg19 0.02 4.229137 GATxTCT COVERED NOVEL KIAA1328-005 KNOWN NMD_exception|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000440459.1 4 20.466525 KEEP 0 0 0 68 2455 CC 1 1 0 + 19 60 552 0 0 38.906462 142 60 4840 344 ENST00000591619.1 0.118012 1 CELF4 56853 __UNKNOWN__ __UNKNOWN__ 18 34844780 34844780 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:34844780A>C ENST00000591282.1 - 10 1165 CELF4_ENST00000412753.1_Intron|CELF4_ENST00000601019.1_Intron|CELF4_ENST00000591287.1_Intron|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000603232.1_Intron|CELF4_ENST00000420428.2_Intron|CELF4_ENST00000361795.5_Intron|CELF4_ENST00000588597.1_Intron Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 NA NA alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381) cytoplasm (GO:0005737)|nucleus (GO:0005634) BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 AAGCAGGAAGAAAGAGAGAGA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 19 21 20 NA NA NA 18 NA NA 34844780 692 1591 2283 SO:0001627 intron_variant AF248651 CCDS32818.1, CCDS45857.1, CCDS45858.1 18q12 2013-02-12 2010-02-19 2010-02-19 56853 RNA binding motif (RRM) containing 14015 protein-coding gene gene with protein product 612679 Bruno (Drosophila) -like 4, RNA binding protein, bruno-like 4, RNA binding protein (Drosophila) BRUNOL4 NA 10893231 Standard NM_020180 NM_020180 NA Approved uc002lae.2 Q9BZC1 ENST00000591282.1:c.1166-60T>G chr18.hg19:g.34844780A>C NA Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85 hg19 CCDS32818.1 0.02 1.699035 AAGxAAG COVERED NOVEL CELF4-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000440892.1 1 11.131441 KEEP 0 0 0 37 1104 AA 1 0.999835 0 - 17 60 574 0 0 46.759623 71 60 2000 169 ENST00000591282.1 0.193182 0.999835 PIK3C3 5289 __UNKNOWN__ __UNKNOWN__ 18 39666017 39666017 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:39666017A>G ENST00000262039.4 + 0 7666 PIK3C3_ENST00000398870.3_3'UTR NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 NA NA autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224) axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 cctgggaggcagaggttgcag 0.468 NA TSP Lung(28;0.18) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(37;552 1060 2683 16430 37914) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z46973 CCDS11920.1 18q12.3 2012-07-13 2012-07-13 ENSG00000078142 ENSG00000078142 5289 2.7.1.137 8974 protein-coding gene gene with protein product 602609 phosphoinositide-3-kinase, class 3 NA 7628435 Standard NM_002647 NM_002647 NA Approved Vps34 uc002lap.3 Q8NEB9 OTTHUMG00000132593 ENST00000262039.4:c.*4916A>G chr18.hg19:g.39666017A>G NA Q15134 hg19 CCDS11920.1 0.02 -0.350395 GGCxGAG COVERED NOVEL PIK3C3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255804.1 3 3.033543 KEEP 0 1 25 19 563 AA 0.999863 0.877587 0 + 4 60 112 0 0 7.612788 33 60 923 69 ENST00000262039.4 0.108108 0.877708 SETBP1 26040 __UNKNOWN__ __UNKNOWN__ 18 42291403 42291403 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:42291403C>T ENST00000282030.5 + 2 782 SETBP1_ENST00000426838.4_Intron NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 NA NA nucleus (GO:0005634) DNA binding (GO:0003677) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) cttccttcctcccttccttcc 0.502 NA Schinzel-Giedion syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database SGC, Schinzel-Giedion Midface Retraction syndrome AB022660 CCDS11923.2, CCDS45859.1 18q21.1 2008-08-01 ENSG00000152217 ENSG00000152217 26040 15573 protein-coding gene gene with protein product 611060 NA 11231286 Standard NM_001130110 NM_015559 NA Approved SEB, KIAA0437 uc010dni.3 Q9Y6X0 OTTHUMG00000132613 ENST00000282030.5:c.486+9606C>T chr18.hg19:g.42291403C>T NA A6H8W5|Q6P6C3|Q9UEF3 hg19 CCDS11923.2 0.02 -0.139917 CCTxCCT COVERED NOVEL SETBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255854.4 6 3.009239 KEEP 0 0 0 10 338 CC 0.992708 0.259062 0 + 3 60 91 1 0 7.378559 11 60 335 36 ENST00000282030.5 0.214286 0.260965 SLC14A2 8170 __UNKNOWN__ __UNKNOWN__ 18 43262951 43262951 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:43262951T>C ENST00000255226.6 + 0 4046 SLC14A2_ENST00000589658.1_3'UTR|RP11-116O18.3_ENST00000589510.1_RNA NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 NA NA transmembrane transport (GO:0055085)|urea transport (GO:0015840) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 cccagctacttgggaggctga 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X96969 CCDS11924.1 18q12.1-q21.1 2013-05-22 ENSG00000132874 ENSG00000132874 8170 Solute carriers 10919 protein-coding gene gene with protein product 601611 NA 8647271 Standard NM_007163 NA Approved HUT2, UT2 uc010dnj.3 Q15849 OTTHUMG00000132616 ENST00000255226.6:c.*467T>C chr18.hg19:g.43262951T>C NA A8K8Q7|Q2TBD6|Q96PH5 hg19 CCDS11924.1 0.02 -0.157775 ACTxGGG COVERED NOVEL SLC14A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255858.1 1 2.707115 KEEP 1 0 0 9 255 TT 0.992708 0.351366 0 + 4 60 113 0 0 9.070012 14 60 366 32 ENST00000255226.6 0.222222 0.353947 SLC14A2 8170 __UNKNOWN__ __UNKNOWN__ 18 43263008 43263008 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:43263008A>G ENST00000255226.6 + 0 4103 SLC14A2_ENST00000589658.1_3'UTR|RP11-116O18.3_ENST00000589510.1_RNA NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 NA NA transmembrane transport (GO:0055085)|urea transport (GO:0015840) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 gcagtgagccaagatcacgcc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X96969 CCDS11924.1 18q12.1-q21.1 2013-05-22 ENSG00000132874 ENSG00000132874 8170 Solute carriers 10919 protein-coding gene gene with protein product 601611 NA 8647271 Standard NM_007163 NA Approved HUT2, UT2 uc010dnj.3 Q15849 OTTHUMG00000132616 ENST00000255226.6:c.*524A>G chr18.hg19:g.43263008A>G NA A8K8Q7|Q2TBD6|Q96PH5 hg19 CCDS11924.1 0.02 1.815479 GCCxAGA COVERED NOVEL SLC14A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255858.1 4 2.340658 KEEP 1 1 32 19 579 AA 0.999863 0.973832 0 + 6 60 180 0 0 13.072586 41 60 1188 97 ENST00000255226.6 0.12766 0.973965 ATP5A1 498 __UNKNOWN__ __UNKNOWN__ 18 43666861 43666861 __UNKNOWN__ Intron SNP T T C rs8095031 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:43666861T>C ENST00000398752.6 - 8 1298 ATP5A1_ENST00000590665.1_Intron|ATP5A1_ENST00000593152.2_Intron|ATP5A1_ENST00000282050.2_Intron NM_001001935.2|NM_004046.5 NP_001001935.1|NP_004037.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle NA NA ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261) ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857) breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 aaattttccataataaaaagt 0.308 NA T||| 1583 0.316094 0.3676 0.317 5008 , , NA 19708 0.0635 NA 0.3917 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D14710 CCDS11927.1, CCDS58620.1, CCDS59315.1 18q21 2012-10-12 2006-01-13 ENSG00000152234 ENSG00000152234 498 3.6.1.14 Mitochondrial respiratory chain complex / Complex V, ATPases / F-type 823 protein-coding gene gene with protein product 164360 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2, ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle ATP5AL2, ATPM NA 1830491 Standard NM_004046 NM_001257334 NA Approved ATP5A, hATP1, OMR, ORM uc002lbr.2 P25705 OTTHUMG00000132637 ENST00000398752.6:c.1176+112A>G chr18.hg19:g.43666861T>C NA A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8 hg19 CCDS11927.1 0.02 -0.192892 CCAxAAT COVERED NOVEL ATP5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255884.1 1 5.413389 KEEP 0 0 0 18 507 TT 0.999859 0.457692 0 - 3 60 96 0 0 7.227707 19 60 514 47 ENST00000398752.6 0.136364 0.457757 KATNAL2 83473 __UNKNOWN__ __UNKNOWN__ 18 44547465 44547465 __UNKNOWN__ Intron SNP T T C rs368079834|rs77925800 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:44547465T>C ENST00000592005.1 + 3 724 KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron katanin p60 subunit A-like 2 NA NA central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 tgtgtgtgtgtgcgcgcgcgc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034999 CCDS32828.1 18q21.1 2010-04-21 ENSG00000167216 ENSG00000167216 83473 ATPases / AAA-type 25387 protein-coding gene gene with protein product 614697 NA 12477932 Standard NM_031303 NM_031303 NA Approved MGC33211, DKFZP667C165 uc002lco.3 Q8IYT4 ENST00000592005.1:c.51+20579T>C chr18.hg19:g.44547465T>C NA hg19 0.02 -0.18411 GTGxGCG COVERED NOVEL KATNAL2-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446324.2 7 2.407314 KEEP 2 0 0 8 252 TT 0.99257 0.420331 0 + 3 48 100 1 0 7.910949 15 60 408 43 ENST00000592005.1 0.166667 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 47817956 47817956 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:47817956T>C NA NA CXXC1 (3282 upstream) : RP11-1030E3.1 (10603 downstream) NA NA NA ttaggccgggtgcagtggctc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.47817956T>C NA hg19 0.02 -0.236783 GGGxGCA COVERED NOVEL 0 6 3.303745 KEEP 5 0 0 11 314 TT 0.992708 0.607941 0 3 60 104 0 0 7.905593 21 60 621 59 0.125 0.612407 DCC 1630 __UNKNOWN__ __UNKNOWN__ 18 50319190 50319190 __UNKNOWN__ Intron SNP A A G rs200979272 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:50319190A>G ENST00000442544.2 + 2 1028 DCC_ENST00000412726.1_Intron NM_005215.3 NP_005206.2 P43146 DCC_HUMAN DCC netrin 1 receptor NA NA anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965) axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) attcaattccattctattcca 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X76132 CCDS11952.1 18q21.1 2014-06-20 2014-06-20 ENSG00000187323 ENSG00000187323 1630 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 2701 protein-coding gene gene with protein product immunoglobulin superfamily, DCC subclass, member 1 120470 deleted in colorectal carcinoma NA 2294591, 24400119 Standard NM_005215 NM_005215 NA Approved IGDCC1, NTN1R1 uc002lfe.2 P43146 OTTHUMG00000132698 ENST00000442544.2:c.412+40446A>G chr18.hg19:g.50319190A>G NA hg19 CCDS11952.1 0.02 -0.254358 TCCxTTC COVERED NOVEL DCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255996.3 28 3.04421 KEEP 11 1 34 22 696 AT 0.999869 0.760787 0 + 4 60 126 0 0 13.421126 1 31 30 95 ENST00000442544.2 0.8 0.760887 DCC 1630 __UNKNOWN__ __UNKNOWN__ 18 50319205 50319205 __UNKNOWN__ Intron SNP A A T rs200378447 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:50319205A>T ENST00000442544.2 + 2 1028 DCC_ENST00000412726.1_Intron NM_005215.3 NP_005206.2 P43146 DCC_HUMAN DCC netrin 1 receptor NA NA anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965) axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) attccattctattccattcca 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X76132 CCDS11952.1 18q21.1 2014-06-20 2014-06-20 ENSG00000187323 ENSG00000187323 1630 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 2701 protein-coding gene gene with protein product immunoglobulin superfamily, DCC subclass, member 1 120470 deleted in colorectal carcinoma NA 2294591, 24400119 Standard NM_005215 NM_005215 NA Approved IGDCC1, NTN1R1 uc002lfe.2 P43146 OTTHUMG00000132698 ENST00000442544.2:c.412+40461A>T chr18.hg19:g.50319205A>T NA hg19 CCDS11952.1 0.02 -0.24556 TCTxTTC COVERED NOVEL DCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255996.3 23 5.717231 KEEP 8 0 0 19 594 AG 0.999366 0.640941 0 + 3 60 90 0 0 9.454034 1 18 27 72 ENST00000442544.2 0.75 0.641347 DCC 1630 __UNKNOWN__ __UNKNOWN__ 18 50319208 50319208 __UNKNOWN__ Intron SNP C C T rs200912519 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:50319208C>T ENST00000442544.2 + 2 1028 DCC_ENST00000412726.1_Intron NM_005215.3 NP_005206.2 P43146 DCC_HUMAN DCC netrin 1 receptor NA NA anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965) axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ccattctattccattccattc 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X76132 CCDS11952.1 18q21.1 2014-06-20 2014-06-20 ENSG00000187323 ENSG00000187323 1630 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 2701 protein-coding gene gene with protein product immunoglobulin superfamily, DCC subclass, member 1 120470 deleted in colorectal carcinoma NA 2294591, 24400119 Standard NM_005215 NM_005215 NA Approved IGDCC1, NTN1R1 uc002lfe.2 P43146 OTTHUMG00000132698 ENST00000442544.2:c.412+40464C>T chr18.hg19:g.50319208C>T NA hg19 CCDS11952.1 0.02 -0.245554 ATTxCAT COVERED NOVEL DCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255996.3 21 5.417283 KEEP 7 0 0 18 610 CC 0.997832 0.639957 0 + 3 60 89 0 0 9.353304 1 18 33 70 ENST00000442544.2 0.75 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 52711590 52711590 __UNKNOWN__ IGR SNP G G A rs148146764 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:52711590G>A NA NA AC098848.1 (42961 upstream) : CTD-2171N6.1 (61544 downstream) NA NA NA atgctggcaaggctgtggaga 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.52711590G>A NA hg19 0.02 -0.21054 CAAxGCT COVERED NOVEL 0 10 3.611796 KEEP 7 0 0 12 421 GG 0.992708 0.518353 0 3 60 94 0 0 7.672658 11 60 376 67 0.214286 0.522161 CTD-2008L17.2 0 __UNKNOWN__ __UNKNOWN__ 18 53830888 53830888 __UNKNOWN__ lincRNA SNP T T C rs28375478 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:53830888T>C ENST00000382897.2 - 0 698 NA NA NA cacctgttattccagcacttt 0.423 NA C||| 1308 0.261182 0.298 0.379 5008 , , NA 15704 0.0466 NA 0.3907 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000382897.2: chr18.hg19:g.53830888T>C NA hg19 0.02 -0.192949 TATxCCA COVERED NOVEL CTD-2008L17.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000449414.1 6 2.407541 KEEP 0 0 0 8 263 TT 0.99257 0.454356 0 - 3 60 87 0 0 6.611058 15 60 450 46 ENST00000382897.2 0.166667 0.457757 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55154529 55154529 __UNKNOWN__ 3'UTR SNP G G A rs563814 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:55154529G>A ENST00000491143.2 + 0 12121 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ATATATCACCGTATGTGAGAG 0.348 NA A||| 2254 0.45008 0.5136 0.5101 5008 , , NA 21779 0.4821 NA 0.334 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*10574G>A chr18.hg19:g.55154529G>A NA hg19 CCDS42440.1 0.02 -0.201756 ACCxTAT COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 0 6.921712 KEEP 0 0 0 23 754 GG 0.999892 0.490492 0 + 3 60 94 0 0 6.965083 20 60 661 58 ENST00000491143.2 0.130435 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 57566113 57566113 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:57566113A>T NA NA RP11-824M15.3 (74420 upstream) : PMAIP1 (1066 downstream) NA NA NA cctcccaaagagctgggatta 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.57566113A>T NA hg19 0.02 -0.07016 AAGxGCT UNCOVERED NOVEL 0 1 2.407488 KEEP 0 0 0 8 257 AA 0.99257 0.053735 0 3 60 83 0 0 7.432322 5 60 149 21 0.375 0.054137 KDSR 2531 __UNKNOWN__ __UNKNOWN__ 18 61028858 61028858 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:61028858A>G ENST00000406396.3 - 2 590 KDSR_ENST00000326575.5_Intron NM_002035.2 NP_002026.1 Q06136 KDSR_HUMAN 3-ketodihydrosphingosine reductase NA NA 3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 3-dehydrosphinganine reductase activity (GO:0047560) endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 9 gaccagcctgaccaacatggt 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11982.1 18q21 2011-09-20 2008-02-20 2008-02-20 ENSG00000119537 ENSG00000119537 2531 1.1.1.102 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 4021 protein-coding gene gene with protein product 3-dehydrosphinganine reductase, short chain dehydrogenase/reductase family 35C, member 1 136440 follicular lymphoma variant translocation 1 FVT1 NA 8417785, 15328338, 17420465, 19027726 Standard NM_002035 NA Approved DHSR, SDR35C1 uc010dpw.3 Q06136 OTTHUMG00000132792 ENST00000406396.3:c.198+1153T>C chr18.hg19:g.61028858A>G NA B2R5Y1|B4DMX0 hg19 CCDS11982.1 0.02 -0.078859 CTGxCCA UNCOVERED NOVEL KDSR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256200.2 4 2.406919 KEEP 5 0 0 8 244 AA 0 0 0 - 3 48 94 0 0 8.53265 5 60 146 27 ENST00000406396.3 0.375 0.077336 SERPINB10 5273 __UNKNOWN__ __UNKNOWN__ 18 61603015 61603015 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:61603015A>G ENST00000238508.3 + 0 1792 AC009802.1_ENST00000599868.1_Intron NM_005024.1 NP_005015.1 P48595 SPB10_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 10 NA NA negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634) serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) gtgcactccaacctgggcaac 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U35459 CCDS11990.1 18q21.3 2014-02-18 2005-08-18 ENSG00000242550 ENSG00000242550 5273 Serine (or cysteine) peptidase inhibitors 8942 protein-coding gene gene with protein product protease inhibitor 10 (ovalbumin type, bomapin) 602058 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10 PI10 NA 9268635, 10871600, 24172014 Standard NM_005024 NM_005024 NA Approved bomapin P48595 OTTHUMG00000060594 ENST00000238508.3:c.*539A>G chr18.hg19:g.61603015A>G NA Q4VAX4|Q4VAX7 hg19 CCDS11990.1 0.02 -0.280647 CCAxCCT COVERED NOVEL SERPINB10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134012.3 6 5.717485 KEEP 0 0 0 19 616 AA 0.99986 0.76078 0 + 3 60 100 0 0 7.244356 26 60 769 69 ENST00000238508.3 0.103448 0.760887 ZADH2 284273 __UNKNOWN__ __UNKNOWN__ 18 72907864 72907864 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:72907864T>G ENST00000322342.3 - 0 6930 NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 NA NA mitochondrion (GO:0005739)|peroxisome (GO:0005777) oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270) endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) gcaagaccctttctcaaaaaa 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC033780 CCDS12008.1 18q22.3 2008-05-29 2008-05-29 ENSG00000180011 ENSG00000180011 284273 28697 protein-coding gene gene with protein product NA 12477932 Standard NM_175907 NM_175907 NA Approved MGC45594 uc002llx.3 Q8N4Q0 OTTHUMG00000132858 ENST00000322342.3:c.*5507A>C chr18.hg19:g.72907864T>G NA A8KA15|B4DZ91 hg19 CCDS12008.1 0.02 -0.341932 CCTxTCT COVERED NOVEL ZADH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256332.1 7 2.239078 KEEP 0 1 33 19 566 TT 0.999863 0.877587 0 - 3 60 98 0 0 6.712623 34 60 943 76 ENST00000322342.3 0.081081 0.877708 ZNF516 9658 __UNKNOWN__ __UNKNOWN__ 18 74072838 74072838 __UNKNOWN__ 3'UTR SNP T T G rs560171409|rs140914067 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:74072838T>G ENST00000443185.2 - 0 5424 ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) gtgtgtgtgtttgtgtgtgtg 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D86975 CCDS74234.1 18q23 2013-01-08 ENSG00000101493 9658 Zinc fingers, C2H2-type 28990 protein-coding gene gene with protein product 615114 NA 9039502 Standard NM_014643 NM_014643 NA Approved HsT287, KIAA0222 uc021ulp.1 Q92618 ENST00000443185.2:c.*1615A>C chr18.hg19:g.74072838T>G NA hg19 0.02 -0.22797 TGTxTGT COVERED NOVEL ZNF516-201 KNOWN basic|appris_principal|exp_conf protein_coding NA protein_coding 7 2.740142 KEEP 0 1 34 21 605 TT 0.999879 0.58286 0 - 3 60 99 0 0 7.406173 21 60 575 62 ENST00000443185.2 0.125 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 74465584 74465584 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr18:74465584A>G NA NA AC034110.1 (59992 upstream) : RP11-162A12.2 (41103 downstream) NA NA NA gtgagccaccacgcccagccA 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.74465584A>G NA hg19 0.02 -0.157872 ACCxCGC COVERED NOVEL 0 4 2.406973 KEEP 0 0 0 8 241 AA 0.99257 0.320408 0 3 60 101 0 0 8.178897 13 60 384 38 0.1875 0.322807 MUM1 84939 __UNKNOWN__ __UNKNOWN__ 19 1376399 1376399 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:1376399T>C ENST00000415183.3 + 14 2261 MUM1_ENST00000591453.1_Intron|MUM1_ENST00000344663.3_Intron|MUM1_ENST00000591806.1_Intron|MUM1_ENST00000311401.5_Intron Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 NA NA chromatin organization (GO:0006325)|DNA repair (GO:0006281) nucleus (GO:0005634) nucleosome binding (GO:0031491) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) gtgatccgcctgcctcggcct 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075241 CCDS12062.1 19p13.3 2008-02-05 ENSG00000160953 84939 29641 protein-coding gene gene with protein product NA 11042152, 7644523 Standard NM_032853 NM_032853 NA Approved MUM-1 uc002lrz.2 Q2TAK8 ENST00000415183.3:c.2197-119T>C chr19.hg19:g.1376399T>C NA A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67 hg19 0.02 -0.385737 GCCxGCC COVERED NOVEL MUM1-016 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000449510.1 1 6.620128 KEEP 0 0 0 22 691 TT 0.999879 0.918059 0 + 4 60 130 1 0 9.265049 36 60 1025 84 ENST00000415183.3 0.1 0.918171 ONECUT3 390874 __UNKNOWN__ __UNKNOWN__ 19 1778362 1778362 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:1778362A>C ENST00000382349.4 + 0 5693 NM_001080488.1 NP_001073957.1 O60422 ONEC3_HUMAN one cut homeobox 3 NA NA endocrine pancreas development (GO:0031018) nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) NA Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ctcggcctccaaaagtgctag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AC004755 CCDS45900.1 19p13.3 2012-03-09 2007-07-16 ENSG00000205922 390874 Homeoboxes / CUT class 13399 protein-coding gene gene with protein product 611294 one cut domain, family member 3 NA 9915796 Standard NM_001080488 NA Approved uc010xgr.2 O60422 ENST00000382349.4:c.*2918A>C chr19.hg19:g.1778362A>C NA A8MZM7 hg19 CCDS45900.1 0.02 -0.263014 TCCxAAA COVERED NOVEL ONECUT3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418499.1 4 4.512815 KEEP 0 0 0 15 456 AA 0.99649 0.714798 0 + 4 60 123 1 0 9.158931 25 60 712 55 ENST00000382349.4 0.137931 0.717315 ATP8B3 148229 __UNKNOWN__ __UNKNOWN__ 19 1798716 1798716 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:1798716G>A ENST00000310127.6 - 14 1791 ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000539485.1_Intron NM_138813.3 NP_620168.1 O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 NA NA binding of sperm to zona pellucida (GO:0007339) acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) cagcctgggcgacagagcgag 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AA827939 CCDS45901.1, CCDS54196.1 19p13.3 2010-04-28 2010-04-28 ENSG00000130270 ENSG00000130270 148229 ATPases / P-type 13535 protein-coding gene gene with protein product aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK 605866 ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3 NA 11015572 Standard NM_138813 NM_138813 NA Approved ATPIK uc002ltw.4 O60423 OTTHUMG00000166189 ENST00000310127.6:c.1552+1229C>T chr19.hg19:g.1798716G>A NA Q7Z485|Q8IVB8|Q8N4Y8|Q96M22 hg19 CCDS45901.1 0.02 1.348414 GGCxACA COVERED NOVEL ATP8B3-002 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000388279.1 6 2.276983 KEEP 5 2 67 31 1014 GG 0.999998 0.990962 0 - 4 60 121 1 0 7.789017 51 60 1557 130 ENST00000310127.6 0.072727 0.990964 ATP8B3 148229 __UNKNOWN__ __UNKNOWN__ 19 1805248 1805248 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:1805248C>A ENST00000310127.6 - 10 1143 ATP8B3_ENST00000526092.2_Intron|ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000539485.1_Intron NM_138813.3 NP_620168.1 O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 NA NA binding of sperm to zona pellucida (GO:0007339) acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) tgctgggattccaggtgtgag 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AA827939 CCDS45901.1, CCDS54196.1 19p13.3 2010-04-28 2010-04-28 ENSG00000130270 ENSG00000130270 148229 ATPases / P-type 13535 protein-coding gene gene with protein product aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK 605866 ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3 NA 11015572 Standard NM_138813 NM_138813 NA Approved ATPIK uc002ltw.4 O60423 OTTHUMG00000166189 ENST00000310127.6:c.904+124G>T chr19.hg19:g.1805248C>A NA Q7Z485|Q8IVB8|Q8N4Y8|Q96M22 hg19 CCDS45901.1 0.02 -0.394733 ATTxCAG COVERED . . . . . . . . . . c 4.230 0.041504 0.08196 . . ENSG00000130270 ENST00000533993 . . . 0.158 0.158 0.14942 . . . . . . . . . . . 0.09310 N 0.999999 . . . . . . . . . . . . . . . . . . . . . X 275 . . E - 1 0 ATP8B3 1756248 0.013000 0.17824 0.200000 0.23457 0.205000 0.24178 0.893000 0.28336 0.202000 0.20498 0.205000 0.17691 GAA NOVEL ATP8B3-002 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000388279.1 8 4.572426 KEEP 1 1 10 19 666 CC 0.999863 0.926513 0 - 4 60 117 0 0 7.920935 37 60 1228 88 ENST00000310127.6 0.097561 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 2152618 2152618 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:2152618T>C NA NA AP3D1 (1053 upstream) : DOT1L (11529 downstream) NA NA NA ggctcacacctgtaatcccag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.2152618T>C NA hg19 0.02 -0.175426 ACCxGTA COVERED NOVEL 0 5 3.31002 KEEP 3 0 0 11 345 TT 0.993072 0.420544 0 3 40 99 0 0 7.810057 15 60 454 48 0.166667 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 2152619 2152619 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:2152619G>T NA NA AP3D1 (1054 upstream) : DOT1L (11528 downstream) NA NA NA gctcacacctgtaatcccagc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.2152619G>T NA hg19 0.02 -0.18422 CCTxTAA COVERED NOVEL 0 5 3.310938 KEEP 3 0 0 11 404 GG 0.993072 0.420544 0 3 40 93 0 0 7.210073 15 60 507 48 0.166667 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 2152690 2152690 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:2152690T>G NA NA AP3D1 (1125 upstream) : DOT1L (11457 downstream) NA NA NA gcctggccaatatggtgaaac 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.2152690T>G NA hg19 0.02 -0.140319 CAAxATG COVERED NOVEL 0 3 3.309707 KEEP 2 0 0 11 336 TT 0.993072 0.259157 0 3 49 96 0 0 7.873193 11 60 310 37 0.214286 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 2152691 2152691 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:2152691A>T NA NA AP3D1 (1126 upstream) : DOT1L (11456 downstream) NA NA NA cctggccaatatggtgaaacc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.2152691A>T NA hg19 0.02 -0.131542 AATxTGG COVERED NOVEL 0 3 3.309223 KEEP 2 0 0 11 333 AA 0.993072 0.227586 0 4 49 118 0 0 10.0716 10 60 279 37 0.285714 0.229173 GNG7 2788 __UNKNOWN__ __UNKNOWN__ 19 2538040 2538040 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:2538040C>A ENST00000382159.3 - 3 161 NM_052847.2 NP_443079.1 O60262 GBG7_HUMAN guanine nucleotide binding protein (G protein), gamma 7 NA NA behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) central_nervous_system(2)|large_intestine(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) gcgccactgccctccagcctg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB010414 CCDS12091.1 19p13.3 2010-02-17 ENSG00000176533 ENSG00000176533 2788 4410 protein-coding gene gene with protein product 604430 NA 9600093 Standard NM_052847 NM_052847 NA Approved FLJ00058 uc002lwd.2 O60262 ENST00000382159.3:c.36+17106G>T chr19.hg19:g.2538040C>A NA B2R496 hg19 CCDS12091.1 0.02 -0.184213 TGCxCTC COVERED NOVEL GNG7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451345.1 6 2.407853 KEEP 0 0 0 8 283 CC 0.99257 0.420331 0 - 4 57 123 0 0 10.430826 11 60 374 37 ENST00000382159.3 0.266667 0.423478 GNG7 2788 __UNKNOWN__ __UNKNOWN__ 19 2538052 2538052 __UNKNOWN__ Intron SNP A A G rs550071470 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:2538052A>G ENST00000382159.3 - 3 161 NM_052847.2 NP_443079.1 O60262 GBG7_HUMAN guanine nucleotide binding protein (G protein), gamma 7 NA NA behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) central_nervous_system(2)|large_intestine(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) tccagcctggacaacagagca 0.502 NA A||| 1 0.000199681 0 0 5008 , , NA 18692 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB010414 CCDS12091.1 19p13.3 2010-02-17 ENSG00000176533 ENSG00000176533 2788 4410 protein-coding gene gene with protein product 604430 NA 9600093 Standard NM_052847 NM_052847 NA Approved FLJ00058 uc002lwd.2 O60262 ENST00000382159.3:c.36+17094T>C chr19.hg19:g.2538052A>G NA B2R496 hg19 CCDS12091.1 0.02 -0.19296 TGGxCAA COVERED NOVEL GNG7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451345.1 6 2.407461 KEEP 0 0 0 8 256 AA 0.99257 0.454356 0 - 4 60 122 0 0 10.201711 12 60 352 38 ENST00000382159.3 0.25 0.457757 ZNF556 80032 __UNKNOWN__ __UNKNOWN__ 19 2872426 2872426 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:2872426C>T ENST00000586426.1 + 2 90 ZNF556_ENST00000307635.2_Intron|AC006130.1_ENST00000579582.1_RNA Q9HAH1 ZN556_HUMAN zinc finger protein 556 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) tctggtcactcctcactatgt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC009374 CCDS12097.1, CCDS74254.1 19p13.3 2013-09-20 ENSG00000172000 ENSG00000172000 80032 Zinc fingers, C2H2-type, - 25669 protein-coding gene gene with protein product NA 12477932 Standard NM_024967 XM_005259647 NA Approved FLJ11637 uc002lwp.1 Q9HAH1 OTTHUMG00000180501 ENST00000586426.1:c.4-1068C>T chr19.hg19:g.2872426C>T NA Q96GM3 hg19 0.02 -0.122793 ACTxCTC COVERED NOVEL ZNF556-002 NOVEL NAGNAG_splice_site|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000451639.2 2 3.009589 KEEP 12 0 0 10 350 CC 0.99257 0.194853 0 + 3 40 88 0 0 7.182078 10 40 318 47 ENST00000586426.1 0.230769 0.196312 NFIC 4782 __UNKNOWN__ __UNKNOWN__ 19 3439919 3439919 __UNKNOWN__ Intron SNP T T C rs10403386 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:3439919T>C ENST00000443272.2 + 6 1009 NFIC_ENST00000590282.1_Intron|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000589123.1_Intron|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000586919.1_Intron NM_001245002.1 NP_001231931.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) NA NA DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) nucleolus (GO:0005730)|nucleus (GO:0005634) core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) atctcctgacttcgtgatctg 0.562 NA c||| 2923 0.583666 0.7413 0.611 5008 , , NA 12433 0.7232 NA 0.3419 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X12492 CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1 19p13.3 2008-02-05 ENSG00000141905 4782 7786 protein-coding gene gene with protein product 600729 NFI NA 3398920, 7590749 Standard NM_005597 NM_205843 NA Approved CTF, NF-I, CTF5 uc010xhi.2 P08651 ENST00000443272.2:c.958+4714T>C chr19.hg19:g.3439919T>C NA A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1 hg19 CCDS59330.1 0.02 -0.192979 GACxTCG UNCOVERED NOVEL NFIC-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452834.1 4 2.406776 KEEP 12 0 0 8 246 TT 0 0 0 + 11 60 360 0 0 36.453954 6 22 183 65 ENST00000443272.2 0.647059 0.457757 ANKRD24 170961 __UNKNOWN__ __UNKNOWN__ 19 4217373 4217373 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:4217373G>A ENST00000600132.1 + 18 2492 c.2216G>A c.(2215-2217)cGg>cAg p.R739Q ANKRD24_ENST00000318934.4_Missense_Mutation_p.R739Q|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R829Q NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 739 NA endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CTCcggcagcgggagcgggag 0.706 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 5 7 6 NA NA NA 19 NA NA 4217373 1719 3566 5285 SO:0001583 missense AB075861 CCDS45925.1 19p13.3 2013-01-10 ENSG00000089847 170961 Ankyrin repeat domain containing 29424 protein-coding gene gene with protein product NA 11853319 Standard XM_114000 NM_133475 NA Approved KIAA1981 uc010dtt.1 Q8TF21 ENST00000600132.1:c.2216G>A chr19.hg19:g.4217373G>A ENSP00000471252:p.Arg739Gln NA O75268|O95781 hg19 CCDS45925.1 0.02 1.348305 AGCxGGA COVERED . . . . . . . . . . g 15.90 2.969790 0.53614 . . ENSG00000089847 ENST00000318934;ENST00000262970 T;T 0.53206 0.65;0.63 4.34 4.34 0.51931 . . . . . T 0.28764 0.0713 N 0.14661 0.345 0.24126 N 0.995787 P;P 0.42649 0.681;0.786 B;B 0.39771 0.164;0.309 T 0.04522 -1.0945 9 0.37606 T 0.19 -30.3054 6.6182 0.22788 0.0999:0.1845:0.7157:0.0 . 739;829 Q8TF21;Q8TF21-2 ANR24_HUMAN;. Q 739;829 ENSP00000321731:R739Q;ENSP00000262970:R829Q ENSP00000262970:R829Q R + 2 0 ANKRD24 4168373 0.000000 0.05858 0.930000 0.37139 0.550000 0.35303 0.579000 0.23788 2.141000 0.66446 0.462000 0.41574 CGG NOVEL ANKRD24-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000458188.1 1 4.51478 KEEP 0 0 0 15 533 GG 0.99649 0.987486 0 + 4 60 123 0 0 7.773217 58 60 1968 124 ENST00000600132.1 0.064516 0.990964 STAP2 55620 __UNKNOWN__ __UNKNOWN__ 19 4331886 4331886 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:4331886A>G ENST00000600324.1 - 4 422 STAP2_ENST00000594605.1_Intron NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 NA NA cytoplasm (GO:0005737)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) ccgagatcgcaccactgcact 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ245719 CCDS12128.1, CCDS45926.1 19p13.3 2011-05-03 2007-08-09 ENSG00000178078 ENSG00000178078 55620 30430 protein-coding gene gene with protein product 607881 NA 10980601, 11441184 Standard NM_001013841 XM_005259592 NA Approved STAP-2, BKS uc002mac.3 Q9UGK3 ENST00000600324.1:c.354+132T>C chr19.hg19:g.4331886A>G NA A6NKK3|Q9NXI2 hg19 CCDS12128.1 0.02 -0.350799 CGCxCCA COVERED NOVEL STAP2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000458115.3 4 2.83663 KEEP 0 1 36 22 673 AA 0.999892 0.877613 0 - 4 60 120 0 0 8.516707 31 60 919 70 ENST00000600324.1 0.114286 0.877708 PLIN4 729359 __UNKNOWN__ __UNKNOWN__ 19 4509137 4509137 __UNKNOWN__ Intron SNP C C T rs566132909 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:4509137C>T ENST00000301286.3 - 4 3472 NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 NA NA cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886) NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 ctggctaacacggtgaaaccc 0.612 NA C||| 26 0.00519169 0.0197 0 5008 , , NA 13093 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB067468 CCDS45927.1 19p13.3 2009-10-06 2009-08-12 2009-08-12 ENSG00000167676 ENSG00000167676 729359 Perilipins 29393 protein-coding gene gene with protein product 613247 KIAA1881 KIAA1881 NA 11572484, 19638644 Standard XM_170901 NM_001080400 NA Approved S3-12 uc002mar.1 Q96Q06 OTTHUMG00000167571 ENST00000301286.3:c.3473-170G>A chr19.hg19:g.4509137C>T NA A6NEI2 hg19 CCDS45927.1 0.02 -0.16661 ACAxGGT COVERED NOVEL PLIN4-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395095.1 2 3.009099 KEEP 1 0 0 10 322 CC 0.992708 0.351366 0 - 3 60 88 0 0 6.634324 16 60 490 33 ENST00000301286.3 0.157895 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 5344877 5344877 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:5344877A>G NA NA PTPRS (4063 upstream) : RN7SL626P (64591 downstream) NA NA NA gctcacgcctataatcccagc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.5344877A>G NA hg19 0.02 1.853751 CCTxTAA COVERED NOVEL 0 5 6.017273 KEEP 1 0 0 20 608 AA 0.999863 0.989407 0 4 60 139 0 0 9.490548 54 60 1483 122 0.068966 0.989542 HSD11B1L 374875 __UNKNOWN__ __UNKNOWN__ 19 5684301 5684301 __UNKNOWN__ 5'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:5684301C>A ENST00000581521.1 + 0 401 HSD11B1L_ENST00000423665.2_Intron|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000577701.1_Intron|HSD11B1L_ENST00000577917.1_Intron|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581773.1_Intron|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000301382.4_Intron|HSD11B1L_ENST00000342970.2_Intron|HSD11B1L_ENST00000339423.2_Intron|HSD11B1L_ENST00000581893.1_Intron|HSD11B1L_ENST00000422535.2_Intron|HSD11B1L_ENST00000411793.2_Intron|HSD11B1L_ENST00000583928.1_Intron Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like NA NA extracellular region (GO:0005576) oxidoreductase activity (GO:0016491) NA tgctgggattccaggcatgag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY268353 CCDS12144.1, CCDS12145.1, CCDS12146.1, CCDS45931.1, CCDS45932.1, CCDS58641.1, CCDS58642.1, CCDS74266.1 19p13.3 2011-09-20 ENSG00000167733 374875 1.1.1.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 30419 protein-coding gene gene with protein product short chain dehydrogenase/reductase 10, short chain dehydrogenase/reductase family 26C, member 2 NA 12477932 Standard NM_198706 NM_001267868 NA Approved SCDR10, SDR26C2 uc010dug.4 Q7Z5J1 ENST00000581521.1:c.-75C>A chr19.hg19:g.5684301C>A NA Q05D45|Q52LF4|Q7Z5I9|Q7Z5J0|Q7Z5P5|Q7Z5P6|Q7Z5P7|Q7Z5P8 hg19 CCDS12145.1 0.02 2.819535 ATTxCAG COVERED NOVEL HSD11B1L-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442581.1 13 14.847359 KEEP 0 3 90 81 2731 CC 1 0.999993 0 + 10 60 295 0 0 20.118588 91 60 3021 254 ENST00000581521.1 0.09901 0.999993 RFX2 5990 __UNKNOWN__ __UNKNOWN__ 19 6073269 6073269 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:6073269A>G ENST00000303657.5 - 2 142 CTC-232P5.3_ENST00000587759.1_RNA|RFX2_ENST00000592546.1_Intron NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 gggattacagacatgagccac 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(38;171 817 19800 47433 48051) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12157.1, CCDS12158.1 19p13.3 2011-11-23 ENSG00000087903 ENSG00000087903 5990 9983 protein-coding gene gene with protein product trans-acting regulatory factor 2, DNA binding protein RFX2, HLA class II regulatory factor RFX2 142765 NA 1505960 Standard NM_000635 NM_000635 NA Approved FLJ14226 uc002meb.3 P48378 ENST00000303657.5:c.8-25754T>C chr19.hg19:g.6073269A>G NA A8K581|B3KNC4|Q6IQ44|Q8SNA2 hg19 CCDS12157.1 0.02 1.85358 CAGxCAT COVERED NOVEL RFX2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000452687.1 8 21.968411 KEEP 1 0 0 73 2373 AA 1 0.990964 0 - 4 60 142 0 0 9.852706 52 60 1542 171 ENST00000303657.5 0.071429 0.990964 CD209 30835 __UNKNOWN__ __UNKNOWN__ 19 7806095 7806095 __UNKNOWN__ 3'UTR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:7806095G>T ENST00000315599.7 - 0 3067 CD209_ENST00000301357.8_3'UTR NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule NA NA antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 cggtggctcaggcctgtaatc 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M98457 CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1 19p13 2011-08-30 2006-03-28 ENSG00000090659 30835 C-type lectin domain containing, CD molecules 1641 protein-coding gene gene with protein product 604672 CD209 antigen NA 1518869 Standard NM_021155 NM_021155 NA Approved DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L uc002mht.2 Q9NNX6 ENST00000315599.7:c.*1830C>A chr19.hg19:g.7806095G>T NA A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8 hg19 CCDS12186.1 0.02 1.350718 TCAxGCC COVERED NOVEL CD209-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000462241.1 8 15.94387 KEEP 0 0 0 53 1809 GG 1 0.998696 0 - 5 60 142 0 0 8.782899 65 60 2297 187 ENST00000315599.7 0.071429 0.998696 ADAMTS10 81794 __UNKNOWN__ __UNKNOWN__ 19 8656590 8656590 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:8656590T>C ENST00000597188.1 - 15 2068 ADAMTS10_ENST00000595838.1_Intron|ADAMTS10_ENST00000270328.4_Intron NM_030957.2 NP_112219.3 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 NA NA extracellular matrix (GO:0031012)|microfibril (GO:0001527) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 tcccaaagtgttgggattaca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF163762 CCDS12206.1, CCDS62529.1 19p13.2 2014-08-12 2005-08-19 ENSG00000142303 ENSG00000142303 81794 ADAM metallopeptidases with thrombospondin type 1 motif 13201 protein-coding gene gene with protein product 608990 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10 NA Standard NM_030957 XM_005272499 NA Approved ADAM-TS10 uc002mkj.1 Q9H324 OTTHUMG00000182216 ENST00000597188.1:c.1797+93A>G chr19.hg19:g.8656590T>C NA M0QZE4 hg19 CCDS12206.1 0.02 -0.26289 GTGxTGG COVERED NOVEL ADAMTS10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460085.3 1 9.320929 KEEP 0 0 0 31 890 TT 0.999997 0.693666 0 - 4 60 122 0 0 9.19494 23 60 588 73 ENST00000597188.1 0.148148 0.693668 MUC16 94025 __UNKNOWN__ __UNKNOWN__ 19 9019279 9019279 __UNKNOWN__ Silent SNP G G A rs372144645 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:9019279G>A ENST00000397910.4 - 23 37811 c.37608C>T c.(37606-37608)ccC>ccT p.P12536P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12538 NA cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTTACTTGCGGGGCTTGGGA 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G 4,3758 0,4,1877 75 70 72 NA 37608 0.3 0 19 72 1,8217 0,1,4108 no coding-synonymous MUC16 NM_024690.2 0,5,5985 AA,AG,GG NA 0.0122,0.1063,0.0417 12536/14508 9019279 5,11975 1881 4109 5990 SO:0001819 synonymous_variant AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025 Mucins 15582 protein-coding gene gene with protein product 606154 NA 11369781 Standard NM_024690 XM_006722941 NA Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.37608C>T chr19.hg19:g.9019279G>A NA Q6ZQW5|Q96RK2 hg19 CCDS54212.1 0.02 -0.350858 TGCxGGG COVERED NOVEL MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402806.1 3 10.232267 KEEP 0 0 0 34 1141 GG 0.999998 0.877706 0 - 3 60 95 0 0 6.30698 37 60 1188 102 ENST00000397910.4 0.075 0.877708 OR7G1 125962 __UNKNOWN__ __UNKNOWN__ 19 9225685 9225685 __UNKNOWN__ Missense_Mutation SNP T T C rs2195951 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:9225685T>C ENST00000541538.1 - 1 754 c.755A>G c.(754-756)tAt>tGt p.Y252C OR7G1_ENST00000293614.1_Missense_Mutation_p.Y252C NM_001005192.2 NP_001005192.2 Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 252 NA Y -> C (in dbSNP:rs2195951). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 AGCTGTCCCATAGAACAAGGA 0.453 NA T||| 1690 0.33746 0.5953 0.1354 5008 , , NA 18925 0.3254 NA 0.1918 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 T CYS/TYR 2314,2092 603.3+/-390.1 591,1132,480 99 95 97 NA 755 2.6 0.6 19 dbSNP_96 97 1490,7110 281.7+/-295.2 125,1240,2935 yes missense OR7G1 NM_001005192.2 194 716,2372,3415 CC,CT,TT NA 17.3256,47.4807,29.248 probably-damaging 252/312 9225685 3804,9202 2203 4300 6503 SO:0001583 missense CCDS32898.1, CCDS32898.2 19p13.2 2013-09-24 ENSG00000161807 ENSG00000161807 125962 GPCR / Class A : Olfactory receptors 8465 protein-coding gene gene with protein product OR7G1P NA Standard NM_001005192 NA Approved OR19-15 uc021uoi.1 Q8NGA0 OTTHUMG00000168067 ENST00000541538.1:c.755A>G chr19.hg19:g.9225685T>C ENSP00000444134:p.Tyr252Cys NA Q6IFJ5|Q96RA1 hg19 CCDS32898.2 0.02 -0.438428 CCAxAGA COVERED 647 0.29624542124542125 286 0.5813008130081301 44 0.12154696132596685 180 0.3146853146853147 137 0.18073878627968337 t 9.824 1.186540 0.21870 0.525193 0.173256 ENSG00000161807 ENST00000293614;ENST00000541538 T;T 0.41758 0.99;0.99 3.78 2.63 0.31362 GPCR, rhodopsin-like superfamily (1); 0.227928 0.22228 U 0.062851 T 0.00012 0.0000 M 0.93016 3.37 0.80722 P 0.0 P 0.35944 0.529 B 0.40477 0.33 T 0.47774 -0.9091 9 0.72032 D 0.01 . 7.687 0.28546 0.2556:0.0:0.0:0.7444 rs2195951;rs52813886;rs61268819;rs2195951 252 Q8NGA0 OR7G1_HUMAN C 252 ENSP00000293614:Y252C;ENSP00000444134:Y252C ENSP00000293614:Y252C Y - 2 0 OR7G1 9086685 0.000000 0.05858 0.570000 0.28473 0.291000 0.27294 -0.114000 0.10757 1.700000 0.51204 0.410000 0.27636 TAT NOVEL OR7G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397912.1 0 12.335694 KEEP 0 0 0 41 1252 TT 1 0.959859 0 - 4 60 142 0 0 10.057647 46 60 1295 130 ENST00000541538.1 0.08 0.959859 ZNF426 79088 __UNKNOWN__ __UNKNOWN__ 19 9639087 9639087 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:9639087C>T ENST00000593003.1 - 6 1997 c.1520G>A c.(1519-1521)cGt>cAt p.R507H ZNF426_ENST00000535489.1_Missense_Mutation_p.R545H|ZNF426_ENST00000253115.2_Missense_Mutation_p.R545H Q9BUY5 ZN426_HUMAN zinc finger protein 426 545 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) p.R545H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TCGAAGTGAACGGGGATGACT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) large_intestine(1) 125 107 113 NA NA NA 19 NA NA 9639087 2203 4300 6503 SO:0001583 missense AK095759 CCDS12215.1, CCDS74279.1 19p13.2 2013-01-08 ENSG00000130818 79088 Zinc fingers, C2H2-type, - 20725 protein-coding gene gene with protein product NA Standard NM_024106 NM_024106 NA Approved MGC2663 uc002mlq.3 Q9BUY5 ENST00000593003.1:c.1520G>A chr19.hg19:g.9639087C>T ENSP00000468100:p.Arg507His NA B3KTL2 hg19 0.02 1.502517 GAAxGGG COVERED . . . . . . . . . . C 12.34 1.909986 0.33721 . . ENSG00000130818 ENST00000545189;ENST00000253115;ENST00000535489 T;T 0.07908 3.15;3.15 0.958 -1.92 0.07618 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.09379 0.0231 N 0.19112 0.55 0.09310 N 1 D;D 0.65815 0.957;0.995 B;P 0.58520 0.053;0.84 T 0.21552 -1.0242 9 0.62326 D 0.03 . 4.1891 0.10413 0.2355:0.294:0.4704:0.0 . 532;545 Q59EH4;Q9BUY5 .;ZN426_HUMAN H 532;545;545 ENSP00000253115:R545H;ENSP00000439017:R545H ENSP00000253115:R545H R - 2 0 ZNF426 9500087 0.000000 0.05858 0.000000 0.03702 0.260000 0.26232 -2.313000 0.01126 -0.700000 0.05070 0.460000 0.39030 CGT NOVEL ZNF426-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000449906.1 3 27.688199 KEEP 0 0 0 92 3157 CC 1 0.995084 0 - 4 60 125 0 0 7.861216 62 60 2042 239 ENST00000593003.1 0.060606 0.995084 ZNF121 7675 __UNKNOWN__ __UNKNOWN__ 19 9672369 9672369 __UNKNOWN__ 5'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:9672369T>C ENST00000590933.1 - 0 1066 P58317 ZN121_HUMAN zinc finger protein 121 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 24 ttgagaccagtctgggcaaca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M99593 CCDS32902.1 19p13.2 2013-01-08 2006-08-22 ENSG00000197961 7675 Zinc fingers, C2H2-type 12904 protein-coding gene gene with protein product 194628 zinc finger protein 121 (clone ZHC32) D19S204 NA 8468057 Standard NM_001008727 NM_001008727 NA Approved ZHC32, ZNF20 uc010xkp.1 P58317 ENST00000590933.1:c.-1341A>G chr19.hg19:g.9672369T>C NA hg19 0.02 -0.175392 CAGxCTG COVERED NOVEL ZNF121-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000449908.1 4 3.009123 KEEP 0 0 0 10 317 TT 0.992708 0.454419 0 - 3 60 92 0 0 7.111201 15 60 436 44 ENST00000590933.1 0.166667 0.457757 ZNF561 93134 __UNKNOWN__ __UNKNOWN__ 19 9718794 9718794 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:9718794A>G ENST00000424629.1 - 0 3626 ZNF561_ENST00000302851.3_3'UTR Q8N587 ZN561_HUMAN zinc finger protein 561 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 tgatccgcccacctcggcctc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074787 CCDS12216.2 19p13.2 2013-09-20 ENSG00000171469 ENSG00000171469 93134 Zinc fingers, C2H2-type, - 28684 protein-coding gene gene with protein product NA 12477932 Standard NM_152289 NM_152289 NA Approved MGC45408 uc002mlu.3 Q8N587 OTTHUMG00000157054 ENST00000424629.1:c.*2082T>C chr19.hg19:g.9718794A>G NA B4E2Q8|Q6PJS0 hg19 0.02 -0.333248 CCCxCCT COVERED NOVEL ZNF561-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000347358.1 7 3.30877 KEEP 3 0 0 11 336 AA 0.993634 0.84656 0 - 3 60 100 0 0 6.912118 34 60 997 69 ENST00000424629.1 0.081081 0.851984 C19orf82 0 __UNKNOWN__ __UNKNOWN__ 19 9737702 9737702 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:9737702G>A ENST00000592851.1 + 2 176 C19orf82_ENST00000591932.1_Intron|C19orf82_ENST00000587536.1_Intron|C19orf82_ENST00000591056.1_Intron|C19orf82_ENST00000586614.1_Intron K7EIQ3 CS082_HUMAN NA NA NA tcagcctcccgaagtgctggg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000592851.1:c.170+166G>A chr19.hg19:g.9737702G>A NA hg19 CCDS59350.1 0.02 -0.315762 CCCxAAG COVERED NOVEL C19orf82-006 PUTATIVE alternative_3_UTR|basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450235.1 3 5.718326 KEEP 0 0 0 19 648 GG 0.99986 0.81835 0 + 4 60 118 0 0 8.31028 31 60 974 80 ENST00000592851.1 0.114286 0.818465 ZNF812 729648 __UNKNOWN__ __UNKNOWN__ 19 9804317 9804317 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:9804317T>G ENST00000457674.2 - 4 760 ZNF812_ENST00000536819.1_Intron NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) ovary(1) 1 ctcccaagtatctgggactac 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54215.1 19p13.2 2014-04-02 ENSG00000224689 ENSG00000224689 729648 Zinc fingers, C2H2-type, - 33242 protein-coding gene gene with protein product NA Standard NM_001199814 NA Approved uc021uop.1 P0C7V5 OTTHUMG00000167867 ENST00000457674.2:c.241+52A>C chr19.hg19:g.9804317T>G NA hg19 CCDS54215.1 0.02 -0.298145 GTAxCTG COVERED NOVEL ZNF812-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396726.1 2 4.147696 KEEP 0 1 38 27 818 TT 0.999997 0.781058 0 - 3 60 106 0 0 7.797547 27 60 756 79 ENST00000457674.2 0.1 0.78106 COL5A3 50509 __UNKNOWN__ __UNKNOWN__ 19 10078144 10078144 __UNKNOWN__ Intron SNP A A C rs571702457 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:10078144A>C ENST00000264828.3 - 62 4490 NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 NA NA axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588) collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) catacacacaaacacacacac 0.527 NA A||| 16 0.00319489 0 0.0014 5008 , , NA 18648 0.0139 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 29 32 31 NA NA NA 19 NA NA 10078144 692 1591 2283 SO:0001627 intron_variant AF177941 CCDS12222.1 19p13.2 2013-01-16 ENSG00000080573 ENSG00000080573 50509 Collagens 14864 protein-coding gene gene with protein product 120216 NA 10722718 Standard NM_015719 NM_015719 NA Approved uc002mmq.1 P25940 OTTHUMG00000150019 ENST00000264828.3:c.4405-68T>G chr19.hg19:g.10078144A>C NA Q9NZQ6 hg19 CCDS12222.1 0.02 -0.368307 ACAxACA COVERED NOVEL COL5A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315788.1 15 8.723359 KEEP 1 0 0 29 857 AA 0.999997 0.909066 0 - 4 60 134 0 0 9.618806 37 60 1054 101 ENST00000264828.3 0.097561 0.909069 PPAN-P2RY11 692312 __UNKNOWN__ __UNKNOWN__ 19 10217608 10217608 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:10217608T>A ENST00000428358.1 + 2 361 PPAN_ENST00000393793.1_Intron|PPAN_ENST00000253107.7_Intron|PPAN_ENST00000556468.1_Intron|PPAN-P2RY11_ENST00000393796.4_Intron NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 PPAN-P2RY11 readthrough NA NA breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) catgcctgtattcccagcatt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ300588 CCDS42498.1, CCDS56082.1 19p13.2 2009-09-17 ENSG00000243207 ENSG00000243207 692312 33526 other readthrough NA Standard NM_001040664 NM_001040664 NA Approved uc002mna.3 OTTHUMG00000150165 ENST00000428358.1:c.189+261T>A chr19.hg19:g.10217608T>A NA hg19 CCDS56082.1 0.02 2.65301 GTAxTCC COVERED NOVEL PPAN-P2RY11-002 NOVEL basic|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345524.1 13 32.970334 KEEP 0 2 61 131 4243 TT 1 1 0 + 8 60 239 0 0 14.764667 119 60 3580 353 ENST00000428358.1 0.062992 1 EIF3G 8666 __UNKNOWN__ __UNKNOWN__ 19 10229188 10229188 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:10229188T>C ENST00000253108.4 - 5 343 NM_003755.3 NP_003746.2 eukaryotic translation initiation factor 3, subunit G NA NA central_nervous_system(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) ttgcagtgagtcgagatcgtg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(124;1100 1638 3822 4510 4876) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U96074 CCDS12227.1 19p13.2 2013-02-12 2007-07-27 2007-07-27 ENSG00000130811 8666 RNA binding motif (RRM) containing 3274 protein-coding gene gene with protein product 603913 eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa EIF3S4 NA 9822659 Standard NM_003755 NA Approved eIF3-delta, eIF3-p44, eIF3g uc002mnd.3 O75821 ENST00000253108.4:c.300+155A>G chr19.hg19:g.10229188T>C NA hg19 CCDS12227.1 0.02 -0.218997 GAGxCGA COVERED NOVEL EIF3G-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451144.1 4 3.608842 KEEP 1 0 0 12 337 TT 0.993634 0.549368 0 - 4 60 129 0 0 10.466484 16 60 390 41 ENST00000253108.4 0.2 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 10415163 10415163 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:10415163G>C NA NA ICAM5 (7709 upstream) : ZGLP1 (315 downstream) NA NA NA tctcaaactcgtggcctcaag 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.10415163G>C NA hg19 0.02 -0.219181 CTCxTGG COVERED NOVEL 0 10 2.708546 KEEP 0 0 0 9 319 GG 0.99254 0.548763 0 3 60 104 0 0 7.965616 20 60 636 51 0.130435 0.552887 AP1M2 10053 __UNKNOWN__ __UNKNOWN__ 19 10687840 10687840 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:10687840A>C ENST00000250244.6 - 9 1130 AP1M2_ENST00000590923.1_Intron NM_005498.4 NP_005489.2 Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032) clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588) endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) AGTCCCCTCCACCCCCAGATC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 16 15 15 NA NA NA 19 NA NA 10687840 1858 4086 5944 SO:0001627 intron_variant AF020797 CCDS45964.1 19p13.2 2008-10-07 ENSG00000129354 10053 558 protein-coding gene gene with protein product 607309 NA 10338135 Standard NM_005498 NA Approved HSMU1B, mu2, AP1-mu2 uc002mpc.3 Q9Y6Q5 ENST00000250244.6:c.1047+33T>G chr19.hg19:g.10687840A>C NA B2RDV5|Q9BSI8 hg19 CCDS45964.1 0.02 -0.373409 TCCxCCC COVERED NOVEL AP1M2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000452034.1 0 2.910364 KEEP 0 3 27 20 536 AA 0.999892 0.918072 0 - 13 60 150 0 0 9.725386 29 60 739 120 ENST00000250244.6 0.309524 0.918171 SLC44A2 57153 __UNKNOWN__ __UNKNOWN__ 19 10751687 10751687 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:10751687C>T ENST00000335757.5 + 21 2305 SLC44A2_ENST00000407327.4_Intron|SLC44A2_ENST00000588214.1_Intron|SLC44A2_ENST00000586078.1_Intron Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 NA NA choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871) NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) cgcttgaacccgggaggtgga 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF070636 CCDS12245.1, CCDS54216.1 19p13.2 2014-08-12 2013-07-17 ENSG00000129353 ENSG00000129353 57153 Solute carriers 17292 protein-coding gene gene with protein product 606106 NA 10677542, 15715662 Standard NM_001145056 NA Approved CTL2 uc002mpf.3 Q8IWA5 OTTHUMG00000180585 ENST00000335757.5:c.1930-1356C>T chr19.hg19:g.10751687C>T NA B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68 hg19 CCDS12245.1 0.02 -0.333306 ACCxGGG COVERED NOVEL SLC44A2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452045.1 4 3.611336 KEEP 0 0 0 12 397 CC 0.993634 0.84656 0 + 4 60 100 0 0 6.8008 26 60 884 62 ENST00000335757.5 0.133333 0.851984 SLC44A2 57153 __UNKNOWN__ __UNKNOWN__ 19 10751705 10751705 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:10751705C>G ENST00000335757.5 + 21 2305 SLC44A2_ENST00000407327.4_Intron|SLC44A2_ENST00000588214.1_Intron|SLC44A2_ENST00000586078.1_Intron Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 NA NA choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871) NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) ggaggttgcactgagccaagg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF070636 CCDS12245.1, CCDS54216.1 19p13.2 2014-08-12 2013-07-17 ENSG00000129353 ENSG00000129353 57153 Solute carriers 17292 protein-coding gene gene with protein product 606106 NA 10677542, 15715662 Standard NM_001145056 NA Approved CTL2 uc002mpf.3 Q8IWA5 OTTHUMG00000180585 ENST00000335757.5:c.1930-1338C>G chr19.hg19:g.10751705C>G NA B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68 hg19 CCDS12245.1 0.02 -0.394739 GCAxTGA COVERED NOVEL SLC44A2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452045.1 5 4.514426 KEEP 0 0 0 15 509 CC 0.99649 0.923388 0 + 4 60 123 0 0 8.660702 34 60 1151 78 ENST00000335757.5 0.105263 0.92664 DNM2 1785 __UNKNOWN__ __UNKNOWN__ 19 10935977 10935977 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:10935977A>G ENST00000359692.6 + 17 2196 DNM2_ENST00000314646.5_Intron|DNM2_ENST00000408974.4_Intron|DNM2_ENST00000355667.6_Intron|DNM2_ENST00000389253.4_Intron|DNM2_ENST00000585892.1_Intron NM_004945.3 NP_004936.2 P50570 DYN2_HUMAN dynamin 2 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ttgggaggccaaggcgggcgg 0.517 NA F, N, Splice, Mis, O ETP ALL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Rec yes 19 19p13.2 1785 dynamin 2 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1 19p 2014-09-17 1785 Pleckstrin homology (PH) domain containing 2974 protein-coding gene gene with protein product dynamin II, cytoskeletal protein 602378 NA 7590285, 9143510 Standard NM_004945 NM_001190716 NA Approved DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB uc002mps.2 P50570 ENST00000359692.6:c.2046+80A>G chr19.hg19:g.10935977A>G NA A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4 hg19 CCDS32907.1 0.02 -0.184136 GCCxAGG COVERED NOVEL DNM2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000452591.1 1 3.309623 KEEP 2 0 0 11 336 AA 0.993072 0.420544 0 + 3 60 95 0 0 7.261511 17 60 477 50 ENST00000359692.6 0.15 0.423478 DOCK6 57572 __UNKNOWN__ __UNKNOWN__ 19 11368554 11368554 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:11368554A>T ENST00000294618.7 - 2 56 NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) guanyl-nucleotide exchange factor activity (GO:0005085) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 ggaggatcacatgaggccagg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45975.1 19p13.2 2011-08-04 ENSG00000130158 ENSG00000130158 57572 19189 protein-coding gene gene with protein product 614194 NA 12432077 Standard NM_020812 NM_020812 NA Approved KIAA1395, ZIR1 uc002mqs.5 Q96HP0 ENST00000294618.7:c.45-4152T>A chr19.hg19:g.11368554A>T NA A6H8X5|Q7Z7P4|Q9P2F2 hg19 CCDS45975.1 0.02 -0.149094 CACxTGA COVERED NOVEL DOCK6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453155.1 6 2.407199 KEEP 1 0 0 8 247 AA 0.99257 0.289832 0 - 3 60 84 0 0 6.479603 13 60 385 38 ENST00000294618.7 0.1875 0.292001 ZNF440 126070 __UNKNOWN__ __UNKNOWN__ 19 11945205 11945205 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:11945205A>G ENST00000304060.5 + 0 3378 NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 gcctcccaaaatgctgggatt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095252 CCDS42503.1 19p13.13 2013-01-08 2006-08-14 2006-08-14 ENSG00000171295 ENSG00000171295 126070 Zinc fingers, C2H2-type, - 20874 protein-coding gene gene with protein product NA Standard NM_152357 NM_152357 NA Approved FLJ37933 uc002msp.1 Q8IYI8 OTTHUMG00000156403 ENST00000304060.5:c.*1426A>G chr19.hg19:g.11945205A>G NA Q8N1R9 hg19 CCDS42503.1 0.02 1.900618 AAAxTGC COVERED NOVEL ZNF440-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344508.1 22 14.444678 KEEP 0 0 0 48 1548 AA 1 0.995687 0 + 6 60 207 0 0 15.235796 51 60 1509 160 ENST00000304060.5 0.105263 0.995687 ZNF69 7620 __UNKNOWN__ __UNKNOWN__ 19 12014178 12014178 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:12014178A>G ENST00000429654.2 + 2 203 ZNF69_ENST00000340180.5_Intron Q9UC07 ZNF69_HUMAN zinc finger protein 69 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|large_intestine(1)|skin(2) 4 Lung(535;0.011) agccgagatcacgccattgca 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X60076 CCDS32914.1 19p13.2 2013-01-08 2006-05-12 ENSG00000198429 ENSG00000198429 7620 Zinc fingers, C2H2-type, - 13138 protein-coding gene gene with protein product 194543 zinc finger protein 69 (Cos5) NA 1639391 Standard NM_021915 NM_021915 NA Approved Cos5 uc002mst.4 Q9UC07 OTTHUMG00000156526 ENST00000429654.2:c.64-210A>G chr19.hg19:g.12014178A>G NA Q86VA7 hg19 0.02 1.572852 ATCxCGC COVERED NOVEL ZNF69-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000344082.1 12 8.05821 KEEP 0 1 35 39 1206 AA 1 0.986153 0 + 4 60 125 0 0 8.124238 53 60 1542 128 ENST00000429654.2 0.070175 0.986153 ZNF69 7620 __UNKNOWN__ __UNKNOWN__ 19 12014184 12014184 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:12014184T>C ENST00000429654.2 + 2 203 ZNF69_ENST00000340180.5_Intron Q9UC07 ZNF69_HUMAN zinc finger protein 69 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|large_intestine(1)|skin(2) 4 Lung(535;0.011) gatcacgccattgcactccag 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X60076 CCDS32914.1 19p13.2 2013-01-08 2006-05-12 ENSG00000198429 ENSG00000198429 7620 Zinc fingers, C2H2-type, - 13138 protein-coding gene gene with protein product 194543 zinc finger protein 69 (Cos5) NA 1639391 Standard NM_021915 NM_021915 NA Approved Cos5 uc002mst.4 Q9UC07 OTTHUMG00000156526 ENST00000429654.2:c.64-204T>C chr19.hg19:g.12014184T>C NA Q86VA7 hg19 0.02 1.81854 CCAxTGC COVERED NOVEL ZNF69-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000344082.1 14 9.260741 KEEP 0 1 32 42 1278 TT 1 0.993703 0 + 4 60 136 0 0 9.190465 54 60 1581 137 ENST00000429654.2 0.068966 0.993703 ZNF763 284390 __UNKNOWN__ __UNKNOWN__ 19 12061694 12061694 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:12061694A>G ENST00000590798.1 + 1 199 ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron Q0D2J5 ZN763_HUMAN zinc finger protein 763 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 TGCAccgggcacagtggctca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092240 CCDS45982.1 19p13.2 2014-02-12 2006-08-14 ENSG00000197054 ENSG00000197054 284390 Zinc fingers, C2H2-type, - 27614 protein-coding gene gene with protein product NA Standard NM_001012753 NM_001012753 NA Approved ZNF440L Q0D2J5 OTTHUMG00000156430 ENST00000590798.1:c.63+25606A>G chr19.hg19:g.12061694A>G NA B3KRU3|B4DRE7 hg19 0.02 -0.315729 GGCxCAG COVERED NOVEL ZNF763-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000460442.1 4 3.746584 KEEP 0 1 39 26 801 AA 0.999988 0.835706 0 + 3 60 102 0 0 7.187081 32 60 939 90 ENST00000590798.1 0.085714 0.835716 ZNF763 284390 __UNKNOWN__ __UNKNOWN__ 19 12061705 12061705 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:12061705C>T ENST00000590798.1 + 1 199 ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron Q0D2J5 ZN763_HUMAN zinc finger protein 763 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 cagtggctcacgcctgtaatc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092240 CCDS45982.1 19p13.2 2014-02-12 2006-08-14 ENSG00000197054 ENSG00000197054 284390 Zinc fingers, C2H2-type, - 27614 protein-coding gene gene with protein product NA Standard NM_001012753 NM_001012753 NA Approved ZNF440L Q0D2J5 OTTHUMG00000156430 ENST00000590798.1:c.63+25617C>T chr19.hg19:g.12061705C>T NA B3KRU3|B4DRE7 hg19 0.02 -0.307019 TCAxGCC COVERED NOVEL ZNF763-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000460442.1 4 4.045819 KEEP 0 1 33 25 833 CC 0.999957 0.800211 0 + 3 60 95 0 0 6.527124 31 60 1008 83 ENST00000590798.1 0.088235 0.800245 ZNF844 284391 __UNKNOWN__ __UNKNOWN__ 19 12190523 12190523 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:12190523A>G ENST00000439326.3 + 0 4763 NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 actttgggagaccaaggcagg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832297 CCDS45985.1 19p13.2 2013-01-08 ENSG00000223547 ENSG00000223547 284391 Zinc fingers, C2H2-type, - 25932 protein-coding gene gene with protein product NA Standard NM_001136501 NA Approved FLJ14959 uc002mtb.2 Q08AG5 OTTHUMG00000156405 ENST00000439326.3:c.*2587A>G chr19.hg19:g.12190523A>G NA Q5JPI8 hg19 CCDS45985.1 0.02 1.836203 GAGxCCA COVERED NOVEL ZNF844-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344086.2 3 7.951324 KEEP 0 1 33 38 1125 AA 1 0.992094 0 + 4 60 132 0 0 8.731568 56 60 1542 130 ENST00000439326.3 0.066667 0.992094 ZNF490 57474 __UNKNOWN__ __UNKNOWN__ 19 12694134 12694134 __UNKNOWN__ Intron SNP C C T rs371206378 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:12694134C>T ENST00000311437.6 - 3 412 NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 attacaggcgcgagccaccgt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033024 CCDS12272.1 19p13.2 2013-01-08 ENSG00000188033 ENSG00000188033 57474 Zinc fingers, C2H2-type, - 23705 protein-coding gene gene with protein product NA Standard NM_020714 NM_020714 NA Approved KIAA1198 uc002mtz.2 Q9ULM2 OTTHUMG00000156398 ENST00000311437.6:c.289+109G>A chr19.hg19:g.12694134C>T NA hg19 CCDS12272.1 0.02 1.482314 GCGxGAG COVERED NOVEL ZNF490-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344073.1 4 6.524843 KEEP 0 3 92 54 1928 CC 1 0.984161 0 - 5 60 147 0 0 9.774873 51 60 1723 146 ENST00000311437.6 0.089286 0.984161 CTD-2192J16.22 0 __UNKNOWN__ __UNKNOWN__ 19 12754795 12754795 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:12754795G>A ENST00000597692.1 - 5 722 NA NA NA tatttttagtggagatggggt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000597692.1:c.593-35C>T chr19.hg19:g.12754795G>A NA hg19 0.02 -0.140344 AGTxGAG COVERED NOVEL CTD-2192J16.22-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000462694.1 1 4.815324 KEEP 0 0 0 16 542 GG 0.997832 0.260399 0 - 3 60 89 0 0 7.072298 12 60 394 36 ENST00000597692.1 0.2 0.260965 STX10 8677 __UNKNOWN__ __UNKNOWN__ 19 13255991 13255991 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:13255991C>T ENST00000587230.1 - 5 536 STX10_ENST00000242770.5_Intron|STX10_ENST00000589083.1_Intron|STX10_ENST00000343587.5_Intron NM_001271609.1 NP_001258538.1 O60499 STX10_HUMAN syntaxin 10 NA NA Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484) breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) ccagcctgggcgacaaagcga 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF035531 CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1 19p13.13 2008-07-22 ENSG00000104915 8677 11428 protein-coding gene gene with protein product 603765 NA 9446797 Standard NM_003765 NM_003765 NA Approved hsyn10, SYN10 uc021upq.2 O60499 ENST00000587230.1:c.471+110G>A chr19.hg19:g.13255991C>T NA A6NC41|Q6IAP4|Q96AE8 hg19 CCDS32922.1 0.02 4.559926 GGGxGAC COVERED NOVEL STX10-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452918.1 27 34.004737 KEEP 0 0 0 113 4016 CC 1 1 0 - 11 60 323 1 0 21.053965 123 60 4129 362 ENST00000587230.1 0.08209 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 16021100 16021100 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:16021100A>G NA NA CYP4F2 (12170 upstream) : CYP4F11 (2076 downstream) NA NA NA ggtggctcacacctgtaatcc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.16021100A>G NA hg19 0.02 1.8571 CACxCCT COVERED NOVEL 0 4 10.222615 KEEP 4 0 0 34 979 AA 0.999998 0.997551 0 4 60 135 0 0 8.730973 67 60 1873 146 0.056338 0.997553 CTD-3222D19.2 0 __UNKNOWN__ __UNKNOWN__ 19 16667761 16667761 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:16667761G>A ENST00000409035.1 - 6 1598 SLC35E1_ENST00000595753.1_Intron NA NA NA CAGCTTCTGCGGGGAACCTCA 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000409035.1:c.1282-3041C>T chr19.hg19:g.16667761G>A NA hg19 0.02 -0.289431 TGCxGGG COVERED NOVEL CTD-3222D19.2-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf nonsense_mediated_decay NA protein_coding OTTHUMT00000461092.1 4 9.630099 KEEP 0 0 0 32 1069 GG 0.999997 0.760885 0 - 4 60 114 0 0 8.135395 27 60 855 85 ENST00000409035.1 0.129032 0.760887 USE1 55850 __UNKNOWN__ __UNKNOWN__ 19 17328187 17328187 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:17328187T>C ENST00000263897.5 + 5 431 USE1_ENST00000445667.2_Intron|USE1_ENST00000596136.1_Intron|USE1_ENST00000595101.1_Intron|USE1_ENST00000379776.4_Intron NM_018467.3 NP_060937 Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog (S. cerevisiae) NA NA endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) breast(2)|endometrium(1)|lung(3) 6 tcaggtgatctgcccaccttg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 103 83 89 NA NA NA 19 NA NA 17328187 692 1591 2283 SO:0001627 intron_variant AF220052 CCDS46011.1 19p13.11 2007-08-20 ENSG00000053501 55850 30882 protein-coding gene gene with protein product Q-SNARE, SNARE-like tail-anchored protein 1 homolog (S. cerevisiae) 610675 NA 16354670, 15029241 Standard NM_018467 NM_018467 NA Approved p31, SLT1, MDS032 uc002nfo.2 Q9NZ43 ENST00000263897.5:c.385-75T>C chr19.hg19:g.17328187T>C NA Q8NCK1|Q9BRT4 hg19 CCDS46011.1 0.02 -0.420926 ATCxGCC COVERED NOVEL USE1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463295.1 3 11.731827 KEEP 0 0 0 39 1186 TT 1 0.948402 0 + 4 60 119 0 0 7.915047 42 70 1227 110 ENST00000263897.5 0.086957 0.948402 ANKLE1 126549 __UNKNOWN__ __UNKNOWN__ 19 17397479 17397479 __UNKNOWN__ 3'UTR SNP G G T rs11880549 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:17397479G>T ENST00000394458.3 + 0 2242 ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000598347.1_Silent_p.V583V NM_152363.4 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 NA NA large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 gtgtgtgtgtgtgtgtgtgtg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096688 CCDS12354.2, CCDS12354.3 19p13.11 2013-01-10 2008-03-25 2008-03-25 ENSG00000160117 ENSG00000160117 126549 Ankyrin repeat domain containing 26812 protein-coding gene gene with protein product LEM domain containing 6 ankyrin repeat domain 41 ANKRD41 NA Standard NM_152363 NM_152363 NA Approved FLJ39369, LEMD6 uc002nga.2 Q8NAG6 OTTHUMG00000150839 ENST00000394458.3:c.*118G>T chr19.hg19:g.17397479G>T NA A8VU82|Q8N8J8 hg19 CCDS12354.2 0.02 1.278684 TGTxTGT COVERED NOVEL ANKLE1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000325392.2 12 3.279229 KEEP 3 2 63 33 1101 GG 0.999998 0.996722 0 + 6 60 143 1 0 8.759019 55 60 1799 130 ENST00000394458.3 0.098361 0.996724 ANKLE1 126549 __UNKNOWN__ __UNKNOWN__ 19 17397483 17397483 __UNKNOWN__ 3'UTR SNP G G T rs367668712|rs60338123 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:17397483G>T ENST00000394458.3 + 0 2246 ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.V585L NM_152363.4 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 NA NA large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 gtgtgtgtgtgtgtgtgtgtg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096688 CCDS12354.2, CCDS12354.3 19p13.11 2013-01-10 2008-03-25 2008-03-25 ENSG00000160117 ENSG00000160117 126549 Ankyrin repeat domain containing 26812 protein-coding gene gene with protein product LEM domain containing 6 ankyrin repeat domain 41 ANKRD41 NA Standard NM_152363 NM_152363 NA Approved FLJ39369, LEMD6 uc002nga.2 Q8NAG6 OTTHUMG00000150839 ENST00000394458.3:c.*122G>T chr19.hg19:g.17397483G>T NA A8VU82|Q8N8J8 hg19 CCDS12354.2 0.02 0.790655 TGTxTGT COVERED . . . . . . . . . . g 7.620 0.676724 0.14841 . . ENSG00000160117 ENST00000438921 . . . 2.24 -0.708 0.11241 . . . . . T 0.27098 0.0664 . . . 0.80722 D 1 B 0.31548 0.328 B 0.19148 0.024 T 0.07770 -1.0755 6 . . . . 2.9012 0.05706 0.2004:0.2982:0.5014:0.0 . 585 E7ETZ9 . L 585 . . V + 1 0 ANKLE1 17258483 0.206000 0.23470 0.415000 0.26534 0.134000 0.20937 0.998000 0.29744 0.226000 0.20979 0.460000 0.39030 GTG NOVEL ANKLE1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000325392.2 17 8.460052 KEEP 3 1 28 38 1296 GG 1 0.997163 0 + 7 60 159 0 0 9.833149 55 60 1770 144 ENST00000394458.3 0.112903 0.997163 PGLS 25796 __UNKNOWN__ __UNKNOWN__ 19 17627913 17627913 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:17627913T>C ENST00000252603.2 + 3 440 NM_012088.2 NP_036220.1 O95336 6PGL_HUMAN 6-phosphogluconolactonase NA NA carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029) endometrium(1)|lung(1) 2 aggctggtcttgaactcctga 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ243972 CCDS12361.1 19p13.2 2008-02-05 ENSG00000130313 25796 3.1.1.31 8903 protein-coding gene gene with protein product 604951 NA 10518023 Standard NM_012088 NA Approved 6PGL uc002ngw.3 O95336 ENST00000252603.2:c.397-184T>C chr19.hg19:g.17627913T>C NA hg19 CCDS12361.1 0.02 -0.166618 TCTxGAA COVERED NOVEL PGLS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464154.1 7 3.008531 KEEP 6 0 0 10 296 TT 0.99254 0.351306 0 + 3 40 95 0 0 7.410563 15 60 429 42 ENST00000252603.2 0.166667 0.353947 JAK3 3718 __UNKNOWN__ __UNKNOWN__ 19 17948628 17948628 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:17948628G>T ENST00000527670.1 - 11 1731 JAK3_ENST00000534444.1_Intron|JAK3_ENST00000458235.1_Intron P52333 JAK3_HUMAN Janus kinase 3 NA NA B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 Tofacitinib(DB08895) gtgctgggatgacaggcatga 0.537 2 Mis acute megakaryocytic leukemia, ETP ALL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 19 19p13.1 3718 Janus kinase 3 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U31601 CCDS12366.1 19p13-p12 2014-09-17 2009-04-23 ENSG00000105639 ENSG00000105639 3718 2.7.10.1 6193 protein-coding gene gene with protein product tyrosine-protein kinase JAK3, leukocyte Janus kinase 600173 NA 8921370, 9226382 Standard NM_000215 NM_000215 NA Approved L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3 uc002nhn.4 P52333 OTTHUMG00000165648 ENST00000527670.1:c.1701+112C>A chr19.hg19:g.17948628G>T NA Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2 hg19 CCDS12366.1 0.02 1.232498 GATxACA COVERED NOVEL JAK3-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385549.1 9 4.081956 KEEP 0 2 61 35 1227 GG 1 0.992925 0 - 7 60 186 0 0 12.677496 51 60 1676 116 ENST00000527670.1 0.12069 0.992926 UBA52 7311 __UNKNOWN__ __UNKNOWN__ 19 18684711 18684711 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:18684711G>A ENST00000442744.2 + 3 248 UBA52_ENST00000595683.1_Intron|UBA52_ENST00000596273.1_Intron|UBA52_ENST00000597451.1_Intron|UBA52_ENST00000598780.1_Intron|UBA52_ENST00000430157.2_Intron|UBA52_ENST00000596304.1_Intron|UBA52_ENST00000595158.1_Intron|UBA52_ENST00000599595.1_Intron|UBA52_ENST00000599551.1_Intron|CRLF1_ENST00000594325.1_Intron NM_001033930.1 NP_001029102.1 P62987 RL40_HUMAN ubiquitin A-52 residue ribosomal protein fusion product 1 NA NA activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840) structural constituent of ribosome (GO:0003735) endometrium(1)|large_intestine(2) 3 ctgtaatcccggcactttggg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12382.1 19p13.1-p12 2011-04-06 ENSG00000221983 ENSG00000221983 7311 L ribosomal proteins 12458 protein-coding gene gene with protein product ribosomal protein L40, ubiquitin-52 amino acid fusion protein, ubiquitin carboxyl extension protein 52, 60S ribosomal protein L40, ubiquitin-CEP52 191321 NA 8188300 Standard NM_003333 XM_005260051 NA Approved RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40 uc002njs.3 P62987 ENST00000442744.2:c.190+153G>A chr19.hg19:g.18684711G>A NA P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7 hg19 CCDS12382.1 0.02 1.526329 CCCxGCA COVERED NOVEL UBA52-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465117.2 10 6.723524 KEEP 1 3 90 54 1845 GG 1 0.97082 0 + 7 60 204 1 0 15.224943 39 60 1221 129 ENST00000442744.2 0.152174 0.97082 GDF1 2657 __UNKNOWN__ __UNKNOWN__ 19 18993180 18993180 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:18993180A>G ENST00000247005.6 - 3 614 CERS1_ENST00000427170.2_Intron|CERS1_ENST00000542296.2_Intron|AC005197.2_ENST00000597769.1_RNA|CERS1_ENST00000429504.2_Intron P27539 GDF1_HUMAN growth differentiation factor 1 NA NA growth (GO:0040007) extracellular space (GO:0005615) NA ggtggctcacacctgtaatcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M62302 CCDS42526.1 19p13.11 2014-01-30 ENSG00000130283 ENSG00000130283 2657 Endogenous ligands 4214 protein-coding gene gene with protein product 602880 NA 2034669 Standard NM_001492 NM_001492 NA Approved P27539 ENST00000247005.6:c.731+1715T>C chr19.hg19:g.18993180A>G NA O43344 hg19 CCDS42526.1 0.02 -0.192925 CACxCCT COVERED NOVEL GDF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465926.1 5 3.008949 KEEP 1 0 0 10 306 AA 0.992708 0.454419 0 - 4 60 119 0 0 9.464129 16 60 461 44 ENST00000247005.6 0.2 0.457757 TMEM161A 54929 __UNKNOWN__ __UNKNOWN__ 19 19242658 19242658 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:19242658C>T ENST00000162044.9 - 5 508 TMEM161A_ENST00000587583.2_Intron|TMEM161A_ENST00000450333.2_Intron NM_017814.2 NP_060284.1 Q9NX61 T161A_HUMAN transmembrane protein 161A NA NA cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526) integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) ttagtagagacggggtttcac 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC005210 CCDS12393.1, CCDS58656.1 19p13.11 2008-02-05 ENSG00000064545 54929 26020 protein-coding gene gene with protein product NA 12975309 Standard NM_017814 NM_017814 NA Approved FLJ39645, FLJ20422 uc002nlg.4 Q9NX61 ENST00000162044.9:c.443+502G>A chr19.hg19:g.19242658C>T NA B3KUE0|G5E9M6|Q7L2Y1 hg19 CCDS12393.1 0.02 -0.421026 AGAxGGG COVERED NOVEL TMEM161A-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460089.2 33 5.116665 KEEP 10 0 0 17 600 CC 0.995343 0.950046 0 - 4 60 118 2 0 8.791863 23 60 750 106 ENST00000162044.9 0.148148 0.954491 ZNF253 56242 __UNKNOWN__ __UNKNOWN__ 19 20002725 20002725 __UNKNOWN__ Silent SNP C C T rs182870871 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:20002725C>T ENST00000355650.4 + 2 536 c.441C>T c.(439-441)acC>acT p.T147T ZNF253_ENST00000589717.1_Silent_p.T223T O75346 ZN253_HUMAN zinc finger protein 253 223 NA negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAATTCATACCGGAGAGAAAC 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C 0,4336 0,0,2168 38 42 41 NA 669 -1.8 0 19 41 2,8554 0,2,4276 no coding-synonymous ZNF253 NM_021047.2 0,2,6444 TT,TC,CC NA 0.0234,0.0,0.0155 223/500 20002725 2,12890 2168 4278 6446 SO:0001819 synonymous_variant AF038951 CCDS42532.1 19p12 2014-02-12 2003-12-17 ENSG00000256771 ENSG00000256771 56242 Zinc fingers, C2H2-type, - 13497 protein-coding gene gene with protein product 606954 zinc finger protein 411 ZNF411 NA 10585455 Standard NM_021047 NM_021047 NA Approved BMZF-1, FLJ90391 uc002noj.3 O75346 OTTHUMG00000182369 ENST00000355650.4:c.441C>T chr19.hg19:g.20002725C>T NA A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9 hg19 0.02 1.13148 TACxGGA COVERED NOVEL ZNF253-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000460803.1 9 10.703943 KEEP 1 2 64 58 1964 CC 1 0.999956 0 + 5 60 137 0 0 7.650034 88 60 2849 233 ENST00000355650.4 0.053763 0.999956 ZNF93 81931 __UNKNOWN__ __UNKNOWN__ 19 20045361 20045361 __UNKNOWN__ Missense_Mutation SNP A A G rs376739970 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:20045361A>G ENST00000343769.5 + 4 1625 c.1597A>G c.(1597-1599)Aga>Gga p.R533G AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 533 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 AATTCATACTAGAGAGAAACC 0.358 NA N||| 3 0.000599042 0 0 5008 , , NA 20559 0.003 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 A GLY/ARG 1,4387 0,1,2193 35 39 38 NA 1597 -1.6 0 19 38 0,8590 0,0,4295 no missense ZNF93 NM_031218.3 125 0,1,6488 GG,GA,AA NA 0.0,0.0228,0.0077 benign 533/621 20045361 1,12977 2194 4295 6489 SO:0001583 missense M61873 CCDS32973.1 19p12 2014-02-12 2006-05-12 ENSG00000184635 ENSG00000184635 81931 Zinc fingers, C2H2-type, - 13169 protein-coding gene gene with protein product 603975 zinc finger protein 505, zinc finger protein 93 (HTF34) ZNF505 NA 8467795, 2023909 Standard NM_031218 NM_031218 NA Approved HPF34, TF34, FLJ12488 uc002non.3 P35789 OTTHUMG00000182371 ENST00000343769.5:c.1597A>G chr19.hg19:g.20045361A>G ENSP00000342002:p.Arg533Gly NA A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8 hg19 CCDS32973.1 0.02 1.730912 ACTxGAG COVERED . . . . . . . . . . N 0.001 -2.940353 0.00052 2.28E-4 0.0 ENSG00000184635 ENST00000343769;ENST00000427325 T 0.00617 6.19 0.819 -1.64 0.08318 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00210 0.0006 N 0.00219 -1.825 0.22226 N 0.99928 B 0.02656 0.0 B 0.01281 0.0 T 0.37079 -0.9721 9 0.02654 T 1 . 5.1946 0.15230 0.5222:0.0:0.4778:0.0 . 533 P35789 ZNF93_HUMAN G 533;505 ENSP00000342002:R533G ENSP00000342002:R533G R + 1 2 ZNF93 19906361 0.586000 0.26782 0.003000 0.11579 0.003000 0.03518 0.694000 0.25512 -2.675000 0.00411 -2.678000 0.00142 AGA NOVEL ZNF93-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460808.2 12 12.168186 KEEP 1 1 36 53 1647 AA 1 0.998465 0 + 4 60 135 0 0 8.679871 69 60 2010 176 ENST00000343769.5 0.054795 0.998465 ZNF486 90649 __UNKNOWN__ __UNKNOWN__ 19 20302031 20302031 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:20302031T>A ENST00000335117.8 + 3 310 CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 ctgtaatccctgcactttggg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008936 CCDS46029.1 19p12 2014-02-13 2003-12-16 2003-12-17 ENSG00000256229 ENSG00000256229 90649 Zinc fingers, C2H2-type, - 20807 protein-coding gene gene with protein product KRAB domain only 2 KRBO2 NA Standard NM_052852 NM_052852 NA Approved MGC2396 uc002nou.3 Q96H40 OTTHUMG00000179731 ENST00000335117.8:c.253+5140T>A chr19.hg19:g.20302031T>A NA Q0VG00 hg19 CCDS46029.1 0.02 -0.236784 CCCxGCA COVERED NOVEL ZNF486-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447843.2 6 2.407169 KEEP 2 0 0 8 252 TT 0.99257 0.607857 0 + 7 60 198 0 0 17.162026 15 60 462 52 ENST00000335117.8 0.318182 0.612407 CTC-260E6.6 0 __UNKNOWN__ __UNKNOWN__ 19 20414064 20414064 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:20414064A>G ENST00000593655.1 - 0 120 NA NA NA ACACATAAGAAAATTCATACT 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000593655.1: chr19.hg19:g.20414064A>G NA hg19 0.02 1.812975 AGAxAAT COVERED NOVEL CTC-260E6.6-006 KNOWN basic antisense NA antisense OTTHUMT00000462901.1 8 10.531581 KEEP 0 0 0 35 1116 AA 0.999999 0.998866 0 - 4 60 134 0 0 8.533358 71 60 2072 148 ENST00000593655.1 0.053333 0.998867 CTC-260E6.6 0 __UNKNOWN__ __UNKNOWN__ 19 20414101 20414101 __UNKNOWN__ RNA SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:20414101C>A ENST00000593655.1 - 0 120 NA NA NA AATGTGAAGACTGTGGCAAAG 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000593655.1: chr19.hg19:g.20414101C>A NA hg19 0.02 1.192829 AGAxTGT COVERED NOVEL CTC-260E6.6-006 KNOWN basic antisense NA antisense OTTHUMT00000462901.1 7 9.865542 KEEP 0 1 23 41 1475 CC 1 0.999862 0 - 5 60 138 0 0 7.903738 82 60 2814 177 ENST00000593655.1 0.057471 0.999862 ZNF85 7639 __UNKNOWN__ __UNKNOWN__ 19 21120104 21120104 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:21120104T>G ENST00000328178.8 + 3 342 ZNF85_ENST00000300540.3_Intron|ZNF85_ENST00000597314.1_Intron|ZNF85_ENST00000601023.1_5'UTR|ZNF85_ENST00000596476.1_Intron|ZNF85_ENST00000345030.6_Intron NM_001256173.1|NM_003429.4 NP_001243102.1|NP_003420.2 Q03923 ZNF85_HUMAN zinc finger protein 85 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 ccaaagtgcttggattataga 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U35376 CCDS32977.1, CCDS58657.1 19p12 2013-01-08 2006-05-12 ENSG00000105750 7639 Zinc fingers, C2H2-type, - 13160 protein-coding gene gene with protein product 603899 zinc finger protein 85 (HPF4, HTF1) NA 2505992 Standard NM_003429 NM_003429 NA Approved HPF4, HTF1 uc031rjx.1 Q03923 ENST00000328178.8:c.229+2251T>G chr19.hg19:g.21120104T>G NA B9ZVP4|Q6NVI0 hg19 CCDS32977.1 0.02 -0.306883 GCTxGGA COVERED NOVEL ZNF85-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463430.1 6 3.609724 KEEP 0 0 0 12 355 TT 0.993634 0.795151 0 + 3 60 101 0 0 7.167647 30 60 869 66 ENST00000328178.8 0.090909 0.800245 ZNF85 7639 __UNKNOWN__ __UNKNOWN__ 19 21133015 21133015 __UNKNOWN__ Silent SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:21133015T>C ENST00000328178.8 + 4 1808 c.1695T>C c.(1693-1695)ccT>ccC p.P565P ZNF85_ENST00000601023.1_Silent_p.P506P|ZNF85_ENST00000345030.6_Silent_p.P532P NM_001256173.1|NM_003429.4 NP_001243102.1|NP_003420.2 Q03923 ZNF85_HUMAN zinc finger protein 85 565 NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 GAGAAAAACCTTACAAATGTG 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant U35376 CCDS32977.1, CCDS58657.1 19p12 2013-01-08 2006-05-12 ENSG00000105750 7639 Zinc fingers, C2H2-type, - 13160 protein-coding gene gene with protein product 603899 zinc finger protein 85 (HPF4, HTF1) NA 2505992 Standard NM_003429 NM_003429 NA Approved HPF4, HTF1 uc031rjx.1 Q03923 ENST00000328178.8:c.1695T>C chr19.hg19:g.21133015T>C NA B9ZVP4|Q6NVI0 hg19 CCDS32977.1 0.02 1.825082 ACCxTAC COVERED NOVEL ZNF85-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463430.1 11 9.622537 KEEP 1 0 0 32 1024 TT 0.999997 0.999765 0 + 5 60 168 1 0 11.097056 74 60 2215 158 ENST00000328178.8 0.063291 0.999768 ZNF431 170959 __UNKNOWN__ __UNKNOWN__ 19 21366471 21366471 __UNKNOWN__ Silent SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:21366471T>C ENST00000311048.7 + 5 1509 c.1365T>C c.(1363-1365)ccT>ccC p.P455P ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 455 NA cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 GAGAGAAACCTTACAAATGTG 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 39 42 41 NA NA NA 19 NA NA 21366471 2181 4286 6467 SO:0001819 synonymous_variant AB075849 CCDS32979.1 19p12 2013-01-08 ENSG00000196705 170959 Zinc fingers, C2H2-type, - 20809 protein-coding gene gene with protein product NA 11853319 Standard XM_086098 NM_133473 NA Approved KIAA1969 uc002npp.2 Q8TF32 ENST00000311048.7:c.1365T>C chr19.hg19:g.21366471T>C NA A8KAK7|Q8IWC4 hg19 CCDS32979.1 0.02 4.081966 ACCxTAC COVERED NOVEL ZNF431-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463943.1 14 11.67141 KEEP 0 1 38 52 1660 TT 1 0.999978 0 + 5 60 167 0 0 10.633014 88 60 2650 212 ENST00000311048.7 0.053763 0.999978 ZNF738 148203 __UNKNOWN__ __UNKNOWN__ 19 21561590 21561590 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:21561590A>G ENST00000311015.3 + 0 1930 ZNF738_ENST00000380870.4_3'UTR Q8NE65 ZN738_HUMAN zinc finger protein 738 NA NA protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842) kidney(1)|lung(1) 2 tagtagagacagggtttctcc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC034499 19p12 2013-01-16 ENSG00000172687 ENSG00000172687 148203 32469 other unknown NA Standard NR_027130 NR_027130 NA Approved uc002nps.4 Q8NE65 OTTHUMG00000141298 ENST00000311015.3:c.*1305A>G chr19.hg19:g.21561590A>G NA A8K4N7 hg19 0.02 1.467701 GACxGGG COVERED NOVEL ZNF738-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000280564.1 3 9.749974 KEEP 0 1 24 41 1211 AA 1 0.997163 0 + 7 60 193 0 0 12.959908 59 60 1670 116 ENST00000311015.3 0.106061 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 21567816 21567816 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:21567816G>A NA NA ZNF738 (5712 upstream) : ZNF493 (12104 downstream) NA NA NA CAAATGTGAAGAATGTGGCAA 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.21567816G>A NA hg19 0.02 -0.254403 GAAxAAT COVERED NOVEL 0 6 3.310367 KEEP 0 0 0 11 380 GG 0.993072 0.663892 0 3 47 91 1 0 6.443244 24 60 823 56 0.111111 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 21567829 21567829 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:21567829G>C NA NA ZNF738 (5725 upstream) : ZNF493 (12091 downstream) NA NA NA TGTGGCAAAGGCTTTGACTGG 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.21567829G>C NA hg19 0.02 -0.2544 AAGxCTT COVERED NOVEL 0 5 2.708882 KEEP 0 0 0 9 321 GG 0.99254 0.663536 0 3 47 102 0 0 7.542074 24 60 801 55 0.111111 0.668523 ZNF429 353088 __UNKNOWN__ __UNKNOWN__ 19 21720133 21720133 __UNKNOWN__ Missense_Mutation SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:21720133T>A ENST00000358491.4 + 4 1486 c.1278T>A c.(1276-1278)aaT>aaA p.N426K ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 426 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 AACCCTACAATTGTGAAGAAT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AY269786 CCDS42537.1 19p12 2014-02-14 ENSG00000197013 ENSG00000197013 353088 Zinc fingers, C2H2-type, - 20817 protein-coding gene gene with protein product NA Standard NM_001001415 NM_001001415 NA Approved uc002nqd.1 Q86V71 OTTHUMG00000182848 ENST00000358491.4:c.1278T>A chr19.hg19:g.21720133T>A ENSP00000351280:p.Asn426Lys NA A6NLV7|Q9BZE6 hg19 CCDS42537.1 0.02 2.675388 CAAxTGT COVERED . . . . . . . . . . . 0.001 -3.625700 0.00007 . . ENSG00000197013 ENST00000358491 T 0.06449 3.3 0.81 -1.62 0.08372 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00906 0.0030 N 0.00081 -2.22 0.09310 N 1 B 0.14012 0.009 B 0.04013 0.001 T 0.36432 -0.9748 9 0.02654 T 1 . 2.4122 0.04427 0.3241:0.2216:0.0:0.4543 . 426 Q86V71 ZN429_HUMAN K 426 ENSP00000351280:N426K ENSP00000351280:N426K N + 3 2 ZNF429 21511973 0.000000 0.05858 0.303000 0.25071 0.304000 0.27724 -5.363000 0.00128 -1.195000 0.02680 -1.194000 0.01681 AAT NOVEL ZNF429-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463981.1 13 11.463994 KEEP 0 1 25 47 1478 TT 1 0.999981 0 + 6 60 167 0 0 9.700991 95 60 2788 211 ENST00000358491.4 0.059406 0.999981 ZNF43 7594 __UNKNOWN__ __UNKNOWN__ 19 21991466 21991466 __UNKNOWN__ Missense_Mutation SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:21991466A>T ENST00000354959.4 - 4 1542 c.1373T>A c.(1372-1374)gTa>gAa p.V458E ZNF43_ENST00000595461.1_Missense_Mutation_p.V452E|ZNF43_ENST00000598381.1_Missense_Mutation_p.V452E|ZNF43_ENST00000594012.1_Missense_Mutation_p.V452E NM_003423.3 NP_003414.2 P17038 ZNF43_HUMAN zinc finger protein 43 458 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TTTGCCACATACTTCACATTT 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 59 61 61 NA NA NA 19 NA NA 21991466 2203 4299 6502 SO:0001583 missense X59244 CCDS12413.2, CCDS59367.1, CCDS74321.1 19p13.1-p12 2013-01-08 2006-05-11 ENSG00000198521 ENSG00000198521 7594 Zinc fingers, C2H2-type, - 13109 protein-coding gene gene with protein product 603972 zinc finger protein 39-like 1 (KOX 27), zinc finger protein 43 (HTF6) ZNF39L1 NA 1711675 Standard NM_003423 NM_001256649 NA Approved HTF6, KOX27 uc031rka.1 P17038 OTTHUMG00000128543 ENST00000354959.4:c.1373T>A chr19.hg19:g.21991466A>T ENSP00000347045:p.Val458Glu NA A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1 hg19 CCDS12413.2 0.02 2.875528 CATxCTT COVERED . . . . . . . . . . a 0.005 -2.161247 0.00321 . . ENSG00000198521 ENST00000397148;ENST00000354959 T 0.10960 2.82 1.75 0.522 0.17053 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.04092 0.0114 N 0.11154 0.105 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.44787 -0.9305 9 0.02654 T 1 . 5.9027 0.18976 0.2387:0.0:0.0:0.7613 . 458 P17038 ZNF43_HUMAN E 457;458 ENSP00000347045:V458E ENSP00000347045:V458E V - 2 0 ZNF43 21783306 0.000000 0.05858 0.004000 0.12327 0.817000 0.46193 0.176000 0.16782 -0.046000 0.13446 -1.060000 0.02296 GTA NOVEL ZNF43-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250380.2 17 10.294006 KEEP 0 2 47 51 1539 AA 1 0.999997 0 - 6 60 172 0 0 10.031816 102 60 2796 234 ENST00000354959.4 0.055556 0.999997 ZNF676 163223 __UNKNOWN__ __UNKNOWN__ 19 22363189 22363189 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:22363189C>T ENST00000397121.2 - 3 1647 c.1330G>A c.(1330-1332)Gct>Act p.A444T NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 444 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTCTCTCCAGCATGAATTCTC 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 93 94 94 NA NA NA 19 NA NA 22363189 2100 4246 6346 SO:0001583 missense AK097798 CCDS42539.1 19p12 2013-01-08 ENSG00000196109 163223 Zinc fingers, C2H2-type 20429 protein-coding gene gene with protein product NA Standard NM_001001411 NM_001001411 NA Approved uc002nqs.1 Q8N7Q3 ENST00000397121.2:c.1330G>A chr19.hg19:g.22363189C>T ENSP00000380310:p.Ala444Thr NA A8MVX5 hg19 CCDS42539.1 0.02 2.837228 CAGxATG COVERED . . . . . . . . . . . 0.009 -1.839206 0.00573 . . ENSG00000196109 ENST00000397121 T 0.11277 2.79 0.85 -1.7 0.08159 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.02267 0.0070 N 0.01140 -0.99 0.22317 N 0.999202 B 0.10296 0.003 B 0.15052 0.012 T 0.36962 -0.9726 9 0.02654 T 1 . 2.6088 0.04885 0.2297:0.2124:0.0:0.558 . 444 Q8N7Q3 ZN676_HUMAN T 444 ENSP00000380310:A444T ENSP00000380310:A444T A - 1 0 ZNF676 22155029 0.020000 0.18652 0.044000 0.18714 0.044000 0.14063 -0.116000 0.10724 -1.149000 0.02843 -1.152000 0.01820 GCT NOVEL ZNF676-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464392.1 28 7.026422 KEEP 40 3 87 54 1970 CC 1 0.999991 0 - 8 60 223 0 0 13.924467 95 60 3256 289 ENST00000397121.2 0.07767 0.999991 ZNF676 163223 __UNKNOWN__ __UNKNOWN__ 19 22379302 22379302 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:22379302G>A ENST00000397121.2 - 1 352 NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) gtctttgtctgtattctcgca 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097798 CCDS42539.1 19p12 2013-01-08 ENSG00000196109 163223 Zinc fingers, C2H2-type 20429 protein-coding gene gene with protein product NA Standard NM_001001411 NM_001001411 NA Approved uc002nqs.1 Q8N7Q3 ENST00000397121.2:c.34+99C>T chr19.hg19:g.22379302G>A NA A8MVX5 hg19 CCDS42539.1 0.02 -0.122801 TCTxTAT COVERED NOVEL ZNF676-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464392.1 3 5.718566 KEEP 0 0 0 19 668 GG 0.99986 0.196284 0 - 3 60 81 0 0 6.373052 11 60 372 33 ENST00000397121.2 0.214286 0.196312 ZNF729 100287226 __UNKNOWN__ __UNKNOWN__ 19 22497090 22497090 __UNKNOWN__ Missense_Mutation SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:22497090A>C ENST00000601693.1 + 4 989 c.871A>C c.(871-873)Acc>Ccc p.T291P ZNF729_ENST00000357491.6_Missense_Mutation_p.T291P A6NN14 ZN729_HUMAN zinc finger protein 729 291 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(5)|central_nervous_system(1)|lung(32)|ovary(3) 41 TGGAGAGAAAACCTACAAATG 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59368.1 19p12 2014-02-14 ENSG00000196350 ENSG00000196350 100287226 Zinc fingers, C2H2-type, - 32464 protein-coding gene gene with protein product NA Standard XM_496301 NM_001242680 NA Approved uc021urs.1 A6NN14 OTTHUMG00000182938 ENST00000601693.1:c.871A>C chr19.hg19:g.22497090A>C ENSP00000469582:p.Thr291Pro NA M0QY45 hg19 CCDS59368.1 0.02 1.777858 AAAxCCT COVERED . . . . . . . . . . . 0.007 -1.975800 0.00452 . . ENSG00000196350 ENST00000357491 T 0.03004 4.08 1.21 -0.29 0.12847 . . . . . T 0.00552 0.0018 N 0.00016 -2.86 . . . . . . . . . T 0.44907 -0.9297 6 0.02654 T 1 . 7.0211 0.24914 0.2776:0.7224:0.0:0.0 . . . . P 291 ENSP00000350085:T291P ENSP00000350085:T291P T + 1 0 ZNF729 22288930 0.193000 0.23313 0.007000 0.13788 0.097000 0.18754 1.297000 0.33400 -0.480000 0.06803 -0.782000 0.03352 ACC NOVEL ZNF729-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464396.1 11 9.628753 KEEP 0 0 0 32 1016 AA 0.999997 0.999315 0 + 4 60 131 0 0 8.256427 70 60 2103 169 ENST00000601693.1 0.054054 0.999317 ZNF729 100287226 __UNKNOWN__ __UNKNOWN__ 19 22497365 22497365 __UNKNOWN__ Silent SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:22497365T>C ENST00000601693.1 + 4 1264 c.1146T>C c.(1144-1146)ggT>ggC p.G382G ZNF729_ENST00000357491.6_Silent_p.G382G A6NN14 ZN729_HUMAN zinc finger protein 729 382 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(5)|central_nervous_system(1)|lung(32)|ovary(3) 41 AAGAATGTGGTAAAGCTTTTA 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS59368.1 19p12 2014-02-14 ENSG00000196350 ENSG00000196350 100287226 Zinc fingers, C2H2-type, - 32464 protein-coding gene gene with protein product NA Standard XM_496301 NM_001242680 NA Approved uc021urs.1 A6NN14 OTTHUMG00000182938 ENST00000601693.1:c.1146T>C chr19.hg19:g.22497365T>C NA M0QY45 hg19 CCDS59368.1 0.02 1.751736 TGGxAAA COVERED NOVEL ZNF729-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464396.1 15 10.831254 KEEP 9 0 0 36 1097 TT 0.999999 0.999621 0 + 4 60 138 0 0 8.750736 79 60 2244 167 ENST00000601693.1 0.048193 0.999622 ZNF98 148198 __UNKNOWN__ __UNKNOWN__ 19 22654544 22654544 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:22654544T>A ENST00000599879.1 - 2 147 A6NK75 ZNF98_HUMAN zinc finger protein 98 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TTCATACTGGTGAGAAACCCT 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46031.1 19p12 2014-02-14 2010-04-20 2008-06-12 ENSG00000197360 ENSG00000197360 148198 Zinc fingers, C2H2-type, - 13174 protein-coding gene gene with protein product zinc finger protein 739 603980 NA Standard NM_001098626 NM_001098626 NA Approved ZNF739, F7175 uc002nqt.2 A6NK75 OTTHUMG00000182940 ENST00000599879.1:c.346-35736A>T chr19.hg19:g.22654544T>A NA hg19 0.02 1.351359 TGGxGAG COVERED NOVEL ZNF98-005 PUTATIVE basic processed_transcript NA protein_coding OTTHUMT00000464565.1 10 9.626973 KEEP 0 0 0 32 973 TT 0.999997 0.998198 0 - 5 60 155 0 0 10.071066 65 60 1868 145 ENST00000599879.1 0.071429 0.9982 CTC-457E21.9 0 __UNKNOWN__ __UNKNOWN__ 19 22869262 22869262 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:22869262G>A ENST00000601860.1 - 0 340 NA NA NA TAAACATAAGGTAATTCATAC 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000601860.1: chr19.hg19:g.22869262G>A NA hg19 0.02 0.975901 AAGxTAA COVERED . . . . . . . . . . . 0.175 -1.067287 0.01934 . . ENSG00000198153 ENST00000340708 . . . 0.819 -0.506 0.11989 . . . . . T 0.25680 0.0625 . . . . . . . . . . . . T 0.31696 -0.9934 4 0.24483 T 0.36 . 3.3544 0.07164 0.6241:0.0:0.3759:0.0 . . . . I 432 . ENSP00000342595:V432I V + 1 0 AC011467.1 22661102 0.000000 0.05858 0.013000 0.15412 0.013000 0.08279 -3.720000 0.00384 0.283000 0.22279 0.289000 0.19496 GTA NOVEL CTC-457E21.9-001 KNOWN basic antisense NA antisense OTTHUMT00000464586.1 12 4.684142 KEEP 13 2 58 36 1274 GG 1 0.999407 0 - 5 29 139 0 0 8.178658 75 60 2533 191 ENST00000601860.1 0.0625 0.999407 ZNF99 7652 __UNKNOWN__ __UNKNOWN__ 19 22940494 22940494 __UNKNOWN__ Silent SNP A A G rs375070319 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:22940494A>G ENST00000596209.1 - 4 2307 c.2217T>C c.(2215-2217)ggT>ggC p.G739G ZNF99_ENST00000397104.3_Silent_p.G648G NM_001080409.2 NP_001073878.2 A8MXY4 ZNF99_HUMAN zinc finger protein 99 739 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TAAAAGCTTTACCACATTCTT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 A 0,3726 0,0,1863 26 27 27 NA 1944 -1.5 0 19 27 1,8009 0,1,4004 no coding-synonymous ZNF99 NM_001080409.2 0,1,5867 GG,GA,AA NA 0.0125,0.0,0.0085 648/912 22940494 1,11735 1863 4005 5868 SO:0001819 synonymous_variant BC021822 CCDS59369.1 19p12 2013-01-08 2006-01-17 ENSG00000213973 ENSG00000213973 7652 Zinc fingers, C2H2-type, - 13175 protein-coding gene gene with protein product 603981 zinc finger protein 99 (F8281), chromosome 19 open reading frame 9 C19orf9 NA Standard XM_065124 NM_001080409 NA Approved MGC24986 uc021urt.1 A8MXY4 ENST00000596209.1:c.2217T>C chr19.hg19:g.22940494A>G NA M0R335 hg19 CCDS59369.1 0.02 1.830695 TTTxCCA COVERED NOVEL ZNF99-001 NOVEL not_best_in_genome_evidence|basic|CCDS protein_coding NA protein_coding OTTHUMT00000464591.1 15 12.334338 KEEP 19 0 0 41 1227 AA 1 0.998465 0 - 4 60 133 0 0 8.505056 68 60 1899 181 ENST00000596209.1 0.055556 0.998465 ZNF724P 440519 __UNKNOWN__ __UNKNOWN__ 19 23405690 23405690 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:23405690T>C ENST00000418100.1 - 4 1474 c.1357A>G c.(1357-1359)Aaa>Gaa p.K453E A8MTY0 ZN724_HUMAN zinc finger protein 724, pseudogene 453 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 CCACATTCTTTACATTTGTAG 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 19p12 2014-02-14 2010-08-03 ENSG00000196081 ENSG00000196081 440519 32460 pseudogene pseudogene zinc finger protein 724 pseudogene, zinc finger protein 724 (pseudogene) NA Standard NR_045525 NA Approved uc021uru.1 A8MTY0 OTTHUMG00000183231 ENST00000418100.1:c.1357A>G chr19.hg19:g.23405690T>C ENSP00000413411:p.Lys453Glu NA hg19 0.02 3.847915 CTTxACA COVERED . . . . . . . . . . T 0.005 -2.213355 0.00289 . . ENSG00000196081 ENST00000418100 T 0.07567 3.18 1.09 -2.18 0.07037 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.02267 0.0070 . . . 0.09310 N 1 B 0.06786 0.001 B 0.01281 0.0 T 0.39961 -0.9588 8 0.02654 T 1 . 0.8343 0.01137 0.1816:0.1689:0.3599:0.2896 . 453 A8MTY0 ZN724_HUMAN E 453 ENSP00000413411:K453E ENSP00000413411:K453E K - 1 0 ZNF724P 23197530 0.000000 0.05858 0.855000 0.33649 0.836000 0.47400 -4.779000 0.00187 -1.521000 0.01771 -1.556000 0.00890 AAA NOVEL ZNF724P-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000465743.1 14 5.815188 KEEP 0 3 96 53 1565 TT 1 0.999987 0 - 7 60 231 0 0 15.371937 95 60 2581 211 ENST00000418100.1 0.068627 0.999987 ZNF724P 440519 __UNKNOWN__ __UNKNOWN__ 19 23410095 23410095 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:23410095G>A ENST00000418100.1 - 4 344 A8MTY0 ZN724_HUMAN zinc finger protein 724, pseudogene NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 ggtggctcacgcctgtaatcc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 19p12 2014-02-14 2010-08-03 ENSG00000196081 ENSG00000196081 440519 32460 pseudogene pseudogene zinc finger protein 724 pseudogene, zinc finger protein 724 (pseudogene) NA Standard NR_045525 NA Approved uc021uru.1 A8MTY0 OTTHUMG00000183231 ENST00000418100.1:c.227-3275C>T chr19.hg19:g.23410095G>A NA hg19 0.02 -0.245185 CACxCCT COVERED NOVEL ZNF724P-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000465743.1 7 2.708711 KEEP 6 0 0 9 325 GG 0.99257 0.636582 0 - 4 60 100 0 0 7.105472 22 60 711 61 ENST00000418100.1 0.153846 0.641347 ZNF91 7644 __UNKNOWN__ __UNKNOWN__ 19 23542073 23542073 __UNKNOWN__ 3'UTR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:23542073T>G ENST00000300619.7 - 0 3913 ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) cgcccaggcttgagtgcagtg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M61871 CCDS42541.1, CCDS74322.1 19p12 2014-02-04 2006-05-12 ENSG00000167232 ENSG00000167232 7644 Zinc fingers, C2H2-type, - 13166 protein-coding gene gene with protein product 603971 zinc finger protein 91 (HPF7, HTF10) NA 2023909, 2505992 Standard NM_003430 XR_430154 NA Approved HPF7, HTF10 uc002nre.3 Q05481 OTTHUMG00000183268 ENST00000300619.7:c.*132A>C chr19.hg19:g.23542073T>G NA A8K5E1|B7Z6G6 hg19 CCDS42541.1 0.02 -0.359587 GCTxGAG COVERED NOVEL ZNF91-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465891.1 3 4.814437 KEEP 1 0 0 16 496 TT 0.999366 0.898744 0 - 3 60 99 0 0 6.775805 35 60 1034 74 ENST00000300619.7 0.078947 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 23630487 23630487 __UNKNOWN__ IGR SNP G G A rs551602108 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:23630487G>A NA NA CTB-175P5.4 (39594 upstream) : ZNF675 (77945 downstream) NA NA NA gaggccgggcgcggtggctca 0.483 NA -||| 3 0.000599042 8e-04 0 5008 , , NA 12682 0.001 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.23630487G>A NA hg19 0.02 -0.184206 GGCxCGG COVERED NOVEL 0 8 2.70864 KEEP 9 0 0 9 301 GG 0.99257 0.420331 0 3 60 93 1 1 7.060969 17 60 560 53 0.15 0.423478 ZNF726 730087 __UNKNOWN__ __UNKNOWN__ 19 24115772 24115772 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:24115772G>A ENST00000334589.5 + 4 344 CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000594466.1_Missense_Mutation_p.C285Y|ZNF726_ENST00000575986.1_Intron|ZNF726_ENST00000322487.7_Missense_Mutation_p.C285Y A6NNF4 ZN726_HUMAN zinc finger protein 726 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA GAGAAACCCTGCAAATGTGAA 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant DQ036016, BC046415 CCDS59372.1 19p12 2013-01-08 ENSG00000213967 ENSG00000213967 730087 Zinc fingers, C2H2-type, - 32462 protein-coding gene gene with protein product NA Standard XM_001715134 NM_001244038 NA Approved uc021urw.1 A6NNF4 OTTHUMG00000167681 ENST00000334589.5:c.227-10524G>A chr19.hg19:g.24115772G>A NA M0R0X8|Q86Y87 hg19 0.02 0.933858 CCTxCAA COVERED . . . . . . . . . . g 0.001 -3.422244 0.00013 . . ENSG00000213967 ENST00000322487 T 0.12039 2.72 0.814 -1.63 0.08345 . . . . . T 0.03520 0.0101 . . . 0.09310 N 0.999996 . . . . . . T 0.43972 -0.9358 6 0.02654 T 1 . 3.9753 0.09472 0.0:0.0:0.3831:0.6168 . . . . Y 285 ENSP00000317125:C285Y ENSP00000317125:C285Y C + 2 0 ZNF726 23907612 0.000000 0.05858 0.281000 0.24762 0.282000 0.26991 -5.003000 0.00161 0.183000 0.20059 0.186000 0.17326 TGC NOVEL ZNF726-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395815.2 8 17.457141 KEEP 2 1 31 69 2451 GG 1 0.999948 0 + 5 60 138 0 0 7.726703 89 60 3016 235 ENST00000334589.5 0.053191 0.999948 ZNF254 9534 __UNKNOWN__ __UNKNOWN__ 19 24310163 24310163 __UNKNOWN__ Missense_Mutation SNP G G T rs367945545 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:24310163G>T ENST00000357002.4 + 4 1476 c.1361G>T c.(1360-1362)aGa>aTa p.R454I ZNF254_ENST00000342944.6_Missense_Mutation_p.R369I NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 454 NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AAACATAAGAGAATTCATACT 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G ILE/ARG 1,4401 2.1+/-5.4 0,1,2200 46 49 48 NA 1361 1.1 0 19 48 0,8594 0,0,4297 no missense ZNF254 NM_203282.2 97 0,1,6497 TT,TG,GG NA 0.0,0.0227,0.0077 benign 454/660 24310163 1,12995 2201 4297 6498 SO:0001583 missense AF054180 CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1 19p13 2013-01-08 ENSG00000213096 9534 Zinc fingers, C2H2-type, - 13047 protein-coding gene gene with protein product 604768 zinc finger protein 539 ZNF91L, ZNF539 NA 9653160 Standard NM_004876 NM_001278661 NA Approved HD-ZNF1, BMZF-5 uc002nru.3 O75437 ENST00000357002.4:c.1361G>T chr19.hg19:g.24310163G>T ENSP00000349494:p.Arg454Ile NA A4QPC0|Q86XL7 hg19 CCDS32983.1 0.02 2.799726 AGAxAAT COVERED . . . . . . . . . . G 5.812 0.334186 0.11013 2.27E-4 0.0 ENSG00000213096 ENST00000342944;ENST00000357002 T;T 0.02446 4.29;4.29 1.07 1.07 0.20283 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.03477 0.0100 L 0.52573 1.65 0.40384 D 0.979474 B 0.23650 0.089 B 0.24541 0.054 T 0.38929 -0.9638 9 0.51188 T 0.08 . 7.6087 0.28118 0.0:0.0:1.0:0.0 . 454 O75437 ZN254_HUMAN I 369;454 ENSP00000445527:R369I;ENSP00000349494:R454I ENSP00000445527:R369I R + 2 0 ZNF254 24102003 0.003000 0.15002 0.049000 0.19019 0.365000 0.29674 1.253000 0.32886 0.525000 0.28522 0.298000 0.19748 AGA NOVEL ZNF254-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466453.1 15 14.914693 KEEP 0 2 61 71 2501 GG 1 0.999978 0 + 6 60 164 0 0 9.712144 84 60 2855 236 ENST00000357002.4 0.066667 0.999978 ZNF254 9534 __UNKNOWN__ __UNKNOWN__ 19 24310294 24310294 __UNKNOWN__ Missense_Mutation SNP T T G rs554981870 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:24310294T>G ENST00000357002.4 + 4 1607 c.1492T>G c.(1492-1494)Tct>Gct p.S498A ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 498 NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 62 61 NA NA NA 19 NA NA 24310294 2201 4297 6498 SO:0001583 missense AF054180 CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1 19p13 2013-01-08 ENSG00000213096 9534 Zinc fingers, C2H2-type, - 13047 protein-coding gene gene with protein product 604768 zinc finger protein 539 ZNF91L, ZNF539 NA 9653160 Standard NM_004876 NM_001278661 NA Approved HD-ZNF1, BMZF-5 uc002nru.3 O75437 ENST00000357002.4:c.1492T>G chr19.hg19:g.24310294T>G ENSP00000349494:p.Ser498Ala NA A4QPC0|Q86XL7 hg19 CCDS32983.1 0.02 3.265919 AAAxCTT COVERED . . . . . . . . . . T 0.001 -3.794782 0.00004 . . ENSG00000213096 ENST00000342944;ENST00000357002 T;T 0.35605 1.3;1.3 1.07 -0.329 0.12686 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.12689 0.0308 N 0.04686 -0.185 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.32322 -0.9911 9 0.02654 T 1 . 5.3479 0.16020 0.0:0.0:0.4143:0.5857 . 498 O75437 ZN254_HUMAN A 413;498 ENSP00000445527:S413A;ENSP00000349494:S498A ENSP00000445527:S413A S + 1 0 ZNF254 24102134 0.000000 0.05858 0.038000 0.18304 0.305000 0.27757 -1.126000 0.03254 -0.309000 0.08779 -0.762000 0.03455 TCT NOVEL ZNF254-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466453.1 11 16.517857 KEEP 0 2 72 80 2487 TT 1 1 0 + 6 60 197 0 0 12.183356 116 60 3409 276 ENST00000357002.4 0.04918 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 27732070 27732070 __UNKNOWN__ IGR SNP A A T rs74197639 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:27732070A>T NA NA None (None upstream) : CTB-151G24.1 (397320 downstream) NA NA NA gctagacagaagaattctcag 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.27732070A>T NA hg19 0.02 21.708008 AGAxGAA COVERED NOVEL 0 316 56.957887 KEEP 119 37 1180 603 19783 AA 1 1 0 28 60 835 0 1 57.003627 260 60 7859 1937 0.097222 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 27732110 27732110 __UNKNOWN__ IGR SNP C C G rs146290295 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:27732110C>G NA NA None (None upstream) : CTB-151G24.1 (397280 downstream) NA NA NA gtattcaactcacagagttga 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.27732110C>G NA hg19 0.02 18.347221 ACTxACA COVERED NOVEL 0 190 3.492192 KEEP 72 33 1096 395 13697 CC 1 1 0 27 60 880 0 0 67.638773 156 60 5098 1206 0.147541 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 31650828 31650828 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:31650828C>G NA NA AC020952.1 (10071 upstream) : CTC-439O9.3 (7593 downstream) NA NA NA aaactcctgacctcaagcaat 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.31650828C>G NA hg19 0.02 -0.201759 TGAxCTC COVERED NOVEL 0 6 3.009378 KEEP 0 0 0 10 344 CC 0.992708 0.486967 0 3 60 103 0 0 8.060491 17 60 560 47 0.15 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 32236091 32236091 __UNKNOWN__ IGR SNP T T C rs10426733 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:32236091T>C NA NA RNA5SP471 (89724 upstream) : RNU6-967P (41962 downstream) NA NA NA tgtggtggcttacgcctgtaa 0.433 NA C||| 96 0.0191693 0.0688 0.0029 5008 , , NA 16514 0 NA 0.003 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.32236091T>C NA hg19 0.02 -0.218605 GCTxACG COVERED NOVEL 0 5 3.309221 KEEP 0 0 0 11 320 TT 0.993072 0.549057 0 3 60 100 0 0 7.63209 19 60 495 52 0.136364 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 32236094 32236094 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:32236094G>A NA NA RNA5SP471 (89727 upstream) : RNU6-967P (41959 downstream) NA NA NA ggtggcttacgcctgtaatcc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.32236094G>A NA hg19 0.02 -0.236786 TACxCCT COVERED NOVEL 0 5 3.31004 KEEP 0 0 0 11 363 GG 0.993072 0.608164 0 3 60 91 0 0 6.606521 21 60 666 53 0.125 0.612407 CTC-360P9.5 0 __UNKNOWN__ __UNKNOWN__ 19 32425553 32425553 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:32425553A>G ENST00000593211.1 - 0 409 NA NA NA gggattacagaaatgagccac 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000593211.1: chr19.hg19:g.32425553A>G NA hg19 0.02 -0.210484 CAGxAAT COVERED NOVEL CTC-360P9.5-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000451919.1 2 2.707898 KEEP 0 0 0 9 275 AA 0.992708 0.518353 0 - 3 60 101 0 0 7.605633 21 60 610 51 ENST00000593211.1 0.125 0.522161 ANKRD27 84079 __UNKNOWN__ __UNKNOWN__ 19 33106460 33106460 __UNKNOWN__ Intron SNP G G A rs28412545 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:33106460G>A ENST00000306065.4 - 22 2334 NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) NA NA early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547) cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) actgcactccggcctgggtga 0.498 NA G||| 402 0.0802716 0.2905 0.0231 5008 , , NA 20647 0 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK054561 CCDS32986.1 19q13.12 2013-01-10 ENSG00000105186 84079 Ankyrin repeat domain containing 25310 protein-coding gene gene with protein product Vps9 domain and ankyrin-repeat-containing protein NA 11230166, 16525121 Standard NM_032139 NM_032139 NA Approved FLJ00040, DKFZp434L0718, VARP uc002ntn.1 Q96NW4 ENST00000306065.4:c.2175+103C>T chr19.hg19:g.33106460G>A NA Q71MF5|Q86UC3|Q8ND80|Q9H0I4 hg19 CCDS32986.1 0.02 1.401027 TCCxGCC COVERED NOVEL ANKRD27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450329.1 5 5.370195 KEEP 0 0 0 18 545 GG 0.999859 0.979388 0 - 4 60 120 0 0 7.824957 47 60 1509 89 ENST00000306065.4 0.078431 0.979526 ANKRD27 84079 __UNKNOWN__ __UNKNOWN__ 19 33106476 33106476 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:33106476C>T ENST00000306065.4 - 22 2334 NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) NA NA early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547) cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) ggtgacagaacgagaccctgt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK054561 CCDS32986.1 19q13.12 2013-01-10 ENSG00000105186 84079 Ankyrin repeat domain containing 25310 protein-coding gene gene with protein product Vps9 domain and ankyrin-repeat-containing protein NA 11230166, 16525121 Standard NM_032139 NM_032139 NA Approved FLJ00040, DKFZp434L0718, VARP uc002ntn.1 Q96NW4 ENST00000306065.4:c.2175+87G>A chr19.hg19:g.33106476C>T NA Q71MF5|Q86UC3|Q8ND80|Q9H0I4 hg19 CCDS32986.1 0.02 1.342233 GAAxGAG COVERED NOVEL ANKRD27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450329.1 7 3.143089 KEEP 1 1 30 21 715 CC 0.999879 0.998079 0 - 6 60 168 1 0 10.888064 62 60 2017 136 ENST00000306065.4 0.088235 0.9982 ANKRD27 84079 __UNKNOWN__ __UNKNOWN__ 19 33109731 33109731 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:33109731T>C ENST00000306065.4 - 20 2166 NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) NA NA early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547) cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) gcaggagaattgcttgaacct 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK054561 CCDS32986.1 19q13.12 2013-01-10 ENSG00000105186 84079 Ankyrin repeat domain containing 25310 protein-coding gene gene with protein product Vps9 domain and ankyrin-repeat-containing protein NA 11230166, 16525121 Standard NM_032139 NM_032139 NA Approved FLJ00040, DKFZp434L0718, VARP uc002ntn.1 Q96NW4 ENST00000306065.4:c.2007+434A>G chr19.hg19:g.33109731T>C NA Q71MF5|Q86UC3|Q8ND80|Q9H0I4 hg19 CCDS32986.1 0.02 -0.105239 AATxGCT UNCOVERED NOVEL ANKRD27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450329.1 2 2.406626 KEEP 2 0 0 8 240 TT 0.99257 0.138793 0 - 3 60 89 0 0 7.53256 8 60 228 30 ENST00000306065.4 0.272727 0.139832 SLC7A9 11136 __UNKNOWN__ __UNKNOWN__ 19 33351364 33351364 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:33351364A>G ENST00000023064.4 - 7 941 SLC7A9_ENST00000587772.1_Intron|SLC7A9_ENST00000590341.1_Intron NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810) brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) gcaacagagcaagactctgtc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(181;1335 2108 9644 44178 46689) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF141289 CCDS12425.1 19q13.11 2013-07-19 2013-07-19 ENSG00000021488 ENSG00000021488 11136 Solute carriers 11067 protein-coding gene gene with protein product 604144 CSNU3 NA 10471498 Standard NM_014270 NA Approved uc021usa.1 P82251 OTTHUMG00000180287 ENST00000023064.4:c.749+147T>C chr19.hg19:g.33351364A>G NA B2R9A6 hg19 CCDS12425.1 0.02 -0.377092 AGCxAGA COVERED NOVEL SLC7A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450585.1 12 2.541286 KEEP 3 1 33 20 618 AA 0.999863 0.908944 0 - 3 60 92 1 0 6.354069 28 60 824 85 ENST00000023064.4 0.096774 0.909069 CEP89 84902 __UNKNOWN__ __UNKNOWN__ 19 33417725 33417725 __UNKNOWN__ Intron SNP T T C rs141229819 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:33417725T>C ENST00000305768.5 - 10 1169 NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa NA NA cilium assembly (GO:0042384) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922) breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 gcctcagccttccaaagtgct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832158 CCDS32987.1 19q13.11 2014-02-20 2011-05-06 2011-05-06 ENSG00000121289 84902 25907 protein-coding gene gene with protein product 615470 coiled-coil domain containing 123 CCDC123 NA 16395595 Standard NM_032816 NM_032816 NA Approved FLJ14640 uc002nty.3 Q96ST8 ENST00000305768.5:c.1080+114A>G chr19.hg19:g.33417725T>C NA B9EGA6|Q8N5J8 hg19 CCDS32987.1 0.02 -0.368197 CCTxCCA COVERED NOVEL CEP89-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000451300.2 3 4.494713 KEEP 0 0 0 15 399 TT 0.99649 0.896158 0 - 3 60 98 0 0 6.788364 32 60 882 76 ENST00000305768.5 0.085714 0.899314 RHPN2 85415 __UNKNOWN__ __UNKNOWN__ 19 33500238 33500238 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:33500238A>T ENST00000254260.3 - 7 629 RHPN2_ENST00000400226.4_Intron NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) ggctcatgccagtaatcccag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF268032 CCDS12427.1 19q13.12 2008-02-05 ENSG00000131941 85415 19974 protein-coding gene gene with protein product NA 12221077 Standard NM_033103 NM_033103 NA Approved uc002nuf.3 Q8IUC4 ENST00000254260.3:c.594-1152T>A chr19.hg19:g.33500238A>T NA B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1 hg19 CCDS12427.1 0.02 2.74571 GCCxGTA COVERED NOVEL RHPN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450828.2 17 12.862659 KEEP 0 1 29 53 1637 AA 1 1 0 - 14 60 425 0 0 30.637395 102 60 3013 272 ENST00000254260.3 0.12069 1 RHPN2 85415 __UNKNOWN__ __UNKNOWN__ 19 33500263 33500263 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:33500263A>G ENST00000254260.3 - 7 629 RHPN2_ENST00000400226.4_Intron NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) ttgggaggccaaggcggTATG 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF268032 CCDS12427.1 19q13.12 2008-02-05 ENSG00000131941 85415 19974 protein-coding gene gene with protein product NA 12221077 Standard NM_033103 NM_033103 NA Approved uc002nuf.3 Q8IUC4 ENST00000254260.3:c.594-1177T>C chr19.hg19:g.33500263A>G NA B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1 hg19 CCDS12427.1 0.02 5.297135 GCCxAGG COVERED NOVEL RHPN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450828.2 41 17.087732 KEEP 0 1 38 70 2192 AA 1 1 0 - 13 60 431 0 1 29.917534 142 60 4201 393 ENST00000254260.3 0.083871 1 RHPN2 85415 __UNKNOWN__ __UNKNOWN__ 19 33517507 33517507 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:33517507C>T ENST00000254260.3 - 3 252 c.217G>A c.(217-219)Gtg>Atg p.V73M RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 73 NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) p.V73M(2) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) TCCAGCCGCACTTGCTCCCGC 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) NS(1)|skin(1) 84 83 83 NA NA NA 19 NA NA 33517507 2203 4300 6503 SO:0001583 missense AF268032 CCDS12427.1 19q13.12 2008-02-05 ENSG00000131941 85415 19974 protein-coding gene gene with protein product NA 12221077 Standard NM_033103 NM_033103 NA Approved uc002nuf.3 Q8IUC4 ENST00000254260.3:c.217G>A chr19.hg19:g.33517507C>T ENSP00000254260:p.Val73Met NA B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1 hg19 CCDS12427.1 0.02 2.280513 GCAxTTG COVERED . . . . . . . . . . C 18.08 3.542997 0.65198 . . ENSG00000131941 ENST00000254260 T 0.39787 1.06 3.88 3.88 0.44766 . 0.000000 0.85682 D 0.000000 T 0.64853 0.2636 M 0.79475 2.455 0.80722 D 1 D 0.89917 1.0 D 0.74674 0.984 T 0.71984 -0.4427 10 0.87932 D 0 11.9954 16.025 0.80536 0.0:1.0:0.0:0.0 . 73 Q8IUC4 RHPN2_HUMAN M 73 ENSP00000254260:V73M ENSP00000254260:V73M V - 1 0 RHPN2 38209347 1.000000 0.71417 1.000000 0.80357 0.343000 0.28985 7.267000 0.78462 2.167000 0.68274 0.557000 0.71058 GTG NOVEL RHPN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450828.2 3 13.211373 KEEP 1 2 66 67 2407 CC 1 1 0 - 11 49 301 0 0 18.34284 138 60 4726 318 ENST00000254260.3 0.073826 1 WDR88 126248 __UNKNOWN__ __UNKNOWN__ 19 33662146 33662146 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:33662146C>T ENST00000355868.3 + 10 1225 WDR88_ENST00000361680.2_Intron NM_173479.3 NP_775750.3 Q6ZMY6 WDR88_HUMAN WD repeat domain 88 NA NA breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) cctgccttggcctctcaaagt 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031227 CCDS12429.1 19q13.11 2013-01-09 2007-04-04 2007-04-04 ENSG00000166359 126248 WD repeat domain containing 26999 protein-coding gene gene with protein product PQQ repeat and WD repeat domain containing PQWD NA 12477932 Standard NM_173479 NM_173479 NA Approved uc002nui.3 Q6ZMY6 ENST00000355868.3:c.1150-1108C>T chr19.hg19:g.33662146C>T NA Q8NEF8 hg19 CCDS12429.1 0.02 -0.122811 TGGxCTC UNCOVERED NOVEL WDR88-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450840.1 7 2.407985 KEEP 2 0 0 8 293 CC 0 0 0 + 3 60 88 0 0 7.072814 11 60 379 32 ENST00000355868.3 0.214286 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 34621218 34621218 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:34621218T>C NA NA RN7SL150P (202688 upstream) : LSM14A (42211 downstream) NA NA NA gaggccgaggtgggcagatca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.34621218T>C NA hg19 0.02 -0.235316 AGGxGGG COVERED NOVEL 0 10 3.009504 KEEP 6 0 0 10 328 TT 0.99254 0.607839 0 3 60 91 0 0 6.617848 21 60 578 74 0.125 0.612407 KIAA0355 9710 __UNKNOWN__ __UNKNOWN__ 19 34802980 34802980 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:34802980T>C ENST00000299505.6 + 3 1368 NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 NA NA breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) ctgggcctcctaaagtgctgg 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12436.1 19q13.12 2012-11-29 ENSG00000166398 ENSG00000166398 9710 29016 protein-coding gene gene with protein product NA 9205841 Standard NM_014686 NM_014686 NA Approved uc002nvd.4 O15063 OTTHUMG00000180505 ENST00000299505.6:c.496-7832T>C chr19.hg19:g.34802980T>C NA Q2M3W4 hg19 CCDS12436.1 0.02 -0.236817 TCCxAAA COVERED NOVEL KIAA0355-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451678.4 9 3.00908 KEEP 0 0 0 10 311 TT 0.992708 0.607941 0 + 5 60 169 0 0 14.056712 18 60 527 54 ENST00000299505.6 0.217391 0.612407 FXYD3 5349 __UNKNOWN__ __UNKNOWN__ 19 35614272 35614272 __UNKNOWN__ Intron SNP A A G rs937088|rs111876747 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:35614272A>G ENST00000344013.6 + 8 443 FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000346446.5_Intron|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000435734.2_Intron|FXYD3_ENST00000604804.1_Intron Q14802 FXYD3_HUMAN FXYD domain containing ion transport regulator 3 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085) chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) chloride channel activity (GO:0005254) endometrium(1)|lung(2)|prostate(1) 4 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) gtgtgtgtgtatgtgtgtgtT 0.547 NA G||| 1940 0.38738 0.3328 0.3458 5008 , , NA 18267 0.3155 NA 0.3946 False NA ,,, NA NA NA 2504 0.5573 NA NA NA NA 0 G ,,,, 33,1351 1,31,660 207 188 194 NA ,,,, -0.6 0 19 dbSNP_86 194 99,3083 0,99,1492 no intron,intron,intron,intron,intron FXYD3 NM_001136007.1,NM_001136011.1,NM_001136012.1,NM_005971.3,NM_021910.2 ,,,, 1,130,2152 GG,GA,AA NA 3.1113,2.3844,2.8909 ,,,, ,,,, 35614272 132,4434 692 1591 2283 SO:0001627 intron_variant X93036 CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1 19q13.11-q13.12 2008-05-14 2002-01-14 ENSG00000089356 5349 4027 protein-coding gene gene with protein product 604996 FXYD domain-containing ion transport regulator 3 PLML NA 7836447, 10950925 Standard NM_021910 NM_005971 NA Approved MAT-8 uc010xsm.2 Q14802 ENST00000344013.6:c.247+60A>G chr19.hg19:g.35614272A>G NA A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59 hg19 CCDS12442.1 0.02 1.625866 TGTxTGT COVERED NOVEL FXYD3-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000468985.1 6 14.438467 KEEP 0 0 0 48 1398 AA 1 0.999768 0 + 6 70 208 0 0 14.248822 79 60 2167 174 ENST00000344013.6 0.070588 0.999768 RBM42 79171 __UNKNOWN__ __UNKNOWN__ 19 36123765 36123765 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:36123765G>A ENST00000262633.4 + 5 547 RBM42_ENST00000592202.1_Intron|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000589871.1_Intron|RBM42_ENST00000588161.1_Intron|RBM42_ENST00000360475.4_Intron|RBM42_ENST00000586618.1_Intron NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) acacacacacgcatgcacaca 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004204 CCDS12468.1 19q13.12 2013-02-12 ENSG00000126254 79171 RNA binding motif (RRM) containing 28117 protein-coding gene gene with protein product 613232 NA 12477932 Standard NM_024321 NM_024321 NA Approved MGC10433 uc002oan.3 Q9BTD8 ENST00000262633.4:c.443-73G>A chr19.hg19:g.36123765G>A NA O00320|Q8N5R7|Q9BU66 hg19 CCDS12468.1 0.02 -0.263073 CACxCAT COVERED NOVEL RBM42-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459057.2 1 4.210465 KEEP 0 0 0 14 416 GG 0.995343 0.690438 0 + 4 60 111 2 0 7.89675 26 60 788 47 ENST00000262633.4 0.133333 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 36176521 36176521 __UNKNOWN__ IGR SNP C C T rs538275220 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:36176521C>T NA NA UPK1A (7154 upstream) : ZBTB32 (18907 downstream) NA NA NA catgagccaccgcacctggcc 0.443 NA C||| 1 0.000199681 0 0 5008 , , NA 16325 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.36176521C>T NA hg19 0.02 -0.210525 CACxGCA COVERED NOVEL 0 13 2.407177 KEEP 0 0 0 8 248 CC 0.99257 0.518282 0 3 60 92 0 1 6.892463 18 60 578 41 0.142857 0.522161 C19orf55 0 __UNKNOWN__ __UNKNOWN__ 19 36253348 36253348 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:36253348A>G ENST00000536950.1 + 0 668 C19orf55_ENST00000537459.1_3'UTR|C19orf55_ENST00000396908.4_Intron|C19orf55_ENST00000544099.1_Intron|C19orf55_ENST00000421853.2_3'UTR Q2NL68 PRSR3_HUMAN NA NA cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) agtggctcacacctgtaatcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000536950.1:c.*49A>G chr19.hg19:g.36253348A>G NA Q8NDI3|Q8WWC8|Q96NL4 hg19 0.02 3.860048 CACxCCT COVERED NOVEL C19orf55-012 NOVEL NAGNAG_splice_site|basic protein_coding NA protein_coding OTTHUMT00000398164.2 14 10.098285 KEEP 3 2 70 58 1757 AA 1 0.999997 0 + 7 60 224 0 0 14.523231 100 60 2820 205 ENST00000536950.1 0.065421 0.999997 APLP1 333 __UNKNOWN__ __UNKNOWN__ 19 36369434 36369434 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:36369434T>C ENST00000221891.4 + 14 1771 APLP1_ENST00000537454.2_Intron|APLP1_ENST00000586861.1_Intron|APLP1_ENST00000589298.2_3'UTR NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417) basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914) breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ggtgacagagtgagactctgt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 25 26 26 NA NA NA 19 NA NA 36369434 1568 3582 5150 SO:0001627 intron_variant U48437 CCDS32997.1 19q 2008-07-15 333 597 protein-coding gene gene with protein product amyloid-like protein 1, amyloid precursor-like protein 1 104775 NA 8432545 Standard NM_001024807 NM_001024807 NA Approved APLP uc002ocf.3 P51693 ENST00000221891.4:c.1580-52T>C chr19.hg19:g.36369434T>C NA O00113|Q96A92 hg19 CCDS32997.1 0.02 1.544011 GAGxGAG COVERED NOVEL APLP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452564.1 9 7.21919 KEEP 3 0 0 24 693 TT 0.999909 0.999635 0 + 4 60 129 1 0 8.010602 72 60 1962 154 ENST00000221891.4 0.052632 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 36423602 36423602 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:36423602A>G NA NA TYROBP (24405 upstream) : LRFN3 (2657 downstream) NA NA NA tgtaatcccaacactttggga 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.36423602A>G NA hg19 0.02 -0.192925 CCAxCAC COVERED NOVEL 0 2 2.708443 KEEP 0 0 0 9 290 AA 0.99254 0.454342 0 4 60 127 0 0 10.265031 16 60 485 48 0.2 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 36800360 36800360 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:36800360C>G NA NA ZNF565 (63201 upstream) : CTD-3162L10.1 (899 downstream) NA NA NA ccgccgcaacctccagcaccg 0.741 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.36800360C>G NA hg19 0.02 3.519638 AACxTCC COVERED NOVEL 0 0 2.638042 KEEP 63 1 35 21 711 CC 0.997832 0.997831 0 6 30 195 0 0 11.983875 116 60 3980 402 0.04918 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 36800384 36800384 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:36800384C>A NA NA ZNF565 (63225 upstream) : CTD-3162L10.1 (875 downstream) NA NA NA ccccaggccccgcagccgccg 0.756 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.36800384C>A NA hg19 0.02 2.580915 CCCxGCA COVERED NOVEL 0 0 2.976721 KEEP 58 1 22 18 564 CC 0.99649 0.99649 0 6 20 175 0 0 10.12608 110 60 3598 354 0.051724 1 ZNF566 84924 __UNKNOWN__ __UNKNOWN__ 19 36937267 36937267 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:36937267G>A ENST00000454319.1 - 0 4006 ZNF566_ENST00000434377.2_3'UTR NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) tccgcctcccgggttcaagcg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074497 CCDS12494.1, CCDS46061.1, CCDS74346.1 19q13.12 2013-01-08 84924 Zinc fingers, C2H2-type, - 25919 protein-coding gene gene with protein product NA 12477932 Standard NM_032838 NM_001145343 NA Approved FLJ14779, MGC12515 uc010xtf.2 Q969W8 ENST00000454319.1:c.*2612C>T chr19.hg19:g.36937267G>A NA B7ZL95|Q2M3J1 hg19 CCDS46061.1 0.02 1.438585 CCCxGGT COVERED NOVEL ZNF566-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109555.2 10 2.843636 KEEP 0 1 30 20 695 GG 0.999869 0.991964 0 - 5 60 132 0 0 8.218706 53 60 1718 100 ENST00000454319.1 0.086207 0.992094 ZNF260 339324 __UNKNOWN__ __UNKNOWN__ 19 37002521 37002521 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:37002521G>C ENST00000523638.1 - 0 4741 ZNF260_ENST00000592282.1_3'UTR NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 NA NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) ccattgcactgcagcctgggc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK122854 CCDS33003.1 19q13.12 2013-01-08 ENSG00000254004 339324 Zinc fingers, C2H2-type 13499 protein-coding gene gene with protein product 613749 NA Standard NM_001012756 NM_001166036 NA Approved ozrf1, Zfp260 uc002oed.2 Q3ZCT1 ENST00000523638.1:c.*2381C>G chr19.hg19:g.37002521G>C NA Q0VF43 hg19 CCDS33003.1 0.02 1.62306 ACTxCAG COVERED NOVEL ZNF260-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109564.2 12 4.538271 KEEP 2 1 34 27 928 GG 0.999997 0.998864 0 - 5 60 161 0 0 10.803142 61 60 2010 133 ENST00000523638.1 0.075758 0.998867 ZNF382 84911 __UNKNOWN__ __UNKNOWN__ 19 37104604 37104604 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:37104604A>G ENST00000435416.1 + 2 1727 ZNF382_ENST00000292928.2_Intron|ZNF382_ENST00000423582.1_Intron|ZNF382_ENST00000439428.1_Intron Q96SR6 ZN382_HUMAN zinc finger protein 382 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) agcctcccaaagtgctgggat 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF513816 CCDS33004.1, CCDS58659.1 19q13.13 2013-01-08 ENSG00000161298 ENSG00000161298 84911 Zinc fingers, C2H2-type, - 17409 protein-coding gene gene with protein product 609516 NA Standard NM_032825 NM_032825 NA Approved FLJ14686, KS1 uc010efb.4 Q96SR6 OTTHUMG00000048153 ENST00000435416.1:c.232+2960A>G chr19.hg19:g.37104604A>G NA A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2 hg19 0.02 -0.140338 CAAxGTG COVERED NOVEL ZNF382-004 KNOWN basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000340399.1 9 2.708294 KEEP 2 0 0 9 289 AA 0.99254 0.259018 0 + 3 60 106 0 0 8.772138 12 60 362 39 ENST00000435416.1 0.2 0.260965 ZNF585B 92285 __UNKNOWN__ __UNKNOWN__ 19 37681187 37681187 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:37681187C>G ENST00000532828.2 - 3 324 ZNF585B_ENST00000527838.1_Intron|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_5'UTR|ZNF585B_ENST00000586320.1_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ttgctctgttccccaggctgg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(93;882 1454 18863 28917 48427) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027834 CCDS12500.1 19q13.13 2013-01-08 ENSG00000245680 92285 Zinc fingers, C2H2-type, - 30948 protein-coding gene gene with protein product NA 12477932 Standard NM_152279 NM_152279 NA Approved FLJ14928, SZFP41 uc002ofq.3 Q52M93 ENST00000532828.2:c.73-135G>C chr19.hg19:g.37681187C>G NA Q8IZD3|Q96JW6 hg19 CCDS12500.1 0.02 3.743415 GTTxCCC COVERED NOVEL ZNF585B-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388272.2 12 17.196808 KEEP 1 4 143 107 3656 CC 1 1 0 - 5 60 165 0 0 10.274332 95 60 3141 310 ENST00000532828.2 0.05 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 37772433 37772433 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:37772433C>T NA NA CTD-3220F14.1 (10013 upstream) : HKR1 (31305 downstream) NA NA NA cctccggagaccgtcctggta 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.37772433C>T NA hg19 0.02 -0.131583 AGAxCGT COVERED NOVEL 0 0 2.707234 KEEP 13 0 0 9 295 CC 0.99257 0.22747 0 3 25 90 0 0 7.172188 12 40 402 42 0.2 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 37784554 37784554 __UNKNOWN__ IGR SNP C C A rs4806419 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:37784554C>A NA NA CTD-3220F14.1 (22134 upstream) : HKR1 (19184 downstream) NA NA NA CGCACAGGGCCCATGTGTCCC 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.37784554C>A NA hg19 0.02 1.118485 GGCxCAT COVERED NOVEL 0 4 4.347656 KEEP 17 1 27 24 832 CC 0.999879 0.998746 0 7 47 184 0 0 11.618882 69 48 2224 144 0.092105 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 37784701 37784701 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:37784701G>A NA NA CTD-3220F14.1 (22281 upstream) : HKR1 (19037 downstream) NA NA NA gacacgcactgcgcgcgcaca 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.37784701G>A NA hg19 0.02 3.700182 ACTxCGC COVERED NOVEL 0 53 3.771836 KEEP 38 2 58 33 1109 GG 0.999997 0.999997 0 13 60 353 1 0 22.101088 143 60 4803 294 0.083333 1 HKR1 284459 __UNKNOWN__ __UNKNOWN__ 19 37807484 37807484 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:37807484A>C ENST00000591471.1 + 1 476 P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member NA NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) gttgcccaggatggtctcgaa 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M20675 CCDS12502.1 19q13.13 2013-01-08 2010-05-04 ENSG00000181666 284459 Zinc fingers, C2H2-type, - 4928 protein-coding gene gene with protein product oncogene HKR1 165250 GLI-Kruppel family member HKR1 NA 2850480, 9813242 Standard NM_181786 NM_181786 NA Approved ZNF875 uc002ogb.3 P10072 ENST00000591471.1:c.-1166+3270A>C chr19.hg19:g.37807484A>C NA A8MRS7|Q6PJD0|Q9BSW9|Q9UM09 hg19 0.02 -0.149095 AGGxTGG COVERED NOVEL HKR1-007 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000458357.1 9 2.70817 KEEP 1 0 0 9 282 AA 0.99257 0.289832 0 + 4 59 131 0 0 10.981262 13 60 379 27 ENST00000591471.1 0.235294 0.292001 HKR1 284459 __UNKNOWN__ __UNKNOWN__ 19 37822371 37822371 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:37822371A>C ENST00000591471.1 + 4 713 HKR1_ENST00000544914.1_Intron P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member NA NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ccattttgttatgtactaaga 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M20675 CCDS12502.1 19q13.13 2013-01-08 2010-05-04 ENSG00000181666 284459 Zinc fingers, C2H2-type, - 4928 protein-coding gene gene with protein product oncogene HKR1 165250 GLI-Kruppel family member HKR1 NA 2850480, 9813242 Standard NM_181786 NM_181786 NA Approved ZNF875 uc002ogb.3 P10072 ENST00000591471.1:c.-929+6533A>C chr19.hg19:g.37822371A>C NA A8MRS7|Q6PJD0|Q9BSW9|Q9UM09 hg19 0.02 -0.359444 GTTxTGT COVERED NOVEL HKR1-007 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000458357.1 8 4.210201 KEEP 17 0 0 14 400 AA 0.993634 0.883216 0 + 3 40 102 0 0 6.973365 38 60 1026 93 ENST00000591471.1 0.073171 0.888875 ZNF793 390927 __UNKNOWN__ __UNKNOWN__ 19 38023513 38023513 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38023513A>G ENST00000588578.1 + 6 628 ZNF793_ENST00000587143.1_Intron|ZNF793_ENST00000542455.1_Intron|ZNF793_ENST00000587986.1_Intron|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Intron Q6ZN11 ZN793_HUMAN zinc finger protein 793 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) aggagtttgaaacctgcctgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(44;400 1431 1499 19093) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131417 CCDS46062.1 19q13.12 2013-01-08 ENSG00000188227 390927 Zinc fingers, C2H2-type, - 33115 protein-coding gene gene with protein product NA Standard NM_001013659 NM_001013659 NA Approved uc010efm.3 Q6ZN11 ENST00000588578.1:c.142+129A>G chr19.hg19:g.38023513A>G NA E9PGN4|Q7Z3Q9 hg19 0.02 -0.306668 TGAxACC COVERED NOVEL ZNF793-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000458623.1 2 2.706141 KEEP 0 0 0 9 250 AA 0.99254 0.794276 0 + 3 60 91 0 0 6.300544 27 60 688 51 ENST00000588578.1 0.1 0.800245 ZNF793 390927 __UNKNOWN__ __UNKNOWN__ 19 38023517 38023517 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38023517T>A ENST00000588578.1 + 6 628 ZNF793_ENST00000587143.1_Intron|ZNF793_ENST00000542455.1_Intron|ZNF793_ENST00000587986.1_Intron|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Intron Q6ZN11 ZN793_HUMAN zinc finger protein 793 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) gtttgaaacctgcctggccag 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(44;400 1431 1499 19093) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131417 CCDS46062.1 19q13.12 2013-01-08 ENSG00000188227 390927 Zinc fingers, C2H2-type, - 33115 protein-coding gene gene with protein product NA Standard NM_001013659 NM_001013659 NA Approved uc010efm.3 Q6ZN11 ENST00000588578.1:c.142+133T>A chr19.hg19:g.38023517T>A NA E9PGN4|Q7Z3Q9 hg19 0.02 -0.306934 ACCxGCC COVERED NOVEL ZNF793-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000458623.1 2 2.708003 KEEP 0 0 0 9 280 TT 0.99254 0.794276 0 + 4 60 102 0 0 7.000585 26 60 765 48 ENST00000588578.1 0.133333 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 38035512 38035512 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38035512C>T NA NA ZNF793 (1275 upstream) : CTD-3064H18.4 (859 downstream) NA NA NA ttagtagagacggggtttcac 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.38035512C>T NA hg19 0.02 -0.140314 AGAxGGG COVERED NOVEL 0 12 3.310542 KEEP 6 0 0 11 368 CC 0.99254 0.259018 0 4 50 114 1 0 9.531371 11 60 348 37 0.266667 0.260965 ZNF571 51276 __UNKNOWN__ __UNKNOWN__ 19 38056763 38056763 __UNKNOWN__ Intron SNP C C G rs8111790 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38056763C>G ENST00000590751.1 - 5 320 ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.Q189H|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000328550.2_Missense_Mutation_p.Q189H|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.Q189H|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.Q189H|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTCACCAGTCTGAATTCTCT 0.343 NA C||| 901 0.179912 0.0885 0.2651 5008 , , NA 21454 0.0288 NA 0.3618 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 C HIS/GLN 587,3819 258.6+/-262.5 37,513,1653 93 93 93 NA 567 -7 0 19 dbSNP_116 93 3138,5462 476.9+/-369.5 580,1978,1742 yes missense ZNF571 NM_016536.3 24 617,2491,3395 GG,GC,CC NA 36.4884,13.3227,28.6406 benign 189/610 38056763 3725,9281 2203 4300 6503 SO:0001627 intron_variant AF161544 CCDS12505.1 19q13.12 2013-09-20 ENSG00000180479 ENSG00000180479 51276 Zinc fingers, C2H2-type, - 25000 protein-coding gene gene with protein product NA 11042152 Standard NM_016536 XM_005258977 NA Approved HSPC059 uc002ogt.3 Q7Z3V5 OTTHUMG00000182016 ENST00000590751.1:c.137-9700G>C chr19.hg19:g.38056763C>G NA Q2HIY0|Q3ZCU3|Q9NZX7 hg19 0.02 -0.192989 AGTxTGA COVERED 437 0.2000915750915751 42 0.08536585365853659 95 0.26243093922651933 21 0.03671328671328671 279 0.36807387862796836 C 0.983 -0.696452 0.03279 0.133227 0.364884 ENSG00000180479 ENST00000328550;ENST00000451802;ENST00000358744 T;T;T 0.01584 4.75;4.75;4.75 3.49 -6.98 0.01611 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00012 0.0000 N 0.00022 -2.725 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.04013 0.001 T 0.44651 -0.9314 8 0.02654 T 1 . 3.9809 0.09495 0.5001:0.1224:0.2896:0.0879 rs8111790;rs52805879;rs8111790 189 Q7Z3V5 ZN571_HUMAN H 189 ENSP00000333660:Q189H;ENSP00000392638:Q189H;ENSP00000351594:Q189H ENSP00000333660:Q189H Q - 3 2 ZNF571 42748603 0.000000 0.05858 0.000000 0.03702 0.706000 0.40770 -2.048000 0.01406 -1.791000 0.01261 0.313000 0.20887 CAG NOVEL ZNF571-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000458666.1 1 6.018875 KEEP 0 0 0 20 670 CC 0.999863 0.457694 0 - 4 60 139 0 0 11.368347 17 60 577 49 ENST00000590751.1 0.190476 0.457757 ZFP30 22835 __UNKNOWN__ __UNKNOWN__ 19 38135343 38135343 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38135343T>G ENST00000351218.2 - 4 694 ZFP30_ENST00000514101.2_Intron|ZFP30_ENST00000392144.1_Intron|ZFP30_ENST00000589018.1_Intron NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) gctgaggcagtagaatcgctt 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023178 CCDS33005.1 19q13.13 2013-01-08 2012-11-27 ENSG00000120784 ENSG00000120784 22835 Zinc fingers, C2H2-type, - 29555 protein-coding gene gene with protein product zinc finger protein 30 homolog (mouse) NA 10231032 Standard NM_014898 NM_014898 NA Approved ZNF745, KIAA0961 uc002ogx.1 Q9Y2G7 OTTHUMG00000048177 ENST00000351218.2:c.136+167A>C chr19.hg19:g.38135343T>G NA Q58EY8 hg19 CCDS33005.1 0.02 -0.359352 CAGxAGA COVERED NOVEL ZFP30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109601.2 1 5.542535 KEEP 1 1 36 31 882 TT 0.999997 0.888873 0 - 4 60 128 1 0 9.208379 33 60 859 79 ENST00000351218.2 0.108108 0.888875 ZFP30 22835 __UNKNOWN__ __UNKNOWN__ 19 38135403 38135403 __UNKNOWN__ Intron SNP T T C rs2972458 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38135403T>C ENST00000351218.2 - 4 694 ZFP30_ENST00000514101.2_Intron|ZFP30_ENST00000392144.1_Intron|ZFP30_ENST00000589018.1_Intron NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ccactgcacttcagcctggtg 0.493 NA C||| 3173 0.633586 0.649 0.7349 5008 , , NA 17324 0.3472 NA 0.831 False NA ,,, NA NA NA 2504 0.6329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023178 CCDS33005.1 19q13.13 2013-01-08 2012-11-27 ENSG00000120784 ENSG00000120784 22835 Zinc fingers, C2H2-type, - 29555 protein-coding gene gene with protein product zinc finger protein 30 homolog (mouse) NA 10231032 Standard NM_014898 NM_014898 NA Approved ZNF745, KIAA0961 uc002ogx.1 Q9Y2G7 OTTHUMG00000048177 ENST00000351218.2:c.136+107A>G chr19.hg19:g.38135403T>C NA Q58EY8 hg19 CCDS33005.1 0.02 1.473537 ACTxCAG COVERED NOVEL ZFP30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109601.2 5 20.741049 KEEP 0 0 0 69 2062 TT 1 0.999895 0 - 5 60 175 0 0 11.553972 83 60 2349 213 ENST00000351218.2 0.056818 0.999895 SIPA1L3 23094 __UNKNOWN__ __UNKNOWN__ 19 38492290 38492290 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38492290T>C ENST00000222345.6 + 2 131 SIPA1L3_ENST00000476317.2_Intron NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 NA NA hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056) extracellular space (GO:0005615) GTPase activator activity (GO:0005096) NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) tggtctcaaattcctgggctc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011117 CCDS33007.1 19q13.13 2008-02-05 ENSG00000105738 ENSG00000105738 23094 23801 protein-coding gene gene with protein product NA Standard XM_032278 XM_005258671 NA Approved KIAA0545 uc002ohk.3 O60292 OTTHUMG00000073727 ENST00000222345.6:c.-378-27439T>C chr19.hg19:g.38492290T>C NA Q2TV87 hg19 CCDS33007.1 0.02 -0.210468 AAAxTCC COVERED NOVEL SIPA1L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000156294.2 5 2.708582 KEEP 0 0 0 9 298 TT 0.99254 0.518266 0 + 3 60 94 0 0 7.027853 19 60 562 47 ENST00000222345.6 0.136364 0.522161 SIPA1L3 23094 __UNKNOWN__ __UNKNOWN__ 19 38599368 38599368 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38599368A>G ENST00000222345.6 + 8 2642 CTC-450M9.1_ENST00000599092.1_RNA NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 NA NA hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056) extracellular space (GO:0005615) GTPase activator activity (GO:0005096) NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ggtggctcacacctgtaatcc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011117 CCDS33007.1 19q13.13 2008-02-05 ENSG00000105738 ENSG00000105738 23094 23801 protein-coding gene gene with protein product NA Standard XM_032278 XM_005258671 NA Approved KIAA0545 uc002ohk.3 O60292 OTTHUMG00000073727 ENST00000222345.6:c.2134-1499A>G chr19.hg19:g.38599368A>G NA Q2TV87 hg19 CCDS33007.1 0.02 -0.263127 CACxCCT COVERED NOVEL SIPA1L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000156294.2 7 2.407362 KEEP 1 0 0 8 253 AA 0.99257 0.688515 0 + 4 60 118 0 0 8.596596 26 60 798 56 ENST00000222345.6 0.133333 0.693668 SIPA1L3 23094 __UNKNOWN__ __UNKNOWN__ 19 38653883 38653883 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38653883G>A ENST00000222345.6 + 14 4289 NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 NA NA hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056) extracellular space (GO:0005615) GTPase activator activity (GO:0005096) NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) taatcccagtgctttaggagg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011117 CCDS33007.1 19q13.13 2008-02-05 ENSG00000105738 ENSG00000105738 23094 23801 protein-coding gene gene with protein product NA Standard XM_032278 XM_005258671 NA Approved KIAA0545 uc002ohk.3 O60292 OTTHUMG00000073727 ENST00000222345.6:c.3780+872G>A chr19.hg19:g.38653883G>A NA Q2TV87 hg19 CCDS33007.1 0.02 -0.175445 AGTxCTT COVERED NOVEL SIPA1L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000156294.2 3 2.407989 KEEP 0 0 0 8 297 GG 0.99257 0.384528 0 + 3 60 85 0 0 6.672366 12 60 414 44 ENST00000222345.6 0.2 0.387407 SPINT2 10653 __UNKNOWN__ __UNKNOWN__ 19 38779882 38779882 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38779882G>A ENST00000587090.1 + 4 433 SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000301244.7_Intron|CTB-102L5.4_ENST00000591889.1_Intron O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 NA NA cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) taatcccagcgctttgggagg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 38 38 38 NA NA NA 19 NA NA 38779882 2203 4299 6502 SO:0001627 intron_variant U78095 CCDS12510.1, CCDS54261.1 19q13.2 2010-05-12 2005-08-17 ENSG00000167642 ENSG00000167642 10653 11247 protein-coding gene gene with protein product placental bikunin 605124 serine protease inhibitor, Kunitz type, 2 NA 9115294, 9346890 Standard NM_021102 NA Approved Kop, HAI-2 uc002ohr.2 O43291 ENST00000587090.1:c.241+51G>A chr19.hg19:g.38779882G>A NA A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0 hg19 0.02 0.932133 AGCxCTT COVERED NOVEL SPINT2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000458152.1 7 8.159719 KEEP 1 1 25 36 1254 GG 1 0.999726 0 + 6 60 154 0 0 9.069968 73 60 2413 151 ENST00000587090.1 0.075949 0.999726 CTB-102L5.4 0 __UNKNOWN__ __UNKNOWN__ 19 38790609 38790609 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38790609A>G ENST00000591889.1 + 4 225 NA NA NA tgggattacaagtgtgagcca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000591889.1:c.226-4406A>G chr19.hg19:g.38790609A>G NA hg19 0.02 -0.149093 ACAxGTG UNCOVERED NOVEL CTB-102L5.4-002 PUTATIVE mRNA_start_NF|cds_start_NF|basic|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000458167.1 8 2.407242 KEEP 2 0 0 8 256 AA 0 0 0 + 3 60 104 0 0 8.478944 13 60 381 33 ENST00000591889.1 0.1875 0.292001 YIF1B 90522 __UNKNOWN__ __UNKNOWN__ 19 38797565 38797565 __UNKNOWN__ Intron SNP A A C rs534842925 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38797565A>C ENST00000339413.6 - 7 835 YIF1B_ENST00000591755.1_Silent_p.G282G|YIF1B_ENST00000337679.8_Silent_p.G282G|YIF1B_ENST00000591784.1_Intron|YIF1B_ENST00000329420.8_Intron|YIF1B_ENST00000392124.3_Intron|YIF1B_ENST00000592246.1_Intron|YIF1B_ENST00000592694.1_Intron NM_001039672.2|NM_001039673.2 NP_001034761.1|NP_001034762.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) NA NA integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) tcgtgatccgaccgcctcggc 0.507 NA A||| 2 0.000399361 8e-04 0 5008 , , NA 16453 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 36 36 36 NA NA NA 19 NA NA 38797565 692 1590 2282 SO:0001627 intron_variant AL833382 CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1 19q13.2 2008-02-05 90522 30511 protein-coding gene gene with protein product NA 12975309 Standard NM_033557 NM_001039672 NA Approved FinGER8 uc002ohz.2 Q5BJH7 ENST00000339413.6:c.789+502T>G chr19.hg19:g.38797565A>C NA H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4 hg19 CCDS33010.1 0.02 4.055672 CCGxCCG COVERED NOVEL YIF1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460511.1 2 9.628894 KEEP 1 0 0 32 1006 AA 0.999997 0.999984 0 - 7 60 209 0 0 13.389433 89 60 2672 164 ENST00000339413.6 0.072917 0.999987 YIF1B 90522 __UNKNOWN__ __UNKNOWN__ 19 38797598 38797598 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38797598A>G ENST00000339413.6 - 7 835 YIF1B_ENST00000591755.1_Silent_p.A271A|YIF1B_ENST00000337679.8_Silent_p.A271A|YIF1B_ENST00000591784.1_Intron|YIF1B_ENST00000329420.8_Intron|YIF1B_ENST00000392124.3_Intron|YIF1B_ENST00000592246.1_Intron|YIF1B_ENST00000592694.1_Intron NM_001039672.2|NM_001039673.2 NP_001034761.1|NP_001034762.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) NA NA integral component of membrane (GO:0016021) p.A271A(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) tgggattacaagcatgagcca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) kidney(1) 45 47 47 NA NA NA 19 NA NA 38797598 692 1591 2283 SO:0001627 intron_variant AL833382 CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1 19q13.2 2008-02-05 90522 30511 protein-coding gene gene with protein product NA 12975309 Standard NM_033557 NM_001039672 NA Approved FinGER8 uc002ohz.2 Q5BJH7 ENST00000339413.6:c.789+469T>C chr19.hg19:g.38797598A>G NA H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4 hg19 CCDS33010.1 0.02 6.20819 ACAxGCA COVERED NOVEL YIF1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460511.1 11 3.417498 KEEP 0 3 111 50 1622 AA 1 1 0 - 6 60 209 1 0 12.865085 142 60 4324 305 ENST00000339413.6 0.040541 1 FAM98C 147965 __UNKNOWN__ __UNKNOWN__ 19 38895461 38895461 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38895461A>G ENST00000343358.7 + 4 349 FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000252530.5_Intron|FAM98C_ENST00000585954.1_Intron Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C NA NA endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) gagccaccgcacccggccATC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42562.1 19q13.2 2008-02-05 ENSG00000130244 147965 27119 protein-coding gene gene with protein product NA 12477932 Standard NM_174905 NM_174905 NA Approved FLJ44669 uc002oin.1 Q17RN3 ENST00000343358.7:c.350-87A>G chr19.hg19:g.38895461A>G NA A6NMW3|Q66K45 hg19 0.02 1.58185 CGCxCCC COVERED NOVEL FAM98C-004 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000459223.1 8 12.325436 KEEP 1 0 0 41 1220 AA 1 0.999894 0 + 4 60 144 0 0 9.370779 78 60 2270 175 ENST00000343358.7 0.04878 0.999895 RYR1 6261 __UNKNOWN__ __UNKNOWN__ 19 38993454 38993454 __UNKNOWN__ Intron SNP A A G rs1469697|rs57147140|rs144244037 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38993454A>G ENST00000359596.3 + 49 7835 RYR1_ENST00000355481.4_Intron|RYR1_ENST00000360985.3_Intron P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) NA NA calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) cagggggaggagcaggggcag 0.706 NA a||| 881 0.175919 0.1793 0.1484 5008 , , NA 3019 0.1825 NA 0.1054 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J05200 CCDS33011.1, CCDS42563.1 19q13.1 2014-09-17 ENSG00000196218 6261 Ion channels / Ryanodine receptors 10483 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 137 180901 central core disease of muscle MHS, MHS1, CCO NA 1862346, 16621918 Standard NM_000540 NA Approved RYR, PPP1R137 uc002oit.3 P21817 ENST00000359596.3:c.7836-66A>G chr19.hg19:g.38993454A>G NA Q16314|Q16368|Q9NPK1|Q9P1U4 hg19 CCDS33011.1 0.02 -0.297697 AGGxGCA COVERED NOVEL RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000462137.1 0 2.707216 KEEP 0 0 0 9 264 AA 0.99254 0.775233 0 + 7 60 220 0 0 17.936754 26 60 710 44 ENST00000359596.3 0.212121 0.78106 RYR1 6261 __UNKNOWN__ __UNKNOWN__ 19 38993456 38993456 __UNKNOWN__ Intron SNP C C G rs374938724 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:38993456C>G ENST00000359596.3 + 49 7835 RYR1_ENST00000355481.4_Intron|RYR1_ENST00000360985.3_Intron P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) NA NA calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) gggggaggagcaggggcaggg 0.716 NA G||| 752 0.15016 0.1309 0.1138 5008 , , NA 3286 0.1796 NA 0.0845 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J05200 CCDS33011.1, CCDS42563.1 19q13.1 2014-09-17 ENSG00000196218 6261 Ion channels / Ryanodine receptors 10483 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 137 180901 central core disease of muscle MHS, MHS1, CCO NA 1862346, 16621918 Standard NM_000540 NA Approved RYR, PPP1R137 uc002oit.3 P21817 ENST00000359596.3:c.7836-64C>G chr19.hg19:g.38993456C>G NA Q16314|Q16368|Q9NPK1|Q9P1U4 hg19 CCDS33011.1 0.02 -0.324461 GAGxAGG COVERED NOVEL RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000462137.1 0 3.605196 KEEP 0 0 0 12 373 CC 0.993634 0.830395 0 + 9 60 291 0 0 24.603185 27 60 860 50 ENST00000359596.3 0.25 0.835716 CAPN12 147968 __UNKNOWN__ __UNKNOWN__ 19 39232923 39232923 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:39232923T>C ENST00000328867.4 - 3 735 CAPN12_ENST00000601953.1_Intron NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 NA NA proteolysis (GO:0006508) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) gagccgagattgtgccactgc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014027 CCDS12519.1 19q13.2 2014-08-12 ENSG00000182472 ENSG00000182472 147968 EF-hand domain containing 13249 protein-coding gene gene with protein product 608839 NA Standard NM_144691 NA Approved uc002ojd.1 Q6ZSI9 OTTHUMG00000182525 ENST00000328867.4:c.426+126A>G chr19.hg19:g.39232923T>C NA hg19 CCDS12519.1 0.02 -0.324441 GATxGTG COVERED NOVEL CAPN12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462151.1 6 4.209095 KEEP 0 0 0 14 382 TT 0.995343 0.831824 0 - 4 60 129 0 0 9.518042 29 60 795 58 ENST00000328867.4 0.121212 0.835716 CAPN12 147968 __UNKNOWN__ __UNKNOWN__ 19 39232946 39232946 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:39232946A>G ENST00000328867.4 - 3 735 CAPN12_ENST00000601953.1_Intron NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 NA NA proteolysis (GO:0006508) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) tccagcctggatgacagagtg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014027 CCDS12519.1 19q13.2 2014-08-12 ENSG00000182472 ENSG00000182472 147968 EF-hand domain containing 13249 protein-coding gene gene with protein product 608839 NA Standard NM_144691 NA Approved uc002ojd.1 Q6ZSI9 OTTHUMG00000182525 ENST00000328867.4:c.426+103T>C chr19.hg19:g.39232946A>G NA hg19 CCDS12519.1 0.02 1.84179 TGGxTGA COVERED NOVEL CAPN12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462151.1 6 5.415716 KEEP 0 0 0 18 567 AA 0.999859 0.967289 0 - 4 60 132 2 0 9.375098 38 60 1108 77 ENST00000328867.4 0.095238 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 40325090 40325090 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:40325090A>T NA NA DYRK1B (249 upstream) : FBL (7 downstream) NA NA NA TGAGCAGCAGACATGGGAGAC 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 96 98 97 NA NA NA 19 NA NA 40325090 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.40325090A>T NA hg19 0.02 -0.078918 CAGxCAT UNCOVERED NOVEL 0 1 3.009384 KEEP 0 0 0 10 324 AA 0.992708 0.076772 0 5 60 138 0 0 13.498615 4 60 114 19 0.555556 0.077336 FCGBP 8857 __UNKNOWN__ __UNKNOWN__ 19 40366460 40366460 __UNKNOWN__ Missense_Mutation SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:40366460C>T ENST00000221347.6 - 30 13781 c.13774G>A c.(13774-13776)Gat>Aat p.D4592N NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4592 VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}. NA extracellular vesicular exosome (GO:0070062) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGTCCCCATCGAAAGCCAGC 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 31 36 34 NA NA NA 19 NA NA 40366460 2200 4296 6496 SO:0001583 missense D84239 19q13.2 2013-09-20 ENSG00000090920 ENSG00000275395 8857 13572 protein-coding gene gene with protein product IgG Fc binding protein, Human Fc gamma BP NA 9182547 Standard NM_003890 NM_003890 NA Approved FC(GAMMA)BP uc002omp.4 Q9Y6R7 OTTHUMG00000182580 ENST00000221347.6:c.13774G>A chr19.hg19:g.40366460C>T ENSP00000221347:p.Asp4592Asn NA O95784 hg19 CCDS12546.1 0.02 1.272441 CATxGAA COVERED . . . . . . . . . . C 11.85 1.761288 0.31137 . . ENSG00000090920 ENST00000221347 T 0.60171 0.21 4.12 4.12 0.48240 von Willebrand factor, type D domain (3); 0.000000 0.85682 U 0.000000 T 0.60248 0.2254 L 0.52573 1.65 0.32280 N 0.567724 D 0.57571 0.98 P 0.51415 0.669 T 0.65742 -0.6094 10 0.26408 T 0.33 . 15.6318 0.76917 0.0:1.0:0.0:0.0 . 4592 Q9Y6R7 FCGBP_HUMAN N 4592 ENSP00000221347:D4592N ENSP00000221347:D4592N D - 1 0 FCGBP 45058300 0.210000 0.23517 0.730000 0.30809 0.092000 0.18411 0.694000 0.25512 2.289000 0.77006 0.305000 0.20034 GAT NOVEL FCGBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462507.1 0 4.514175 KEEP 2 0 0 15 503 CC 0.99649 0.995899 0 - 5 60 139 0 0 8.132546 77 60 2407 123 ENST00000221347.6 0.060976 0.999407 ZNF780B 163131 __UNKNOWN__ __UNKNOWN__ 19 40538392 40538392 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:40538392A>G ENST00000434248.1 - 0 4439 NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ttgggaggccaaggcgggtgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK127063 CCDS46077.1 19q13.2 2013-01-08 2006-08-15 2006-08-15 ENSG00000128000 ENSG00000128000 163131 Zinc fingers, C2H2-type, - 33109 protein-coding gene gene with protein product zinc finger protein 779 ZNF779 NA Standard NM_001005851 NM_001005851 NA Approved uc002omu.3 Q9Y6R6 OTTHUMG00000155118 ENST00000434248.1:c.*1872T>C chr19.hg19:g.40538392A>G NA B9EH00 hg19 CCDS46077.1 0.02 5.359028 GCCxAGG COVERED NOVEL ZNF780B-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338466.1 25 14.168628 KEEP 1 4 125 91 2675 AA 1 1 0 - 11 60 355 1 0 23.301833 151 60 4195 358 ENST00000434248.1 0.067901 1 ZNF780B 163131 __UNKNOWN__ __UNKNOWN__ 19 40554878 40554878 __UNKNOWN__ 5'UTR SNP A A C rs10403380 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:40554878A>C ENST00000221355.6 - 0 244 ZNF780B_ENST00000434248.1_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780B_ENST00000598845.1_Intron Q9Y6R6 Z780B_HUMAN zinc finger protein 780B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) tgcctgttataccagcacttt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 57 49 52 NA NA NA 19 NA NA 40554878 692 1591 2283 SO:0001623 5_prime_UTR_variant AK127063 CCDS46077.1 19q13.2 2013-01-08 2006-08-15 2006-08-15 ENSG00000128000 ENSG00000128000 163131 Zinc fingers, C2H2-type, - 33109 protein-coding gene gene with protein product zinc finger protein 779 ZNF779 NA Standard NM_001005851 NM_001005851 NA Approved uc002omu.3 Q9Y6R6 OTTHUMG00000155118 ENST00000221355.6:c.-458T>G chr19.hg19:g.40554878A>C NA B9EH00 hg19 0.02 -0.341953 TATxCCA COVERED NOVEL ZNF780B-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000338465.1 3 5.415109 KEEP 0 0 0 18 529 AA 0.999859 0.877584 0 - 3 60 97 0 0 6.81023 29 60 787 66 ENST00000221355.6 0.09375 0.877708 AC005614.5 0 __UNKNOWN__ __UNKNOWN__ 19 40573618 40573618 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:40573618A>G ENST00000595508.1 - 0 367 NA NA NA ggaggccgagacaggcggatc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000595508.1: chr19.hg19:g.40573618A>G NA hg19 0.02 -0.219225 GAGxCAG COVERED NOVEL AC005614.5-001 KNOWN NMD_likely_if_extended|basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000462936.2 3 2.707739 KEEP 0 0 0 9 275 AA 0.99254 0.548763 0 - 3 60 102 0 0 7.76501 20 60 575 40 ENST00000595508.1 0.130435 0.552887 AKT2 208 __UNKNOWN__ __UNKNOWN__ 19 40744684 40744684 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:40744684G>C ENST00000392038.2 - 8 1007 AKT2_ENST00000424901.1_Intron|AKT2_ENST00000579047.1_Intron|AKT2_ENST00000311278.6_Intron NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 NA NA activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165) cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674) breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) cctgcctcaagggAGAGGGGC 0.582 NA A ovarian, pancreatic NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 19 19q13.1-q13.2 208 v-akt murine thymoma viral oncogene homolog 2 E 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M77198 CCDS12552.1 19q13.1-q13.2 2013-01-10 ENSG00000105221 ENSG00000105221 208 2.7.11.1 Pleckstrin homology (PH) domain containing 392 protein-coding gene gene with protein product 164731 NA 1409633 Standard NM_001626 NM_001626 NA Approved uc002onf.3 P31751 OTTHUMG00000137375 ENST00000392038.2:c.708+127C>G chr19.hg19:g.40744684G>C NA B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0 hg19 CCDS12552.1 0.02 1.722319 CAAxGGA COVERED NOVEL AKT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268029.1 1 11.435961 KEEP 0 0 0 38 1306 GG 1 0.998695 0 - 26 60 840 0 0 75.192775 50 60 1663 141 ENST00000392038.2 0.342105 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 40792047 40792047 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:40792047G>T NA NA AKT2 (745 upstream) : RNU6-945P (13337 downstream) NA NA NA cctagcacttggggaggccaa 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.40792047G>T NA hg19 0.02 -0.175448 CTTxGGG COVERED NOVEL 0 5 2.407881 KEEP 0 0 0 8 289 GG 0.99257 0.384528 0 3 60 90 0 0 6.910277 15 60 524 41 0.166667 0.387407 SNRPA 6626 __UNKNOWN__ __UNKNOWN__ 19 41259581 41259581 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:41259581T>C ENST00000243563.3 + 1 623 SNRPA_ENST00000599570.1_Intron NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ggattacaggtgtgagccacc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X06347 CCDS12565.1 19q13.1 2013-02-12 ENSG00000077312 6626 RNA binding motif (RRM) containing 11151 protein-coding gene gene with protein product 182285 NA 1701111 Standard NM_004596 NM_004596 NA Approved U1A, U1-A, Mud1 uc002ooz.3 P09012 ENST00000243563.3:c.73+2195T>C chr19.hg19:g.41259581T>C NA hg19 CCDS12565.1 0.02 -0.219265 AGGxGTG COVERED NOVEL SNRPA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463118.2 7 2.707261 KEEP 0 0 0 9 266 TT 0.99254 0.548763 0 + 3 60 106 0 0 8.16459 20 60 590 49 ENST00000243563.3 0.130435 0.552887 SNRPA 6626 __UNKNOWN__ __UNKNOWN__ 19 41265219 41265219 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:41265219G>T ENST00000243563.3 + 3 796 SNRPA_ENST00000599570.1_Intron NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) cctcccaaagggctgggatta 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X06347 CCDS12565.1 19q13.1 2013-02-12 ENSG00000077312 6626 RNA binding motif (RRM) containing 11151 protein-coding gene gene with protein product 182285 NA 1701111 Standard NM_004596 NM_004596 NA Approved U1A, U1-A, Mud1 uc002ooz.3 P09012 ENST00000243563.3:c.247-117G>T chr19.hg19:g.41265219G>T NA hg19 CCDS12565.1 0.02 -0.368284 AAGxGCT COVERED NOVEL SNRPA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463118.2 5 7.219149 KEEP 0 0 0 24 787 GG 0.999931 0.909006 0 + 5 60 129 0 0 8.762376 35 60 1132 83 ENST00000243563.3 0.125 0.909069 CTC-490E21.12 0 __UNKNOWN__ __UNKNOWN__ 19 41397860 41397860 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:41397860G>A ENST00000601627.1 + 2 119 CYP2G1P_ENST00000252909.4_RNA NA NA NA TGGTACTCCAGTCAGCCCCTC 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000601627.1:c.120-36G>A chr19.hg19:g.41397860G>A NA hg19 0.02 -0.254398 CCAxTCA COVERED NOVEL CTC-490E21.12-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000463921.1 2 3.343795 KEEP 0 1 31 22 775 GG 0.999892 0.668451 0 + 5 39 146 0 0 11.197908 24 60 831 63 ENST00000601627.1 0.172414 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 41564159 41564159 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:41564159C>T NA NA CYP2B6 (39856 upstream) : CYP2A13 (30217 downstream) NA NA NA tgcagtgagccgagatcgtgc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.41564159C>T NA hg19 0.02 1.337783 AGCxGAG COVERED NOVEL 0 5 3.912329 KEEP 2 0 0 13 442 CC 0.994391 0.961999 0 5 60 128 0 0 8.333132 41 60 1307 78 0.108696 0.967425 AXL 558 __UNKNOWN__ __UNKNOWN__ 19 41735316 41735316 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:41735316T>C ENST00000301178.4 + 5 776 AXL_ENST00000593513.1_Intron|AXL_ENST00000359092.3_Intron NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase NA NA apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 actacaggtgtgcaccaccac 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M76125 CCDS12574.1, CCDS12575.1, CCDS62677.1 19q13.1 2013-02-11 ENSG00000167601 558 2.7.10.1 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 905 protein-coding gene gene with protein product 109135 NA 1656220 Standard NM_021913 NA Approved UFO, JTK11 uc010ehj.3 P30530 ENST00000301178.4:c.587-1556T>C chr19.hg19:g.41735316T>C NA Q8N5L2|Q9UD27 hg19 CCDS12575.1 0.02 -0.227988 GTGxGCA COVERED NOVEL AXL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000463323.2 8 2.406799 KEEP 1 0 0 8 237 TT 0.99257 0.578599 0 + 3 60 97 1 0 7.206209 21 60 591 46 ENST00000301178.4 0.125 0.58293 CCDC97 90324 __UNKNOWN__ __UNKNOWN__ 19 41822816 41822816 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:41822816G>A ENST00000269967.3 + 2 624 NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 NA NA biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 GGGAATTAGAGAAAAGAATAC 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC011577 CCDS12578.1 19q13.2 2008-02-05 90324 28289 protein-coding gene gene with protein product NA 12477932 Standard NM_052848 NM_052848 NA Approved FLJ40267, MGC20255 uc002oqg.3 Q96F63 ENST00000269967.3:c.502+72G>A chr19.hg19:g.41822816G>A NA Q658N6|Q96IF3 hg19 CCDS12578.1 0.02 -0.201675 AGAxAAA COVERED NOVEL CCDC97-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463293.1 2 4.213317 KEEP 0 0 0 14 468 GG 0.995343 0.48826 0 + 4 60 95 2 0 6.798957 19 60 576 39 ENST00000269967.3 0.173913 0.490544 POU2F2 5452 __UNKNOWN__ __UNKNOWN__ 19 42592669 42592669 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:42592669C>T ENST00000389341.5 - 0 4493 NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 NA NA cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) Dolutegravir(DB08930) tttttttttcctttttGGTCT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1 19q13.2 2011-06-20 2007-07-13 5452 Homeoboxes / POU class 9213 protein-coding gene gene with protein product 164176 POU domain class 2, transcription factor 2 OTF2 NA Standard NM_001207026 NA Approved OCT2 uc002osp.3 P09086 ENST00000389341.5:c.*3035G>A chr19.hg19:g.42592669C>T NA Q16648|Q7M4M8|Q9BRS4 hg19 CCDS33035.1 0.02 -0.252136 TTCxTTT COVERED NOVEL POU2F2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000387327.3 3 4.577522 KEEP 0 1 12 20 581 CC 0.999869 0.668436 0 - 5 60 107 1 0 7.420382 23 60 669 81 ENST00000389341.5 0.178571 0.668523 CIC 23152 __UNKNOWN__ __UNKNOWN__ 19 42779885 42779885 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:42779885C>T ENST00000572681.2 + 2 2862 Q96RK0 CIC_HUMAN capicua transcriptional repressor NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) aggctggtctcgaattcctgg 0.398 NA Mis, F, S oligodendroglioma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Rec yes 19 19q13.2 23152 capicua homolog O 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002304 CCDS12601.1 19q13.2 2013-03-15 2013-03-15 ENSG00000079432 ENSG00000079432 23152 14214 protein-coding gene gene with protein product 612082 capicua (Drosophila) homolog, capicua homolog (Drosophila) NA 12393275, 15981098 Standard NM_015125 NA Approved KIAA0306 uc002otf.1 Q96RK0 ENST00000572681.2:c.2794+1156C>T chr19.hg19:g.42779885C>T NA Q7LGI1|Q9UEG5|Q9Y6T1 hg19 0.02 -0.219301 TCTxGAA COVERED NOVEL CIC-002 NOVEL NAGNAG_splice_site|not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000438528.3 5 3.611571 KEEP 0 0 0 12 405 CC 0.993634 0.549368 0 + 3 60 88 1 0 6.365838 20 60 657 56 ENST00000572681.2 0.130435 0.552887 TMEM145 284339 __UNKNOWN__ __UNKNOWN__ 19 42819108 42819108 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:42819108G>T ENST00000301204.3 + 6 461 TMEM145_ENST00000598766.1_Intron|TMEM145_ENST00000601020.1_Intron NM_173633.2 NP_775904.2 Q8NBT3 TM145_HUMAN transmembrane protein 145 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236) integral component of membrane (GO:0016021) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CCCCCAACTTGCCCAGGGCCC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 43 40 41 NA NA NA 19 NA NA 42819108 2203 4300 6503 SO:0001627 intron_variant AK075286 CCDS12603.1 19q13.2 2008-02-05 ENSG00000167619 284339 26912 protein-coding gene gene with protein product NA Standard NM_173633 NM_173633 NA Approved FLJ90805 uc002otk.1 Q8NBT3 ENST00000301204.3:c.421-37G>T chr19.hg19:g.42819108G>T NA hg19 CCDS12603.1 0.02 2.821629 CTTxCCC COVERED NOVEL TMEM145-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463737.1 1 21.961685 KEEP 0 0 0 73 2521 GG 1 0.999993 0 + 39 60 1047 0 0 92.473963 70 60 2299 235 ENST00000301204.3 0.357798 0.999993 MEGF8 1954 __UNKNOWN__ __UNKNOWN__ 19 42881683 42881683 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:42881683A>G ENST00000334370.4 + 0 9728 MEGF8_ENST00000378073.4_3'UTR|MEGF8_ENST00000251268.6_3'UTR NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 NA NA BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|receptor activity (GO:0004872) breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) gctcatgcctataatcctagc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011541 CCDS12604.2, CCDS62693.1 19q13.2 2011-11-24 2006-03-31 2006-03-31 ENSG00000105429 ENSG00000105429 1954 3233 protein-coding gene gene with protein product HBV pre s2 binding protein 1 604267 EGF-like-domain, multiple 4, chromosome 19 open reading frame 49 EGFL4, C19orf49 NA 9693030 Standard NM_001410 NM_001410 NA Approved SBP1, FLJ22365 uc002otm.5 Q7Z7M0 OTTHUMG00000150342 ENST00000334370.4:c.*756A>G chr19.hg19:g.42881683A>G NA A8KAY0|O75097 hg19 CCDS12604.2 0.02 -0.420866 CCTxTAA COVERED NOVEL MEGF8-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000317695.1 8 2.405165 KEEP 0 0 0 8 222 AA 0.99257 0.941356 0 + 3 60 102 0 0 6.908756 40 60 1096 74 ENST00000334370.4 0.069767 0.948402 MEGF8 1954 __UNKNOWN__ __UNKNOWN__ 19 42881910 42881910 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:42881910A>G ENST00000334370.4 + 0 9955 MEGF8_ENST00000378073.4_3'UTR|MEGF8_ENST00000251268.6_3'UTR NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 NA NA BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|receptor activity (GO:0004872) breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ctgcactccaacctgggtgac 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011541 CCDS12604.2, CCDS62693.1 19q13.2 2011-11-24 2006-03-31 2006-03-31 ENSG00000105429 ENSG00000105429 1954 3233 protein-coding gene gene with protein product HBV pre s2 binding protein 1 604267 EGF-like-domain, multiple 4, chromosome 19 open reading frame 49 EGFL4, C19orf49 NA 9693030 Standard NM_001410 NM_001410 NA Approved SBP1, FLJ22365 uc002otm.5 Q7Z7M0 OTTHUMG00000150342 ENST00000334370.4:c.*983A>G chr19.hg19:g.42881910A>G NA A8KAY0|O75097 hg19 CCDS12604.2 0.02 -0.368291 CCAxCCT COVERED NOVEL MEGF8-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000317695.1 4 2.708406 KEEP 1 0 0 9 291 AA 0.99254 0.892605 0 + 6 60 212 2 0 17.270025 27 60 762 56 ENST00000334370.4 0.181818 0.899314 LIPE 3991 __UNKNOWN__ __UNKNOWN__ 19 42909850 42909850 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:42909850A>G ENST00000244289.4 - 8 2642 LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive NA NA cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433) cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886) hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806) breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) ggctgggcgcagtggctcacg 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L11706 CCDS12607.1 19q13.1-q13.2 2014-03-14 ENSG00000079435 ENSG00000079435 3991 3.1.1.3 6621 protein-coding gene gene with protein product 151750 NA 8506334 Standard NM_005357 NM_005357 NA Approved HSL uc002otr.3 Q05469 OTTHUMG00000182814 ENST00000244289.4:c.2366-137T>C chr19.hg19:g.42909850A>G NA Q3LRT2|Q6NSL7 hg19 CCDS12607.1 0.02 -0.245538 CGCxGTG COVERED NOVEL LIPE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463861.1 4 2.407173 KEEP 0 0 0 8 246 AA 0.99257 0.636582 0 - 3 60 95 0 0 6.895606 23 60 655 42 ENST00000244289.4 0.115385 0.641347 CEACAM1 634 __UNKNOWN__ __UNKNOWN__ 19 43020933 43020933 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:43020933T>C ENST00000161559.6 - 5 1381 CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403444.3_Intron|CEACAM1_ENST00000599389.1_Missense_Mutation_p.K348R|CEACAM1_ENST00000308072.4_Missense_Mutation_p.K308R|CEACAM1_ENST00000358394.3_Intron|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Intron NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) NA NA angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) acctgtaatcttagcactttg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M72238 CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1 19q13.2 2014-05-16 ENSG00000079385 ENSG00000079385 634 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1814 protein-coding gene gene with protein product 109770 BGP NA 2457922, 2025273 Standard NM_001712 NM_001712 NA Approved BGP1, CD66a uc002otv.3 P13688 OTTHUMG00000151078 ENST00000161559.6:c.1246+2166A>G chr19.hg19:g.43020933T>C NA A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9 hg19 CCDS12609.1 0.02 1.745411 ATCxTAG COVERED . . . . . . . . . . t 0.096 -1.158817 0.01686 . . ENSG00000079385 ENST00000378065;ENST00000308072 T 0.01359 4.98 0.189 0.189 0.15119 . . . . . T 0.01353 0.0044 . . . 0.09310 N 1 . . . . . . T 0.50575 -0.8812 5 0.27082 T 0.32 . . . . . . . . R 402;308 ENSP00000312184:K308R ENSP00000312184:K308R K - 2 0 CEACAM1 47712773 0.002000 0.14202 0.014000 0.15608 0.014000 0.08584 -0.380000 0.07427 0.250000 0.21479 0.248000 0.18094 AAG NOVEL CEACAM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000321190.2 6 5.414485 KEEP 1 0 0 18 531 TT 0.999859 0.990825 0 - 6 60 186 0 0 13.187552 50 60 1434 92 ENST00000161559.6 0.107143 0.990964 CEACAM1 634 __UNKNOWN__ __UNKNOWN__ 19 43022883 43022883 __UNKNOWN__ Intron SNP C C A rs565887836 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:43022883C>A ENST00000161559.6 - 5 1381 CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403444.3_Intron|CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000358394.3_Intron|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Intron NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) NA NA angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) cgatctcctgccctcgtgatc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M72238 CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1 19q13.2 2014-05-16 ENSG00000079385 ENSG00000079385 634 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1814 protein-coding gene gene with protein product 109770 BGP NA 2457922, 2025273 Standard NM_001712 NM_001712 NA Approved BGP1, CD66a uc002otv.3 P13688 OTTHUMG00000151078 ENST00000161559.6:c.1246+216G>T chr19.hg19:g.43022883C>A NA A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9 hg19 CCDS12609.1 0.02 1.470245 CTGxCCT COVERED NOVEL CEACAM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000321190.2 0 18.322841 KEEP 0 0 0 61 2071 CC 1 0.999407 0 - 6 60 181 0 0 11.820338 71 60 2364 166 ENST00000161559.6 0.077922 0.999407 PSG7 5676 __UNKNOWN__ __UNKNOWN__ 19 43441225 43441225 __UNKNOWN__ RNA SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:43441225C>G ENST00000406070.2 - 0 100 PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) NA NA female pregnancy (GO:0007565) extracellular region (GO:0005576) NA Prostate(69;0.00682) GAGAGGGGCCCCATGGTCTCT 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 93 88 90 NA NA NA 19 NA NA 43441225 2201 4298 6499 19q13.2 2013-01-29 2010-02-26 ENSG00000221878 ENSG00000221878 5676 Immunoglobulin superfamily / Immunoglobulin-like domain containing 9524 protein-coding gene gene with protein product 176396 pregnancy specific beta-1-glycoprotein 7 NA Standard NM_001206650 NM_002783 NA Approved uc010xwl.2 Q13046 OTTHUMG00000151125 ENST00000406070.2: chr19.hg19:g.43441225C>G NA Q15232 hg19 0.02 1.672458 GCCxCAT COVERED NOVEL PSG7-001 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000321431.2 2 15.649624 KEEP 1 0 0 52 1781 CC 1 0.999895 0 - 32 60 1029 0 0 92.352303 60 60 1966 195 ENST00000406070.2 0.347826 0.999895 PSG4 5672 __UNKNOWN__ __UNKNOWN__ 19 43697441 43697441 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:43697441A>C ENST00000405312.3 - 0 1580 PSG4_ENST00000244295.9_3'UTR|PSG4_ENST00000433626.2_3'UTR NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 NA NA female pregnancy (GO:0007565) extracellular vesicular exosome (GO:0070062) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) gtccacctccagcttataggg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33039.1, CCDS46093.1, CCDS62695.1 19q13.2 2013-01-29 ENSG00000243137 ENSG00000243137 5672 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9521 protein-coding gene gene with protein product pregnancy-specific beta-1-glycoprotein 4 176393 NA 2783133 Standard NM_213633 NM_002780 NA Approved uc002ovy.4 Q00888 OTTHUMG00000151544 ENST00000405312.3:c.*83T>G chr19.hg19:g.43697441A>C NA E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76 hg19 CCDS46093.1 0.02 -0.342032 TCCxGCT COVERED NOVEL PSG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323073.1 0 3.244137 KEEP 1 1 38 24 710 AA 0.999931 0.865686 0 - 3 25 100 0 0 6.840668 36 60 1059 73 ENST00000405312.3 0.076923 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 43780805 43780805 __UNKNOWN__ IGR SNP C C A rs145905066 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:43780805C>A NA NA PSG9 (7123 upstream) : CTC-490G23.2 (52641 downstream) NA NA NA accatgtaggctctcttttaa 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.43780805C>A NA hg19 0.02 1.447204 AGGxTCT COVERED NOVEL 0 2 3.446704 KEEP 0 1 33 23 842 CC 0.999909 0.990874 0 7 39 211 0 0 14.952723 55 60 1907 132 0.112903 0.990964 CADM4 199731 __UNKNOWN__ __UNKNOWN__ 19 44130787 44130787 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:44130787C>T ENST00000222374.2 - 4 548 NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 NA NA cell adhesion (GO:0007155) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) agtgctaggactacaggcgtg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF363368 CCDS12627.1 19q13.32 2013-01-29 2007-02-07 2007-02-07 ENSG00000105767 199731 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 30825 protein-coding gene gene with protein product nectin-like 4 609744 immunoglobulin superfamily, member 4C IGSF4C NA 11536053 Standard NM_145296 NM_145296 NA Approved TSLL2, Necl-4, SynCAM4 uc002oxc.1 Q8NFZ8 ENST00000222374.2:c.499+148G>A chr19.hg19:g.44130787C>T NA B2R7L5|Q9Y4A4 hg19 CCDS12627.1 0.02 -0.228037 GGAxTAC COVERED NOVEL CADM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463352.1 0 5.417543 KEEP 0 0 0 18 621 CC 0.999859 0.582848 0 - 4 60 109 0 0 8.03812 21 60 657 49 ENST00000222374.2 0.16 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 45090458 45090458 __UNKNOWN__ IGR SNP T T C rs562956911 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:45090458T>C NA NA CEACAM22P (30308 upstream) : IGSF23 (26481 downstream) NA NA NA tggctcacgcttgtaatccca 0.478 NA T||| 151 0.0301518 0.0749 0.0202 5008 , , NA 16528 0 NA 0.0159 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.45090458T>C NA hg19 0.02 -0.210434 CGCxTGT COVERED NOVEL 0 8 2.407675 KEEP 0 0 0 8 272 TT 0.99257 0.518282 0 4 60 115 0 0 8.972524 17 60 496 43 0.190476 0.522161 PVRL2 5819 __UNKNOWN__ __UNKNOWN__ 19 45367873 45367873 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:45367873T>C ENST00000252483.5 + 2 88 PVRL2_ENST00000252485.4_Intron NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) NA NA acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370) cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915) cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618) breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) gtcaggagattgagaccatcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X80038 CCDS12645.1, CCDS42576.1 19q13.32 2013-01-29 ENSG00000130202 ENSG00000130202 5819 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9707 protein-coding gene gene with protein product 600798 HVEB NA 7622062, 10196354 Standard NM_002856 NM_001042724 NA Approved PVRR2, PRR2, CD112 uc002ozw.1 Q92692 OTTHUMG00000180839 ENST00000252483.5:c.89-655T>C chr19.hg19:g.45367873T>C NA A8K5L5|O75455|Q6IBI6|Q96J29 hg19 CCDS42576.1 0.02 -0.131554 GATxGAG COVERED NOVEL PVRL2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000453231.1 5 3.008873 KEEP 5 0 0 10 307 TT 0.992708 0.227502 0 + 4 48 123 0 0 10.431317 11 60 320 42 ENST00000252483.5 0.266667 0.229173 APOC4-APOC2 100533990 __UNKNOWN__ __UNKNOWN__ 19 45448605 45448605 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:45448605G>A ENST00000589057.1 + 2 240 APOC4_ENST00000419266.2_3'UTR|APOC4_ENST00000592954.1_3'UTR APOC4-APOC2 readthrough (NMD candidate) NA NA NA ggtgcctgtagtcccagctac 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 30 33 32 NA NA NA 19 NA NA 45448605 2198 4291 6489 SO:0001627 intron_variant 19q13.32 2013-09-30 2013-09-30 ENSG00000224916 ENSG00000224916 100533990 44426 other readthrough APOC4-APOC2 readthrough NA Standard NR_037932 NR_037932 NA Approved OTTHUMG00000180846 ENST00000589057.1:c.218+458G>A chr19.hg19:g.45448605G>A NA hg19 0.02 -0.394719 GTAxTCC COVERED NOVEL APOC4-APOC2-001 NOVEL basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000453258.1 2 11.132997 KEEP 0 0 0 37 1225 GG 1 0.92664 0 + 4 60 103 0 0 6.483767 38 60 1246 91 ENST00000589057.1 0.095238 0.92664 BLOC1S3 388552 __UNKNOWN__ __UNKNOWN__ 19 45682757 45682757 __UNKNOWN__ Missense_Mutation SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:45682757A>T ENST00000433642.2 + 2 299 c.203A>T c.(202-204)gAg>gTg p.E68V BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E68V NM_212550.3 NP_997715.1 Q6QNY0 BL1S3_HUMAN biogenesis of lysosomal organelles complex-1, subunit 3 68 NA anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299) BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133) ovary(1)|skin(1) 2 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) TCGGAGCCGGAGCCGGAGCCG 0.771 NA Hermansky-Pudlak syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 2 2 NA NA NA 19 NA NA 45682757 1174 2623 3797 SO:0001583 missense Familial Cancer Database HPS, HPS1-8 AY531266 CCDS12656.1 19q13.32 2012-08-01 2008-08-11 ENSG00000189114 388552 Biogenesis of lysosomal organelles complex-1 subunits 20914 protein-coding gene gene with protein product BLOC-1 subunit 3, Biogenesis of Lysosome-related Organelles complex-1 Subunit 3, Hermansky-Pudlak syndrome 8 609762 NA 15102850 Standard NM_212550 NM_212550 NA Approved BLOS3, HPS8 uc002pax.4 Q6QNY0 ENST00000433642.2:c.203A>T chr19.hg19:g.45682757A>T ENSP00000393840:p.Glu68Val NA B2RXB8 hg19 CCDS12656.1 0.02 1.46772 CGGxGCC COVERED . . . . . . . . . . A 14.26 2.481408 0.44147 . . ENSG00000189114 ENST00000433642 . . . 3.87 3.87 0.44632 . 0.245292 0.39687 N 0.001284 T 0.43964 0.1271 L 0.29908 0.895 0.41468 D 0.988084 P 0.35894 0.526 B 0.41571 0.36 T 0.49476 -0.8936 9 0.87932 D 0 -2.9403 9.3867 0.38347 1.0:0.0:0.0:0.0 . 68 Q6QNY0 BL1S3_HUMAN V 68 . ENSP00000393840:E68V E + 2 0 BLOC1S3 50374597 0.223000 0.23663 0.606000 0.28943 0.280000 0.26924 1.210000 0.32370 1.528000 0.49103 0.454000 0.30748 GAG NOVEL BLOC1S3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457559.1 0 6.315001 KEEP 0 0 0 21 588 AA 0.999869 0.997032 0 + 37 60 1027 0 0 98.994901 34 60 960 115 ENST00000433642.2 0.521127 0.997163 AC006126.3 0 __UNKNOWN__ __UNKNOWN__ 19 45716147 45716147 __UNKNOWN__ Intron SNP C C T rs555630174 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:45716147C>T ENST00000591569.1 + 4 282 EXOC3L2_ENST00000413988.1_3'UTR|EXOC3L2_ENST00000252482.3_3'UTR NA NA NA catgagccaccgtgcctggcg 0.562 NA C||| 1 0.000199681 0 0 5008 , , NA 16042 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000591569.1:c.68-3787C>T chr19.hg19:g.45716147C>T NA hg19 0.02 2.883417 CACxGTG COVERED NOVEL AC006126.3-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000457565.1 10 8.426684 KEEP 0 0 0 28 950 CC 0.999997 0.999993 0 + 6 60 178 0 0 10.566514 104 60 3359 190 ENST00000591569.1 0.054545 0.999996 ERCC1 2067 __UNKNOWN__ __UNKNOWN__ 19 45916759 45916759 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:45916759T>C ENST00000591636.1 - 5 729 ERCC1_ENST00000340192.7_Intron|ERCC1_ENST00000589165.1_Intron|ERCC1_ENST00000013807.5_3'UTR|ERCC1_ENST00000588738.1_Intron|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000300853.3_Intron P07992 ERCC1_HUMAN excision repair cross-complementation group 1 NA NA cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650) cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669) damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1) 15 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) gtctccaacttctggcctcaa 0.483 NA Nucleotide excision repair (NER) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 52 52 NA NA NA 19 NA NA 45916759 2203 4300 6503 SO:0001627 intron_variant CCDS12662.1, CCDS12663.1, CCDS54279.1 19q13.32 2014-03-07 2014-03-07 ENSG00000012061 2067 3433 protein-coding gene gene with protein product 126380 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) NA 6462228 Standard NM_001983 NM_001983 NA Approved RAD10 uc002pbs.2 P07992 ENST00000591636.1:c.602+3319A>G chr19.hg19:g.45916759T>C NA B2RC01|B3KRR0|Q7Z7F5|Q96S40 hg19 0.02 -0.227904 ACTxCTG COVERED NOVEL ERCC1-013 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000459547.1 2 3.609999 KEEP 0 0 0 12 348 TT 0.993634 0.579219 0 - 3 60 94 0 0 6.796738 23 60 609 41 ENST00000591636.1 0.115385 0.58293 OPA3 80207 __UNKNOWN__ __UNKNOWN__ 19 46081531 46081531 __UNKNOWN__ Intron SNP A A C rs575352098 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:46081531A>C ENST00000323060.3 - 1 220 OPA3_ENST00000263275.4_Intron|OPA3_ENST00000544371.1_Intron NM_001017989.2 NP_001017989.2 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) NA NA growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601) mitochondrion (GO:0005739) cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) cagctggaggatacaagattc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025840 CCDS12668.1, CCDS33052.1 19q13.2-q13.3 2014-01-28 ENSG00000125741 80207 8142 protein-coding gene gene with protein product 606580 NA 9097959, 11668429 Standard NM_001017989 NA Approved FLJ22187, MGA3 uc002pcj.4 Q9H6K4 ENST00000323060.3:c.142+6349T>G chr19.hg19:g.46081531A>C NA Q6P384|Q8N784 hg19 CCDS33052.1 0.02 -0.210481 AGGxTAC COVERED NOVEL OPA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459600.1 2 2.407534 KEEP 2 0 0 8 260 AA 0.99257 0.518282 0 - 3 40 103 0 0 7.805584 21 60 618 46 ENST00000323060.3 0.125 0.522161 IRF2BP1 26145 __UNKNOWN__ __UNKNOWN__ 19 46388180 46388180 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:46388180C>A ENST00000302165.3 - 1 1196 c.853G>T c.(853-855)Gtg>Ttg p.V285L NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 285 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) ligase activity (GO:0016874)|metal ion binding (GO:0046872) cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CCGGCGTACACATTGCCGGAA 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 54 53 NA NA NA 19 NA NA 46388180 2203 4300 6503 SO:0001583 missense AY278022 CCDS12678.1 19q13.32 2008-02-05 26145 21728 protein-coding gene gene with protein product 615331 NA 12799427 Standard NM_015649 NM_015649 NA Approved DKFZP434M154, IRF-2BP1 uc002pds.1 Q8IU81 ENST00000302165.3:c.853G>T chr19.hg19:g.46388180C>A ENSP00000307265:p.Val285Leu NA Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4 hg19 CCDS12678.1 0.02 9.574392 ACAxATT COVERED . . . . . . . . . . C 16.47 3.131778 0.56828 . . ENSG00000170604 ENST00000302165 T 0.17691 2.26 4.66 4.66 0.58398 . 0.210147 0.30791 N 0.008875 T 0.15739 0.0379 L 0.42245 1.32 0.33938 D 0.642941 P 0.38827 0.649 B 0.33042 0.157 T 0.27331 -1.0077 10 0.66056 D 0.02 . 15.0928 0.72207 0.0:1.0:0.0:0.0 . 285 Q8IU81 I2BP1_HUMAN L 285 ENSP00000307265:V285L ENSP00000307265:V285L V - 1 0 IRF2BP1 51080020 0.988000 0.35896 0.994000 0.49952 0.636000 0.38137 2.768000 0.47645 2.406000 0.81754 0.555000 0.69702 GTG NOVEL IRF2BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461683.1 3 47.552358 KEEP 0 0 0 158 5596 CC 1 1 0 - 137 60 3874 0 0 356.621177 188 60 6333 636 ENST00000302165.3 0.421538 1 DACT3 147906 __UNKNOWN__ __UNKNOWN__ 19 47153934 47153934 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:47153934T>C ENST00000391916.2 - 4 573 DACT3_ENST00000300875.4_Intron|DACT3_ENST00000410105.2_3'UTR NM_145056.2 NP_659493.2 Q96B18 DACT3_HUMAN dishevelled-binding antagonist of beta-catenin 3 NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737) delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080) lung(1) 1 Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325) ctcagcctcctaaagtgctgg 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12688.2, CCDS74402.1 19q13.32 2013-05-15 2013-05-15 2006-09-25 ENSG00000197380 ENSG00000197380 147906 30745 protein-coding gene gene with protein product 611112 arginine rich region 1, dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) RRR1 NA 16881060 Standard NM_145056 NM_145056 NA Approved MGC15476, DAPPER3 uc010ekq.3 Q96B18 OTTHUMG00000153070 ENST00000391916.2:c.500-805A>G chr19.hg19:g.47153934T>C NA hg19 CCDS12688.2 0.02 1.90068 TCCxAAA COVERED NOVEL DACT3-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000334090.1 10 9.902772 KEEP 1 1 34 45 1385 TT 1 0.995687 0 - 5 60 161 1 0 10.981595 56 60 1628 145 ENST00000391916.2 0.081967 0.995687 PRKD2 25865 __UNKNOWN__ __UNKNOWN__ 19 47212675 47212675 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:47212675T>C ENST00000291281.4 - 3 737 PRKD2_ENST00000595515.1_Intron|PRKD2_ENST00000433867.1_Intron|PRKD2_ENST00000600194.1_Intron|PRKD2_ENST00000601806.1_Intron Q9BZL6 KPCD2_HUMAN protein kinase D2 NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) ggctggagtgtaatggtgcaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151021 CCDS12689.1, CCDS59401.1 19q13.2 2013-01-10 ENSG00000105287 25865 Pleckstrin homology (PH) domain containing 17293 protein-coding gene gene with protein product 607074 NA 11042152, 11062248 Standard NM_016457 NM_001079880 NA Approved PKD2, HSPC187, DKFZP586E0820 uc002pfj.3 Q9BZL6 ENST00000291281.4:c.511+1488A>G chr19.hg19:g.47212675T>C NA Q8TB08|Q9P0T6|Q9Y3X8 hg19 CCDS12689.1 0.02 -0.350793 GTGxAAT COVERED NOVEL PRKD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466591.1 5 3.911005 KEEP 0 0 0 13 380 TT 0.994391 0.872784 0 - 4 60 133 0 1 9.757065 32 60 905 60 ENST00000291281.4 0.111111 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 48391169 48391169 __UNKNOWN__ IGR SNP C C T rs538439426 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:48391169C>T NA NA SULT2A1 (1515 upstream) : AC124853.1 (10820 downstream) NA NA NA tggtggctcacgcctgtaatc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.48391169C>T NA hg19 0.02 -0.18419 TCAxGCC COVERED NOVEL 0 8 5.416832 KEEP 3 0 0 18 594 CC 0.999366 0.423209 0 3 60 88 0 0 6.561518 17 60 537 51 0.15 0.423478 FUT2 2524 __UNKNOWN__ __UNKNOWN__ 19 49207756 49207756 __UNKNOWN__ 3'UTR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:49207756C>G ENST00000425340.2 + 0 1660 FUT2_ENST00000391876.4_Intron NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) NA NA carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) cacataagaccagaagtggcc 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33069.1 19q13.33 2014-07-19 ENSG00000176920 ENSG00000176920 2524 Fucosyltransferases 4013 protein-coding gene gene with protein product alpha (1,2) fucosyltransferase, galactoside 2-alpha-L-fucosyltransferase 2, GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2, alpha(1,2)FT2, secretor factor, secretor blood group alpha-2-fucosyltransferase 182100 SE NA 1763885 Standard NM_000511 NM_000511 NA Approved sej, Se2, SEC2 uc010emc.3 Q10981 OTTHUMG00000164427 ENST00000425340.2:c.*511C>G chr19.hg19:g.49207756C>G NA Q0VAG5|Q14338|Q5D0G2 hg19 CCDS33069.1 0.02 3.18046 GACxAGA COVERED NOVEL FUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378731.2 56 17.757272 KEEP 0 0 0 59 2080 CC 1 0.999996 0 + 5 60 163 0 0 9.900371 103 60 3451 230 ENST00000425340.2 0.046296 0.999996 FUT2 2524 __UNKNOWN__ __UNKNOWN__ 19 49208471 49208471 __UNKNOWN__ 3'UTR SNP G G A rs28362845 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:49208471G>A ENST00000425340.2 + 0 2375 FUT2_ENST00000391876.4_Intron NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) NA NA carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) aggttcaagcgattctcctgc 0.502 NA G||| 66 0.0131789 0.0469 0.0058 5008 , , NA 16874 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33069.1 19q13.33 2014-07-19 ENSG00000176920 ENSG00000176920 2524 Fucosyltransferases 4013 protein-coding gene gene with protein product alpha (1,2) fucosyltransferase, galactoside 2-alpha-L-fucosyltransferase 2, GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2, alpha(1,2)FT2, secretor factor, secretor blood group alpha-2-fucosyltransferase 182100 SE NA 1763885 Standard NM_000511 NM_000511 NA Approved sej, Se2, SEC2 uc010emc.3 Q10981 OTTHUMG00000164427 ENST00000425340.2:c.*1226G>A chr19.hg19:g.49208471G>A NA Q0VAG5|Q14338|Q5D0G2 hg19 CCDS33069.1 0.02 -0.315724 AGCxATT COVERED NOVEL FUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378731.2 8 15.639602 KEEP 2 0 0 52 1718 GG 1 0.835716 0 + 4 60 99 0 0 6.470964 30 60 928 95 ENST00000425340.2 0.117647 0.835716 GYS1 2997 __UNKNOWN__ __UNKNOWN__ 19 49484633 49484633 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:49484633A>G ENST00000263276.6 - 7 1175 GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Intron|GYS1_ENST00000323798.3_Intron|GYS1_ENST00000540532.1_Intron NM_001161587.1 NP_001155059.1 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020) glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901) breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) tcgcaccactacactccagcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12747.1, CCDS54292.1 19q13.3 2013-02-22 ENSG00000104812 ENSG00000104812 2997 2.4.1.11 Glycosyltransferase group 1 domain containing 4706 protein-coding gene gene with protein product 138570 GYS NA Standard NM_002103 NM_002103 NA Approved GSY uc002plp.3 P13807 OTTHUMG00000150723 ENST00000263276.6:c.977+153T>C chr19.hg19:g.49484633A>G NA Q9BTT9 hg19 CCDS54292.1 0.02 -0.219246 ACTxCAC COVERED NOVEL GYS1-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000319796.1 5 2.707466 KEEP 2 0 0 9 268 AA 0.99254 0.548763 0 - 4 60 136 0 0 11.163411 16 60 446 40 ENST00000263276.6 0.2 0.552887 PPFIA3 8541 __UNKNOWN__ __UNKNOWN__ 19 49639948 49639948 __UNKNOWN__ Intron SNP A A G rs2303052 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:49639948A>G ENST00000334186.4 + 15 2014 PPFIA3_ENST00000602351.1_Intron NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 NA NA cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GCCCCCAGCCACCTAATGTCC 0.577 NA A||| 985 0.196685 0.0666 0.1945 5008 , , NA 14889 0.0595 NA 0.3837 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 A 529,3837 49,431,1703 19 16 17 NA 1.4 0 19 dbSNP_100 17 3231,5301 631,1969,1666 no intron PPFIA3 NM_003660.2 680,2400,3369 GG,GA,AA NA 37.8692,12.1164,29.1518 49639948 3760,9138 2183 4266 6449 SO:0001627 intron_variant AF034800 CCDS12758.1 19q13.33 2013-09-23 ENSG00000177380 ENSG00000177380 8541 Sterile alpha motif (SAM) domain containing 9247 protein-coding gene gene with protein product protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3, liprin-alpha 3, liprin 603144 NA 9624153, 9734811 Standard NM_003660 NM_003660 NA Approved KIAA0654, LPNA3, MGC126567, MGC126569 uc002pmr.3 O75145 OTTHUMG00000183213 ENST00000334186.4:c.1666-33A>G chr19.hg19:g.49639948A>G NA A8K142|Q3MJA0|Q9H8B5|Q9UEW4 hg19 CCDS12758.1 0.02 -0.070135 GCCxCCT UNCOVERED NOVEL PPFIA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465688.1 0 2.707721 KEEP 0 0 0 9 270 AA 0.99254 0.053733 0 + 7 60 197 0 0 21.730149 1 60 23 17 ENST00000334186.4 0.875 0.054137 PIH1D1 55011 __UNKNOWN__ __UNKNOWN__ 19 49954304 49954304 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:49954304G>T ENST00000262265.5 - 2 326 PIH1D1_ENST00000596049.1_Intron NM_017916.2 NP_060386.1 Q9NWS0 PIHD1_HUMAN PIH1 domain containing 1 NA NA box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855) pre-snoRNP complex (GO:0070761) NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) ttttttttttggagacggagt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000650 CCDS12765.1 19q13.33 2012-07-18 2007-01-31 2007-01-31 ENSG00000104872 ENSG00000104872 55011 26075 protein-coding gene gene with protein product 611480 NOP17 NA 12477932 Standard NM_017916 NM_017916 NA Approved FLJ20643 uc002pns.2 Q9NWS0 ENST00000262265.5:c.91-199C>A chr19.hg19:g.49954304G>T NA B4DGN7|B4E2X7|Q9BVL0 hg19 CCDS12765.1 0.02 -0.192961 TTTxGAG COVERED NOVEL PIH1D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465389.2 1 3.310233 KEEP 0 0 0 11 370 GG 0.993072 0.454585 0 - 3 60 94 0 0 7.901358 9 60 274 38 ENST00000262265.5 0.25 0.457757 ALDH16A1 126133 __UNKNOWN__ __UNKNOWN__ 19 49965411 49965411 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:49965411C>T ENST00000293350.4 + 7 1075 ALDH16A1_ENST00000433981.2_Intron|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000455361.2_Intron NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620) cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) tattttgagacggagtttcac 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY007096 CCDS12766.1, CCDS46141.1 19q13.33 2014-08-12 ENSG00000161618 ENSG00000161618 126133 Aldehyde dehydrogenases 28114 protein-coding gene gene with protein product 613358 NA Standard NM_153329 NM_153329 NA Approved MGC10204 uc002pnt.3 Q8IZ83 OTTHUMG00000183163 ENST00000293350.4:c.912+118C>T chr19.hg19:g.49965411C>T NA B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8 hg19 CCDS12766.1 0.02 -0.192954 AGAxGGA COVERED NOVEL ALDH16A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465358.1 0 7.52238 KEEP 0 0 0 25 786 CC 0.999931 0.457725 0 + 3 60 88 0 0 6.49307 18 60 553 50 ENST00000293350.4 0.142857 0.457757 CPT1C 126129 __UNKNOWN__ __UNKNOWN__ 19 50215428 50215428 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:50215428T>C ENST00000392518.4 + 17 2391 CPT1C_ENST00000405931.2_Intron|CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000323446.5_Intron|CPT1C_ENST00000598293.1_Intron NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C NA NA carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202) carnitine O-palmitoyltransferase activity (GO:0004095) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) ggcgaaaccctgtctctacta 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF357970 CCDS12779.1, CCDS46147.1 19q13.33 2014-03-14 ENSG00000169169 126129 18540 protein-coding gene gene with protein product 608846 NA 12376098, 11001805 Standard NM_152359 NM_001136052 NA Approved FLJ23809, CPTIC, CPT1P uc010eng.3 Q8TCG5 ENST00000392518.4:c.2019+210T>C chr19.hg19:g.50215428T>C NA A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84 hg19 CCDS12779.1 0.02 -0.157843 CCCxGTC COVERED NOVEL CPT1C-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465873.1 2 3.008951 KEEP 1 0 0 10 310 TT 0.992708 0.320453 0 + 3 60 88 0 0 6.711264 15 60 436 34 ENST00000392518.4 0.166667 0.322807 VRK3 51231 __UNKNOWN__ __UNKNOWN__ 19 50484289 50484289 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:50484289A>C ENST00000599538.1 - 13 1882 VRK3_ENST00000443401.2_Intron|VRK3_ENST00000316763.3_Intron|VRK3_ENST00000377011.2_Intron|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000594948.1_Intron Q8IV63 VRK3_HUMAN vaccinia related kinase 3 NA NA negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516) nucleus (GO:0005634) ATP binding (GO:0005524)|protein kinase activity (GO:0004672) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) ACAGAAACACATGTGAAAGGT 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(6;90 181 4352 12603 17050 34726 35237 44094) NA 0 38 34 35 NA NA NA 19 NA NA 50484289 2203 4299 6502 SO:0001627 intron_variant AB031052 CCDS12791.1, CCDS33076.1 19q13.33 2011-01-14 ENSG00000105053 ENSG00000105053 51231 18996 protein-coding gene gene with protein product NA Standard NM_016440 XM_005258971 NA Approved uc002prh.1 Q8IV63 ENST00000599538.1:c.1218-19T>G chr19.hg19:g.50484289A>C NA A6NEG5|A8KA53|Q502Y2|Q9P2V8 hg19 CCDS12791.1 0.02 1.991655 CACxTGT COVERED NOVEL VRK3-009 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000464815.1 1 21.961482 KEEP 0 0 0 73 2193 AA 1 0.995687 0 - 4 60 143 0 0 9.631219 63 60 1816 178 ENST00000599538.1 0.059701 0.995687 IGLON5 402665 __UNKNOWN__ __UNKNOWN__ 19 51833069 51833069 __UNKNOWN__ 3'UTR SNP T T C rs200629328 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:51833069T>C ENST00000270642.8 + 0 2067 NM_001101372.1 NP_001094842.1 A6NGN9 IGLO5_HUMAN IgLON family member 5 NA NA extracellular region (GO:0005576) large_intestine(5)|lung(6)|prostate(1) 12 cacacacacatacacacacac 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46158.1 19q13.33 2013-01-29 ENSG00000142549 ENSG00000142549 402665 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 34550 protein-coding gene gene with protein product NA Standard NM_001101372 NM_001101372 NA Approved LOC402665 uc002pwc.2 A6NGN9 OTTHUMG00000154422 ENST00000270642.8:c.*1056T>C chr19.hg19:g.51833069T>C NA hg19 CCDS46158.1 0.02 1.603859 ACAxACA COVERED NOVEL IGLON5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335149.1 18 11.330524 KEEP 0 2 30 49 1299 TT 1 0.999862 0 + 10 60 288 0 1 20.418279 73 60 1840 177 ENST00000270642.8 0.120482 0.999862 ZNF841 284371 __UNKNOWN__ __UNKNOWN__ 19 52596123 52596123 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:52596123T>C ENST00000594295.1 - 1 260 ZNF841_ENST00000389534.4_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_Intron Q6ZN19 ZN841_HUMAN zinc finger protein 841 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(3)|lung(3) 11 cctgtaatcctaacactttgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131409 CCDS46161.1 19q13.41 2013-01-08 ENSG00000197608 ENSG00000197608 284371 Zinc fingers, C2H2-type, - 27611 protein-coding gene gene with protein product NA Standard XM_209155 NM_001136499 NA Approved LOC284371 uc010ydh.1 Q6ZN19 ENST00000594295.1:c.142+975A>G chr19.hg19:g.52596123T>C NA B9EG58|Q6ZN82|Q6ZP71|Q8N9U7 hg19 CCDS46161.1 0.02 -0.184143 TCCxAAC COVERED NOVEL ZNF841-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462437.2 5 2.40622 KEEP 0 0 0 8 232 TT 0.99257 0.420331 0 - 3 60 103 0 0 8.210503 15 60 419 44 ENST00000594295.1 0.166667 0.423478 ZNF766 90321 __UNKNOWN__ __UNKNOWN__ 19 52785610 52785610 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:52785610T>C ENST00000439461.1 + 2 188 ZNF766_ENST00000359102.4_Intron|ZNF766_ENST00000600821.1_Intron|ZNF766_ENST00000593612.1_Intron|ZNF766_ENST00000599581.1_Intron NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) TTGACTTggctgggcacggtg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024074 CCDS46163.1 19q13.33 2013-01-08 ENSG00000196214 90321 Zinc fingers, C2H2-type, - 28063 protein-coding gene gene with protein product NA Standard NM_001010851 XM_006723458 NA Approved uc002pyr.1 Q5HY98 ENST00000439461.1:c.145+120T>C chr19.hg19:g.52785610T>C NA B2RNE0|Q7Z326 hg19 CCDS46163.1 0.02 1.66958 GGCxGGG COVERED NOVEL ZNF766-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462764.1 20 20.589778 KEEP 0 1 33 80 2520 TT 1 0.999487 0 + 4 60 138 0 0 8.93092 71 60 2121 214 ENST00000439461.1 0.053333 0.999487 ZNF766 90321 __UNKNOWN__ __UNKNOWN__ 19 52785615 52785615 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:52785615A>G ENST00000439461.1 + 2 188 ZNF766_ENST00000359102.4_Intron|ZNF766_ENST00000600821.1_Intron|ZNF766_ENST00000593612.1_Intron|ZNF766_ENST00000599581.1_Intron NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) TTggctgggcacggtggctca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024074 CCDS46163.1 19q13.33 2013-01-08 ENSG00000196214 90321 Zinc fingers, C2H2-type, - 28063 protein-coding gene gene with protein product NA Standard NM_001010851 XM_006723458 NA Approved uc002pyr.1 Q5HY98 ENST00000439461.1:c.145+125A>G chr19.hg19:g.52785615A>G NA B2RNE0|Q7Z326 hg19 CCDS46163.1 0.02 1.488028 GGCxCGG COVERED NOVEL ZNF766-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462764.1 18 20.08943 KEEP 0 1 29 77 2308 AA 1 0.999218 0 + 4 60 127 0 0 7.88227 69 60 1972 196 ENST00000439461.1 0.054795 0.999218 ZNF766 90321 __UNKNOWN__ __UNKNOWN__ 19 52785626 52785626 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:52785626T>C ENST00000439461.1 + 2 188 ZNF766_ENST00000359102.4_Intron|ZNF766_ENST00000600821.1_Intron|ZNF766_ENST00000593612.1_Intron|ZNF766_ENST00000599581.1_Intron NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) cggtggctcatgcctgtaatc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024074 CCDS46163.1 19q13.33 2013-01-08 ENSG00000196214 90321 Zinc fingers, C2H2-type, - 28063 protein-coding gene gene with protein product NA Standard NM_001010851 XM_006723458 NA Approved uc002pyr.1 Q5HY98 ENST00000439461.1:c.145+136T>C chr19.hg19:g.52785626T>C NA B2RNE0|Q7Z326 hg19 CCDS46163.1 0.02 1.66637 TCAxGCC COVERED NOVEL ZNF766-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462764.1 11 16.48534 KEEP 1 1 38 68 2142 TT 1 0.997163 0 + 5 60 154 1 0 10.172395 59 60 1734 174 ENST00000439461.1 0.078125 0.997163 ZNF808 388558 __UNKNOWN__ __UNKNOWN__ 19 53058468 53058468 __UNKNOWN__ Missense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:53058468G>A ENST00000359798.4 + 5 2479 c.2299G>A c.(2299-2301)Gac>Aac p.D767N NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 767 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CAAGTGTAACGACTGTGGCAA 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 190 191 191 NA NA NA 19 NA NA 53058468 2203 4300 6503 SO:0001583 missense CR749856 CCDS46167.1 19q13.41 2013-01-08 ENSG00000198482 ENSG00000198482 388558 Zinc fingers, C2H2-type, - 33230 protein-coding gene gene with protein product NA Standard NM_001039886 NM_001039886 NA Approved uc010epq.1 Q8N4W9 OTTHUMG00000158230 ENST00000359798.4:c.2299G>A chr19.hg19:g.53058468G>A ENSP00000352846:p.Asp767Asn NA Q68CN7 hg19 CCDS46167.1 0.02 1.260688 AACxACT COVERED . . . . . . . . . . . 11.24 1.579241 0.28180 . . ENSG00000198482 ENST00000359798 T 0.35789 1.29 1.74 -2.98 0.05513 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.20414 0.0491 N 0.25332 0.735 0.09310 N 1 B 0.32829 0.386 B 0.30401 0.115 T 0.15009 -1.0452 9 0.87932 D 0 . 4.803 0.13307 0.2826:0.1652:0.5523:0.0 . 767 Q8N4W9 ZN808_HUMAN N 767 ENSP00000352846:D767N ENSP00000352846:D767N D + 1 0 ZNF808 57750280 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -1.222000 0.02965 -0.932000 0.03742 -0.339000 0.08088 GAC NOVEL ZNF808-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350447.3 5 32.933907 KEEP 0 1 33 121 3933 GG 1 0.997553 0 + 6 60 167 0 0 10.615161 66 60 2078 248 ENST00000359798.4 0.083333 0.997553 ZNF611 81856 __UNKNOWN__ __UNKNOWN__ 19 53207347 53207347 __UNKNOWN__ 3'UTR SNP G G A rs576762774 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:53207347G>A ENST00000602162.1 - 0 2814 ZNF611_ENST00000453741.2_3'UTR|ZNF611_ENST00000543227.1_3'UTR|ZNF611_ENST00000540744.1_3'UTR Q8N823 ZN611_HUMAN zinc finger protein 611 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) ttggcctcccgacgtgctggg 0.468 NA -||| 1 0.000199681 0 0 5008 , , NA 16549 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091389 CCDS12855.1, CCDS54312.1 19q13.42 2013-01-08 ENSG00000213020 ENSG00000213020 81856 Zinc fingers, C2H2-type, - 28766 protein-coding gene gene with protein product NA 12477932 Standard NM_030972 NM_030972 NA Approved MGC5384 uc010ydq.2 Q8N823 OTTHUMG00000154908 ENST00000602162.1:c.*843C>T chr19.hg19:g.53207347G>A NA B3KRD5|Q69YG9 hg19 CCDS54312.1 0.02 1.499942 CCCxACG COVERED NOVEL ZNF611-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000462990.1 6 6.956846 KEEP 1 1 34 35 1175 GG 0.999999 0.979525 0 - 6 60 184 0 0 13.190969 46 60 1462 135 ENST00000602162.1 0.115385 0.979526 ZNF611 81856 __UNKNOWN__ __UNKNOWN__ 19 53207349 53207349 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:53207349C>A ENST00000602162.1 - 0 2812 ZNF611_ENST00000453741.2_3'UTR|ZNF611_ENST00000543227.1_3'UTR|ZNF611_ENST00000540744.1_3'UTR Q8N823 ZN611_HUMAN zinc finger protein 611 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) ggcctcccgacgtgctgggat 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091389 CCDS12855.1, CCDS54312.1 19q13.42 2013-01-08 ENSG00000213020 ENSG00000213020 81856 Zinc fingers, C2H2-type, - 28766 protein-coding gene gene with protein product NA 12477932 Standard NM_030972 NM_030972 NA Approved MGC5384 uc010ydq.2 Q8N823 OTTHUMG00000154908 ENST00000602162.1:c.*841G>T chr19.hg19:g.53207349C>A NA B3KRD5|Q69YG9 hg19 CCDS54312.1 0.02 1.508676 CGAxGTG COVERED NOVEL ZNF611-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000462990.1 6 7.058451 KEEP 1 1 36 36 1231 CC 1 0.979526 0 - 5 60 154 0 0 10.598058 48 60 1562 135 ENST00000602162.1 0.09434 0.979526 ZNF468 90333 __UNKNOWN__ __UNKNOWN__ 19 53344330 53344330 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:53344330C>G ENST00000595646.1 - 4 1337 c.1217G>C c.(1216-1218)aGt>aCt p.S406T ZNF468_ENST00000390651.4_Missense_Mutation_p.S353T|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.S353T Q5VIY5 ZN468_HUMAN zinc finger protein 468 406 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TTTCTCTCCACTATGAATCCT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 97 98 98 NA NA NA 19 NA NA 53344330 2203 4300 6503 SO:0001583 missense AK023558 CCDS33094.1, CCDS62781.1 19q13.41 2013-01-08 ENSG00000204604 90333 Zinc fingers, C2H2-type, - 33105 protein-coding gene gene with protein product NA 16144304 Standard NM_001008801 NM_001277120 NA Approved uc002qaf.3 Q5VIY5 ENST00000595646.1:c.1217G>C chr19.hg19:g.53344330C>G ENSP00000470381:p.Ser406Thr NA A8MV20|Q5CZB8|Q5VIY4|Q68DI7 hg19 CCDS33094.1 0.02 1.953142 CCAxTAT COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. -|- 0.005|0.005 -2.172839|-2.172839 0.00312|0.00312 .|. .|. ENSG00000204604|ENSG00000204604 ENST00000243639;ENST00000396409;ENST00000390651|ENST00000393865 T;T|. 0.12879|. 2.64;2.64|. 1.88|1.88 -1.21|-1.21 0.09524|0.09524 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|. .|. .|. .|. .|. T|T 0.14527|0.14527 0.0351|0.0351 N|N 0.01424|0.01424 -0.875|-0.875 0.23095|0.23095 N|N 0.998306|0.998306 B|. 0.13594|. 0.008|. B|. 0.11329|. 0.006|. T|T 0.28332|0.28332 -1.0047|-1.0047 9|6 0.02654|0.87932 T|D 1|0 .|. 9.6607|9.6607 0.39954|0.39954 0.0:0.4149:0.5851:0.0|0.0:0.4149:0.5851:0.0 .|. 406|. Q5VIY5|. ZN468_HUMAN|. T|L 406;353;353|155 ENSP00000379690:S353T;ENSP00000445669:S353T|. ENSP00000243639:S406T|ENSP00000377444:V155L S|V -|- 2|1 0|0 ZNF468|ZNF468 58036142|58036142 0.600000|0.600000 0.26899|0.26899 0.924000|0.924000 0.36721|0.36721 0.260000|0.260000 0.26232|0.26232 0.822000|0.822000 0.27352|0.27352 -0.335000|-0.335000 0.08451|0.08451 -0.782000|-0.782000 0.03352|0.03352 AGT|GTG NOVEL ZNF468-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463098.1 10 13.919147 KEEP 0 2 77 73 2628 CC 1 0.989542 0 - 5 60 175 0 0 12.451734 54 60 1811 179 ENST00000595646.1 0.084746 0.989542 ZNF320 162967 __UNKNOWN__ __UNKNOWN__ 19 53369876 53369876 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:53369876T>C ENST00000597909.1 - 6 460 A2RRD8 ZN320_HUMAN zinc finger protein 320 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) gtaatcccagtactttgggag 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF086262 CCDS33095.1 19q13.41 2014-09-04 ENSG00000182986 ENSG00000182986 162967 Zinc fingers, C2H2-type, - 13842 protein-coding gene gene with protein product 606427 NA 11536051 Standard NM_207333 XM_006723059 NA Approved ZFPL, DKFZp686G16228 uc002qag.3 A2RRD8 OTTHUMG00000182797 ENST00000597909.1:c.224-2464A>G chr19.hg19:g.53369876T>C NA Q8NDR6 hg19 0.02 -0.131505 CAGxACT COVERED NOVEL ZNF320-012 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000463767.1 3 2.40572 KEEP 0 0 0 8 224 TT 0.99257 0.22747 0 - 4 60 120 0 0 10.272318 10 60 262 23 ENST00000597909.1 0.285714 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 53665312 53665312 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:53665312A>G NA NA ZNF347 (2999 upstream) : CTD-2245F17.2 (368 downstream) NA NA NA tggccaacatagtgaaaccct 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.53665312A>G NA hg19 0.02 -0.113983 CATxGTG UNCOVERED NOVEL 0 1 2.406443 KEEP 1 0 0 8 239 AA 0.99257 0.16126 0 3 60 83 0 0 6.801506 9 60 254 27 0.25 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 53833041 53833041 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:53833041G>A NA NA FAM90A28P (21144 upstream) : ZNF845 (3960 downstream) NA NA NA tttttgagacggagtcttgct 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.53833041G>A NA hg19 0.02 3.087468 GACxGAG COVERED NOVEL 0 28 11.610691 KEEP 1 5 161 95 3248 GG 1 0.999981 0 9 60 276 2 0 19.38253 77 60 2508 297 0.104651 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 53833048 53833048 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:53833048T>C NA NA FAM90A28P (21151 upstream) : ZNF845 (3953 downstream) NA NA NA gacggagtcttgctctgtcgc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.53833048T>C NA hg19 0.02 3.818102 TCTxGCT COVERED NOVEL 0 25 8.988014 KEEP 1 5 172 90 2779 TT 1 0.999968 0 6 60 191 0 0 12.680975 75 60 2233 272 0.074074 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 53833057 53833057 __UNKNOWN__ IGR SNP G G A rs555044478 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:53833057G>A NA NA FAM90A28P (21160 upstream) : ZNF845 (3944 downstream) NA NA NA ttgctctgtcgcccaggctgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.53833057G>A NA hg19 0.02 0.817612 GTCxCCC COVERED NOVEL 0 18 23.769398 KEEP 0 0 0 79 2778 GG 1 0.999804 0 7 60 178 2 0 11.268237 64 60 2102 226 0.098592 0.999804 PRKCG 5582 __UNKNOWN__ __UNKNOWN__ 19 54396026 54396026 __UNKNOWN__ Intron SNP A A G rs112735174|rs201089150 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:54396026A>G ENST00000263431.3 + 7 1103 PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Intron|PRKCG_ENST00000536044.1_Intron NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma NA NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060) ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270) large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) Tamoxifen(DB00675) acacacacacacacacacacg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M13977 CCDS12867.1 19q13.4 2014-09-17 ENSG00000126583 ENSG00000126583 5582 2.7.11.1 9402 protein-coding gene gene with protein product PKC-gamma 176980 PKCG, SCA14 NA 8432525, 3755548 Standard NM_002739 NM_002739 NA Approved PKCC, MGC57564 uc002qcq.1 P05129 OTTHUMG00000064846 ENST00000263431.3:c.821+129A>G chr19.hg19:g.54396026A>G NA B7Z8Q0 hg19 CCDS12867.1 0.02 -0.236712 CACxCAC COVERED NOVEL PRKCG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139233.3 4 3.602344 KEEP 0 0 0 12 323 AA 0.993634 0.608508 0 + 3 60 97 0 0 7.39284 18 60 483 46 ENST00000263431.3 0.142857 0.612407 NDUFA3 4696 __UNKNOWN__ __UNKNOWN__ 19 54608856 54608856 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:54608856T>G ENST00000485876.1 + 3 127 NDUFA3_ENST00000391763.3_Intron|NDUFA3_ENST00000391764.3_Intron|NDUFA3_ENST00000303553.5_Intron|NDUFA3_ENST00000391762.1_Intron|NDUFA3_ENST00000471292.1_Intron O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739) NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|endometrium(1) 2 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) gattacaggcttgagccactg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044955 CCDS12877.1 19q13.42 2011-07-04 2002-08-29 ENSG00000170906 ENSG00000170906 4696 Mitochondrial respiratory chain complex / Complex I 7686 protein-coding gene gene with protein product complex I B9 subunit 603832 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9) NA 9878551 Standard NM_004542 NM_004542 NA Approved B9 uc002qde.3 O95167 OTTHUMG00000064972 ENST00000485876.1:c.86-385T>G chr19.hg19:g.54608856T>G NA hg19 CCDS12877.1 0.02 1.490962 GGCxTGA COVERED NOVEL NDUFA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139509.5 7 23.441224 KEEP 0 2 75 104 3243 TT 1 0.99993 0 + 5 60 161 0 0 10.208451 81 60 2382 259 ENST00000485876.1 0.05814 0.99993 NDUFA3 4696 __UNKNOWN__ __UNKNOWN__ 19 54610823 54610823 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:54610823C>T ENST00000485876.1 + 0 911 TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391758.1_Intron|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391759.1_Intron O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739) NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|endometrium(1) 2 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) cccaaagtgccgggattacag 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF044955 CCDS12877.1 19q13.42 2011-07-04 2002-08-29 ENSG00000170906 ENSG00000170906 4696 Mitochondrial respiratory chain complex / Complex I 7686 protein-coding gene gene with protein product complex I B9 subunit 603832 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9) NA 9878551 Standard NM_004542 NM_004542 NA Approved B9 uc002qde.3 O95167 OTTHUMG00000064972 ENST00000485876.1:c.*614C>T chr19.hg19:g.54610823C>T NA hg19 CCDS12877.1 0.02 3.006928 TGCxGGG COVERED NOVEL NDUFA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139509.5 9 12.441219 KEEP 1 3 90 73 2454 CC 1 0.999973 0 + 11 70 306 1 0 21.190751 82 60 2610 224 ENST00000485876.1 0.11828 0.999973 CNOT3 4849 __UNKNOWN__ __UNKNOWN__ 19 54655976 54655976 __UNKNOWN__ Missense_Mutation SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:54655976T>C ENST00000406403.1 + 13 3222 c.1619T>C c.(1618-1620)cTg>cCg p.L540P CNOT3_ENST00000221232.5_Missense_Mutation_p.L540P|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000358389.3_Missense_Mutation_p.L359P O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 540 Pro-rich. NA gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829) CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTGAGCCTCTGAGCTCCTTG 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 46 46 46 NA NA NA 19 NA NA 54655976 2203 4300 6503 SO:0001583 missense AF180474 CCDS12880.1 19q13.4 2011-02-14 ENSG00000088038 ENSG00000088038 4849 7879 protein-coding gene gene with protein product NOT3 (negative regulator of transcription 3, yeast) homolog 604910 NOT3 NA 10637334, 9734811 Standard NM_014516 NM_014516 NA Approved NOT3H, KIAA0691, LENG2 uc002qdj.2 O75175 OTTHUMG00000066468 ENST00000406403.1:c.1619T>C chr19.hg19:g.54655976T>C ENSP00000383954:p.Leu540Pro NA Q9NZN7|Q9UF76 hg19 CCDS12880.1 0.02 1.909493 CTCxGAG COVERED . . . . . . . . . . T 12.48 1.950592 0.34377 . . ENSG00000088038 ENST00000221232;ENST00000358389;ENST00000406403 T;T 0.48201 0.82;0.82 4.59 4.59 0.56863 . 0.091438 0.46442 D 0.000282 T 0.28599 0.0708 N 0.11560 0.145 0.80722 D 1 B;B;B 0.20780 0.024;0.009;0.048 B;B;B 0.18871 0.012;0.007;0.023 T 0.07908 -1.0748 10 0.26408 T 0.33 -18.4158 13.2683 0.60146 0.0:0.0:0.0:1.0 . 540;540;464 B7Z6J7;O75175;Q6ZMJ6 .;CNOT3_HUMAN;. P 540;359;540 ENSP00000221232:L540P;ENSP00000383954:L540P ENSP00000221232:L540P L + 2 0 CNOT3 59347788 1.000000 0.71417 0.934000 0.37439 0.991000 0.79684 5.221000 0.65272 1.831000 0.53308 0.533000 0.62120 CTG NOVEL CNOT3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142130.3 1 12.034404 KEEP 0 0 0 40 1231 TT 1 0.994422 0 + 41 60 1339 0 0 134.860051 24 60 692 148 ENST00000406403.1 0.630769 0.994422 LILRB3 11025 __UNKNOWN__ __UNKNOWN__ 19 54720448 54720448 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:54720448A>G ENST00000391750.1 - 0 2546 LILRB3_ENST00000424807.1_3'UTR O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 NA NA cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671) integral component of plasma membrane (GO:0005887) receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888) endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) caaagtgctgagattataggc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U91928 CCDS33105.1, CCDS46175.1 19q13.4 2013-01-11 ENSG00000204577 ENSG00000204577 11025 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6607 protein-coding gene gene with protein product 604820 NA 9278324, 9382880 Standard NM_006864 NM_006864 NA Approved LIR-3, HL9, ILT5, LIR3, CD85a uc002qee.1 O75022 OTTHUMG00000066626 ENST00000391750.1:c.*514T>C chr19.hg19:g.54720448A>G NA C9J1P3|C9JIP1|O15471|Q86U49 hg19 CCDS33105.1 0.02 -0.43821 CTGxGAT COVERED NOVEL LILRB3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000142844.5 6 3.044477 KEEP 1 1 34 22 720 AA 0.999892 0.959755 0 - 6 60 177 0 0 12.821834 41 60 1224 109 ENST00000391750.1 0.12766 0.959859 LILRB4 11006 __UNKNOWN__ __UNKNOWN__ 19 55180218 55180218 __UNKNOWN__ 3'UTR SNP G G C rs147369083 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:55180218G>C ENST00000391736.1 + 0 2410 NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 NA NA immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) gaaacacacagacacacacac 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U82979 CCDS12902.1, CCDS42618.1 19q13.4 2013-01-11 ENSG00000186818 11006 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6608 protein-coding gene gene with protein product 604821 NA 9151699, 9079806 Standard XM_005277050 NA Approved LIR-5, ILT3, HM18, LIR5, CD85k uc002qgp.3 Q8NHJ6 ENST00000391736.1:c.*748G>C chr19.hg19:g.55180218G>C NA A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5 hg19 CCDS12902.1 0.02 1.774529 ACAxACA COVERED NOVEL LILRB4-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141127.3 10 13.477809 KEEP 0 1 26 54 1941 GG 1 0.997163 0 + 4 60 131 0 0 8.544729 59 60 2024 181 ENST00000391736.1 0.063492 0.997163 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55297811 55297811 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:55297811C>T ENST00000402254.2 + 2 67 KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) AGCACCATGTCGCTCATGGTC 0.612 NA OREG0003677 type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000402254.2:c.35-31178C>T chr19.hg19:g.55297811C>T 1006 O43473|Q14946|Q16541 hg19 0.02 1.131525 TGTxGCT COVERED NOVEL KIR3DL1-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 2 3.92084 KEEP 8 6 191 80 2733 CC 1 0.999948 0 + 14 50 421 0 0 31.332807 84 60 2699 288 ENST00000402254.2 0.142857 0.999948 NLRP2 55655 __UNKNOWN__ __UNKNOWN__ 19 55485462 55485462 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:55485462G>A ENST00000543010.1 + 3 423 NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000427260.2_Intron|NLRP2_ENST00000263437.6_Intron|NLRP2_ENST00000448584.2_Intron|NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000537859.1_Intron NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 NA NA positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718) cytoplasm (GO:0005737) ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ggtggctcacgcctgtaatcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000517 CCDS12913.1, CCDS54318.1, CCDS54319.1 19q13.42 2008-02-05 2006-12-08 2006-12-08 ENSG00000022556 ENSG00000022556 55655 Nucleotide-binding domain and leucine rich repeat containing 22948 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2 609364 NACHT, leucine rich repeat and PYD containing 2 NALP2 NA 12563287, 11270363 Standard NM_017852 NM_001174081 NA Approved FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9 uc021vbq.1 Q9NX02 OTTHUMG00000167763 ENST00000543010.1:c.281-406G>A chr19.hg19:g.55485462G>A NA B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3 hg19 CCDS12913.1 0.02 2.964643 CACxCCT COVERED . . . . . . . . . . g 3.552 -0.091565 0.07053 . . ENSG00000022556 ENST00000397169 T 0.63744 -0.06 0.869 -1.74 0.08056 . . . . . T 0.51363 0.1670 . . . 0.09310 N 1 . . . . . . T 0.50127 -0.8864 6 0.87932 D 0 . 2.3806 0.04353 0.0:0.3214:0.3576:0.3209 . . . . T 16 ENSP00000441363:A16T ENSP00000441363:A16T A + 1 0 NLRP2 60177274 0.006000 0.16342 0.000000 0.03702 0.020000 0.10135 0.551000 0.23361 -0.800000 0.04433 0.305000 0.20034 GCC NOVEL NLRP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396152.1 15 12.407709 KEEP 0 2 59 62 2241 GG 1 0.999997 0 + 7 60 206 0 0 12.640032 103 60 3455 255 ENST00000543010.1 0.063636 0.999997 NLRP2 55655 __UNKNOWN__ __UNKNOWN__ 19 55485475 55485475 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:55485475A>G ENST00000543010.1 + 3 423 NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000427260.2_Intron|NLRP2_ENST00000263437.6_Intron|NLRP2_ENST00000448584.2_Intron|NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000537859.1_Intron NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 NA NA positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718) cytoplasm (GO:0005737) ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) tgtaatcccaacactttggga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000517 CCDS12913.1, CCDS54318.1, CCDS54319.1 19q13.42 2008-02-05 2006-12-08 2006-12-08 ENSG00000022556 ENSG00000022556 55655 Nucleotide-binding domain and leucine rich repeat containing 22948 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2 609364 NACHT, leucine rich repeat and PYD containing 2 NALP2 NA 12563287, 11270363 Standard NM_017852 NM_001174081 NA Approved FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9 uc021vbq.1 Q9NX02 OTTHUMG00000167763 ENST00000543010.1:c.281-393A>G chr19.hg19:g.55485475A>G NA B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3 hg19 CCDS12913.1 0.02 4.064709 CCAxCAC COVERED . . . . . . . . . . a 0.067 -1.211239 0.01555 . . ENSG00000022556 ENST00000397169 T 0.60040 0.22 0.814 -1.63 0.08345 . . . . . T 0.50514 0.1620 . . . 0.09310 N 0.999999 . . . . . . T 0.49351 -0.8949 6 0.87932 D 0 . 4.9898 0.14209 0.7248:0.0:0.2752:0.0 . . . . S 20 ENSP00000441363:N20S ENSP00000441363:N20S N + 2 0 NLRP2 60177287 0.022000 0.18835 0.001000 0.08648 0.001000 0.01503 -0.330000 0.07925 -1.242000 0.02523 -1.281000 0.01382 AAC NOVEL NLRP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396152.1 9 5.021499 KEEP 0 3 113 56 1718 AA 1 0.999981 0 + 6 60 206 0 0 13.666512 92 60 2645 219 ENST00000543010.1 0.061224 0.999981 FAM71E2 284418 __UNKNOWN__ __UNKNOWN__ 19 55873730 55873730 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:55873730C>A ENST00000424985.3 - 3 640 c.447G>T c.(445-447)tgG>tgT p.W149C NM_001145402.1 NP_001138874.1 Q8N5Q1 F71E2_HUMAN family with sequence similarity 71, member E2 149 NA NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1) 8 TGAGGCGGACCCAGCAGTGGA 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 19 24 22 NA NA NA 19 NA NA 55873730 692 1591 2283 SO:0001583 missense AL834316 19q13.42 2014-04-02 2007-11-20 2007-11-20 ENSG00000180043 ENSG00000180043 284418 25278 protein-coding gene gene with protein product chromosome 19 open reading frame 16 C19orf16 NA Standard NM_001145402 NM_001145402 NA Approved DKFZp434G1729 uc002qkr.2 Q8N5Q1 OTTHUMG00000170357 ENST00000424985.3:c.447G>T chr19.hg19:g.55873730C>A ENSP00000398617:p.Trp149Cys NA Q8ND99 hg19 0.02 2.728572 GACxCAG COVERED . . . . . . . . . . N 14.23 2.472163 0.43942 . . ENSG00000180043 ENST00000424985 T 0.26810 1.71 3.63 3.63 0.41609 . 0.000000 0.39341 U 0.001391 T 0.53433 0.1796 M 0.86502 2.82 0.48571 D 0.99967 D 0.89917 1.0 D 0.91635 0.999 T 0.61879 -0.6972 10 0.87932 D 0 -9.2121 11.5768 0.50866 0.0:1.0:0.0:0.0 . 149 Q8N5Q1 F71E2_HUMAN C 149 ENSP00000398617:W149C ENSP00000398617:W149C W - 3 0 FAM71E2 60565542 0.991000 0.36638 0.975000 0.42487 0.389000 0.30415 3.804000 0.55568 1.975000 0.57531 0.550000 0.68814 TGG NOVEL FAM71E2-010 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000409063.4 1 16.553232 KEEP 0 0 0 55 1920 CC 1 1 0 - 42 60 1171 1 0 99.695578 100 60 3325 274 ENST00000424985.3 0.295775 1 RPL28 6158 __UNKNOWN__ __UNKNOWN__ 19 55901843 55901843 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:55901843C>G ENST00000560055.1 + 4 362 RPL28_ENST00000458349.2_Intron|RPL28_ENST00000344063.2_3'UTR|RPL28_ENST00000558815.1_Intron P46779 RL28_HUMAN ribosomal protein L28 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) aaagtgctggcattacaggcg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U14969 CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1 19q13.4 2011-04-06 ENSG00000108107 6158 L ribosomal proteins 10330 protein-coding gene gene with protein product 60S ribosomal protein L28 603638 NA 7772601, 9582194 Standard NM_000991 NM_001136134 NA Approved FLJ43307, L28 uc010yga.2 P46779 ENST00000560055.1:c.324+2427C>G chr19.hg19:g.55901843C>G NA B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0 hg19 0.02 1.61453 TGGxATT COVERED NOVEL RPL28-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000416293.1 6 16.389667 KEEP 0 1 36 67 2399 CC 1 0.998867 0 + 6 60 198 1 0 13.627898 68 60 2280 179 ENST00000560055.1 0.081081 0.998867 SBK3 100130827 __UNKNOWN__ __UNKNOWN__ 19 56055463 56055463 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:56055463C>A ENST00000420723.3 - 3 399 NM_001199824.2 NP_001186753.1 P0C264 SBK3_HUMAN SH3 domain binding kinase family, member 3 NA NA ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA CTCGTGGCCTCACCCTTTCCT 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS74457.1 19q13.42 2013-09-27 ENSG00000231274 ENSG00000231274 100130827 44121 protein-coding gene gene with protein product NA Standard NM_001199824 NA Approved SgK110 P0C264 OTTHUMG00000155831 ENST00000420723.3:c.399+2G>T chr19.hg19:g.56055463C>A NA hg19 0.02 2.697411 CCTxACC COVERED NOVEL SBK3-001 KNOWN mRNA_end_NF|cds_end_NF|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000341920.3 0 27.073929 KEEP 0 0 0 90 3043 CC 1 0.999999 0 - 87 60 2407 0 0 249.280291 37 60 1206 294 ENST00000420723.3 0.701613 0.999999 NLRP11 204801 __UNKNOWN__ __UNKNOWN__ 19 56300092 56300092 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:56300092T>C ENST00000589093.1 - 9 2949 NLRP11_ENST00000443188.1_Intron|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000360133.3_Intron P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 NA NA ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ggcaacagagtgagactctgt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY095145 CCDS12935.1, CCDS74458.1 19q13.43 2008-02-05 2006-12-08 2006-12-08 ENSG00000179873 204801 Nucleotide-binding domain and leucine rich repeat containing 22945 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11 609664 NACHT, leucine rich repeat and PYD containing 11 NALP11 NA 12563287, 12019269 Standard NM_145007 NM_145007 NA Approved PYPAF6, NOD17, PAN10, CLR19.6 uc010ygf.2 P59045 ENST00000589093.1:c.2855+80A>G chr19.hg19:g.56300092T>C NA C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5 hg19 CCDS12935.1 0.02 -0.28923 GAGxGAG COVERED NOVEL NLRP11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453657.1 1 4.488251 KEEP 1 0 0 15 370 TT 0.99649 0.758216 0 - 3 60 102 0 1 7.706534 21 60 548 50 ENST00000589093.1 0.125 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 57413796 57413796 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:57413796A>G NA NA MIMT1 (53872 upstream) : USP29 (217614 downstream) NA NA NA ggtggctcacacctgtaatcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.57413796A>G NA hg19 0.02 -0.192971 CACxCCT COVERED NOVEL 0 5 2.40745 KEEP 1 0 0 8 254 AA 0.99257 0.454356 0 3 60 99 0 0 7.891746 14 60 429 51 0.176471 0.457757 ZNF264 9422 __UNKNOWN__ __UNKNOWN__ 19 57723007 57723007 __UNKNOWN__ Missense_Mutation SNP G G C rs2074858 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:57723007G>C ENST00000263095.6 + 4 956 c.542G>C c.(541-543)aGa>aCa p.R181T ZNF264_ENST00000536056.1_Missense_Mutation_p.R181T NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 181 NA R -> T (in dbSNP:rs2074858). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CCAGGAGATAGAGTCCGTAGC 0.438 NA .||| 3113 0.621605 0.8427 0.6369 5008 , , NA 22133 0.3125 NA 0.6481 False NA ,,, NA NA NA 2504 0.6033 NA NA NA NA 0 C THR/ARG 3599,807 322.9+/-297.8 1474,651,78 96 86 89 NA 542 1 0 19 dbSNP_96 89 5197,3403 503.0+/-375.8 1571,2055,674 yes missense ZNF264 NM_003417.4 71 3045,2706,752 CC,CG,GG NA 39.5698,18.3159,32.3697 benign 181/628 57723007 8796,4210 2203 4300 6503 SO:0001583 missense AB007872 CCDS33127.1 19q13.4 2013-01-08 ENSG00000083844 9422 Zinc fingers, C2H2-type, - 13057 protein-coding gene gene with protein product 604668 NA 9455477 Standard NM_003417 NA Approved KIAA0412 uc002qob.3 O43296 ENST00000263095.6:c.542G>C chr19.hg19:g.57723007G>C ENSP00000263095:p.Arg181Thr NA A8K8Y9|Q9P1V0 hg19 CCDS33127.1 0.02 1.69556 ATAxAGT COVERED 1306 0.597985347985348 412 0.8373983739837398 232 0.6408839779005525 172 0.3006993006993007 490 0.6464379947229552 C 0.379 -0.929639 0.02359 0.816841 0.604302 ENSG00000083844 ENST00000263095;ENST00000536056 T;T 0.20598 2.06;2.06 2.04 0.985 0.19779 . . . . . T 0.00012 0.0000 L 0.45581 1.43 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.08046 -1.0741 8 0.54805 T 0.06 . 4.7159 0.12894 0.0:0.6328:0.2246:0.1426 rs2074858;rs2074858 181 O43296 ZN264_HUMAN T 181 ENSP00000263095:R181T;ENSP00000440376:R181T ENSP00000263095:R181T R + 2 0 ZNF264 62414819 0.003000 0.15002 0.008000 0.14137 0.013000 0.08279 -0.779000 0.04659 0.034000 0.15491 -1.001000 0.02504 AGA NOVEL ZNF264-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465080.1 3 17.134539 KEEP 0 0 0 57 1969 GG 1 0.99911 0 + 4 60 135 0 0 8.5381 75 60 2580 191 ENST00000263095.6 0.050633 0.99911 ZNF264 9422 __UNKNOWN__ __UNKNOWN__ 19 57723013 57723013 __UNKNOWN__ Missense_Mutation SNP G G A rs917340 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:57723013G>A ENST00000263095.6 + 4 962 c.548G>A c.(547-549)cGt>cAt p.R183H ZNF264_ENST00000536056.1_Missense_Mutation_p.R183H NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 183 NA R -> H (in dbSNP:rs917340). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) GATAGAGTCCGTAGCCATAAC 0.433 NA .||| 3111 0.621206 0.8427 0.6369 5008 , , NA 22916 0.3125 NA 0.6481 False NA ,,, NA NA NA 2504 0.6012 NA NA NA NA 0 A HIS/ARG 3599,807 750.0+/-412.1 1474,651,78 92 83 86 NA 548 -0.8 0 19 dbSNP_86 86 5198,3402 639.8+/-399.5 1571,2056,673 yes missense ZNF264 NM_003417.4 29 3045,2707,751 AA,AG,GG NA 39.5581,18.3159,32.362 benign 183/628 57723013 8797,4209 2203 4300 6503 SO:0001583 missense AB007872 CCDS33127.1 19q13.4 2013-01-08 ENSG00000083844 9422 Zinc fingers, C2H2-type, - 13057 protein-coding gene gene with protein product 604668 NA 9455477 Standard NM_003417 NA Approved KIAA0412 uc002qob.3 O43296 ENST00000263095.6:c.548G>A chr19.hg19:g.57723013G>A ENSP00000263095:p.Arg183His NA A8K8Y9|Q9P1V0 hg19 CCDS33127.1 0.02 1.216758 TCCxTAG COVERED 1306 0.597985347985348 412 0.8373983739837398 232 0.6408839779005525 172 0.3006993006993007 490 0.6464379947229552 g 0.008 -1.921084 0.00498 0.816841 0.604419 ENSG00000083844 ENST00000263095;ENST00000536056 T;T 0.19938 2.11;2.11 1.79 -0.786 0.10946 . . . . . T 0.00012 0.0000 N 0.00496 -1.435 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.13926 -1.0491 8 0.29301 T 0.29 . 2.5508 0.04748 0.3096:0.0:0.2868:0.4036 rs917340;rs60825977;rs917340 183 O43296 ZN264_HUMAN H 183 ENSP00000263095:R183H;ENSP00000440376:R183H ENSP00000263095:R183H R + 2 0 ZNF264 62414825 0.002000 0.14202 0.000000 0.03702 0.010000 0.07245 -0.941000 0.03925 -0.873000 0.04032 -0.381000 0.06696 CGT NOVEL ZNF264-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465080.1 2 17.148359 KEEP 0 0 0 57 1866 GG 1 0.998867 0 + 5 60 138 0 0 8.168511 72 60 2359 185 ENST00000263095.6 0.064935 0.998867 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58371669 58371669 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:58371669T>C ENST00000339656.5 + 0 2071 ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_3'UTR NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) tggagtcttgttctgtcaccc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*161T>C chr19.hg19:g.58371669T>C NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 5.894839 TTGxTCT COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 28 10.310761 KEEP 0 5 183 98 3192 TT 1 1 0 + 8 60 283 1 1 18.60734 140 60 4173 405 ENST00000339656.5 0.054054 1 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58373262 58373262 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:58373262T>C ENST00000339656.5 + 0 3664 ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000596433.1_3'UTR|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_3'UTR NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) ctcagcctcctgagtagctgg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*1754T>C chr19.hg19:g.58373262T>C NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 -0.298192 TCCxGAG COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 8 4.512996 KEEP 0 0 0 15 457 TT 0.99649 0.778319 0 + 5 60 149 0 0 11.123796 29 60 872 66 ENST00000339656.5 0.147059 0.78106 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58375267 58375267 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:58375267C>T ENST00000339656.5 + 0 5669 ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_3'UTR NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) aaaaattagtcgggcatggtg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*3759C>T chr19.hg19:g.58375267C>T NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 -0.350642 AGTxGGG COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 4 3.61143 KEEP 0 0 0 12 400 CC 0.993634 0.87212 0 + 4 60 103 0 0 6.618391 35 60 1083 54 ENST00000339656.5 0.102564 0.877708 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58375759 58375759 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:58375759T>C ENST00000339656.5 + 0 6161 ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) ctcggcctcctaaagtgctgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*4251T>C chr19.hg19:g.58375759T>C NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 3.610803 TCCxAAA COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 17 4.822991 KEEP 1 6 209 89 2761 TT 1 1 0 + 6 57 211 0 0 13.713275 110 67 3199 302 ENST00000339656.5 0.051724 1 CTD-2368P22.1 0 __UNKNOWN__ __UNKNOWN__ 19 58518229 58518229 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:58518229A>C ENST00000550135.1 + 0 2067 NA NA NA gcactccagcatgggcaaaaa 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000550135.1:c.*862A>C chr19.hg19:g.58518229A>C NA hg19 0.02 5.856576 AGCxTGG COVERED NOVEL CTD-2368P22.1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000405971.1 22 14.140857 KEEP 0 3 97 81 2511 AA 1 1 0 + 8 60 263 0 0 16.735324 135 60 3989 363 ENST00000550135.1 0.055944 1 ZBTB45 84878 __UNKNOWN__ __UNKNOWN__ 19 59025459 59025459 __UNKNOWN__ Missense_Mutation SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr19:59025459G>C ENST00000594051.1 - 3 1978 c.1498C>G c.(1498-1500)Ctg>Gtg p.L500V ZBTB45_ENST00000354590.3_Missense_Mutation_p.L500V|ZBTB45_ENST00000600990.1_Missense_Mutation_p.L500V Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 500 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CGCTCCAGCAGCGCGCGGTGC 0.751 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(164;1383 2017 5233 27540 46677) NA 0 6 8 7 NA NA NA 19 NA NA 59025459 2062 4028 6090 SO:0001583 missense AK027392 CCDS12984.1 19q13.43 2013-10-10 2006-09-19 2006-09-19 ENSG00000119574 ENSG00000119574 84878 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 23715 protein-coding gene gene with protein product zinc finger protein 499 ZNF499 NA Standard NM_032792 NM_032792 NA Approved FLJ14486 uc002qtd.3 Q96K62 OTTHUMG00000183545 ENST00000594051.1:c.1498C>G chr19.hg19:g.59025459G>C ENSP00000469089:p.Leu500Val NA hg19 CCDS12984.1 0.02 1.678036 GCAxCGC COVERED . . . . . . . . . . g 18.60 3.657958 0.67586 . . ENSG00000119574 ENST00000354590 T 0.09445 2.98 4.85 3.81 0.43845 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3); 0.000000 0.45126 D 0.000399 T 0.13500 0.0327 L 0.28400 0.85 0.33214 D 0.553808 D 0.56968 0.978 P 0.55112 0.769 T 0.14559 -1.0468 10 0.18710 T 0.47 . 11.156 0.48489 0.0921:0.0:0.9079:0.0 . 500 Q96K62 ZBT45_HUMAN V 500 ENSP00000346603:L500V ENSP00000346603:L500V L - 1 2 ZBTB45 63717271 0.993000 0.37304 0.987000 0.45799 0.589000 0.36550 2.136000 0.42121 1.180000 0.42898 -0.436000 0.05848 CTG NOVEL ZBTB45-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000467067.1 0 4.214029 KEEP 0 0 0 14 523 GG 0.995343 0.994664 0 - 36 60 1178 0 0 111.063568 44 60 1515 126 ENST00000594051.1 0.45 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 414916 414916 __UNKNOWN__ IGR SNP A A G rs370465044 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:414916A>G NA NA RBCK1 (3306 upstream) : TBC1D20 (1207 downstream) NA NA NA aaagtgctggaattataggcg 0.537 NA A||| 4 0.000798722 0 0.0014 5008 , , NA 16581 0 NA 0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.414916A>G NA hg19 0.02 -0.1228 TGGxATT COVERED NOVEL 0 6 3.610979 KEEP 1 0 0 12 381 AA 0.993634 0.195062 0 5 60 162 0 0 15.293968 6 60 179 42 0.454545 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 414921 414921 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:414921T>C NA NA RBCK1 (3311 upstream) : TBC1D20 (1202 downstream) NA NA NA gctggaattataggcgtgagc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.414921T>C NA hg19 0.02 -0.140333 TTAxAGG COVERED NOVEL 0 7 3.611087 KEEP 1 0 0 12 377 TT 0.993634 0.259304 0 3 60 99 0 0 8.532621 8 60 232 44 0.272727 0.260965 CSNK2A1 1457 __UNKNOWN__ __UNKNOWN__ 20 459315 459315 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:459315C>G ENST00000400227.3 - 13 1283 c.1150G>C c.(1150-1152)Gag>Cag p.E384Q P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 0 NA axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580) ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) gctcatgcctctaatctcagc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense M55265 CCDS13003.1, CCDS13004.1 20p13 2013-01-17 ENSG00000101266 ENSG00000101266 1457 2457 protein-coding gene gene with protein product 115440 NA 2174700, 1766873 Standard NM_001895 NM_177559 NA Approved uc002wdx.1 P68400 OTTHUMG00000031636 ENST00000400227.3:c.1150G>C chr20.hg19:g.459315C>G ENSP00000383086:p.Glu384Gln NA B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065 hg19 0.02 -0.412314 CCTxTAA COVERED . . . . . . . . . . C 0.016 -1.523671 0.00959 . . ENSG00000101266 ENST00000400227 T 0.57752 0.38 0.468 -0.935 0.10423 . . . . . T 0.34164 0.0888 . . . 0.09310 N 1 . . . . . . T 0.21793 -1.0235 5 0.33940 T 0.23 . . . . . . . . Q 384 ENSP00000383086:E384Q ENSP00000383086:E384Q E - 1 0 CSNK2A1 407315 0.000000 0.05858 0.004000 0.12327 0.004000 0.04260 -2.782000 0.00772 -1.772000 0.01292 -1.765000 0.00666 GAG NOVEL CSNK2A1-201 KNOWN basic protein_coding NA protein_coding 13 6.320839 KEEP 0 0 0 21 764 CC 0.999869 0.941618 0 - 3 60 107 0 0 7.505098 37 60 1267 98 ENST00000400227.3 0.075 0.941741 SIRPB2 284759 __UNKNOWN__ __UNKNOWN__ 20 1455501 1455501 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:1455501A>G ENST00000359801.3 - 0 2376 NM_001122962.1 NP_001116434.1 Q9P1W8 SIRPG_HUMAN signal-regulatory protein beta 2 NA NA blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ttacatgcataagccaccgtg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL109658 CCDS42849.1, CCDS46570.1 20p13 2013-01-11 2006-02-03 2006-02-03 ENSG00000196209 ENSG00000196209 284759 Signal-regulatory proteins, Immunoglobulin superfamily / V-set domain containing 16247 protein-coding gene gene with protein product protein tyrosine phosphatase, non-receptor type 1-like, protein tyrosine phosphatase, non-receptor type substrate 1-like 3 PTPN1L, PTPNS1L3 NA 16339511 Standard NM_178459 NM_001122962 NA Approved dJ776F14.2 uc002wfg.2 Q5JXA9 OTTHUMG00000031670 ENST00000359801.3:c.*1311T>C chr20.hg19:g.1455501A>G NA B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8 hg19 CCDS42849.1 0.02 1.839317 CATxAGC COVERED NOVEL SIRPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077544.1 17 7.770114 KEEP 1 0 0 26 743 AA 0.999931 0.998131 0 - 4 60 131 0 0 8.5435 59 60 1647 136 ENST00000359801.3 0.063492 0.9982 RP4-576H24.4 0 __UNKNOWN__ __UNKNOWN__ 20 1558985 1558985 __UNKNOWN__ Splice_Site SNP G G A rs200840558 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:1558985G>A ENST00000564763.1 - 2 496 c.432C>T c.(430-432)cgC>cgT p.R144R SIRPB1_ENST00000381603.3_Splice_Site_p.R144R|SIRPB1_ENST00000262929.5_Splice_Site_p.R143R|SIRPB1_ENST00000381605.4_Splice_Site_p.R144R NA NA NA TGTACTCACCGCGCACAGACA 0.552 NA A||| 3 0.000599042 0.0015 0 5008 , , NA 18196 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 118 105 110 NA NA NA 20 NA NA 1558985 2196 4235 6431 SO:0001630 splice_region_variant NA NA NA NA ENST00000564763.1:c.433+1C>T chr20.hg19:g.1558985G>A NA hg19 0.02 2.626487 ACCxCGC COVERED NOVEL RP4-576H24.4-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000421423.1 3 16.189663 KEEP 2 4 123 97 3406 GG 1 1 0 Silent - 9 60 265 0 0 16.635445 120 60 3958 335 ENST00000564763.1 0.069767 1 RP4-576H24.4 0 __UNKNOWN__ __UNKNOWN__ 20 1559075 1559075 __UNKNOWN__ Silent SNP G G A rs142943219 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:1559075G>A ENST00000564763.1 - 2 406 c.342C>T c.(340-342)gaC>gaT p.D114D SIRPB1_ENST00000381603.3_Silent_p.D114D|SIRPB1_ENST00000262929.5_Silent_p.D113D|SIRPB1_ENST00000381605.4_Silent_p.D114D NA NA p.D114D(1) NA AGGTGCCGGCGTCTGCTGGGG 0.522 NA A||| 7 0.00139776 0.003 0 5008 , , NA 18358 0 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) A , 3,4393 0,3,2195 220 189 199 NA 342,342 1.4 0.3 20 dbSNP_134 199 15,8493 0,15,4239 no coding-synonymous,coding-synonymous SIRPB1 NM_001083910.2,NM_006065.3 , 0,18,6434 AA,AG,GG NA 0.1763,0.0682,0.1395 , 114/182,114/399 1559075 18,12886 2198 4254 6452 SO:0001819 synonymous_variant NA NA NA NA ENST00000564763.1:c.342C>T chr20.hg19:g.1559075G>A NA hg19 0.02 1.036021 GGCxTCT COVERED NOVEL RP4-576H24.4-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000421423.1 1 11.704834 KEEP 2 2 60 60 1999 GG 1 0.992926 0 - 6 45 153 0 0 9.578983 57 60 1849 139 ENST00000564763.1 0.095238 0.992926 STK35 140901 __UNKNOWN__ __UNKNOWN__ 20 2098185 2098185 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:2098185A>G ENST00000381482.3 + 3 1913 STK35_ENST00000246032.3_Intron|STK35_ENST00000400064.3_Intron Q8TDR2 STK35_HUMAN serine/threonine kinase 35 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2) 13 ccacctcccgagttcaagtga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL359916 CCDS13024.1, CCDS13024.2 20p13 2008-07-02 ENSG00000125834 ENSG00000125834 140901 16254 protein-coding gene gene with protein product CLP-36 interacting kinase 609370 NA 11973348 Standard NM_080836 NM_080836 NA Approved bA550O8.2, CLIK1 uc002wfw.4 Q8TDR2 OTTHUMG00000031688 ENST00000381482.3:c.1602+124A>G chr20.hg19:g.2098185A>G NA B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06 hg19 CCDS13024.2 0.02 -0.368317 CCGxGTT COVERED NOVEL STK35-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077574.3 0 11.465606 KEEP 0 1 34 50 1482 AA 1 0.899314 0 + 4 60 124 0 0 8.711983 35 60 998 95 ENST00000381482.3 0.102564 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 2237255 2237255 __UNKNOWN__ IGR SNP G G A rs530660810 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:2237255G>A NA NA RP11-128M1.1 (43458 upstream) : TGM3 (39391 downstream) NA NA NA caaggcgggcggatcacctga 0.483 NA G||| 8 0.00159744 0.0053 0.0014 5008 , , NA 17255 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.2237255G>A NA hg19 0.02 -0.280697 GGCxGAT UNCOVERED NOVEL 0 18 2.407696 KEEP 12 0 0 8 269 GG 0 0 0 5 60 146 0 0 11.198382 24 60 792 76 0.172414 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 3053198 3053198 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:3053198G>C NA NA OXT (35 upstream) : AVP (10003 downstream) NA NA NA AAATGGGACGGGGAGGGGGCA 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.3053198G>C NA hg19 0.02 5.821177 ACGxGGA COVERED NOVEL 0 2 30.396917 KEEP 0 0 0 101 3512 GG 1 1 0 71 70 2367 0 0 219.248986 104 60 3533 370 0.405714 1 C20orf194 25943 __UNKNOWN__ __UNKNOWN__ 20 3240742 3240742 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:3240742C>T ENST00000252032.9 - 32 2941 C20orf194_ENST00000453730.2_Intron NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 NA NA NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 tcccagcactctgggaggccg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL110249 CCDS42851.1 20p13 2012-10-30 ENSG00000088854 ENSG00000088854 25943 17721 protein-coding gene gene with protein product 614146 NA Standard NM_001009984 NM_001009984 NA Approved DKFZp434N061 uc002wii.3 Q5TEA3 OTTHUMG00000031742 ENST00000252032.9:c.2874-68G>A chr20.hg19:g.3240742C>T NA Q66K86|Q6P2R9|Q9UFX9 hg19 CCDS42851.1 0.02 1.383804 ACTxTGG COVERED NOVEL C20orf194-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077734.1 10 8.423095 KEEP 15 0 0 28 967 CC 0.999988 0.984149 0 - 5 60 126 0 0 7.826981 50 60 1712 116 ENST00000252032.9 0.090909 0.984161 AP5S1 55317 __UNKNOWN__ __UNKNOWN__ 20 3805503 3805503 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:3805503T>C ENST00000246041.2 + 0 1381 AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_3'UTR Q9NUS5 AP5S1_HUMAN adaptor-related protein complex 5, sigma 1 subunit NA NA double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031) AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634) NA cacttgaacctgggaggcaga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002030 CCDS13070.1 20p13 2012-02-27 2012-02-27 2012-02-27 ENSG00000125843 ENSG00000125843 55317 15875 protein-coding gene gene with protein product 614824 chromosome 20 open reading frame 29 C20orf29 NA 11780052, 22022230 Standard NM_018347 NM_001204446 NA Approved FLJ11168 uc002wjs.2 Q9NUS5 OTTHUMG00000031760 ENST00000246041.2:c.*559T>C chr20.hg19:g.3805503T>C NA B3KSD0|D3DVY7 hg19 CCDS13070.1 0.02 1.616774 ACCxGGG COVERED NOVEL AP5S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077768.2 14 5.717695 KEEP 0 0 0 19 613 TT 0.99986 0.999628 0 + 4 60 131 0 0 8.015919 81 60 2435 146 ENST00000246041.2 0.047059 0.999768 MAVS 57506 __UNKNOWN__ __UNKNOWN__ 20 3849246 3849246 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:3849246G>A ENST00000428216.2 + 0 4203 NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein NA NA activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778) CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 gtgccactgcgctccagcctg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant DQ174270 CCDS33437.1, CCDS56176.1 20p13 2009-04-02 ENSG00000088888 ENSG00000088888 57506 29233 protein-coding gene gene with protein product virus-induced signaling adaptor, IFN-B promoter stimulator 1, CARD adaptor inducing IFN-beta 609676 NA 16125763, 16153868 Standard NM_020746 NM_020746 NA Approved VISA, KIAA1271, IPS-1, Cardif uc002wjw.4 Q7Z434 OTTHUMG00000031765 ENST00000428216.2:c.*2452G>A chr20.hg19:g.3849246G>A NA A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9 hg19 CCDS33437.1 0.02 4.464588 TGCxCTC COVERED NOVEL MAVS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077784.3 25 10.26918 KEEP 1 3 81 63 2091 GG 1 1 0 + 9 60 269 0 0 16.37504 143 70 4786 362 ENST00000428216.2 0.059211 1 SLC23A2 9962 __UNKNOWN__ __UNKNOWN__ 20 4988656 4988656 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:4988656G>A ENST00000379333.1 - 1 112 SLC23A2_ENST00000468355.1_Intron NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 NA NA L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767) apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 cctgggttcaggcgattctcc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF058319 CCDS13085.1 20p13 2013-07-18 2013-07-18 2003-03-21 ENSG00000089057 ENSG00000089057 9962 Solute carriers 10973 protein-coding gene gene with protein product 603791 solute carrier family 23 (nucleobase transporters), member 1 SLC23A1 NA 9804989, 10331392 Standard NM_005116 NA Approved SVCT2, KIAA0238, YSPL2 uc002wlh.1 Q9UGH3 OTTHUMG00000031793 ENST00000379333.1:c.280+2171C>T chr20.hg19:g.4988656G>A NA B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85 hg19 CCDS13085.1 0.02 -0.096498 TCAxGCG UNCOVERED NOVEL SLC23A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077832.1 6 2.708834 KEEP 0 0 0 9 320 GG 0.99254 0.119538 0 - 3 38 94 0 0 8.032171 8 60 281 29 ENST00000379333.1 0.272727 0.120436 C20orf196 149840 __UNKNOWN__ __UNKNOWN__ 20 5752802 5752802 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:5752802A>G ENST00000303142.6 + 2 83 C20orf196_ENST00000378979.4_Intron NM_152504.2 NP_689717.2 Q8IYI0 CT196_HUMAN chromosome 20 open reading frame 196 NA NA endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 9 gattacaggtatgagccagtg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057796 CCDS13091.1 20p12.3 2006-07-07 ENSG00000171984 ENSG00000171984 149840 26318 protein-coding gene gene with protein product NA 12477932 Standard NM_152504 NM_152504 NA Approved FLJ25067 uc002wmf.3 Q8IYI0 OTTHUMG00000031813 ENST00000303142.6:c.-4-706A>G chr20.hg19:g.5752802A>G NA A8K9J3|Q5TGA9|Q96LU1 hg19 CCDS13091.1 0.02 1.774789 GGTxTGA COVERED . . . . . . . . . . G 1.115 -0.657107 0.03480 . . ENSG00000171984 ENST00000541651 . . . 0.149 0.149 0.14863 . . . . . T 0.08935 0.0221 . . . 0.09310 N 1 . . . . . . T 0.29761 -1.0001 4 0.02654 T 1 . . . . . . . . V 35 . ENSP00000441395:M35V M + 1 0 C20orf196 5700802 0.009000 0.17119 0.010000 0.14722 0.010000 0.07245 -0.796000 0.04575 -1.066000 0.03164 -1.063000 0.02288 ATG NOVEL C20orf196-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077882.2 16 5.11483 KEEP 2 0 0 17 513 AA 0.999366 0.996092 0 + 4 60 139 0 0 9.429531 56 60 1566 133 ENST00000303142.6 0.066667 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 6521061 6521061 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:6521061C>G NA NA RP11-199O14.1 (11955 upstream) : RP5-859D4.3 (190843 downstream) NA NA NA ctcccaaagtcctgggataac 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.6521061C>G NA hg19 0.02 -0.096502 AGTxCTG UNCOVERED NOVEL 0 3 2.373271 KEEP 0 0 0 8 257 CC 0.99257 0.119541 0 3 60 103 0 0 9.243431 6 60 210 30 0.333333 0.120436 PLCB1 23236 __UNKNOWN__ __UNKNOWN__ 20 8785402 8785402 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:8785402C>T ENST00000338037.6 + 31 3450 PLCB1_ENST00000378641.3_Intron NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) NA NA activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 tttgggaggccgaggtggatg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011153 CCDS13102.1, CCDS13103.1 20p12 2008-03-18 ENSG00000182621 ENSG00000182621 23236 3.1.4.11 15917 protein-coding gene gene with protein product 607120 NA 10760467, 11118617 Standard NM_015192 NA Approved KIAA0581, PLC-I, PLC154 uc002wnb.4 Q9NQ66 OTTHUMG00000031849 ENST00000338037.6:c.3423+14494C>T chr20.hg19:g.8785402C>T NA D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26 hg19 CCDS13102.1 0.02 -0.17544 GGCxGAG COVERED NOVEL PLCB1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077938.3 6 2.407715 KEEP 1 0 0 8 270 CC 0.99257 0.384528 0 + 3 26 86 0 0 6.434246 16 60 537 46 ENST00000338037.6 0.157895 0.387407 JAG1 182 __UNKNOWN__ __UNKNOWN__ 20 10622501 10622501 __UNKNOWN__ Missense_Mutation SNP G G C rs35761929 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:10622501G>C ENST00000254958.5 - 22 3127 c.2612C>G c.(2611-2613)cCa>cGa p.P871R JAG1_ENST00000423891.2_Missense_Mutation_p.P712R NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 871 NA P -> R (in biliary atresia; extrahepatic; dbSNP:rs35761929). {ECO:0000269|PubMed:12297837}. angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456) apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198) biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GGCCCCATCTGGTATCACACT 0.522 NA Alagille Syndrome G||| 265 0.0529153 0.003 0.0288 5008 , , NA 22044 0.0258 NA 0.0726 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 GRCh37 CM023740|CP984551 JAG1 M|X rs35761929 G ARG/PRO 64,4342 60.5+/-97.4 1,62,2140 201 176 184 NA 2612 3.9 0.8 20 dbSNP_126 184 562,8038 153.0+/-207.5 17,528,3755 yes missense JAG1 NM_000214.2 103 18,590,5895 CC,CG,GG NA 6.5349,1.4526,4.8132 possibly-damaging 871/1219 10622501 626,12380 2203 4300 6503 SO:0001583 missense Familial Cancer Database ALGS1, ALGS2.Alagille-Watson syndrome U61276 CCDS13112.1 20p12.1-p11.23 2011-05-12 2010-06-24 ENSG00000101384 ENSG00000101384 182 CD molecules 6188 protein-coding gene gene with protein product 601920 Alagille syndrome AGS, JAGL1 NA 7697721, 9207788 Standard NM_000214 NM_000214 NA Approved AHD, AWS, HJ1, CD339 uc002wnw.2 P78504 OTTHUMG00000031872 ENST00000254958.5:c.2612C>G chr20.hg19:g.10622501G>C ENSP00000254958:p.Pro871Arg NA A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816 hg19 CCDS13112.1 0.02 3.502236 TCTxGTA COVERED 93 0.042582417582417584 4 0.008130081300813009 13 0.03591160220994475 15 0.026223776223776224 61 0.08047493403693931 G 20.9 4.070375 0.76301 0.014526 0.065349 ENSG00000101384 ENST00000254958;ENST00000423891 T;D 0.85861 -0.11;-2.04 5.84 3.89 0.44902 von Willebrand factor, type C (1); 0.206142 0.51477 D 0.000084 T 0.36026 0.0952 L 0.52206 1.635 0.46954 D 0.999268 D 0.60575 0.988 P 0.60345 0.873 T 0.67154 -0.5742 10 0.52906 T 0.07 . 11.3551 0.49611 0.1463:0.0:0.8537:0.0 rs35761929;rs61729454 871 P78504 JAG1_HUMAN R 871;712 ENSP00000254958:P871R;ENSP00000389519:P712R ENSP00000254958:P871R P - 2 0 JAG1 10570501 1.000000 0.71417 0.815000 0.32552 0.991000 0.79684 3.993000 0.56987 0.794000 0.33899 0.650000 0.86243 CCA NOVEL JAG1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 3 28.290274 KEEP 0 0 0 94 3306 GG 1 1 0 - 7 60 235 0 0 14.98514 124 60 4153 320 ENST00000254958.5 0.053435 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 11164365 11164365 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:11164365A>G NA NA C20orf187 (154351 upstream) : RP4-734C18.1 (50452 downstream) NA NA NA ccaaagtgctaggattacaga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.11164365A>G NA hg19 0.02 -0.183955 GCTxGGA COVERED NOVEL 0 7 2.708142 KEEP 1 0 0 9 278 AA 0.99254 0.420319 0 3 60 98 0 0 7.563096 17 60 479 45 0.15 0.423478 MACROD2 140733 __UNKNOWN__ __UNKNOWN__ 20 15032573 15032573 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:15032573G>A ENST00000217246.4 + 6 813 MACROD2_ENST00000310348.4_Intron NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 NA NA brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278) nucleus (GO:0005634) deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798) breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) aattttttgtgtttttagtag 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC101218 CCDS13120.2, CCDS33443.1 20p12.1 2011-04-28 2007-07-24 2007-07-24 ENSG00000172264 ENSG00000172264 140733 16126 protein-coding gene gene with protein product 611567 chromosome 20 open reading frame 133 C20orf133 NA Standard NM_080676 NM_080676 NA Approved dJ631M13.5 uc002wot.3 A1Z1Q3 OTTHUMG00000031919 ENST00000217246.4:c.419-178013G>A chr20.hg19:g.15032573G>A NA A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71 hg19 CCDS13120.2 0.02 -0.114021 TGTxTTT UNCOVERED NOVEL MACROD2-010 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195553.3 1 2.407924 KEEP 0 0 0 8 290 GG 0.99257 0.16126 0 + 4 60 109 0 1 9.323039 9 60 306 23 ENST00000217246.4 0.307692 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 18177618 18177618 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:18177618A>G NA NA CSRP2BP (8587 upstream) : RN7SL14P (61581 downstream) NA NA NA gattacaggcataagccaccg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.18177618A>G NA hg19 0.02 -0.21922 GGCxTAA COVERED NOVEL 0 9 3.310169 KEEP 0 0 0 11 348 AA 0.993072 0.549057 0 3 60 96 0 0 7.165203 20 60 593 43 0.130435 0.552887 DZANK1 55184 __UNKNOWN__ __UNKNOWN__ 20 18364983 18364983 __UNKNOWN__ 3'UTR SNP G G A rs369660944 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:18364983G>A ENST00000358866.6 - 0 2341 DZANK1_ENST00000329494.5_3'UTR|DZANK1_ENST00000262547.5_3'UTR|DZANK1_ENST00000357236.4_3'UTR|DZANK1_ENST00000487128.1_5'UTR Q9NVP4 DZAN1_HUMAN double zinc ribbon and ankyrin repeat domains 1 NA NA zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 gattacaggcgtaagccactg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001462 CCDS46582.1 20p11.23 2013-01-11 2011-10-03 2011-10-03 ENSG00000089091 ENSG00000089091 55184 Ankyrin repeat domain containing 15858 protein-coding gene gene with protein product ankyrin repeat domain 64 chromosome 20 open reading frame 12 C20orf84, C20orf12 NA Standard NM_001099407 NM_001099407 NA Approved FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64 uc002wqq.4 Q9NVP4 OTTHUMG00000031968 ENST00000358866.6:c.*60C>T chr20.hg19:g.18364983G>A NA B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442 hg19 CCDS46582.1 0.02 0.969008 GGCxTAA COVERED NOVEL DZANK1-011 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471926.1 13 8.861808 KEEP 0 1 33 41 1352 GG 1 0.999907 0 - 5 60 145 0 0 8.562534 83 60 2707 192 ENST00000358866.6 0.056818 0.999907 DZANK1 55184 __UNKNOWN__ __UNKNOWN__ 20 18364985 18364985 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:18364985A>G ENST00000358866.6 - 0 2339 DZANK1_ENST00000329494.5_3'UTR|DZANK1_ENST00000262547.5_3'UTR|DZANK1_ENST00000357236.4_3'UTR|DZANK1_ENST00000487128.1_5'UTR Q9NVP4 DZAN1_HUMAN double zinc ribbon and ankyrin repeat domains 1 NA NA zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 ttacaggcgtaagccactgtg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001462 CCDS46582.1 20p11.23 2013-01-11 2011-10-03 2011-10-03 ENSG00000089091 ENSG00000089091 55184 Ankyrin repeat domain containing 15858 protein-coding gene gene with protein product ankyrin repeat domain 64 chromosome 20 open reading frame 12 C20orf84, C20orf12 NA Standard NM_001099407 NM_001099407 NA Approved FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64 uc002wqq.4 Q9NVP4 OTTHUMG00000031968 ENST00000358866.6:c.*58T>C chr20.hg19:g.18364985A>G NA B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442 hg19 CCDS46582.1 0.02 1.564296 CGTxAGC COVERED NOVEL DZANK1-011 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471926.1 13 5.356955 KEEP 0 2 72 43 1257 AA 1 0.999907 0 - 7 60 238 0 0 16.49794 82 60 2309 197 ENST00000358866.6 0.078652 0.999907 RBBP9 10741 __UNKNOWN__ __UNKNOWN__ 20 18469171 18469171 __UNKNOWN__ 3'UTR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:18469171C>A ENST00000337227.4 - 0 1873 NM_006606.2 NP_006597.2 O75884 RBBP9_HUMAN retinoblastoma binding protein 9 NA NA regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634) hydrolase activity (GO:0016787) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1) 9 cagcctcccacagtgctggga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF039564 CCDS13136.1 20p11.2 2008-08-01 2001-11-28 ENSG00000089050 ENSG00000089050 10741 9892 protein-coding gene gene with protein product 602908 retinoblastoma-binding protein 9 NA 9697699, 10449909 Standard NM_006606 NM_006606 NA Approved Bog uc002wqy.3 O75884 OTTHUMG00000031972 ENST00000337227.4:c.*1237G>T chr20.hg19:g.18469171C>A NA D3DW31|Q5JPH9|Q9H1D8 hg19 CCDS13136.1 0.02 -0.3421 CCAxAGT COVERED NOVEL RBBP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078175.1 6 4.514873 KEEP 0 0 0 15 547 CC 0.99649 0.874627 0 - 4 60 113 2 0 7.811236 31 60 1047 70 ENST00000337227.4 0.114286 0.877708 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20518002 20518002 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:20518002A>G ENST00000202677.7 - 25 3293 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 ggtggctcacacctgtaatcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.3286-574T>C chr20.hg19:g.20518002A>G NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 -0.22797 CACxCCT COVERED NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 13 2.707685 KEEP 3 0 0 9 268 AA 0.99257 0.578599 0 - 3 60 92 1 0 6.709183 21 60 601 52 ENST00000202677.7 0.125 0.58293 CD93 22918 __UNKNOWN__ __UNKNOWN__ 20 23063207 23063207 __UNKNOWN__ 3'UTR SNP A A T rs6048536 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:23063207A>T ENST00000246006.4 - 0 3486 NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule NA NA macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032) cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) tgtgtgtgtgagagagagaga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U94333 CCDS13149.1 20p11.21 2009-01-29 2006-03-28 2006-02-22 ENSG00000125810 ENSG00000125810 22918 CD molecules 15855 protein-coding gene gene with protein product 120577 matrix-remodelling associated 4, complement component 1, q subcomponent, receptor 1, CD93 antigen MXRA4, C1QR1 NA 9047234, 10648005 Standard NM_012072 NM_012072 NA Approved C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3 uc002wsv.3 Q9NPY3 OTTHUMG00000032058 ENST00000246006.4:c.*1380T>A chr20.hg19:g.23063207A>T NA O00274 hg19 CCDS13149.1 0.02 1.289778 GTGxGAG COVERED NOVEL CD93-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078312.2 18 3.544809 KEEP 2 1 32 23 715 AA 0.999909 0.999128 0 - 7 60 200 0 0 13.251544 68 60 1977 143 ENST00000246006.4 0.093333 0.999218 FAM182B 728882 __UNKNOWN__ __UNKNOWN__ 20 25826570 25826570 __UNKNOWN__ Intron SNP G G A rs201532644 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:25826570G>A ENST00000376403.1 - 2 386 FAM182B_ENST00000478164.1_Intron|FAM182B_ENST00000376404.2_Intron Q5T319 F182B_HUMAN family with sequence similarity 182, member B NA NA lung(1) 1 TGCAAACCTCGGTGTGACATC 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20p11.1 2010-07-14 ENSG00000175170 ENSG00000175170 728882 34503 pseudogene pseudogene NA Standard NR_026714 NR_027061 NA Approved Q5T319 OTTHUMG00000032136 ENST00000376403.1:c.7+2770C>T chr20.hg19:g.25826570G>A NA Q4G0Q1 hg19 0.02 -0.350886 CTCxGTG COVERED NOVEL FAM182B-003 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000078463.2 2 3.009817 KEEP 11 0 0 10 352 GG 0.99257 0.871187 0 - 3 40 93 0 0 6.749313 22 48 721 101 ENST00000376403.1 0.12 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 25859611 25859611 __UNKNOWN__ IGR SNP A A G rs79230138 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:25859611A>G NA NA FAM182B (10825 upstream) : RP4-760C5.5 (76836 downstream) NA NA NA cacctggccaaattgctgcaa 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.25859611A>G NA hg19 0.02 -0.245552 CCAxATT COVERED NOVEL 0 8 2.708034 KEEP 1 0 0 9 283 AA 0.99254 0.636563 0 5 53 177 0 0 15.940187 10 60 277 53 0.333333 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 25893420 25893420 __UNKNOWN__ IGR SNP C C T rs76527991 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:25893420C>T NA NA FAM182B (44634 upstream) : RP4-760C5.5 (43027 downstream) NA NA NA ggccttgaacccctgtcctca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.25893420C>T NA hg19 0.02 -0.307032 AACxCCT COVERED NOVEL 0 11 2.708922 KEEP 4 0 0 9 324 CC 0.99254 0.794276 0 5 60 153 0 0 12.801512 15 60 514 71 0.25 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 25893447 25893447 __UNKNOWN__ IGR SNP T T C rs79211734 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:25893447T>C NA NA FAM182B (44661 upstream) : RP4-760C5.5 (43000 downstream) NA NA NA ccacccaccttggcctcccaa 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.25893447T>C NA hg19 0.02 -0.324259 CCTxGGC COVERED NOVEL 0 8 3.009403 KEEP 4 0 0 10 322 TT 0.992708 0.829622 0 3 40 95 0 0 7.129284 19 60 548 79 0.136364 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 25893459 25893459 __UNKNOWN__ IGR SNP G G T rs79624777 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:25893459G>T NA NA FAM182B (44673 upstream) : RP4-760C5.5 (42988 downstream) NA NA NA gcctcccaaagtgctgggatt 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.25893459G>T NA hg19 0.02 -0.315721 AAAxTGC COVERED NOVEL 0 8 3.009868 KEEP 7 0 0 10 360 GG 0.992708 0.812496 0 5 60 142 0 0 11.702742 15 60 495 84 0.25 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 25893481 25893481 __UNKNOWN__ IGR SNP C C A rs77265191 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:25893481C>A NA NA FAM182B (44695 upstream) : RP4-760C5.5 (42966 downstream) NA NA NA caggtgtgagccaccatgcct 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.25893481C>A NA hg19 0.02 -0.35027 GAGxCAC COVERED NOVEL 0 8 2.7088 KEEP 5 0 0 9 315 CC 0.99254 0.87116 0 6 60 178 0 0 15.064298 16 60 539 75 0.272727 0.877708 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26063805 26063805 __UNKNOWN__ RNA SNP A A G rs78113344 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:26063805A>G ENST00000376398.2 + 0 1322 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 TGCACCTGAGACCTGATGTCT 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26063805A>G NA A2RRD0|Q8N947 hg19 0.02 3.891287 GAGxCCT COVERED NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 1 14.577098 KEEP 4 1 33 60 1910 AA 1 0.999968 0 + 7 50 238 0 0 16.225521 90 60 2779 259 ENST00000376398.2 0.072165 0.999968 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26063993 26063993 __UNKNOWN__ RNA SNP A A G rs202066058 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:26063993A>G ENST00000376398.2 + 0 1510 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 CTGAGACTTGATGTTTAATAT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26063993A>G NA A2RRD0|Q8N947 hg19 0.02 1.608102 TTGxTGT COVERED NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 8 3.587291 KEEP 21 5 178 74 2357 AA 1 0.999804 0 + 6 49 201 0 0 14.194528 61 60 1795 287 ENST00000376398.2 0.089552 0.999804 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 26253994 26253994 __UNKNOWN__ IGR SNP A A G rs201345687 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:26253994A>G NA NA MIR663A (65080 upstream) : None (None downstream) NA NA NA caggagttcaagaccagcctg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.26253994A>G NA hg19 0.02 -0.254347 TCAxGAC COVERED NOVEL 0 9 2.40761 KEEP 3 0 0 8 263 AA 0.99257 0.663556 0 3 40 104 0 0 8.160789 17 60 508 58 0.15 0.668523 RP4-610C12.1 0 __UNKNOWN__ __UNKNOWN__ 20 29577398 29577398 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29577398A>G ENST00000432067.1 - 0 288 NA NA NA ctggtctcaaacttttggcct 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000432067.1: chr20.hg19:g.29577398A>G NA hg19 0.02 -0.394673 CAAxCTT COVERED NOVEL RP4-610C12.1-002 KNOWN basic antisense NA antisense OTTHUMT00000078489.3 14 2.407536 KEEP 2 0 0 8 261 AA 0.99257 0.919755 0 - 4 49 140 0 0 10.508226 31 60 910 85 ENST00000432067.1 0.114286 0.92664 RP4-610C12.1 0 __UNKNOWN__ __UNKNOWN__ 20 29577429 29577429 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29577429G>A ENST00000432067.1 - 0 288 NA NA NA tcccacctcaggctcccaaag 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000432067.1: chr20.hg19:g.29577429G>A NA hg19 0.02 -0.385995 TCAxGCT COVERED NOVEL RP4-610C12.1-002 KNOWN basic antisense NA antisense OTTHUMT00000078489.3 17 2.708933 KEEP 2 0 0 9 327 GG 0.99254 0.911321 0 - 4 58 123 0 1 8.809249 31 60 1063 81 ENST00000432067.1 0.114286 0.918171 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29612923 29612923 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29612923C>T ENST00000278882.3 + 1 257 FRG1B_ENST00000468180.2_3'UTR|FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000439954.2_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGCATTTCCTCCTGGCCTCCG 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.-124+810C>T chr20.hg19:g.29612923C>T NA C4AME5 hg19 0.02 9.30894 CCTxCTG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 21 36.263744 KEEP 243 7 233 202 7115 CC 1 1 0 + 24 60 732 0 0 53.543104 163 60 5451 1050 ENST00000278882.3 0.128342 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29622756 29622756 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29622756G>C ENST00000278882.3 + 3 320 FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000439954.2_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ctctttcacagctccccgagt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.-60-373G>C chr20.hg19:g.29622756G>C NA C4AME5 hg19 0.02 -0.228096 ACAxCTC COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 15 3.611917 KEEP 10 0 0 12 441 GG 0.992708 0.578679 0 + 3 50 106 0 0 8.509613 15 60 515 69 ENST00000278882.3 0.166667 0.58293 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29625873 29625873 __UNKNOWN__ Splice_Site SNP A A C rs78003242 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29625873A>C ENST00000278882.3 + 5 497 c.117A>C c.(115-117)agA>agC p.R39S FRG1B_ENST00000358464.4_Splice_Site_p.R39S|FRG1B_ENST00000439954.2_Splice_Site_p.R44S Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 39 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAATGTACAGAATCGCCCTGA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001630 splice_region_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.117-1A>C chr20.hg19:g.29625873A>C NA C4AME5 hg19 0.02 27.794625 CAGxATC COVERED . . . . . . . . . . a 10.74 1.435478 0.25813 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.47869 0.83 1.68 1.68 0.24146 . 0.000000 0.85682 D 0.000000 T 0.53738 0.1815 . . . 0.80722 D 1 P 0.44521 0.837 P 0.55749 0.783 T 0.50767 -0.8789 8 . . . . 7.3757 0.26827 1.0:0.0:0.0:0.0 . 44 F5H5R5 . S 39;44;39 ENSP00000408863:R44S . R + 3 2 FRG1B 28239534 1.000000 0.71417 0.938000 0.37757 0.022000 0.10575 1.633000 0.37113 1.028000 0.39785 0.155000 0.16302 AGA NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 56 8.741326 KEEP 28 46 1673 612 19981 AA 1 1 0 Missense_Mutation + 46 60 1549 0 0 110.521745 446 60 13357 1997 ENST00000278882.3 0.093496 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29625941 29625941 __UNKNOWN__ Missense_Mutation SNP A A T rs558255572 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 62 NA p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333 NA .||| 1 0.000199681 0 0.0014 5008 , , NA 30607 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 2 Substitution - Missense(2) urinary_tract(2) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.185A>T chr20.hg19:g.29625941A>T ENSP00000278882:p.Asp62Val NA C4AME5 hg19 0.02 10.3775 CAGxTGC COVERED . . . . . . . . . . a 11.46 1.644922 0.29246 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.55930 0.49 1.68 1.68 0.24146 . 0.000000 0.85682 U 0.000000 T 0.67316 0.2880 . . . 0.80722 D 1 D 0.76494 0.999 D 0.85130 0.997 T 0.68300 -0.5445 9 0.87932 D 0 . 7.3757 0.26827 1.0:0.0:0.0:0.0 . 67 F5H5R5 . V 62;67;62 ENSP00000408863:D67V ENSP00000278882:D62V D + 2 0 FRG1B 28239602 1.000000 0.71417 1.000000 0.80357 0.050000 0.14768 7.682000 0.84083 1.028000 0.39785 0.155000 0.16302 GAT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 8 82.936766 KEEP 37 9 298 380 11659 AA 1 1 0 + 11 30 336 0 0 18.652175 274 60 7893 914 ENST00000278882.3 0.038596 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628251 29628251 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 85 NA p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) kidney(2) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.253A>G chr20.hg19:g.29628251A>G ENSP00000278882:p.Asn85Asp NA C4AME5 hg19 0.02 23.847789 TCAxATA COVERED . . . . . . . . . . a 15.78 2.933773 0.52866 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.50277 0.75 2.08 2.08 0.27032 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.46619 0.1402 . . . 0.45390 D 0.998378 B;B 0.26809 0.086;0.16 B;B 0.40329 0.326;0.253 T 0.51553 -0.8691 9 0.66056 D 0.02 . 8.0833 0.30758 1.0:0.0:0.0:0.0 . 90;85 F5H5R5;Q9BZ01 .;FRG1B_HUMAN D 85;90;85 ENSP00000408863:N90D ENSP00000278882:N85D N + 1 0 FRG1B 28241912 1.000000 0.71417 1.000000 0.80357 0.799000 0.45148 8.047000 0.89440 1.208000 0.43306 0.347000 0.21830 AAT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 25 62.340094 KEEP 74 21 766 474 15437 AA 1 1 0 + 45 60 1522 0 0 107.764636 461 60 13630 1734 ENST00000278882.3 0.088933 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628263 29628263 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 89 NA p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) prostate(2)|kidney(2) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.265A>G chr20.hg19:g.29628263A>G ENSP00000278882:p.Ile89Val NA C4AME5 hg19 0.02 21.159797 TTTxTTA COVERED . . . . . . . . . . a 8.196 0.797144 0.16327 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.44482 0.92 2.08 2.08 0.27032 Actin cross-linking (1); 0.052017 0.85682 D 0.000000 T 0.22666 0.0547 . . . 0.33862 D 0.633895 B;B 0.06786 0.0;0.001 B;B 0.20767 0.018;0.031 T 0.12041 -1.0563 9 0.22706 T 0.39 . 3.8663 0.09018 0.8139:0.0:0.1861:0.0 . 94;89 F5H5R5;Q9BZ01 .;FRG1B_HUMAN V 89;94;89 ENSP00000408863:I94V ENSP00000278882:I89V I + 1 0 FRG1B 28241924 1.000000 0.71417 1.000000 0.80357 0.948000 0.59901 4.345000 0.59360 1.208000 0.43306 0.347000 0.21830 ATT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 26 87.211757 KEEP 76 16 541 479 14706 AA 1 1 0 + 23 60 768 0 0 48.050466 446 60 12553 1579 ENST00000278882.3 0.049041 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628334 29628334 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29628334A>G ENST00000278882.3 + 6 713 FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000439954.2_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATCAAGGTAATGATGCCAT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.333+3A>G chr20.hg19:g.29628334A>G NA C4AME5 hg19 0.02 6.92963 GGTxATG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 4 31.673592 KEEP 53 7 230 186 5374 AA 1 1 0 + 7 40 229 0 0 13.422636 172 60 4571 513 ENST00000278882.3 0.039106 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29630828 29630828 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29630828C>G ENST00000278882.3 + 7 713 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGGGACCCCTCTAATCAAAAC 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.334-710C>G chr20.hg19:g.29630828C>G NA C4AME5 hg19 0.02 1.765795 CCTxTAA COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 2 3.984428 KEEP 1 2 74 39 1338 CC 1 0.997163 0 + 4 57 133 0 0 8.800061 57 60 1893 114 ENST00000278882.3 0.065574 0.997163 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632559 29632559 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29632559T>C ENST00000278882.3 + 8 805 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAATAGTAAATATGTGTAATC 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.426-52T>C chr20.hg19:g.29632559T>C NA C4AME5 hg19 0.02 6.530229 AAAxATG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 2 22.079639 KEEP 74 7 227 153 4289 TT 1 1 0 + 9 27 279 0 0 16.422772 184 60 4776 443 ENST00000278882.3 0.046632 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632562 29632562 __UNKNOWN__ Intron SNP G G A rs73605274 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29632562G>A ENST00000278882.3 + 8 805 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGTAAATATGTGTAATCAGA 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.426-49G>A chr20.hg19:g.29632562G>A NA C4AME5 hg19 0.02 5.32772 TATxTGT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 3 11.140263 KEEP 76 12 355 162 5484 GG 1 1 0 + 17 42 453 0 0 27.694203 197 60 6345 489 ENST00000278882.3 0.079439 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632643 29632643 __UNKNOWN__ Missense_Mutation SNP T T C rs143379667 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29632643T>C ENST00000278882.3 + 8 838 c.458T>C c.(457-459)cTt>cCt p.L153P FRG1B_ENST00000358464.4_Missense_Mutation_p.L153P Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 153 NA p.L153P(10) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GACCACAAACTTAAAATAAGT 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10 Substitution - Missense(10) endometrium(6)|kidney(4) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.458T>C chr20.hg19:g.29632643T>C ENSP00000278882:p.Leu153Pro NA C4AME5 hg19 0.02 21.319943 AACxTAA COVERED . . . . . . . . . . t 12.77 2.038665 0.35989 . . ENSG00000149531 ENST00000278882;ENST00000358464 . . . 1.44 1.44 0.22558 . 0.000000 0.64402 U 0.000001 T 0.50463 0.1617 . . . 0.80722 D 1 P 0.35033 0.481 B 0.40038 0.317 T 0.53187 -0.8474 8 0.87932 D 0 . 6.9831 0.24713 0.0:0.0:0.0:1.0 . 153 Q9BZ01 FRG1B_HUMAN P 153 . ENSP00000278882:L153P L + 2 0 FRG1B 28246304 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 6.723000 0.74742 0.925000 0.37094 0.327000 0.21459 CTT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 29 3.26475 KEEP 157 38 1363 486 15842 TT 1 1 0 + 54 60 1846 0 0 135.812606 451 70 13596 1762 ENST00000278882.3 0.106931 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632664 29632664 __UNKNOWN__ Missense_Mutation SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29632664G>T ENST00000278882.3 + 8 859 c.479G>T c.(478-480)aGt>aTt p.S160I FRG1B_ENST00000358464.4_Missense_Mutation_p.S160I Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 160 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAAGAAGAGAGTAAAATTCTT 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.479G>T chr20.hg19:g.29632664G>T ENSP00000278882:p.Ser160Ile NA C4AME5 hg19 0.02 18.162452 AGAxTAA COVERED . . . . . . . . . . g 2.920 -0.223331 0.06061 . . ENSG00000149531 ENST00000278882;ENST00000358464 . . . 1.44 -0.673 0.11373 . 0.629622 0.15865 U 0.240820 T 0.16642 0.0400 . . . 0.09310 N 1 B 0.23249 0.082 B 0.24701 0.055 T 0.17592 -1.0364 8 0.19590 T 0.45 . 1.8931 0.03252 0.3573:0.0:0.373:0.2698 . 160 Q9BZ01 FRG1B_HUMAN I 160 . ENSP00000278882:S160I S + 2 0 FRG1B 28246325 0.994000 0.37717 0.981000 0.43875 0.941000 0.58515 1.335000 0.33839 -0.171000 0.10797 -0.551000 0.04211 AGT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 27 43.769207 KEEP 133 32 1023 504 18322 GG 1 1 0 + 18 60 528 0 0 27.670326 491 70 16986 1706 ENST00000278882.3 0.035363 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632680 29632680 __UNKNOWN__ Silent SNP G G A rs4892355 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29632680G>A ENST00000278882.3 + 8 875 c.495G>A c.(493-495)aaG>aaA p.K165K FRG1B_ENST00000358464.4_Silent_p.K165K Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 165 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTCTTAAAAAGGCTCAGAAAG 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.495G>A chr20.hg19:g.29632680G>A NA C4AME5 hg19 0.02 15.841059 AAAxGCT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 25 38.360107 KEEP 100 31 1003 479 17112 GG 1 1 0 + 25 49 736 0 0 43.912513 415 70 14039 1527 ENST00000278882.3 0.056818 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632772 29632772 __UNKNOWN__ Intron SNP G G A rs113430333 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29632772G>A ENST00000278882.3 + 8 916 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGAAATGGCATGTAGAAA 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.536+51G>A chr20.hg19:g.29632772G>A NA C4AME5 hg19 0.02 3.757929 ATGxCAT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 6 21.067984 KEEP 2 6 182 134 4583 GG 1 1 0 + 19 60 501 1 0 35.569613 113 60 3735 347 ENST00000278882.3 0.143939 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632782 29632782 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29632782A>T ENST00000278882.3 + 8 916 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCATGTAGAAAACCTATATTC 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.536+61A>T chr20.hg19:g.29632782A>T NA C4AME5 hg19 0.02 2.432778 GAAxACC COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 5 3.801581 KEEP 2 10 269 108 2920 AA 1 1 0 + 8 60 217 2 0 13.262862 97 60 2456 263 ENST00000278882.3 0.07619 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633816 29633816 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29633816G>A ENST00000278882.3 + 9 916 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAGTTTTAAAGCTTTTTATAT 0.244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.537-82G>A chr20.hg19:g.29633816G>A NA C4AME5 hg19 0.02 1.44481 AAAxCTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 3 2.999795 KEEP 4 3 85 40 1381 GG 1 0.963774 0 + 4 60 117 0 0 7.751785 41 60 1365 97 ENST00000278882.3 0.088889 0.963774 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633844 29633844 __UNKNOWN__ Intron SNP T T C rs181165047 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29633844T>C ENST00000278882.3 + 9 916 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAGTTGAATATATATGGCATG 0.254 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.537-54T>C chr20.hg19:g.29633844T>C NA C4AME5 hg19 0.02 4.012034 ATAxATA COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 6 6.384184 KEEP 6 5 162 78 2298 TT 1 0.999993 0 + 6 60 196 0 0 12.989622 81 60 2228 231 ENST00000278882.3 0.068966 0.999993 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633861 29633861 __UNKNOWN__ Intron SNP A A T rs80250025 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29633861A>T ENST00000278882.3 + 9 916 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CATGTTTTACATAGATTAATT 0.274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.537-37A>T chr20.hg19:g.29633861A>T NA C4AME5 hg19 0.02 4.253896 TACxTAG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 9 30.725091 KEEP 12 1 31 113 3554 AA 1 1 0 + 10 60 282 0 0 18.280239 104 60 3127 353 ENST00000278882.3 0.087719 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633915 29633915 __UNKNOWN__ 3'UTR SNP C C T rs78740969 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29633915C>T ENST00000278882.3 + 0 934 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGAAAGCCGACAGATACT 0.274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*5C>T chr20.hg19:g.29633915C>T NA C4AME5 hg19 0.02 8.586715 AGCxGAC COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 17 3.124298 KEEP 28 21 632 233 7890 CC 1 1 0 + 31 60 900 0 0 64.777203 208 61 6787 781 ENST00000278882.3 0.129707 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633945 29633945 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29633945G>A ENST00000278882.3 + 0 964 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGGAATTTTTGTTTCTGCCTT 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*35G>A chr20.hg19:g.29633945G>A NA C4AME5 hg19 0.02 11.888304 TTTxTTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 19 27.500623 KEEP 41 21 627 312 11015 GG 1 1 0 + 34 51 948 0 0 61.401949 345 60 11636 1127 ENST00000278882.3 0.08971 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633983 29633983 __UNKNOWN__ 3'UTR SNP A A G rs76742789 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29633983A>G ENST00000278882.3 + 0 1002 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTTCTGAATAAAATATTCAG 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*73A>G chr20.hg19:g.29633983A>G NA C4AME5 hg19 0.02 21.52002 AATxAAA COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 17 33.617593 KEEP 41 21 734 368 11176 AA 1 1 0 + 25 60 840 1 0 52.725767 481 70 13457 1396 ENST00000278882.3 0.049407 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633987 29633987 __UNKNOWN__ 3'UTR SNP T T A rs4006817 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29633987T>A ENST00000278882.3 + 0 1006 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CTGAATAAAATATTCAGAGGA 0.308 NA .||| 743 0.148363 0.0446 0.1657 5008 , , NA 33780 0.1984 NA 0.166 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*77T>A chr20.hg19:g.29633987T>A NA C4AME5 hg19 0.02 16.883035 AAAxATT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 16 3.26773 KEEP 39 32 1021 369 11216 TT 1 1 0 + 38 60 1095 0 0 68.084254 500 70 14302 1463 ENST00000278882.3 0.070632 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633992 29633992 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29633992A>G ENST00000278882.3 + 0 1011 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAAATATTCAGAGGAAATGC 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*82A>G chr20.hg19:g.29633992A>G NA C4AME5 hg19 0.02 21.461118 TTCxGAG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 15 73.076274 KEEP 40 13 447 399 12629 AA 1 1 0 + 18 60 570 0 0 31.156761 543 70 16553 1554 ENST00000278882.3 0.032086 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29634002 29634002 __UNKNOWN__ 3'UTR SNP C C A rs371593782 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29634002C>A ENST00000278882.3 + 0 1021 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAGGAAATGCTTTTACAGAG 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*92C>A chr20.hg19:g.29634002C>A NA C4AME5 hg19 0.02 17.164504 ATGxTTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 19 63.67087 KEEP 41 18 556 407 14920 CC 1 1 0 + 33 60 950 1 0 55.573727 558 70 19356 1606 ENST00000278882.3 0.055838 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29642079 29642079 __UNKNOWN__ IGR SNP A A T rs112071318 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29642079A>T NA NA AL441988.1 (4779 upstream) : DEFB115 (203387 downstream) NA NA NA gtgaaacctcatctctactaa 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29642079A>T NA hg19 0.02 -0.315574 CTCxTCT COVERED NOVEL 0 4 3.008696 KEEP 2 0 0 10 304 AG 0.993072 0.812795 0 3 45 87 0 0 6.873786 12 60 302 59 0.2 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29645479 29645479 __UNKNOWN__ IGR SNP G G A rs73610054 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29645479G>A NA NA AL441988.1 (8179 upstream) : DEFB115 (199987 downstream) NA NA NA atgctggcaagactgtggaga 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29645479G>A NA hg19 0.02 4.615858 CAAxACT COVERED NOVEL 0 46 2.913343 KEEP 7 3 101 45 1573 GG 1 1 0 15 60 446 0 0 31.685384 113 60 3779 337 0.117187 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29646338 29646338 __UNKNOWN__ IGR SNP T T A rs2379654 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29646338T>A NA NA AL441988.1 (9038 upstream) : DEFB115 (199128 downstream) NA NA NA tcatgagaactctatcacaag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29646338T>A NA hg19 0.02 2.828405 AACxCTA COVERED NOVEL 0 15 2.675201 KEEP 0 2 57 29 923 TT 0.999997 0.999989 0 12 60 334 2 0 26.092681 48 60 1447 213 0.2 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29648721 29648721 __UNKNOWN__ IGR SNP C C T rs140755767 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29648721C>T NA NA AL441988.1 (11421 upstream) : DEFB115 (196745 downstream) NA NA NA tcaagcaatcctcctgcctcg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29648721C>T NA hg19 0.02 9.326901 ATCxTCC COVERED NOVEL 0 98 5.329367 KEEP 6 6 195 86 3126 CC 1 1 0 13 60 407 0 0 27.598672 140 60 4781 598 0.084967 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29652146 29652146 __UNKNOWN__ IGR SNP C C T rs71273513|rs141460148 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29652146C>T NA NA AL441988.1 (14846 upstream) : DEFB115 (193320 downstream) NA NA NA agcctgccttcatctctgaag 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29652146C>T NA hg19 0.02 16.961714 CTTxATC COVERED NOVEL 0 25 4.777745 KEEP 1 25 757 282 9902 CC 1 1 0 20 60 577 0 0 35.932072 262 60 8663 1439 0.070922 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29874161 29874161 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:29874161G>T NA NA DEFB115 (26726 upstream) : DEFB116 (16853 downstream) NA NA NA TGGTAGAACTGCTCCCCCATC 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29874161G>T NA hg19 0.02 -0.368401 ACTxCTC COVERED NOVEL 0 0 4.81546 KEEP 0 0 0 16 563 GG 0.997832 0.897364 0 12 60 353 0 0 30.112764 30 60 1021 85 0.285714 0.899314 PLAGL2 5326 __UNKNOWN__ __UNKNOWN__ 20 30783130 30783130 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:30783130C>T ENST00000246229.4 - 0 2880 NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 NA NA chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ATGAGGGGCTCAGACTTCCTC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(163;15 1893 11280 16306 47518) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13197.1 20q11.21 2013-01-08 ENSG00000126003 ENSG00000126003 5326 Zinc fingers, C2H2-type 9047 protein-coding gene gene with protein product C2H2-type zinc finger protein 604866 NA 15585652, 17950244 Standard NM_002657 NM_002657 NA Approved ZNF900 uc002wxn.2 Q9UPG8 OTTHUMG00000032210 ENST00000246229.4:c.*1125G>A chr20.hg19:g.30783130C>T NA A8K8T5|E1P5M3|Q92584 hg19 CCDS13197.1 0.02 2.85472 GCTxAGA COVERED NOVEL PLAGL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078615.2 3 15.650876 KEEP 0 0 0 52 1849 CC 1 0.999987 0 - 38 60 1046 0 0 93.672987 63 60 2068 225 ENST00000246229.4 0.376238 0.999987 POFUT1 23509 __UNKNOWN__ __UNKNOWN__ 20 30825933 30825933 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:30825933T>C ENST00000375749.3 + 0 4698 NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 NA NA angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) tggtggctcatgcctgtaatc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF375884 CCDS13198.1, CCDS13199.1 20q11 2013-03-06 ENSG00000101346 ENSG00000101346 23509 2.4.1.221 Fucosyltransferases 14988 protein-coding gene gene with protein product peptide-O-fucosyltransferase, GDP-fucose protein O-fucosyltransferase 1 607491 NA 9023546, 9525914 Standard NM_015352 NM_015352 NA Approved O-FUT, O-Fuc-T, KIAA0180, FUT12 uc002wxp.3 Q9H488 OTTHUMG00000133268 ENST00000375749.3:c.*3469T>C chr20.hg19:g.30825933T>C NA A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76 hg19 CCDS13198.1 0.02 3.514319 TCAxGCC COVERED NOVEL POFUT1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078613.1 21 11.405918 KEEP 1 2 75 64 2010 TT 1 1 0 + 6 60 194 2 1 11.67352 126 60 3756 286 ENST00000375749.3 0.045455 1 POFUT1 23509 __UNKNOWN__ __UNKNOWN__ 20 30826066 30826066 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:30826066G>C ENST00000375749.3 + 0 4831 NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 NA NA angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) agccaggcgtggtggcacatg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF375884 CCDS13198.1, CCDS13199.1 20q11 2013-03-06 ENSG00000101346 ENSG00000101346 23509 2.4.1.221 Fucosyltransferases 14988 protein-coding gene gene with protein product peptide-O-fucosyltransferase, GDP-fucose protein O-fucosyltransferase 1 607491 NA 9023546, 9525914 Standard NM_015352 NM_015352 NA Approved O-FUT, O-Fuc-T, KIAA0180, FUT12 uc002wxp.3 Q9H488 OTTHUMG00000133268 ENST00000375749.3:c.*3602G>C chr20.hg19:g.30826066G>C NA A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76 hg19 CCDS13198.1 0.02 -0.166655 CGTxGTG COVERED NOVEL POFUT1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078613.1 4 3.310299 KEEP 0 0 0 11 372 GG 0.993072 0.351495 0 + 7 60 214 0 0 19.308701 12 60 388 31 ENST00000375749.3 0.368421 0.353947 KIF3B 9371 __UNKNOWN__ __UNKNOWN__ 20 30921185 30921185 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:30921185T>C ENST00000375712.3 + 0 4474 NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B NA NA anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307) centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048) NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) cctgtaatcctagcactttgg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002357 CCDS13200.1 20q11.21 2012-08-01 ENSG00000101350 ENSG00000101350 9371 Kinesins 6320 protein-coding gene gene with protein product 603754 NA 9205841 Standard NM_004798 NM_004798 NA Approved KIAA0359, FLA8, KLP-11 uc002wxq.3 O15066 OTTHUMG00000032214 ENST00000375712.3:c.*2063T>C chr20.hg19:g.30921185T>C NA B2RMP4|B4DSR5|E1P5M5 hg19 CCDS13200.1 0.02 -0.175383 TCCxAGC COVERED NOVEL KIF3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078619.1 6 2.708282 KEEP 0 0 0 9 281 TT 0.99254 0.384517 0 + 3 60 102 0 0 8.033474 16 60 459 35 ENST00000375712.3 0.157895 0.387407 MAPRE1 22919 __UNKNOWN__ __UNKNOWN__ 20 31413582 31413582 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:31413582T>C ENST00000375571.5 + 2 136 NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 NA NA cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372) cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371) microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 ggcgacagagtgagactctgt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U24166 CCDS13208.1 20q11.1-q11.3 2013-01-17 ENSG00000101367 ENSG00000101367 22919 6890 protein-coding gene gene with protein product adenomatous polyposis coli-binding protein EB1 603108 NA 7606712, 9724749, 11470413 Standard NM_012325 NM_012325 NA Approved EB1 uc002wyh.3 Q15691 OTTHUMG00000032228 ENST00000375571.5:c.-3-149T>C chr20.hg19:g.31413582T>C NA B2R6I7|E1P5M8|Q3KQS8 hg19 CCDS13208.1 0.02 1.906604 GAGxGAG COVERED NOVEL MAPRE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078647.2 8 3.772029 KEEP 1 2 70 37 1024 TT 1 0.979526 0 + 4 60 135 1 0 9.254306 49 60 1275 105 ENST00000375571.5 0.075472 0.979526 BPIFB4 149954 __UNKNOWN__ __UNKNOWN__ 20 31695429 31695429 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:31695429G>A ENST00000375483.3 + 15 1744 BPIFB4_ENST00000494121.1_Intron NM_182519.2 NP_872325.2 P59827 BPIB4_HUMAN BPI fold containing family B, member 4 NA NA cytoplasm (GO:0005737)|extracellular region (GO:0005576) lipid binding (GO:0008289) NA gcaacagagcgagactctgtc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF549190 CCDS13213.2 20q11.21 2011-08-04 2011-07-29 2011-07-29 ENSG00000186191 ENSG00000186191 149954 BPI fold containing 16179 protein-coding gene gene with protein product 615718 chromosome 20 open reading frame 186 C20orf186 NA 11971875, 21787333 Standard NM_182519 NM_182519 NA Approved dJ726C3.5, LPLUNC4 uc010zue.2 P59827 OTTHUMG00000032235 ENST00000375483.3:c.1745-121G>A chr20.hg19:g.31695429G>A NA Q5TDX6 hg19 CCDS13213.2 0.02 2.806888 AGCxAGA COVERED NOVEL BPIFB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078655.5 14 7.386694 KEEP 2 2 64 47 1512 GG 1 1 0 + 6 60 180 1 1 10.864233 100 60 3198 247 ENST00000375483.3 0.056604 1 ZNF341 84905 __UNKNOWN__ __UNKNOWN__ 20 32325990 32325990 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:32325990T>A ENST00000342427.2 + 2 396 ZNF341_ENST00000375200.1_Intron NM_032819.3 NP_116208.3 Q9BYN7 ZN341_HUMAN zinc finger protein 341 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 catgcctgtattcccagcact 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027550 CCDS13227.1, CCDS74719.1 20q11.22 2013-01-08 ENSG00000131061 ENSG00000131061 84905 Zinc fingers, C2H2-type 15992 protein-coding gene gene with protein product NA Standard NM_001282933 NA Approved dJ553F4.3 uc002wzx.3 Q9BYN7 OTTHUMG00000032275 ENST00000342427.2:c.32-2718T>A chr20.hg19:g.32325990T>A NA A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5 hg19 CCDS13227.1 0.02 -0.245539 GTAxTCC COVERED NOVEL ZNF341-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078741.2 4 2.407447 KEEP 1 0 0 8 260 TT 0.99257 0.636582 0 + 3 60 89 0 0 6.406876 21 60 616 52 ENST00000342427.2 0.125 0.641347 ASIP 434 __UNKNOWN__ __UNKNOWN__ 20 32833475 32833475 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:32833475G>A ENST00000568305.1 + 2 192 RP4-785G19.5_ENST00000512005.1_RNA P42127 ASIP_HUMAN agouti signaling protein NA NA adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|generation of precursor metabolites and energy (GO:0006091)|genetic imprinting (GO:0071514)|hormone-mediated signaling pathway (GO:0009755)|melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|regulation of molecular function, epigenetic (GO:0040030)|signal transduction (GO:0007165) extracellular space (GO:0005615) receptor binding (GO:0005102) central_nervous_system(1)|lung(2) 3 gattacaggcgtgagccacca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13232.1 20q11.2-q12 2010-06-24 2010-06-24 ENSG00000101440 ENSG00000101440 434 745 protein-coding gene gene with protein product nonagouti homolog (mouse) 600201 agouti (mouse)-signaling protein, agouti signaling protein, nonagouti homolog (mouse) AGTIL NA 7937887, 7757071 Standard NM_001672 NA Approved ASP uc002xah.1 P42127 OTTHUMG00000032289 ENST00000568305.1:c.-10-14696G>A chr20.hg19:g.32833475G>A NA Q3SXL2 hg19 CCDS13232.1 0.02 1.227989 GGCxTGA COVERED NOVEL ASIP-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430541.1 11 6.386026 KEEP 1 2 62 43 1363 GG 1 0.999804 0 + 5 60 152 1 0 9.41652 77 60 2489 174 ENST00000568305.1 0.060976 0.999804 ITCH 83737 __UNKNOWN__ __UNKNOWN__ 20 33001826 33001826 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:33001826C>G ENST00000374864.4 + 6 688 ITCH_ENST00000535650.1_Intron|ITCH_ENST00000262650.6_Intron NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase NA NA apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 gctcacgcctctaatcccagc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF095745 CCDS13234.1, CCDS58768.1, CCDS58769.1 20q11.22 2014-09-17 2012-02-23 ENSG00000078747 ENSG00000078747 83737 13890 protein-coding gene gene with protein product 606409 itchy (mouse homolog) E3 ubiquitin protein ligase, itchy E3 ubiquitin protein ligase homolog (mouse) NA 11318614 Standard NM_001257137 NA Approved AIP4 uc010geu.2 Q96J02 OTTHUMG00000032300 ENST00000374864.4:c.475+141C>G chr20.hg19:g.33001826C>G NA A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5 hg19 CCDS13234.1 0.02 -0.175447 CCTxTAA COVERED NOVEL ITCH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078782.1 3 2.708485 KEEP 0 0 0 9 309 CC 0.99254 0.384517 0 + 3 60 103 0 0 8.378576 13 60 421 37 ENST00000374864.4 0.1875 0.387407 ITCH 83737 __UNKNOWN__ __UNKNOWN__ 20 33080459 33080459 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:33080459G>A ENST00000374864.4 + 23 2629 ITCH_ENST00000535650.1_Intron|ITCH_ENST00000262650.6_Intron NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase NA NA apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 GCTGCTTTACGTAAATGTGTA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF095745 CCDS13234.1, CCDS58768.1, CCDS58769.1 20q11.22 2014-09-17 2012-02-23 ENSG00000078747 ENSG00000078747 83737 13890 protein-coding gene gene with protein product 606409 itchy (mouse homolog) E3 ubiquitin protein ligase, itchy E3 ubiquitin protein ligase homolog (mouse) NA 11318614 Standard NM_001257137 NA Approved AIP4 uc010geu.2 Q96J02 OTTHUMG00000032300 ENST00000374864.4:c.2416+57G>A chr20.hg19:g.33080459G>A NA A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5 hg19 CCDS13234.1 0.02 -0.358291 TACxTAA COVERED NOVEL ITCH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078782.1 1 9.018954 KEEP 0 0 0 30 998 GG 0.999997 0.888873 0 + 4 60 117 0 0 7.928037 37 60 1194 86 ENST00000374864.4 0.097561 0.888875 PIGU 128869 __UNKNOWN__ __UNKNOWN__ 20 33190150 33190150 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:33190150T>C ENST00000480175.1 - 2 89 PIGU_ENST00000452740.2_Intron|PIGU_ENST00000374820.2_Intron Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U NA NA attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425) endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 tctgtaatcctagcactttgg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL118520 CCDS13239.1 20q11.22 2013-02-26 2006-11-07 2006-11-07 ENSG00000101464 ENSG00000101464 128869 Phosphatidylinositol glycan anchor biosynthesis 15791 protein-coding gene gene with protein product GPI transamidase subunit 608528 CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1, CDC91 cell division cycle 91-like 1 (S. cerevisiae) CDC91L1 NA 12802054, 15034568 Standard NM_080476 NM_080476 NA Approved bA346K17.2, GAB1 uc002xas.3 Q9H490 OTTHUMG00000032304 ENST00000480175.1:c.656-13739A>G chr20.hg19:g.33190150T>C NA Q7Z489|Q8N2F2 hg19 0.02 -0.236727 TCCxAGC COVERED NOVEL PIGU-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000078796.1 5 2.407439 KEEP 0 0 0 8 254 TT 0.99257 0.607857 0 - 3 60 96 0 0 7.049597 22 60 625 49 ENST00000480175.1 0.12 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 33269825 33269825 __UNKNOWN__ IGR SNP T T C rs530092039 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:33269825T>C NA NA PIGU (4915 upstream) : NCOA6 (15119 downstream) NA NA NA ggcacagtggttcacacctgt 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.33269825T>C NA hg19 0.02 -0.438413 TGGxTCA COVERED NOVEL 0 9 3.608979 KEEP 0 0 0 12 380 TT 0.993634 0.953748 0 3 60 109 0 1 7.607999 40 60 1157 83 0.069767 0.959859 MYH7B 57644 __UNKNOWN__ __UNKNOWN__ 20 33563288 33563288 __UNKNOWN__ 5'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:33563288A>G ENST00000262873.7 + 0 83 NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta NA NA membrane (GO:0016020)|myosin filament (GO:0032982) ATP binding (GO:0005524)|motor activity (GO:0003774) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) aaagtgctggaattacagaca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 93 103 99 NA NA NA 20 NA NA 33563288 1014 2124 3138 SO:0001623 5_prime_UTR_variant AB040945 CCDS42869.1 20q11 2011-09-27 2006-09-29 ENSG00000078814 ENSG00000078814 57644 Myosins / Myosin superfamily : Class II 15906 protein-coding gene gene with protein product 609928 myosin, heavy polypeptide 7B, cardiac muscle, beta NA 11919279, 15014174 Standard NM_020884 XM_006723839 NA Approved KIAA1512, dJ756N5.1, MYH14, MHC14 uc002xbi.2 A7E2Y1 OTTHUMG00000032320 ENST00000262873.7:c.-10A>G chr20.hg19:g.33563288A>G NA Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216 hg19 CCDS42869.1 0.02 5.417388 TGGxATT COVERED NOVEL MYH7B-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000078833.2 42 20.578405 KEEP 0 1 36 81 2591 AA 1 1 0 + 8 60 269 0 0 16.635108 166 60 4914 390 ENST00000262873.7 0.045977 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 34153528 34153528 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:34153528A>G NA NA ERGIC3 (8123 upstream) : FER1L4 (16512 downstream) NA NA NA agtggctcacacctgtaatcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.34153528A>G NA hg19 0.02 -0.385646 CACxCCT COVERED NOVEL 0 14 3.309977 KEEP 2 0 0 11 343 AA 0.993072 0.91181 0 4 60 136 0 0 10.109994 31 60 873 85 0.114286 0.918171 RBM39 9584 __UNKNOWN__ __UNKNOWN__ 20 34329038 34329038 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:34329038G>C ENST00000361162.6 - 2 372 RBM39_ENST00000528062.3_Intron|RBM39_ENST00000397370.3_Intron|RBM39_ENST00000407261.4_Intron|RBM39_ENST00000253363.6_Intron|RBM39_ENST00000463098.1_Intron NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 NA NA mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) ctcactgcaagctccgcctcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L10910 CCDS13265.1, CCDS13266.1, CCDS56186.1 20q11.22 2014-07-03 2006-07-11 2006-07-11 ENSG00000131051 ENSG00000131051 9584 RNA binding motif (RRM) containing 15923 protein-coding gene gene with protein product coactivator of activating protein-1 and estrogen receptors, functional spliceosome-associated protein 59 604739 RNA-binding region (RNP1, RRM) containing 2 RNPC2 NA 8227358, 15694343, 21551269 Standard NM_184237 NM_184234 NA Approved CC1.3, HCC1, CAPER, fSAP59, CAPERalpha uc002xeb.3 Q14498 OTTHUMG00000032358 ENST00000361162.6:c.13-229C>G chr20.hg19:g.34329038G>C NA A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499 hg19 CCDS13265.1 0.02 -0.209133 CAAxCTC COVERED NOVEL RBM39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078930.2 2 9.027542 KEEP 0 0 0 30 1025 GG 0.999997 0.52216 0 - 3 60 102 0 0 7.902867 18 60 557 56 ENST00000361162.6 0.142857 0.522161 PHF20 51230 __UNKNOWN__ __UNKNOWN__ 20 34537948 34537948 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:34537948T>C ENST00000374012.3 + 0 5567 PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 NA NA chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) gcactccagctcgggcgacaa 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL109965 CCDS13268.1 20q11.22-q11.23 2013-01-28 2004-12-01 2004-12-01 ENSG00000025293 ENSG00000025293 51230 Tudor domain containing, Zinc fingers, PHD-type 16098 protein-coding gene gene with protein product tudor domain containing 20A 610335 chromosome 20 open reading frame 104 C20orf104 NA Standard NM_016436 NM_016436 NA Approved dJ1121G12.1, TDRD20A uc002xek.1 Q9BVI0 OTTHUMG00000032367 ENST00000374012.3:c.*2399T>C chr20.hg19:g.34537948T>C NA A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22 hg19 CCDS13268.1 0.02 -0.342028 AGCxCGG COVERED NOVEL PHF20-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078949.2 2 9.328256 KEEP 0 0 0 31 973 TT 0.999997 0.865743 0 + 3 60 101 0 0 7.012623 34 60 1002 88 ENST00000374012.3 0.081081 0.865745 NDRG3 57446 __UNKNOWN__ __UNKNOWN__ 20 35308177 35308177 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:35308177A>G ENST00000349004.1 - 8 613 NDRG3_ENST00000359675.2_Intron|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000540765.1_Intron|NDRG3_ENST00000373803.2_Intron NM_032013.3 NP_114402.1 Q9UGV2 NDRG3_HUMAN NDRG family member 3 NA NA cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) aaagtgctggaattacaggcg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL031662 CCDS13284.1, CCDS13285.1 20q11.21-q11.23 2008-07-28 ENSG00000101079 ENSG00000101079 57446 14462 protein-coding gene gene with protein product 605273 NA 10831399, 17998568 Standard NM_032013 NA Approved uc002xfw.3 Q9UGV2 OTTHUMG00000032398 ENST00000349004.1:c.531+1041T>C chr20.hg19:g.35308177A>G NA A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6 hg19 CCDS13285.1 0.02 -0.236789 TGGxATT COVERED NOVEL NDRG3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079053.2 5 3.91193 KEEP 0 0 0 13 415 AA 0.994391 0.608972 0 - 3 60 102 0 0 8.033519 16 60 453 61 ENST00000349004.1 0.157895 0.612407 DSN1 79980 __UNKNOWN__ __UNKNOWN__ 20 35380720 35380720 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:35380720A>G ENST00000426836.1 - 0 1914 DSN1_ENST00000373740.3_3'UTR|DSN1_ENST00000373745.3_3'UTR|DSN1_ENST00000448110.2_3'UTR|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_3'UTR|DSN1_ENST00000373734.4_3'UTR NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component NA NA chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) gtcacccaaaatgctaggatt 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023408 CCDS13286.1, CCDS46596.1, CCDS46597.1 20q11.23 2013-07-03 2013-07-03 2006-11-07 ENSG00000149636 ENSG00000149636 79980 16165 protein-coding gene gene with protein product kinetochore null 3 homolog (C. elegans) 609175 chromosome 20 open reading frame 172, DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) C20orf172 NA 16585270, 20819937 Standard NM_024918 NM_001145315 NA Approved dJ469A13.2, MIS13, KNL3, hKNL-3 uc002xfz.3 Q9H410 OTTHUMG00000032396 ENST00000426836.1:c.*471T>C chr20.hg19:g.35380720A>G NA B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4 hg19 CCDS13286.1 0.02 1.637613 AAAxTGC COVERED NOVEL DSN1-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079043.2 12 8.726043 KEEP 0 0 0 29 913 AA 0.999997 0.999937 0 - 4 60 139 0 0 8.807718 81 70 2328 174 ENST00000426836.1 0.047059 0.99994 DSN1 79980 __UNKNOWN__ __UNKNOWN__ 20 35380725 35380725 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:35380725A>G ENST00000426836.1 - 0 1909 DSN1_ENST00000373740.3_3'UTR|DSN1_ENST00000373745.3_3'UTR|DSN1_ENST00000448110.2_3'UTR|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_3'UTR|DSN1_ENST00000373734.4_3'UTR NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component NA NA chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) ccaaaatgctaggattacagg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023408 CCDS13286.1, CCDS46596.1, CCDS46597.1 20q11.23 2013-07-03 2013-07-03 2006-11-07 ENSG00000149636 ENSG00000149636 79980 16165 protein-coding gene gene with protein product kinetochore null 3 homolog (C. elegans) 609175 chromosome 20 open reading frame 172, DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) C20orf172 NA 16585270, 20819937 Standard NM_024918 NM_001145315 NA Approved dJ469A13.2, MIS13, KNL3, hKNL-3 uc002xfz.3 Q9H410 OTTHUMG00000032396 ENST00000426836.1:c.*466T>C chr20.hg19:g.35380725A>G NA B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4 hg19 CCDS13286.1 0.02 1.511672 GCTxGGA COVERED NOVEL DSN1-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079043.2 11 8.725824 KEEP 0 0 0 29 894 AA 0.999997 0.99996 0 - 4 60 133 0 0 8.230891 80 60 2274 172 ENST00000426836.1 0.047619 0.999962 RBL1 5933 __UNKNOWN__ __UNKNOWN__ 20 35665253 35665253 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:35665253C>T ENST00000373664.3 - 15 1970 RBL1_ENST00000344359.3_Intron NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 NA NA chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) transcription factor binding (GO:0008134) NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) tggtctcgatctcctgacctc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L14812 CCDS13289.1, CCDS13290.1 20q11.23 2014-03-11 2014-03-11 ENSG00000080839 ENSG00000080839 5933 9893 protein-coding gene gene with protein product 116957 NA 1833063 Standard NM_002895 NM_183404 NA Approved p107, cp107, PRB1 uc002xgi.3 P28749 OTTHUMG00000032406 ENST00000373664.3:c.1904-1342G>A chr20.hg19:g.35665253C>T NA A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1 hg19 CCDS13289.1 0.02 -0.166654 GATxTCC UNCOVERED NOVEL RBL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079067.2 4 2.706956 KEEP 14 0 0 9 297 CC 0 0 0 - 4 28 119 1 0 9.780912 13 60 435 58 ENST00000373664.3 0.235294 0.353947 CTNNBL1 56259 __UNKNOWN__ __UNKNOWN__ 20 36327273 36327273 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:36327273A>C ENST00000361383.6 + 1 147 CTNNBL1_ENST00000405275.2_Intron NM_030877.3 NP_110517.2 Q8WYA6 CTBL1_HUMAN catenin, beta like 1 NA NA apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681) enzyme binding (GO:0019899) autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) catggtgaaaacctgtctcta 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(184;582 2038 3273 4106 42608) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL023804 CCDS13298.1 20q11.23-q12 2011-06-03 2002-05-27 2002-05-31 ENSG00000132792 ENSG00000132792 56259 15879 protein-coding gene gene with protein product nuclear associated protein 611537 chromosome 20 open reading frame 33 C20orf33 NA 12659813, 21385873 Standard NM_030877 NM_030877 NA Approved FLJ21108, P14L, P14, NAP, NYD-SP19 uc021wdj.1 Q8WYA6 OTTHUMG00000032428 ENST00000361383.6:c.30+4719A>C chr20.hg19:g.36327273A>C NA B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7 hg19 CCDS13298.1 0.02 -0.200173 AAAxCCT COVERED NOVEL CTNNBL1-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079125.1 3 2.407325 KEEP 0 0 0 8 251 AA 0.99257 0.4869 0 + 4 60 98 0 0 7.159967 19 60 538 41 ENST00000361383.6 0.173913 0.490544 VSTM2L 128434 __UNKNOWN__ __UNKNOWN__ 20 36531938 36531938 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:36531938A>G ENST00000373461.4 + 1 368 VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Intron NM_080607.2 NP_542174.1 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like NA NA central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) CGCCACTCCAACTTGGCCGCC 0.776 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL109964 CCDS13299.1 20q11.23 2013-01-11 2007-08-10 2007-08-10 ENSG00000132821 ENSG00000132821 128434 Immunoglobulin superfamily / V-set domain containing 16096 protein-coding gene gene with protein product chromosome 20 open reading frame 102 C20orf102 NA Standard NM_080607 NA Approved dJ1118M15.2 uc002xhk.4 Q96N03 OTTHUMG00000032430 ENST00000373461.4:c.121+65A>G chr20.hg19:g.36531938A>G NA E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37 hg19 CCDS13299.1 0.02 -0.288106 CCAxCTT COVERED NOVEL VSTM2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079133.1 0 5.708743 KEEP 0 0 0 19 499 AA 0.99986 0.76078 0 + 12 60 379 0 0 34.194385 21 60 526 58 ENST00000373461.4 0.363636 0.760887 DHX35 60625 __UNKNOWN__ __UNKNOWN__ 20 37652221 37652221 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:37652221T>C ENST00000252011.3 + 17 1626 DHX35_ENST00000373325.2_Intron|DHX35_ENST00000373323.4_Intron NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 NA NA mRNA splicing, via spliceosome (GO:0000398) catalytic step 2 spliceosome (GO:0071013) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) gtctcgaacttctgggttcag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026412 CCDS13310.1, CCDS54463.1 20q11.22-q12 2003-06-13 2003-06-13 2003-06-13 ENSG00000101452 ENSG00000101452 60625 DEAH-boxes 15861 protein-coding gene gene with protein product DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35 C20orf15, DDX35 NA Standard NM_021931 NM_001190809 NA Approved FLJ22759, KAIA0875 uc002xjh.3 Q9H5Z1 OTTHUMG00000032463 ENST00000252011.3:c.1594-112T>C chr20.hg19:g.37652221T>C NA A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6 hg19 CCDS13310.1 0.02 -0.140296 ACTxCTG COVERED NOVEL DHX35-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079212.2 3 2.404506 KEEP 0 0 0 8 217 TT 0.99257 0.259026 0 + 3 60 91 0 0 7.482598 10 60 283 29 ENST00000252011.3 0.230769 0.260965 ZHX3 23051 __UNKNOWN__ __UNKNOWN__ 20 39808298 39808298 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:39808298T>C ENST00000309060.3 - 0 8819 ZHX3_ENST00000540170.1_3'UTR|PLCG1_ENST00000608689.1_Intron Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 NA NA cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) gagacggagtttcgctctgtc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007855 CCDS13315.1 20q12 2012-03-09 2004-01-29 2004-01-30 ENSG00000174306 ENSG00000174306 23051 Zinc fingers, C2H2-type, Homeoboxes / ZF class 15935 protein-coding gene gene with protein product 609598 triple homeobox 1 TIX1 NA 9455477 Standard NM_015035 XM_005260343 NA Approved KIAA0395 uc002xjs.1 Q9H4I2 OTTHUMG00000032481 ENST00000309060.3:c.*5533A>G chr20.hg19:g.39808298T>C NA E1P5W5|F5H820|O43145|Q6NUJ7 hg19 CCDS13315.1 0.02 -0.217833 AGTxTCG COVERED NOVEL ZHX3-010 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079262.3 5 3.009467 KEEP 2 0 0 10 328 TT 0.992708 0.578679 0 - 4 60 136 0 0 11.085273 17 60 448 45 ENST00000309060.3 0.190476 0.58293 CHD6 84181 __UNKNOWN__ __UNKNOWN__ 20 40234830 40234830 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:40234830T>C ENST00000373233.3 - 1 155 CHD6_ENST00000373222.3_Intron|CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 NA NA ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) gcctggccaatatggtgaaac 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF525085 CCDS13317.1 20q12 2003-03-07 ENSG00000124177 ENSG00000124177 84181 19057 protein-coding gene gene with protein product NA 11889561 Standard NM_032221 NA Approved KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB uc002xka.1 Q8TD26 OTTHUMG00000032487 ENST00000373233.3:c.22+12148A>G chr20.hg19:g.40234830T>C NA Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1 hg19 CCDS13317.1 0.02 -0.219234 CAAxATG COVERED NOVEL CHD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079270.1 3 2.706788 KEEP 0 0 0 9 258 TT 0.99254 0.548763 0 - 3 60 104 0 0 7.964893 20 60 560 50 ENST00000373233.3 0.130435 0.552887 FITM2 128486 __UNKNOWN__ __UNKNOWN__ 20 42934403 42934403 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:42934403G>A ENST00000396825.3 - 0 1671 NM_001080472.1 NP_001073941.1 Q8N6M3 FITM2_HUMAN fat storage-inducing transmembrane protein 2 NA NA cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739) endometrium(2)|lung(2)|skin(2) 6 tggaggttgcggtgagccgag 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC029662 CCDS33473.1 20q13.12 2009-04-29 2009-04-29 2009-04-29 ENSG00000197296 ENSG00000197296 128486 16135 protein-coding gene gene with protein product fat inducing transcript 2 612029 chromosome 20 open reading frame 142 C20orf142 NA 18160536 Standard XM_371399 NM_001080472 NA Approved dJ881L22.2, FIT2 uc002xlr.1 Q8N6M3 OTTHUMG00000032522 ENST00000396825.3:c.*862C>T chr20.hg19:g.42934403G>A NA A1L492|B9EGQ4|Q5TE59|Q9H3Y1 hg19 CCDS33473.1 0.02 7.671563 TGCxGTG COVERED NOVEL FITM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079342.2 17 9.227707 KEEP 1 6 156 86 2783 GG 1 1 0 - 12 60 347 0 0 19.560491 238 60 7594 495 ENST00000396825.3 0.048 1 PKIG 11142 __UNKNOWN__ __UNKNOWN__ 20 43206719 43206719 __UNKNOWN__ Intron SNP T T C rs553019870 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:43206719T>C ENST00000372889.1 + 2 70 PKIG_ENST00000372894.3_Intron|PKIG_ENST00000372892.3_Intron|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372891.3_Intron|PKIG_ENST00000477390.1_Intron|PKIG_ENST00000372887.1_Intron NM_001281444.1 NP_001268373.1 Q9Y2B9 IPKG_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor gamma NA NA negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165) cAMP-dependent protein kinase inhibitor activity (GO:0004862) breast(1)|urinary_tract(1) 2 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) tggtggctcatgcctgtaatc 0.473 NA t||| 1 0.000199681 8e-04 0 5008 , , NA 14035 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB019517 CCDS13334.1 20q13.12-q13.13 2008-07-03 ENSG00000168734 ENSG00000168734 11142 9019 protein-coding gene gene with protein product 604932 NA 10880337 Standard NM_181805 NA Approved uc002xmi.3 Q9Y2B9 OTTHUMG00000033065 ENST00000372889.1:c.-515-4507T>C chr20.hg19:g.43206719T>C NA hg19 CCDS13334.1 0.02 -0.315728 TCAxGCC COVERED NOVEL PKIG-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000127804.1 7 3.302422 KEEP 2 0 0 11 326 TT 0.993072 0.812795 0 + 3 60 93 0 0 6.410967 29 60 845 66 ENST00000372889.1 0.09375 0.818465 ADA 100 __UNKNOWN__ __UNKNOWN__ 20 43252660 43252660 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:43252660C>T ENST00000537820.1 - 6 690 ADA_ENST00000372874.4_Intron|ADA_ENST00000464097.1_Intron|PKIG_ENST00000372887.1_3'UTR P00813 ADA_HUMAN adenosine deaminase NA NA adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111) cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) gtgctgggatcacaggcatga 0.532 NA Adenosine Deaminase Deficiency NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Severe Combined Immunodeficiency (SCID) due to ADA-deficiency X02994 CCDS13335.1 20q13.12 2014-09-17 ENSG00000196839 ENSG00000196839 100 3.5.4.4 186 protein-coding gene gene with protein product 608958 NA 6198240, 6090454 Standard NM_000022 NM_000022 NA Approved uc002xmj.3 P00813 OTTHUMG00000033081 ENST00000537820.1:c.606+182G>A chr20.hg19:g.43252660C>T NA Q53F92|Q6LA59 hg19 0.02 6.055244 GATxACA COVERED NOVEL ADA-008 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000402954.1 50 22.343481 KEEP 1 5 144 125 4345 CC 1 1 0 - 16 60 430 1 0 25.529774 212 60 7106 548 ENST00000537820.1 0.070175 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 43485559 43485559 __UNKNOWN__ IGR SNP A A G rs561154229 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:43485559A>G NA NA RIMS4 (46580 upstream) : RN7SL31P (23919 downstream) NA NA NA aagaagaagaagaagaagaag 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.43485559A>G NA hg19 0.02 -0.289387 AGAxGAA UNCOVERED NOVEL 0 7 2.40766 KEEP 4 0 0 8 266 AA 0 0 0 4 60 134 1 2 10.074493 28 60 806 50 0.125 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 43485562 43485562 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:43485562A>G NA NA RIMS4 (46583 upstream) : RN7SL31P (23916 downstream) NA NA NA aagaagaagaagaagaagaag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.43485562A>G NA hg19 0.02 -0.280622 AGAxGAA COVERED NOVEL 0 7 2.708193 KEEP 4 0 0 9 284 AA 0.99257 0.734176 0 5 60 144 0 2 11.000096 24 60 703 49 0.172414 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 43589165 43589165 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:43589165C>T NA NA TOMM34 (38 upstream) : STK4-AS1 (3269 downstream) NA NA NA GGAACTTAGGCTCCCTTGCAC 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.43589165C>T NA hg19 0.02 -0.263125 AGGxTCC COVERED NOVEL 0 2 3.611876 KEEP 0 0 0 12 445 CC 0.993634 0.689252 0 11 60 313 0 0 27.98389 19 60 623 53 0.366667 0.693668 STK4 6789 __UNKNOWN__ __UNKNOWN__ 20 43707125 43707125 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:43707125C>T ENST00000372806.3 + 0 4867 STK4_ENST00000499879.2_3'UTR NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 NA NA apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) ggattacaggcgtgagccacc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(187;1039 2137 11798 21916 33213) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13341.1 20q11.2-q13.2 2014-09-17 ENSG00000101109 ENSG00000101109 6789 11408 protein-coding gene gene with protein product mammalian sterile 20-like 1, yeast Ste20-like, kinase responsive to stress 2 604965 NA 8816758, 9545236, 11517310 Standard NM_006282 NM_006282 NA Approved MST1, KRS2, YSK3 uc002xnb.3 Q13043 OTTHUMG00000033059 ENST00000372806.3:c.*3308C>T chr20.hg19:g.43707125C>T NA B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4 hg19 CCDS13341.1 0.02 2.948636 AGGxGTG COVERED NOVEL STK4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080401.4 17 6.019672 KEEP 2 0 0 20 707 CC 0.999863 0.999861 0 + 6 60 168 0 0 9.556663 105 60 3419 188 ENST00000372806.3 0.054054 0.999998 SNX21 90203 __UNKNOWN__ __UNKNOWN__ 20 44466987 44466987 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:44466987A>G ENST00000372542.1 + 3 732 SNX21_ENST00000372541.1_Intron|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000491381.1_Intron|SNX21_ENST00000462307.1_Intron|SNX21_ENST00000344780.4_Intron Q969T3 SNX21_HUMAN sorting nexin family member 21 NA NA protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020) phosphatidylinositol binding (GO:0035091) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Myeloproliferative disorder(115;0.0122) ctcccaaagtactgggattac 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095851 CCDS13376.1, CCDS13377.1, CCDS42883.1 20q13.12 2013-01-10 2006-07-24 2006-07-24 ENSG00000124104 ENSG00000124104 90203 Sorting nexins, Tetratricopeptide (TTC) repeat domain containing 16154 protein-coding gene gene with protein product chromosome 20 open reading frame 161 C20orf161 NA 12461558, 12459172 Standard NM_033421 NM_152897 NA Approved dJ337O18.4, SNX-L uc002xpv.1 Q969T3 OTTHUMG00000032624 ENST00000372542.1:c.421-2291A>G chr20.hg19:g.44466987A>G NA Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16 hg19 0.02 -0.385379 AGTxCTG COVERED NOVEL SNX21-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000079527.1 8 2.705307 KEEP 0 0 0 9 255 AA 0.99254 0.919727 0 + 4 60 118 0 0 8.072146 36 60 977 69 ENST00000372542.1 0.1 0.92664 ZSWIM1 90204 __UNKNOWN__ __UNKNOWN__ 20 44513634 44513634 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:44513634G>A ENST00000372523.1 + 0 2498 ZSWIM1_ENST00000372520.1_3'UTR NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 NA NA nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) agcctgggagggtgagactcc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL008726 CCDS13382.2 20q13.12 2013-09-20 2003-12-17 2003-12-19 ENSG00000168612 ENSG00000168612 90204 Zinc fingers, SWIM-type 16155 protein-coding gene gene with protein product chromosome 20 open reading frame 162 C20orf162 NA Standard NM_080603 NM_080603 NA Approved dJ337O18.5 uc010ghi.3 Q9BR11 OTTHUMG00000074023 ENST00000372523.1:c.*945G>A chr20.hg19:g.44513634G>A NA Q5JZH2|Q9BR12|Q9BV30 hg19 CCDS13382.2 0.02 1.404141 GAGxGTG COVERED NOVEL ZSWIM1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157064.2 9 4.51424 KEEP 0 0 0 15 527 GG 0.99649 0.991591 0 + 5 60 156 0 0 10.55769 54 60 1761 109 ENST00000372523.1 0.084746 0.995084 PCIF1 63935 __UNKNOWN__ __UNKNOWN__ 20 44570830 44570830 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:44570830G>T ENST00000372409.3 + 8 1037 NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 NA NA negative regulation of phosphatase activity (GO:0010923) intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 ggccaggatggtctcgatctc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB050014 CCDS13388.1 20q13.12 2014-06-13 2008-04-29 2008-04-29 ENSG00000100982 ENSG00000100982 63935 16200 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 121 chromosome 20 open reading frame 67 C20orf67 NA 12565871, 15121856 Standard NM_022104 NM_022104 NA Approved bA465L10.1, PPP1R121 uc002xqs.3 Q9H4Z3 OTTHUMG00000032635 ENST00000372409.3:c.674-906G>T chr20.hg19:g.44570830G>T NA E1P5P1|Q54AB9|Q9NT85 hg19 CCDS13388.1 0.02 -0.350801 ATGxTCT COVERED NOVEL PCIF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079550.1 6 4.744284 KEEP 4 1 23 24 777 GG 0.999892 0.888779 0 + 6 60 166 0 0 16.536463 4 60 139 78 ENST00000372409.3 0.6 0.888875 EYA2 2139 __UNKNOWN__ __UNKNOWN__ 20 45736291 45736291 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:45736291A>G ENST00000327619.5 + 9 1262 EYA2_ENST00000357410.3_Intron|EYA2_ENST00000317304.6_Intron NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN EYA transcriptional coactivator and phosphatase 2 NA NA DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) accagcctggacaacatgaga 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(120;56 1725 18501 25218 43520) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13403.1, CCDS54471.1 20q13.1 2014-06-19 2014-06-19 ENSG00000064655 ENSG00000064655 2139 Protein tyrosine phosphatases / Asp-based PTPs 3520 protein-coding gene gene with protein product 601654 eyes absent (Drosophila) homolog 2, eyes absent homolog 2 (Drosophila) NA 9020840 Standard NM_005244 NM_005244 NA Approved EAB1 uc002xsm.3 O00167 OTTHUMG00000033041 ENST00000327619.5:c.888+10484A>G chr20.hg19:g.45736291A>G NA Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7 hg19 CCDS13403.1 0.02 -0.271851 TGGxCAA COVERED NOVEL EYA2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080326.2 5 3.310211 KEEP 0 0 0 11 355 AA 0.993072 0.734547 0 + 3 60 94 0 0 6.744552 24 60 683 54 ENST00000327619.5 0.111111 0.739671 SULF2 55959 __UNKNOWN__ __UNKNOWN__ 20 46307613 46307613 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:46307613G>T ENST00000359930.4 - 8 1916 SULF2_ENST00000361612.4_Intron|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Intron|SULF2_ENST00000467815.1_Intron NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 NA NA bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449) breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 TCGCGTGGGGGGTGGGGAGCG 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY101176 CCDS13408.1, CCDS13409.1, CCDS13409.2 20q13.12-q13.13 2008-05-14 ENSG00000196562 ENSG00000196562 55959 20392 protein-coding gene gene with protein product 610013 NA 12368295 Standard NM_018837 NM_018837 NA Approved KIAA1247, HSULF-2, SULF-2 uc002xto.3 Q8IWU5 OTTHUMG00000032675 ENST00000359930.4:c.1065-65C>A chr20.hg19:g.46307613G>T NA E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3 hg19 CCDS13408.1 0.02 1.520096 GGGxGTG COVERED NOVEL SULF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079606.1 0 8.726749 KEEP 0 0 0 29 947 GG 0.999997 0.9937 0 - 15 60 441 0 0 36.009679 50 60 1659 116 ENST00000359930.4 0.230769 0.993703 PREX1 57580 __UNKNOWN__ __UNKNOWN__ 20 47282963 47282963 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:47282963G>T ENST00000371941.3 - 15 1688 PREX1_ENST00000396220.1_Intron NM_020820.3 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 NA NA actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217) cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCAACGAGAAGCCCACAAcca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037836 CCDS13410.1 20q13.13 2013-01-10 2008-09-15 ENSG00000124126 ENSG00000124126 57580 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 32594 protein-coding gene gene with protein product 606905 NA 11955434, 15545267, 16301320 Standard NM_020820 NM_020820 NA Approved KIAA1415, P-REX1 uc002xtw.1 Q8TCU6 OTTHUMG00000032685 ENST00000371941.3:c.1666-70C>A chr20.hg19:g.47282963G>T NA E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4 hg19 CCDS13410.1 0.02 3.078419 GAAxCCC COVERED NOVEL PREX1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079623.1 5 12.942801 KEEP 0 0 0 43 1579 GG 1 1 0 - 20 60 588 0 0 43.942688 113 60 3917 262 ENST00000371941.3 0.150376 1 DDX27 55661 __UNKNOWN__ __UNKNOWN__ 20 47854805 47854805 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:47854805T>C ENST00000371764.4 + 15 1789 ZNFX1_ENST00000371754.4_3'UTR|DDX27_ENST00000484427.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 NA NA nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ccacccgccttggcctcccaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL049766 CCDS13416.1 20q13.13 2010-07-06 2003-06-13 ENSG00000124228 ENSG00000124228 55661 DEAD-boxes 15837 protein-coding gene gene with protein product DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27 NA Standard NM_017895 NA Approved dJ686N3.1, DRS1 uc002xuh.3 Q96GQ7 OTTHUMG00000033072 ENST00000371764.4:c.1781-681T>C chr20.hg19:g.47854805T>C NA A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6 hg19 CCDS13416.1 0.02 -0.263055 CCTxGGC COVERED NOVEL DDX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080485.1 5 5.715427 KEEP 0 0 0 19 562 TT 0.99986 0.717215 0 + 3 60 93 0 0 6.643667 24 60 658 62 ENST00000371764.4 0.111111 0.717315 ZNFX1 57169 __UNKNOWN__ __UNKNOWN__ 20 47877233 47877233 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:47877233A>C ENST00000396105.1 - 7 2548 ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Intron NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 NA NA metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) aatcccagcaatttggaaggc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022641 CCDS13417.1 20q13.13 2014-02-12 ENSG00000124201 ENSG00000124201 57169 29271 protein-coding gene gene with protein product NA 10718198 Standard NM_021035 NM_021035 NA Approved KIAA1404, FLJ11277 uc002xui.3 Q9P2E3 OTTHUMG00000032696 ENST00000396105.1:c.2302-119T>G chr20.hg19:g.47877233A>C NA Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1 hg19 CCDS13417.1 0.02 -0.315682 GCAxTTT COVERED NOVEL ZNFX1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079647.2 0 5.4055 KEEP 0 0 0 18 521 AA 0.999859 0.818349 0 - 3 60 94 0 0 6.468936 30 60 852 65 ENST00000396105.1 0.090909 0.818465 B4GALT5 9334 __UNKNOWN__ __UNKNOWN__ 20 48301081 48301081 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:48301081T>C ENST00000371711.4 - 2 303 NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) gcctgggcgatagagcaagac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB004550 CCDS13420.1 20q13.1-q13.2 2013-02-19 ENSG00000158470 ENSG00000158470 9334 Beta 4-glycosyltransferases 928 protein-coding gene gene with protein product beta4-GalT IV 604016 NA 9597550, 9435216 Standard NM_004776 NM_004776 NA Approved beta4GalT-V uc002xuu.4 O43286 OTTHUMG00000033086 ENST00000371711.4:c.116-27842A>G chr20.hg19:g.48301081T>C NA E1P625|Q2M394|Q9UJQ8 hg19 CCDS13420.1 0.02 3.529501 CGAxAGA COVERED NOVEL B4GALT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080543.3 18 13.8379 KEEP 0 0 0 46 1364 TT 1 1 0 - 7 60 221 0 0 13.984637 109 60 3011 255 ENST00000371711.4 0.060345 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 48640621 48640621 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:48640621T>G NA NA SNAI1 (35198 upstream) : TRERNA1 (16631 downstream) NA NA NA gaggtcaggatttcaagacca 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.48640621T>G NA hg19 0.02 -0.245516 GGAxTTC COVERED NOVEL 0 3 2.407582 KEEP 0 0 0 8 262 TT 0.99257 0.636582 0 3 60 97 0 0 7.150223 22 60 653 51 0.12 0.641347 FAM65C 140876 __UNKNOWN__ __UNKNOWN__ 20 49206102 49206102 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:49206102A>G ENST00000327979.2 - 20 3061 FAM65C_ENST00000462842.1_Intron|FAM65C_ENST00000045083.2_Intron|FAM65C_ENST00000535356.1_Intron Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C NA NA endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 caaagtgctgagattacaggc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL133230 CCDS13431.2 20q13.13 2011-11-24 2008-06-13 2008-06-13 ENSG00000042062 ENSG00000042062 140876 16168 protein-coding gene gene with protein product chromosome 20 open reading frame 175, chromosome 20 open reading frame 176 C20orf175, C20orf176 NA Standard XM_005260294 NA Approved dJ530I15.2, dJ530I15.3 uc002xvm.3 Q96MK2 OTTHUMG00000032724 ENST00000327979.2:c.2649+120T>C chr20.hg19:g.49206102A>G NA Q5QPB6|Q9NQQ2 hg19 CCDS13431.2 0.02 1.69016 CTGxGAT COVERED NOVEL FAM65C-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257962.1 10 7.206882 KEEP 1 0 0 24 768 AA 0.999892 0.999754 0 - 4 60 131 0 0 8.096077 77 60 2316 130 ENST00000327979.2 0.049383 0.999862 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 49313921 49313921 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:49313921A>G NA NA FAM65C (5856 upstream) : PARD6B (34159 downstream) NA NA NA aggttccagcaattctcctgc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.49313921A>G NA hg19 0.02 -0.201597 AGCxATT COVERED NOVEL 0 1 3.007894 KEEP 0 0 0 10 283 AA 0.992708 0.486967 0 3 60 90 0 0 6.566604 20 60 526 38 0.130435 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 49333485 49333485 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:49333485T>C NA NA FAM65C (25420 upstream) : PARD6B (14595 downstream) NA NA NA ctgaggtgggtggatcacttg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.49333485T>C NA hg19 0.02 -0.253525 GGGxGGA COVERED NOVEL 0 4 2.708317 KEEP 2 0 0 9 286 TT 0.99254 0.663536 0 4 60 103 0 0 7.302776 24 60 708 60 0.142857 0.668523 ATP9A 10079 __UNKNOWN__ __UNKNOWN__ 20 50346207 50346207 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:50346207T>C ENST00000477492.1 - 2 356 ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000338821.5_Intron O75110 ATP9A_HUMAN ATPase, class II, type 9A NA NA phospholipid translocation (GO:0045332) early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 tcgcttgaactcaggaggcgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014511 CCDS33489.1 20q13.2 2010-04-20 2007-09-19 ENSG00000054793 ENSG00000054793 10079 ATPases / P-type 13540 protein-coding gene gene with protein product 609126 ATPase, Class II, type 9A NA 9734811, 11015572 Standard NM_006045 NM_006045 NA Approved KIAA0611, ATPIIA uc002xwg.1 O75110 OTTHUMG00000032751 ENST00000477492.1:c.114+165A>G chr20.hg19:g.50346207T>C NA E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7 hg19 0.02 -0.184181 AACxCAG COVERED NOVEL ATP9A-002 PUTATIVE not_organism_supported|basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000079734.3 4 2.407153 KEEP 0 0 0 8 248 TT 0.99257 0.420331 0 - 3 60 98 0 0 7.561007 17 60 499 33 ENST00000477492.1 0.15 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 50625392 50625392 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:50625392A>G NA NA RN7SL603P (68020 upstream) : ZFP64 (42809 downstream) NA NA NA ggttgctcacacctgtaatcc 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.50625392A>G NA hg19 0.02 -0.23675 CACxCCT COVERED NOVEL 0 2 2.707825 KEEP 1 0 0 9 271 AA 0.99254 0.607839 0 4 60 128 0 0 9.8629 22 60 636 51 0.153846 0.612407 ZFP64 55734 __UNKNOWN__ __UNKNOWN__ 20 50768511 50768511 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:50768511C>G ENST00000361387.2 - 5 824 ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_3'UTR|ZFP64_ENST00000371515.4_3'UTR|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000216923.4_3'UTR NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 gggaggcggacgttgcagtga 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001596 CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1 20q13.11-q13.13 2013-01-08 2012-11-27 ENSG00000020256 ENSG00000020256 55734 Zinc fingers, C2H2-type 15940 protein-coding gene gene with protein product zinc finger protein 338, zinc finger protein 64 homolog (mouse), zinc finger protein 64 ZNF338 NA 9034307 Standard NM_018197 NM_199427 NA Approved FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1 uc002xwl.3 Q9NPA5 OTTHUMG00000032756 ENST00000361387.2:c.763+8150G>C chr20.hg19:g.50768511C>G NA Q9NTS7|Q9NVH4 hg19 CCDS13439.1 0.02 5.950598 GGAxGTT COVERED NOVEL ZFP64-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079743.2 8 9.464796 KEEP 1 1 30 42 1468 CC 1 1 0 - 8 60 254 0 0 15.236621 162 60 5201 262 ENST00000361387.2 0.047059 1 ZFP64 55734 __UNKNOWN__ __UNKNOWN__ 20 50768554 50768554 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:50768554A>C ENST00000361387.2 - 5 824 ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_3'UTR|ZFP64_ENST00000371515.4_3'UTR|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000216923.4_3'UTR NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 ccagcctgggaaacagagcga 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001596 CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1 20q13.11-q13.13 2013-01-08 2012-11-27 ENSG00000020256 ENSG00000020256 55734 Zinc fingers, C2H2-type 15940 protein-coding gene gene with protein product zinc finger protein 338, zinc finger protein 64 homolog (mouse), zinc finger protein 64 ZNF338 NA 9034307 Standard NM_018197 NM_199427 NA Approved FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1 uc002xwl.3 Q9NPA5 OTTHUMG00000032756 ENST00000361387.2:c.763+8107T>G chr20.hg19:g.50768554A>C NA Q9NTS7|Q9NVH4 hg19 CCDS13439.1 0.02 7.601821 GGGxAAC COVERED NOVEL ZFP64-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079743.2 22 13.071207 KEEP 2 1 36 56 1735 AA 1 1 0 - 11 60 369 1 0 23.240124 207 60 6048 430 ENST00000361387.2 0.050459 1 ZNF217 7764 __UNKNOWN__ __UNKNOWN__ 20 52188156 52188156 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:52188156A>G ENST00000371471.2 - 5 3596 RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Intron O75362 ZN217_HUMAN zinc finger protein 217 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) atgttggccaagctggtctca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF041259 CCDS13443.1 20q13.2 2013-01-08 ENSG00000171940 ENSG00000171940 7764 Zinc fingers, C2H2-type 13009 protein-coding gene gene with protein product 602967 NA 9671742 Standard NM_006526 NM_006526 NA Approved ZABC1 uc002xwq.4 O75362 OTTHUMG00000032764 ENST00000371471.2:c.3144+103T>C chr20.hg19:g.52188156A>G NA E1P5Y6|Q14DB8 hg19 CCDS13443.1 0.02 5.563938 CCAxGCT COVERED NOVEL ZNF217-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079757.2 11 38.750415 KEEP 0 4 147 180 5840 AA 1 1 0 - 7 60 241 0 0 14.529879 177 60 5314 468 ENST00000371471.2 0.038043 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 52395309 52395309 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:52395309A>C NA NA RNU7-14P (110012 upstream) : AC006076.1 (21052 downstream) NA NA NA ggattacaggaatgagccacc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.52395309A>C NA hg19 0.02 -0.210443 AGGxATG COVERED NOVEL 0 4 2.40741 KEEP 0 0 0 8 258 AA 0.99257 0.518282 0 3 60 97 0 0 7.461534 17 60 480 42 0.15 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 52424437 52424437 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:52424437A>G NA NA AC006076.1 (6580 upstream) : AC005220.3 (132261 downstream) NA NA NA tgatccgcccacctcggcctc 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.52424437A>G NA hg19 0.02 -0.350816 CCCxCCT COVERED NOVEL 0 6 2.70739 KEEP 5 0 0 9 264 AA 0.99257 0.871187 0 5 60 162 0 0 12.043411 35 60 1043 78 0.125 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 52699481 52699481 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:52699481G>A NA NA BCAS1 (12177 upstream) : CYP24A1 (70506 downstream) NA NA NA taatcccagcgctttgggagg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.52699481G>A NA hg19 0.02 -0.219105 AGCxCTT COVERED NOVEL 0 5 3.310545 KEEP 0 0 0 11 374 GG 0.993072 0.549057 0 4 60 110 1 0 8.299875 19 60 610 51 0.173913 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 54639479 54639479 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:54639479T>C NA NA CBLN4 (58951 upstream) : RNA5SP487 (140628 downstream) NA NA NA atgtaacaaatctgcacgttc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.54639479T>C NA hg19 0.02 -0.315701 AAAxCTG COVERED NOVEL 0 5 3.009112 KEEP 0 0 0 10 312 TT 0.992708 0.829622 0 5 60 167 0 0 12.99193 28 60 809 57 0.151515 0.835716 FAM210B 116151 __UNKNOWN__ __UNKNOWN__ 20 54940968 54940968 __UNKNOWN__ Intron SNP A A G rs371663773 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:54940968A>G ENST00000371384.3 + 3 453 NM_080821.2 NP_543011.2 Q96KR6 F210B_HUMAN family with sequence similarity 210, member B NA NA integral component of membrane (GO:0016021) NA ccaaagtgctaggattacagg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL121914 CCDS13450.1 20q13.2 2011-11-24 2011-11-24 2011-11-24 ENSG00000124098 ENSG00000124098 116151 16102 protein-coding gene gene with protein product hypothetical protein LOC116151 chromosome 20 open reading frame 108 C20orf108 NA 11780052 Standard NM_080821 NM_080821 NA Approved dJ1167H4.1, DKFZP434A1114 uc002xxc.3 Q96KR6 OTTHUMG00000032793 ENST00000371384.3:c.363-159A>G chr20.hg19:g.54940968A>G NA B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418 hg19 CCDS13450.1 0.02 -0.359523 GCTxGGA COVERED NOVEL FAM210B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079800.2 5 2.406226 KEEP 1 0 0 8 238 AA 0.99257 0.882271 0 + 4 60 132 0 0 9.709708 31 60 881 67 ENST00000371384.3 0.114286 0.888875 FAM210B 116151 __UNKNOWN__ __UNKNOWN__ 20 54942670 54942670 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:54942670C>T ENST00000371384.3 + 0 1997 NM_080821.2 NP_543011.2 Q96KR6 F210B_HUMAN family with sequence similarity 210, member B NA NA integral component of membrane (GO:0016021) NA ccagcctgggcgacagaggga 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL121914 CCDS13450.1 20q13.2 2011-11-24 2011-11-24 2011-11-24 ENSG00000124098 ENSG00000124098 116151 16102 protein-coding gene gene with protein product hypothetical protein LOC116151 chromosome 20 open reading frame 108 C20orf108 NA 11780052 Standard NM_080821 NM_080821 NA Approved dJ1167H4.1, DKFZP434A1114 uc002xxc.3 Q96KR6 OTTHUMG00000032793 ENST00000371384.3:c.*1327C>T chr20.hg19:g.54942670C>T NA B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418 hg19 CCDS13450.1 0.02 5.685164 GGGxGAC COVERED NOVEL FAM210B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079800.2 49 19.261316 KEEP 3 0 0 64 2223 CC 1 1 0 + 8 60 238 2 1 13.146213 187 60 6226 430 ENST00000371384.3 0.041026 1 CSTF1 1477 __UNKNOWN__ __UNKNOWN__ 20 54977731 54977731 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:54977731A>G ENST00000217109.4 + 6 1388 CSTF1_ENST00000493039.1_Intron NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) ggtggctcacacctgtaatcc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13452.1 20q13.31 2013-01-10 2002-08-29 ENSG00000101138 ENSG00000101138 1477 WD repeat domain containing 2483 protein-coding gene gene with protein product 600369 cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD NA 1358884, 11257228 Standard NM_001033521 NM_001033521 NA Approved uc002xxl.1 Q05048 OTTHUMG00000032791 ENST00000217109.4:c.1037-793A>G chr20.hg19:g.54977731A>G NA Q5QPD8 hg19 CCDS13452.1 0.02 -0.27191 CACxCCT COVERED NOVEL CSTF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079794.2 6 2.707754 KEEP 2 0 0 9 271 AA 0.99254 0.711964 0 + 4 60 133 0 0 10.222818 24 60 733 67 ENST00000217109.4 0.142857 0.717315 CTCFL 140690 __UNKNOWN__ __UNKNOWN__ 20 56075272 56075272 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:56075272C>G ENST00000423479.3 - 11 1931 CTCFL_ENST00000243914.3_Intron|CTCFL_ENST00000609232.1_Intron|CTCFL_ENST00000433949.3_3'UTR|CTCFL_ENST00000608440.1_3'UTR|CTCFL_ENST00000608263.1_Intron|CTCFL_ENST00000502686.2_3'UTR|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000371196.2_Intron NM_001269043.1 NP_001255972.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like NA NA cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) tgtaatcccaccactttggga 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1 20q13.31 2013-01-08 ENSG00000124092 ENSG00000124092 140690 Zinc fingers, C2H2-type 16234 protein-coding gene gene with protein product cancer/testis antigen 27 607022 NA Standard NM_080618 NM_001269040 NA Approved dJ579F20.2, BORIS, CT27 uc010giw.1 Q8NI51 OTTHUMG00000032829 ENST00000423479.3:c.1841-1515G>C chr20.hg19:g.56075272C>G NA A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3 hg19 CCDS58780.1 0.02 1.979434 CCAxCAC COVERED NOVEL CTCFL-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000472061.1 7 2.708375 KEEP 1 0 0 9 298 CC 0.99254 0.97682 0 - 5 60 172 0 0 12.483381 46 60 1579 98 ENST00000423479.3 0.098039 0.984161 CTCFL 140690 __UNKNOWN__ __UNKNOWN__ 20 56075440 56075440 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:56075440A>G ENST00000423479.3 - 11 1931 CTCFL_ENST00000243914.3_Intron|CTCFL_ENST00000609232.1_Intron|CTCFL_ENST00000433949.3_Missense_Mutation_p.C418R|CTCFL_ENST00000608440.1_Missense_Mutation_p.C623R|CTCFL_ENST00000608263.1_Intron|CTCFL_ENST00000502686.2_Missense_Mutation_p.C361R|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000371196.2_Intron NM_001269043.1 NP_001255972.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like NA NA cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) cccaggaggcagaggttgcgg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1 20q13.31 2013-01-08 ENSG00000124092 ENSG00000124092 140690 Zinc fingers, C2H2-type 16234 protein-coding gene gene with protein product cancer/testis antigen 27 607022 NA Standard NM_080618 NM_001269040 NA Approved dJ579F20.2, BORIS, CT27 uc010giw.1 Q8NI51 OTTHUMG00000032829 ENST00000423479.3:c.1841-1683T>C chr20.hg19:g.56075440A>G NA A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3 hg19 CCDS58780.1 0.02 5.525897 GGCxGAG COVERED . . . . . . . . . . A 7.299 0.612611 0.14066 . . ENSG00000124092 ENST00000433949;ENST00000502686 T;T 0.01272 5.07;5.07 0.235 0.235 0.15431 . . . . . T 0.01189 0.0039 . . . 0.20638 N 0.99988 P 0.39520 0.676 B 0.42343 0.384 T 0.50013 -0.8877 7 0.14252 T 0.57 . . . . . 623 A6XGM2 . R 623;361 ENSP00000392034:C623R;ENSP00000437999:C361R ENSP00000392034:C623R C - 1 0 CTCFL 55508846 0.269000 0.24143 0.293000 0.24932 0.305000 0.27757 0.349000 0.20055 0.263000 0.21812 0.260000 0.18958 TGC NOVEL CTCFL-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000472061.1 20 10.833621 KEEP 1 0 0 36 1152 AA 0.999999 0.999999 0 - 6 60 213 0 0 12.835587 168 60 5031 344 ENST00000423479.3 0.034483 1 CTCFL 140690 __UNKNOWN__ __UNKNOWN__ 20 56075449 56075449 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:56075449G>A ENST00000423479.3 - 11 1931 CTCFL_ENST00000243914.3_Intron|CTCFL_ENST00000609232.1_Intron|CTCFL_ENST00000433949.3_Missense_Mutation_p.R415C|CTCFL_ENST00000608440.1_Missense_Mutation_p.R620C|CTCFL_ENST00000608263.1_Intron|CTCFL_ENST00000502686.2_Missense_Mutation_p.R358C|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000371196.2_Intron NM_001269043.1 NP_001255972.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like NA NA cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) cagaggttgcggtgagctgag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1 20q13.31 2013-01-08 ENSG00000124092 ENSG00000124092 140690 Zinc fingers, C2H2-type 16234 protein-coding gene gene with protein product cancer/testis antigen 27 607022 NA Standard NM_080618 NM_001269040 NA Approved dJ579F20.2, BORIS, CT27 uc010giw.1 Q8NI51 OTTHUMG00000032829 ENST00000423479.3:c.1841-1692C>T chr20.hg19:g.56075449G>A NA A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3 hg19 CCDS58780.1 0.02 4.324157 TGCxGTG COVERED . . . . . . . . . . G 0.180 -1.063011 0.01950 . . ENSG00000124092 ENST00000433949;ENST00000502686 T;T 0.08984 3.03;3.03 0.235 -0.47 0.12131 . . . . . T 0.04588 0.0125 . . . 0.09310 N 0.999996 B 0.31968 0.349 B 0.06405 0.002 T 0.34153 -0.9840 7 0.62326 D 0.03 . . . . . 620 A6XGM2 . C 620;358 ENSP00000392034:R620C;ENSP00000437999:R358C ENSP00000392034:R620C R - 1 0 CTCFL 55508855 0.060000 0.20803 0.164000 0.22755 0.172000 0.22775 -0.541000 0.06099 -0.671000 0.05274 -0.657000 0.03884 CGC NOVEL CTCFL-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000472061.1 20 3.782595 KEEP 1 2 64 35 1239 GG 1 1 0 - 7 60 208 0 0 11.424289 167 60 5553 356 ENST00000423479.3 0.04023 1 CTSZ 1522 __UNKNOWN__ __UNKNOWN__ 20 57571959 57571959 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:57571959T>C ENST00000217131.5 - 5 757 NM_001336.3 NP_001327.2 Q9UBR2 CATZ_HUMAN cathepsin Z NA NA angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886) cysteine-type peptidase activity (GO:0008234) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 10 all_lung(29;0.00711) Colorectal(105;0.109) cgcctgtaattccagcacttt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF032906 CCDS13474.1 20q13.32 2012-02-10 ENSG00000101160 ENSG00000101160 1522 Cathepsins 2547 protein-coding gene gene with protein product cathepsin X, carboxypeptidase LB, cathepsin IV, cathepsin B2, cathepsin Y, cathepsin Z1, cysteine-type carboxypeptidase, lysosomal carboxypeptidase B 603169 NA 9642240 Standard NM_001336 NM_001336 NA Approved CTSX uc002yai.2 Q9UBR2 OTTHUMG00000032858 ENST00000217131.5:c.639-103A>G chr20.hg19:g.57571959T>C NA B2RC40|O75331|Q9UQV5|Q9UQV6 hg19 CCDS13474.1 0.02 -0.403462 AATxCCA COVERED NOVEL CTSZ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079899.1 8 4.814919 KEEP 0 0 0 16 517 TT 0.997832 0.932466 0 - 4 60 136 0 0 9.818423 37 60 1110 74 ENST00000217131.5 0.097561 0.934492 SS18L1 26039 __UNKNOWN__ __UNKNOWN__ 20 60755679 60755679 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:60755679T>C ENST00000331758.3 + 0 2632 SS18L1_ENST00000421564.1_3'UTR|SS18L1_ENST00000370848.4_3'UTR NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 NA NA chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634) SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) ATTCTTggcgtggtggttcac 0.443 NA T SSX1 synovial sarcoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 20 20q13.3 26039 synovial sarcoma translocation gene on chromosome 18-like 1 M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014593 CCDS13491.1 20q13.3 2008-07-28 ENSG00000184402 ENSG00000184402 26039 15592 protein-coding gene gene with protein product 606472 NA Standard XM_005260389 NA Approved KIAA0693 uc002ycb.3 O75177 OTTHUMG00000032902 ENST00000331758.3:c.*1415T>C chr20.hg19:g.60755679T>C NA A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6 hg19 CCDS13491.1 0.02 -0.377098 GCGxGGT COVERED NOVEL SS18L1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080004.2 3 4.513449 KEEP 0 0 0 15 466 TT 0.99649 0.905878 0 + 3 60 96 0 0 6.341216 39 60 1123 65 ENST00000331758.3 0.071429 0.909069 SS18L1 26039 __UNKNOWN__ __UNKNOWN__ 20 60755685 60755685 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:60755685T>C ENST00000331758.3 + 0 2638 SS18L1_ENST00000421564.1_3'UTR|SS18L1_ENST00000370848.4_3'UTR NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 NA NA chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634) SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) ggcgtggtggttcacgcctgt 0.463 NA T SSX1 synovial sarcoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 20 20q13.3 26039 synovial sarcoma translocation gene on chromosome 18-like 1 M 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014593 CCDS13491.1 20q13.3 2008-07-28 ENSG00000184402 ENSG00000184402 26039 15592 protein-coding gene gene with protein product 606472 NA Standard XM_005260389 NA Approved KIAA0693 uc002ycb.3 O75177 OTTHUMG00000032902 ENST00000331758.3:c.*1421T>C chr20.hg19:g.60755685T>C NA A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6 hg19 CCDS13491.1 0.02 -0.34203 TGGxTCA COVERED NOVEL SS18L1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080004.2 3 5.115988 KEEP 0 0 0 17 554 TT 0.999366 0.865197 0 + 5 60 177 0 0 13.661533 33 60 949 66 ENST00000331758.3 0.131579 0.865745 OSBPL2 9885 __UNKNOWN__ __UNKNOWN__ 20 60870288 60870288 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:60870288G>A ENST00000313733.3 + 0 2990 OSBPL2_ENST00000358053.2_3'UTR|OSBPL2_ENST00000471817.1_3'UTR NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 NA NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) gattacaggcgtgagccactg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018315 CCDS13494.1, CCDS13495.1, CCDS63323.1 20q13.3 2008-08-01 2001-11-28 ENSG00000130703 ENSG00000130703 9885 Oxysterol binding proteins 15761 protein-coding gene gene with protein product 606731 oxysterol-binding protein-like 2 NA 10588946, 11861666 Standard NM_014835 NM_144498 NA Approved KIAA0772, ORP-2 uc002yck.1 Q9H1P3 OTTHUMG00000032909 ENST00000313733.3:c.*1345G>A chr20.hg19:g.60870288G>A NA A8K736|Q6IBT0|Q9BZB1|Q9Y4B8 hg19 CCDS13495.1 0.02 2.565181 GGCxTGA COVERED NOVEL OSBPL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080021.1 11 9.016176 KEEP 1 0 0 30 949 GG 0.999997 0.999997 0 + 7 60 208 0 0 12.201154 128 60 4008 214 ENST00000313733.3 0.051852 1 OGFR 11054 __UNKNOWN__ __UNKNOWN__ 20 61437811 61437811 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:61437811A>G ENST00000290291.6 + 2 196 OGFR_ENST00000370461.1_5'UTR NM_007346.2 NP_031372.2 Q9NZT2 OGFR_HUMAN opioid growth factor receptor NA NA opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) opioid receptor activity (GO:0004985) endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) agaatcgcttaaacctgggag 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF109134 CCDS13504.1 20q13.3 2008-05-02 ENSG00000060491 ENSG00000060491 11054 15768 protein-coding gene gene with protein product 606459 NA 10677613 Standard NM_007346 NA Approved 7-60 uc002ydj.3 Q9NZT2 OTTHUMG00000032937 ENST00000290291.6:c.172-1078A>G chr20.hg19:g.61437811A>G NA O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4 hg19 CCDS13504.1 0.02 1.813092 CTTxAAC COVERED NOVEL OGFR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080067.1 9 8.402545 KEEP 0 0 0 28 807 AA 0.999997 0.998864 0 + 6 60 198 0 0 13.738448 65 60 1768 135 ENST00000290291.6 0.084507 0.998867 GMEB2 26205 __UNKNOWN__ __UNKNOWN__ 20 62236341 62236341 __UNKNOWN__ Intron SNP A A C rs73622834 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:62236341A>C ENST00000266068.1 - 2 610 GMEB2_ENST00000370077.1_Intron Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) cggtggctcaagcctgtaatc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF173867 CCDS13528.1 20q13.33 2008-07-02 ENSG00000101216 ENSG00000101216 26205 4371 protein-coding gene gene with protein product 607451 NA 10523663, 11743720 Standard NM_012384 NM_012384 NA Approved P79PIF, KIAA1269, PIF79 uc002yfq.1 Q9UKD1 OTTHUMG00000032988 ENST00000266068.1:c.132-148T>G chr20.hg19:g.62236341A>C NA E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1 hg19 CCDS13528.1 0.02 3.745087 TCAxGCC COVERED NOVEL GMEB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080166.1 9 4.881193 KEEP 0 2 68 40 1201 AA 1 0.999977 0 - 9 60 277 0 1 19.631815 74 60 2126 176 ENST00000266068.1 0.108434 0.999978 RTEL1 51750 __UNKNOWN__ __UNKNOWN__ 20 62315987 62315987 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:62315987T>C ENST00000360203.5 + 15 1516 RTEL1-TNFRSF6B_ENST00000482936.1_Intron|RTEL1_ENST00000318100.4_Intron|RTEL1_ENST00000508582.2_Intron|RTEL1_ENST00000370018.3_Intron regulator of telomere elongation helicase 1 NA NA NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) tgagccaccgtgcccagccTG 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029011 CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1 20q13.3 2012-06-27 2004-10-29 2004-10-29 ENSG00000258366 ENSG00000258366 51750 15888 protein-coding gene gene with protein product 608833 chromosome 20 open reading frame 41 C20orf41 NA 10655513, 15210109 Standard NM_032957 NM_016434 NA Approved bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL uc011abd.2 Q9NZ71 OTTHUMG00000032992 ENST00000360203.5:c.1192-889T>C chr20.hg19:g.62315987T>C NA hg19 0.02 -0.254318 CCGxGCC COVERED NOVEL RTEL1-011 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000289781.1 9 3.006194 KEEP 0 0 0 10 298 TT 0.992708 0.663648 0 + 3 60 104 0 0 7.742501 24 60 689 55 ENST00000360203.5 0.111111 0.668523 ZNF512B 57473 __UNKNOWN__ __UNKNOWN__ 20 62653930 62653930 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr20:62653930A>G ENST00000450537.1 - 1 56 ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Intron Q96KM6 Z512B_HUMAN zinc finger protein 512B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) caaagtgctgagattacaggc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033022 CCDS13548.1 20q13.33 2011-02-09 ENSG00000196700 ENSG00000196700 57473 29212 protein-coding gene gene with protein product NA 10574462 Standard NM_020713 NM_020713 NA Approved GM632, MGC149845, MGC149846 uc002yhl.2 Q96KM6 OTTHUMG00000033008 ENST00000450537.1:c.4+26127T>C chr20.hg19:g.62653930A>G NA Q08AK9|Q9ULM4 hg19 CCDS13548.1 0.02 -0.157886 CTGxGAT COVERED NOVEL ZNF512B-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080246.1 2 2.708479 KEEP 0 0 0 9 294 AA 0.99254 0.320398 0 - 3 60 103 1 0 8.37873 13 60 398 39 ENST00000450537.1 0.1875 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9434167 9434167 __UNKNOWN__ IGR SNP G G T rs368576729 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9434167G>T NA NA None (None upstream) : CR381670.1 (249023 downstream) NA NA NA aggccgaagtggacagatcac 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9434167G>T NA hg19 0.02 -0.192985 AGTxGAC UNCOVERED NOVEL 0 7 2.407892 KEEP 4 0 0 8 284 GG 0 0 0 4 45 121 0 0 9.980751 13 60 443 48 0.235294 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9563243 9563243 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9563243A>T NA NA None (None upstream) : CR381670.1 (119947 downstream) NA NA NA ctgggattacaggcgtgagtc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9563243A>T NA hg19 0.02 -0.289431 TACxGGC COVERED NOVEL 0 10 2.397582 KEEP 5 0 0 8 230 AA 0.99257 0.775257 0 5 49 150 0 0 11.598177 24 50 718 65 0.172414 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9650085 9650085 __UNKNOWN__ IGR SNP C C G rs71212098 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9650085C>G NA NA None (None upstream) : CR381670.1 (33105 downstream) NA NA NA CTCCTTAATCCACGTCATTTG 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9650085C>G NA hg19 0.02 -0.298268 ATCxACG COVERED NOVEL 0 13 9.329805 KEEP 73 0 0 31 1103 CC 0.997832 0.79851 0 4 52 131 0 0 9.832839 27 60 924 185 0.129032 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9655018 9655018 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9655018C>A NA NA None (None upstream) : CR381670.1 (28172 downstream) NA NA NA tgggttcaagcaattctcttg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9655018C>A NA hg19 0.02 -0.289492 AAGxAAT COVERED NOVEL 0 14 3.611465 KEEP 4 0 0 12 427 CC 0.993072 0.755616 0 3 40 93 0 0 6.806036 21 60 711 64 0.125 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9655673 9655673 __UNKNOWN__ IGR SNP G G C rs374566018 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9655673G>C NA NA None (None upstream) : CR381670.1 (27517 downstream) NA NA NA atggtggtgggtgcctgtagt 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9655673G>C NA hg19 0.02 -0.341374 TGGxTGC COVERED NOVEL 0 20 3.611609 KEEP 6 0 0 12 412 GG 0.993072 0.859748 0 13 60 449 0 0 41.516666 20 60 616 66 0.393939 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9670483 9670483 __UNKNOWN__ IGR SNP C C G rs370346311 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9670483C>G NA NA None (None upstream) : CR381670.1 (12707 downstream) NA NA NA aaaaaccaaaccaaactttag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9670483C>G NA hg19 0.02 -0.28064 AAAxCAA UNCOVERED NOVEL 0 10 2.407713 KEEP 1 0 0 8 273 CC 0 0 0 4 60 139 0 0 10.632933 27 60 875 52 0.129032 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9675930 9675930 __UNKNOWN__ IGR SNP G G A rs371205107 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9675930G>A NA NA None (None upstream) : CR381670.1 (7260 downstream) NA NA NA ggaggctgaggcaggggaatc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9675930G>A NA hg19 0.02 -0.14009 GAGxCAG UNCOVERED NOVEL 0 3 2.407452 KEEP 8 0 0 8 275 GG 0 0 0 4 40 100 0 0 8.265245 10 60 333 44 0.285714 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9676528 9676528 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9676528C>G NA NA None (None upstream) : CR381670.1 (6662 downstream) NA NA NA gtggctcacacctgtaatagc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9676528C>G NA hg19 0.02 1.751371 ACAxCTG COVERED NOVEL 0 14 3.912571 KEEP 15 0 0 13 446 CC 0.993634 0.993258 0 4 60 146 0 0 10.069062 58 60 1947 145 0.064516 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9677152 9677152 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9677152T>C NA NA None (None upstream) : CR381670.1 (6038 downstream) NA NA NA agtgctgggattacaggcgtg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9677152T>C NA hg19 0.02 -0.280348 GGAxTAC UNCOVERED NOVEL 0 8 2.407657 KEEP 5 0 0 8 266 TT 0 0 0 4 40 114 0 0 8.800457 18 55 530 62 0.181818 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9678977 9678977 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9678977A>G NA NA None (None upstream) : CR381670.1 (4213 downstream) NA NA NA aagtgctgggattacaggcgt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9678977A>G NA hg19 0.02 -0.394432 GGGxTTA UNCOVERED NOVEL 0 36 5.11578 KEEP 68 0 0 17 546 AA 0 0 0 4 54 136 0 0 10.007682 33 43 961 177 0.108108 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9698994 9698994 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9698994T>C NA NA CR381670.1 (15722 upstream) : MIR3648 (126837 downstream) NA NA NA cacgcccacatttcagctgga 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9698994T>C NA hg19 0.02 3.642839 ACAxTTC COVERED NOVEL 0 20 4.180983 KEEP 25 2 63 36 1132 TT 0.999999 0.999997 0 5 41 168 1 0 10.684754 90 60 2609 256 0.052632 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9699045 9699045 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9699045A>G NA NA CR381670.1 (15773 upstream) : MIR3648 (126786 downstream) NA NA NA aaactcaccaatttcactcag 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9699045A>G NA hg19 0.02 3.394782 CCAxTTT COVERED NOVEL 0 31 3.368249 KEEP 21 2 71 36 1122 AA 0.999999 0.999998 0 6 29 191 1 0 11.837023 105 60 2991 270 0.054054 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9699568 9699568 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9699568C>A NA NA CR381670.1 (16296 upstream) : MIR3648 (126263 downstream) NA NA NA tcctctcccaccacgcccaga 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9699568C>A NA hg19 0.02 2.898389 CCAxCAC COVERED NOVEL 0 16 3.381772 KEEP 7 2 65 34 1219 CC 0.999999 0.999967 0 6 49 161 0 0 9.830813 71 52 2378 197 0.077922 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9719198 9719198 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9719198C>T NA NA CR381670.1 (35926 upstream) : MIR3648 (106633 downstream) NA NA NA gacggactctcactctgtcat 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9719198C>T NA hg19 0.02 1.22154 TCTxACT UNCOVERED NOVEL 0 25 2.70889 KEEP 27 0 0 9 322 CC 0 0 0 5 48 139 0 0 9.633295 37 48 1232 123 0.119048 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825769 9825769 __UNKNOWN__ IGR SNP C C A rs367745251 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9825769C>A NA NA CR381670.1 (142497 upstream) : MIR3648 (62 downstream) NA NA NA GTGGGCTTCCCGGAGGGTTCC 0.831 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9825769C>A NA hg19 0.02 19.273457 TCCxGGA COVERED NOVEL 0 3 10.332623 KEEP 0 3 96 68 2284 CC 1 1 0 38 60 1022 0 0 55.775257 696 60 21876 1116 0.051771 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9826332 9826332 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9826332G>C NA NA MIR3687 (69 upstream) : TEKT4P2 (80861 downstream) NA NA NA gcccgggccggggcctcggcc 0.811 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9826332G>C NA hg19 0.02 25.52172 CCGxGGC COVERED NOVEL 0 4 31.916161 KEEP 0 16 483 276 9114 GG 1 1 0 29 60 893 0 2 48.638677 801 60 25864 1367 0.03494 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9844256 9844256 __UNKNOWN__ IGR SNP G G C rs71223282 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9844256G>C NA NA MIR3687 (17993 upstream) : TEKT4P2 (62937 downstream) NA NA NA ggttgaggcagaaggattgct 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9844256G>C NA hg19 0.02 -0.184223 GCAxAAG COVERED NOVEL 0 12 2.708849 KEEP 1 0 0 9 321 GG 0.99254 0.420319 0 3 60 99 0 0 7.891471 14 60 475 43 0.176471 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9846721 9846721 __UNKNOWN__ IGR SNP A A G rs374708734 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9846721A>G NA NA MIR3687 (20458 upstream) : TEKT4P2 (60472 downstream) NA NA NA tttagtagagatgggttttca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9846721A>G NA hg19 0.02 -0.1754 GAGxTGG COVERED NOVEL 0 6 3.896181 KEEP 0 0 0 13 389 AA 0.994391 0.385234 0 6 60 203 1 0 18.017786 13 60 375 37 0.315789 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9846762 9846762 __UNKNOWN__ IGR SNP G G A rs76563334 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9846762G>A NA NA MIR3687 (20499 upstream) : TEKT4P2 (60431 downstream) NA NA NA tcaatctcctgacctcgtgat 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9846762G>A NA hg19 0.02 -0.333254 CCTxACC COVERED NOVEL 0 6 3.611872 KEEP 0 0 0 12 433 GG 0.993634 0.860234 0 5 60 138 0 0 10.16674 27 60 894 72 0.15625 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9851921 9851921 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9851921T>A NA NA MIR3687 (25658 upstream) : TEKT4P2 (55272 downstream) NA NA NA ctgggattactggcatgagcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9851921T>A NA hg19 0.02 -0.376699 TACxGGC COVERED NOVEL 0 9 3.912091 KEEP 1 0 0 13 415 TT 0.994391 0.91302 0 4 60 123 0 0 8.921047 29 60 846 82 0.121212 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9858073 9858073 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9858073G>T NA NA MIR3687 (31810 upstream) : TEKT4P2 (49120 downstream) NA NA NA ACGGGGTTAAGGCAAAGGGGA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9858073G>T NA hg19 0.02 1.502509 TAAxGCA COVERED NOVEL 0 0 3.64537 KEEP 0 1 28 22 774 GG 0.999892 0.994976 0 5 60 155 0 0 10.201494 61 60 2056 120 0.075758 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9866834 9866834 __UNKNOWN__ IGR SNP A A C rs74576751 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9866834A>C NA NA MIR3687 (40571 upstream) : TEKT4P2 (40359 downstream) NA NA NA catgcaccacaacacctggct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9866834A>C NA hg19 0.02 1.53807 CACxACA COVERED NOVEL 0 46 7.822596 KEEP 2 0 0 26 813 AA 0.999957 0.999896 0 4 58 134 0 0 8.706172 64 60 1899 139 0.058824 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9886244 9886244 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9886244A>G NA NA MIR3687 (59981 upstream) : TEKT4P2 (20949 downstream) NA NA NA gggtttcaccatgttagccag 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9886244A>G NA hg19 0.02 -0.341418 ACCxTGT COVERED NOVEL 0 8 4.20716 KEEP 5 0 0 14 399 AA 0.994391 0.860889 0 4 60 100 0 0 6.576016 30 60 846 70 0.117647 0.865745 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9909043 9909043 __UNKNOWN__ RNA SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9909043C>G ENST00000416067.1 - 0 360 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA TCAGGGTGCCCCACCTTGTGC 0.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0 1 1 NA NA NA 21 NA NA 9909043 0 1 1 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9909043C>G NA hg19 0.02 3.464397 GCCxCAC COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 0 7.760945 KEEP 0 1 35 38 1326 CC 1 1 0 - 16 60 471 0 0 34.41603 102 60 3342 219 ENST00000416067.1 0.135593 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9909122 9909122 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9909122G>A ENST00000416067.1 - 0 284 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA CCAGGTTCACGGCGTCACACT 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9909122G>A NA hg19 0.02 11.974929 CACxGCG COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 2 10.065044 KEEP 0 5 164 91 2931 GG 1 1 0 - 23 60 662 0 0 39.697721 357 60 11499 680 ENST00000416067.1 0.060526 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9910339 9910339 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9910339A>G ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA GTGACCTGGGACAGCCCCTGC 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9910339A>G NA hg19 0.02 1.58211 GGGxCAG COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 0 3.948188 KEEP 1 1 37 26 834 AA 0.999957 0.999838 0 - 6 57 202 0 0 13.714572 77 60 2310 183 ENST00000416067.1 0.072289 0.999881 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9911003 9911003 __UNKNOWN__ RNA SNP G G A rs368106393 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9911003G>A ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA TCTGTGTGTAGGAACAAGCCT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9911003G>A NA hg19 0.02 -0.289471 GTAxGAA COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 3 5.417828 KEEP 4 0 0 18 656 GG 0.999366 0.760405 0 - 3 49 89 0 0 6.465636 20 60 672 57 ENST00000416067.1 0.130435 0.760887 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9911147 9911147 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9911147C>T ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA TTCGCAGGCACCCTTGTTGCA 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9911147C>T NA hg19 0.02 7.361957 GCAxCCT COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 5 8.405672 KEEP 7 5 141 78 2623 CC 1 1 0 - 15 60 427 0 0 25.82895 215 60 7058 471 ENST00000416067.1 0.065217 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9912192 9912192 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9912192C>T ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA GCTGTGCCAGCGTCTGGGTCT 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9912192C>T NA hg19 0.02 11.111722 CAGxGTC COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 0 5.902753 KEEP 2 6 183 84 2838 CC 1 1 0 - 19 60 546 0 0 33.189483 273 60 8999 735 ENST00000416067.1 0.065068 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9943638 9943638 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9943638G>A ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA ggccgggcttggtggctcacg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9943638G>A NA hg19 0.02 2.560844 CTTxGTG COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 25 5.417614 KEEP 10 0 0 18 635 GG 0.999859 0.999857 0 - 7 60 206 0 2 13.098505 88 60 2967 211 ENST00000416067.1 0.073684 0.999998 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9943679 9943679 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9943679G>A ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA ggaggccaaggcacgtggatc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9943679G>A NA hg19 0.02 2.813082 AAGxCAC COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 35 2.543528 KEEP 8 1 33 20 713 GG 0.999863 0.999862 0 - 6 60 181 0 0 11.254614 89 60 3036 237 ENST00000416067.1 0.063158 0.999999 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9943708 9943708 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9943708G>A ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA aggaatttgagaccagcctgg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9943708G>A NA hg19 0.02 2.889719 TGAxACC COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 27 4.815475 KEEP 4 0 0 16 549 GG 0.99649 0.996468 0 - 10 60 262 0 0 17.958783 69 60 2287 170 ENST00000416067.1 0.126582 0.999978 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9946846 9946846 __UNKNOWN__ RNA SNP T T A rs377492989 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9946846T>A ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA cagatgatcctcccgcctcgg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9946846T>A NA hg19 0.02 -0.315683 TCCxCCC UNCOVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 22 2.407364 KEEP 46 0 0 8 252 TT 0 0 0 - 5 48 130 0 0 9.955543 20 46 615 140 ENST00000416067.1 0.2 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9987500 9987500 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9987500G>A NA NA TEKT4P2 (18915 upstream) : CR381653.1 (212442 downstream) NA NA NA ggcggaggttgcagtgagccg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9987500G>A NA hg19 0.02 -0.280685 GTTxCAG COVERED NOVEL 0 17 2.997643 KEEP 10 0 0 10 338 GG 0.992708 0.734278 0 6 49 169 0 0 13.552706 21 60 698 69 0.222222 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9987526 9987526 __UNKNOWN__ IGR SNP A A G rs372987278 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:9987526A>G NA NA TEKT4P2 (18941 upstream) : CR381653.1 (212416 downstream) NA NA NA gtaccaccatactccatcctg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9987526A>G NA hg19 0.02 -0.332869 CATxCTC COVERED NOVEL 0 21 3.309387 KEEP 10 0 0 11 325 AA 0.993072 0.846082 0 4 21 110 0 0 7.584305 30 60 806 74 0.117647 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10000476 10000476 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10000476C>T NA NA TEKT4P2 (31891 upstream) : CR381653.1 (199466 downstream) NA NA NA ggactacaggcgtgtgccacc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10000476C>T NA hg19 0.02 1.464855 AGGxGTG COVERED NOVEL 0 17 3.611515 KEEP 7 0 0 12 418 CC 0.992708 0.982326 0 12 60 349 0 0 29.159552 34 60 1103 106 0.26087 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10000504 10000504 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10000504G>C NA NA TEKT4P2 (31919 upstream) : CR381653.1 (199438 downstream) NA NA NA gctaatttttgtatttttagt 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10000504G>C NA hg19 0.02 -0.429831 TTTxTAT COVERED NOVEL 0 18 3.912915 KEEP 14 0 0 13 472 GG 0.99254 0.947371 0 3 60 106 0 0 7.307653 40 60 1328 99 0.069767 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10000532 10000532 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10000532G>A NA NA TEKT4P2 (31947 upstream) : CR381653.1 (199410 downstream) NA NA NA gggtttcaccgtgttagccag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10000532G>A NA hg19 0.02 -0.263109 ACCxTGT UNCOVERED NOVEL 0 15 3.310612 KEEP 21 0 0 11 378 GG 0 0 0 6 59 169 0 0 13.902075 18 60 587 81 0.25 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10019942 10019942 __UNKNOWN__ IGR SNP T T A rs368537980 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10019942T>A NA NA TEKT4P2 (51357 upstream) : CR381653.1 (180000 downstream) NA NA NA aaccttactctgttgcccagg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10019942T>A NA hg19 0.02 -0.28066 CTCxGTT UNCOVERED NOVEL 0 24 3.610244 KEEP 58 0 0 12 361 TT 0 0 0 3 60 93 0 0 6.806083 21 60 634 119 0.125 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10020071 10020071 __UNKNOWN__ IGR SNP T T C rs367980875 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10020071T>C NA NA TEKT4P2 (51486 upstream) : CR381653.1 (179871 downstream) NA NA NA cacactcagataatttttgta 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10020071T>C NA hg19 0.02 1.792332 AGAxAAT COVERED NOVEL 0 32 9.026739 KEEP 39 0 0 30 914 TT 0.99986 0.995547 0 4 41 133 0 1 8.954433 52 60 1439 164 0.071429 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10029670 10029670 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10029670A>C NA NA TEKT4P2 (61085 upstream) : CR381653.1 (170272 downstream) NA NA NA tggacacaggaagaggaacag 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10029670A>C NA hg19 0.02 -0.166622 AGGxAGA COVERED NOVEL 0 4 2.407318 KEEP 1 0 0 8 252 AA 0.99257 0.351317 0 3 50 109 0 0 8.978983 13 60 367 38 0.1875 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10085698 10085698 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10085698G>C NA NA TEKT4P2 (117113 upstream) : CR381653.1 (114244 downstream) NA NA NA gaaaggagtggaatggaatgg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10085698G>C NA hg19 0.02 5.743095 GTGxAAT COVERED NOVEL 0 62 16.854551 KEEP 22 0 0 56 1963 GG 1 1 0 5 40 169 0 0 12.370916 42 60 1357 319 0.106383 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10119731 10119731 __UNKNOWN__ IGR SNP G G A rs370401827 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10119731G>A NA NA TEKT4P2 (151146 upstream) : CR381653.1 (80211 downstream) NA NA NA ttgtgccactgcactccagcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10119731G>A NA hg19 0.02 1.428294 ACTxCAC COVERED NOVEL 0 19 4.514864 KEEP 11 0 0 15 542 GG 0.994391 0.965375 0 12 47 336 0 0 28.580159 29 48 919 98 0.292683 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10139757 10139757 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10139757C>A NA NA TEKT4P2 (171172 upstream) : CR381653.1 (60185 downstream) NA NA NA ccacttcacacctctatattt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10139757C>A NA hg19 0.02 -0.421064 ACAxCTC COVERED NOVEL 0 1 5.116657 KEEP 3 0 0 17 605 CC 0.999366 0.947801 0 4 60 112 0 0 7.338068 39 60 1322 98 0.093023 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10139844 10139844 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10139844C>T NA NA TEKT4P2 (171259 upstream) : CR381653.1 (60098 downstream) NA NA NA gcaagtggtgcccattcatgg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10139844C>T NA hg19 0.02 1.733437 GTGxCCA COVERED NOVEL 0 7 5.417806 KEEP 3 0 0 18 650 CC 0.999366 0.966812 0 4 60 124 0 0 8.371575 43 60 1449 104 0.085106 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10145080 10145080 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10145080G>T NA NA TEKT4P2 (176495 upstream) : CR381653.1 (54862 downstream) NA NA NA cgattatcctgcctcagcctc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10145080G>T NA hg19 0.02 1.429916 CCTxCCT COVERED NOVEL 0 23 2.741283 KEEP 42 1 28 19 674 GG 0.997832 0.990773 0 10 48 265 1 0 20.316219 41 60 1385 159 0.196078 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10145258 10145258 __UNKNOWN__ IGR SNP G G T rs374730021 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10145258G>T NA NA TEKT4P2 (176673 upstream) : CR381653.1 (54684 downstream) NA NA NA atgagccactgcacctggtct 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10145258G>T NA hg19 0.02 1.698336 ACTxCAC COVERED NOVEL 0 17 2.742422 KEEP 7 1 25 18 636 GG 0.999366 0.983538 0 4 50 122 0 0 8.291557 40 60 1329 109 0.090909 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10146693 10146693 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10146693A>G NA NA TEKT4P2 (178108 upstream) : CR381653.1 (53249 downstream) NA NA NA tgtaatcccaacactttggaa 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10146693A>G NA hg19 0.02 1.789844 CCAxCAC COVERED NOVEL 0 38 8.425649 KEEP 17 0 0 28 892 AA 0.999957 0.999819 0 8 27 276 0 0 21.315026 50 60 1508 181 0.137931 0.999862 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10146726 10146726 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10146726G>A NA NA TEKT4P2 (178141 upstream) : CR381653.1 (53216 downstream) NA NA NA tggctcacccgaggtcaggag 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10146726G>A NA hg19 0.02 1.068033 CCCxAGG COVERED NOVEL 0 44 8.727729 KEEP 23 0 0 29 979 GG 0.999931 0.999838 0 5 49 127 1 0 7.51928 61 60 1949 188 0.075758 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10146755 10146755 __UNKNOWN__ IGR SNP A A T rs374386947 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10146755A>T NA NA TEKT4P2 (178170 upstream) : CR381653.1 (53187 downstream) NA NA NA cagcctgatcaacatggtgaa 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10146755A>T NA hg19 0.02 1.190892 ATCxACA COVERED NOVEL 0 35 5.114257 KEEP 28 0 0 17 503 AA 0.994391 0.993801 0 5 27 145 0 0 9.240699 60 60 1654 152 0.076923 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10168525 10168525 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10168525G>A NA NA TEKT4P2 (199940 upstream) : CR381653.1 (31417 downstream) NA NA NA gtgtggtggcgggtgcctgta 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10168525G>A NA hg19 0.02 -0.298224 GGCxGGT COVERED NOVEL 0 8 2.407566 KEEP 1 0 0 8 264 GG 0.99257 0.775257 0 4 27 121 1 0 9.091792 23 51 721 58 0.148148 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10211923 10211923 __UNKNOWN__ IGR SNP C C T rs373563533 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10211923C>T NA NA CR381653.1 (11898 upstream) : RN7SL52P (168456 downstream) NA NA NA attacaggtgcccaccaccac 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10211923C>T NA hg19 0.02 -0.140351 GTGxCCA UNCOVERED NOVEL 0 3 2.345658 KEEP 14 0 0 8 254 CC 0 0 0 3 52 88 0 0 6.87903 13 53 433 46 0.1875 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10517433 10517433 __UNKNOWN__ IGR SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10517433G>T NA NA SNORA70 (131386 upstream) : IGHV1OR21-1 (345188 downstream) NA NA NA atgcctgtaagcccagcactt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10517433G>T NA hg19 0.02 -0.350782 TAAxCCC COVERED NOVEL 0 12 2.407673 KEEP 0 0 0 8 287 GG 0.99257 0.871187 0 4 60 100 0 0 6.810724 26 60 880 66 0.133333 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10793969 10793969 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10793969A>G NA NA SNORA70 (407922 upstream) : IGHV1OR21-1 (68652 downstream) NA NA NA cttgaatggaatggactcgaa 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10793969A>G NA hg19 0.02 9.707307 GGAxTGG COVERED NOVEL 0 71 21.122138 KEEP 2 8 292 172 5153 AA 1 1 0 9 60 284 0 1 17.018574 184 70 5256 587 0.046632 1 TPTE 7179 __UNKNOWN__ __UNKNOWN__ 21 10943038 10943038 __UNKNOWN__ Intron SNP C C A rs2020014 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:10943038C>A ENST00000361285.4 - 12 896 TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron NM_199261.2 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAAATTTAAACGATCCATTTT 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 43 40 41 NA NA NA 21 NA NA 10943038 2203 4298 6501 SO:0001627 intron_variant AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs 12023 protein-coding gene gene with protein product PTEN-related tyrosine phosphatase, cancer/testis antigen 44 604336 NA 10830953, 14659893 Standard NM_001290224 NA Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000361285.4:c.567-18G>T chr21.hg19:g.10943038C>A NA B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 hg19 CCDS13560.2 0.02 1.634098 AAAxGAT COVERED NOVEL TPTE-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000157413.1 0 2.850523 KEEP 0 2 67 33 1130 CC 0.999999 0.967424 0 - 12 60 369 0 0 30.542375 39 60 1299 133 ENST00000361285.4 0.235294 0.967425 TPTE 7179 __UNKNOWN__ __UNKNOWN__ 21 11021787 11021787 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11021787C>A ENST00000415664.2 - 3 239 BAGE2_ENST00000470054.1_RNA P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ctcattgcaacctctgcctcc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs 12023 protein-coding gene gene with protein product PTEN-related tyrosine phosphatase, cancer/testis antigen 44 604336 NA 10830953, 14659893 Standard NM_001290224 NA Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000415664.2:c.3098-576G>T chr21.hg19:g.11021787C>A NA B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 hg19 0.02 -0.280719 CAAxCTC COVERED NOVEL TPTE-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000340030.1 6 2.706681 KEEP 2 0 0 9 314 CC 0.99254 0.734154 0 - 4 60 123 0 0 9.362185 22 60 755 67 ENST00000415664.2 0.153846 0.739671 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11039406 11039406 __UNKNOWN__ RNA SNP T T C rs8134740 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11039406T>C ENST00000470054.1 - 0 797 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCATTAGAAATCTGTTTTTCC 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11039406T>C NA A8K925|Q08ER0 hg19 0.02 3.873854 AAAxCTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 7.178995 KEEP 0 2 66 47 1490 TT 1 0.999978 0 - 6 60 197 0 0 12.688494 95 60 2857 187 ENST00000470054.1 0.059406 0.999978 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11040222 11040222 __UNKNOWN__ RNA SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11040222G>A ENST00000470054.1 - 0 774 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cagaaacatggctcactgcag 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11040222G>A NA A8K925|Q08ER0 hg19 0.02 -0.342087 ATGxCTC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 9 2.708847 KEEP 0 0 0 9 320 GG 0.99254 0.859287 0 - 6 60 170 0 0 12.668939 32 60 1067 68 ENST00000470054.1 0.157895 0.865745 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11040238 11040238 __UNKNOWN__ RNA SNP A A T rs12162513 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11040238A>T ENST00000470054.1 - 0 774 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tgcagcctcaacctcctgggc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11040238A>T NA A8K925|Q08ER0 hg19 0.02 -0.350752 TCAxCCT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 2.40722 KEEP 0 0 0 8 253 AA 0.99257 0.871187 0 - 7 60 213 0 0 16.672754 32 60 936 70 ENST00000470054.1 0.179487 0.877708 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11043340 11043340 __UNKNOWN__ RNA SNP C C T rs28707732 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11043340C>T ENST00000470054.1 - 0 774 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccacacccggcctagggagta 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11043340C>T NA A8K925|Q08ER0 hg19 0.02 1.558177 CGGxCTA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 28 5.417709 KEEP 1 0 0 18 640 CC 0.999859 0.997413 0 - 7 60 213 1 0 15.259973 53 60 1743 118 ENST00000470054.1 0.116667 0.997553 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11056085 11056085 __UNKNOWN__ RNA SNP G G A rs28678750 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11056085G>A ENST00000470054.1 - 0 487 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tccaggcagggtgacagagcg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11056085G>A NA A8K925|Q08ER0 hg19 0.02 -0.421034 AGGxTGA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 22 4.213574 KEEP 2 0 0 14 477 GG 0.995343 0.950046 0 - 5 60 149 0 0 10.744681 35 60 1151 79 ENST00000470054.1 0.125 0.954491 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058248 11058248 __UNKNOWN__ RNA SNP G G A rs8130203 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11058248G>A ENST00000470054.1 - 0 399 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 80 67 71 NA NA NA 21 NA NA 11058248 692 1591 2283 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058248G>A NA A8K925|Q08ER0 hg19 0.02 7.549812 AAGxATA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 12 24.489212 KEEP 101 12 369 211 7249 GG 1 1 0 - 14 50 424 0 0 25.505374 243 60 7972 756 ENST00000470054.1 0.054475 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058330 11058330 __UNKNOWN__ RNA SNP G G A rs138162498 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11058330G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCGCTGAAAGGGGTAAAGGA 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 72 55 60 NA NA NA 21 NA NA 11058330 692 1591 2283 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058330G>A NA A8K925|Q08ER0 hg19 0.02 6.867546 AAAxGGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 10 23.545813 KEEP 4 8 256 168 5810 GG 1 1 0 - 12 49 334 0 0 18.031964 250 52 8246 572 ENST00000470054.1 0.045802 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11059849 11059849 __UNKNOWN__ RNA SNP G G T rs11183999 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11059849G>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gccggacgtggtggcaggcac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11059849G>T NA A8K925|Q08ER0 hg19 0.02 10.440362 GTGxTGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 66 29.85599 KEEP 4 2 59 120 4145 GG 1 1 0 - 21 60 600 1 0 38.598828 233 60 7771 710 ENST00000470054.1 0.082677 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11059861 11059861 __UNKNOWN__ RNA SNP T T G rs2775351 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11059861T>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ggcaggcacctgtagtcccag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11059861T>G NA A8K925|Q08ER0 hg19 0.02 15.053117 ACCxGTA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 88 34.679623 KEEP 4 2 41 130 4114 TT 1 1 0 - 13 60 440 1 0 26.608018 307 60 9408 858 ENST00000470054.1 0.040625 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11059897 11059897 __UNKNOWN__ RNA SNP A A G rs6582758 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11059897A>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aagcaggagaaGCTTCTAAAT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11059897A>G NA A8K925|Q08ER0 hg19 0.02 16.094123 AGAxGCT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 103 32.976203 KEEP 5 2 79 137 4437 AA 1 1 0 - 18 60 632 1 0 41.086784 328 60 9946 963 ENST00000470054.1 0.052023 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11059912 11059912 __UNKNOWN__ RNA SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11059912C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTAAATAACTCATAAACACTA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11059912C>T NA A8K925|Q08ER0 hg19 0.02 10.13067 ACTxATA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 99 37.657996 KEEP 2 1 28 135 4882 CC 1 1 0 - 13 60 376 1 0 19.649521 342 60 11586 892 ENST00000470054.1 0.03662 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11059982 11059982 __UNKNOWN__ RNA SNP A A G rs75720212 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11059982A>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATAACATTTCAGTGCTATTTT 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11059982A>G NA A8K925|Q08ER0 hg19 0.02 1.897608 TTCxGTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 6 3.536359 KEEP 0 1 38 25 738 AA 0.999957 0.979484 0 - 4 60 136 0 0 9.254142 52 60 1455 85 ENST00000470054.1 0.071429 0.979526 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11060995 11060995 __UNKNOWN__ RNA SNP C C T rs370059582 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11060995C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ctcaggagttcgaaaccagcc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11060995C>T NA A8K925|Q08ER0 hg19 0.02 1.494352 GTTxGAA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 17 9.629971 KEEP 6 0 0 32 1066 CC 0.999997 0.995684 0 - 5 60 145 0 0 10.345715 35 60 1073 151 ENST00000470054.1 0.125 0.995687 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11064794 11064794 __UNKNOWN__ RNA SNP C C G rs2775357 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11064794C>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gaggccaaggcaggaggatca 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11064794C>G NA A8K925|Q08ER0 hg19 0.02 1.721944 AGGxAGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 16 6.922818 KEEP 1 0 0 23 838 CC 0.999892 0.998588 0 - 4 60 132 0 0 8.480544 65 60 2259 152 ENST00000470054.1 0.057971 0.998696 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11072316 11072316 __UNKNOWN__ RNA SNP C C T rs369987885 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11072316C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agttcgagaccagcctggcca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11072316C>T NA A8K925|Q08ER0 hg19 0.02 -0.315758 GACxAGC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 16 3.310941 KEEP 2 0 0 11 403 CC 0.993072 0.829926 0 - 5 60 140 0 0 10.441392 26 60 874 70 ENST00000470054.1 0.16129 0.835716 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11075001 11075001 __UNKNOWN__ RNA SNP G G A rs79202507 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11075001G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) attttaaagggtaaagatata 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11075001G>A NA A8K925|Q08ER0 hg19 0.02 1.707134 AGGxTAA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 13 3.310779 KEEP 1 0 0 11 388 GG 0.993072 0.970098 0 - 5 60 148 1 0 10.424952 39 60 1313 89 ENST00000470054.1 0.113636 0.976865 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11079846 11079846 __UNKNOWN__ RNA SNP C C T rs12185814 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11079846C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tgtgggagtccaaggcaggaa 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11079846C>T NA A8K925|Q08ER0 hg19 0.02 -0.368427 GTCxAAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 10 4.204406 KEEP 0 0 0 14 497 CC 0.995343 0.904836 0 - 6 60 177 0 0 13.683942 28 60 961 92 ENST00000470054.1 0.176471 0.909069 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11079888 11079888 __UNKNOWN__ RNA SNP G G A rs2257261 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11079888G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gaccagcctggtcaacatggt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11079888G>A NA A8K925|Q08ER0 hg19 0.02 -0.429811 CTGxTCA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 15 4.213493 KEEP 0 0 0 14 482 GG 0.995343 0.950046 0 - 4 60 116 0 0 8.008515 33 60 1091 85 ENST00000470054.1 0.108108 0.954491 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11079918 11079918 __UNKNOWN__ RNA SNP A A T rs111989271 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11079918A>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tctctactaaatatacaaaaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11079918A>T NA A8K925|Q08ER0 hg19 0.02 -0.438403 TAAxTAT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 17 4.814467 KEEP 0 0 0 16 495 AA 0.997832 0.957778 0 - 3 60 97 1 0 6.612752 34 60 945 80 ENST00000470054.1 0.081081 0.959859 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080090 11080090 __UNKNOWN__ RNA SNP G G A rs67519528 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11080090G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGTGGGGGGGGACCTGTTAA 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080090G>A NA A8K925|Q08ER0 hg19 0.02 -0.403476 GGGxGAC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 23 2.708742 KEEP 0 0 0 9 311 GG 0.99254 0.927521 0 - 5 60 149 1 0 11.122701 29 60 930 70 ENST00000470054.1 0.147059 0.934492 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080207 11080207 __UNKNOWN__ RNA SNP C C T rs2986774 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11080207C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gggtggatcacctgaggtcag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080207C>T NA A8K925|Q08ER0 hg19 0.02 -0.31575 TCAxCTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 9 2.407835 KEEP 1 0 0 8 279 CC 0.99257 0.812384 0 - 6 60 172 0 0 13.102177 29 60 974 61 ENST00000470054.1 0.171429 0.818465 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080699 11080699 __UNKNOWN__ RNA SNP G G A rs11184036 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11080699G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGGAAGACAGggcagggcaca 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080699G>A NA A8K925|Q08ER0 hg19 0.02 -0.385619 CAGxGCA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 17 2.708765 KEEP 2 0 0 9 311 GG 0.99254 0.911321 0 - 4 60 115 0 0 7.962315 32 60 1040 63 ENST00000470054.1 0.111111 0.918171 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11081200 11081200 __UNKNOWN__ RNA SNP G G A rs10446198 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11081200G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gccgaggcaggcagatcacct 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11081200G>A NA A8K925|Q08ER0 hg19 0.02 -0.411927 CAGxCAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 18 3.31076 KEEP 2 0 0 11 387 GG 0.993072 0.935217 0 - 6 60 166 0 0 12.347604 31 60 996 78 ENST00000470054.1 0.162162 0.941741 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11081219 11081219 __UNKNOWN__ RNA SNP G G T rs10446199 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11081219G>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ctgaggtcaggagttcaagcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11081219G>T NA A8K925|Q08ER0 hg19 0.02 -0.263153 CAGxAGT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 13 2.407654 KEEP 3 0 0 8 267 GG 0.99257 0.734176 0 - 3 60 88 0 0 6.365801 20 60 659 59 ENST00000470054.1 0.130435 0.739671 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11087083 11087083 __UNKNOWN__ RNA SNP G G A rs383412 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11087083G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cacccagcccgggcgacagaa 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11087083G>A NA A8K925|Q08ER0 hg19 0.02 -0.394709 CCCxGGC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 11 3.009899 KEEP 1 0 0 10 359 GG 0.992708 0.919883 0 - 10 60 296 0 0 24.360941 32 60 1066 79 ENST00000470054.1 0.238095 0.92664 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11089399 11089399 __UNKNOWN__ RNA SNP G G A rs2979606 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11089399G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tgtgccagtagtcccagctac 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11089399G>A NA A8K925|Q08ER0 hg19 0.02 1.436043 GTAxTCC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 12 3.310969 KEEP 2 0 0 11 403 GG 0.993072 0.960723 0 - 4 49 119 0 0 8.120524 37 60 1244 83 ENST00000470054.1 0.097561 0.967425 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11090141 11090141 __UNKNOWN__ RNA SNP C C T rs528274530 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11090141C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccactgcgcccggccAAGTGT 0.478 NA c||| 74 0.0147764 0.0015 0.0014 5008 , , NA 25637 0.004 NA 0.0437 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11090141C>T NA A8K925|Q08ER0 hg19 0.02 1.429712 GCCxGGC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 12 2.642622 KEEP 0 1 29 19 648 CC 0.999863 0.992789 0 - 8 60 241 0 0 17.881108 49 60 1594 121 ENST00000470054.1 0.140351 0.992926 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11091890 11091890 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11091890A>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tcaggagttcaagaccagcct 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11091890A>G NA A8K925|Q08ER0 hg19 0.02 -0.324495 TTCxAGA UNCOVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 11 2.405213 KEEP 3 0 0 8 234 AA 0 0 0 - 3 60 96 0 0 6.587829 32 60 940 68 ENST00000470054.1 0.085714 0.835716 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11092373 11092373 __UNKNOWN__ RNA SNP G G A rs2775393 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11092373G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gtagagacagggttttgccat 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11092373G>A NA A8K925|Q08ER0 hg19 0.02 -0.149021 CAGxGTT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 2.406956 KEEP 0 0 0 8 264 GG 0.99257 0.289832 0 - 4 60 113 0 0 9.572587 10 60 314 32 ENST00000470054.1 0.285714 0.292001 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11092626 11092626 __UNKNOWN__ RNA SNP G G A rs201009877 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11092626G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccacaccgggctaatttt 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11092626G>A NA A8K925|Q08ER0 hg19 0.02 -0.201742 ACCxGGC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 10 3.610316 KEEP 13 0 0 12 380 GG 0.992708 0.518353 0 - 4 60 117 0 0 9.169145 17 60 555 62 ENST00000470054.1 0.190476 0.522161 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11093951 11093951 __UNKNOWN__ RNA SNP G G A rs370989695 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11093951G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cttgagccagggaggctgagg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11093951G>A NA A8K925|Q08ER0 hg19 0.02 1.365854 CAGxGAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 15 3.611893 KEEP 2 0 0 12 433 GG 0.993072 0.981099 0 - 5 60 155 0 0 10.655121 49 60 1659 116 ENST00000470054.1 0.092593 0.987943 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11093990 11093990 __UNKNOWN__ RNA SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11093990A>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcatcactgcactccagcctg 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11093990A>C NA A8K925|Q08ER0 hg19 0.02 1.681857 TGCxCTC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 15 3.609969 KEEP 1 0 0 12 355 AA 0.993072 0.981099 0 - 5 60 138 0 0 9.116931 49 60 1387 98 ENST00000470054.1 0.092593 0.987943 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11094906 11094906 __UNKNOWN__ RNA SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11094906A>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aagaagcaaaactccgtctca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11094906A>C NA A8K925|Q08ER0 hg19 0.02 1.59084 AAAxCTC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 18 4.513212 KEEP 2 0 0 15 470 AA 0.99649 0.996372 0 - 6 60 204 0 0 14.261774 67 60 1838 163 ENST00000470054.1 0.082192 0.999881 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11096532 11096532 __UNKNOWN__ RNA SNP G G T rs376210136|rs368377047 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11096532G>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gttttgttttgtttttgagac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11096532G>T NA A8K925|Q08ER0 hg19 0.02 1.313225 TTTxTTT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 13 3.611851 KEEP 0 0 0 12 427 GG 0.993634 0.988091 0 - 8 60 226 0 1 16.318103 50 60 1689 111 ENST00000470054.1 0.137931 0.994422 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11096646 11096646 __UNKNOWN__ RNA SNP A A T rs10433161 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11096646A>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tcagtctcccaagtagctggg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11096646A>T NA A8K925|Q08ER0 hg19 0.02 -0.40335 CCCxAGT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 11 3.605919 KEEP 1 0 0 12 356 AA 0.993072 0.941832 0 - 6 60 182 0 0 13.654091 35 60 965 74 ENST00000470054.1 0.146341 0.948402 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11097097 11097097 __UNKNOWN__ RNA SNP T T G rs412956 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11097097T>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) accactgcactcaagcctggg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11097097T>G NA A8K925|Q08ER0 hg19 0.02 -0.289441 CACxCAA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 2.70847 KEEP 10 0 0 9 291 TT 0.99254 0.755211 0 - 6 40 197 0 0 15.949381 25 60 754 71 ENST00000470054.1 0.193548 0.760887 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11098595 11098595 __UNKNOWN__ RNA SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11098595A>T ENST00000470054.1 - 0 223 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agcgttgggcacagtccccac 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11098595A>T NA A8K925|Q08ER0 hg19 0.02 0.986757 GGCxCAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 1 11.133269 KEEP 1 0 0 37 1150 AA 0.999999 0.99988 0 - 10 60 281 0 0 19.852745 69 60 2046 149 ENST00000470054.1 0.126582 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11100840 11100840 __UNKNOWN__ IGR SNP G G A rs10433169 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11100840G>A NA NA BAGE2 (1915 upstream) : AP003900.6 (68947 downstream) NA NA NA tccacctcccgggttcaagcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11100840G>A NA hg19 0.02 -0.394717 CCCxGGT COVERED NOVEL 0 12 2.708747 KEEP 1 0 0 9 311 GG 0.99254 0.927521 0 4 60 115 0 0 7.812699 35 60 1109 70 0.102564 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11100967 11100967 __UNKNOWN__ IGR SNP G G A rs139889890 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11100967G>A NA NA BAGE2 (2042 upstream) : AP003900.6 (68820 downstream) NA NA NA ggctggtcccgacctctgttg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11100967G>A NA hg19 0.02 -0.38588 CCCxACC COVERED NOVEL 0 11 3.310627 KEEP 3 0 0 11 374 GG 0.993072 0.91181 0 6 44 166 0 0 12.273166 32 60 1001 85 0.157895 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11106275 11106275 __UNKNOWN__ IGR SNP T T C rs370330490 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11106275T>C NA NA BAGE2 (7350 upstream) : AP003900.6 (63512 downstream) NA NA NA tcacctgaggtcaggagtttg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11106275T>C NA hg19 0.02 -0.245534 AGGxCAG COVERED NOVEL 0 8 2.40723 KEEP 1 0 0 8 249 TT 0.99257 0.636582 0 3 60 94 0 0 6.906998 21 60 602 54 0.125 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11106478 11106478 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11106478G>A NA NA BAGE2 (7553 upstream) : AP003900.6 (63309 downstream) NA NA NA ccgagatcgcgccattgcact 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11106478G>A NA hg19 0.02 1.358151 CGCxCCA COVERED NOVEL 0 8 3.612003 KEEP 1 0 0 12 445 GG 0.993634 0.983243 0 6 60 151 0 0 9.810717 48 60 1556 102 0.111111 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11107838 11107838 __UNKNOWN__ IGR SNP G G T rs143703727 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11107838G>T NA NA BAGE2 (8913 upstream) : AP003900.6 (61949 downstream) NA NA NA agcctgggaggttgaggctgc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11107838G>T NA hg19 0.02 1.534997 GAGxTTG COVERED NOVEL 0 15 2.407596 KEEP 0 0 0 8 271 GG 0.99257 0.960237 0 4 60 119 0 0 8.518993 29 60 961 84 0.121212 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11108375 11108375 __UNKNOWN__ IGR SNP A A G rs79149489 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11108375A>G NA NA BAGE2 (9450 upstream) : AP003900.6 (61412 downstream) NA NA NA aatcacttgaacccagaaggc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11108375A>G NA hg19 0.02 -0.228029 TGAxCCC COVERED NOVEL 0 3 2.705965 KEEP 0 0 0 9 272 AA 0.99254 0.578582 0 3 60 110 0 0 8.99169 14 60 407 54 0.176471 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11108574 11108574 __UNKNOWN__ IGR SNP G G C rs4913778 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11108574G>C NA NA BAGE2 (9649 upstream) : AP003900.6 (61213 downstream) NA NA NA tgaggtgtgaggatcacccca 0.428 NA g||| 1835 0.366414 0.2065 0.4078 5008 , , NA 28730 0.4524 NA 0.4095 False NA ,,, NA NA NA 2504 0.4202 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11108574G>C NA hg19 0.02 1.642929 TGAxGAT COVERED NOVEL 0 21 6.016855 KEEP 0 0 0 20 703 GG 0.999863 0.99954 0 4 60 133 0 0 8.605922 64 60 2211 151 0.058824 0.999678 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11108679 11108679 __UNKNOWN__ IGR SNP C C T rs111964538 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11108679C>T NA NA BAGE2 (9754 upstream) : AP003900.6 (61108 downstream) NA NA NA AGCTATCAggctgggcgtggt 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11108679C>T NA hg19 0.02 1.479134 AGGxTGG COVERED NOVEL 0 24 2.338586 KEEP 1 1 29 18 649 CC 0.99986 0.999177 0 8 60 252 0 0 22.210569 17 60 584 125 0.32 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11108712 11108712 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11108712A>T NA NA BAGE2 (9787 upstream) : AP003900.6 (61075 downstream) NA NA NA tattcccagcactttgggaat 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11108712A>T NA hg19 0.02 1.512415 AGCxCTT COVERED NOVEL 0 19 3.008401 KEEP 1 0 0 10 294 AA 0.992708 0.987171 0 5 60 130 0 0 9.983958 20 60 538 96 0.2 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11110808 11110808 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11110808G>A NA NA BAGE2 (11883 upstream) : AP003900.6 (58979 downstream) NA NA NA cacctcctgggttcaagtgat 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11110808G>A NA hg19 0.02 -0.385096 TGGxTTC COVERED NOVEL 0 11 3.310873 KEEP 2 0 0 11 393 GG 0.993072 0.91181 0 4 60 124 0 0 8.580009 38 60 1247 84 0.095238 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11112900 11112900 __UNKNOWN__ IGR SNP G G C rs10433186 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11112900G>C NA NA BAGE2 (13975 upstream) : AP003900.6 (56887 downstream) NA NA NA ATGACCATGAGTAAAAGGCCC 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11112900G>C NA hg19 0.02 -0.438611 TGAxTAA COVERED NOVEL 0 9 4.514923 KEEP 2 0 0 15 552 GG 0.99649 0.95649 0 5 60 181 0 0 13.774344 38 60 1295 97 0.116279 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11113084 11113084 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11113084C>G NA NA BAGE2 (14159 upstream) : AP003900.6 (56703 downstream) NA NA NA tgtaatcccacctacttggga 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11113084C>G NA hg19 0.02 -0.359661 CCAxCTA COVERED NOVEL 0 8 3.912965 KEEP 0 0 0 13 476 CC 0.994391 0.90397 0 4 60 131 0 0 9.410517 35 60 1162 76 0.102564 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114613 11114613 __UNKNOWN__ IGR SNP C C T rs545625602 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11114613C>T NA NA BAGE2 (15688 upstream) : AP003900.6 (55174 downstream) NA NA NA CAGCAGCGGCCCAGGTGGAGT 0.502 NA c||| 89 0.0177716 0.0091 0.0101 5008 , , NA 111536 0.0129 NA 0.008 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114613C>T NA hg19 0.02 10.828289 GGCxCAG COVERED NOVEL 0 7 52.060885 KEEP 0 3 97 207 7020 CC 1 1 0 19 60 573 0 0 34.397751 329 60 10690 700 0.054598 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114909 11114909 __UNKNOWN__ IGR SNP G G C rs9631382 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11114909G>C NA NA BAGE2 (15984 upstream) : AP003900.6 (54878 downstream) NA NA NA CCCGGCTCCTGCTGGCTCCCA 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114909G>C NA hg19 0.02 -0.263173 CCTxCTG COVERED NOVEL 0 3 3.310759 KEEP 0 0 0 11 386 GG 0.993072 0.688863 0 4 60 137 0 0 11.168348 17 60 579 53 0.190476 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114910 11114910 __UNKNOWN__ IGR SNP C C A rs10433193 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11114910C>A NA NA BAGE2 (15985 upstream) : AP003900.6 (54877 downstream) NA NA NA CCGGCTCCTGCTGGCTCCCAC 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114910C>A NA hg19 0.02 -0.263151 CTGxTGG COVERED NOVEL 0 3 3.310858 KEEP 0 0 0 11 392 CC 0.993072 0.688863 0 4 60 123 0 0 9.76896 17 60 587 53 0.190476 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11119241 11119241 __UNKNOWN__ IGR SNP G G A rs6582854 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11119241G>A NA NA BAGE2 (20316 upstream) : AP003900.6 (50546 downstream) NA NA NA AAGTGAGAAGGCATTCAAAGT 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11119241G>A NA hg19 0.02 -0.297529 AAGxCAT COVERED NOVEL 0 5 3.310787 KEEP 0 0 0 11 385 GG 0.993072 0.794702 0 4 60 121 0 0 8.780046 28 60 939 64 0.125 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11119342 11119342 __UNKNOWN__ IGR SNP A A G rs57816886 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11119342A>G NA NA BAGE2 (20417 upstream) : AP003900.6 (50445 downstream) NA NA NA ctggagttcaagaccagcctg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11119342A>G NA hg19 0.02 7.540098 TCAxGAC COVERED NOVEL 0 43 17.752314 KEEP 1 0 0 59 1903 AA 1 1 0 9 60 304 0 0 19.121199 174 60 5170 377 0.04918 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11119368 11119368 __UNKNOWN__ IGR SNP C C A rs4638882 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11119368C>A NA NA BAGE2 (20443 upstream) : AP003900.6 (50419 downstream) NA NA NA catgatgagacccccatctct 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11119368C>A NA hg19 0.02 5.64091 AGAxCCC COVERED NOVEL 0 51 8.531818 KEEP 1 3 90 60 2135 CC 1 1 0 8 60 237 1 0 13.032976 188 60 6281 409 0.040816 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11123735 11123735 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11123735G>A NA NA BAGE2 (24810 upstream) : AP003900.6 (46052 downstream) NA NA NA cggcctcccagagtgctagga 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11123735G>A NA hg19 0.02 2.620164 CCAxAGT COVERED NOVEL 0 33 7.223546 KEEP 1 0 0 24 853 GG 0.999909 0.999909 0 6 60 169 0 1 9.531276 110 60 3777 251 0.051724 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11123753 11123753 __UNKNOWN__ IGR SNP T T A rs7281475 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11123753T>A NA NA BAGE2 (24828 upstream) : AP003900.6 (46034 downstream) NA NA NA ggattacagatgtgagccacc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11123753T>A NA hg19 0.02 2.801278 AGAxGTG COVERED NOVEL 0 33 3.435623 KEEP 1 1 33 23 704 TT 0.999931 0.999931 0 8 60 239 0 0 14.997756 111 60 3274 240 0.067227 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11124207 11124207 __UNKNOWN__ IGR SNP T T C rs80277558 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11124207T>C NA NA BAGE2 (25282 upstream) : AP003900.6 (45580 downstream) NA NA NA ttgtccttcttcttcttcttc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11124207T>C NA hg19 0.02 3.463071 TCTxCTT COVERED NOVEL 0 40 11.13252 KEEP 2 0 0 37 1137 TT 1 1 0 8 60 267 1 0 18.720957 84 60 2283 257 0.086957 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11124244 11124244 __UNKNOWN__ IGR SNP C C T rs201141550 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11124244C>T NA NA BAGE2 (25319 upstream) : AP003900.6 (45543 downstream) NA NA NA tctccttctccttcttctccc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11124244C>T NA hg19 0.02 4.331621 CTCxTTC COVERED NOVEL 0 52 3.506733 KEEP 1 3 89 43 1485 CC 1 1 0 10 60 274 0 0 17.051206 119 60 3930 295 0.077519 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11124379 11124379 __UNKNOWN__ IGR SNP C C T rs200535018 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11124379C>T NA NA BAGE2 (25454 upstream) : AP003900.6 (45408 downstream) NA NA NA tcttcttcttcttcttcttct 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11124379C>T NA hg19 0.02 1.590285 CTTxTTC COVERED NOVEL 0 32 2.941951 KEEP 7 1 29 20 695 CC 0.999863 0.981821 0 5 60 142 0 2 10.355754 30 60 1004 99 0.142857 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11129740 11129740 __UNKNOWN__ IGR SNP G G A rs79069828 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11129740G>A NA NA BAGE2 (30815 upstream) : AP003900.6 (40047 downstream) NA NA NA ctgatgttcgggtttggggta 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11129740G>A NA hg19 0.02 -0.254385 TCGxGTT COVERED NOVEL 0 5 3.009718 KEEP 0 0 0 10 350 GG 0.992708 0.663648 0 4 60 120 0 0 9.294757 19 60 626 48 0.173913 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11131263 11131263 __UNKNOWN__ IGR SNP T T C rs75425792 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11131263T>C NA NA BAGE2 (32338 upstream) : AP003900.6 (38524 downstream) NA NA NA agtggagcgatctcggctcag 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11131263T>C NA hg19 0.02 -0.438493 CGAxCTC COVERED NOVEL 0 17 3.910655 KEEP 0 0 0 13 391 TT 0.994391 0.954475 0 6 60 195 0 0 15.023147 34 60 979 80 0.15 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11131673 11131673 __UNKNOWN__ IGR SNP C C T rs369683431 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11131673C>T NA NA BAGE2 (32748 upstream) : AP003900.6 (38114 downstream) NA NA NA ggtgaaaccccgtctctactg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11131673C>T NA hg19 0.02 -0.27143 CCCxGTC UNCOVERED NOVEL 0 2 2.40759 KEEP 1 0 0 8 270 CC 0 0 0 7 60 208 0 0 17.437331 20 60 619 51 0.259259 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11134457 11134457 __UNKNOWN__ IGR SNP C C T rs200755312 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11134457C>T NA NA BAGE2 (35532 upstream) : AP003900.6 (35330 downstream) NA NA NA ctcagcctcccaagtggctgg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11134457C>T NA hg19 0.02 7.424493 TCCxAAG COVERED NOVEL 0 52 2.753615 KEEP 1 4 107 47 1674 CC 1 1 0 20 60 596 0 0 41.019236 178 60 6047 467 0.10101 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11134519 11134519 __UNKNOWN__ IGR SNP C C T rs201430367 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11134519C>T NA NA BAGE2 (35594 upstream) : AP003900.6 (35268 downstream) NA NA NA AAATCGGggccgggcacagtg 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11134519C>T NA hg19 0.02 4.588354 GGCxGGG COVERED NOVEL 0 26 8.725874 KEEP 3 0 0 29 972 CC 0.999997 0.999997 0 8 60 244 1 0 16.670307 78 60 2533 266 0.093023 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11135374 11135374 __UNKNOWN__ IGR SNP A A G rs75628604 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11135374A>G NA NA BAGE2 (36449 upstream) : AP003900.6 (34413 downstream) NA NA NA tcCAatacatacatacatata 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11135374A>G NA hg19 0.02 -0.359489 CATxCAT COVERED NOVEL 0 9 3.006423 KEEP 1 0 0 10 302 AA 0.992708 0.882393 0 4 60 135 0 0 10.009075 31 60 851 71 0.114286 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11138302 11138302 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11138302T>C NA NA BAGE2 (39377 upstream) : AP003900.6 (31485 downstream) NA NA NA cttaagcccattcatgagaaa 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11138302T>C NA hg19 0.02 -0.377124 CCAxTCA COVERED NOVEL 0 12 3.310249 KEEP 0 0 0 11 355 TT 0.993072 0.902771 0 5 60 164 0 0 12.554044 30 60 903 76 0.142857 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11139175 11139175 __UNKNOWN__ IGR SNP C C G rs55955008 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11139175C>G NA NA BAGE2 (40250 upstream) : AP003900.6 (30612 downstream) NA NA NA tctcctgcctcagcctcctga 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11139175C>G NA hg19 0.02 1.880208 CCTxAGC COVERED NOVEL 0 11 3.611452 KEEP 0 0 0 12 412 CC 0.993634 0.977896 0 4 59 139 0 0 9.908165 42 60 1432 101 0.086957 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11139205 11139205 __UNKNOWN__ IGR SNP C C T rs77503037 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11139205C>T NA NA BAGE2 (40280 upstream) : AP003900.6 (30582 downstream) NA NA NA actacaggcgcccaccaccac 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11139205C>T NA hg19 0.02 -0.411536 GCGxCCA COVERED NOVEL 0 11 4.514605 KEEP 1 0 0 15 520 CC 0.99649 0.938436 0 5 60 142 0 0 11.154261 20 60 667 78 0.2 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11139694 11139694 __UNKNOWN__ IGR SNP G G T rs141287884 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11139694G>T NA NA BAGE2 (40769 upstream) : AP003900.6 (30093 downstream) NA NA NA tccacctcctgggttcatgcc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11139694G>T NA hg19 0.02 -0.421071 CCTxGGT COVERED NOVEL 0 18 4.213821 KEEP 6 0 0 14 507 GG 0.995343 0.943985 0 6 60 180 0 0 13.130882 40 60 1364 97 0.130435 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11139707 11139707 __UNKNOWN__ IGR SNP T T C rs142376889 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11139707T>C NA NA BAGE2 (40782 upstream) : AP003900.6 (30080 downstream) NA NA NA ttcatgccattctcctgcctc 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11139707T>C NA hg19 0.02 1.923798 CATxCTC COVERED NOVEL 0 18 3.610966 KEEP 5 0 0 12 388 TT 0.993634 0.96464 0 4 59 141 0 0 9.921543 47 60 1372 96 0.078431 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11149433 11149433 __UNKNOWN__ IGR SNP C C G rs373046278 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11149433C>G NA NA BAGE2 (50508 upstream) : AP003900.6 (20354 downstream) NA NA NA ttcccaaagtcctgggattac 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11149433C>G NA hg19 0.02 1.672426 AGTxCTG COVERED NOVEL 0 29 7.522917 KEEP 3 0 0 25 862 CC 0.999931 0.999825 0 7 60 227 0 0 17.452443 40 60 1374 183 0.148936 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11149504 11149504 __UNKNOWN__ IGR SNP A A G rs61417283 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11149504A>G NA NA BAGE2 (50579 upstream) : AP003900.6 (20283 downstream) NA NA NA agagtgaacaatctgaaaaag 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11149504A>G NA hg19 0.02 -0.403337 ACAxTCT COVERED NOVEL 0 10 2.707912 KEEP 1 0 0 9 273 AA 0.99254 0.927521 0 5 60 164 0 0 12.840186 26 60 721 74 0.16129 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11154459 11154459 __UNKNOWN__ IGR SNP G G T rs9325328 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11154459G>T NA NA BAGE2 (55534 upstream) : AP003900.6 (15328 downstream) NA NA NA AGGTGGTGCAGATGGAGAGGC 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11154459G>T NA hg19 0.02 1.302329 GCAxATG COVERED NOVEL 0 4 4.514067 KEEP 0 0 0 15 529 GG 0.99649 0.976088 0 7 60 188 0 0 13.166155 46 60 1554 95 0.132075 0.979526 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11154509 11154509 __UNKNOWN__ IGR SNP G G A rs79356233 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11154509G>A NA NA BAGE2 (55584 upstream) : AP003900.6 (15278 downstream) NA NA NA GCTTTAggccgggcgcggtgg 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11154509G>A NA hg19 0.02 1.129327 GCCxGGC COVERED NOVEL 0 14 6.019268 KEEP 6 0 0 20 693 GG 0.99986 0.999586 0 6 60 172 0 0 10.997112 69 60 2209 149 0.08 0.999726 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11170564 11170564 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11170564T>C ENST00000603265.1 + 0 54 NA NA NA ccgccttggcttcccaaagtg 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11170564T>C NA hg19 0.02 -0.30695 GGCxTCC COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 8 3.912066 KEEP 2 0 0 13 425 TT 0.993634 0.795151 0 + 3 51 108 0 0 7.997277 27 60 800 68 ENST00000603265.1 0.1 0.800245 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11175598 11175598 __UNKNOWN__ lincRNA SNP A A G rs76691384 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11175598A>G ENST00000603265.1 + 0 231 NA NA NA cacgcctgtaatcccagctac 0.567 NA .||| 1 0.000199681 0 0 5008 , , NA 67810 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11175598A>G NA hg19 0.02 -0.385581 GTAxTCC COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 14 2.707776 KEEP 0 0 0 9 276 AA 0.99254 0.911321 0 + 5 60 151 0 0 11.006073 34 60 951 65 ENST00000603265.1 0.128205 0.918171 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11179871 11179871 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11179871T>C ENST00000603265.1 + 0 231 NA NA NA accttggccttccaaagtgct 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11179871T>C NA hg19 0.02 3.728117 CCTxCCA COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 30 8.425968 KEEP 0 0 0 28 903 TT 0.999997 0.999997 0 + 7 60 229 0 0 14.635338 114 60 3280 232 ENST00000603265.1 0.057851 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11184668 11184668 __UNKNOWN__ IGR SNP G G A rs56177438 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11184668G>A NA NA AP003900.6 (622 upstream) : None (None downstream) NA NA NA caggagaatcgcttgaacccg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11184668G>A NA hg19 0.02 -0.184104 ATCxCTT COVERED NOVEL 0 5 2.708758 KEEP 1 0 0 9 315 GG 0.99257 0.420331 0 4 60 113 0 0 8.964109 15 60 474 43 0.210526 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11186766 11186766 __UNKNOWN__ IGR SNP T T A rs77175056 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11186766T>A NA NA AP003900.6 (2720 upstream) : None (None downstream) NA NA NA tggcagctggtgcagtcccag 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11186766T>A NA hg19 0.02 -0.114004 TGGxGCA UNCOVERED NOVEL 0 5 3.007882 KEEP 5 0 0 10 301 TT 0.992708 0.161282 0 3 60 88 1 0 7.743486 6 60 173 35 0.333333 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11186774 11186774 __UNKNOWN__ IGR SNP C C G rs201602519 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:11186774C>G NA NA AP003900.6 (2728 upstream) : None (None downstream) NA NA NA ggtgcagtcccagtgtggtgt 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11186774C>G NA hg19 0.02 -0.131588 TCCxAGT COVERED NOVEL 0 8 3.611593 KEEP 7 0 0 12 417 CC 0.992708 0.227502 0 3 60 101 1 0 9.04344 6 60 204 40 0.333333 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 14356685 14356685 __UNKNOWN__ IGR SNP T T C rs199667478 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:14356685T>C NA NA None (None upstream) : AP001464.4 (15311 downstream) NA NA NA gtttcaaaactgctcaatcaa 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.14356685T>C NA hg19 0.02 -0.026316 AACxGCT UNCOVERED NOVEL 0 1 2.407564 KEEP 4 0 0 8 260 TT 0 0 0 2 40 64 1 0 6.524652 1 50 32 19 0.666667 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 14432993 14432993 __UNKNOWN__ IGR SNP G G C rs4558665 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:14432993G>C NA NA RNU6-614P (12983 upstream) : AL050302.1 (308937 downstream) NA NA NA GAAACACCTAGGAAAATTACA 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.14432993G>C NA hg19 0.02 -0.342132 CTAxGAA COVERED NOVEL 0 2 6.320558 KEEP 26 0 0 21 738 GG 0.999366 0.865197 0 3 40 95 0 0 6.341359 36 60 1237 126 0.076923 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 14469785 14469785 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:14469785C>G NA NA RNU6-614P (49775 upstream) : AL050302.1 (272145 downstream) NA NA NA TTTCTCTCCACTATGAATTCT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.14469785C>G NA hg19 0.02 1.914913 CCAxTAT COVERED NOVEL 0 7 8.126864 KEEP 15 0 0 27 987 CC 0.999909 0.973877 0 4 49 131 0 0 8.855497 49 50 1673 138 0.075472 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 14771691 14771691 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:14771691T>C NA NA AL050302.1 (26305 upstream) : MIR3156-3 (7013 downstream) NA NA NA TTTGATCTTGTGGAGCTCGTT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.14771691T>C NA hg19 0.02 -0.4209 TTGxGGA COVERED NOVEL 0 2 4.813873 KEEP 0 0 0 16 486 TT 0.997832 0.946346 0 15 60 499 0 0 44.278626 32 60 913 92 0.319149 0.948402 POTED 317754 __UNKNOWN__ __UNKNOWN__ 21 14982637 14982637 __UNKNOWN__ Missense_Mutation SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:14982637C>G ENST00000299443.5 + 1 140 c.88C>G c.(88-90)Cac>Gac p.H30D NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 30 NA plasma membrane (GO:0005886) central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 GTGGTGCCACCACCGCTTCCC 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 21 NA NA 14982637 83 635 718 SO:0001583 missense AY172978 CCDS13562.1 21q11.2 2013-01-10 2008-11-26 2008-11-26 ENSG00000166351 ENSG00000166351 317754 POTE ankyrin domain containing, Ankyrin repeat domain containing 23822 protein-coding gene gene with protein product cancer/testis antigen family 104, member 1 607549 ankyrin repeat domain 21, ANKRD26-like family B, member 3 ANKRD21, A26B3 NA 12475935, 15276201, 16364570 Standard NM_174981 NM_174981 NA Approved POTE, POTE-21, POTE21, CT104.1 uc002yjb.1 Q86YR6 OTTHUMG00000074197 ENST00000299443.5:c.88C>G chr21.hg19:g.14982637C>G ENSP00000299443:p.His30Asp NA C9JCF7 hg19 CCDS13562.1 0.02 7.381572 CACxACC COVERED . . . . . . . . . . C 5.048 0.194622 0.09599 . . ENSG00000166351 ENST00000299443 T 0.30448 1.53 . . . . . . . . T 0.18964 0.0455 N 0.19112 0.55 0.09310 N 1 P 0.34662 0.462 B 0.36534 0.227 T 0.21999 -1.0229 7 0.87932 D 0 . . . . . 30 Q86YR6 POTED_HUMAN D 30 ENSP00000299443:H30D ENSP00000299443:H30D H + 1 0 POTED 13904508 0.000000 0.05858 0.049000 0.19019 0.021000 0.10359 -0.130000 0.10498 0.119000 0.18210 0.121000 0.15741 CAC NOVEL POTED-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157660.1 5 23.750821 KEEP 3 2 39 93 3275 CC 1 1 0 + 12 60 393 0 0 24.721175 212 60 7092 475 ENST00000299443.5 0.053571 1 POTED 317754 __UNKNOWN__ __UNKNOWN__ 21 14982676 14982676 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:14982676A>G ENST00000299443.5 + 1 179 c.127A>G c.(127-129)Atg>Gtg p.M43V NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 43 NA plasma membrane (GO:0005886) central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 CAAGAGCAACATGGGCACTTC 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA 21 NA NA 14982676 91 740 831 SO:0001583 missense AY172978 CCDS13562.1 21q11.2 2013-01-10 2008-11-26 2008-11-26 ENSG00000166351 ENSG00000166351 317754 POTE ankyrin domain containing, Ankyrin repeat domain containing 23822 protein-coding gene gene with protein product cancer/testis antigen family 104, member 1 607549 ankyrin repeat domain 21, ANKRD26-like family B, member 3 ANKRD21, A26B3 NA 12475935, 15276201, 16364570 Standard NM_174981 NM_174981 NA Approved POTE, POTE-21, POTE21, CT104.1 uc002yjb.1 Q86YR6 OTTHUMG00000074197 ENST00000299443.5:c.127A>G chr21.hg19:g.14982676A>G ENSP00000299443:p.Met43Val NA C9JCF7 hg19 CCDS13562.1 0.02 6.961165 AACxTGG COVERED . . . . . . . . . . A 0.001 -3.804672 0.00004 . . ENSG00000166351 ENST00000299443 T 0.19250 2.16 . . . . . . . . T 0.03608 0.0103 N 0.00583 -1.355 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.28490 -1.0042 7 0.10111 T 0.7 . . . . . 43 Q86YR6 POTED_HUMAN V 43 ENSP00000299443:M43V ENSP00000299443:M43V M + 1 0 POTED 13904547 0.000000 0.05858 0.113000 0.21522 0.110000 0.19582 -0.831000 0.04405 -1.555000 0.01697 -1.550000 0.00899 ATG NOVEL POTED-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157660.1 5 22.733896 KEEP 0 2 58 96 2937 AA 1 1 0 + 12 60 400 0 0 25.11839 225 60 6435 474 ENST00000299443.5 0.050633 1 POTED 317754 __UNKNOWN__ __UNKNOWN__ 21 14982764 14982764 __UNKNOWN__ Missense_Mutation SNP G G A rs201348025 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:14982764G>A ENST00000299443.5 + 1 267 c.215G>A c.(214-216)tGc>tAc p.C72Y NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 72 NA plasma membrane (GO:0005886) central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 TTCCCCTGCTGCAGGGGGAGC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 2 3 3 NA NA NA 21 NA NA 14982764 276 1569 1845 SO:0001583 missense AY172978 CCDS13562.1 21q11.2 2013-01-10 2008-11-26 2008-11-26 ENSG00000166351 ENSG00000166351 317754 POTE ankyrin domain containing, Ankyrin repeat domain containing 23822 protein-coding gene gene with protein product cancer/testis antigen family 104, member 1 607549 ankyrin repeat domain 21, ANKRD26-like family B, member 3 ANKRD21, A26B3 NA 12475935, 15276201, 16364570 Standard NM_174981 NM_174981 NA Approved POTE, POTE-21, POTE21, CT104.1 uc002yjb.1 Q86YR6 OTTHUMG00000074197 ENST00000299443.5:c.215G>A chr21.hg19:g.14982764G>A ENSP00000299443:p.Cys72Tyr NA C9JCF7 hg19 CCDS13562.1 0.02 0.825411 GCTxCAG COVERED . . . . . . . . . . G 8.414 0.844887 0.16963 . . ENSG00000166351 ENST00000299443 T 0.38560 1.13 . . . . . . . . T 0.34454 0.0898 L 0.61218 1.895 0.09310 N 1 P 0.39520 0.676 B 0.42343 0.384 T 0.27739 -1.0065 7 0.02654 T 1 . . . . . 72 Q86YR6 POTED_HUMAN Y 72 ENSP00000299443:C72Y ENSP00000299443:C72Y C + 2 0 POTED 13904635 0.393000 0.25237 0.062000 0.19696 0.062000 0.15995 0.994000 0.29693 0.119000 0.18210 0.121000 0.15741 TGC NOVEL POTED-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157660.1 5 8.562375 KEEP 3 1 30 39 1399 GG 1 0.999768 0 + 5 50 136 0 0 7.719688 81 60 2732 163 ENST00000299443.5 0.05814 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 15386030 15386030 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:15386030T>C NA NA AP001634.1 (28190 upstream) : AP001347.6 (13711 downstream) NA NA NA CCTTCCAGGGTCAGGAGGTGC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.15386030T>C NA hg19 0.02 -0.394508 GGGxCAG COVERED NOVEL 0 0 3.008872 KEEP 0 0 0 10 308 TT 0.992708 0.919883 0 3 60 99 0 0 6.548846 42 60 1164 73 0.066667 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 19067486 19067486 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:19067486T>C NA NA AP000432.2 (34784 upstream) : C21orf91-OT1 (68145 downstream) NA NA NA tctgatctctttttcttttcc 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.19067486T>C NA hg19 0.02 -0.350815 TCTxTTT COVERED NOVEL 0 8 3.611018 KEEP 0 0 0 12 376 TT 0.993634 0.87212 0 3 60 100 1 0 6.875679 35 60 1033 79 0.078947 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 21467798 21467798 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:21467798G>A NA NA AP000946.2 (195729 upstream) : AP001171.1 (161266 downstream) NA NA NA gattacaggcgtgagccacca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.21467798G>A NA hg19 0.02 -0.140345 GGCxTGA COVERED NOVEL 0 4 2.407471 KEEP 0 0 0 8 267 GG 0.99257 0.259026 0 3 60 90 0 0 7.07898 13 60 425 37 0.1875 0.260965 GABPA 2551 __UNKNOWN__ __UNKNOWN__ 21 27142914 27142914 __UNKNOWN__ 3'UTR SNP C C T rs375897808 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:27142914C>T ENST00000354828.3 + 0 3263 GABPA_ENST00000400075.3_3'UTR NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa NA NA cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) nuclear chromatin (GO:0000790)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 AATATTTATGCACCTTCTCCT 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13575.1 21q21-q22.1 2008-07-31 2002-08-29 ENSG00000154727 ENSG00000154727 2551 4071 protein-coding gene gene with protein product human nuclear respiratory factor-2 subunit alpha, nuclear respiratory factor 2 alpha subunit 600609 GA-binding protein transcription factor, alpha subunit (60kD) NA 8441384 Standard NM_002040 NM_002040 NA Approved E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A uc002yly.4 Q06546 OTTHUMG00000078443 ENST00000354828.3:c.*1371C>T chr21.hg19:g.27142914C>T NA Q12939 hg19 CCDS13575.1 0.02 1.056697 ATGxACC COVERED NOVEL GABPA-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171365.1 3 14.71508 KEEP 1 2 63 71 2514 CC 1 0.999559 0 + 9 49 256 0 0 17.483498 75 60 2575 221 ENST00000354828.3 0.107143 0.999559 APP 351 __UNKNOWN__ __UNKNOWN__ 21 27318119 27318119 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:27318119A>T ENST00000346798.3 - 13 1721 APP_ENST00000357903.3_Intron|APP_ENST00000359726.3_Intron|APP_ENST00000439274.2_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000358918.3_Intron|APP_ENST00000440126.3_Intron|APP_ENST00000354192.3_Intron|APP_ENST00000448388.2_Intron NM_000484.3 NP_000475.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein NA NA adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542) apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202) acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914) endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) tcctcccaccacagcctcctg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M15533 CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1 21q21.2 2014-01-30 2008-07-31 ENSG00000142192 ENSG00000142192 351 Endogenous ligands 620 protein-coding gene gene with protein product peptidase nexin-II 104760 Alzheimer disease AD1 NA 1679289 Standard NM_000484 NM_001136130 NA Approved uc002ylz.3 P05067 OTTHUMG00000078438 ENST00000346798.3:c.1687+8784T>A chr21.hg19:g.27318119A>T NA B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58 hg19 CCDS13576.1 0.02 2.780673 ACCxCAG COVERED NOVEL APP-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000171340.1 15 26.472898 KEEP 0 0 0 88 2686 AA 1 1 0 - 7 60 211 0 0 12.616987 123 60 3645 326 ENST00000346798.3 0.053846 1 ADAMTS5 11096 __UNKNOWN__ __UNKNOWN__ 21 28294497 28294497 __UNKNOWN__ 3'UTR SNP G G A rs229074 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:28294497G>A ENST00000284987.5 - 0 4789 AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 NA NA defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 ATAATTTATTGAGAAAAAAAA 0.313 NA A||| 2126 0.424521 0.4962 0.4741 5008 , , NA 14271 0.0813 NA 0.5656 False NA ,,, NA NA NA 2504 0.501 NA NA NA Esophageal Squamous(53;683 1080 10100 14424 45938) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF142099 CCDS13579.1 21q21.3 2008-07-31 2008-07-31 ENSG00000154736 ENSG00000154736 11096 ADAM metallopeptidases with thrombospondin type 1 motif 221 protein-coding gene gene with protein product aggrecanase-2 605007 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2) NA 10438522 Standard NM_007038 NA Approved ADMP-2, ADAMTS11 uc002ymg.3 Q9UNA0 OTTHUMG00000078686 ENST00000284987.5:c.*1875C>T chr21.hg19:g.28294497G>A NA Q52LV4|Q9UKP2 hg19 CCDS13579.1 0.02 1.321995 ATTxAGA COVERED NOVEL ADAMTS5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171648.1 4 10.233249 KEEP 0 0 0 34 1202 GG 0.999998 0.993701 0 - 4 60 124 0 0 7.844285 59 60 1957 136 ENST00000284987.5 0.063492 0.993703 RWDD2B 10069 __UNKNOWN__ __UNKNOWN__ 21 30377807 30377807 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:30377807A>C ENST00000493196.1 - 0 1991 NM_016940.2 NP_058636.1 P57060 RWD2B_HUMAN RWD domain containing 2B NA NA endometrium(1)|kidney(1)|large_intestine(8)|lung(2) 12 cctgtaatccaagcacattgg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF212232 CCDS13582.1 21q22.11 2012-12-07 2007-07-17 2007-07-17 ENSG00000156253 ENSG00000156253 10069 1302 protein-coding gene gene with protein product chromosome 21 open reading frame 6 C21orf6 NA 10729227 Standard NM_016940 NA Approved GL011 uc002yms.3 P57060 OTTHUMG00000078805 ENST00000493196.1:c.*931T>G chr21.hg19:g.30377807A>C NA hg19 CCDS13582.1 0.02 -0.289282 TCCxAGC COVERED NOVEL RWDD2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171858.1 1 3.610284 KEEP 0 0 0 12 354 AA 0.993634 0.776087 0 - 3 60 99 0 0 7.145174 26 60 681 52 ENST00000493196.1 0.103448 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 32015526 32015526 __UNKNOWN__ IGR SNP G G A rs539428183 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:32015526G>A NA NA KRTAP20-3 (71 upstream) : KRTAP21-3 (75316 downstream) NA NA NA aggccgaggcgggtggatcac 0.453 NA G||| 1 0.000199681 8e-04 0 5008 , , NA 17397 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.32015526G>A NA hg19 0.02 -0.183763 GGCxGGT COVERED NOVEL 0 2 3.911797 KEEP 0 0 0 13 412 GG 0.994391 0.421102 0 3 60 84 0 0 6.484423 13 60 391 34 0.1875 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 33001132 33001132 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:33001132T>C NA NA AP000251.3 (68332 upstream) : AP000253.1 (24773 downstream) NA NA NA cggtggctcatgcctgtaatc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.33001132T>C NA hg19 0.02 1.832952 TCAxGCC COVERED NOVEL 0 7 4.212886 KEEP 2 0 0 14 443 TT 0.995343 0.96292 0 4 60 137 0 0 9.594261 45 60 1349 100 0.081633 0.967425 AP000253.1 0 __UNKNOWN__ __UNKNOWN__ 21 33030905 33030905 __UNKNOWN__ lincRNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:33030905T>C ENST00000449339.1 - 0 104 NA NA NA gtggctcatgtctgtaatccc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000449339.1: chr21.hg19:g.33030905T>C NA hg19 0.02 -0.192915 ATGxCTG COVERED NOVEL AP000253.1-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000192589.1 3 2.407348 KEEP 0 0 0 8 254 TT 0.99257 0.454356 0 - 3 60 89 0 0 6.528634 19 60 543 38 ENST00000449339.1 0.136364 0.457757 URB1 9875 __UNKNOWN__ __UNKNOWN__ 21 33686771 33686771 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:33686771T>C ENST00000382751.3 - 0 7389 MRAP_ENST00000399786.3_Intron|MRAP_ENST00000339944.4_Intron NM_014825.2 NP_055640.2 O60287 NPA1P_HUMAN URB1 ribosome biogenesis 1 homolog (S. cerevisiae) NA NA nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1) 19 gctgggattataggcgtgagc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011111 CCDS46645.1 21q22.11 2006-11-28 2006-11-28 2006-11-28 ENSG00000142207 ENSG00000142207 9875 17344 protein-coding gene gene with protein product nucleolar preribosomal-associated protein 1 608865 chromosome 21 open reading frame 108 C21orf108 NA 9628581 Standard NM_014825 NA Approved KIAA0539, NPA1 uc002ypn.2 O60287 OTTHUMG00000064919 ENST00000382751.3:c.*458A>G chr21.hg19:g.33686771T>C NA D3DSE5|Q96NX1|Q9NYQ1 hg19 CCDS46645.1 0.02 3.781754 TTAxAGG COVERED NOVEL URB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139400.2 26 5.219447 KEEP 0 3 111 56 1687 TT 1 0.999999 0 - 10 60 346 0 0 24.788231 101 60 2751 250 ENST00000382751.3 0.09009 0.999999 SYNJ1 8867 __UNKNOWN__ __UNKNOWN__ 21 34011918 34011918 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:34011918A>G ENST00000433931.2 - 30 3822 SYNJ1_ENST00000357345.3_Intron|SYNJ1_ENST00000382499.2_Intron|SYNJ1_ENST00000382491.3_Intron|SYNJ1_ENST00000322229.7_Intron NM_003895.3 NP_003886.3 O43426 SYNJ1_HUMAN synaptojanin 1 NA NA cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488) cytosol (GO:0005829) inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723) breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 atgttgcccaagctggtctca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF009040 CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1 21q22.2 2008-06-23 ENSG00000159082 ENSG00000159082 8867 11503 protein-coding gene gene with protein product 604297 NA 9428629, 10773674 Standard NM_203446 NA Approved INPP5G uc002yqh.2 O43426 OTTHUMG00000064926 ENST00000433931.2:c.3814+62T>C chr21.hg19:g.34011918A>G NA O43425|O94984|Q4KMR1 hg19 CCDS33539.2 0.02 -0.201534 CCAxGCT COVERED NOVEL SYNJ1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000139428.4 4 3.009309 KEEP 0 0 0 10 319 AA 0.992708 0.486967 0 - 3 60 91 0 0 6.795168 18 60 491 40 ENST00000433931.2 0.142857 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 34144170 34144170 __UNKNOWN__ IGR SNP T T A rs62214444 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:34144170T>A NA NA PAXBP1 (1 upstream) : C21orf49 (240 downstream) NA NA NA agagagagagtgagagagaga 0.567 NA OREG0003542|OREG0003543 type=REGULATORY REGION|Gene=BC062992|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=C21orf49|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.34144170T>A 845 hg19 0.02 2.533105 GAGxGAG COVERED NOVEL 0 15 22.821104 KEEP 8 2 23 85 2223 TT 1 1 0 15 60 295 0 0 17.081852 110 60 2815 279 0.12 1 C21orf62 56245 __UNKNOWN__ __UNKNOWN__ 21 34169819 34169819 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:34169819A>C ENST00000536776.1 - 2 77 C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000479548.1_Intron|C21orf49_ENST00000382377.3_3'UTR|C21orf62_ENST00000490358.1_Intron|C21orf62_ENST00000487113.1_Intron|C21orf49_ENST00000382375.4_3'UTR NM_001162495.2|NM_001162496.2|NM_019596.5 NP_001155967.2|NP_001155968.2|NP_062542.5 Q9NYP8 CU062_HUMAN chromosome 21 open reading frame 62 NA NA endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 6 Myeloproliferative disorder(46;0.0255) cttggcctccaaaagtgctgg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF231922 CCDS42919.1, CCDS42919.2 21q22.1 2011-02-24 ENSG00000205929 ENSG00000205929 56245 1305 protein-coding gene gene with protein product chromosome 21 open reading frame 120 C21orf120 NA Standard NM_019596 NM_001162495 NA Approved B37, PRED81 uc011adu.2 Q9NYP8 OTTHUMG00000163477 ENST00000536776.1:c.64-3023T>G chr21.hg19:g.34169819A>C NA A8K4L8 hg19 CCDS42919.2 0.02 -0.227694 TCCxAAA COVERED NOVEL C21orf62-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139598.5 5 5.115248 KEEP 1 0 0 17 527 AA 0.999366 0.582561 0 - 3 60 99 0 0 7.408127 21 60 607 57 ENST00000536776.1 0.125 0.58293 GART 2618 __UNKNOWN__ __UNKNOWN__ 21 34878472 34878472 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:34878472G>C ENST00000381831.3 - 19 2716 GART_ENST00000543717.1_Intron|GART_ENST00000381839.3_Intron|GART_ENST00000381815.4_Intron NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase NA NA 'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) ttttttgagagggagtctcac 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M32082 CCDS13627.1, CCDS13628.1 21q22.11 2012-10-02 ENSG00000159131 ENSG00000159131 2618 2.1.2.2, 6.3.3.1, 6.3.4.13 4163 protein-coding gene gene with protein product 138440 PRGS, PGFT NA 2050105 Standard NM_000819 NM_001136005 NA Approved uc002yrx.3 P22102 OTTHUMG00000065628 ENST00000381831.3:c.2453-61C>G chr21.hg19:g.34878472G>C NA A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77 hg19 CCDS13627.1 0.02 -0.342107 AGAxGGA COVERED NOVEL GART-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000140626.3 6 5.416418 KEEP 0 0 0 18 603 GG 0.999859 0.918042 0 - 3 60 100 1 2 6.948878 33 60 1074 71 ENST00000381831.3 0.083333 0.918171 GART 2618 __UNKNOWN__ __UNKNOWN__ 21 34902232 34902232 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:34902232A>G ENST00000381831.3 - 7 987 GART_ENST00000381839.3_Intron|GART_ENST00000381815.4_Intron|GART_ENST00000361093.5_Intron NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase NA NA 'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) caggcatggtagctcacgcct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M32082 CCDS13627.1, CCDS13628.1 21q22.11 2012-10-02 ENSG00000159131 ENSG00000159131 2618 2.1.2.2, 6.3.3.1, 6.3.4.13 4163 protein-coding gene gene with protein product 138440 PRGS, PGFT NA 2050105 Standard NM_000819 NM_001136005 NA Approved uc002yrx.3 P22102 OTTHUMG00000065628 ENST00000381831.3:c.723+832T>C chr21.hg19:g.34902232A>G NA A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77 hg19 CCDS13627.1 0.02 -0.30696 GGTxGCT COVERED NOVEL GART-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000140626.3 4 3.00895 KEEP 1 0 0 10 307 AA 0.992708 0.79441 0 - 3 60 102 0 0 7.309512 29 60 840 60 ENST00000381831.3 0.09375 0.800245 CRYZL1 9946 __UNKNOWN__ __UNKNOWN__ 21 34988655 34988655 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:34988655A>G ENST00000445393.1 - 4 273 AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000413017.2_3'UTR|CRYZL1_ENST00000290244.5_Intron|CRYZL1_ENST00000381554.3_Intron|CRYZL1_ENST00000361534.2_Intron|CRYZL1_ENST00000381540.3_Intron O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 NA NA quinone metabolic process (GO:1901661) cytosol (GO:0005829) NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270) lung(1)|prostate(1)|urinary_tract(1) 3 ctggagtgcaatggtgtgatc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF029689 CCDS13633.2 21q22.1 2008-07-31 ENSG00000205758 ENSG00000205758 9946 2420 protein-coding gene gene with protein product quinone reductase-like 1 603920 NA 10191096 Standard NM_145858 NM_145858 NA Approved QOH-1, 4P11 uc021wio.1 O95825 OTTHUMG00000065954 ENST00000445393.1:c.217+5646T>C chr21.hg19:g.34988655A>G NA B2RDX1|B3KQ77|Q96DY0|Q9NVY7 hg19 0.02 1.757194 GCAxTGG COVERED NOVEL CRYZL1-024 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337118.1 5 5.050096 KEEP 1 1 35 29 890 AA 0.999997 0.99755 0 - 4 60 134 0 0 8.900579 57 60 1623 123 ENST00000445393.1 0.065574 0.997553 RCAN1 1827 __UNKNOWN__ __UNKNOWN__ 21 35896183 35896183 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:35896183T>C ENST00000481448.1 - 3 709 RCAN1_ENST00000399272.1_Intron|RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000381132.2_Intron|RCAN1_ENST00000487990.1_Intron|RCAN1_ENST00000492600.1_Intron|RCAN1_ENST00000443408.2_Intron|RCAN1_ENST00000313806.4_Intron|RCAN1_ENST00000489903.1_Intron|RCAN1_ENST00000381135.3_Intron P53805 RCAN1_HUMAN regulator of calcineurin 1 NA NA blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 caggttcaagtgattctcctg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1 21q22.1-q22.2 2010-08-11 2007-06-26 2007-06-26 ENSG00000159200 ENSG00000159200 1827 3040 protein-coding gene gene with protein product 602917 Down syndrome critical region gene 1 DSCR1 NA 8595418 Standard XM_005260929 NA Approved uc002yue.3 P53805 OTTHUMG00000086235 ENST00000481448.1:c.223-175A>G chr21.hg19:g.35896183T>C NA D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4 hg19 0.02 1.980311 AAGxGAT COVERED NOVEL RCAN1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000194146.2 1 7.289136 KEEP 1 2 56 44 1359 TT 1 0.986153 0 - 6 60 166 0 0 11.247293 49 60 1381 108 ENST00000481448.1 0.109091 0.986153 RCAN1 1827 __UNKNOWN__ __UNKNOWN__ 21 35959207 35959207 __UNKNOWN__ Intron SNP G G A rs180676608 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:35959207G>A ENST00000313806.4 - 1 383 RCAN1_ENST00000399272.1_Intron|RCAN1_ENST00000443408.2_Intron|RCAN1_ENST00000489903.1_Intron NM_004414.5 NP_004405.3 P53805 RCAN1_HUMAN regulator of calcineurin 1 NA NA blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 agttgagatcgcaccattgca 0.448 NA G||| 6 0.00119808 0 0.0029 5008 , , NA 15533 0 NA 0.003 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1 21q22.1-q22.2 2010-08-11 2007-06-26 2007-06-26 ENSG00000159200 ENSG00000159200 1827 3040 protein-coding gene gene with protein product 602917 Down syndrome critical region gene 1 DSCR1 NA 8595418 Standard XM_005260929 NA Approved uc002yue.3 P53805 OTTHUMG00000086235 ENST00000313806.4:c.252+27851C>T chr21.hg19:g.35959207G>A NA D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4 hg19 CCDS13637.1 0.02 -0.192965 ATCxCAC COVERED NOVEL RCAN1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000194142.1 5 2.406994 KEEP 0 0 0 8 260 GG 0.99257 0.454356 0 - 3 60 94 0 0 7.161079 17 60 534 39 ENST00000313806.4 0.15 0.457757 SETD4 54093 __UNKNOWN__ __UNKNOWN__ 21 37429744 37429744 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:37429744C>A ENST00000399215.1 - 2 1446 SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399205.1_5'UTR|SETD4_ENST00000332131.4_Intron|SETD4_ENST00000399212.1_5'UTR|SETD4_ENST00000399201.1_5'UTR|SETD4_ENST00000399207.1_Intron|SETD4_ENST00000399208.2_Intron Q9NVD3 SETD4_HUMAN SET domain containing 4 NA NA methyltransferase activity (GO:0008168) autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 ggagtttgagcccagcctgcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001660 CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1 21q22.13 2006-02-15 2006-02-15 2006-02-15 ENSG00000185917 ENSG00000185917 54093 1258 protein-coding gene gene with protein product chromosome 21 open reading frame 27, chromosome 21 open reading frame 18 C21orf27, C21orf18 NA Standard NM_017438 XM_005261000 NA Approved uc021wiy.1 Q9NVD3 OTTHUMG00000086483 ENST00000399215.1:c.74-242G>T chr21.hg19:g.37429744C>A NA B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46 hg19 CCDS13640.1 0.02 3.935855 GAGxCCA COVERED NOVEL SETD4-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194456.1 29 12.87279 KEEP 1 1 26 52 1796 CC 1 1 0 - 7 60 199 0 0 10.927688 146 60 4875 335 ENST00000399215.1 0.045752 1 CBR3-AS1 100506428 __UNKNOWN__ __UNKNOWN__ 21 37506418 37506418 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:37506418T>C ENST00000453159.1 - 0 191 CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA NR_038893.1 CBR3 antisense RNA 1 NA NA NA ggattacaggtgtgagccacc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC038671 21q22.12 2013-12-19 2012-08-15 ENSG00000236830 ENSG00000236830 100506428 Long non-coding RNAs 43664 non-coding RNA RNA, long non-coding prostate cancer-up-regulated long noncoding RNA 1 CBR3 antisense RNA 1 (non-protein coding) NA 22264502, 24337686 Standard NR_038892 NR_038892 NA Approved PlncRNA-1 uc002yvc.2 OTTHUMG00000086607 ENST00000453159.1: chr21.hg19:g.37506418T>C NA hg19 0.02 -0.166607 AGGxGTG COVERED NOVEL CBR3-AS1-001 KNOWN basic|exp_conf antisense NA processed_transcript OTTHUMT00000194619.1 4 2.708058 KEEP 0 0 0 9 276 TT 0.99254 0.351306 0 - 3 60 92 0 0 7.111544 15 60 440 38 ENST00000453159.1 0.166667 0.353947 DOPEY2 9980 __UNKNOWN__ __UNKNOWN__ 21 37666019 37666019 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:37666019A>G ENST00000399151.3 + 0 7132 NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 NA NA cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ggtggctcacacctgtaatct 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ237839 CCDS13643.1 21q22.2 2013-03-05 2006-02-02 2006-02-02 ENSG00000142197 ENSG00000142197 9980 1291 protein-coding gene gene with protein product 604803 chromosome 21 open reading frame 5 C21orf5 NA 16301316, 16303751, 10931277 Standard NM_005128 NM_005128 NA Approved KIAA0933 uc002yvg.3 Q9Y3R5 OTTHUMG00000086619 ENST00000399151.3:c.*150A>G chr21.hg19:g.37666019A>G NA D3DSG5|Q6PJQ7|Q9UEZ3 hg19 CCDS13643.1 0.02 3.362197 CACxCCT COVERED NOVEL DOPEY2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194636.1 31 8.426262 KEEP 0 3 109 66 1960 AA 1 1 0 + 9 60 281 0 0 18.059203 126 60 3701 292 ENST00000399151.3 0.066667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 37666800 37666800 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:37666800A>G NA NA DOPEY2 (228 upstream) : AP000692.10 (25289 downstream) NA NA NA cgaggtgggcagatcacctga 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.37666800A>G NA hg19 0.02 -0.201711 GGCxGAT UNCOVERED NOVEL 0 9 2.407469 KEEP 9 0 0 8 255 AA 0 0 0 3 54 92 0 0 6.894067 18 60 542 58 0.142857 0.490544 MORC3 23515 __UNKNOWN__ __UNKNOWN__ 21 37727986 37727986 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:37727986C>G ENST00000400485.1 + 10 1179 MORC3_ENST00000487909.1_Intron NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 NA NA cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821) PML body (GO:0016605) zinc ion binding (GO:0008270) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 ggtggctcatccctgtaatcc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025327 CCDS42924.1 21q22.13 2005-06-15 2005-06-15 2005-06-15 ENSG00000159256 ENSG00000159256 23515 23572 protein-coding gene gene with protein product 610078 zinc finger, CW-type with coiled-coil domain 3, zinc finger, CW type with coiled-coil domain 3 ZCWCC3 NA 14607086 Standard NM_015358 NM_015358 NA Approved ZCW5, NXP2, KIAA0136 uc002yvi.3 Q14149 OTTHUMG00000086620 ENST00000400485.1:c.1104-932C>G chr21.hg19:g.37727986C>G NA A8KA92|Q9UEZ2 hg19 CCDS42924.1 0.02 -0.183868 CATxCCT COVERED NOVEL MORC3-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000194640.1 3 2.682474 KEEP 0 0 0 9 293 CC 0.99254 0.420319 0 + 4 60 139 0 0 11.566847 15 60 452 39 ENST00000400485.1 0.210526 0.423478 HLCS 3141 __UNKNOWN__ __UNKNOWN__ 21 38131222 38131222 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:38131222C>T ENST00000399120.1 - 10 3026 HLCS_ENST00000336648.4_Intron NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) NA NA biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363) ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) gaggcggaggctgcagtgagc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13647.1 21q22.1 2012-07-13 2010-04-30 ENSG00000159267 ENSG00000159267 3141 6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15 4976 protein-coding gene gene with protein product 609018 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase), holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) NA 7842009 Standard NM_000411 NA Approved HCS uc021wjb.1 P50747 OTTHUMG00000086636 ENST00000399120.1:c.1795+805G>A chr21.hg19:g.38131222C>T NA B2RAH1|D3DSG6|Q99451 hg19 CCDS13647.1 0.02 -0.298217 AGGxTGC COVERED NOVEL HLCS-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194687.2 6 3.310751 KEEP 0 0 0 11 385 CC 0.993072 0.775649 0 - 5 60 140 0 0 10.954033 20 60 686 52 ENST00000399120.1 0.2 0.78106 HLCS 3141 __UNKNOWN__ __UNKNOWN__ 21 38335799 38335799 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:38335799C>T ENST00000399120.1 - 2 30 HLCS_ENST00000336648.4_Intron NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) NA NA biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363) ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) cggtggctcacgcctgtaatc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13647.1 21q22.1 2012-07-13 2010-04-30 ENSG00000159267 ENSG00000159267 3141 6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15 4976 protein-coding gene gene with protein product 609018 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase), holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) NA 7842009 Standard NM_000411 NA Approved HCS uc021wjb.1 P50747 OTTHUMG00000086636 ENST00000399120.1:c.1201-1329G>A chr21.hg19:g.38335799C>T NA B2RAH1|D3DSG6|Q99451 hg19 CCDS13647.1 0.02 -0.236818 TCAxGCC COVERED NOVEL HLCS-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194687.2 3 2.40797 KEEP 0 0 0 8 292 CC 0.99257 0.607857 0 - 3 60 92 0 1 6.706076 21 60 692 56 ENST00000399120.1 0.125 0.612407 RIPPLY3 53820 __UNKNOWN__ __UNKNOWN__ 21 38391237 38391237 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:38391237A>G ENST00000329553.2 + 0 1513 RIPPLY3_ENST00000485272.1_3'UTR NM_018962.2 NP_061835.1 P57055 DSCR6_HUMAN ripply transcriptional repressor 3 NA NA heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NA caggtgatccacccgccttgg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037158 CCDS13648.1 21q22.2 2013-07-23 2013-07-23 2013-06-04 ENSG00000183145 ENSG00000183145 53820 3047 protein-coding gene gene with protein product 609892 Down syndrome critical region gene 6, ripply3 homolog (zebrafish) DSCR6 NA 10814524, 22354841 Standard NM_018962 NA Approved P57055 OTTHUMG00000086639 ENST00000329553.2:c.*730A>G chr21.hg19:g.38391237A>G NA hg19 CCDS13648.1 0.02 1.480814 TCCxCCC COVERED NOVEL RIPPLY3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194703.1 8 3.844182 KEEP 1 1 26 22 678 AA 0.999892 0.99921 0 + 5 60 148 0 0 9.198463 71 60 2007 120 ENST00000329553.2 0.065789 0.999317 RIPPLY3 53820 __UNKNOWN__ __UNKNOWN__ 21 38391381 38391381 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:38391381G>A ENST00000329553.2 + 0 1657 RIPPLY3_ENST00000485272.1_3'UTR NM_018962.2 NP_061835.1 P57055 DSCR6_HUMAN ripply transcriptional repressor 3 NA NA heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NA cctgaccaacgtggagaaact 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037158 CCDS13648.1 21q22.2 2013-07-23 2013-07-23 2013-06-04 ENSG00000183145 ENSG00000183145 53820 3047 protein-coding gene gene with protein product 609892 Down syndrome critical region gene 6, ripply3 homolog (zebrafish) DSCR6 NA 10814524, 22354841 Standard NM_018962 NA Approved P57055 OTTHUMG00000086639 ENST00000329553.2:c.*874G>A chr21.hg19:g.38391381G>A NA hg19 CCDS13648.1 0.02 5.599777 AACxTGG COVERED NOVEL RIPPLY3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194703.1 43 12.978657 KEEP 1 5 141 93 3210 GG 1 1 0 + 10 60 287 0 0 16.58363 176 60 5864 419 ENST00000329553.2 0.053763 1 PIGP 51227 __UNKNOWN__ __UNKNOWN__ 21 38436750 38436750 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:38436750A>G ENST00000360525.4 - 0 1717 PIGP_ENST00000464265.1_3'UTR NM_153682.2 NP_710149.1 P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, class P NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021) phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176) kidney(1)|urinary_tract(1) 2 Myeloproliferative disorder(46;0.0412) acaggcatgaaccaccacatc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037162 CCDS13649.1, CCDS13650.1 21q22.2 2013-02-26 2006-06-28 2005-11-10 ENSG00000185808 ENSG00000185808 51227 2.4.1.198 Phosphatidylinositol glycan anchor biosynthesis 3046 protein-coding gene gene with protein product phosphatidylinositol-n-acetylglucosaminyltranferase subunit 605938 Down syndrome critical region gene 5, phosphatidylinositol glycan, class P DSCR5 NA 10814524, 15221505 Standard NM_153681 NR_028352 NA Approved DCRC, DSRC uc002yvw.1 P57054 OTTHUMG00000086653 ENST00000360525.4:c.*1132T>C chr21.hg19:g.38436750A>G NA B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6 hg19 CCDS13650.1 0.02 -0.342033 TGAxCCA COVERED NOVEL PIGP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194766.2 2 2.407483 KEEP 0 0 0 8 260 AA 0.99257 0.859313 0 - 5 60 176 0 0 13.561477 33 60 974 60 ENST00000360525.4 0.131579 0.865745 PSMG1 8624 __UNKNOWN__ __UNKNOWN__ 21 40547118 40547118 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:40547118T>C ENST00000331573.3 - 0 1730 NM_001261824.1|NM_003720.3 NP_001248753.1|NP_003711.1 O95456 PSMG1_HUMAN proteasome (prosome, macropain) assembly chaperone 1 NA NA cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 8 Prostate(19;8.44e-08) aatcccagcattttgggaggc 0.488 NA OREG0026220 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ006291 CCDS13660.1, CCDS13661.1 21q22.3 2007-10-23 2007-10-23 2007-10-23 ENSG00000183527 ENSG00000183527 8624 3043 protein-coding gene gene with protein product 605296 Down syndrome critical region gene 2 DSCR2 NA 10872820, 17189198 Standard NM_003720 NM_003720 NA Approved c21-LRP, LRPC21, PAC1 uc002yxi.4 O95456 OTTHUMG00000066034 ENST00000331573.3:c.*398A>G chr21.hg19:g.40547118T>C 894 B5BUN2|Q6FHA3|Q6FHD3|Q6S713 hg19 CCDS13660.1 0.02 1.906237 GCAxTTT COVERED NOVEL PSMG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141404.2 10 2.276978 KEEP 1 2 67 31 1000 TT 0.999998 0.979524 0 - 8 60 264 0 0 20.598405 43 60 1263 103 ENST00000331573.3 0.156863 0.979526 BRWD1 54014 __UNKNOWN__ __UNKNOWN__ 21 40577973 40577973 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:40577973C>G ENST00000380800.3 - 37 4463 BRWD1_ENST00000333229.2_Intron|BRWD1_ENST00000342449.3_Intron Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 NA NA cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ctgggtgacacagtgagactc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(170;988 1986 4794 16843 39731) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ002572 CCDS13662.1, CCDS13663.1, CCDS33557.1 21q22.2 2013-05-21 2005-05-13 2005-05-13 ENSG00000185658 ENSG00000185658 54014 WD repeat domain containing 12760 protein-coding gene gene with protein product chromosome 21 open reading frame 107, WD repeat domain 9 C21orf107, WDR9 NA Standard NM_033656 NM_033656 NA Approved FLJ11315, N143 uc002yxk.2 Q9NSI6 OTTHUMG00000066030 ENST00000380800.3:c.4364+60G>C chr21.hg19:g.40577973C>G NA C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1 hg19 0.02 -0.307045 ACAxAGT COVERED NOVEL BRWD1-016 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339983.1 5 2.745365 KEEP 0 1 37 22 787 CC 0.999892 0.800159 0 - 4 60 134 0 0 10.132782 27 60 928 76 ENST00000380800.3 0.129032 0.800245 LCA5L 150082 __UNKNOWN__ __UNKNOWN__ 21 40778900 40778900 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:40778900T>C ENST00000358268.2 - 10 1811 LCA5L_ENST00000288350.3_Intron|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000495240.1_Intron|LCA5L_ENST00000380671.2_Intron O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like NA NA breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) cacctgtaattccggcacttt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF121781 CCDS13665.1 21q22.2 2007-12-18 2007-12-18 2007-12-18 ENSG00000157578 ENSG00000157578 150082 1255 protein-coding gene gene with protein product chromosome 21 open reading frame 13 C21orf13 NA Standard NM_152505 XM_005260926 NA Approved MGC33295 uc002yxu.3 O95447 OTTHUMG00000066280 ENST00000358268.2:c.1283-362A>G chr21.hg19:g.40778900T>C NA D3DSI0|Q3ZCT0 hg19 CCDS13665.1 0.02 -0.210472 AATxCCG COVERED NOVEL LCA5L-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141807.2 5 2.708442 KEEP 0 0 0 9 291 TT 0.99254 0.518266 0 - 3 60 103 0 0 7.805611 21 60 616 48 ENST00000358268.2 0.125 0.522161 MX1 4599 __UNKNOWN__ __UNKNOWN__ 21 42803670 42803670 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:42803670A>G ENST00000398600.2 + 7 1004 MX1_ENST00000398598.3_Intron|MX1_ENST00000455164.2_Intron|MX1_ENST00000288383.6_5'UTR NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN MX dynamin-like GTPase 1 NA NA apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) caaagtgctgagattacaggc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13673.1, CCDS74796.1 21q22.3 2014-07-15 2014-07-15 ENSG00000157601 ENSG00000157601 4599 7532 protein-coding gene gene with protein product interferon-inducible protein p78 147150 myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78), myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) NA 17570575 Standard XM_005260979 NA Approved IFI-78K, MxA uc010goq.3 P20591 OTTHUMG00000086755 ENST00000398600.2:c.-21-307A>G chr21.hg19:g.42803670A>G NA B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3 hg19 CCDS13673.1 0.02 1.865541 CTGxGAT COVERED NOVEL MX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195161.2 8 6.154431 KEEP 0 1 36 33 1060 AA 0.999998 0.997161 0 + 5 60 156 0 1 10.338018 60 60 1815 132 ENST00000398600.2 0.076923 0.997163 PDE9A 5152 __UNKNOWN__ __UNKNOWN__ 21 44173947 44173947 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:44173947G>C ENST00000335512.4 + 9 620 PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000291539.6_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398236.3_Intron NM_001001567.1 NP_001001567.1 O76083 PDE9A_HUMAN phosphodiesterase 9A NA NA blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165) cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Caffeine(DB00201) gcactccagcgtgggcaagag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF048837 CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1 21q22.3 2005-11-29 ENSG00000160191 ENSG00000160191 5152 3.1.4.17 Phosphodiesterases 8795 protein-coding gene gene with protein product 602973 NA 9624146 Standard NM_001001584 NA Approved uc002zbm.3 O76083 OTTHUMG00000086825 ENST00000335512.4:c.556-153G>C chr21.hg19:g.44173947G>C NA B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0 hg19 CCDS33568.1 0.02 -0.289413 AGCxTGG COVERED NOVEL PDE9A-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195458.1 4 4.213249 KEEP 0 0 0 14 465 GG 0.995343 0.777423 0 + 4 60 125 0 0 9.492128 23 60 685 53 ENST00000335512.4 0.148148 0.78106 WDR4 10785 __UNKNOWN__ __UNKNOWN__ 21 44296862 44296862 __UNKNOWN__ Silent SNP G G C rs373268616 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:44296862G>C ENST00000398208.2 - 2 164 c.105C>G c.(103-105)ctC>ctG p.L35L WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Silent_p.L35L NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 WD repeat domain 4 NA NA haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) CATAGATGAAGAGGCTGTCAT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 92 85 87 NA NA NA 21 NA NA 44296862 2203 4300 6503 SO:0001819 synonymous_variant AJ243912 CCDS13691.1 21q22.3 2013-01-09 ENSG00000160193 ENSG00000160193 10785 WD repeat domain containing 12756 protein-coding gene gene with protein product TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae) 605924 NA 12403464 Standard NM_018669 NA Approved TRM82, TRMT82 uc002zci.4 P57081 OTTHUMG00000086826 ENST00000398208.2:c.105C>G chr21.hg19:g.44296862G>C NA hg19 CCDS13691.1 0.02 3.715743 GAAxAGG COVERED NOVEL WDR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195479.1 10 34.914213 KEEP 0 0 0 116 4166 GG 1 0.999999 0 - 27 60 918 0 0 77.010516 92 60 3097 351 ENST00000398208.2 0.226891 0.999999 PKNOX1 5316 __UNKNOWN__ __UNKNOWN__ 21 44441210 44441210 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:44441210T>C ENST00000291547.5 + 8 931 PKNOX1_ENST00000432907.2_Intron NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 NA NA angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 cagagcaagatcctgtctcaa 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13692.1, CCDS68211.1 21q22.3 2011-06-20 ENSG00000160199 ENSG00000160199 5316 Homeoboxes / TALE class 9022 protein-coding gene gene with protein product 602100 NA 9479508 Standard NM_001286258 NA Approved PREP1 uc002zcq.1 P55347 OTTHUMG00000086833 ENST00000291547.5:c.721-203T>C chr21.hg19:g.44441210T>C NA O00528|Q8IWT7 hg19 CCDS13692.1 0.02 -0.411745 AGAxCCT COVERED NOVEL PKNOX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195520.3 2 8.422267 KEEP 0 0 0 28 821 TT 0.999997 0.954488 0 + 3 60 102 0 0 6.940631 39 60 1050 87 ENST00000291547.5 0.071429 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 44467827 44467827 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:44467827A>G NA NA PKNOX1 (14136 upstream) : CBS (5473 downstream) NA NA NA ccaaagtgctaggattacagg 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.44467827A>G NA hg19 0.02 -0.17541 GCTxGGA COVERED NOVEL 0 5 3.310026 KEEP 2 0 0 11 346 AA 0.992708 0.384582 0 3 60 93 0 0 7.210506 15 60 442 43 0.166667 0.387407 PDXK 8566 __UNKNOWN__ __UNKNOWN__ 21 45180319 45180319 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:45180319G>A ENST00000291565.4 + 0 5497 PDXK_ENST00000468090.1_3'UTR|PDXK_ENST00000467908.1_3'UTR NM_003681.4 NP_003672.1 O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase NA NA cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270) endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) cggcctcccagagtgctggga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U89606 CCDS13699.1 21q22.3 2007-05-10 ENSG00000160209 ENSG00000160209 8566 2.7.1.35 8819 protein-coding gene gene with protein product 179020 chromosome 21 open reading frame 97, chromosome 21 open reading frame 124 C21orf97, C21orf124 NA 9099727 Standard NM_003681 NM_003681 NA Approved PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873 uc002zdm.4 O00764 OTTHUMG00000086870 ENST00000291565.4:c.*4375G>A chr21.hg19:g.45180319G>A NA Q7Z2Y0|Q9BS02 hg19 CCDS13699.1 0.02 1.059245 CCAxAGT COVERED NOVEL PDXK-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195636.1 10 6.053539 KEEP 0 1 34 32 1140 GG 0.999998 0.999928 0 + 5 60 141 0 0 8.207357 82 60 2736 165 ENST00000291565.4 0.057471 0.99993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 45275574 45275574 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:45275574T>C NA NA AP001053.11 (43126 upstream) : AGPAT3 (9492 downstream) NA NA NA cgtgagccactgtgcccagcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.45275574T>C NA hg19 0.02 -0.289403 CACxGTG COVERED NOVEL 0 0 5.114054 KEEP 0 0 0 17 508 TT 0.999366 0.760405 0 3 60 95 0 0 6.65355 28 60 812 58 0.096774 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 45642783 45642783 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:45642783C>T NA NA AP001058.3 (15501 upstream) : ICOSLG (90 downstream) NA NA NA gagatggggtctcaccatgtt 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.45642783C>T NA hg19 0.02 -0.210492 GGTxTCA COVERED NOVEL 0 2 3.912034 KEEP 0 0 0 13 420 CC 0.994391 0.519232 0 3 60 87 0 0 6.328105 19 60 592 44 0.136364 0.522161 ICOSLG 23308 __UNKNOWN__ __UNKNOWN__ 21 45644351 45644351 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:45644351T>C ENST00000407780.3 - 0 5602 ICOSLG_ENST00000344330.4_Intron NM_001283052.1 NP_001269981.1 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand NA NA B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor binding (GO:0005102) endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) ctttgggaggtcgaggtgggc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014553 CCDS42952.1, CCDS63377.1, CCDS63379.1 21q22.3 2014-01-30 2005-01-12 ENSG00000160223 ENSG00000160223 23308 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Endogenous ligands 17087 protein-coding gene gene with protein product B7-related protein 1, B7 homologue 2, B7 homolog 2 605717 ICOSL NA 9734811, 11007762 Standard NM_015259 NM_001283050 NA Approved KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275 uc002zee.3 O75144 OTTHUMG00000086920 ENST00000407780.3:c.*4566A>G chr21.hg19:g.45644351T>C NA A8MUZ1|Q9HD18|Q9NRQ1 hg19 CCDS42952.1 0.02 5.809557 AGGxCGA COVERED NOVEL ICOSLG-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000195838.1 38 3.587817 KEEP 1 5 178 74 2375 TT 1 1 0 - 7 60 236 0 0 14.565118 148 60 4415 360 ENST00000407780.3 0.045161 1 KRTAP10-5 386680 __UNKNOWN__ __UNKNOWN__ 21 45999716 45999716 __UNKNOWN__ Missense_Mutation SNP T T C rs7509970 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:45999716T>C ENST00000400372.1 - 1 765 c.740A>G c.(739-741)tAc>tGc p.Y247C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 247 22 X 5 AA repeats of C-C-X(3). NA Y -> C (in dbSNP:rs7509970). keratin filament (GO:0045095) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GCTGGCCTGGTAGGAGGAGGC 0.721 NA .||| 681 0.135982 0.2133 0.0706 5008 , , NA 18145 0.1756 NA 0.0537 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 C ,CYS/TYR 732,3670 73,586,1542 32 43 40 NA ,740 3.4 0.2 21 dbSNP_116 40 349,8239 10,329,3955 no intron,missense TSPEAR,KRTAP10-5 NM_144991.2,NM_198694.2 ,194 83,915,5497 CC,CT,TT NA 4.0638,16.6288,8.3218 ,benign ,247/272 45999716 1081,11909 2201 4294 6495 SO:0001583 missense AJ566384 CCDS42958.1 21q22.3 2007-10-05 ENSG00000241123 ENSG00000241123 386680 Keratin associated proteins 22969 protein-coding gene gene with protein product KRTAP18-5 NA Standard NM_198694 NA Approved KAP10.5, KAP18.5 uc002zfl.1 P60370 OTTHUMG00000057638 ENST00000400372.1:c.740A>G chr21.hg19:g.45999716T>C ENSP00000383223:p.Tyr247Cys NA Q0VAR7|Q0VAR8|Q70LJ3 hg19 CCDS42958.1 0.02 1.743312 TGGxAGG COVERED 269 0.12316849816849818 104 0.21138211382113822 27 0.07458563535911603 107 0.18706293706293706 31 0.040897097625329816 c 0 -2.696963 0.00098 0.166288 0.040638 ENSG00000241123 ENST00000400372 T 0.00651 5.97 3.43 3.43 0.39272 . . . . . T 0.00012 0.0000 N 0.00012 -2.955 0.80722 P 0.0 B 0.12013 0.005 B 0.01281 0.0 T 0.29119 -1.0022 8 0.02654 T 1 . 5.1866 0.15187 0.0:0.6694:0.2103:0.1203 rs7509970 247 P60370 KR105_HUMAN C 247 ENSP00000383223:Y247C ENSP00000383223:Y247C Y - 2 0 KRTAP10-5 44824144 1.000000 0.71417 0.234000 0.24042 0.007000 0.05969 1.325000 0.33724 0.785000 0.33685 -0.374000 0.07098 TAC NOVEL KRTAP10-5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128042.1 1 3.910613 KEEP 0 0 0 13 384 TT 0.994391 0.994015 0 - 7 33 220 0 0 14.863631 78 60 2081 131 ENST00000400372.1 0.082353 0.999622 KRTAP10-9 386676 __UNKNOWN__ __UNKNOWN__ 21 46048167 46048167 __UNKNOWN__ 3'UTR SNP G G T rs9979752 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:46048167G>T ENST00000397911.3 + 0 1128 KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 NA NA keratin filament (GO:0045095) endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 TTCTCCTCACGGTGCTTCCTG 0.716 NA g||| 2963 0.591653 0.4894 0.6182 5008 , , NA 9376 0.6042 NA 0.66 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ566386 CCDS42961.1 21q22.3 2007-10-05 ENSG00000221837 ENSG00000221837 386676 Keratin associated proteins 22971 protein-coding gene gene with protein product KRTAP18-9 NA Standard NM_198690 NA Approved KAP10.9, KAP18.9 uc002zfp.4 P60411 OTTHUMG00000057637 ENST00000397911.3:c.*200G>T chr21.hg19:g.46048167G>T NA A2RRG1|A6NIR9|Q70LJ1 hg19 CCDS42961.1 0.02 2.835854 CACxGTG COVERED NOVEL KRTAP10-9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128040.1 2 3.696696 KEEP 1 3 84 42 1379 GG 1 1 0 + 10 40 269 0 0 16.164392 127 60 4159 273 ENST00000397911.3 0.072993 1 SUMO3 6612 __UNKNOWN__ __UNKNOWN__ 21 46228413 46228413 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:46228413A>G ENST00000397893.3 - 4 292 c.293T>C c.(292-294)tTt>tCt p.F98S SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000411651.2_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397898.3_Intron small ubiquitin-like modifier 3 NA NA prostate(1) 1 Colorectal(79;0.058) ctgggcaacaaagcgagactc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS33587.1, CCDS68220.1 21q22.3 2013-06-05 2013-06-05 2004-05-19 ENSG00000184900 ENSG00000184900 6612 11124 protein-coding gene gene with protein product 602231 SMT3 (suppressor of mif two 3, yeast) homolog 1, SMT3 suppressor of mif two 3 homolog 3 (yeast), SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae) SMT3H1 NA 9119407 Standard NM_006936 NA Approved SMT3A uc002zfz.1 P55854 OTTHUMG00000090256 ENST00000397893.3:c.293T>C chr21.hg19:g.46228413A>G ENSP00000380990:p.Phe98Ser NA hg19 0.02 3.804549 ACAxAGC COVERED . . . . . . . . . . A 0 -2.671580 0.00104 . . ENSG00000184900 ENST00000397893 T 0.13538 2.58 0.483 -0.966 0.10320 . . . . . T 0.09862 0.0242 . . . 0.09310 N 1 . . . . . . T 0.30297 -0.9983 5 0.46703 T 0.11 . . . . . . . . S 98 ENSP00000380990:F98S ENSP00000380990:F98S F - 2 0 SUMO3 45052841 0.005000 0.15991 0.019000 0.16419 0.018000 0.09664 -0.476000 0.06591 -1.545000 0.01719 -1.600000 0.00815 TTT NOVEL SUMO3-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000206564.1 24 9.063059 KEEP 2 4 149 82 2638 AA 1 1 0 - 5 60 171 0 2 10.357654 121 60 3556 330 ENST00000397893.3 0.039683 1 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47615470 47615470 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:47615470C>T ENST00000397728.3 - 19 1896 LSS_ENST00000457828.2_Intron|LSS_ENST00000522411.1_Intron|LSS_ENST00000356396.4_Intron NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) agcgagactccgtctcaaaaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.1817+119G>A chr21.hg19:g.47615470C>T NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 1.175317 CTCxGTC COVERED NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 3 15.335155 KEEP 0 0 0 51 1658 CC 1 0.999895 0 - 6 60 186 1 0 11.897561 84 60 2725 170 ENST00000397728.3 0.066667 0.999895 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47627532 47627532 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:47627532C>T ENST00000397728.3 - 15 1396 LSS_ENST00000457828.2_Intron|LSS_ENST00000522411.1_Intron|LSS_ENST00000356396.4_Intron NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) GGGGTGTCCACACCCCAGTTC 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 51 47 48 NA NA NA 21 NA NA 47627532 2202 4297 6499 SO:0001627 intron_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.1318-41G>A chr21.hg19:g.47627532C>T NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 1.068665 CCAxACC COVERED NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 1 12.038525 KEEP 0 0 0 40 1395 CC 1 0.999907 0 - 34 60 886 0 0 78.305071 59 60 1910 183 ENST00000397728.3 0.365591 0.999907 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47976354 47976354 __UNKNOWN__ Intron SNP C C T rs569632056 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:47976354C>T ENST00000400274.1 + 29 3719 DIP2A_ENST00000318711.7_Intron|DIP2A_ENST00000427143.2_3'UTR|DIP2A_ENST00000417564.2_Intron Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) cccagcacttcgggaggccga 0.502 NA T||| 1 0.000199681 8e-04 0 5008 , , NA 14848 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 82 76 78 NA NA NA 21 NA NA 47976354 692 1591 2283 SO:0001627 intron_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.3486+350C>T chr21.hg19:g.47976354C>T NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 2.778126 CTTxGGG COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 3 5.511536 KEEP 1 3 96 52 1608 CC 1 1 0 + 7 60 211 0 0 13.02585 107 60 3304 204 ENST00000400274.1 0.061404 1 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47988169 47988169 __UNKNOWN__ 3'UTR SNP T T C rs9941896 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr21:47988169T>C ENST00000400274.1 + 0 5571 DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000318711.7_3'UTR|DIP2A_ENST00000417564.2_3'UTR Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) cacggtggcttacacctgtaa 0.572 NA C||| 642 0.128195 0.3018 0.0749 5008 , , NA 18212 0.003 NA 0.0875 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.*634T>C chr21.hg19:g.47988169T>C NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 -0.350719 GCTxACA COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 3 3.292177 KEEP 0 0 0 11 287 TT 0.993072 0.871627 0 + 3 60 103 0 0 7.287394 32 60 866 65 ENST00000400274.1 0.085714 0.877708 AP000525.9 0 __UNKNOWN__ __UNKNOWN__ 22 16157913 16157913 __UNKNOWN__ RNA SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16157913T>G ENST00000447898.1 - 0 293 NA NA NA GATGGCGGGCTTCGGGTGGGA 0.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000447898.1: chr22.hg19:g.16157913T>G NA hg19 0.02 1.888688 GGCxTCG COVERED . . . . . . . . . . t 0.594 -0.831616 0.02713 . . ENSG00000206252 ENST00000383146 . . . . . . . . . . . T 0.24431 0.0592 . . . 0.09310 N 1 . . . . . . T 0.29150 -1.0021 3 0.87932 D 0 . . . . . . . . T 9 . ENSP00000384224:K9T K - 2 0 AP000525.1 14537913 0.000000 0.05858 0.001000 0.08648 0.004000 0.04260 -3.200000 0.00561 -2.346000 0.00621 -2.137000 0.00340 AAG NOVEL AP000525.9-002 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000276780.1 0 3.310082 KEEP 5 0 0 11 354 TT 0.993072 0.975153 0 - 10 46 324 0 0 26.308276 40 50 1186 99 ENST00000447898.1 0.2 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16414371 16414371 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16414371G>A NA NA LA16c-2F2.8 (37316 upstream) : LA16c-23H5.4 (2897 downstream) NA NA NA TCCTTTCCCCGGAGCACTCGG 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16414371G>A NA hg19 0.02 3.946326 CCCxGAG COVERED NOVEL 0 3 10.845057 KEEP 118 9 273 132 4531 GG 1 1 0 8 40 236 0 0 13.132556 177 50 5897 565 0.043243 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16883202 16883202 __UNKNOWN__ IGR SNP A A C rs112113438 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16883202A>C NA NA AP000539.2 (307011 upstream) : KB-67B5.17 (118746 downstream) NA NA NA atatggaaccaaaagagagcc 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16883202A>C NA hg19 0.02 -0.114032 ACCxAAA UNCOVERED NOVEL 0 5 2.407489 KEEP 18 0 0 8 257 AA 0 0 0 4 60 141 0 0 13.323841 5 49 147 54 0.444444 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16883211 16883211 __UNKNOWN__ IGR SNP C C T rs202208585 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16883211C>T NA NA AP000539.2 (307020 upstream) : KB-67B5.17 (118737 downstream) NA NA NA caaaagagagccatgtagcca 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16883211C>T NA hg19 0.02 -0.11404 GAGxCAT UNCOVERED NOVEL 0 5 2.708891 KEEP 23 0 0 9 325 CC 0 0 0 3 60 92 0 0 8.143262 6 60 202 62 0.333333 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16883229 16883229 __UNKNOWN__ IGR SNP G G T rs377330772 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16883229G>T NA NA AP000539.2 (307038 upstream) : KB-67B5.17 (118719 downstream) NA NA NA ccaaaccaaggctaagcaaaa 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16883229G>T NA hg19 0.02 -0.105258 AAGxCTA UNCOVERED NOVEL 0 7 3.310993 KEEP 29 0 0 11 406 GG 0 0 0 4 43 123 0 0 11.076693 7 49 234 70 0.363636 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16883266 16883266 __UNKNOWN__ IGR SNP C C T rs112298949 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16883266C>T NA NA AP000539.2 (307075 upstream) : KB-67B5.17 (118682 downstream) NA NA NA catcacactacttgatttcaa 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16883266C>T NA hg19 0.02 -0.078845 CTAxTTG UNCOVERED NOVEL 0 7 3.310689 KEEP 26 0 0 11 379 CC 0 0 0 3 40 89 0 0 8.25816 4 24 114 57 0.428571 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16915359 16915359 __UNKNOWN__ IGR SNP A A T rs189025564 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16915359A>T NA NA AP000539.2 (339168 upstream) : KB-67B5.17 (86589 downstream) NA NA NA tggcataatcatagctcactg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16915359A>T NA hg19 0.02 -0.333259 ATCxTAG COVERED NOVEL 0 17 4.212423 KEEP 17 0 0 14 429 AA 0.992708 0.845771 0 4 25 118 0 0 8.260038 32 60 938 87 0.111111 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16924071 16924071 __UNKNOWN__ IGR SNP C C T rs370083311 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16924071C>T NA NA AP000539.2 (347880 upstream) : KB-67B5.17 (77877 downstream) NA NA NA taaagcaatcctcccacctca 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16924071C>T NA hg19 0.02 -0.403118 ATCxTCC COVERED NOVEL 0 16 3.912881 KEEP 13 0 0 13 475 CC 0.993072 0.928018 0 4 60 120 0 0 8.052791 41 60 1406 102 0.088889 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16945762 16945762 __UNKNOWN__ IGR SNP C C T rs62221478 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16945762C>T NA NA AP000539.2 (369571 upstream) : KB-67B5.17 (56186 downstream) NA NA NA ccacaacacccggcaattttt 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16945762C>T NA hg19 0.02 -0.192973 ACCxGGC COVERED NOVEL 0 3 2.407403 KEEP 6 0 0 8 260 CC 0.99257 0.454356 0 3 60 92 0 0 6.827348 19 60 607 42 0.136364 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16955863 16955863 __UNKNOWN__ IGR SNP C C G rs9680783 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:16955863C>G NA NA AP000539.2 (379672 upstream) : KB-67B5.17 (46085 downstream) NA NA NA TATTTGAATAcagtaagttct 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16955863C>G NA hg19 0.02 -0.157905 ATAxAGT COVERED NOVEL 0 5 3.611893 KEEP 1 0 0 12 433 CC 0.993634 0.320751 0 3 49 97 0 0 7.609939 15 60 506 40 0.166667 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 17373632 17373632 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:17373632C>G NA NA AC007064.24 (21616 upstream) : GAB4 (69193 downstream) NA NA NA tcaaaggatcctcttgccatg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.17373632C>G NA hg19 0.02 -0.27195 ATCxTCT COVERED NOVEL 0 15 4.514854 KEEP 8 0 0 15 538 CC 0.994391 0.713292 0 3 45 101 0 0 7.392002 25 46 859 75 0.107143 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 17495914 17495914 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:17495914C>T NA NA GAB4 (6802 upstream) : CECR7 (21545 downstream) NA NA NA agcaatcttcccacctcagcc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.17495914C>T NA hg19 0.02 -0.332923 TTCxCAC COVERED NOVEL 0 20 2.407838 KEEP 8 0 0 8 283 CC 0.99257 0.845654 0 3 33 94 0 0 6.646944 26 60 859 80 0.103448 0.851984 IL17RA 23765 __UNKNOWN__ __UNKNOWN__ 22 17591336 17591336 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:17591336C>T ENST00000319363.6 + 0 3360 NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A NA NA cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) interleukin-17 receptor activity (GO:0030368) endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) tgcagtgagccgagattgtgc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U58917 CCDS13739.1 22q11.1 2014-09-17 2006-04-26 2006-04-26 ENSG00000177663 ENSG00000177663 23765 Interleukins and interleukin receptors, CD molecules 5985 protein-coding gene gene with protein product 605461 interleukin 17 receptor IL17R NA 9367539, 10591208 Standard NM_014339 NM_014339 NA Approved hIL-17R, IL-17RA, CDw217, CD217 uc002zly.4 Q96F46 OTTHUMG00000150026 ENST00000319363.6:c.*626C>T chr22.hg19:g.17591336C>T NA O43844|Q20WK1 hg19 CCDS13739.1 0.02 2.705985 AGCxGAG COVERED NOVEL IL17RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315820.1 15 6.95595 KEEP 3 1 28 33 1104 CC 0.999998 0.999998 0 + 7 60 170 1 0 9.129939 107 60 3416 183 ENST00000319363.6 0.061404 0.999999 ATP6V1E1 529 __UNKNOWN__ __UNKNOWN__ 22 18075592 18075592 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:18075592G>A ENST00000253413.5 - 9 801 ATP6V1E1_ENST00000399798.2_Intron|ATP6V1E1_ENST00000399796.2_Intron NM_001696.3 NP_001687.1 P36543 VATE1_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178) ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_epithelial(15;0.206) Lung(27;0.19) tttttgagacggagtctcgct 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X76228 CCDS13745.1, CCDS42977.1, CCDS42978.1 22q11.2 2010-04-21 2006-01-13 2002-06-21 ENSG00000131100 ENSG00000131100 529 3.6.3.14 ATPases / V-type 857 protein-coding gene gene with protein product 108746 ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD, ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 ATP6E, ATP6V1E NA 8004105, 8250920 Standard NM_001696 NM_001696 NA Approved P31, Vma4, ATP6E2 uc002zmr.1 P36543 OTTHUMG00000059320 ENST00000253413.5:c.619-90C>T chr22.hg19:g.18075592G>A NA A8MUE4|A8MUN4 hg19 CCDS13745.1 0.02 1.278139 GACxGAG COVERED NOVEL ATP6V1E1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131790.3 3 12.339089 KEEP 1 0 0 41 1395 GG 1 0.997163 0 - 4 51 122 1 0 7.888342 51 60 1687 123 ENST00000253413.5 0.072727 0.997163 BCL2L13 23786 __UNKNOWN__ __UNKNOWN__ 22 18187396 18187396 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:18187396T>G ENST00000317582.5 + 6 947 BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000418951.2_Intron NM_015367.3 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634) cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656) breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) acaaaaatcatctgggtgtgg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF146568 CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1 22q11 2014-03-07 ENSG00000099968 ENSG00000099968 23786 17164 protein-coding gene gene with protein product NA 11262395, 11381032 Standard NM_015367 NM_015367 NA Approved MIL1, BCL-RAMBO uc002zmw.4 Q9BXK5 OTTHUMG00000150088 ENST00000317582.5:c.600+2244T>G chr22.hg19:g.18187396T>G NA B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3 hg19 CCDS13746.1 0.02 -0.429769 TCAxCTG COVERED NOVEL BCL2L13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316184.1 14 2.543362 KEEP 1 1 36 21 675 TT 0.999879 0.954375 0 + 3 60 104 0 0 7.077089 41 60 1253 108 ENST00000317582.5 0.068182 0.954491 BCL2L13 23786 __UNKNOWN__ __UNKNOWN__ 22 18187940 18187940 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:18187940A>G ENST00000317582.5 + 6 947 BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000418951.2_Intron NM_015367.3 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634) cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656) breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) ttgggaggctaaggcaggaga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF146568 CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1 22q11 2014-03-07 ENSG00000099968 ENSG00000099968 23786 17164 protein-coding gene gene with protein product NA 11262395, 11381032 Standard NM_015367 NM_015367 NA Approved MIL1, BCL-RAMBO uc002zmw.4 Q9BXK5 OTTHUMG00000150088 ENST00000317582.5:c.600+2788A>G chr22.hg19:g.18187940A>G NA B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3 hg19 CCDS13746.1 0.02 -0.210367 GCTxAGG COVERED NOVEL BCL2L13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316184.1 0 4.210178 KEEP 0 0 0 14 396 AA 0.995343 0.519729 0 + 5 60 151 0 0 12.154804 19 60 488 45 ENST00000317582.5 0.208333 0.522161 PEX26 55670 __UNKNOWN__ __UNKNOWN__ 22 18561285 18561285 __UNKNOWN__ Missense_Mutation SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:18561285A>G ENST00000428061.2 + 1 143 c.143A>G c.(142-144)cAc>cGc p.H48R PEX26_ENST00000399744.3_Missense_Mutation_p.H48R|PEX26_ENST00000329627.7_Missense_Mutation_p.H48R|XXbac-B476C20.9_ENST00000607927.1_RNA NM_001199319.1 NP_001186248.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 48 NA protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046) integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777) ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403) breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CTGGTGGTGCACCTGGACTTC 0.761 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 5 5 5 NA NA NA 22 NA NA 18561285 2035 4039 6074 SO:0001583 missense AB089678 CCDS13750.1, CCDS56221.1 22q11.21 2008-08-26 2008-08-26 ENSG00000215193 ENSG00000215193 55670 22965 protein-coding gene gene with protein product 608666 peroxisome biogenesis factor 26 NA 12717447, 12851857 Standard NM_017929 NM_017929 NA Approved FLJ20695 uc002znp.4 Q7Z412 OTTHUMG00000149970 ENST00000428061.2:c.143A>G chr22.hg19:g.18561285A>G ENSP00000412441:p.His48Arg NA F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0 hg19 CCDS56221.1 0.02 5.233373 TGCxCCT COVERED . . . . . . . . . . A 8.803 0.933476 0.18206 . . ENSG00000215193 ENST00000329627;ENST00000399744;ENST00000428061;ENST00000399746 D;D;D 0.93547 -3.24;-3.24;-3.24 5.51 5.51 0.81932 . 0.758828 0.11286 U 0.579854 D 0.90628 0.7061 L 0.55103 1.725 0.32067 N 0.594889 B;B 0.21071 0.041;0.051 B;B 0.26094 0.066;0.062 D 0.83620 0.0139 10 0.06757 T 0.87 -11.2287 13.0039 0.58692 1.0:0.0:0.0:0.0 . 48;48 F6UBB5;Q7Z412 .;PEX26_HUMAN R 48 ENSP00000331106:H48R;ENSP00000382648:H48R;ENSP00000412441:H48R ENSP00000331106:H48R H + 2 0 PEX26 16941285 1.000000 0.71417 1.000000 0.80357 0.154000 0.21943 5.138000 0.64795 2.084000 0.62774 0.533000 0.62120 CAC NOVEL PEX26-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000314646.1 1 33.385421 KEEP 0 0 0 111 3289 AA 1 1 0 + 19 60 596 0 0 42.577287 156 60 4461 352 ENST00000428061.2 0.108571 1 PEX26 55670 __UNKNOWN__ __UNKNOWN__ 22 18572747 18572747 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:18572747T>C ENST00000329627.7 + 0 3030 NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 NA NA protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046) integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777) ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403) breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ggattacaggtgtgagccatc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB089678 CCDS13750.1, CCDS56221.1 22q11.21 2008-08-26 2008-08-26 ENSG00000215193 ENSG00000215193 55670 22965 protein-coding gene gene with protein product 608666 peroxisome biogenesis factor 26 NA 12717447, 12851857 Standard NM_017929 NM_017929 NA Approved FLJ20695 uc002znp.4 Q7Z412 OTTHUMG00000149970 ENST00000329627.7:c.*1906T>C chr22.hg19:g.18572747T>C NA F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0 hg19 CCDS13750.1 0.02 -0.394543 AGGxGTG COVERED NOVEL PEX26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314644.3 4 4.812646 KEEP 0 0 0 16 469 TT 0.997832 0.924631 0 + 3 60 97 0 0 6.44152 39 60 1089 86 ENST00000329627.7 0.071429 0.92664 GSC2 2928 __UNKNOWN__ __UNKNOWN__ 22 19137274 19137274 __UNKNOWN__ Nonsense_Mutation SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:19137274G>A ENST00000086933.2 - 2 414 c.415C>T c.(415-417)Cag>Tag p.Q139* NM_005315.1 NP_005306.1 O15499 GSC2_HUMAN goosecoid homeobox 2 139 NA anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|large_intestine(1)|lung(2) 4 Colorectal(54;0.0993) TCGAGCGCCTGCAGCTGCTCT 0.721 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 9 11 10 NA NA NA 22 NA NA 19137274 2121 4195 6316 SO:0001587 stop_gained CCDS13757.1 22q11.21 2011-06-20 2007-08-28 2007-08-28 ENSG00000063515 ENSG00000063515 2928 Homeoboxes / PRD class 4613 protein-coding gene gene with protein product 601845 goosecoid-like GSCL NA 9150167 Standard NM_005315 NM_005315 NA Approved uc011ags.2 O15499 OTTHUMG00000150122 ENST00000086933.2:c.415C>T chr22.hg19:g.19137274G>A ENSP00000086933:p.Gln139* NA hg19 CCDS13757.1 0.02 5.235863 CCTxCAG COVERED . . . . . . . . . . g 33 5.262827 0.95399 . . ENSG00000063515 ENST00000086933 . . . 4.55 4.55 0.56014 . 0.116551 0.56097 D 0.000030 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.56958 D 0.05 -23.7862 17.3171 0.87227 0.0:0.0:1.0:0.0 . . . . X 139 . ENSP00000086933:Q139X Q - 1 0 GSC2 17517274 1.000000 0.71417 1.000000 0.80357 0.865000 0.49528 3.724000 0.54962 2.244000 0.73946 0.450000 0.29827 CAG NOVEL GSC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316440.2 0 20.955024 KEEP 0 1 17 76 2671 GG 1 1 0 - 88 60 2416 0 0 219.027773 133 60 4506 438 ENST00000086933.2 0.39819 1 CLTCL1 8218 __UNKNOWN__ __UNKNOWN__ 22 19207258 19207258 __UNKNOWN__ Intron SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:19207258T>G ENST00000263200.10 - 18 2992 CLTCL1_ENST00000427926.1_Intron|CLTCL1_ENST00000353891.5_Intron NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 NA NA anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165) clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802) signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) gcctcccaaattgctggcatt 0.468 NA T ? ALCL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 22 22q11.21 8218 clathrin, heavy polypeptide-like 1 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2 22q11.2 2008-06-10 2006-09-29 ENSG00000070371 ENSG00000070371 8218 2093 protein-coding gene gene with protein product 601273 clathrin, heavy polypeptide-like 1 CLTCL NA 8844170, 15133132 Standard NM_007098 NM_007098 NA Approved CLTD, CLH22, CHC22 uc021wle.1 P53675 OTTHUMG00000150109 ENST00000263200.10:c.2919+135A>C chr22.hg19:g.19207258T>G NA B7Z7U5|Q14017|Q15808|Q15809 hg19 CCDS46662.1 0.02 -0.245396 AAAxTGC COVERED NOVEL CLTCL1-001 KNOWN non_canonical_genome_sequence_error|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316397.5 2 4.210618 KEEP 0 0 0 14 400 TT 0.995343 0.638361 0 - 3 60 100 0 0 7.506928 21 60 547 48 ENST00000263200.10 0.125 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 19281439 19281439 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:19281439T>C NA NA CLTCL1 (2200 upstream) : HIRA (36781 downstream) NA NA NA ggattacaggtgtgagccacc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.19281439T>C NA hg19 0.02 -0.280648 AGGxGTG COVERED NOVEL 0 7 3.008665 KEEP 1 0 0 10 302 TT 0.992708 0.734278 0 3 60 100 0 0 7.292659 25 60 746 58 0.107143 0.739671 HIRA 7290 __UNKNOWN__ __UNKNOWN__ 22 19423686 19423686 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:19423686A>G ENST00000541063.1 - 1 37 HIRA_ENST00000546308.1_Intron P54198 HIRA_HUMAN histone cell cycle regulator NA NA anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) gagtgcagtgacgcaatctcg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X75296 CCDS13759.1 22q11.2 2013-05-03 2013-05-03 ENSG00000100084 ENSG00000100084 7290 WD repeat domain containing 4916 protein-coding gene gene with protein product DiGeorge critical region gene 1 600237 HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae), HIR histone cell cycle regulation defective homolog A (S. cerevisiae) TUPLE1 NA 8111380, 7633437, 9731536 Standard NM_003325 NM_003325 NA Approved DGCR1, TUP1 uc002zpf.1 P54198 OTTHUMG00000150134 ENST00000541063.1:c.94+11501T>C chr22.hg19:g.19423686A>G NA Q05BU9|Q8IXN2 hg19 0.02 -0.289369 GTGxCGC COVERED NOVEL HIRA-201 KNOWN basic protein_coding NA protein_coding 3 2.843022 KEEP 0 1 39 23 671 AA 0.999909 0.760818 0 - 3 60 96 0 0 6.943365 24 60 652 63 ENST00000541063.1 0.111111 0.760887 C22orf39 128977 __UNKNOWN__ __UNKNOWN__ 22 19429362 19429362 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:19429362T>C ENST00000399562.4 - 0 3287 HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|C22orf39_ENST00000542103.1_Intron|C22orf39_ENST00000399568.1_Intron NM_173793.4 NP_776154.3 Q6P5X5 CV039_HUMAN chromosome 22 open reading frame 39 NA NA NA Colorectal(54;0.0993) gtcacccaggttgaagtgcag 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33599.1, CCDS33599.2, CCDS54498.1 22q11.21 2008-10-31 ENSG00000242259 ENSG00000242259 128977 27012 protein-coding gene gene with protein product NA Standard NM_173793 NM_173793 NA Approved MGC74441 uc002zpk.2 Q6P5X5 OTTHUMG00000150137 ENST00000399562.4:c.*2426A>G chr22.hg19:g.19429362T>C NA A8MTW6|D3DX18|F5H3A8|J3KNP9 hg19 CCDS33599.2 0.02 -0.289407 AGGxTGA COVERED NOVEL C22orf39-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000316494.3 1 3.611424 KEEP 0 0 0 12 397 TT 0.993634 0.756043 0 - 4 60 123 0 0 9.096484 26 60 770 48 ENST00000399562.4 0.133333 0.760887 GNB1L 54584 __UNKNOWN__ __UNKNOWN__ 22 19771051 19771051 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:19771051T>C ENST00000329517.6 - 0 6401 TBX1_ENST00000359500.3_3'UTR NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like NA NA G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898) breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) ccagcctgggtgacagagtga 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF238328 CCDS13768.1 22q11.2 2013-05-21 ENSG00000185838 ENSG00000185838 54584 WD repeat domain containing 4397 protein-coding gene gene with protein product 610778 NA 11072084 Standard NM_053004 NA Approved GY2, WDR14 uc002zqf.1 Q9BYB4 OTTHUMG00000150279 ENST00000329517.6:c.*5181A>G chr22.hg19:g.19771051T>C NA Q9H2S2|Q9H4M4 hg19 CCDS13768.1 0.02 1.629151 GGGxGAC COVERED NOVEL GNB1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075202.1 5 5.716348 KEEP 0 0 0 19 566 TT 0.99986 0.992786 0 - 5 60 141 2 1 9.269501 53 60 1476 105 ENST00000329517.6 0.086207 0.992926 TXNRD2 10587 __UNKNOWN__ __UNKNOWN__ 22 19882472 19882472 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:19882472G>A ENST00000400521.1 - 11 956 TXNRD2_ENST00000542719.1_Intron|TXNRD2_ENST00000334363.9_3'UTR|TXNRD2_ENST00000400518.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000491939.1_5'UTR NM_006440.3 NP_006431.2 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 NA NA cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) cagcctgggcgacagagcgag 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF106697 CCDS42981.1, CCDS63402.1 22q11.21 2014-09-17 ENSG00000184470 ENSG00000184470 10587 18155 protein-coding gene gene with protein product thioredoxin reductase beta, selenoprotein Z 606448 NA 9923614, 10215850, 11012661 Standard NM_006440 NM_006440 NA Approved TR, TRXR2, TR3 uc021wlj.1 Q9NNW7 OTTHUMG00000149975 ENST00000400521.1:c.949+457C>T chr22.hg19:g.19882472G>A NA O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8 hg19 CCDS42981.1 0.02 -0.263135 GGCxACA COVERED NOVEL TXNRD2-003 KNOWN NMD_exception|basic|appris_candidate_longest|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000314903.3 3 3.606738 KEEP 1 0 0 12 377 GG 0.993634 0.689252 0 - 3 45 91 2 1 6.443698 24 60 753 49 ENST00000400521.1 0.111111 0.693668 TXNRD2 10587 __UNKNOWN__ __UNKNOWN__ 22 19898690 19898690 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:19898690C>G ENST00000400521.1 - 8 669 TXNRD2_ENST00000542719.1_Intron|TXNRD2_ENST00000334363.9_Intron|TXNRD2_ENST00000400518.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000491939.1_Intron NM_006440.3 NP_006431.2 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 NA NA cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) gaactcctggcctcaagcaat 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF106697 CCDS42981.1, CCDS63402.1 22q11.21 2014-09-17 ENSG00000184470 ENSG00000184470 10587 18155 protein-coding gene gene with protein product thioredoxin reductase beta, selenoprotein Z 606448 NA 9923614, 10215850, 11012661 Standard NM_006440 NM_006440 NA Approved TR, TRXR2, TR3 uc021wlj.1 Q9NNW7 OTTHUMG00000149975 ENST00000400521.1:c.662+209G>C chr22.hg19:g.19898690C>G NA O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8 hg19 CCDS42981.1 0.02 -0.236841 TGGxCTC COVERED NOVEL TXNRD2-003 KNOWN NMD_exception|basic|appris_candidate_longest|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000314903.3 2 2.407957 KEEP 0 0 0 8 291 CC 0.99257 0.607857 0 - 3 60 88 0 0 6.307532 21 60 703 38 ENST00000400521.1 0.125 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 20379008 20379008 __UNKNOWN__ IGR SNP G G A rs62218641 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:20379008G>A NA NA AC023490.2 (205 upstream) : AC023490.1 (267 downstream) NA NA NA GAGCAGCAGCGTGAGCGGGGC 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.20379008G>A NA hg19 0.02 -0.31577 AGCxTGA COVERED NOVEL 0 2 6.620215 KEEP 16 0 0 22 734 GG 0.999869 0.818358 0 11 49 321 0 0 27.724838 25 60 815 95 0.305556 0.818465 TMEM191A 84222 __UNKNOWN__ __UNKNOWN__ 22 21057355 21057355 __UNKNOWN__ RNA SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:21057355T>C ENST00000450925.2 + 0 1379 NR_026815.1 Q9H0A3 T191A_HUMAN transmembrane protein 191A (pseudogene) NA NA integral component of membrane (GO:0016021) NA GGAGGGGAACTGCAGAGCCAG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA AL136879 22q11.21 2012-04-20 2012-04-20 ENSG00000226287 ENSG00000226287 84222 25317 pseudogene pseudogene transmembrane protein 191A NA 11230166 Standard NR_026815 NA Approved DKFZp434N035, TMEM191AP uc002zsx.1 Q9H0A3 OTTHUMG00000150164 ENST00000450925.2: chr22.hg19:g.21057355T>C NA B2R8E2 hg19 0.02 3.558806 AACxGCA COVERED NOVEL TMEM191A-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000316649.1 1 6.78715 KEEP 3 2 67 46 1435 TT 1 0.999984 0 + 8 39 236 0 0 15.387076 97 60 2864 228 ENST00000450925.2 0.07619 0.999984 UBE2L3 7332 __UNKNOWN__ __UNKNOWN__ 22 21913059 21913059 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:21913059A>G ENST00000458578.2 + 1 204 NM_001256355.1 NP_001243284.1 P68036 UB2L3_HUMAN ubiquitin-conjugating enzyme E2L 3 NA NA cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842) UBE2L3/KRAS(2) large_intestine(4) 4 Colorectal(54;0.105) gattacaggcatgagccacca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ000519 CCDS13790.1, CCDS58795.1, CCDS58796.1 22q11.2 2007-02-05 ENSG00000185651 ENSG00000185651 7332 Ubiquitin-conjugating enzymes E2 12488 protein-coding gene gene with protein product 603721 NA 8672131, 9693040 Standard NM_198157 NM_001256356 NA Approved UBCH7 uc031rxe.1 P68036 OTTHUMG00000150823 ENST00000458578.2:c.201+9120A>G chr22.hg19:g.21913059A>G NA B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1 hg19 CCDS58795.1 0.02 1.657626 GGCxTGA COVERED NOVEL UBE2L3-201 KNOWN basic|CCDS protein_coding NA protein_coding 19 3.009137 KEEP 0 0 0 10 312 AA 0.992708 0.990279 0 + 4 60 135 0 0 9.000373 57 60 1654 118 ENST00000458578.2 0.065574 0.997553 PPIL2 23759 __UNKNOWN__ __UNKNOWN__ 22 22040008 22040008 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:22040008A>G ENST00000335025.8 + 11 805 PPIL2_ENST00000412327.1_Intron|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000406385.1_Intron|PPIL2_ENST00000492445.2_Intron|PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000398831.3_Intron peptidylprolyl isomerase (cyclophilin)-like 2 NA NA endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) aaagtgctggaattacaggtg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13793.1 22q11.21 2013-01-29 ENSG00000100023 ENSG00000100023 23759 U-box domain containing 9261 protein-coding gene gene with protein product U-box domain containing 7 607588 NA 10591208 Standard NM_014337 NA Approved UBOX7, CYC4, Cyp-60 uc002zvh.4 Q13356 OTTHUMG00000030174 ENST00000335025.8:c.715-764A>G chr22.hg19:g.22040008A>G NA hg19 CCDS13793.1 0.02 1.774696 TGGxATT COVERED . . . . . . . . . . A 1.243 -0.620800 0.03636 . . ENSG00000100023 ENST00000446951 T 0.26660 1.72 0.668 -1.34 0.09143 . . . . . T 0.12902 0.0313 . . . 0.09310 N 1 . . . . . . T 0.31308 -0.9948 5 0.21014 T 0.42 . . . . . . . . G 16 ENSP00000405214:E16G ENSP00000405214:E16G E + 2 0 PPIL2 20370008 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.250000 0.08830 -0.981000 0.03520 -0.624000 0.04008 GAA NOVEL PPIL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075028.4 9 4.213186 KEEP 1 0 0 14 456 AA 0.995343 0.992082 0 + 4 60 132 1 0 8.671577 58 60 1711 112 ENST00000335025.8 0.064516 0.996724 YPEL1 29799 __UNKNOWN__ __UNKNOWN__ 22 22055015 22055015 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:22055015T>C ENST00000339468.3 - 0 1146 NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) NA NA nucleus (GO:0005634) breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) ccacccatcttggcctcccaa 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF060862 CCDS13794.1 22q11.2 2008-02-04 2001-11-28 ENSG00000100027 ENSG00000100027 29799 12845 protein-coding gene gene with protein product 608082 yippee (Drosophila) homolog-like 1 NA 11473580 Standard NM_013313 NM_013313 NA Approved uc002zvl.3 O60688 OTTHUMG00000150830 ENST00000339468.3:c.*403A>G chr22.hg19:g.22055015T>C NA Q65ZA1|Q6GLI6 hg19 CCDS13794.1 0.02 1.479497 TCTxGGC COVERED NOVEL YPEL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320245.1 9 6.337985 KEEP 2 1 34 33 952 TT 0.999998 0.999405 0 - 5 60 152 1 0 9.773735 65 60 1750 152 ENST00000339468.3 0.071429 0.999407 BMS1P20 96610 __UNKNOWN__ __UNKNOWN__ 22 22661378 22661378 __UNKNOWN__ RNA SNP T T C rs76530335 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:22661378T>C ENST00000426066.1 + 0 360 NR_027293.1 BMS1 pseudogene 20 NA NA NA AAATGTTGGATACGTGCAGGT 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA 22q11.22 2013-09-20 ENSG00000236850 ENSG00000236850 96610 49153 pseudogene pseudogene NA Standard XR_430414 NA Approved OTTHUMG00000151046 ENST00000426066.1: chr22.hg19:g.22661378T>C NA hg19 0.02 -0.086331 GGAxACG UNCOVERED NOVEL BMS1P20-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000473090.1 2 2.407141 KEEP 1 0 0 8 244 TT 0.99257 0.09898 0 + 4 44 109 0 0 9.811994 6 60 164 19 ENST00000426066.1 0.4 0.099721 IGLV5-45 28781 __UNKNOWN__ __UNKNOWN__ 22 22730868 22730868 __UNKNOWN__ RNA SNP C C T rs201561764 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:22730868C>T ENST00000390296.2 + 0 391 immunoglobulin lambda variable 5-45 NA NA NA GGCACAGCAGCGCTTCTCACA 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 122 117 118 NA NA NA 22 NA NA 22730868 1927 4152 6079 Z73670 22q11.2 2012-02-08 ENSG00000211650 ENSG00000211650 28781 Immunoglobulins / IGL locus 5924 other immunoglobulin gene NA Standard NG_000002 NG_000002 NA Approved OTTHUMG00000151054 ENST00000390296.2: chr22.hg19:g.22730868C>T NA hg19 0.02 2.869523 CAGxGCT COVERED NOVEL IGLV5-45-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000321114.2 5 13.679218 KEEP 2 1 33 57 1984 CC 1 1 0 + 5 49 156 0 0 9.268846 100 60 3269 270 ENST00000390296.2 0.047619 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 22730907 22730907 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:22730907A>G NA NA IGLV5-45 (33 upstream) : IGLV1-44 (4227 downstream) NA NA NA GAAGTGGGACAAAAACCTCAC 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 83 80 81 NA NA NA 22 NA NA 22730907 1898 4126 6024 SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.22730907A>G NA hg19 0.02 3.426236 GACxAAA COVERED NOVEL 0 4 11.971379 KEEP 2 2 37 53 1617 AA 1 0.999999 0 5 49 164 0 0 10.309507 89 60 2589 262 0.053191 0.999999 RAB36 9609 __UNKNOWN__ __UNKNOWN__ 22 23505131 23505131 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:23505131C>T ENST00000263116.2 + 0 2422 NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family NA NA protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) ggagtttcacccttgttgccc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023061 CCDS13805.1 22q11.22 2008-06-11 ENSG00000100228 ENSG00000100228 9609 RAB, member RAS oncogene 9775 protein-coding gene gene with protein product 605662 NA 9920784, 10591208 Standard NM_004914 NM_004914 NA Approved uc002zwv.1 O95755 OTTHUMG00000150601 ENST00000263116.2:c.*1380C>T chr22.hg19:g.23505131C>T NA Q2M390|Q7Z4A9|Q9UHP5 hg19 CCDS13805.1 0.02 1.404131 CACxCTT COVERED NOVEL RAB36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319046.1 0 10.23252 KEEP 0 0 0 34 1158 CC 0.999998 0.995082 0 + 4 60 121 0 0 7.760064 52 70 1692 108 ENST00000263116.2 0.071429 0.995084 BCR 613 __UNKNOWN__ __UNKNOWN__ 22 23529791 23529791 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:23529791A>G ENST00000305877.8 + 1 2030 BCR_ENST00000359540.3_Intron|BCR_ENST00000398512.5_Intron NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region NA NA actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234) ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 Bosutinib(DB06616)|Ponatinib(DB08901) aaagtgctggaattacaggcg 0.448 NA T ABL1, FGFR1, JAK2 CML, ALL, AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 22 22q11.21 613 breakpoint cluster region L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13806.1, CCDS13807.1 22q11 2013-01-10 ENSG00000186716 ENSG00000186716 613 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 1014 protein-coding gene gene with protein product 151410 D22S11, BCR1 NA 1657398, 18070886 Standard NM_004327 NM_004327 NA Approved D22S662, CML, PHL, ALL uc002zww.3 P11274 OTTHUMG00000150655 ENST00000305877.8:c.1279+5365A>G chr22.hg19:g.23529791A>G NA P78501|Q12842|Q4LE80|Q6NZI3 hg19 CCDS13806.1 0.02 -0.184145 TGGxATT COVERED NOVEL BCR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075819.1 6 3.008978 KEEP 1 0 0 10 311 AA 0.99254 0.420319 0 + 3 60 105 0 0 8.492001 14 60 416 48 ENST00000305877.8 0.176471 0.423478 SMARCB1 6598 __UNKNOWN__ __UNKNOWN__ 22 24136840 24136840 __UNKNOWN__ Intron SNP G G C rs567338913 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:24136840G>C ENST00000407082.3 + 3 521 SMARCB1_ENST00000263121.7_Intron|SMARCB1_ENST00000407422.3_Intron|SMARCB1_ENST00000344921.6_Intron Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 NA NA ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351) nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741) p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713) p.?(2) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) aatcccagcagtttgggaggc 0.458 NA D, N, F, S malignant rhabdoid malignant rhabdoid NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes Rhabdoid predisposition syndrome 22 22q11 6598 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 M 2 Unknown(2) soft_tissue(2) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U04847 CCDS13817.1, CCDS46671.1 22q11.23 2014-09-17 ENSG00000099956 ENSG00000099956 6598 11103 protein-coding gene gene with protein product sucrose nonfermenting, yeast, homolog-like 1, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144 601607 SNF5L1 NA 7801128, 10319872, 10365963 Standard NM_003073 NM_003073 NA Approved BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144 uc002zyb.3 Q12824 OTTHUMG00000150737 ENST00000407082.3:c.362+965G>C chr22.hg19:g.24136840G>C NA O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2 hg19 0.02 -0.263185 GCAxTTT COVERED NOVEL SMARCB1-003 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000319874.1 9 2.708963 KEEP 0 0 0 9 329 GG 0.99254 0.688494 0 + 3 60 99 1 0 7.242368 24 60 838 57 ENST00000407082.3 0.111111 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 24262993 24262993 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:24262993C>T NA NA AP000350.5 (13738 upstream) : GSTT2B (36607 downstream) NA NA NA tttgggaggccgaggcgggtg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.24262993C>T NA hg19 0.02 1.412204 GGCxGAG COVERED NOVEL 0 51 3.850166 KEEP 46 0 0 13 410 CC 0.99257 0.98769 0 5 59 151 0 0 10.298778 48 60 1543 176 0.09434 0.995084 CABIN1 23523 __UNKNOWN__ __UNKNOWN__ 22 24513393 24513393 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:24513393T>C ENST00000405822.2 + 27 4157 CABIN1_ENST00000263119.5_Intron|CABIN1_ENST00000398319.2_Intron Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 NA NA cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086) aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) protein phosphatase inhibitor activity (GO:0004864) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 tctcaaactcttggcctcaag 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF072441 CCDS13823.1, CCDS74830.1 22q11.23 2008-09-16 ENSG00000099991 ENSG00000099991 23523 24187 protein-coding gene gene with protein product 604251 NA 9655484, 9205841 Standard NM_012295 NM_001199281 NA Approved KIAA0330, PPP3IN uc002zzi.1 Q9Y6J0 OTTHUMG00000150797 ENST00000405822.2:c.4064-1941T>C chr22.hg19:g.24513393T>C NA G5E9F3|Q6PHY0|Q9Y460 hg19 0.02 -0.183936 CTCxTGG COVERED NOVEL CABIN1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000320162.2 5 2.695915 KEEP 0 0 0 9 271 TT 0.99254 0.420319 0 + 3 60 96 0 0 7.512833 15 60 434 43 ENST00000405822.2 0.166667 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 24607757 24607757 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:24607757C>T NA NA SUSD2 (22679 upstream) : GGT5 (7864 downstream) NA NA NA tggagtctcccatgtctactt 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.24607757C>T NA hg19 0.02 1.40977 TCCxATG COVERED NOVEL 0 13 2.708732 KEEP 12 0 0 9 315 CC 0.99254 0.969578 0 5 60 143 0 0 9.504951 48 60 1585 104 0.09434 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 24607787 24607787 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:24607787G>A NA NA SUSD2 (22709 upstream) : GGT5 (7834 downstream) NA NA NA cagacacagtgacaatctgat 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.24607787G>A NA hg19 0.02 1.056654 AGTxACA COVERED NOVEL 0 22 5.116492 KEEP 13 0 0 17 605 GG 0.999366 0.998926 0 7 60 208 0 0 13.839542 73 60 2482 163 0.0875 0.999559 GGT5 2687 __UNKNOWN__ __UNKNOWN__ 22 24616666 24616666 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:24616666A>C ENST00000398292.3 - 12 1951 GGT5_ENST00000418439.2_Intron|GGT5_ENST00000263112.7_Intron|GGT5_ENST00000327365.4_Intron P36269 GGT5_HUMAN gamma-glutamyltransferase 5 NA NA arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281) anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 gagtttgagaacagccagggc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M64099 CCDS13825.1, CCDS42989.1, CCDS42990.1 22q11.23 2008-03-25 2008-03-10 2008-03-10 ENSG00000099998 ENSG00000099998 2687 Gamma-glutamyltransferases 4260 protein-coding gene gene with protein product 137168 gamma-glutamyltransferase-like activity 1 GGTLA1 NA 1676842, 8095916, 18357469 Standard NM_004121 NM_004121 NA Approved GGT-REL uc002zzp.4 P36269 OTTHUMG00000150796 ENST00000398292.3:c.1618-582T>G chr22.hg19:g.24616666A>C NA Q53XM9|Q6GMP0|Q96FC1|Q9UFM5 hg19 CCDS42990.1 0.02 1.456057 AGAxCAG COVERED NOVEL GGT5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320121.1 13 7.221462 KEEP 0 0 0 24 751 AA 0.999909 0.999829 0 - 4 60 131 0 0 7.850952 89 60 2605 184 ENST00000398292.3 0.043011 0.999919 SNRPD3 6634 __UNKNOWN__ __UNKNOWN__ 22 24968637 24968637 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:24968637A>G ENST00000215829.3 + 0 1660 SNRPD3_ENST00000402849.1_Intron NM_001278656.1|NM_004175.3 NP_001265585.1|NP_004166.1 P62318 SMD3_HUMAN small nuclear ribonucleoprotein D3 polypeptide 18kDa NA NA gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683) enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 gctgaggcagaagattcgctt 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U15009 CCDS13828.1 22q11.23 2011-10-11 2002-08-29 ENSG00000100028 ENSG00000100028 6634 11160 protein-coding gene gene with protein product 601062 small nuclear ribonucleoprotein D3 polypeptide (18kD) NA 1701240, 7527560 Standard NM_004175 NM_004175 NA Approved SMD3, Sm-D3 uc003aam.1 P62318 OTTHUMG00000150727 ENST00000215829.3:c.*692A>G chr22.hg19:g.24968637A>G NA B4DJP7|B5BU13|P43331 hg19 CCDS13828.1 0.02 1.453212 CAGxAGA COVERED NOVEL SNRPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319813.1 8 5.184681 KEEP 0 2 62 39 1261 AA 1 0.999559 0 + 4 60 127 0 0 7.764638 74 60 2170 134 ENST00000215829.3 0.051282 0.999559 SNRPD3 6634 __UNKNOWN__ __UNKNOWN__ 22 24968641 24968641 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:24968641T>A ENST00000215829.3 + 0 1664 SNRPD3_ENST00000402849.1_Intron NM_001278656.1|NM_004175.3 NP_001265585.1|NP_004166.1 P62318 SMD3_HUMAN small nuclear ribonucleoprotein D3 polypeptide 18kDa NA NA gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683) enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 aggcagaagattcgcttgaac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U15009 CCDS13828.1 22q11.23 2011-10-11 2002-08-29 ENSG00000100028 ENSG00000100028 6634 11160 protein-coding gene gene with protein product 601062 small nuclear ribonucleoprotein D3 polypeptide (18kD) NA 1701240, 7527560 Standard NM_004175 NM_004175 NA Approved SMD3, Sm-D3 uc003aam.1 P62318 OTTHUMG00000150727 ENST00000215829.3:c.*696T>A chr22.hg19:g.24968641T>A NA B4DJP7|B5BU13|P43331 hg19 CCDS13828.1 0.02 1.202353 AGAxTCG COVERED NOVEL SNRPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319813.1 10 8.858291 KEEP 0 1 33 41 1205 TT 1 0.999835 0 + 5 60 153 0 0 9.46442 79 60 2172 146 ENST00000215829.3 0.059524 0.999835 SEZ6L 23544 __UNKNOWN__ __UNKNOWN__ 22 26707916 26707916 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:26707916C>A ENST00000248933.6 + 8 1959 c.1864C>A c.(1864-1866)Ccc>Acc p.P622T SEZ6L_ENST00000403121.1_Missense_Mutation_p.P395T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P622T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P622T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P395T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P622T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P622T Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 622 Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}. NA adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TGACACAGAGCCCCTGTGCAG 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 90 87 88 NA NA NA 22 NA NA 26707916 2203 4300 6503 SO:0001583 missense AL050253 CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1 22q12.1 2008-05-14 2001-11-28 ENSG00000100095 ENSG00000100095 23544 10763 protein-coding gene gene with protein product 607021 seizure related gene 6 (mouse)-like NA Standard NM_021115 NA Approved uc003acb.3 Q9BYH1 OTTHUMG00000150870 ENST00000248933.6:c.1864C>A chr22.hg19:g.26707916C>A ENSP00000248933:p.Pro622Thr NA A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6 hg19 CCDS13833.1 0.02 1.337546 GAGxCCC COVERED . . . . . . . . . . C 23.6 4.432071 0.83776 . . ENSG00000100095 ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979 T;T;T;T;T;T;T 0.77489 -1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1 4.48 4.48 0.54585 Complement control module (2);Sushi/SCR/CCP (3); 0.000000 0.56097 D 0.000029 D 0.90304 0.6967 M 0.91510 3.215 0.80722 D 1 D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D 0.97110 1.0;1.0;1.0;0.999;0.999;1.0;1.0 D 0.92592 0.6084 10 0.87932 D 0 . 16.6996 0.85345 0.0:1.0:0.0:0.0 . 622;622;395;622;622;622;622 B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1 .;.;.;.;.;.;SE6L1_HUMAN T 622;622;622;622;622;395;395 ENSP00000384772:P622T;ENSP00000437037:P622T;ENSP00000354185:P622T;ENSP00000248933:P622T;ENSP00000342661:P622T;ENSP00000384838:P395T;ENSP00000384733:P395T ENSP00000248933:P622T P + 1 0 SEZ6L 25037916 1.000000 0.71417 1.000000 0.80357 0.938000 0.57974 7.087000 0.76893 2.474000 0.83562 0.563000 0.77884 CCC NOVEL SEZ6L-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320359.3 1 12.870867 KEEP 0 0 0 43 1402 CC 1 0.967425 0 + 20 60 527 0 0 47.18281 32 60 1070 115 ENST00000248933.6 0.384615 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 28208690 28208690 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:28208690A>G NA NA MN1 (11204 upstream) : PITPNB (38966 downstream) NA NA NA ccgagatcgcaccattgcact 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.28208690A>G NA hg19 0.02 3.865096 CGCxCCA COVERED NOVEL 0 13 9.026282 KEEP 3 0 0 30 925 AA 0.999997 0.999978 0 6 60 178 0 0 11.05063 86 60 2528 188 0.065217 0.999981 TTC28 23331 __UNKNOWN__ __UNKNOWN__ 22 28375222 28375222 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:28375222G>C ENST00000397906.2 - 0 10574 TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000419253.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000454996.1_RNA|TTC28-AS1_ENST00000430525.1_RNA|TTC28-AS1_ENST00000425112.1_RNA NM_001145418.1 NP_001138890.1 Q96AY4 TTC28_HUMAN tetratricopeptide repeat domain 28 NA NA mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346) centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496) endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3) 12 aatcccagcagtttgggaggc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB028966 CCDS46678.1 22q12.1 2013-01-10 ENSG00000100154 ENSG00000100154 23331 Tetratricopeptide (TTC) repeat domain containing 29179 protein-coding gene gene with protein product 615098 NA 10470851 Standard XM_929318 NM_001145418 NA Approved KIAA1043 uc003adp.4 Q96AY4 OTTHUMG00000151006 ENST00000397906.2:c.*2987C>G chr22.hg19:g.28375222G>C NA K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5 hg19 CCDS46678.1 0.02 -0.280728 GCAxTTT COVERED NOVEL TTC28-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000320930.2 3 6.019769 KEEP 1 0 0 20 717 GG 0.999863 0.760782 0 - 4 60 135 0 0 10.561612 22 60 754 66 ENST00000397906.2 0.153846 0.760887 TTC28 23331 __UNKNOWN__ __UNKNOWN__ 22 28385703 28385703 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:28385703A>G ENST00000397906.2 - 21 5849 TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000430525.1_RNA NM_001145418.1 NP_001138890.1 Q96AY4 TTC28_HUMAN tetratricopeptide repeat domain 28 NA NA mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346) centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496) endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3) 12 ccaaagtgctaggattacatg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028966 CCDS46678.1 22q12.1 2013-01-10 ENSG00000100154 ENSG00000100154 23331 Tetratricopeptide (TTC) repeat domain containing 29179 protein-coding gene gene with protein product 615098 NA 10470851 Standard XM_929318 NM_001145418 NA Approved KIAA1043 uc003adp.4 Q96AY4 OTTHUMG00000151006 ENST00000397906.2:c.5707+162T>C chr22.hg19:g.28385703A>G NA K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5 hg19 CCDS46678.1 0.02 1.90978 GCTxGGA COVERED NOVEL TTC28-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000320930.2 17 2.541391 KEEP 0 1 33 20 606 AA 0.999879 0.994302 0 - 5 60 165 0 0 11.493553 53 60 1496 105 ENST00000397906.2 0.086207 0.994422 TTC28 23331 __UNKNOWN__ __UNKNOWN__ 22 28880364 28880364 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:28880364C>T ENST00000397906.2 - 2 523 NM_001145418.1 NP_001138890.1 Q96AY4 TTC28_HUMAN tetratricopeptide repeat domain 28 NA NA mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346) centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496) endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3) 12 cctcccaaagcactgggatta 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028966 CCDS46678.1 22q12.1 2013-01-10 ENSG00000100154 ENSG00000100154 23331 Tetratricopeptide (TTC) repeat domain containing 29179 protein-coding gene gene with protein product 615098 NA 10470851 Standard XM_929318 NM_001145418 NA Approved KIAA1043 uc003adp.4 Q96AY4 OTTHUMG00000151006 ENST00000397906.2:c.381+145175G>A chr22.hg19:g.28880364C>T NA K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5 hg19 CCDS46678.1 0.02 -0.236802 AAGxACT COVERED NOVEL TTC28-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000320930.2 8 2.709026 KEEP 1 0 0 9 339 CC 0.99257 0.636582 0 - 3 60 89 0 0 6.465678 20 60 685 54 ENST00000397906.2 0.130435 0.641347 TTC28 23331 __UNKNOWN__ __UNKNOWN__ 22 28880365 28880365 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:28880365A>G ENST00000397906.2 - 2 523 NM_001145418.1 NP_001138890.1 Q96AY4 TTC28_HUMAN tetratricopeptide repeat domain 28 NA NA mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346) centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496) endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3) 12 ctcccaaagcactgggattac 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028966 CCDS46678.1 22q12.1 2013-01-10 ENSG00000100154 ENSG00000100154 23331 Tetratricopeptide (TTC) repeat domain containing 29179 protein-coding gene gene with protein product 615098 NA 10470851 Standard XM_929318 NM_001145418 NA Approved KIAA1043 uc003adp.4 Q96AY4 OTTHUMG00000151006 ENST00000397906.2:c.381+145174T>C chr22.hg19:g.28880365A>G NA K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5 hg19 CCDS46678.1 0.02 -0.236783 AGCxCTG COVERED NOVEL TTC28-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000320930.2 8 2.708376 KEEP 1 0 0 9 288 AA 0.99257 0.636582 0 - 3 60 105 0 0 8.064763 20 60 580 54 ENST00000397906.2 0.130435 0.641347 HSCB 150274 __UNKNOWN__ __UNKNOWN__ 22 29153213 29153213 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:29153213A>G ENST00000216027.3 + 0 829 HSCB_ENST00000398941.2_3'UTR|HSCB_ENST00000495977.1_3'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone NA NA iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259) centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) kidney(1)|lung(2)|skin(1) 4 agtggctcacacctgtaatcc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 11 9 10 NA NA NA 22 NA NA 29153213 691 1581 2272 SO:0001624 3_prime_UTR_variant AY191719 CCDS13845.1 22q12.1 2013-09-12 2013-09-12 ENSG00000100209 ENSG00000100209 150274 Heat shock proteins / DNAJ (HSP40) 28913 protein-coding gene gene with protein product DnaJ (Hsp40) homolog, subfamily C, member 20 608142 HscB iron-sulfur cluster co-chaperone homolog (E. coli) NA 12938016, 16952052 Standard NM_172002 NM_172002 NA Approved HSC20, DNAJC20, Jac1 uc003aea.3 Q8IWL3 OTTHUMG00000151092 ENST00000216027.3:c.*56A>G chr22.hg19:g.29153213A>G NA Q9BWS7 hg19 CCDS13845.1 0.02 3.55925 CACxCCT COVERED NOVEL HSCB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321263.1 38 2.840948 KEEP 1 7 239 93 2814 AA 1 1 0 + 6 60 176 0 1 10.396508 119 60 3443 339 ENST00000216027.3 0.048 1 CCDC117 150275 __UNKNOWN__ __UNKNOWN__ 22 29172225 29172225 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:29172225T>C ENST00000249064.4 + 2 415 CCDC117_ENST00000421503.2_Intron|CCDC117_ENST00000443309.2_Intron|CCDC117_ENST00000448492.2_Intron NM_001284263.1|NM_001284265.1|NM_173510.2 NP_001271192.1|NP_001271194.1|NP_775781.1 Q8IWD4 CC117_HUMAN coiled-coil domain containing 117 NA NA breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1) 7 ggtgaaaccctgtctctacta 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091133 CCDS13846.1, CCDS63435.1, CCDS63436.1 22q12.1 2006-06-27 ENSG00000159873 ENSG00000159873 150275 26599 protein-coding gene gene with protein product NA 12477932 Standard NM_173510 NM_001284263 NA Approved FLJ33814 uc003aeb.3 Q8IWD4 OTTHUMG00000151091 ENST00000249064.4:c.239+2459T>C chr22.hg19:g.29172225T>C NA A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278 hg19 CCDS13846.1 0.02 -0.298133 CCCxGTC COVERED NOVEL CCDC117-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321258.1 5 3.610216 KEEP 1 0 0 12 366 TT 0.993634 0.776087 0 + 3 60 98 0 0 6.998252 27 60 764 57 ENST00000249064.4 0.1 0.78106 AP1B1 162 __UNKNOWN__ __UNKNOWN__ 22 29747880 29747880 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:29747880C>G ENST00000402502.1 - 7 970 AP1B1_ENST00000432560.2_Intron|AP1B1_ENST00000356015.2_Intron|AP1B1_ENST00000317368.7_Intron|AP1B1_ENST00000405198.1_Intron|AP1B1_ENST00000357586.2_Intron|AP1B1_ENST00000415447.1_Intron Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032) clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588) protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215) endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AAAATGCCCTCCACATTTGCT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L13939 CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1 22q12.2 2010-06-18 ENSG00000100280 ENSG00000100280 162 554 protein-coding gene gene with protein product 600157 ADTB1, CLAPB2 NA 7987321, 8812422 Standard NM_001127 NM_145730 NA Approved BAM22, AP105A uc003afj.3 Q10567 OTTHUMG00000151109 ENST00000402502.1:c.939-66G>C chr22.hg19:g.29747880C>G NA C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54 hg19 CCDS13856.2 0.02 -0.333275 CCTxCAC COVERED NOVEL AP1B1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321377.1 0 7.524091 KEEP 0 0 0 25 855 CC 0.999931 0.851925 0 - 18 60 581 0 0 55.263734 20 60 669 80 ENST00000402502.1 0.473684 0.851984 NEFH 4744 __UNKNOWN__ __UNKNOWN__ 22 29885733 29885733 __UNKNOWN__ Missense_Mutation SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:29885733G>T ENST00000310624.6 + 4 2137 c.2104G>T c.(2104-2106)Gca>Tca p.A702S NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 708 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. NA axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513) axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883) dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198) cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 GAAGGAAGAAGCAAAGTCCCC 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 67 71 70 NA NA NA 22 NA NA 29885733 2168 4248 6416 SO:0001583 missense CCDS13858.1 22q12.2 2013-01-16 2008-09-19 ENSG00000100285 ENSG00000100285 4744 Intermediate filaments type IV 7737 protein-coding gene gene with protein product 162230 neurofilament, heavy polypeptide 200kDa NA Standard NM_021076 NM_021076 NA Approved uc003afo.3 P12036 OTTHUMG00000151155 ENST00000310624.6:c.2104G>T chr22.hg19:g.29885733G>T ENSP00000311997:p.Ala702Ser NA B4DYY4|Q96HF8|Q9UJS7|Q9UQ14 hg19 CCDS13858.1 0.02 1.532254 GAAxCAA COVERED . . . . . . . . . . G 4.673 0.125066 0.08931 . . ENSG00000100285 ENST00000328842;ENST00000310624 D 0.82711 -1.64 4.18 3.17 0.36434 . 0.667620 0.13834 N 0.359502 D 0.86418 0.5928 L 0.46614 1.455 0.09310 N 1 D 0.63046 0.992 D 0.72982 0.979 T 0.75062 -0.3450 10 0.66056 D 0.02 . 8.7362 0.34530 0.0876:0.1524:0.76:0.0 . 708 P12036 NFH_HUMAN S 702 ENSP00000311997:A702S ENSP00000311997:A702S A + 1 0 NEFH 28215733 0.002000 0.14202 0.077000 0.20336 0.011000 0.07611 1.223000 0.32527 1.090000 0.41315 0.491000 0.48974 GCA NOVEL NEFH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321553.2 2 6.620667 KEEP 4 0 0 22 769 GG 0.999879 0.998574 0 + 26 54 766 0 0 68.181416 48 55 1620 143 ENST00000310624.6 0.351351 0.998696 THOC5 8563 __UNKNOWN__ __UNKNOWN__ 22 29903552 29903552 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:29903552C>T ENST00000490103.1 - 0 3068 NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 NA NA blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784) cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346) mRNA binding (GO:0003729) NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ttcaccatgtcggccaggctg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023200 CCDS13859.1 22q12 2013-02-11 ENSG00000100296 ENSG00000100296 8563 THO complex subunits 19074 protein-coding gene gene with protein product functional spliceosome-associated protein 79 612733 chromosome 22 open reading frame 19 C22orf19 NA 11979277, 8242058, 10231032, 19015024, 18373705 Standard NM_003678 NM_003678 NA Approved PK1.3, KIAA0983, Fmip, fSAP79 uc003afs.3 Q13769 OTTHUMG00000151291 ENST00000490103.1:c.*894G>A chr22.hg19:g.29903552C>T NA O60839|Q9UPZ5 hg19 CCDS13859.1 0.02 0.887037 TGTxGGC COVERED NOVEL THOC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322097.1 5 3.977589 KEEP 2 2 47 30 1004 CC 0.999997 0.999315 0 - 7 60 167 0 0 10.059094 66 60 2044 125 ENST00000490103.1 0.09589 0.999317 NF2 4771 __UNKNOWN__ __UNKNOWN__ 22 30006091 30006091 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:30006091T>C ENST00000338641.4 + 1 555 NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Intron|NF2_ENST00000403999.3_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000334961.7_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000397789.3_Intron|NF2_ENST00000361166.4_Intron NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) NA NA actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010) adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726) p.?(2) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 ctttgggaggtcaaggcagga 0.433 NA D, Mis, N, F, S, O meningioma, acoustic neuroma, renal meningioma, acoustic neuroma Neurofibromatosis, type 2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes Neurofibromatosis type 2 22 22q12.2 4771 neurofibromatosis type 2 gene O 2 Unknown(2) stomach(1)|lung(1) NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis L11353 CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1 22q12.2 2014-09-17 2007-12-17 ENSG00000186575 ENSG00000186575 4771 A-kinase anchor proteins 7773 protein-coding gene gene with protein product moesin-ezrin-radixin like, schwannomin 607379 neurofibromin 2 (bilateral acoustic neuroma) NA 10591208 Standard NM_000268 NM_000268 NA Approved merlin uc003age.4 P35240 OTTHUMG00000030727 ENST00000338641.4:c.114+5990T>C chr22.hg19:g.30006091T>C NA O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4 hg19 CCDS13861.1 0.02 -0.262972 AGGxCAA COVERED NOVEL NF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075615.3 6 3.009287 KEEP 0 0 0 10 321 TT 0.992708 0.712085 0 + 3 60 100 0 0 7.293273 25 60 721 63 ENST00000338641.4 0.107143 0.717315 SEC14L3 266629 __UNKNOWN__ __UNKNOWN__ 22 30844652 30844652 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:30844652A>G ENST00000403066.1 - 0 1767 SEC14L3_ENST00000415957.2_3'UTR Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622) lipid binding (GO:0008289)|transporter activity (GO:0005215) NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) gaggtcaggaatttgagacca 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(108;290 1516 3584 23771 37333) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY158086 CCDS13877.1, CCDS58800.1, CCDS58801.1 22q12.2 2013-09-23 ENSG00000100012 ENSG00000100012 266629 18655 protein-coding gene gene with protein product 612824 NA Standard NM_174975 NM_174975 NA Approved TAP2 uc003ahy.3 Q9UDX4 OTTHUMG00000151259 ENST00000403066.1:c.*422T>C chr22.hg19:g.30844652A>G NA E7EN74|E9PE57|Q495V8|Q495W0|Q495W1 hg19 0.02 3.853843 GGAxTTT COVERED NOVEL SEC14L3-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000321951.1 22 7.455778 KEEP 0 1 26 34 1103 AA 0.999999 0.999998 0 - 5 60 167 0 0 10.161208 110 60 3312 222 ENST00000403066.1 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 31406308 31406308 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:31406308G>A NA NA TUG1 (30927 upstream) : RN7SL633P (49666 downstream) NA NA NA gattacaggcgtgagccactg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.31406308G>A NA hg19 0.02 -0.377105 GGCxTGA COVERED NOVEL 0 5 3.008594 KEEP 0 0 0 10 325 GG 0.992708 0.90244 0 4 60 123 0 0 8.565093 36 60 1103 69 0.1 0.909069 RNF185 91445 __UNKNOWN__ __UNKNOWN__ 22 31602710 31602710 __UNKNOWN__ 3'UTR SNP G G T rs62237433 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:31602710G>T ENST00000326132.6 + 0 2876 RNF185_ENST00000266252.7_3'UTR NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 NA NA autophagy (GO:0006914)|protein ubiquitination (GO:0016567) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|large_intestine(1)|lung(3)|skin(1) 6 GCTAAGTAAGGCAGGAGAGCT 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13890.1, CCDS46689.1 22q12.2 2013-01-09 ENSG00000138942 ENSG00000138942 91445 RING-type (C3HC4) zinc fingers 26783 protein-coding gene gene with protein product hypothetical protein FLJ38628 NA 12477932 Standard NM_152267 NM_152267 NA Approved FLJ38628 uc003akb.3 Q96GF1 OTTHUMG00000151253 ENST00000326132.6:c.*2138G>T chr22.hg19:g.31602710G>T NA A8K5C1|A9X3T8|Q8N900 hg19 CCDS13890.1 0.02 4.826162 AAGxCAG COVERED NOVEL RNF185-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321927.2 4 16.554635 KEEP 3 10 292 158 5565 GG 1 1 0 + 15 59 431 0 0 28.057563 160 60 5437 468 ENST00000326132.6 0.085714 1 RP3-400N23.6 0 __UNKNOWN__ __UNKNOWN__ 22 31694283 31694283 __UNKNOWN__ RNA SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:31694283G>C ENST00000440456.1 + 0 200 NA NA NA tggcagcacagacctgtagtc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000440456.1: chr22.hg19:g.31694283G>C NA hg19 0.02 -0.307026 ACAxACC COVERED NOVEL RP3-400N23.6-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000321908.1 12 4.213714 KEEP 0 0 0 14 505 GG 0.995343 0.796519 0 + 3 60 100 0 0 7.02665 31 60 1040 63 ENST00000440456.1 0.088235 0.800245 DEPDC5 9681 __UNKNOWN__ __UNKNOWN__ 22 32177779 32177779 __UNKNOWN__ Intron SNP A A G rs147156286 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:32177779A>G ENST00000382112.3 + 8 553 DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000400242.3_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400248.2_Intron NM_001136029.2|NM_001242896.1 NP_001129501.1|NP_001229825.1 O75140 DEPD5_HUMAN DEP domain containing 5 NA NA intracellular signal transduction (GO:0035556) cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471) GTPase activator activity (GO:0005096) breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 caggactttgagaggccgagg 0.507 NA a||| 112 0.0223642 0.0499 0.0115 5008 , , NA 14193 0.001 NA 0.0209 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014545 CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1 22q12.3 2013-04-29 ENSG00000100150 ENSG00000100150 9681 18423 protein-coding gene gene with protein product 614191 NA 23542697, 23542701 Standard NM_014662 NM_001242896 NA Approved KIAA0645, DEP.5 uc011alu.2 O75140 OTTHUMG00000030926 ENST00000382112.3:c.484-2114A>G chr22.hg19:g.32177779A>G NA A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13 hg19 CCDS46692.1 0.02 -0.157878 TTGxGAG COVERED NOVEL DEPDC5-006 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000129087.1 4 2.708479 KEEP 0 0 0 9 294 AA 0.99254 0.320398 0 + 3 60 97 0 0 7.691803 14 60 420 39 ENST00000382112.3 0.176471 0.322807 SLC5A4 6527 __UNKNOWN__ __UNKNOWN__ 22 32649973 32649973 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:32649973A>G ENST00000266086.4 - 2 219 RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 NA NA carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) symporter activity (GO:0015293) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 tcaccatgttagtcaggctgg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U41897 CCDS13903.1 22q12.3 2013-07-19 2013-07-19 ENSG00000100191 ENSG00000100191 6527 Solute carriers 11039 protein-coding gene gene with protein product solute carrier family 5 (low affinity glucose cotransporter), member 4 NA 9501190, 12354616 Standard NM_014227 NM_014227 NA Approved SAAT1, SGLT3, DJ90G24.4 uc003ami.3 Q9NY91 OTTHUMG00000150007 ENST00000266086.4:c.207+155T>C chr22.hg19:g.32649973A>G NA O15279 hg19 CCDS13903.1 0.02 -0.245532 GTTxGTC COVERED NOVEL SLC5A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315724.1 2 3.308922 KEEP 0 0 0 11 318 AA 0.993072 0.636904 0 - 3 60 91 0 0 6.496448 23 60 647 41 ENST00000266086.4 0.115385 0.641347 RTCB 51493 __UNKNOWN__ __UNKNOWN__ 22 32791953 32791953 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:32791953T>C ENST00000216038.5 - 8 1089 RTCB_ENST00000451746.2_Intron NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase NA NA NA tcccaaagtgttgggattaca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016707 CCDS13905.1 22q12.3 2013-05-22 2013-05-22 2013-05-22 ENSG00000100220 ENSG00000100220 51493 6.5.1.3 26935 protein-coding gene gene with protein product focal adhesion-associated protein 613901 chromosome 22 open reading frame 28 C22orf28 NA 11042152, 21209330, 21311021 Standard NM_014306 NM_014306 NA Approved HSPC117, FAAP Q9Y3I0 OTTHUMG00000030300 ENST00000216038.5:c.990+107A>G chr22.hg19:g.32791953T>C NA hg19 CCDS13905.1 0.02 -0.359399 GTGxTGG COVERED NOVEL RTCB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075188.3 1 4.511821 KEEP 0 0 0 15 433 TT 0.99649 0.885755 0 - 5 60 163 0 0 12.264082 33 70 889 63 ENST00000216038.5 0.131579 0.888875 RTCB 51493 __UNKNOWN__ __UNKNOWN__ 22 32802586 32802586 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:32802586A>G ENST00000216038.5 - 4 439 RTCB_ENST00000476619.1_Intron|RTCB_ENST00000451746.2_Intron NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase NA NA NA gggattacagacgtgagccac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016707 CCDS13905.1 22q12.3 2013-05-22 2013-05-22 2013-05-22 ENSG00000100220 ENSG00000100220 51493 6.5.1.3 26935 protein-coding gene gene with protein product focal adhesion-associated protein 613901 chromosome 22 open reading frame 28 C22orf28 NA 11042152, 21209330, 21311021 Standard NM_014306 NM_014306 NA Approved HSPC117, FAAP Q9Y3I0 OTTHUMG00000030300 ENST00000216038.5:c.340+62T>C chr22.hg19:g.32802586A>G NA hg19 CCDS13905.1 0.02 1.841717 CAGxCGT COVERED NOVEL RTCB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075188.3 7 7.557988 KEEP 0 1 34 37 1195 AA 1 0.963774 0 - 4 60 131 0 0 9.190132 40 60 1198 101 ENST00000216038.5 0.090909 0.963774 BPIFC 254240 __UNKNOWN__ __UNKNOWN__ 22 32833629 32833629 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:32833629G>C ENST00000397452.1 - 8 858 BPIFC_ENST00000300399.3_Intron|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000534972.1_Intron Q8NFQ6 BPIFC_HUMAN BPI fold containing family C NA NA extracellular region (GO:0005576) lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543) NA ccacctgcctgggcctcccaa 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF465766 CCDS13906.1 22q12.3 2011-08-04 2011-08-01 2011-08-01 ENSG00000184459 ENSG00000184459 254240 BPI fold containing 16503 protein-coding gene gene with protein product 614109 bactericidal/permeability-increasing protein-like 2 BPIL2 NA Standard NM_174932 NM_174932 NA Approved dJ149A16.7 uc003amn.2 Q8NFQ6 OTTHUMG00000058273 ENST00000397452.1:c.747+117C>G chr22.hg19:g.32833629G>C NA A2RRF1 hg19 CCDS13906.1 0.02 -0.342129 CCTxGGC COVERED NOVEL BPIFC-010 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000129029.2 6 4.51378 KEEP 0 0 0 15 516 GG 0.99649 0.885755 0 - 3 60 103 0 0 7.286567 32 60 1101 76 ENST00000397452.1 0.085714 0.888875 SYN3 8224 __UNKNOWN__ __UNKNOWN__ 22 33269216 33269216 __UNKNOWN__ Intron SNP A A G rs537315510 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:33269216A>G ENST00000358763.2 - 5 704 SYN3_ENST00000332840.5_Intron NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III NA NA neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228) cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672) ATP binding (GO:0005524)|catalytic activity (GO:0003824) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gggattacagacgtgagccac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF046873 CCDS13908.1 22q12.3 2008-05-14 ENSG00000185666 ENSG00000185666 8224 11496 protein-coding gene gene with protein product 602705 NA 9539796 Standard NM_003490 NA Approved uc003amx.3 O14994 OTTHUMG00000031004 ENST00000358763.2:c.462-4104T>C chr22.hg19:g.33269216A>G NA B1B1F9 hg19 CCDS13908.1 0.02 1.652021 CAGxCGT COVERED NOVEL SYN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075892.4 14 4.136203 KEEP 0 1 38 27 847 AA 0.999997 0.999619 0 - 5 60 163 1 0 11.071141 59 60 1761 158 ENST00000358763.2 0.078125 0.999622 SYN3 8224 __UNKNOWN__ __UNKNOWN__ 22 33361761 33361761 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:33361761G>C ENST00000358763.2 - 3 612 SYN3_ENST00000332840.5_Intron NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III NA NA neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228) cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672) ATP binding (GO:0005524)|catalytic activity (GO:0003824) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctcactgcaagctccgcctcc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF046873 CCDS13908.1 22q12.3 2008-05-14 ENSG00000185666 ENSG00000185666 8224 11496 protein-coding gene gene with protein product 602705 NA 9539796 Standard NM_003490 NA Approved uc003amx.3 O14994 OTTHUMG00000031004 ENST00000358763.2:c.369+14868C>G chr22.hg19:g.33361761G>C NA B1B1F9 hg19 CCDS13908.1 0.02 -0.280686 CAAxCTC COVERED NOVEL SYN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075892.4 4 3.008634 KEEP 0 0 0 10 322 GG 0.992708 0.734278 0 - 3 60 97 0 0 6.944703 26 60 860 55 ENST00000358763.2 0.103448 0.739671 LARGE 9215 __UNKNOWN__ __UNKNOWN__ 22 33752495 33752495 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:33752495T>C ENST00000354992.2 - 11 1703 LARGE_ENST00000337431.2_Intron|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000397394.2_Intron|LARGE_ENST00000452586.2_Intron|LARGE_ENST00000437602.2_Intron NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase NA NA glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486) integral component of Golgi membrane (GO:0030173) acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) tggtggctcatgcctgtaatc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(70;397 1175 4573 19089 45288) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ007583 CCDS13912.1 22q12.3 2013-02-22 ENSG00000133424 ENSG00000133424 9215 Glycosyltransferase family 8 domain containing 6511 protein-coding gene gene with protein product 603590 NA 9892679, 10591208, 12966029 Standard NM_133642 NM_004737 NA Approved KIAA0609 uc003ane.4 O95461 OTTHUMG00000150914 ENST00000354992.2:c.1132-18708A>G chr22.hg19:g.33752495T>C NA B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22 hg19 CCDS13912.1 0.02 -0.210201 TCAxGCC COVERED NOVEL LARGE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320515.2 9 3.009242 KEEP 1 0 0 10 318 TT 0.992708 0.518353 0 - 3 60 100 0 0 7.910589 15 60 414 43 ENST00000354992.2 0.166667 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 35275543 35275543 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:35275543A>C NA NA RP1-288L1.4 (154633 upstream) : RP1-272J12.1 (43055 downstream) NA NA NA ccttggcctcacaaagtgctg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.35275543A>C NA hg19 0.02 -0.19296 CTCxCAA COVERED NOVEL 0 3 2.407293 KEEP 0 0 0 8 250 AA 0.99257 0.454356 0 3 60 99 0 0 7.592203 18 60 539 44 0.142857 0.457757 ISX 91464 __UNKNOWN__ __UNKNOWN__ 22 35478679 35478679 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:35478679C>A ENST00000308700.6 + 2 1333 ISX_ENST00000404699.2_Intron NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox NA NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 CCATCCCTACCTCAGCCCCCA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 59 55 56 NA NA NA 22 NA NA 35478679 2203 4300 6503 SO:0001627 intron_variant AK025181 CCDS33640.1 22q12.3 2011-06-20 ENSG00000175329 ENSG00000175329 91464 Homeoboxes / PRD class 28084 protein-coding gene gene with protein product 612019 NA Standard NM_001008494 NM_001008494 NA Approved RAXLX uc003anj.3 Q2M1V0 OTTHUMG00000150962 ENST00000308700.6:c.381+17C>A chr22.hg19:g.35478679C>A NA Q68DJ5 hg19 CCDS33640.1 0.02 1.201674 TACxTCA COVERED NOVEL ISX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320662.1 2 27.386443 KEEP 0 0 0 91 3302 CC 1 0.999835 0 + 35 60 1007 0 0 91.270081 55 60 1929 244 ENST00000308700.6 0.388889 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 35485883 35485883 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:35485883T>C NA NA ISX (2503 upstream) : CTA-714B7.5 (29933 downstream) NA NA NA ggcgtggtggtgggtgcctgt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.35485883T>C NA hg19 0.02 -0.271634 TGGxGGG COVERED NOVEL 0 6 3.139675 KEEP 1 1 33 22 599 TT 0.999879 0.717228 0 3 60 95 1 0 6.746426 26 60 661 55 0.103448 0.717315 TOM1 10043 __UNKNOWN__ __UNKNOWN__ 22 35727626 35727626 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:35727626T>C ENST00000449058.2 + 8 1024 TOM1_ENST00000447733.1_Intron|TOM1_ENST00000436462.2_Intron|TOM1_ENST00000425375.1_Intron|TOM1_ENST00000382034.5_Intron|TOM1_ENST00000411850.1_Intron NM_005488.2 NP_005479.1 O60784 TOM1_HUMAN target of myb1 (chicken) NA NA endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031) cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) clathrin binding (GO:0030276) NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 cctgtaatcctagcactttgg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ006973 CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1 22q13.1 2011-01-31 2001-11-28 ENSG00000100284 ENSG00000100284 10043 11982 protein-coding gene gene with protein product 604700 target of myb1 (chicken) homolog NA 10329004, 15047686 Standard NM_005488 NM_005488 NA Approved uc003anp.3 O60784 OTTHUMG00000150958 ENST00000449058.2:c.899+1153T>C chr22.hg19:g.35727626T>C NA B4DEL9|B4DNA1|Q5TIJ6|Q86X74 hg19 CCDS13913.1 0.02 -0.131558 TCCxAGC COVERED NOVEL TOM1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000320641.1 3 2.407403 KEEP 0 0 0 8 252 TT 0.99257 0.22747 0 + 5 60 165 0 0 14.923022 9 60 262 31 ENST00000449058.2 0.357143 0.229173 MCM5 4174 __UNKNOWN__ __UNKNOWN__ 22 35809329 35809329 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:35809329A>G ENST00000216122.4 + 9 1245 MCM5_ENST00000465557.1_Intron|MCM5_ENST00000382011.5_Intron NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 NA NA DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278) MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 gagccaccgcacccggccgca 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13915.1 22q13.1-q13.2 2007-04-04 2007-04-04 ENSG00000100297 ENSG00000100297 4174 6948 protein-coding gene gene with protein product 602696 minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46), MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) CDC46 NA 8751386, 10591208 Standard NM_006739 NA Approved uc003anu.4 P33992 OTTHUMG00000150961 ENST00000216122.4:c.1092-539A>G chr22.hg19:g.35809329A>G NA O60785|Q14578|Q9BTJ4|Q9BWL8 hg19 CCDS13915.1 0.02 -0.175409 CGCxCCC COVERED NOVEL MCM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320661.3 4 2.708034 KEEP 11 0 0 9 277 AA 0.99254 0.384517 0 + 3 60 105 0 0 8.260698 17 60 497 56 ENST00000216122.4 0.15 0.387407 MCM5 4174 __UNKNOWN__ __UNKNOWN__ 22 35811159 35811159 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:35811159T>C ENST00000216122.4 + 10 1357 MCM5_ENST00000465557.1_Intron|MCM5_ENST00000382011.5_Intron NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 NA NA DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278) MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 tgagaccagcttgggcaacat 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13915.1 22q13.1-q13.2 2007-04-04 2007-04-04 ENSG00000100297 ENSG00000100297 4174 6948 protein-coding gene gene with protein product 602696 minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46), MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) CDC46 NA 8751386, 10591208 Standard NM_006739 NA Approved uc003anu.4 P33992 OTTHUMG00000150961 ENST00000216122.4:c.1204-663T>C chr22.hg19:g.35811159T>C NA O60785|Q14578|Q9BTJ4|Q9BWL8 hg19 CCDS13915.1 0.02 -0.341693 AGCxTGG COVERED NOVEL MCM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320661.3 13 2.708523 KEEP 1 0 0 9 295 TT 0.99254 0.859287 0 + 3 60 108 0 0 8.045713 26 60 772 73 ENST00000216122.4 0.103448 0.865745 MYH9 4627 __UNKNOWN__ __UNKNOWN__ 22 36750237 36750237 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:36750237A>G ENST00000216181.5 - 2 212 MYH9_ENST00000401701.1_Intron NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle NA NA actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796) actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931) actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803) NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 gtgagccaccacacccagccT 0.502 NA T ALK ALCL Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome Hereditary Macrothrombocytopenia, MYH9-associated NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 22 22q13.1 4627 myosin, heavy polypeptide 9, non-muscle yes L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA CCDS13927.1 22q13.1 2014-09-17 2006-09-29 ENSG00000100345 ENSG00000100345 4627 Myosins / Myosin superfamily : Class II 7579 protein-coding gene gene with protein product nonmuscle myosin heavy chain II-A 160775 myosin, heavy polypeptide 9, non-muscle DFNA17 NA 1860190, 11023810 Standard NM_002473 NM_002473 NA Approved NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS uc003apg.3 P35579 OTTHUMG00000030429 ENST00000216181.5:c.19-4937T>C chr22.hg19:g.36750237A>G NA A8K6E4|O60805|Q60FE2|Q86T83 hg19 CCDS13927.1 0.02 -0.315708 ACCxCAC COVERED NOVEL MYH9-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000259110.3 12 3.303702 KEEP 1 0 0 11 318 AA 0.993072 0.812795 0 - 3 60 93 0 0 6.368966 30 60 868 67 ENST00000216181.5 0.090909 0.818465 EIF3D 8664 __UNKNOWN__ __UNKNOWN__ 22 36917706 36917706 __UNKNOWN__ Intron SNP C C G rs11703713 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:36917706C>G ENST00000216190.8 - 7 836 EIF3D_ENST00000541106.1_Intron|EIF3D_ENST00000405442.1_Intron NM_003753.3 NP_003744.1 eukaryotic translation initiation factor 3, subunit D NA NA cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 gggtgtggtgcctcacgcctg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U54558 CCDS13930.1 22q13.1 2007-07-27 2007-07-27 2007-07-27 ENSG00000100353 ENSG00000100353 8664 3278 protein-coding gene gene with protein product 603915 eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa EIF3S7 NA 9341143 Standard NM_003753 NA Approved eIF3-p66, eIF3-zeta, eIF3d uc003apr.3 O15371 OTTHUMG00000150599 ENST00000216190.8:c.466-971G>C chr22.hg19:g.36917706C>G NA hg19 CCDS13930.1 0.02 -0.235868 GTGxCTC COVERED NOVEL EIF3D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319026.1 6 2.963854 KEEP 1 0 0 10 324 CC 0.992708 0.607941 0 - 3 60 106 0 0 8.171529 20 60 650 50 ENST00000216190.8 0.130435 0.612407 EIF3D 8664 __UNKNOWN__ __UNKNOWN__ 22 36923653 36923653 __UNKNOWN__ Intron SNP C C T rs568753839 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:36923653C>T ENST00000216190.8 - 1 361 EIF3D_ENST00000541106.1_Intron|EIF3D_ENST00000405442.1_Intron NM_003753.3 NP_003744.1 eukaryotic translation initiation factor 3, subunit D NA NA cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 tttgagaggccgaggtgggcg 0.527 NA C||| 1 0.000199681 0 0 5008 , , NA 16592 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U54558 CCDS13930.1 22q13.1 2007-07-27 2007-07-27 2007-07-27 ENSG00000100353 ENSG00000100353 8664 3278 protein-coding gene gene with protein product 603915 eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa EIF3S7 NA 9341143 Standard NM_003753 NA Approved eIF3-p66, eIF3-zeta, eIF3d uc003apr.3 O15371 OTTHUMG00000150599 ENST00000216190.8:c.9+1469G>A chr22.hg19:g.36923653C>T NA hg19 CCDS13930.1 0.02 -0.236829 GGCxGAG COVERED NOVEL EIF3D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319026.1 7 2.708441 KEEP 1 0 0 9 310 CC 0.99254 0.607839 0 - 4 60 109 0 0 8.115422 20 60 668 58 ENST00000216190.8 0.166667 0.612407 CYTH4 27128 __UNKNOWN__ __UNKNOWN__ 22 37698009 37698009 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:37698009A>G ENST00000248901.6 + 7 734 CYTH4_ENST00000439667.1_3'UTR NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 NA NA positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155) plasma membrane (GO:0005886) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 cacagtgctgagattacaggc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF075458 CCDS13946.1 22q12.3-q13.1 2014-05-02 2008-08-14 2008-08-14 ENSG00000100055 ENSG00000100055 27128 Pleckstrin homology (PH) domain containing 9505 protein-coding gene gene with protein product 606514 pleckstrin homology, Sec7 and coiled/coil domains 4, pleckstrin homology, Sec7 and coiled-coil domains 4 PSCD4 NA 10591208 Standard NM_013385 NA Approved CYT4, cytohesin-4 uc003arf.3 Q9UIA0 OTTHUMG00000150562 ENST00000248901.6:c.547+949A>G chr22.hg19:g.37698009A>G NA Q5R3F9|Q9UGT6 hg19 CCDS13946.1 0.02 1.643051 CTGxGAT COVERED NOVEL CYTH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318917.1 8 4.247136 KEEP 1 1 34 26 827 AA 0.999988 0.99961 0 + 4 60 131 0 0 8.304924 68 60 2072 160 ENST00000248901.6 0.055556 0.999622 LGALS2 3957 __UNKNOWN__ __UNKNOWN__ 22 37966821 37966821 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:37966821C>A ENST00000215886.4 - 3 264 NM_006498.2 NP_006489.1 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 NA NA carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1) 11 Melanoma(58;0.0574) CCTTGGTTGACCACaagctgg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(193;1840 2185 13711 20676 24505) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13950.1 22q13.1 2011-08-04 2007-02-01 ENSG00000100079 ENSG00000100079 3957 Lectins, galactoside-binding 6562 protein-coding gene gene with protein product galectin 2 150571 NA 1988031, 15356130 Standard NM_006498 NM_006498 NA Approved HL14 uc003ata.3 P05162 OTTHUMG00000150590 ENST00000215886.4:c.90-79G>T chr22.hg19:g.37966821C>A NA Q6FGY4 hg19 CCDS13950.1 0.02 -0.22797 TGAxCAC COVERED NOVEL LGALS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318991.1 1 6.566029 KEEP 0 0 0 22 682 CC 0.999879 0.58286 0 - 9 60 220 0 0 19.00461 17 60 571 52 ENST00000215886.4 0.346154 0.58293 EIF3L 51386 __UNKNOWN__ __UNKNOWN__ 22 38248036 38248036 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:38248036T>C ENST00000412331.2 + 3 875 EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Intron NM_016091.3 NP_057175.1 eukaryotic translation initiation factor 3, subunit L NA NA kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 gtcttgaacttctgacctcaa 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF083243 CCDS13960.1, CCDS56230.1 22q 2012-12-20 2009-01-07 2009-01-07 ENSG00000100129 ENSG00000100129 51386 18138 protein-coding gene gene with protein product eukaryotic translation initiation factor 3, subunit 6 interacting protein, eukaryotic translation initiation factor 3, subunit E interacting protein EIF3S6IP, EIF3EIP NA 11042152, 11590142 Standard NM_016091 NM_016091 NA Approved HSPC021, HSPC025, EIF3S11 uc003auf.3 Q9Y262 OTTHUMG00000150671 ENST00000412331.2:c.293+539T>C chr22.hg19:g.38248036T>C NA hg19 CCDS13960.1 0.02 -0.192886 ACTxCTG COVERED NOVEL EIF3L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319551.2 4 2.708141 KEEP 1 0 0 9 278 TT 0.99254 0.454342 0 + 3 60 86 0 0 6.36236 17 60 491 44 ENST00000412331.2 0.15 0.457757 MICALL1 85377 __UNKNOWN__ __UNKNOWN__ 22 38333662 38333662 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:38333662T>C ENST00000215957.6 + 15 2549 MICALL1_ENST00000402631.1_Intron NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 NA NA endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458) extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038) identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) aactcctgacttcaggtgatc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BK000466 CCDS13961.1 22q13.1 2006-11-24 ENSG00000100139 ENSG00000100139 85377 29804 protein-coding gene gene with protein product molecule interacting with Rab13 NA 11258795, 12110185 Standard NM_033386 NM_033386 NA Approved MIRAB13, KIAA1668, MICAL-L1 uc003aui.3 Q8N3F8 OTTHUMG00000150670 ENST00000215957.6:c.2424-91T>C chr22.hg19:g.38333662T>C NA Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45 hg19 CCDS13961.1 0.02 -0.342005 GACxTCA COVERED NOVEL MICALL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319545.4 5 3.309879 KEEP 2 0 0 11 344 TT 0.993072 0.871627 0 + 3 60 96 0 0 6.710436 29 60 846 62 ENST00000215957.6 0.09375 0.877708 MAFF 23764 __UNKNOWN__ __UNKNOWN__ 22 38612122 38612122 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:38612122T>C ENST00000338483.2 + 0 2094 MAFF_ENST00000538320.1_3'UTR|MAFF_ENST00000426621.2_3'UTR|MAFF_ENST00000538999.1_3'UTR|MAFF_ENST00000407965.1_3'UTR Q9ULX9 MAFF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F NA NA blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366) nucleoplasm (GO:0005654) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) lung(2)|skin(1) 3 Melanoma(58;0.045) gtggctcacatctgtaatccc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ010857 CCDS13968.1, CCDS54528.1 22q13.1 2013-07-09 2013-07-09 ENSG00000185022 ENSG00000185022 23764 6780 protein-coding gene gene with protein product 604877 NA 10591208 Standard NM_001161572 NM_012323 NA Approved hMafF uc011anr.2 Q9ULX9 OTTHUMG00000151163 ENST00000338483.2:c.*1237T>C chr22.hg19:g.38612122T>C NA B4DV49|Q9Y525 hg19 CCDS13968.1 0.02 -0.377134 ACAxCTG COVERED NOVEL MAFF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321624.1 8 3.610834 KEEP 0 0 0 12 373 TT 0.993634 0.903281 0 + 3 60 100 0 0 6.840577 36 60 1067 69 ENST00000338483.2 0.076923 0.909069 SUN2 25777 __UNKNOWN__ __UNKNOWN__ 22 39146853 39146853 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:39146853G>A ENST00000405510.1 - 5 783 SUN2_ENST00000411587.2_Intron|SUN2_ENST00000406622.1_Intron|SUN2_ENST00000405018.1_Intron|SUN2_ENST00000216064.4_Intron NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335) condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993) identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 GCCTTCCTGAGGCCTCCCAGC 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 23 24 23 NA NA NA 22 NA NA 39146853 2202 4300 6502 SO:0001627 intron_variant AF202723 CCDS13978.1, CCDS56231.1 22q12-q13 2010-05-18 2010-05-18 2010-01-27 ENSG00000100242 ENSG00000100242 25777 14210 protein-coding gene gene with protein product 613569 unc-84 homolog B (C. elegans) UNC84B NA 10508607, 10375507 Standard XM_039332 NM_015374 NA Approved uc010gxq.2 Q9UH99 OTTHUMG00000151031 ENST00000405510.1:c.424+49C>T chr22.hg19:g.39146853G>A NA B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3 hg19 CCDS13978.1 0.02 1.365271 TGAxGCC COVERED NOVEL SUN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321057.1 0 11.429345 KEEP 0 0 0 38 1315 GG 1 0.999907 0 - 15 60 433 0 0 32.550088 79 60 2694 175 ENST00000405510.1 0.159574 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 39429620 39429620 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:39429620A>G NA NA APOBEC3D (339 upstream) : APOBEC3F (6988 downstream) NA NA NA ttttttttgaagtggagtctc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.39429620A>G NA hg19 0.02 -0.333266 TGAxGTG COVERED NOVEL 0 3 6.91999 KEEP 0 0 0 23 724 AA 0.999892 0.851892 0 3 60 99 0 0 6.887616 32 60 926 73 0.085714 0.851984 APOBEC3G 60489 __UNKNOWN__ __UNKNOWN__ 22 39476039 39476039 __UNKNOWN__ Intron SNP A A G rs562837228 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:39476039A>G ENST00000407997.3 + 3 528 APOBEC3G_ENST00000461827.1_Intron|APOBEC3G_ENST00000452957.2_Intron NM_021822.3 NP_068594.1 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G NA NA base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032) apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529) cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) acaagagcgaaactccatctc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF182420 CCDS13984.1 22q13.1-q13.2 2008-05-15 ENSG00000239713 ENSG00000239713 60489 Apolipoprotein B mRNA editing enzymes 17357 protein-coding gene gene with protein product 607113 NA 11863358 Standard NM_021822 NM_021822 NA Approved CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7 Q9HC16 OTTHUMG00000151081 ENST00000407997.3:c.172-899A>G chr22.hg19:g.39476039A>G NA B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8 hg19 CCDS13984.1 0.02 2.131966 CGAxACT COVERED NOVEL APOBEC3G-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321219.1 13 4.213101 KEEP 2 0 0 14 455 AA 0.995343 0.96292 0 + 4 60 133 0 1 9.310879 42 60 1252 88 ENST00000407997.3 0.086957 0.967425 APOBEC3H 164668 __UNKNOWN__ __UNKNOWN__ 22 39498434 39498434 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:39498434T>C ENST00000401756.1 + 5 619 APOBEC3H_ENST00000421988.2_Intron|APOBEC3H_ENST00000348946.4_Intron|APOBEC3H_ENST00000442487.3_Intron NM_001166003.1 NP_001159475.1 Q6NTF7 ABC3H_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H NA NA cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634) cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Melanoma(58;0.04) ggattacaggtgtgagccacc 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC069023 CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1 22q13.1 2007-02-01 ENSG00000100298 ENSG00000100298 164668 Apolipoprotein B mRNA editing enzymes 24100 protein-coding gene gene with protein product 610976 NA 16571802 Standard NM_181773 NM_001166003 NA Approved ARP10 uc021wpt.1 Q6NTF7 OTTHUMG00000151082 ENST00000401756.1:c.544-83T>C chr22.hg19:g.39498434T>C NA B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87 hg19 CCDS54530.1 0.02 3.97387 AGGxGTG COVERED NOVEL APOBEC3H-002 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000321230.1 5 11.932462 KEEP 0 1 6 42 1165 TT 1 0.999981 0 + 6 60 207 0 1 13.794295 91 70 2477 176 ENST00000401756.1 0.061856 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 39716903 39716903 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:39716903A>G NA NA RPL3 (509 upstream) : SYNGR1 (29026 downstream) NA NA NA tgtaatcccaacactttggga 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.39716903A>G NA hg19 0.02 -0.228007 CCAxCAC COVERED NOVEL 0 1 3.008952 KEEP 0 0 0 10 316 AA 0.992708 0.578679 0 3 60 98 0 0 7.305971 21 60 613 49 0.125 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 39716915 39716915 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:39716915A>G NA NA RPL3 (521 upstream) : SYNGR1 (29014 downstream) NA NA NA actttgggagaccgaggcggg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.39716915A>G NA hg19 0.02 -0.24556 GAGxCCG COVERED NOVEL 0 3 2.708123 KEEP 0 0 0 9 281 AA 0.99254 0.636563 0 3 60 103 0 0 7.694782 23 60 668 54 0.115385 0.641347 TNRC6B 23112 __UNKNOWN__ __UNKNOWN__ 22 40546018 40546018 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:40546018C>T ENST00000301923.9 + 4 347 TNRC6B_ENST00000402203.1_Intron NM_001024843.1 NP_001020014.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417) cytosol (GO:0005829) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(1) 1 AAAATAGTTTCGGTGGGGTGG 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029016 CCDS46712.1, CCDS46713.1, CCDS54533.1 22q13 2006-08-22 ENSG00000100354 ENSG00000100354 23112 Trinucleotide (CAG) repeat containing 29190 protein-coding gene gene with protein product 610740 NA Standard NM_015088 NA Approved KIAA1093 uc011aor.2 Q9UPQ9 OTTHUMG00000151114 ENST00000301923.9:c.46-6101C>T chr22.hg19:g.40546018C>T NA B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2 hg19 CCDS46712.1 0.02 0.96021 TTTxGGT COVERED NOVEL TNRC6B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321393.1 9 12.038223 KEEP 0 0 0 40 1342 CC 1 0.999919 0 + 5 60 140 0 0 7.943676 88 60 2859 194 ENST00000301923.9 0.053763 0.999919 SGSM3 27352 __UNKNOWN__ __UNKNOWN__ 22 40793345 40793345 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:40793345A>C ENST00000248929.9 + 2 78 SGSM3_ENST00000454798.2_Intron NM_015705.4 NP_056520.2 small G protein signaling modulator 3 NA NA cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 ctgaggcaggaggatcactta 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL022238 CCDS14002.1 22q13.1-q13.2 2013-07-09 2007-08-14 2007-08-14 ENSG00000100359 ENSG00000100359 27352 Small G protein signaling modulators 25228 protein-coding gene gene with protein product RUN and SH3 containing 3 610440 RUN and TBC1 domain containing 3 RUTBC3 NA 11214971, 17509819 Standard NM_015705 XM_005261572 NA Approved DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5 uc003ayu.1 Q96HU1 OTTHUMG00000151141 ENST00000248929.9:c.-111-3355A>C chr22.hg19:g.40793345A>C NA hg19 CCDS14002.1 0.02 -0.192943 AGGxGGA COVERED NOVEL SGSM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321504.2 7 3.310522 KEEP 0 0 0 11 365 AA 0.993072 0.487146 0 + 3 60 91 0 0 6.793399 18 60 543 48 ENST00000248929.9 0.142857 0.490544 SLC25A17 10478 __UNKNOWN__ __UNKNOWN__ 22 41185924 41185924 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:41185924G>T ENST00000435456.2 - 4 468 SLC25A17_ENST00000491545.1_Intron|SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000544408.1_Intron NM_006358.2 NP_006349.1 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 NA NA ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281) integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724) central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 ggattacaggggtgagccacc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y12860 CCDS14005.1, CCDS74868.1 22q13.2 2013-05-22 2002-08-29 ENSG00000100372 ENSG00000100372 10478 Solute carriers 10987 protein-coding gene gene with protein product peroxisomal membrane protein (34kD) 606795 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17 NA 9874197 Standard NM_006358 NM_006358 NA Approved PMP34 uc003azc.3 O43808 OTTHUMG00000151139 ENST00000435456.2:c.334+2604C>A chr22.hg19:g.41185924G>T NA A8KA59|Q5TFL0|Q9UGW8|Q9UGY7 hg19 CCDS14005.1 0.02 -0.184153 AGGxGTG COVERED NOVEL SLC25A17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321487.1 4 3.61141 KEEP 1 0 0 12 403 GG 0.994391 0.455189 0 - 3 60 88 0 0 6.633771 16 60 527 45 ENST00000435456.2 0.157895 0.457757 SLC25A17 10478 __UNKNOWN__ __UNKNOWN__ 22 41194880 41194880 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:41194880A>G ENST00000435456.2 - 2 249 SLC25A17_ENST00000491545.1_Intron|SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000544408.1_Intron NM_006358.2 NP_006349.1 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 NA NA ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281) integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724) central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 ccaggaggcgaaggttgcagt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y12860 CCDS14005.1, CCDS74868.1 22q13.2 2013-05-22 2002-08-29 ENSG00000100372 ENSG00000100372 10478 Solute carriers 10987 protein-coding gene gene with protein product peroxisomal membrane protein (34kD) 606795 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17 NA 9874197 Standard NM_006358 NM_006358 NA Approved PMP34 uc003azc.3 O43808 OTTHUMG00000151139 ENST00000435456.2:c.115+146T>C chr22.hg19:g.41194880A>G NA A8KA59|Q5TFL0|Q9UGW8|Q9UGY7 hg19 CCDS14005.1 0.02 -0.306908 GCGxAGG COVERED NOVEL SLC25A17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321487.1 1 5.115979 KEEP 0 0 0 17 551 AA 0.999366 0.799738 0 - 4 60 123 0 0 9.034869 27 60 769 58 ENST00000435456.2 0.129032 0.800245 SLC25A17 10478 __UNKNOWN__ __UNKNOWN__ 22 41195632 41195632 __UNKNOWN__ Intron SNP C C T rs149720085 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:41195632C>T ENST00000435456.2 - 2 188 SLC25A17_ENST00000491545.1_Intron|SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000544408.1_Intron NM_006358.2 NP_006349.1 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 NA NA ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281) integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724) central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 cccaaagtgccgggattacag 0.448 NA c||| 50 0.00998403 0.0363 0.0014 5008 , , NA 15309 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y12860 CCDS14005.1, CCDS74868.1 22q13.2 2013-05-22 2002-08-29 ENSG00000100372 ENSG00000100372 10478 Solute carriers 10987 protein-coding gene gene with protein product peroxisomal membrane protein (34kD) 606795 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17 NA 9874197 Standard NM_006358 NM_006358 NA Approved PMP34 uc003azc.3 O43808 OTTHUMG00000151139 ENST00000435456.2:c.55-545G>A chr22.hg19:g.41195632C>T NA A8KA59|Q5TFL0|Q9UGW8|Q9UGY7 hg19 CCDS14005.1 0.02 1.430199 TGCxGGG COVERED NOVEL SLC25A17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321487.1 10 3.144645 KEEP 0 1 30 21 722 CC 0.999879 0.993582 0 - 7 60 194 0 0 13.591922 49 60 1578 120 ENST00000435456.2 0.125 0.993703 DNAJB7 150353 __UNKNOWN__ __UNKNOWN__ 22 41256775 41256775 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:41256775T>C ENST00000307221.4 - 0 1355 XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 NA NA chaperone binding (GO:0051087) breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 ttctaccagcttcccgagtag 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF085232 CCDS14008.1 22q13.2 2011-09-02 ENSG00000172404 ENSG00000172404 150353 Heat shock proteins / DNAJ (HSP40) 24986 protein-coding gene gene with protein product 611336 NA 12477932 Standard NM_145174 NM_145174 NA Approved HSC3 uc003azj.3 Q7Z6W7 OTTHUMG00000151202 ENST00000307221.4:c.*294A>G chr22.hg19:g.41256775T>C NA Q2M220|Q5H904|Q8WYJ7 hg19 CCDS14008.1 0.02 12.167141 AGCxTCC COVERED NOVEL DNAJB7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321765.1 63 43.058611 KEEP 1 1 34 155 4881 TT 1 1 0 - 12 60 408 0 0 24.80744 280 60 8428 639 ENST00000307221.4 0.041096 1 XPNPEP3 63929 __UNKNOWN__ __UNKNOWN__ 22 41282579 41282579 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:41282579A>C ENST00000357137.4 + 4 876 XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000544094.1_Intron|XPNPEP3_ENST00000414396.1_Intron NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative NA NA glomerular filtration (GO:0003094)|protein processing (GO:0016485) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 cctgtaatccaagcactttgg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(145;306 1841 7037 21878 30110) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14007.1, CCDS74869.1 22q13.2 2010-07-20 ENSG00000196236 ENSG00000196236 63929 28052 protein-coding gene gene with protein product 613553 NA 15708373, 20179356 Standard NM_022098 NM_022098 NA Approved APP3, NPHPL1 uc003azh.3 Q9NQH7 OTTHUMG00000151312 ENST00000357137.4:c.792+60A>C chr22.hg19:g.41282579A>C NA B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0 hg19 CCDS14007.1 0.02 -0.263088 TCCxAGC COVERED NOVEL XPNPEP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322201.2 3 3.596508 KEEP 1 0 0 12 320 AA 0.993634 0.712749 0 + 3 60 102 0 0 7.594716 23 60 651 61 ENST00000357137.4 0.115385 0.717315 XPNPEP3 63929 __UNKNOWN__ __UNKNOWN__ 22 41303404 41303404 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:41303404A>G ENST00000357137.4 + 5 876 XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000544094.1_Intron NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative NA NA glomerular filtration (GO:0003094)|protein processing (GO:0016485) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 cagcctgggcaacagagcgag 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(145;306 1841 7037 21878 30110) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14007.1, CCDS74869.1 22q13.2 2010-07-20 ENSG00000196236 ENSG00000196236 63929 28052 protein-coding gene gene with protein product 613553 NA 15708373, 20179356 Standard NM_022098 NM_022098 NA Approved APP3, NPHPL1 uc003azh.3 Q9NQH7 OTTHUMG00000151312 ENST00000357137.4:c.793-187A>G chr22.hg19:g.41303404A>G NA B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0 hg19 CCDS14007.1 0.02 -0.192948 GGCxACA COVERED NOVEL XPNPEP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322201.2 4 2.406798 KEEP 1 0 0 8 254 AA 0.99257 0.454356 0 + 3 60 95 1 1 7.192553 18 60 531 39 ENST00000357137.4 0.142857 0.457757 RANGAP1 5905 __UNKNOWN__ __UNKNOWN__ 22 41664268 41664268 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:41664268C>T ENST00000455915.2 - 3 1710 RANGAP1_ENST00000356244.3_Intron|RANGAP1_ENST00000405486.1_Intron|RANGAP1_ENST00000407260.4_Intron P46060 RAGP1_HUMAN Ran GTPase activating protein 1 NA NA mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471) Ran GTPase activator activity (GO:0005098) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGACttttttcttttttttga 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X82260 CCDS14012.1 22q13 2013-01-17 ENSG00000100401 ENSG00000100401 5905 9854 protein-coding gene gene with protein product 602362 segregation distorter homolog (Drosophila) SD NA 7878053 Standard NM_002883 NM_002883 NA Approved Fug1, KIAA1835 uc003azu.3 P46060 OTTHUMG00000150940 ENST00000455915.2:c.241-108G>A chr22.hg19:g.41664268C>T NA Q96JJ2 hg19 CCDS14012.1 0.02 2.212223 TTTxTTT COVERED NOVEL RANGAP1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320606.1 15 7.559215 KEEP 1 1 31 36 1296 CC 1 0.999994 0 - 6 60 162 0 0 9.202393 95 60 3238 196 ENST00000455915.2 0.059406 0.999995 ACO2 50 __UNKNOWN__ __UNKNOWN__ 22 41914662 41914662 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:41914662G>A ENST00000396512.3 + 8 1124 ACO2_ENST00000466237.1_Intron|ACO2_ENST00000216254.4_Intron Q99798 ACON_HUMAN aconitase 2, mitochondrial NA NA cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506) breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 ACTGAGggccgggtggtggct 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AH006514 CCDS14017.1 22q13.2 2013-05-21 ENSG00000100412 ENSG00000100412 50 4.2.1.3 118 protein-coding gene gene with protein product aconitate hydratase, mitochondrial 100850 NA 10591208 Standard NM_001098 NM_001098 NA Approved ACONM uc003bac.3 Q99798 OTTHUMG00000030544 ENST00000396512.3:c.1107+86G>A chr22.hg19:g.41914662G>A NA O75809|Q5JZ41|Q6FHX0|Q8TAQ6 hg19 0.02 1.348313 GCCxGGT COVERED NOVEL ACO2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000259152.1 3 5.717971 KEEP 0 0 0 19 649 GG 0.99986 0.990825 0 + 4 60 121 1 2 7.662921 55 60 1821 122 ENST00000396512.3 0.067797 0.990964 POLR3H 171568 __UNKNOWN__ __UNKNOWN__ 22 41925793 41925793 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:41925793A>T ENST00000355209.4 - 6 905 POLR3H_ENST00000407461.1_Intron|POLR3H_ENST00000337566.5_Intron|POLR3H_ENST00000396504.2_Intron NM_001018050.2 NP_001018060.1 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) NA NA defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384) centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899) breast(1)|lung(5)|skin(1)|urinary_tract(1) 8 acagtctcgcactgtcacccg 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051452 CCDS14018.1, CCDS33651.1 22q13 2013-01-21 ENSG00000100413 ENSG00000100413 171568 RNA polymerase subunits 30349 protein-coding gene gene with protein product NA 11258795, 12391170 Standard NM_138338 XR_244356 NA Approved RPC8, KIAA1665 uc003baf.3 Q9Y535 OTTHUMG00000150971 ENST00000355209.4:c.562-453T>A chr22.hg19:g.41925793A>T NA B0QYH9|Q5M7Y8|Q96AE3|Q9BY95 hg19 CCDS14018.1 0.02 -0.306794 CGCxCTG COVERED NOVEL POLR3H-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320701.1 3 4.506269 KEEP 0 0 0 15 395 AA 0.99649 0.797437 0 - 4 60 117 0 0 8.265362 30 60 795 56 ENST00000355209.4 0.117647 0.800245 NHP2L1 4809 __UNKNOWN__ __UNKNOWN__ 22 42082828 42082828 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:42082828A>T ENST00000401959.1 - 1 88 NHP2L1_ENST00000402458.1_Intron|NHP2L1_ENST00000355257.3_Intron|NHP2L1_ENST00000463675.1_Intron NM_005008.3 NP_004999.1 P55769 NH2L1_HUMAN NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380) box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) endometrium(1)|kidney(1)|lung(1)|prostate(1) 4 atggggtttcaccatgttggt 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14022.1, CCDS33653.1 22q13 2009-01-06 2001-11-28 ENSG00000100138 ENSG00000100138 4809 7819 protein-coding gene gene with protein product small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5) 601304 non-histone chromosome protein 2 (S. cerevisiae)-like 1, sperm specific antigen 1 SSFA1 NA 8978773 Standard NM_001003796 NM_005008 NA Approved SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K uc003bav.3 P55769 OTTHUMG00000151189 ENST00000401959.1:c.228+1969T>A chr22.hg19:g.42082828A>T NA hg19 CCDS14022.1 0.02 -0.175404 TTCxCCA UNCOVERED NOVEL NHP2L1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321682.1 7 2.707777 KEEP 7 0 0 9 278 AA 0 0 0 - 3 40 90 0 0 6.910686 15 60 442 44 ENST00000401959.1 0.166667 0.387407 NDUFA6-AS1 100132273 __UNKNOWN__ __UNKNOWN__ 22 42529827 42529827 __UNKNOWN__ RNA SNP T T C rs113050497 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:42529827T>C ENST00000416037.2 + 0 1718 NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA NR_034118.1 NDUFA6 antisense RNA 1 (head to head) NA NA NA gctgggattataggcatgagc 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA BC039542 22q13.2 2013-03-18 2013-03-18 ENSG00000237037 ENSG00000237037 100132273 Long non-coding RNAs 45273 non-coding RNA RNA, long non-coding NA Standard NR_034118 NR_034118 NA Approved uc003bcd.1 OTTHUMG00000150917 ENST00000416037.2: chr22.hg19:g.42529827T>C NA hg19 0.02 1.871196 TTAxAGG COVERED NOVEL NDUFA6-AS1-001 KNOWN basic|exp_conf antisense NA processed_transcript OTTHUMT00000320522.4 12 3.310057 KEEP 1 0 0 11 344 TT 0.993072 0.979322 0 + 5 60 172 0 0 12.312071 50 60 1429 102 ENST00000416037.2 0.090909 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 42979644 42979644 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:42979644T>C NA NA RRP7B (1600 upstream) : POLDIP3 (82 downstream) NA NA NA gctgagatagtgccactgcac 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.42979644T>C NA hg19 0.02 -0.271691 TAGxGCC COVERED NOVEL 0 1 5.114241 KEEP 2 0 0 17 495 TT 0.999366 0.760405 0 3 52 100 0 0 7.293211 25 60 657 54 0.107143 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 43254440 43254440 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:43254440G>A NA NA ARFGAP3 (1032 upstream) : PACSIN2 (11336 downstream) NA NA NA tcatgcctgtgatcccagcac 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.43254440G>A NA hg19 0.02 1.102762 TGTxATC COVERED NOVEL 0 25 13.51363 KEEP 1 2 63 67 2354 GG 1 0.999862 0 6 60 170 0 0 10.797794 69 60 2272 222 0.08 0.999862 EFCAB6 64800 __UNKNOWN__ __UNKNOWN__ 22 44125257 44125257 __UNKNOWN__ Intron SNP G G A rs556735224|rs367684932 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:44125257G>A ENST00000262726.7 - 8 1011 EFCAB6_ENST00000356087.4_Intron|EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) calcium ion binding (GO:0005509) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) gattacaggcgtgagccacca 0.488 NA G||| 2 0.000399361 0 0 5008 , , NA 17526 0.002 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z82201 CCDS14049.1, CCDS14050.1 22q13.2 2013-01-10 ENSG00000186976 ENSG00000186976 64800 EF-hand domain containing 24204 protein-coding gene gene with protein product NA 11258795, 12612053 Standard NM_022785 NM_022785 NA Approved FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1 uc003bdy.2 Q5THR3 OTTHUMG00000150522 ENST00000262726.7:c.757+2321C>T chr22.hg19:g.44125257G>A NA A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5 hg19 CCDS14049.1 0.02 -0.20176 GGCxTGA COVERED NOVEL EFCAB6-010 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353176.1 5 2.708843 KEEP 3 0 0 9 316 GG 0.99257 0.4869 0 - 3 60 88 0 0 6.492777 18 60 598 48 ENST00000262726.7 0.142857 0.490544 KIAA0930 23313 __UNKNOWN__ __UNKNOWN__ 22 45601476 45601476 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:45601476G>C ENST00000336156.5 - 4 480 KIAA0930_ENST00000251993.7_Intron|KIAA0930_ENST00000443310.3_Intron|KIAA0930_ENST00000391627.2_Intron NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 NA NA endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 TGAACTGGCAGTTAGGAGGCT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 41 41 41 NA NA NA 22 NA NA 45601476 2203 4300 6503 SO:0001627 intron_variant AK025608 CCDS33665.1, CCDS33666.1 22q13.31 2011-02-23 2011-02-23 2011-02-23 ENSG00000100364 ENSG00000100364 23313 1314 protein-coding gene gene with protein product chromosome 22 open reading frame 9 C22orf9 NA 10231032 Standard NM_001009880 NM_015264 NA Approved bK268H5.C22.1 uc003bfw.1 Q6ICG6 OTTHUMG00000151263 ENST00000336156.5:c.414+34C>G chr22.hg19:g.45601476G>C NA B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2 hg19 CCDS33665.1 0.02 -0.236839 GCAxTTA COVERED NOVEL KIAA0930-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321975.2 0 9.029032 KEEP 0 0 0 30 1066 GG 0.999997 0.612405 0 - 16 60 532 0 0 52.907929 11 60 358 72 ENST00000336156.5 0.592593 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 45660776 45660776 __UNKNOWN__ IGR SNP G G A rs8138712 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:45660776G>A NA NA CTA-268H5.14 (1310 upstream) : UPK3A (20086 downstream) NA NA NA ccaacactttgggaggctgag 0.418 NA G||| 1465 0.292532 0.379 0.2305 5008 , , NA 14866 0.4563 NA 0.168 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.45660776G>A NA hg19 0.02 -0.087714 TTTxGGA UNCOVERED NOVEL 0 10 2.407927 KEEP 7 0 0 8 288 GG 0 0 0 5 60 145 0 0 14.198783 4 60 138 30 0.555556 0.099721 PPARA 5465 __UNKNOWN__ __UNKNOWN__ 22 46632128 46632128 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:46632128A>G ENST00000396000.2 + 0 2523 PPARA_ENST00000262735.5_3'UTR|PPARA_ENST00000407236.1_3'UTR Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha NA NA behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328) tggtgacagaacgagactctg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L02932 CCDS33669.1 22q12-q13.1 2013-01-16 2006-10-17 ENSG00000186951 ENSG00000186951 5465 Nuclear hormone receptors 9232 protein-coding gene gene with protein product 170998 peroxisome proliferative activated receptor, alpha PPAR NA 7684926, 10591208 Standard NM_001001928 XM_005261655 NA Approved hPPAR, NR1C1 uc003bgx.1 Q07869 OTTHUMG00000150443 ENST00000396000.2:c.*851A>G chr22.hg19:g.46632128A>G NA B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1 hg19 CCDS33669.1 0.02 -0.280639 AGAxCGA COVERED NOVEL PPARA-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318129.3 3 6.620772 KEEP 0 0 0 22 721 AA 0.999879 0.739582 0 + 3 60 102 0 0 7.492418 25 60 727 71 ENST00000396000.2 0.107143 0.739671 PPARA 5465 __UNKNOWN__ __UNKNOWN__ 22 46633416 46633416 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:46633416A>G ENST00000396000.2 + 0 3811 PPARA_ENST00000262735.5_3'UTR|PPARA_ENST00000407236.1_3'UTR Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha NA NA behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328) gattgcttgaacccaggaggt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L02932 CCDS33669.1 22q12-q13.1 2013-01-16 2006-10-17 ENSG00000186951 ENSG00000186951 5465 Nuclear hormone receptors 9232 protein-coding gene gene with protein product 170998 peroxisome proliferative activated receptor, alpha PPAR NA 7684926, 10591208 Standard NM_001001928 XM_005261655 NA Approved hPPAR, NR1C1 uc003bgx.1 Q07869 OTTHUMG00000150443 ENST00000396000.2:c.*2139A>G chr22.hg19:g.46633416A>G NA B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1 hg19 CCDS33669.1 0.02 -0.219176 TGAxCCC COVERED NOVEL PPARA-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318129.3 6 7.21967 KEEP 1 0 0 24 703 AA 0.999909 0.552837 0 + 3 60 87 0 0 6.396136 18 60 486 54 ENST00000396000.2 0.142857 0.552887 GTSE1 51512 __UNKNOWN__ __UNKNOWN__ 22 46709693 46709693 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:46709693C>T ENST00000454366.1 + 6 1139 NM_016426.6 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 NA NA DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017) cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) cgtgagccaccgtgcccagcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(153;542 1915 12487 29016 50495) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF223408 CCDS14074.2 22q13.2-q13.3 2008-06-10 ENSG00000075218 ENSG00000075218 51512 13698 protein-coding gene gene with protein product 607477 NA 10974554, 10984615, 12750368 Standard NM_016426 NM_016426 NA Approved GTSE-1, B99 uc011aqy.2 Q9NYZ3 OTTHUMG00000150486 ENST00000454366.1:c.928-94C>T chr22.hg19:g.46709693C>T NA B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557 hg19 CCDS14074.2 0.02 1.359555 CACxGTG COVERED NOVEL GTSE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318360.2 14 7.691577 KEEP 2 2 64 48 1626 CC 1 0.997553 0 + 5 60 156 0 0 10.234307 63 60 2061 162 ENST00000454366.1 0.073529 0.997553 TBC1D22A 25771 __UNKNOWN__ __UNKNOWN__ 22 47476789 47476789 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:47476789T>C ENST00000337137.4 + 12 1495 TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000406733.1_Intron NM_001284304.1|NM_001284305.1|NM_014346.2 NP_001271233.1|NP_001271234.1|NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A NA NA protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097) breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) gaggccgaggtgggtggatca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125705 CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1 22q13 2008-01-22 2005-01-05 2005-01-05 ENSG00000054611 ENSG00000054611 25771 1309 protein-coding gene gene with protein product chromosome 22 open reading frame 4 C22orf4 NA Standard NM_014346 XM_005261496 NA Approved uc003bib.3 Q8WUA7 OTTHUMG00000150332 ENST00000337137.4:c.1330-30615T>C chr22.hg19:g.47476789T>C NA B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5 hg19 CCDS14078.1 0.02 -0.263111 AGGxGGG UNCOVERED NOVEL TBC1D22A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317600.3 20 2.404815 KEEP 7 0 0 8 229 TT 0 0 0 + 5 60 166 0 0 13.459253 21 60 616 65 ENST00000337137.4 0.192308 0.739671 MOV10L1 54456 __UNKNOWN__ __UNKNOWN__ 22 50529135 50529135 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:50529135C>T ENST00000262794.5 + 1 180 MOV10L1_ENST00000475190.1_Intron|MOV10L1_ENST00000545383.1_Intron|MOV10L1_ENST00000540615.1_Intron|MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000395858.3_Intron NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10 RISC complex RNA helicase like 1 NA NA ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) intracellular (GO:0005622) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) gacggagtttcgctcttgttg 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF285604 CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1 22q13.33 2014-07-02 2014-07-02 ENSG00000073146 ENSG00000073146 54456 7201 protein-coding gene gene with protein product cardiac helicase activated by MEF2C protein 605794 Mov10 (mouse)-like 1, Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) NA 11279525 Standard NM_018995 NM_018995 NA Approved DJ402G11.8, DKFZp434B0717, CHAMP uc003bjj.3 Q9BXT6 OTTHUMG00000044648 ENST00000262794.5:c.97+521C>T chr22.hg19:g.50529135C>T NA A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9 hg19 CCDS14084.1 0.02 -0.236821 TTTxGCT COVERED NOVEL MOV10L1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000075009.2 0 2.407627 KEEP 0 0 0 8 264 CC 0.99257 0.607857 0 + 3 60 93 2 0 6.749475 22 60 679 41 ENST00000262794.5 0.12 0.612407 MIOX 55586 __UNKNOWN__ __UNKNOWN__ 22 50929018 50929018 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:50929018A>G ENST00000395732.3 + 0 1599 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase NA NA inositol catabolic process (GO:0019310) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234) aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ctgcactccaacctgggtatc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF197129 CCDS14092.1 22q13.3 2008-06-11 2005-06-15 2005-06-15 ENSG00000100253 ENSG00000100253 55586 14522 protein-coding gene gene with protein product kidney-specific protein 32 606774 aldehyde reductase (aldose reductase) like 6 ALDRL6 NA 10944187, 11716759 Standard NM_017584 NM_017584 NA Approved uc003bll.1 Q9UGB7 OTTHUMG00000150207 ENST00000395732.3:c.*764A>G chr22.hg19:g.50929018A>G NA Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8 hg19 0.02 1.643157 CCAxCCT COVERED NOVEL MIOX-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000316837.1 15 4.380278 KEEP 0 2 76 41 1309 AA 1 0.999622 0 + 4 60 141 0 0 9.137408 75 60 2192 187 ENST00000395732.3 0.050633 0.999622 CHKB 1120 __UNKNOWN__ __UNKNOWN__ 22 51019248 51019248 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chr22:51019248A>G ENST00000406938.2 - 5 799 CHKB_ENST00000463053.1_Intron NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta NA NA CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) ttgctctgtcacccaggctgg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029886 CCDS14099.1 22q13.33 2011-02-16 2004-04-19 2004-04-19 ENSG00000100288 ENSG00000100288 1120 1938 protein-coding gene gene with protein product 612395 choline kinase-like CHKL NA 9224698, 15003397 Standard NM_005198 NM_005198 NA Approved CHETK uc003bmv.3 Q9Y259 OTTHUMG00000150275 ENST00000406938.2:c.582-159T>C chr22.hg19:g.51019248A>G NA A0PJM6|Q13388 hg19 CCDS14099.1 0.02 -0.315604 GTCxCCC COVERED NOVEL CHKB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317267.3 6 4.51214 KEEP 4 0 0 15 435 AA 0.997832 0.81669 0 - 3 60 102 0 0 7.353549 28 60 751 62 ENST00000406938.2 0.096774 0.818465 ARSD 414 __UNKNOWN__ __UNKNOWN__ X 2825068 2825068 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:2825068A>G ENST00000381154.1 - 0 2101 NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D NA NA cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872) large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) tgaggcaggaaaatcgcttga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X83572 CCDS35196.1 Xp22.3 2013-02-14 ENSG00000006756 ENSG00000006756 414 Arylsulfatase family 717 protein-coding gene gene with protein product 300002 NA 7720070 Standard NM_001669 NA Approved uc004cqy.3 P51689 OTTHUMG00000021077 ENST00000381154.1:c.*244T>C chrX.hg19:g.2825068A>G NA Q9UHJ8 hg19 CCDS35196.1 0.02 -0.412213 GGAxAAT COVERED NOVEL ARSD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055636.1 2 8.423252 KEEP 2 0 0 28 894 AA 0.999997 0.941738 0 - 4 60 131 0 0 9.319149 37 70 1088 81 ENST00000381154.1 0.097561 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 4949532 4949532 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:4949532T>C NA NA AC074035.1 (312577 upstream) : SNORA20 (378630 downstream) NA NA NA ctttttgagatggagttttgc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.4949532T>C NA hg19 0.02 -0.25432 AGAxGGA COVERED NOVEL 0 11 2.40742 KEEP 6 0 0 8 254 TT 0.99257 0.663556 0 3 60 102 0 1 7.542554 24 60 694 61 0.111111 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 4949540 4949540 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:4949540T>C NA NA AC074035.1 (312585 upstream) : SNORA20 (378622 downstream) NA NA NA gatggagttttgctcttgttg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.4949540T>C NA hg19 0.02 -0.271871 TTTxGCT COVERED NOVEL 0 11 2.407358 KEEP 6 0 0 8 252 TT 0.99257 0.711986 0 5 60 166 0 0 13.197805 24 60 689 62 0.172414 0.717315 NLGN4X 57502 __UNKNOWN__ __UNKNOWN__ X 6133318 6133318 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:6133318A>G ENST00000381095.3 - 1 323 NLGN4X_ENST00000381092.1_Intron|NLGN4X_ENST00000275857.6_Intron|NLGN4X_ENST00000538097.1_Intron|NLGN4X_ENST00000381093.2_Intron|NLGN4X_ENST00000469740.1_Intron NM_001282145.1|NM_001282146.1|NM_181332.1 NP_001269074.1|NP_001269075.1|NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked NA NA adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ACggccgggcatggtggctca 0.488 NA A||| 1 0.000264901 0 0.0014 3775 , , NA 12030 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033086 CCDS14126.1 Xp22.33 2008-02-05 2004-05-21 2004-05-26 ENSG00000146938 ENSG00000146938 57502 14287 protein-coding gene gene with protein product 300427 neuroligin 4 NLGN4 NA 10574462 Standard NM_020742 XM_005274564 NA Approved KIAA1260, NLGN, HLNX uc004crr.3 Q8N0W4 OTTHUMG00000021093 ENST00000381095.3:c.304+13263T>C chrX.hg19:g.6133318A>G NA Q6UX10|Q9ULG0 hg19 CCDS14126.1 0.02 -0.175414 GGCxTGG COVERED NOVEL NLGN4X-004 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000055673.1 7 2.407069 KEEP 1 0 0 8 245 AA 0.99257 0.384528 0 - 3 60 99 0 0 7.891785 14 60 415 45 ENST00000381095.3 0.176471 0.387407 VCX 26609 __UNKNOWN__ __UNKNOWN__ X 7811910 7811910 __UNKNOWN__ Silent SNP C C T rs139523735 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:7811910C>T ENST00000381059.3 + 3 693 c.474C>T c.(472-474)agC>agT p.S158S VCX_ENST00000341408.4_Silent_p.S138S NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 158 10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. NA chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283) nucleolus (GO:0005730)|nucleus (GO:0005634) chromatin binding (GO:0003682) NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) GTCAGGAGAGCGAGGTGGAGG 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C 126,3189 3,107,13,1316,450 37 43 41 NA 474 NA 0 X dbSNP_134 41 114,5696 0,89,25,2083,1441 no coding-synonymous VCX NM_013452.2 3,196,38,3399,1891 TT,TC,T,CC,C NA 1.9621,3.8009,2.6301 158/207 7811910 240,8885 1889 3638 5527 SO:0001819 synonymous_variant AF167081 CCDS14128.1 Xp22.31 2008-02-05 2003-09-12 ENSG00000182583 ENSG00000182583 26609 12667 protein-coding gene gene with protein product 300229 variable charge, X chromosome NA 10607842, 10903929 Standard NM_013452 NM_013452 NA Approved VCX1, VCX10R, VCX-10r, VCX-B1 uc004crz.3 Q9H320 OTTHUMG00000028608 ENST00000381059.3:c.474C>T chrX.hg19:g.7811910C>T NA A0JNS5|Q4V774|Q9P0H3 hg19 CCDS14128.1 0.02 -0.069437 GAGxGAG UNCOVERED NOVEL VCX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000071474.1 2 3.310752 KEEP 11 0 0 11 389 CC 0 0 0 + 3 49 87 0 0 7.853402 5 40 138 34 ENST00000381059.3 0.375 0.054137 FAM9A 171482 __UNKNOWN__ __UNKNOWN__ X 8768414 8768414 __UNKNOWN__ Intron SNP G G C rs144289801 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:8768414G>C ENST00000543214.1 - 2 98 FAM9A_ENST00000381003.3_Intron NM_001171186.1 NP_001164657.1 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A NA NA nucleus (GO:0005634) endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 18 Hepatocellular(5;0.219) CCTATCCTTCGTGGCCCGTCC 0.647 NA -||| 27 0.00715232 0.0121 0 3775 , , NA 10874 0.003 NA 0.008 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14131.1 Xp22.32 2012-11-29 ENSG00000183304 ENSG00000183304 171482 18403 protein-coding gene gene with protein product testis expressed 39A 300477 NA Standard NM_174951 NM_174951 NA Approved TEX39A uc004csg.3 Q8IZU1 OTTHUMG00000021110 ENST00000543214.1:c.38-164C>G chrX.hg19:g.8768414G>C NA B7ZLH5|Q2M2D1 hg19 CCDS14131.1 0.02 1.765794 TTCxTGG COVERED NOVEL FAM9A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055697.1 1 6.619043 KEEP 7 0 0 22 733 GG 0.999879 0.997432 0 - 5 27 165 0 0 11.035527 66 60 2146 146 ENST00000543214.1 0.070423 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 9111194 9111194 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:9111194A>G NA NA RNA5SP499 (9207 upstream) : FAM9B (17460 downstream) NA NA NA ttcaagaccaacctgggcaac 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.9111194A>G NA hg19 0.02 -0.28942 CCAxCCT COVERED NOVEL 0 7 3.911608 KEEP 0 0 0 13 406 AA 0.994391 0.756619 0 3 60 100 0 0 7.15293 28 60 827 67 0.096774 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 9373942 9373942 __UNKNOWN__ IGR SNP A A G rs76141196 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:9373942A>G NA NA GS1-519E5.1 (130696 upstream) : TBL1X (57392 downstream) NA NA NA TGGATAAATCATCCCATTATT 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.9373942A>G NA hg19 0.02 -0.210381 ATCxTCC COVERED NOVEL 0 2 3.911403 KEEP 2 0 0 13 390 AA 0.994391 0.519232 0 4 40 121 0 0 9.315547 20 60 544 49 0.166667 0.522161 TBL1X 6907 __UNKNOWN__ __UNKNOWN__ X 9492199 9492199 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:9492199G>A ENST00000380961.1 + 3 204 TBL1X_ENST00000217964.7_Intron|TBL1X_ENST00000407597.2_Intron|TBL1X_ENST00000536365.1_Intron|TBL1X_ENST00000424279.1_Intron NM_001139468.1 NP_001132940.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked NA NA canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053) beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) gtagagacagggtttcaccat 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y12781 CCDS14133.1, CCDS48078.1 Xp22.3 2013-01-10 2002-05-22 2002-05-24 ENSG00000101849 ENSG00000101849 6907 WD repeat domain containing 11585 protein-coding gene gene with protein product 300196 transducin (beta)-like 1 TBL1 NA 10330347 Standard NM_005647 NM_005647 NA Approved EBI uc004csr.3 O60907 OTTHUMG00000021117 ENST00000380961.1:c.-273-10741G>A chrX.hg19:g.9492199G>A NA A8K044|A8K4J7|Q86UY2 hg19 CCDS48078.1 0.02 -0.149038 CAGxGTT UNCOVERED NOVEL TBL1X-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055708.1 10 2.407913 KEEP 3 0 0 8 288 GG 0 0 0 + 4 47 121 0 0 10.102641 12 60 380 32 ENST00000380961.1 0.25 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 9967585 9967585 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:9967585T>C NA NA AC002365.1 (31451 upstream) : WWC3 (16016 downstream) NA NA NA tctcgatctcttgacctcatg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.9967585T>C NA hg19 0.02 -0.140342 CTCxTGA UNCOVERED NOVEL 0 1 2.407518 KEEP 5 0 0 8 259 TT 0 0 0 3 60 94 0 0 7.67289 11 60 335 47 0.214286 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 13260972 13260972 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:13260972A>G NA NA RP11-791M20.1 (148280 upstream) : GS1-600G8.5 (23194 downstream) NA NA NA gcacacgcctataatcccagc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.13260972A>G NA hg19 0.02 -0.183999 CCTxTAA COVERED NOVEL 0 2 2.407131 KEEP 0 0 0 8 243 AA 0.99257 0.420331 0 3 60 95 0 0 7.335695 16 60 440 43 0.157895 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 13444789 13444789 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:13444789C>T NA NA RP11-1L9.1 (23651 upstream) : EGFL6 (142934 downstream) NA NA NA cacctataatcccagcacttt 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.13444789C>T NA hg19 0.02 -0.175428 AATxCCA COVERED NOVEL 0 9 3.009697 KEEP 1 0 0 10 354 CC 0.992708 0.384582 0 3 60 86 0 0 6.592263 14 60 465 37 0.176471 0.387407 TRAPPC2 6399 __UNKNOWN__ __UNKNOWN__ X 13731100 13731100 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:13731100A>G ENST00000380579.1 - 0 2041 TRAPPC2_ENST00000359680.5_3'UTR|TRAPPC2_ENST00000453655.2_3'UTR|TRAPPC2_ENST00000358231.5_3'UTR P0DI81 TPC2A_HUMAN trafficking protein particle complex 2 NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ion channel binding (GO:0044325)|transcription factor binding (GO:0008134) kidney(1) 1 ggtggctcacacctgtaatcc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF157061 CCDS48082.1, CCDS48083.1, CCDS48083.2 Xp22 2011-10-10 2005-01-26 ENSG00000196459 ENSG00000196459 6399 Trafficking protein particle complex 23068 protein-coding gene gene with protein product 300202 spondyloepiphyseal dysplasia, late SEDL NA 14597397 Standard NM_014563 NM_014563 NA Approved TRS20, SEDT, MIP-2A, ZNF547L, hYP38334 uc010nej.2 P0DI81 OTTHUMG00000021157 ENST00000380579.1:c.*1426T>C chrX.hg19:g.13731100A>G NA A6NEG0|O14582|Q9HD16 hg19 CCDS48082.1 0.02 1.383198 CACxCCT COVERED NOVEL TRAPPC2-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055805.2 17 6.919163 KEEP 4 3 106 60 1744 AA 1 0.999881 0 - 6 60 181 0 0 11.526687 80 60 2248 182 ENST00000380579.1 0.069767 0.999881 TRAPPC2 6399 __UNKNOWN__ __UNKNOWN__ X 13731318 13731318 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:13731318T>C ENST00000380579.1 - 0 1823 TRAPPC2_ENST00000359680.5_3'UTR|TRAPPC2_ENST00000453655.2_3'UTR|TRAPPC2_ENST00000358231.5_3'UTR P0DI81 TPC2A_HUMAN trafficking protein particle complex 2 NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ion channel binding (GO:0044325)|transcription factor binding (GO:0008134) kidney(1) 1 cctgtaatcctagcactttgg 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF157061 CCDS48082.1, CCDS48083.1, CCDS48083.2 Xp22 2011-10-10 2005-01-26 ENSG00000196459 ENSG00000196459 6399 Trafficking protein particle complex 23068 protein-coding gene gene with protein product 300202 spondyloepiphyseal dysplasia, late SEDL NA 14597397 Standard NM_014563 NM_014563 NA Approved TRS20, SEDT, MIP-2A, ZNF547L, hYP38334 uc010nej.2 P0DI81 OTTHUMG00000021157 ENST00000380579.1:c.*1208A>G chrX.hg19:g.13731318T>C NA A6NEG0|O14582|Q9HD16 hg19 CCDS48082.1 0.02 9.82798 TCCxAGC COVERED NOVEL TRAPPC2-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055805.2 93 4.670585 KEEP 1 9 316 126 3861 TT 1 1 0 - 14 60 482 2 0 31.122927 250 60 7191 604 ENST00000380579.1 0.05303 1 TRAPPC2 6399 __UNKNOWN__ __UNKNOWN__ X 13731334 13731334 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:13731334T>C ENST00000380579.1 - 0 1807 TRAPPC2_ENST00000359680.5_3'UTR|TRAPPC2_ENST00000453655.2_3'UTR|TRAPPC2_ENST00000358231.5_3'UTR P0DI81 TPC2A_HUMAN trafficking protein particle complex 2 NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ion channel binding (GO:0044325)|transcription factor binding (GO:0008134) kidney(1) 1 tttgggaggctgaggcgggtg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF157061 CCDS48082.1, CCDS48083.1, CCDS48083.2 Xp22 2011-10-10 2005-01-26 ENSG00000196459 ENSG00000196459 6399 Trafficking protein particle complex 23068 protein-coding gene gene with protein product 300202 spondyloepiphyseal dysplasia, late SEDL NA 14597397 Standard NM_014563 NM_014563 NA Approved TRS20, SEDT, MIP-2A, ZNF547L, hYP38334 uc010nej.2 P0DI81 OTTHUMG00000021157 ENST00000380579.1:c.*1192A>G chrX.hg19:g.13731334T>C NA A6NEG0|O14582|Q9HD16 hg19 CCDS48082.1 0.02 7.557882 GGCxGAG COVERED NOVEL TRAPPC2-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055805.2 60 24.443207 KEEP 1 2 71 106 3316 TT 1 1 0 - 8 60 269 0 0 16.074032 196 60 5822 451 ENST00000380579.1 0.039216 1 TRAPPC2 6399 __UNKNOWN__ __UNKNOWN__ X 13731440 13731440 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:13731440A>G ENST00000380579.1 - 0 1701 TRAPPC2_ENST00000359680.5_3'UTR|TRAPPC2_ENST00000453655.2_3'UTR|TRAPPC2_ENST00000358231.5_Intron P0DI81 TPC2A_HUMAN trafficking protein particle complex 2 NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ion channel binding (GO:0044325)|transcription factor binding (GO:0008134) kidney(1) 1 gtggtggtgcatgcctgtaat 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF157061 CCDS48082.1, CCDS48083.1, CCDS48083.2 Xp22 2011-10-10 2005-01-26 ENSG00000196459 ENSG00000196459 6399 Trafficking protein particle complex 23068 protein-coding gene gene with protein product 300202 spondyloepiphyseal dysplasia, late SEDL NA 14597397 Standard NM_014563 NM_014563 NA Approved TRS20, SEDT, MIP-2A, ZNF547L, hYP38334 uc010nej.2 P0DI81 OTTHUMG00000021157 ENST00000380579.1:c.*1086T>C chrX.hg19:g.13731440A>G NA A6NEG0|O14582|Q9HD16 hg19 CCDS48082.1 0.02 -0.166601 TGCxTGC COVERED NOVEL TRAPPC2-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055805.2 4 5.414773 KEEP 1 0 0 18 530 AA 0.999859 0.353897 0 - 3 60 89 0 0 6.734498 16 60 444 41 ENST00000380579.1 0.157895 0.353947 ASB11 140456 __UNKNOWN__ __UNKNOWN__ X 15300081 15300081 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:15300081A>G ENST00000380470.3 - 0 2485 ASB11_ENST00000537676.1_Intron NM_001201583.1|NM_080873.2 NP_001188512.1|NP_543149.1 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase NA NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) gcctcccaaaatgctgggatt 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF425642 CCDS14164.1, CCDS35209.1, CCDS56596.1 Xp22.31 2014-02-10 2014-02-10 ENSG00000165192 ENSG00000165192 140456 Ankyrin repeat domain containing 17186 protein-coding gene gene with protein product 300626 ankyrin repeat and SOCS box-containing 11, ankyrin repeat and SOCS box containing 11 NA 24337577 Standard NM_080873 NA Approved DKFZp779E2460 uc004cwp.2 Q8WXH4 OTTHUMG00000021173 ENST00000380470.3:c.*1546T>C chrX.hg19:g.15300081A>G NA E9PEN1|Q3SYC4|Q7Z667 hg19 CCDS56596.1 0.02 1.853616 AAAxTGC COVERED NOVEL ASB11-004 NOVEL basic|CCDS protein_coding NA protein_coding OTTHUMT00000354918.1 5 4.814997 KEEP 1 0 0 16 517 AA 0.997832 0.987397 0 - 5 60 158 0 0 10.956613 49 60 1441 99 ENST00000380470.3 0.092593 0.989542 CA5B 11238 __UNKNOWN__ __UNKNOWN__ X 15801039 15801039 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:15801039C>T ENST00000318636.3 + 0 1342 CA5B_ENST00000454127.2_3'UTR NM_007220.3 NP_009151.1 Q8WTZ4 CA5BL_HUMAN carbonic anhydrase VB, mitochondrial NA NA mitochondrion (GO:0005739) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2) 9 Hepatocellular(33;0.183) tcttgctctgctgcccaggct 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB021660 CCDS14171.1 Xp22.1 2008-08-13 ENSG00000169239 ENSG00000169239 11238 Carbonic anhydrases 1378 protein-coding gene gene with protein product 300230 NA 10409679 Standard NM_007220 XM_005274442 NA Approved uc004cxe.3 Q9Y2D0 OTTHUMG00000021183 ENST00000318636.3:c.*252C>T chrX.hg19:g.15801039C>T NA A6NEZ4 hg19 CCDS14171.1 0.02 -0.236844 CTGxTGC COVERED NOVEL CA5B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354933.1 4 6.019837 KEEP 0 0 0 20 724 CC 0.999863 0.612323 0 + 4 60 125 1 0 9.71354 20 60 673 50 ENST00000318636.3 0.166667 0.612407 ZRSR2 8233 __UNKNOWN__ __UNKNOWN__ X 15833696 15833696 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:15833696T>C ENST00000307771.7 + 8 581 NM_005089.3 NP_005080.1 Q15696 U2AFM_HUMAN zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 NA NA mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245) U12-type spliceosomal complex (GO:0005689) metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2) 48 Hepatocellular(33;0.183) tcccaaagtgttgggattaca 0.448 NA F, S, Mis MDS, CLL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(197;1631 3042 5741 31152) Rec yes X Xp22.1 8233 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 L 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC050451 CCDS14172.1 Xp22.1 2014-09-17 2006-09-26 2006-09-26 ENSG00000169249 ENSG00000169249 8233 Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing 23019 protein-coding gene gene with protein product 300028 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2, U2 small nuclear RNA auxiliary factor 1-like 2 U2AF1L2 NA 8586425, 9237760, 15146077 Standard NM_005089 NM_005089 NA Approved U2AF1-RS2, URP uc004cxg.4 Q15696 OTTHUMG00000021184 ENST00000307771.7:c.558-104T>C chrX.hg19:g.15833696T>C NA Q14D69 hg19 CCDS14172.1 0.02 1.839343 GTGxTGG COVERED NOVEL ZRSR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055889.1 8 6.280416 KEEP 0 2 60 42 1229 TT 1 0.998465 0 + 4 60 138 0 0 9.028409 67 60 1901 143 ENST00000307771.7 0.056338 0.998465 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 16045268 16045268 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:16045268T>C NA NA RNU5F-7P (110842 upstream) : GRPR (96410 downstream) NA NA NA cgtgagccactgcacccggcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.16045268T>C NA hg19 0.02 -0.20167 CACxGCA UNCOVERED NOVEL 0 7 2.407351 KEEP 1 0 0 8 252 TT 0 0 0 4 60 103 0 0 7.771751 17 60 508 40 0.190476 0.490544 SYAP1 94056 __UNKNOWN__ __UNKNOWN__ X 16781377 16781377 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:16781377T>C ENST00000380155.3 + 0 4047 NM_032796.3 NP_116185.2 Q96A49 SYAP1_HUMAN synapse associated protein 1 NA NA cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1) 10 Hepatocellular(33;0.0997) ccactgcacttcagcctgggt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF338728 CCDS14177.1 Xp22.31 2010-06-25 2010-06-25 ENSG00000169895 ENSG00000169895 94056 16273 protein-coding gene gene with protein product SAP47 homolog (Drosophila) NA 11483580 Standard NM_032796 NM_032796 NA Approved FLJ14495, PRO3113 uc004cxp.3 Q96A49 OTTHUMG00000021192 ENST00000380155.3:c.*2895T>C chrX.hg19:g.16781377T>C NA Q68CP1|Q96C60|Q96JQ6|Q96T20 hg19 CCDS14177.1 0.02 3.128938 ACTxCAG COVERED NOVEL SYAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055904.1 19 13.237027 KEEP 0 0 0 44 1303 TT 1 0.999999 0 + 10 60 310 1 0 21.316188 98 60 2645 239 ENST00000380155.3 0.092593 0.999999 REPS2 9185 __UNKNOWN__ __UNKNOWN__ X 17042166 17042166 __UNKNOWN__ Intron SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:17042166G>C ENST00000357277.3 + 4 717 REPS2_ENST00000303843.7_Intron|REPS2_ENST00000380064.4_Intron NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461) cytoplasm (GO:0005737) calcium ion binding (GO:0005509) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) aatcccagcagttggggaggc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF010233 CCDS14180.2, CCDS43919.1 Xp22.2 2013-01-10 ENSG00000169891 ENSG00000169891 9185 EF-hand domain containing 9963 protein-coding gene gene with protein product 300317 NA 9422736, 9928989 Standard NM_004726 NM_001080975 NA Approved POB1 uc004cxv.1 Q8NFH8 OTTHUMG00000021199 ENST00000357277.3:c.547-1016G>C chrX.hg19:g.17042166G>C NA A6PWZ6|O43428|Q5JNZ8|Q8NFI5 hg19 CCDS14180.2 0.02 -0.184228 GCAxTTG COVERED NOVEL REPS2-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000316778.1 6 2.407942 KEEP 0 0 0 8 291 GG 0.99257 0.454356 0 + 3 60 101 0 0 7.791956 18 60 628 43 ENST00000357277.3 0.142857 0.457757 BEND2 139105 __UNKNOWN__ __UNKNOWN__ X 18231934 18231934 __UNKNOWN__ Silent SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:18231934A>G ENST00000380033.4 - 3 468 c.336T>C c.(334-336)ctT>ctC p.L112L BEND2_ENST00000380030.3_Silent_p.L112L NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 112 NA NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 agctactgggaaggctgaggt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA X NA NA 18231934 199 119 318 SO:0001819 synonymous_variant AK128155 CCDS14184.1, CCDS55375.1 Xp22.22 2012-11-22 2008-10-03 2008-10-03 ENSG00000177324 ENSG00000177324 139105 BEN domain containing 28509 protein-coding gene gene with protein product chromosome X open reading frame 20 CXorf20 NA 12477932 Standard NM_153346 NM_153346 NA Approved MGC33653 uc004cyj.4 Q8NDZ0 OTTHUMG00000021211 ENST00000380033.4:c.336T>C chrX.hg19:g.18231934A>G NA E9PFY2|Q4V9S2|Q5JXE5 hg19 CCDS14184.1 0.02 -0.394571 GGGxAGG COVERED NOVEL BEND2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055940.1 2 5.716837 KEEP 0 0 0 19 588 AA 0.99986 0.92651 0 - 3 60 101 0 0 6.808902 40 60 1144 74 ENST00000380033.4 0.069767 0.92664 CDKL5 6792 __UNKNOWN__ __UNKNOWN__ X 18631235 18631235 __UNKNOWN__ Intron SNP G G A rs377388369|rs372573996|rs376234937 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:18631235G>A ENST00000379989.3 + 16 2437 CDKL5_ENST00000463994.1_Intron|CDKL5_ENST00000379996.3_Intron NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 NA NA neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773) cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) aaaaaaaaaagaaaaGTCCAT 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 37 38 38 NA NA NA X NA NA 18631235 2199 4293 6492 SO:0001627 intron_variant Y15057 CCDS14186.1 Xp22 2011-11-04 2002-11-26 2002-11-29 ENSG00000008086 ENSG00000008086 6792 Cyclin-dependent kinases 11411 protein-coding gene gene with protein product 300203 serine/threonine kinase 9 STK9 NA 9721213, 16935860 Standard NM_003159 XM_005274584 NA Approved EIEE2 uc004cym.3 O76039 OTTHUMG00000021214 ENST00000379989.3:c.2153-37G>A chrX.hg19:g.18631235G>A NA G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6 hg19 CCDS14186.1 0.02 -0.332186 AAAxAAA COVERED NOVEL CDKL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055945.2 7 2.708606 KEEP 0 0 0 9 310 GG 0.99254 0.845628 0 + 5 60 99 2 0 6.462266 25 60 723 65 ENST00000379989.3 0.166667 0.851984 MAP7D2 256714 __UNKNOWN__ __UNKNOWN__ X 20083006 20083006 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:20083006C>G ENST00000379643.5 - 2 168 MAP7D2_ENST00000452324.3_Intron|MAP7D2_ENST00000379651.3_Intron|MAP7D2_ENST00000443379.3_Intron NM_001168465.1 NP_001161937.1 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 NA NA microtubule cytoskeleton organization (GO:0000226) microtubule (GO:0005874) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 GGGCATGGCACCCGAGTCTGA 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC089400 CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1 Xp22.12 2008-02-05 ENSG00000184368 ENSG00000184368 256714 25899 protein-coding gene gene with protein product NA 12477932 Standard NM_152780 NM_152780 NA Approved FLJ14503 uc010nfo.2 Q96T17 OTTHUMG00000021228 ENST00000379643.5:c.131-83G>C chrX.hg19:g.20083006C>G NA B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792 hg19 CCDS55386.1 0.02 4.184667 GCAxCCG COVERED NOVEL MAP7D2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056003.2 5 38.825969 KEEP 0 0 0 129 4541 CC 1 0.999995 0 - 33 60 1142 0 0 100.919523 76 60 2547 349 ENST00000379643.5 0.302752 0.999995 RPS6KA3 6197 __UNKNOWN__ __UNKNOWN__ X 20172002 20172002 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:20172002A>G ENST00000379565.3 - 0 3944 NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 Acetylsalicylic acid(DB00945) gcctcccaaaatgctgggatt 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U08316 CCDS14197.1 Xp22.2-p22.1 2013-06-03 2002-08-29 ENSG00000177189 ENSG00000177189 6197 10432 protein-coding gene gene with protein product 300075 ribosomal protein S6 kinase, 90kD, polypeptide 3, mental retardation, X-linked 19, Coffin-Lowry syndrome MRX19, CLS NA 8141249, 11896450, 16879200 Standard NM_004586 XM_005274573 NA Approved RSK, RSK2, HU-3 uc004czu.3 P51812 OTTHUMG00000021231 ENST00000379565.3:c.*1514T>C chrX.hg19:g.20172002A>G NA B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7 hg19 CCDS14197.1 0.02 -0.350827 AAAxTGC COVERED NOVEL RPS6KA3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056011.3 5 3.009098 KEEP 1 0 0 10 320 AA 0.992708 0.871307 0 - 3 60 99 0 0 6.849793 33 60 987 70 ENST00000379565.3 0.083333 0.877708 RPS6KA3 6197 __UNKNOWN__ __UNKNOWN__ X 20217178 20217178 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:20217178C>T ENST00000379565.3 - 5 533 RPS6KA3_ENST00000544447.1_Intron|RPS6KA3_ENST00000379548.4_Intron|RPS6KA3_ENST00000540702.1_Intron NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 Acetylsalicylic acid(DB00945) ttagtagagacggggtttcac 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U08316 CCDS14197.1 Xp22.2-p22.1 2013-06-03 2002-08-29 ENSG00000177189 ENSG00000177189 6197 10432 protein-coding gene gene with protein product 300075 ribosomal protein S6 kinase, 90kD, polypeptide 3, mental retardation, X-linked 19, Coffin-Lowry syndrome MRX19, CLS NA 8141249, 11896450, 16879200 Standard NM_004586 XM_005274573 NA Approved RSK, RSK2, HU-3 uc004czu.3 P51812 OTTHUMG00000021231 ENST00000379565.3:c.326-3915G>A chrX.hg19:g.20217178C>T NA B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7 hg19 CCDS14197.1 0.02 -0.184193 AGAxGGG COVERED NOVEL RPS6KA3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056011.3 17 2.708467 KEEP 14 0 0 9 299 CC 0.99257 0.454356 0 - 4 40 102 0 0 7.968716 14 60 465 54 ENST00000379565.3 0.222222 0.457757 CNKSR2 22866 __UNKNOWN__ __UNKNOWN__ X 21515840 21515840 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:21515840G>T ENST00000379510.3 + 7 717 CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000425654.2_Intron|CNKSR2_ENST00000279451.4_Intron NM_014927.3 NP_055742.2 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 NA NA regulation of signal transduction (GO:0009966) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TATAAACGAGGTTACAATGTA 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 88 58 67 NA NA NA X NA NA 21515840 692 1588 2280 SO:0001627 intron_variant AB020709 CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1 Xp22.12 2013-01-10 ENSG00000149970 ENSG00000149970 22866 Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing 19701 protein-coding gene gene with protein product 300724 NA Standard NM_014927 NM_014927 NA Approved KIAA0902, CNK2, KSR2 uc004czx.2 Q8WXI2 OTTHUMG00000021233 ENST00000379510.3:c.682-65G>T chrX.hg19:g.21515840G>T NA B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1 hg19 CCDS14198.1 0.02 -0.350887 GAGxTTA COVERED NOVEL CNKSR2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056019.1 1 6.922615 KEEP 0 0 0 23 821 GG 0.999892 0.877613 0 + 4 60 110 0 0 7.268445 36 60 1234 90 ENST00000379510.3 0.1 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 23988406 23988406 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:23988406C>T NA NA CXorf58 (30782 upstream) : KLHL15 (13430 downstream) NA NA NA gatctcctgacctcatgatcc 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.23988406C>T NA hg19 0.02 -0.166678 TGAxCTC COVERED NOVEL 0 7 2.708852 KEEP 1 0 0 9 322 CC 0.99254 0.351306 0 3 31 94 1 0 7.310083 15 60 511 44 0.166667 0.353947 EIF2S3 1968 __UNKNOWN__ __UNKNOWN__ X 24081099 24081099 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:24081099A>G ENST00000253039.4 + 6 890 NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 ggtggctcacacctgtaatcc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L19161 CCDS14210.1 Xp22.2-p22.1 2008-07-31 2002-08-29 ENSG00000130741 ENSG00000130741 1968 3267 protein-coding gene gene with protein product eukaryotic translation initiation factor 2G 300161 eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD) EIF2G NA 8106381, 9736774 Standard NM_001415 NM_001415 NA Approved EIF2gamma, EIF2 uc004dbc.3 P41091 OTTHUMG00000021262 ENST00000253039.4:c.637+408A>G chrX.hg19:g.24081099A>G NA B5BTZ4 hg19 CCDS14210.1 0.02 -0.192936 CACxCCT COVERED NOVEL EIF2S3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056079.1 5 2.406877 KEEP 1 0 0 8 239 AA 0.99257 0.454356 0 + 4 60 133 0 0 10.863264 16 60 465 36 ENST00000253039.4 0.2 0.457757 EIF2S3 1968 __UNKNOWN__ __UNKNOWN__ X 24095225 24095225 __UNKNOWN__ 3'UTR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:24095225G>C ENST00000253039.4 + 0 1995 NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 tttTgagtctggctctgtcac 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L19161 CCDS14210.1 Xp22.2-p22.1 2008-07-31 2002-08-29 ENSG00000130741 ENSG00000130741 1968 3267 protein-coding gene gene with protein product eukaryotic translation initiation factor 2G 300161 eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD) EIF2G NA 8106381, 9736774 Standard NM_001415 NM_001415 NA Approved EIF2gamma, EIF2 uc004dbc.3 P41091 OTTHUMG00000021262 ENST00000253039.4:c.*323G>C chrX.hg19:g.24095225G>C NA B5BTZ4 hg19 CCDS14210.1 0.02 -0.394384 TCTxGCT COVERED NOVEL EIF2S3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056079.1 10 4.000289 KEEP 2 1 33 25 807 GG 0.999957 0.95445 0 + 4 60 123 0 0 8.521374 37 60 1180 83 ENST00000253039.4 0.097561 0.954491 EIF2S3 1968 __UNKNOWN__ __UNKNOWN__ X 24095441 24095441 __UNKNOWN__ 3'UTR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:24095441A>C ENST00000253039.4 + 0 2211 NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 cctcggcctcacaaagtgctg 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L19161 CCDS14210.1 Xp22.2-p22.1 2008-07-31 2002-08-29 ENSG00000130741 ENSG00000130741 1968 3267 protein-coding gene gene with protein product eukaryotic translation initiation factor 2G 300161 eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD) EIF2G NA 8106381, 9736774 Standard NM_001415 NM_001415 NA Approved EIF2gamma, EIF2 uc004dbc.3 P41091 OTTHUMG00000021262 ENST00000253039.4:c.*539A>C chrX.hg19:g.24095441A>C NA B5BTZ4 hg19 CCDS14210.1 0.02 5.227031 CTCxCAA COVERED NOVEL EIF2S3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056079.1 21 15.722443 KEEP 0 8 268 146 4526 AA 1 1 0 + 8 60 257 0 0 15.421436 167 60 4968 453 ENST00000253039.4 0.045714 1 PDK3 5165 __UNKNOWN__ __UNKNOWN__ X 24502405 24502405 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:24502405T>C ENST00000379162.4 + 2 341 PDK3_ENST00000441463.2_Intron NM_005391.4 NP_005382.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 NA NA cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740) NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 ggattacaggtgtgagccacc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L42452 CCDS14212.1, CCDS48088.1 Xp22.12 2008-02-05 2005-11-16 ENSG00000067992 ENSG00000067992 5165 8811 protein-coding gene gene with protein product 300906 pyruvate dehydrogenase kinase, isoenzyme 3 NA 7499431 Standard NM_005391 NM_001142386 NA Approved uc004dbh.3 Q15120 OTTHUMG00000021269 ENST00000379162.4:c.107-10454T>C chrX.hg19:g.24502405T>C NA B4DXG6 hg19 CCDS14212.1 0.02 -0.149106 AGGxGTG COVERED NOVEL PDK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056097.1 5 2.407012 KEEP 0 0 0 8 247 TT 0.99257 0.289832 0 + 3 60 99 0 0 7.978851 13 60 395 37 ENST00000379162.4 0.1875 0.292001 PCYT1B 9468 __UNKNOWN__ __UNKNOWN__ X 24635845 24635845 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:24635845A>G ENST00000379144.2 - 2 348 PCYT1B_ENST00000379145.1_Intron|PCYT1B_ENST00000356768.4_Intron NM_004845.4 NP_004836.2 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta NA NA CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789) choline-phosphate cytidylyltransferase activity (GO:0004105) breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) gattacaggcatgagccaccg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052510 CCDS14213.1, CCDS55391.1, CCDS55392.1 Xp22 2008-02-05 2005-09-05 ENSG00000102230 ENSG00000102230 9468 2.7.7.15 8755 protein-coding gene gene with protein product 604926 phosphate cytidylyltransferase 1, choline, beta isoform NA 9593753 Standard NM_004845 NM_004845 NA Approved CCT-beta, CTB uc004dbi.3 Q9Y5K3 OTTHUMG00000021270 ENST00000379144.2:c.217+1256T>C chrX.hg19:g.24635845A>G NA A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9 hg19 CCDS14213.1 0.02 -0.236788 GGCxTGA COVERED NOVEL PCYT1B-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056103.1 6 2.707982 KEEP 3 0 0 9 279 AA 0.99254 0.607839 0 - 4 60 129 0 0 9.962507 22 60 640 62 ENST00000379144.2 0.153846 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 39454155 39454155 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:39454155C>T NA NA RP11-157D23.2 (160077 upstream) : MIR3937 (66314 downstream) NA NA NA ggattacaggcgtgagccacc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.39454155C>T NA hg19 0.02 -0.227343 AGGxGTG COVERED NOVEL 0 6 2.707156 KEEP 5 0 0 9 311 CC 0.99254 0.578582 0 3 60 88 0 0 6.311672 21 60 681 62 0.125 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 39454166 39454166 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:39454166A>G NA NA RP11-157D23.2 (160088 upstream) : MIR3937 (66303 downstream) NA NA NA gtgagccaccacgcccggccA 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.39454166A>G NA hg19 0.02 -0.20171 ACCxCGC COVERED NOVEL 0 4 2.707922 KEEP 4 0 0 9 276 AA 0.99254 0.486885 0 5 60 166 0 0 13.756966 18 60 514 51 0.217391 0.490544 CXorf38 159013 __UNKNOWN__ __UNKNOWN__ X 40489150 40489150 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:40489150T>C ENST00000327877.5 - 0 1252 CXorf38_ENST00000378426.1_3'UTR NM_144970.2 NP_659407.1 Q8TB03 CX038_HUMAN chromosome X open reading frame 38 NA NA NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 ggattacaggtgtgagccatc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832829 CCDS14253.1 Xp11 2008-02-05 ENSG00000185753 ENSG00000185753 159013 28589 protein-coding gene gene with protein product NA Standard NM_144970 NM_144970 NA Approved MGC39350 uc004dew.3 Q8TB03 OTTHUMG00000024104 ENST00000327877.5:c.*266A>G chrX.hg19:g.40489150T>C NA B3KW28|D3DWB5|Q5JPF5|Q8N941 hg19 CCDS14253.1 0.02 -0.19293 AGGxGTG COVERED NOVEL CXorf38-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060685.3 5 4.812215 KEEP 0 0 0 16 484 TT 0.997832 0.456764 0 - 3 60 90 0 0 6.628097 19 60 552 47 ENST00000327877.5 0.136364 0.457757 MED14 9282 __UNKNOWN__ __UNKNOWN__ X 40572949 40572949 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:40572949T>C ENST00000324817.1 - 5 771 NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 NA NA androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809) NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 cctgcctcagtctcccaaagt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006651 CCDS14254.1 Xp11.4 2008-05-14 2007-07-30 2007-07-30 ENSG00000180182 ENSG00000180182 9282 2370 protein-coding gene gene with protein product 300182 cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa CXorf4, CRSP2 NA 9989412, 9598311 Standard NM_004229 NM_004229 NA Approved EXLM1, CRSP150, TRAP170, RGR1, CSRP uc004dex.4 O60244 OTTHUMG00000024107 ENST00000324817.1:c.652+80A>G chrX.hg19:g.40572949T>C NA Q4KMR7|Q9UNB3 hg19 CCDS14254.1 0.02 1.942362 CAGxCTC COVERED NOVEL MED14-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060692.1 4 3.536413 KEEP 3 1 29 22 606 TT 0.999892 0.96367 0 - 4 60 121 0 0 8.412896 35 60 978 93 ENST00000324817.1 0.102564 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 40696493 40696493 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:40696493G>A NA NA MED14-AS1 (98543 upstream) : USP9X (248394 downstream) NA NA NA ggctgggcgcggtggctcacg 0.532 NA G||| 1 0.000264901 8e-04 0 3775 , , NA 12463 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.40696493G>A NA hg19 0.02 1.286284 CGCxGTG COVERED NOVEL 0 6 8.727746 KEEP 1 0 0 29 992 GG 0.999997 0.984158 0 5 60 130 0 0 8.09045 52 60 1658 104 0.087719 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 40696530 40696530 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:40696530T>C NA NA MED14-AS1 (98580 upstream) : USP9X (248357 downstream) NA NA NA tttgggaggctgaggcgggcg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.40696530T>C NA hg19 0.02 -0.350813 GGCxGAG COVERED NOVEL 0 4 5.715065 KEEP 2 0 0 19 568 TT 0.99986 0.877585 0 3 60 103 0 0 7.106115 37 60 1106 73 0.075 0.877708 USP9X 8239 __UNKNOWN__ __UNKNOWN__ X 41025213 41025213 __UNKNOWN__ Missense_Mutation SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:41025213T>A ENST00000378308.2 + 16 2707 c.2074T>A c.(2074-2076)Tgt>Agt p.C692S USP9X_ENST00000324545.8_Missense_Mutation_p.C692S Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 692 NA axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020) co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221) NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 AGTTTACCTTTGTGATCGTGA 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(172;1807 2695 35459 49286) NA 0 141 137 138 NA NA NA X NA NA 41025213 2200 4300 6500 SO:0001583 missense X98296 CCDS43930.1, CCDS55403.1 Xp11.4 2010-08-03 2006-02-14 ENSG00000124486 ENSG00000124486 8239 Ubiquitin-specific peptidases 12632 protein-coding gene gene with protein product 300072 ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila), ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila), ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila) NA 8922996 Standard NM_004652 NM_001039590 NA Approved DFFRX, FAF uc004dfb.3 Q93008 OTTHUMG00000021367 ENST00000378308.2:c.2074T>A chrX.hg19:g.41025213T>A ENSP00000367558:p.Cys692Ser NA O75550|Q8WWT3|Q8WX12 hg19 CCDS55403.1 0.02 1.427401 CTTxGTG COVERED . . . . . . . . . . T 12.22 1.871730 0.33069 . . ENSG00000124486 ENST00000378308;ENST00000324545 T;T 0.02525 4.26;4.26 4.92 4.92 0.64577 Armadillo-like helical (1); 0.000000 0.85682 D 0.000000 T 0.00906 0.0030 N 0.00358 -1.6 0.80722 D 1 B;B 0.06786 0.001;0.001 B;B 0.04013 0.001;0.0 T 0.45542 -0.9254 10 0.02654 T 1 . 13.9129 0.63878 0.0:0.0:0.0:1.0 . 692;692 Q93008-1;Q93008 .;USP9X_HUMAN S 692 ENSP00000367558:C692S;ENSP00000316357:C692S ENSP00000316357:C692S C + 1 0 USP9X 40910157 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.905000 0.87416 1.730000 0.51580 0.486000 0.48141 TGT NOVEL USP9X-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056248.2 1 8.1238 KEEP 0 0 0 27 839 TT 0.999988 0.970808 0 + 14 60 388 0 0 32.326139 38 60 1130 102 ENST00000378308.2 0.269231 0.97082 CASK 8573 __UNKNOWN__ __UNKNOWN__ X 41643858 41643858 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:41643858T>C ENST00000421587.2 - 3 302 CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378154.1_Intron NM_001126055.2 NP_001119527.1 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) NA NA calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734) ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674) breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 aggctgggcgtggtggctcat 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(42;104 1086 3090 27189 35040) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF035582 CCDS14257.1, CCDS48094.1, CCDS48095.1 Xp11.4 2010-02-09 ENSG00000147044 ENSG00000147044 8573 1497 protein-coding gene gene with protein product 300172 trinucleotide repeat containing 8 TNRC8 NA 9722958 Standard NM_003688 NM_003688 NA Approved LIN2, CAGH39, FGS4 uc004dfl.4 O14936 OTTHUMG00000021378 ENST00000421587.2:c.278+2572A>G chrX.hg19:g.41643858T>C NA A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3 hg19 CCDS48094.1 0.02 -0.166629 GCGxGGT UNCOVERED NOVEL CASK-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000056282.1 13 2.407229 KEEP 7 0 0 8 246 TT 0 0 0 - 3 60 102 0 0 8.191895 14 60 402 39 ENST00000421587.2 0.176471 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 42069851 42069851 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:42069851G>C NA NA RNU6-1124P (36213 upstream) : RP1-154K9.2 (41860 downstream) NA NA NA ggatgatctcgatctcctgac 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.42069851G>C NA hg19 0.02 -0.175436 CTCxATC COVERED NOVEL 0 8 2.708612 KEEP 7 0 0 9 303 GG 0.99254 0.384517 0 5 40 164 0 0 14.31329 12 60 383 55 0.294118 0.387407 FUNDC1 139341 __UNKNOWN__ __UNKNOWN__ X 44384985 44384985 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:44384985A>G ENST00000378045.4 - 5 559 FUNDC1_ENST00000483115.1_Intron NM_173794.3 NP_776155.1 Q8IVP5 FUND1_HUMAN FUN14 domain containing 1 NA NA mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666) integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741) breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 cagctacttgagaggctgagg 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC042813 CCDS14263.1 Xp11.4 2005-09-22 ENSG00000069509 ENSG00000069509 139341 28746 protein-coding gene gene with protein product 300871 NA 12477932 Standard NM_173794 NM_173794 NA Approved MGC51029 uc004dgc.3 Q8IVP5 OTTHUMG00000021399 ENST00000378045.4:c.391-1464T>C chrX.hg19:g.44384985A>G NA hg19 CCDS14263.1 0.02 -0.122809 TTGxGAG COVERED NOVEL FUNDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056320.1 1 2.407477 KEEP 1 0 0 8 259 AA 0.99257 0.194853 0 - 3 60 102 0 0 8.472674 11 60 349 33 ENST00000378045.4 0.214286 0.196312 CXorf36 79742 __UNKNOWN__ __UNKNOWN__ X 45009406 45009406 __UNKNOWN__ 3'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:45009406C>T ENST00000398000.2 - 0 2867 CXorf36_ENST00000477281.1_5'UTR NM_176819.3 NP_789789.2 Q9H7Y0 DIA1R_HUMAN chromosome X open reading frame 36 NA NA extracellular region (GO:0005576) endometrium(1)|large_intestine(2)|lung(4) 7 ggattacaggcgtgagccacc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF289581 CCDS14266.1, CCDS48096.1 Xp11.3-p11.23 2012-08-03 ENSG00000147113 ENSG00000147113 79742 25866 protein-coding gene gene with protein product NA 11944989, 21283809 Standard NM_024689 NM_176819 NA Approved FLJ14103, DIA1R uc004dgg.2 Q9H7Y0 OTTHUMG00000021403 ENST00000398000.2:c.*1491G>A chrX.hg19:g.45009406C>T NA A8MUU5|B2RPN7|Q6UWJ5 hg19 CCDS48096.1 0.02 1.153158 AGGxGTG COVERED NOVEL CXorf36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056333.2 9 5.417552 KEEP 2 0 0 18 632 CC 0.999366 0.997568 0 - 5 60 145 0 0 9.273955 59 60 1983 129 ENST00000398000.2 0.078125 0.9982 CXorf36 79742 __UNKNOWN__ __UNKNOWN__ X 45011378 45011378 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:45011378A>G ENST00000398000.2 - 5 1036 CXorf36_ENST00000477281.1_Intron NM_176819.3 NP_789789.2 Q9H7Y0 DIA1R_HUMAN chromosome X open reading frame 36 NA NA extracellular region (GO:0005576) endometrium(1)|large_intestine(2)|lung(4) 7 tgaggcgggcagatcacttga 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF289581 CCDS14266.1, CCDS48096.1 Xp11.3-p11.23 2012-08-03 ENSG00000147113 ENSG00000147113 79742 25866 protein-coding gene gene with protein product NA 11944989, 21283809 Standard NM_024689 NM_176819 NA Approved FLJ14103, DIA1R uc004dgg.2 Q9H7Y0 OTTHUMG00000021403 ENST00000398000.2:c.962-141T>C chrX.hg19:g.45011378A>G NA A8MUU5|B2RPN7|Q6UWJ5 hg19 CCDS48096.1 0.02 1.789172 GGCxGAT COVERED NOVEL CXorf36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056333.2 8 3.009203 KEEP 1 0 0 10 315 AA 0.992708 0.974795 0 - 4 60 128 0 0 8.588616 48 60 1378 87 ENST00000398000.2 0.076923 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 45777783 45777783 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:45777783C>T NA NA RP5-1158E12.1 (1308 upstream) : RP1-30G7.2 (407575 downstream) NA NA NA ggattacaggcgtgagccacc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.45777783C>T NA hg19 0.02 -0.166649 AGGxGTG UNCOVERED NOVEL 0 6 2.407537 KEEP 1 0 0 8 276 CC 0 0 0 3 60 92 0 0 7.279044 13 60 412 39 0.1875 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 46054727 46054727 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:46054727A>T NA NA RP5-1158E12.1 (278252 upstream) : RP1-30G7.2 (130631 downstream) NA NA NA gctacttgggaggctgaggca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.46054727A>T NA hg19 0.02 -0.13131 GGGxGGC UNCOVERED NOVEL 0 12 2.407516 KEEP 10 0 0 8 260 AA 0 0 0 3 48 87 2 0 6.875596 12 60 345 42 0.2 0.229173 KRBOX4 55634 __UNKNOWN__ __UNKNOWN__ X 46321870 46321870 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:46321870G>A ENST00000344302.4 + 4 646 KRBOX4_ENST00000360017.5_Intron|KRBOX4_ENST00000298190.6_Intron|KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000487081.1_Intron|KRBOX4_ENST00000377919.2_Intron NM_001129898.1|NM_017776.2 NP_001123370.1|NP_060246.2 Q5JUW0 KRBX4_HUMAN KRAB box domain containing 4 NA NA regulation of transcription, DNA-templated (GO:0006355) intracellular (GO:0005622) nucleic acid binding (GO:0003676) NA gcttgaacccgggaggcagag 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14267.1, CCDS48097.1, CCDS48098.1 Xp11.3 2013-01-08 2013-01-08 2013-01-08 ENSG00000147121 ENSG00000147121 55634 - 26007 protein-coding gene gene with protein product hypothetical protein FLJ20344 300585 zinc finger protein 673, zinc finger family member 673 ZNF673 NA 11944989 Standard NM_017776 NM_001129898 NA Approved FLJ20344 uc004dgn.4 Q5JUW0 OTTHUMG00000021421 ENST00000344302.4:c.16-313G>A chrX.hg19:g.46321870G>A NA A8K0Y8|B3KU22|Q96EA3|Q9NXB1 hg19 CCDS48097.1 0.02 1.590401 CCCxGGA COVERED NOVEL KRBOX4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056359.2 11 6.62054 KEEP 2 0 0 22 709 GG 0.999892 0.98185 0 + 6 60 172 0 0 12.274686 41 60 1228 87 ENST00000344302.4 0.12766 0.981955 KRBOX4 55634 __UNKNOWN__ __UNKNOWN__ X 46321887 46321887 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:46321887A>G ENST00000344302.4 + 4 646 KRBOX4_ENST00000360017.5_Intron|KRBOX4_ENST00000298190.6_Intron|KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000487081.1_Intron|KRBOX4_ENST00000377919.2_Intron NM_001129898.1|NM_017776.2 NP_001123370.1|NP_060246.2 Q5JUW0 KRBX4_HUMAN KRAB box domain containing 4 NA NA regulation of transcription, DNA-templated (GO:0006355) intracellular (GO:0005622) nucleic acid binding (GO:0003676) NA agaggttgcaatgagccaaga 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14267.1, CCDS48097.1, CCDS48098.1 Xp11.3 2013-01-08 2013-01-08 2013-01-08 ENSG00000147121 ENSG00000147121 55634 - 26007 protein-coding gene gene with protein product hypothetical protein FLJ20344 300585 zinc finger protein 673, zinc finger family member 673 ZNF673 NA 11944989 Standard NM_017776 NM_001129898 NA Approved FLJ20344 uc004dgn.4 Q5JUW0 OTTHUMG00000021421 ENST00000344302.4:c.16-296A>G chrX.hg19:g.46321887A>G NA A8K0Y8|B3KU22|Q96EA3|Q9NXB1 hg19 CCDS48097.1 0.02 1.751504 GCAxTGA COVERED . . . . . . . . . . A 1.040 -0.679148 0.03378 . . ENSG00000147121 ENST00000397212 . . . 0.688 -0.62 0.11567 . . . . . T 0.30135 0.0755 . . . 0.09310 N 1 . . . . . . T 0.28073 -1.0055 4 0.33141 T 0.24 . . . . . . . . V 3 . ENSP00000380394:M3V M + 1 0 ZNF673 46206831 0.023000 0.18921 0.003000 0.11579 0.001000 0.01503 -0.097000 0.11042 -0.251000 0.09542 -0.637000 0.03976 ATG NOVEL KRBOX4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056359.2 13 3.546316 KEEP 2 1 38 25 801 AA 0.999957 0.999516 0 + 6 48 200 0 0 14.134739 60 60 1783 126 ENST00000344302.4 0.090909 0.999559 KRBOX4 55634 __UNKNOWN__ __UNKNOWN__ X 46333340 46333340 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:46333340A>G ENST00000344302.4 + 0 2040 KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000478600.1_Intron NM_001129898.1|NM_017776.2 NP_001123370.1|NP_060246.2 Q5JUW0 KRBX4_HUMAN KRAB box domain containing 4 NA NA regulation of transcription, DNA-templated (GO:0006355) intracellular (GO:0005622) nucleic acid binding (GO:0003676) NA cgcctgcctcagcttcccaaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14267.1, CCDS48097.1, CCDS48098.1 Xp11.3 2013-01-08 2013-01-08 2013-01-08 ENSG00000147121 ENSG00000147121 55634 - 26007 protein-coding gene gene with protein product hypothetical protein FLJ20344 300585 zinc finger protein 673, zinc finger family member 673 ZNF673 NA 11944989 Standard NM_017776 NM_001129898 NA Approved FLJ20344 uc004dgn.4 Q5JUW0 OTTHUMG00000021421 ENST00000344302.4:c.*893A>G chrX.hg19:g.46333340A>G NA A8K0Y8|B3KU22|Q96EA3|Q9NXB1 hg19 CCDS48097.1 0.02 -0.412189 CTCxGCT COVERED NOVEL KRBOX4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056359.2 4 6.01747 KEEP 0 0 0 20 617 AA 0.999863 0.941612 0 + 3 60 98 0 0 6.606903 37 60 1086 80 ENST00000344302.4 0.075 0.941741 ZNF674 641339 __UNKNOWN__ __UNKNOWN__ X 46358669 46358669 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:46358669T>C ENST00000523374.1 - 0 2565 NM_001039891.2|NM_001146291.1|NM_001190417.1 NP_001034980.1|NP_001139763.1|NP_001177346.1 Q2M3X9 ZN674_HUMAN zinc finger protein 674 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2) 2 acgatctcagttcactgcaac 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY971607 CCDS48099.1, CCDS55406.1 Xp11.3 2013-01-08 2010-09-15 ENSG00000251192 ENSG00000251192 641339 Zinc fingers, C2H2-type, - 17625 protein-coding gene gene with protein product 300573 MRX92 NA 16385466 Standard NM_001039891 NM_001039891 NA Approved ZNF673B uc004dgr.3 Q2M3X9 OTTHUMG00000021420 ENST00000523374.1:c.*609A>G chrX.hg19:g.46358669T>C NA B4DHE2|E9PHQ4 hg19 CCDS48099.1 0.02 3.819087 CAGxTCA COVERED NOVEL ZNF674-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056357.2 12 7.125465 KEEP 1 3 92 56 1848 TT 1 1 0 - 5 60 171 0 0 10.449809 116 60 3457 256 ENST00000523374.1 0.041322 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 46645165 46645165 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:46645165A>G NA NA SLC9A7 (26675 upstream) : RP2 (51209 downstream) NA NA NA ggtggctcacacctgtaatcc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.46645165A>G NA hg19 0.02 -0.280666 CACxCCT COVERED NOVEL 0 10 2.708403 KEEP 1 0 0 9 287 AA 0.99254 0.734154 0 3 60 103 0 0 7.497358 27 60 811 57 0.1 0.739671 UBA1 7317 __UNKNOWN__ __UNKNOWN__ X 47065219 47065219 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:47065219T>C ENST00000335972.6 + 15 1758 UBA1_ENST00000490869.1_Intron|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Intron NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 NA NA cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842) breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 tgccactgcattccagcctgt 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF258566 CCDS14275.1 Xp11.23 2014-08-13 2007-11-30 2007-11-30 ENSG00000130985 ENSG00000130985 7317 6.3.2.19 Ubiquitin-like modifier activating enzymes 12469 protein-coding gene gene with protein product UBA1, ubiquitin-activating enzyme E1 homolog (yeast), POC20 centriolar protein homolog (Chlamydomonas) 314370 ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing), ubiquitin-activating enzyme E1 A1S9T, GXP1, UBE1 NA 1845793 Standard NM_003334 NM_153280 NA Approved UBE1X, POC20, CFAP124 uc004dhj.4 P22314 OTTHUMG00000021436 ENST00000335972.6:c.1576-128T>C chrX.hg19:g.47065219T>C NA Q5JRR8|Q96E13 hg19 CCDS14275.1 0.02 7.87381 GCAxTCC COVERED NOVEL UBA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056389.1 38 17.992865 KEEP 1 4 138 108 3389 TT 1 1 0 + 8 60 258 0 0 15.223106 183 60 5314 433 ENST00000335972.6 0.041885 1 USP11 8237 __UNKNOWN__ __UNKNOWN__ X 47104993 47104993 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:47104993A>G ENST00000377107.2 + 17 2624 USP11_ENST00000218348.3_Intron P51784 UBP11_HUMAN ubiquitin specific peptidase 11 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 acccaggctgaagtgcagtgg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U44839 CCDS14277.1 Xp11.23 2008-02-05 2005-08-08 ENSG00000102226 ENSG00000102226 8237 Ubiquitin-specific peptidases 12609 protein-coding gene gene with protein product 300050 ubiquitin specific protease 11 NA 12838346 Standard NM_004651 XM_005272674 NA Approved UHX1 uc004dhp.3 P51784 OTTHUMG00000021437 ENST00000377107.2:c.2270+112A>G chrX.hg19:g.47104993A>G NA B2RTX1|Q8IUG6|Q9BWE1 hg19 0.02 -0.140296 CTGxAGT COVERED NOVEL USP11-002 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000056399.2 2 3.908755 KEEP 1 0 0 13 359 AA 0.994391 0.259501 0 + 3 60 95 0 0 7.882498 10 60 268 33 ENST00000377107.2 0.230769 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 47110944 47110944 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:47110944A>G NA NA USP11 (3217 upstream) : snoU13 (27581 downstream) NA NA NA ccaaagtgctaggattacagg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.47110944A>G NA hg19 0.02 -0.210449 GCTxGGA COVERED NOVEL 0 13 3.009317 KEEP 5 0 0 10 320 AA 0.992708 0.518353 0 4 60 133 0 0 11.069109 14 60 395 51 0.222222 0.522161 ARAF 369 __UNKNOWN__ __UNKNOWN__ X 47429209 47429209 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:47429209C>T ENST00000377045.4 + 14 1613 NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN A-Raf proto-oncogene, serine/threonine kinase NA NA cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006) mitochondrion (GO:0005739) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057) biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) GAGTTGTACCCTGTGTGGCCA 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X04790 CCDS35232.1, CCDS59164.1, CCDS75970.1 Xp11.3-p11.23 2014-06-26 2014-06-26 2005-01-19 ENSG00000078061 ENSG00000078061 369 646 protein-coding gene gene with protein product 311010 v-raf murine sarcoma 3611 viral oncogene homolog 1 ARAF1 NA Standard NM_001654 NA Approved uc004dic.2 P10398 OTTHUMG00000021446 ENST00000377045.4:c.1420-83C>T chrX.hg19:g.47429209C>T NA P07557|Q5H9B2|Q5H9B3 hg19 CCDS35232.1 0.02 -0.192964 ACCxTGT COVERED NOVEL ARAF-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056418.1 1 5.116072 KEEP 0 0 0 17 576 CC 0.999366 0.457467 0 + 8 60 229 0 0 20.452854 14 60 452 42 ENST00000377045.4 0.363636 0.457757 ZNF81 347344 __UNKNOWN__ __UNKNOWN__ X 47766211 47766211 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:47766211A>G ENST00000376954.1 + 6 645 ZNF81_ENST00000338637.7_Intron P51508 ZNF81_HUMAN zinc finger protein 81 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) gcgagactccacctcaaaaaa 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK126949 CCDS43933.1 Xp11.23 2013-01-08 2006-05-12 ENSG00000197779 ENSG00000197779 347344 Zinc fingers, C2H2-type, - 13156 protein-coding gene gene with protein product 314998 zinc finger protein 81 (HFZ20), mental retardation, X-linked 45 MRX45 NA 8507979, 15121780 Standard NM_007137 NM_007137 NA Approved HFZ20 uc022bvq.1 P51508 OTTHUMG00000021462 ENST00000376954.1:c.278-8112A>G chrX.hg19:g.47766211A>G NA Q6RX22|Q96QH6 hg19 CCDS43933.1 0.02 1.474341 TCCxCCT COVERED NOVEL ZNF81-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056455.2 22 11.13282 KEEP 3 0 0 37 1161 AA 0.999999 0.999906 0 + 4 60 134 1 1 8.416202 76 60 2271 201 ENST00000376954.1 0.05 0.999907 ZNF81 347344 __UNKNOWN__ __UNKNOWN__ X 47766212 47766212 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:47766212C>T ENST00000376954.1 + 6 645 ZNF81_ENST00000338637.7_Intron P51508 ZNF81_HUMAN zinc finger protein 81 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) cgagactccacctcaaaaaat 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK126949 CCDS43933.1 Xp11.23 2013-01-08 2006-05-12 ENSG00000197779 ENSG00000197779 347344 Zinc fingers, C2H2-type, - 13156 protein-coding gene gene with protein product 314998 zinc finger protein 81 (HFZ20), mental retardation, X-linked 45 MRX45 NA 8507979, 15121780 Standard NM_007137 NM_007137 NA Approved HFZ20 uc022bvq.1 P51508 OTTHUMG00000021462 ENST00000376954.1:c.278-8111C>T chrX.hg19:g.47766212C>T NA Q6RX22|Q96QH6 hg19 CCDS43933.1 0.02 1.094141 CCAxCTC COVERED NOVEL ZNF81-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056455.2 22 7.660613 KEEP 2 1 33 37 1329 CC 1 0.999894 0 + 5 60 131 1 1 7.464007 76 60 2609 202 ENST00000376954.1 0.061728 0.999895 HDAC6 10013 __UNKNOWN__ __UNKNOWN__ X 48678227 48678227 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:48678227C>G ENST00000334136.5 + 23 2365 HDAC6_ENST00000444343.2_Intron|HDAC6_ENST00000376619.2_Intron Q9UBN7 HDAC6_HUMAN histone deacetylase 6 NA NA aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471) alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) gattacaggcctgagccacca 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(112;205 1675 2305 8976 15959) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF132609 CCDS14306.1 Xp11.23 2014-06-12 ENSG00000094631 ENSG00000094631 10013 14064 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 90 300272 NA 10220385, 10048485 Standard NM_006044 NM_006044 NA Approved KIAA0901, JM21, HD6, FLJ16239, PPP1R90 uc004dks.1 Q9UBN7 OTTHUMG00000034496 ENST00000334136.5:c.2188-286C>G chrX.hg19:g.48678227C>G NA O94975|Q6NT75|Q7L3E5|Q96CY0 hg19 CCDS14306.1 0.02 3.516561 GGCxTGA COVERED NOVEL HDAC6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000083394.2 17 9.40013 KEEP 0 2 62 53 1876 CC 1 1 0 + 9 60 296 0 0 20.226507 105 60 3613 267 ENST00000334136.5 0.078947 1 CCDC120 90060 __UNKNOWN__ __UNKNOWN__ X 48927309 48927309 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:48927309A>G ENST00000376396.3 + 0 3773 CCDC120_ENST00000422185.2_3'UTR NM_001271835.1|NM_001271836.1|NM_033626.2 NP_001258764.1|NP_001258765.1|NP_296375.1 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 NA NA breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 gagccactgcacccagccCCA 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC008769 CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2 Xp11.23 2008-02-05 ENSG00000147144 ENSG00000147144 90060 28910 protein-coding gene gene with protein product NA 12477932 Standard NM_033626 NM_033626 NA Approved JM11 uc011mmr.3 Q96HB5 OTTHUMG00000021509 ENST00000376396.3:c.*1661A>G chrX.hg19:g.48927309A>G NA B4DFC1|B4DTU2|F5GZU4 hg19 CCDS14316.1 0.02 -0.350766 TGCxCCC COVERED NOVEL CCDC120-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000056528.1 6 4.211896 KEEP 0 0 0 14 430 AA 0.995343 0.87362 0 + 3 60 96 1 0 6.441597 36 60 1040 72 ENST00000376396.3 0.076923 0.877708 PRICKLE3 4007 __UNKNOWN__ __UNKNOWN__ X 49033501 49033501 __UNKNOWN__ Missense_Mutation SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:49033501C>A ENST00000376317.3 - 8 1100 c.1006G>T c.(1006-1008)Gac>Tac p.D336Y PRICKLE3_ENST00000540849.1_Missense_Mutation_p.D268Y|PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.D255Y NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 336 LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}. NA zinc ion binding (GO:0008270) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 AAGCAGCGGTCTGAGGCATGC 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 13 10 11 NA NA NA X NA NA 49033501 2186 4264 6450 SO:0001583 missense BC016856 CCDS14320.1 Xp11.23 2008-02-05 2007-09-18 2007-09-18 ENSG00000012211 ENSG00000012211 4007 6645 protein-coding gene gene with protein product 300111 LIM domain only 6 LMO6 NA 9344658 Standard NM_006150 XM_005272605 NA Approved uc004dmy.1 O43900 OTTHUMG00000024134 ENST00000376317.3:c.1006G>T chrX.hg19:g.49033501C>A ENSP00000365494:p.Asp336Tyr NA B7Z8F2|O76007|Q53XR5 hg19 CCDS14320.1 0.02 5.304415 GGTxTGA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 14.43|14.43 2.531673|2.531673 0.45073|0.45073 .|. .|. ENSG00000012211|ENSG00000012211 ENST00000376317;ENST00000536904;ENST00000540849|ENST00000453382 T;T;T|. 0.70164|. -0.44;-0.46;-0.44|. 4.96|4.96 4.1|4.1 0.47936|0.47936 Zinc finger, LIM-type (4);|. 0.179632|. 0.26923|. N|. 0.021807|. T|T 0.76891|0.76891 0.4051|0.4051 M|M 0.88570|0.88570 2.965|2.965 0.47511|0.47511 D|D 0.999445|0.999445 D;P;D|. 0.76494|. 0.994;0.9;0.999|. D;P;D|. 0.74674|. 0.91;0.863;0.984|. T|T 0.78710|0.78710 -0.2098|-0.2098 10|5 0.87932|. D|. 0|. -9.2259|-9.2259 9.8706|9.8706 0.41170|0.41170 0.0:0.8986:0.0:0.1014|0.0:0.8986:0.0:0.1014 .|. 298;255;336|. B7Z6S4;B7Z8F2;O43900|. .;.;PRIC3_HUMAN|. Y|I 336;255;268|348 ENSP00000365494:D336Y;ENSP00000441385:D255Y;ENSP00000446051:D268Y|. ENSP00000365494:D336Y|. D|R -|- 1|2 0|0 PRICKLE3|PRICKLE3 48920445|48920445 1.000000|1.000000 0.71417|0.71417 0.904000|0.904000 0.35570|0.35570 0.014000|0.014000 0.08584|0.08584 5.788000|5.788000 0.69020|0.69020 1.074000|1.074000 0.40909|0.40909 0.513000|0.513000 0.50165|0.50165 GAC|AGA NOVEL PRICKLE3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000060811.1 2 30.982176 KEEP 0 0 0 103 3598 CC 1 1 0 - 60 60 1654 0 0 141.116862 139 60 4719 436 ENST00000376317.3 0.301508 1 PRICKLE3 4007 __UNKNOWN__ __UNKNOWN__ X 49038655 49038655 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:49038655G>A ENST00000376317.3 - 3 407 PRICKLE3_ENST00000540849.1_Intron|PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Intron|PRICKLE3_ENST00000376310.3_Intron NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) NA NA zinc ion binding (GO:0008270) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 cactcgcctcggcctcccaaa 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016856 CCDS14320.1 Xp11.23 2008-02-05 2007-09-18 2007-09-18 ENSG00000012211 ENSG00000012211 4007 6645 protein-coding gene gene with protein product 300111 LIM domain only 6 LMO6 NA 9344658 Standard NM_006150 XM_005272605 NA Approved uc004dmy.1 O43900 OTTHUMG00000024134 ENST00000376317.3:c.312+1531C>T chrX.hg19:g.49038655G>A NA B7Z8F2|O76007|Q53XR5 hg19 CCDS14320.1 0.02 -0.20171 CTCxGCC COVERED NOVEL PRICKLE3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000060811.1 4 2.405336 KEEP 0 0 0 8 257 GG 0.99257 0.518282 0 - 3 60 88 0 0 6.561476 17 60 573 47 ENST00000376317.3 0.15 0.522161 SYP 6855 __UNKNOWN__ __UNKNOWN__ X 49047245 49047245 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:49047245A>G ENST00000479808.1 - 0 1603 SYP_ENST00000263233.4_Intron|SYP_ENST00000538567.1_Intron P08247 SYPH_HUMAN synaptophysin NA NA cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499) cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021) cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1) 15 all_lung(315;0.00016) caaagtgctgagattacaggc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X06389 CCDS14321.1 Xp11.23-p11.22 2014-02-19 ENSG00000102003 ENSG00000102003 6855 11506 protein-coding gene gene with protein product 313475 NA 3120152, 19377476 Standard NM_003179 NM_003179 NA Approved MRX96 uc004dmz.1 P08247 OTTHUMG00000034557 ENST00000479808.1:c.*649T>C chrX.hg19:g.49047245A>G NA B2R7L6|B7Z359|Q6P2F7 hg19 CCDS14321.1 0.02 3.558415 CTGxGAT COVERED NOVEL SYP-004 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357748.1 14 19.326501 KEEP 0 2 56 84 2698 AA 1 1 0 - 6 60 199 0 0 12.233448 123 60 3642 307 ENST00000479808.1 0.046512 1 CACNA1F 778 __UNKNOWN__ __UNKNOWN__ X 49065423 49065423 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:49065423C>T ENST00000376265.2 - 43 5048 CACNA1F_ENST00000323022.5_Intron|CACNA1F_ENST00000376251.1_Intron NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit NA NA axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) gtagctgggactacaggcttg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AA019975 CCDS35253.1, CCDS59166.1, CCDS59167.1 Xp11.23 2013-01-23 2007-02-16 ENSG00000102001 ENSG00000102001 778 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1393 protein-coding gene gene with protein product 300110 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) CSNB2, AIED NA 9344658, 9662400, 16382099, 12111638, 17525176 Standard NM_005183 NM_005183 NA Approved Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2 uc010nip.3 O60840 OTTHUMG00000022703 ENST00000376265.2:c.4987-279G>A chrX.hg19:g.49065423C>T NA A6NI29|F5CIQ9|O43901|O95226|Q9UHB1 hg19 CCDS35253.1 0.02 2.830615 GGAxTAC COVERED NOVEL CACNA1F-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358157.1 20 9.931469 KEEP 1 0 0 33 1166 CC 0.999998 0.999996 0 - 7 60 198 1 0 11.820041 104 60 3555 186 ENST00000376265.2 0.063063 0.999999 CACNA1F 778 __UNKNOWN__ __UNKNOWN__ X 49065562 49065562 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:49065562T>C ENST00000376265.2 - 42 5048 CACNA1F_ENST00000323022.5_Intron|CACNA1F_ENST00000376251.1_Intron NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit NA NA axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) gctgggattataggcatgagc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AA019975 CCDS35253.1, CCDS59166.1, CCDS59167.1 Xp11.23 2013-01-23 2007-02-16 ENSG00000102001 ENSG00000102001 778 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1393 protein-coding gene gene with protein product 300110 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) CSNB2, AIED NA 9344658, 9662400, 16382099, 12111638, 17525176 Standard NM_005183 NM_005183 NA Approved Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2 uc010nip.3 O60840 OTTHUMG00000022703 ENST00000376265.2:c.4986+159A>G chrX.hg19:g.49065562T>C NA A6NI29|F5CIQ9|O43901|O95226|Q9UHB1 hg19 CCDS35253.1 0.02 3.576016 TTAxAGG COVERED NOVEL CACNA1F-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358157.1 14 9.455494 KEEP 0 1 36 44 1290 TT 1 1 0 - 10 60 346 0 0 24.245569 115 60 3197 240 ENST00000376265.2 0.08 1 PHF8 23133 __UNKNOWN__ __UNKNOWN__ X 53971035 53971035 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:53971035T>C ENST00000322659.8 - 21 2664 PHF8_ENST00000338154.6_Intron|PHF8_ENST00000357988.5_Intron|PHF8_ENST00000338946.6_Intron NM_001184898.1 NP_001171827.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 NA NA brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270) endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 cctgtagtcctagctacttgg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029034 CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1 Xp11.22 2013-01-28 ENSG00000172943 ENSG00000172943 23133 Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type 20672 protein-coding gene gene with protein product jumonji C domain-containing histone demethylase 1F 300560 NA 10470851, 20023638, 20644565 Standard NM_015107 NM_015107 NA Approved ZNF422, KIAA1111, JHDM1F uc004dsu.3 Q9UPP1 OTTHUMG00000021622 ENST00000322659.8:c.2489-359A>G chrX.hg19:g.53971035T>C NA B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2 hg19 CCDS55419.1 0.02 -0.2017 TCCxAGC COVERED NOVEL PHF8-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000056785.2 9 2.407047 KEEP 1 0 0 8 243 TT 0.99257 0.4869 0 - 3 60 94 0 0 7.161947 17 60 493 43 ENST00000322659.8 0.15 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61685311 61685311 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:61685311C>T NA NA None (None upstream) : SPIN4 (881795 downstream) NA NA NA aagaggtccacgtatccactt 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.61685311C>T NA hg19 0.02 -0.245614 CCAxGTA COVERED NOVEL 0 11 4.850813 KEEP 45 1 34 28 968 CC 0.994391 0.63775 0 4 36 122 0 0 9.123365 24 40 798 134 0.142857 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61712675 61712675 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:61712675C>G NA NA None (None upstream) : SPIN4 (854431 downstream) NA NA NA atgcttctatctagtttttat 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.61712675C>G NA hg19 0.02 1.818367 TATxTAG COVERED NOVEL 0 27 3.505033 KEEP 62 3 107 49 1789 CC 0.999997 0.9937 0 4 40 139 0 0 9.793555 45 51 1547 251 0.081633 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61717857 61717857 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:61717857G>A NA NA None (None upstream) : SPIN4 (849249 downstream) NA NA NA ccttcaaagaggtccaaatat 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.61717857G>A NA hg19 0.02 1.432359 AGAxGTC COVERED NOVEL 0 31 8.062702 KEEP 44 1 35 39 1422 GG 0.999997 0.998693 0 4 60 125 0 0 7.94438 59 42 2012 224 0.063492 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61719743 61719743 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:61719743C>T NA NA None (None upstream) : SPIN4 (847363 downstream) NA NA NA gtcctccaagcccgctaaata 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.61719743C>T NA hg19 0.02 0.861898 AAGxCCG COVERED NOVEL 0 9 12.937153 KEEP 20 0 0 43 1500 CC 0.999999 0.999918 0 6 41 161 0 0 9.413201 84 41 2832 188 0.066667 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61719818 61719818 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:61719818T>A NA NA None (None upstream) : SPIN4 (847288 downstream) NA NA NA ttcaactctgtgaggtgaatg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.61719818T>A NA hg19 0.02 2.719202 CTGxGAG COVERED NOVEL 0 24 13.008358 KEEP 31 2 68 67 2116 TT 1 1 0 6 40 181 0 0 10.32222 129 42 3910 379 0.044444 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61719855 61719855 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:61719855A>G NA NA None (None upstream) : SPIN4 (847251 downstream) NA NA NA gtttctgagaatgcttccgtt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.61719855A>G NA hg19 0.02 1.655448 AGAxTGC COVERED NOVEL 0 18 7.288695 KEEP 25 2 74 50 1500 AA 1 0.99993 0 7 40 235 0 0 16.164403 83 42 2212 214 0.077778 0.99993 ZC3H12B 340554 __UNKNOWN__ __UNKNOWN__ X 64727366 64727366 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:64727366A>G ENST00000338957.4 + 0 6855 ZC3H12B_ENST00000423889.3_3'UTR NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B NA NA endonuclease activity (GO:0004519)|metal ion binding (GO:0046872) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TATGGTAGCTAGCTATATACA 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX647241 CCDS48131.1, CCDS48131.2 Xq12 2012-07-05 2005-06-14 2005-06-14 ENSG00000102053 ENSG00000102053 340554 Zinc fingers, CCCH-type domain containing 17407 protein-coding gene gene with protein product MCP induced protein 2 300889 chromosome X open reading frame 32 CXorf32 NA 18178554 Standard XM_293334 NM_001010888 NA Approved MCPIP2 uc010nko.3 Q5HYM0 OTTHUMG00000021719 ENST00000338957.4:c.*4277A>G chrX.hg19:g.64727366A>G NA B2RTQ3|E9PAJ6|Q5H9C0 hg19 CCDS48131.2 0.02 -0.245547 GCTxGCT COVERED NOVEL ZC3H12B-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378734.2 1 4.212581 KEEP 0 0 0 14 432 AA 0.995343 0.638361 0 + 7 60 236 0 0 20.231184 20 60 571 53 ENST00000338957.4 0.259259 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 67846779 67846779 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:67846779A>G NA NA RNU6-245P (87388 upstream) : STARD8 (20728 downstream) NA NA NA gcctcccaaaatgctgggatt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.67846779A>G NA hg19 0.02 -0.131553 AAAxTGC COVERED NOVEL 0 8 2.708578 KEEP 0 0 0 9 302 AA 0.99254 0.227464 0 3 60 100 0 0 8.273067 11 60 317 34 0.214286 0.229173 EDA 1896 __UNKNOWN__ __UNKNOWN__ X 69156829 69156829 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:69156829C>T ENST00000374552.4 + 2 638 EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron|EDA_ENST00000502251.1_Intron NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A NA NA cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153) apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 tttttgttttcttttttTAAT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U59227 CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1 Xq12-q13.1 2013-05-22 2004-08-09 2004-08-12 ENSG00000158813 ENSG00000158813 1896 Tumor necrosis factor (ligand) superfamily 3157 protein-coding gene gene with protein product 300451 ectodermal dysplasia 1, anhidrotic, oligodontia 1 ED1, EDA2, ODT1 NA 8696334, 18657636, 16583127 Standard NM_001399 NM_001005612 NA Approved EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2 uc004dxs.3 Q92838 OTTHUMG00000021764 ENST00000374552.4:c.397-20048C>T chrX.hg19:g.69156829C>T NA A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4 hg19 CCDS14394.1 0.02 -0.412251 TTTxTTT COVERED NOVEL EDA-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000057048.2 1 4.514705 KEEP 0 0 0 15 525 CC 0.99649 0.938436 0 + 4 60 103 0 0 6.320386 42 60 1363 65 ENST00000374552.4 0.086957 0.941741 ARR3 407 __UNKNOWN__ __UNKNOWN__ X 69495717 69495717 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:69495717T>C ENST00000307959.8 + 6 196 ARR3_ENST00000374495.3_Intron NM_004312.2 NP_004303.2 P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) NA NA endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601) cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202) endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 16 ttagtagagatggggtttcac 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14399.1 Xq13.1 2013-10-11 ENSG00000120500 ENSG00000120500 407 710 protein-coding gene gene with protein product arrestin 4 301770 NA 8224247 Standard NM_004312 NM_004312 NA Approved ARRX uc004dyb.2 P36575 OTTHUMG00000021768 ENST00000307959.8:c.146-215T>C chrX.hg19:g.69495717T>C NA B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2 hg19 CCDS14399.1 0.02 -0.122739 AGAxGGG COVERED NOVEL ARR3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057055.2 1 6.310331 KEEP 0 0 0 21 582 TT 0.999869 0.196286 0 + 3 52 90 0 0 7.38282 10 60 262 35 ENST00000307959.8 0.230769 0.196312 GDPD2 54857 __UNKNOWN__ __UNKNOWN__ X 69650918 69650918 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:69650918C>G ENST00000374382.3 + 12 1558 GDPD2_ENST00000536730.1_Intron|GDPD2_ENST00000472623.1_Intron|GDPD2_ENST00000453994.2_Missense_Mutation_p.L468V|GDPD2_ENST00000538649.1_Intron NM_017711.3 NP_060181.2 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 NA NA glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872) NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) gattacaggcctgagccactg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 90 74 79 NA NA NA X NA NA 69650918 692 1591 2283 SO:0001627 intron_variant AK000214 CCDS14402.1, CCDS55437.1, CCDS55438.1 Xq13.1 2011-01-25 ENSG00000130055 ENSG00000130055 54857 25974 protein-coding gene gene with protein product osteoblast differentiation promoting factor NA 12975309 Standard NM_017711 NM_017711 NA Approved OBDPF, FLJ20207, GDE3 uc011mpk.2 Q9HCC8 OTTHUMG00000021776 ENST00000374382.3:c.1307+1005C>G chrX.hg19:g.69650918C>G NA B4DRH4|B4DVC9|Q9NXJ6 hg19 CCDS14402.1 0.02 3.595639 GGCxTGA COVERED . . . . . . . . . . C 0.068 -1.208715 0.01568 . . ENSG00000130055 ENST00000453994 T 0.00768 5.72 0.688 -0.72 0.11195 . . . . . T 0.00524 0.0017 . . . 0.09310 N 1 B 0.12013 0.005 B 0.08055 0.003 T 0.44081 -0.9351 6 . . . . . . . . 468 B4DVC9 . V 468 ENSP00000414019:L468V . L + 1 2 GDPD2 69567643 0.006000 0.16342 0.003000 0.11579 0.016000 0.09150 -0.694000 0.05115 -0.477000 0.06832 -0.884000 0.02946 CTG NOVEL GDPD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057070.1 19 16.854715 KEEP 0 0 0 56 1989 CC 1 0.999998 0 + 12 60 402 2 0 29.778171 92 60 3172 249 ENST00000374382.3 0.115385 0.999998 TEX11 56159 __UNKNOWN__ __UNKNOWN__ X 69942399 69942399 __UNKNOWN__ Intron SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:69942399C>A ENST00000395889.2 - 14 1205 TEX11_ENST00000344304.3_Intron|TEX11_ENST00000374320.2_Intron|TEX11_ENST00000374333.2_Intron NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 NA NA chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130) central element (GO:0000801) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) tgctgggattctaggtgtgag 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF285594 CCDS35323.1, CCDS43968.1 Xp11 2008-02-05 2007-03-13 ENSG00000120498 ENSG00000120498 56159 11733 protein-coding gene gene with protein product 300311 testis expressed sequence 11 NA 11279525 Standard NM_001003811 NA Approved TSGA3, TGC1 uc004dyl.3 Q8IYF3 OTTHUMG00000021782 ENST00000395889.2:c.1049+68G>T chrX.hg19:g.69942399C>A NA A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6 hg19 CCDS35323.1 0.02 1.023743 ATTxTAG COVERED NOVEL TEX11-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000359072.1 17 8.362452 KEEP 0 1 32 39 1390 CC 1 0.999956 0 - 7 60 202 0 0 12.906419 82 60 2806 198 ENST00000395889.2 0.078652 0.999956 TEX11 56159 __UNKNOWN__ __UNKNOWN__ X 69942400 69942400 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:69942400T>C ENST00000395889.2 - 14 1205 TEX11_ENST00000344304.3_Intron|TEX11_ENST00000374320.2_Intron|TEX11_ENST00000374333.2_Intron NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 NA NA chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130) central element (GO:0000801) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) gctgggattctaggtgtgagc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF285594 CCDS35323.1, CCDS43968.1 Xp11 2008-02-05 2007-03-13 ENSG00000120498 ENSG00000120498 56159 11733 protein-coding gene gene with protein product 300311 testis expressed sequence 11 NA 11279525 Standard NM_001003811 NA Approved TSGA3, TGC1 uc004dyl.3 Q8IYF3 OTTHUMG00000021782 ENST00000395889.2:c.1049+67A>G chrX.hg19:g.69942400T>C NA A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6 hg19 CCDS35323.1 0.02 1.537863 TTCxAGG COVERED NOVEL TEX11-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000359072.1 17 8.159841 KEEP 0 1 37 40 1245 TT 1 0.99994 0 - 5 60 176 0 0 11.704729 81 60 2394 197 ENST00000395889.2 0.05814 0.99994 IL2RG 3561 __UNKNOWN__ __UNKNOWN__ X 70331051 70331051 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:70331051A>G ENST00000374202.2 - 2 207 IL2RG_ENST00000456850.2_Intron NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma NA NA immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976) breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) agaccagcctaggcaacatag 0.512 NA Severe Combined Immunodeficiency, X-linked NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Agammaglobulinemia, Swiss Type D11086 CCDS14406.1 Xq13 2014-09-17 2010-06-24 ENSG00000147168 ENSG00000147168 3561 Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing 6010 protein-coding gene gene with protein product 308380 severe combined immunodeficiency, combined immunodeficiency, X-linked SCIDX1, IMD4, CIDX NA 1631559, 7883965 Standard NM_000206 NA Approved CD132 uc004dyw.2 P31785 OTTHUMG00000021787 ENST00000374202.2:c.116-151T>C chrX.hg19:g.70331051A>G NA Q5FC12 hg19 CCDS14406.1 0.02 3.461769 CCTxGGC COVERED NOVEL IL2RG-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057102.2 12 4.856618 KEEP 0 2 71 41 1235 AA 1 1 0 - 11 60 364 0 1 25.253686 120 60 3430 259 ENST00000374202.2 0.083969 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 70533430 70533430 __UNKNOWN__ IGR SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:70533430A>C NA NA ITGB1BP2 (8209 upstream) : TAF1 (52683 downstream) NA NA NA cctcggcctcacaaagtgctg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.70533430A>C NA hg19 0.02 -0.438554 CTCxCAA COVERED NOVEL 0 8 3.31022 KEEP 0 0 0 11 353 AA 0.993072 0.953209 0 5 60 168 0 0 12.52968 37 60 1108 83 0.119048 0.959859 PHKA1 5255 __UNKNOWN__ __UNKNOWN__ X 71799613 71799613 __UNKNOWN__ 3'UTR SNP T T C rs199689345 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:71799613T>C ENST00000373545.3 - 0 5223 PHKA1_ENST00000541944.1_3'UTR|PHKA1_ENST00000373542.4_3'UTR|PHKA1_ENST00000339490.3_3'UTR P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) NA NA carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|plasma membrane (GO:0005886) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) cacacacacatacacacacaA 0.333 NA t||| 3 0.000794702 0 0 3775 , , NA 15971 0.002 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14421.1, CCDS48137.1, CCDS55453.1 Xq12-q13 2009-07-10 ENSG00000067177 ENSG00000067177 5255 2.7.11.19 8925 protein-coding gene gene with protein product 311870 PHKA NA Standard NM_002637 NA Approved uc004eax.4 P46020 OTTHUMG00000022696 ENST00000373545.3:c.*1239A>G chrX.hg19:g.71799613T>C NA B7ZL05|B7ZL07|Q2M3D7 hg19 0.02 -0.254242 ACAxACA COVERED NOVEL PHKA1-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000058897.1 1 2.404776 KEEP 0 0 0 8 212 TT 0.99257 0.688515 0 - 3 60 101 0 0 7.392944 25 60 673 45 ENST00000373545.3 0.107143 0.693668 PABPC1L2A 340529 __UNKNOWN__ __UNKNOWN__ X 72297596 72297596 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:72297596G>A ENST00000373519.1 - 0 1755 NM_001012977.2 NP_001012995.1 Q5JQF8 PAP1M_HUMAN poly(A) binding protein, cytoplasmic 1-like 2A NA NA extracellular vesicular exosome (GO:0070062) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NA Renal(35;0.156) acacacgcacgcacacacacG 0.527 NA g||| 7 0.0018543 0.003 0.0014 3775 , , NA 12718 0.001 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041956 CCDS35334.1 Xq13.2 2013-02-12 2007-11-21 2007-11-21 ENSG00000186288 340529 RNA binding motif (RRM) containing 27989 protein-coding gene gene with protein product RNA binding motif protein 32A RBM32A NA 12477932 Standard NM_001012977 NM_001012977 NA Approved uc004ebg.2 Q5JQF8 ENST00000373519.1:c.*1027C>T chrX.hg19:g.72297596G>A NA B2RMV9|Q8IVU8 hg19 CCDS35334.1 0.02 1.188794 CACxCAC COVERED NOVEL PABPC1L2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057222.1 6 9.092228 KEEP 2 5 113 71 2089 GG 1 0.999881 0 - 12 60 301 0 0 21.039994 72 60 2131 193 ENST00000373519.1 0.142857 0.999881 XIST 7503 __UNKNOWN__ __UNKNOWN__ X 73067345 73067345 __UNKNOWN__ lincRNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:73067345A>G ENST00000429829.1 - 0 5243 NR_001564.2 X inactive specific transcript (non-protein coding) NA NA NA gtgagccaccacacccggccT 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA X NA NA 73067345 427 937 1364 M97168 Xq13.2 2013-12-18 2013-02-07 ENSG00000229807 ENSG00000229807 7503 Long non-coding RNAs, - 12810 non-coding RNA RNA, long non-coding long intergenic non-protein coding RNA 1 314670 X (inactive)-specific transcript, X (inactive)-specific transcript (non-protein coding) DXS399E NA 1985261, 2034279 Standard NR_001564 NR_001564 NA Approved NCRNA00001, DXS1089, swd66, LINC00001 uc004ebm.2 OTTHUMG00000021839 ENST00000429829.1: chrX.hg19:g.73067345A>G NA hg19 0.02 1.651906 ACCxCAC COVERED NOVEL XIST-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000057239.1 11 3.279221 KEEP 1 2 72 36 1105 AA 1 0.999559 0 - 4 60 138 0 0 8.883584 73 60 2148 177 ENST00000429829.1 0.051948 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 76457595 76457595 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:76457595T>C NA NA RNA5SP509 (170347 upstream) : FGF16 (252052 downstream) NA NA NA cctgtaatcctagcactttgg 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.76457595T>C NA hg19 0.02 -0.114027 TCCxAGC UNCOVERED NOVEL 0 5 2.407277 KEEP 0 0 0 8 250 TT 0.99257 0.16126 0 3 60 106 0 0 8.981975 10 60 299 30 0.230769 0.162467 MAGT1 84061 __UNKNOWN__ __UNKNOWN__ X 77124042 77124042 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:77124042A>G ENST00000373336.3 - 0 524 MAGT1_ENST00000358075.6_Intron Q9H0U3 MAGT1_HUMAN magnesium transporter 1 NA NA cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250) magnesium ion transmembrane transporter activity (GO:0015095) cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 gctgaggcagaagaatcactt 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14436.2 Xq21.1 2014-09-17 ENSG00000102158 ENSG00000102158 84061 28880 protein-coding gene gene with protein product oligosaccharyltransferase 3 homolog B (S. cerevisiae) 300715 NA 15804357 Standard NM_032121 NM_032121 NA Approved DKFZp564K142, IAP, OST3B, MRX95 uc004fof.3 Q9H0U3 OTTHUMG00000021882 ENST00000373336.3:c.*90T>C chrX.hg19:g.77124042A>G NA B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6 hg19 0.02 -0.245584 CAGxAGA COVERED NOVEL MAGT1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000057302.2 5 3.912465 KEEP 0 0 0 13 433 AA 0.994391 0.63775 0 - 4 60 128 0 0 10.013668 20 60 601 49 ENST00000373336.3 0.166667 0.641347 ATP7A 538 __UNKNOWN__ __UNKNOWN__ X 77266658 77266658 __UNKNOWN__ Intron SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:77266658C>G ENST00000341514.6 + 8 2024 ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide NA NA blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570) basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140) ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526) ATTTTTTTCTCATGAATTTCC 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 66 62 63 NA NA NA X NA NA 77266658 2203 4292 6495 SO:0001627 intron_variant L06133 CCDS35339.1, CCDS75997.1 Xq21.1 2012-10-22 2008-07-31 ENSG00000165240 ENSG00000165240 538 3.6.3.4 ATPases / P-type 869 protein-coding gene gene with protein product copper pump 1, copper-transporting ATPase 1 300011 Menkes syndrome MNK NA 10079817 Standard NM_000052 NM_000052 NA Approved uc004ecx.4 Q04656 OTTHUMG00000021885 ENST00000341514.6:c.1870-15C>G chrX.hg19:g.77266658C>G NA B1AT72|O00227|O00745|Q9BYY8 hg19 CCDS35339.1 0.02 -0.166682 TCTxATG COVERED NOVEL ATP7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057306.1 1 5.417241 KEEP 0 0 0 18 613 CC 0.999859 0.353897 0 + 11 60 383 0 0 37.931575 8 60 272 54 ENST00000341514.6 0.578947 0.353947 PCDH11X 27328 __UNKNOWN__ __UNKNOWN__ X 91147727 91147727 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:91147727A>G ENST00000373094.1 + 2 3878 PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373097.1_Intron NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked NA NA homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ttgagacggaatctcgctctg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(38;925 1092 2571 38200 45895) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB026187 CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1 Xq21.3 2014-06-13 2002-05-22 2002-05-24 ENSG00000102290 ENSG00000102290 27328 Cadherins / Protocadherins : Non-clustered 8656 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 119 300246 protocadherin 11 PCDH11 NA 10644456 Standard NM_032969 NM_001168360 NA Approved PCDH-X, PCDHX, PPP1R119 uc004efm.2 Q9BZA7 OTTHUMG00000021965 ENST00000373094.1:c.3033+13455A>G chrX.hg19:g.91147727A>G NA A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5 hg19 CCDS14461.1 0.02 1.777976 GGAxTCT COVERED NOVEL PCDH11X-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000057436.1 25 3.869849 KEEP 0 2 72 38 1103 AA 1 0.999317 0 + 6 60 200 1 0 14.177604 59 60 1651 207 ENST00000373094.1 0.092308 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 93959356 93959356 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:93959356C>A NA NA Y_RNA (526251 upstream) : AL591708.1 (189143 downstream) NA NA NA ggggtttgttctctggcaggc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.93959356C>A NA hg19 0.02 -0.105254 GTTxTCT UNCOVERED NOVEL 0 1 2.407613 KEEP 16 0 0 8 281 CC 0 0 0 3 24 87 0 0 7.201085 9 40 285 46 0.25 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 97453412 97453412 __UNKNOWN__ IGR SNP G G C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:97453412G>C NA NA DIAPH2-AS1 (555824 upstream) : None (None downstream) NA NA NA cAcagtggtgggatctcggct 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.97453412G>C NA hg19 0.02 -0.12281 GTGxGAT COVERED NOVEL 0 2 2.708782 KEEP 0 0 0 9 312 GG 0.99254 0.194847 0 3 60 107 0 0 8.972637 11 60 370 34 0.214286 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 100566169 100566169 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:100566169T>C NA NA TAF7L (18110 upstream) : RNU6-934P (14222 downstream) NA NA NA ccaccatgcctggctaatttt 0.517 NA t||| 3 0.000794702 0.0015 0.0014 3775 , , NA 11800 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.100566169T>C NA hg19 0.02 -0.04385 GCCxGGC UNCOVERED NOVEL 0 5 2.708449 KEEP 3 0 0 9 291 TT 0.99257 0.023895 0 2 40 67 0 0 6.824964 1 52 28 19 0.666667 0.024074 TCEAL7 56849 __UNKNOWN__ __UNKNOWN__ X 102586835 102586835 __UNKNOWN__ 3'UTR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:102586835G>A ENST00000332431.4 + 0 758 TCEAL7_ENST00000372666.1_3'UTR NM_152278.3 NP_689491.1 Q9BRU2 TCAL7_HUMAN transcription elongation factor A (SII)-like 7 NA NA negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) endometrium(1)|upper_aerodigestive_tract(1) 2 CATTTGcatggaaaaatgctc 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC016786 CCDS14506.1 Xq22.1 2014-03-21 ENSG00000182916 ENSG00000182916 56849 28336 protein-coding gene gene with protein product 300771 NA 14702039, 16221301 Standard NM_152278 NM_152278 NA Approved MGC23947, WEX5 uc004ekc.2 Q9BRU2 OTTHUMG00000022096 ENST00000332431.4:c.*201G>A chrX.hg19:g.102586835G>A NA B3KSV2|Q96AT4 hg19 CCDS14506.1 0.02 -0.157903 ATGxAAA COVERED NOVEL TCEAL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057704.1 1 5.717842 KEEP 0 0 0 19 628 GG 0.99986 0.322761 0 + 3 60 96 0 0 7.509982 15 60 501 51 ENST00000332431.4 0.166667 0.322807 TCEAL3 85012 __UNKNOWN__ __UNKNOWN__ X 102880485 102880485 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:102880485T>C ENST00000477014.1 + 4 373 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 tcccaaagtgttgggattaca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008703 CCDS14511.1 Xq22.2 2014-03-21 ENSG00000196507 ENSG00000196507 85012 28247 protein-coding gene gene with protein product NA 16221301 Standard NM_032926 NM_032926 NA Approved MGC15737, WEX8 uc004ekr.3 Q969E4 OTTHUMG00000022106 ENST00000477014.1:c.373+122T>C chrX.hg19:g.102880485T>C NA D3DXA4 hg19 0.02 -0.122805 GTGxTGG COVERED NOVEL TCEAL3-003 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000057738.1 6 2.40713 KEEP 0 0 0 8 251 TT 0.99257 0.194853 0 + 3 60 103 0 0 8.801119 9 60 277 29 ENST00000477014.1 0.25 0.196312 COL4A6 1288 __UNKNOWN__ __UNKNOWN__ X 107464312 107464312 __UNKNOWN__ Intron SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:107464312G>A ENST00000334504.7 - 4 513 COL4A6_ENST00000394872.2_Missense_Mutation_p.P107S|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000372216.4_Intron NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 NA NA cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix structural constituent (GO:0005201) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 tgggcaacagggcgagactct 0.488 NA Alport syndrome with Diffuse Leiomyomatosis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(87;1895 1945 2589 7165) NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database U04845 CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1 Xq22 2014-09-17 ENSG00000197565 ENSG00000197565 1288 Collagens 2208 protein-coding gene gene with protein product 303631 NA 8356449 Standard NM_033641 NA Approved uc004env.4 Q14031 OTTHUMG00000022179 ENST00000334504.7:c.279+157C>T chrX.hg19:g.107464312G>A NA Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4 hg19 CCDS14542.1 0.02 -0.323974 CAGxGCG COVERED . . . . . . . . . . g 1.201 -0.632392 0.03584 . . ENSG00000197565 ENST00000394872 D 0.98649 -5.05 0.207 0.207 0.15214 . 7.921780 0.00465 N 0.000100 D 0.96959 0.9007 . . . 0.09310 N 1 . . . . . . D 0.93188 0.6580 6 0.44086 T 0.13 . . . . . . . . S 107 ENSP00000378340:P107S ENSP00000378340:P107S P - 1 0 COL4A6 107350968 . . 0.018000 0.16275 0.016000 0.09150 . . 0.275000 0.22094 0.279000 0.19357 CCT NOVEL COL4A6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057876.2 1 3.544557 KEEP 0 1 26 21 701 GG 0.999879 0.835615 0 - 4 60 114 0 1 8.329844 24 60 749 79 ENST00000334504.7 0.142857 0.835716 TDGF1P3 6998 __UNKNOWN__ __UNKNOWN__ X 109765215 109765215 __UNKNOWN__ RNA SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:109765215A>G ENST00000602699.1 + 0 1676 NR_002718.2 P51864 TDGF3_HUMAN teratocarcinoma-derived growth factor 1 pseudogene 3 NA NA signal transduction (GO:0007165) cell outer membrane (GO:0009279)|plasma membrane (GO:0005886) growth factor activity (GO:0008083) NA acggagtctcactctgtcacc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA M96956 Xq23 2011-06-24 2011-06-24 2011-06-24 ENSG00000225366 ENSG00000225366 6998 11703 pseudogene pseudogene teratocarcinoma-derived growth factor 3, pseudogene TDGF3 NA 1882841 Standard NR_002718 NR_002718 NA Approved TDGF2, CR-3, CRIPTO-3, CRIPTO3 uc004eos.1 P51864 OTTHUMG00000022195 ENST00000602699.1: chrX.hg19:g.109765215A>G NA hg19 0.02 1.857359 CTCxCTC COVERED NOVEL TDGF1P3-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000467333.2 13 18.59999 KEEP 0 2 75 88 2401 AA 1 0.997553 0 + 4 60 135 1 1 8.807683 64 60 1688 213 ENST00000602699.1 0.058824 0.997553 KLHL13 90293 __UNKNOWN__ __UNKNOWN__ X 117049904 117049904 __UNKNOWN__ Intron SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:117049904C>T ENST00000371876.1 - 3 2839 KLHL13_ENST00000262820.3_Intron|KLHL13_ENST00000469946.1_Intron|KLHL13_ENST00000540167.1_Intron|KLHL13_ENST00000541812.1_Intron|KLHL13_ENST00000539496.1_Intron|KLHL13_ENST00000371882.1_Intron|KLHL13_ENST00000545703.1_Intron|KLHL13_ENST00000371878.1_Intron Q9P2N7 KLH13_HUMAN kelch-like family member 13 NA NA cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567) Cul3-RING ubiquitin ligase complex (GO:0031463) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 ggtggatcacctgaggtcagg 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037730 CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1 Xq23-q24 2013-01-30 2013-01-30 2004-02-18 ENSG00000003096 ENSG00000003096 90293 Kelch-like, BTB/POZ domain containing 22931 protein-coding gene gene with protein product 300655 BTB and kelch domain containing 2, KIAA1309, kelch-like 13 (Drosophila) BKLHD2, KIAA1309 NA 10718198 Standard NM_033495 NM_033495 NA Approved FLJ10262 uc011mtp.2 Q9P2N7 OTTHUMG00000022252 ENST00000371876.1:c.417+3579G>A chrX.hg19:g.117049904C>T NA B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9 hg19 0.02 -0.192991 CACxTGA COVERED NOVEL KLHL13-002 KNOWN alternative_5_UTR|basic protein_coding NA protein_coding OTTHUMT00000057995.2 4 2.407913 KEEP 0 0 0 8 291 CC 0.99257 0.454356 0 - 3 60 93 0 0 7.060912 17 60 588 44 ENST00000371876.1 0.15 0.457757 DOCK11 139818 __UNKNOWN__ __UNKNOWN__ X 117676399 117676399 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:117676399A>G ENST00000276202.7 + 2 165 DOCK11_ENST00000276204.6_Intron NM_144658.3 NP_653259.3 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 ctcccaaagtactgggattac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125641 CCDS35373.1 Xq24 2013-10-25 ENSG00000147251 ENSG00000147251 139818 Pleckstrin homology (PH) domain containing 23483 protein-coding gene gene with protein product zizimin2 300681 NA 12432077, 16968698 Standard NM_144658 NM_144658 NA Approved FLJ32122, FLJ43653, ZIZ2, ACG uc004eqp.2 Q5JSL3 OTTHUMG00000022256 ENST00000276202.7:c.103-289A>G chrX.hg19:g.117676399A>G NA A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3 hg19 CCDS35373.1 0.02 -0.306198 AGTxCTG COVERED NOVEL DOCK11-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000356002.1 10 3.00844 KEEP 0 0 0 10 294 AA 0.992708 0.79441 0 + 3 60 107 0 0 7.81271 29 60 783 61 ENST00000276202.7 0.09375 0.800245 IL13RA1 3597 __UNKNOWN__ __UNKNOWN__ X 117926596 117926596 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:117926596A>G ENST00000371666.3 + 0 2130 NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 NA NA cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639) interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886) interleukin-13 receptor activity (GO:0016515) endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 gtgacagagcaagactctgtc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U62858 CCDS14573.1 Xq24 2008-02-05 ENSG00000131724 ENSG00000131724 3597 Interleukins and interleukin receptors, CD molecules 5974 protein-coding gene gene with protein product IL13 receptor alpha-1 chain, CD213a1 antigen 300119 NA 8910586, 9013879 Standard NM_001560 NM_001560 NA Approved IL-13Ra, NR4, CD213a1 uc004eqs.3 P78552 OTTHUMG00000022258 ENST00000371666.3:c.*779A>G chrX.hg19:g.117926596A>G NA O95646|Q5JSL4|Q99656|Q9UDY5 hg19 CCDS14573.1 0.02 1.827319 AGCxAGA COVERED NOVEL IL13RA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058009.1 10 7.221498 KEEP 1 0 0 24 748 AA 0.999909 0.992836 0 + 5 60 164 1 0 11.871627 42 60 1233 119 ENST00000371666.3 0.106383 0.992926 SLC25A43 203427 __UNKNOWN__ __UNKNOWN__ X 118533495 118533495 __UNKNOWN__ Silent SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:118533495C>T ENST00000217909.7 + 1 473 c.129C>T c.(127-129)ggC>ggT p.G43G SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Silent_p.G43G NM_145305.2 NP_660348.2 Q8WUT9 S2543_HUMAN solute carrier family 25, member 43 43 NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 9 CCCAGGTTGGCGTCGTGCGAG 0.756 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA NA X NA NA 118533495 961 1800 2761 SO:0001819 synonymous_variant BC019584 CCDS14577.1 Xq24 2013-05-22 ENSG00000077713 ENSG00000077713 203427 Solute carriers 30557 protein-coding gene gene with protein product 300641 NA 16949250 Standard NM_145305 NM_145305 NA Approved uc004erd.3 Q8WUT9 OTTHUMG00000022272 ENST00000217909.7:c.129C>T chrX.hg19:g.118533495C>T NA O75854|Q8N9L5 hg19 CCDS14577.1 0.02 1.28744 TGGxGTC COVERED NOVEL SLC25A43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058028.1 0 8.123357 KEEP 0 0 0 27 834 CC 0.999988 0.99622 0 + 20 60 542 0 0 46.165351 46 60 1441 129 ENST00000217909.7 0.30303 0.996233 CXorf56 63932 __UNKNOWN__ __UNKNOWN__ X 118672691 118672691 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:118672691A>G ENST00000320339.4 - 0 1792 CXorf56_ENST00000371594.4_3'UTR|CXorf56_ENST00000536133.1_3'UTR NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 NA NA cervix(1)|endometrium(2)|lung(7) 10 gagccaccgtacccggccACC 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026618 CCDS55484.1, CCDS55485.1 Xq24 2008-02-05 ENSG00000018610 ENSG00000018610 63932 26239 protein-coding gene gene with protein product NA 12477932 Standard NM_022101 NM_022101 NA Approved FLJ22965 uc004erk.2 Q9H5V9 OTTHUMG00000022276 ENST00000320339.4:c.*999T>C chrX.hg19:g.118672691A>G NA A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351 hg19 CCDS55484.1 0.02 1.6872 CGTxCCC COVERED NOVEL CXorf56-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000058042.3 20 8.854282 KEEP 0 1 39 43 1254 AA 1 0.999218 0 - 4 60 142 0 0 9.330294 71 60 1938 163 ENST00000320339.4 0.053333 0.999218 UBE2A 7319 __UNKNOWN__ __UNKNOWN__ X 118718042 118718042 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:118718042T>A ENST00000371558.2 + 0 1457 UBE2A_ENST00000371569.5_3'UTR NM_001282161.1|NM_003336.2|NM_181762.1 NP_001269090.1|NP_003327.2|NP_861427.1 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511) chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842) haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 TGTCCATCTTTATTTTAGAGT 0.358 NA Rad6 pathway NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK223045 CCDS14580.1, CCDS14581.1 Xq24 2011-05-19 2011-05-19 ENSG00000077721 ENSG00000077721 7319 Ubiquitin-conjugating enzymes E2 12472 protein-coding gene gene with protein product 312180 ubiquitin-conjugating enzyme E2A (RAD6 homolog) NA 1559696 Standard NM_003336 NM_003336 NA Approved UBC2, HHR6A, RAD6A uc004erl.3 P49459 OTTHUMG00000022275 ENST00000371558.2:c.*824T>A chrX.hg19:g.118718042T>A NA A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4 hg19 CCDS14580.1 0.02 -0.289288 CTTxATT COVERED NOVEL UBE2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058036.1 2 6.016469 KEEP 0 0 0 20 580 TT 0.999863 0.760782 0 + 13 60 330 0 0 29.586317 20 60 560 68 ENST00000371558.2 0.393939 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 118965326 118965326 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:118965326T>C NA NA RPL39 (39720 upstream) : UPF3B (2658 downstream) NA NA NA actttgttgctcaggctggag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.118965326T>C NA hg19 0.02 1.736507 TGCxCAG COVERED NOVEL 0 6 10.230408 KEEP 0 0 0 34 1080 TT 0.999998 0.992092 0 5 60 161 1 0 11.297641 48 60 1431 124 0.09434 0.992094 XIAP 331 __UNKNOWN__ __UNKNOWN__ X 123034596 123034596 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:123034596A>G ENST00000371199.3 + 6 1599 XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Intron|XIAP_ENST00000434753.3_Intron NM_001167.3 NP_001158.2 P98170 XIAP_HUMAN X-linked inhibitor of apoptosis NA NA apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234) cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3) 25 ggtggctcatacctgtaatcc 0.418 NA X-linked Lymphoproliferative syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2 U45880 CCDS14606.1 Xq25 2014-09-17 2008-03-04 2008-03-04 ENSG00000101966 ENSG00000101966 331 Baculoviral IAP repeat containing 592 protein-coding gene gene with protein product 300079 baculoviral IAP repeat-containing 4 API3, BIRC4 NA 8552191, 8654366 Standard NM_001167 NM_001167 NA Approved hILP uc010nqu.3 P98170 OTTHUMG00000022336 ENST00000371199.3:c.1300+53A>G chrX.hg19:g.123034596A>G NA D3DTF2|Q9NQ14 hg19 CCDS14606.1 0.02 -0.271779 CATxCCT COVERED NOVEL XIAP-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058165.5 4 4.810952 KEEP 0 0 0 16 443 AA 0.997832 0.71576 0 + 3 60 105 0 0 7.697882 27 60 725 58 ENST00000371199.3 0.1 0.717315 STAG2 10735 __UNKNOWN__ __UNKNOWN__ X 123212007 123212007 __UNKNOWN__ Intron SNP A A C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:123212007A>C ENST00000218089.9 + 27 3285 STAG2_ENST00000371157.3_Intron|STAG2_ENST00000371144.3_Intron|STAG2_ENST00000371145.3_Intron|STAG2_ENST00000354548.5_Intron|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371160.1_Intron NM_001042749.1 NP_001036214.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 NA NA meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827) actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) chromatin binding (GO:0003682) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GCAATAGGCAATTTATAAAAG 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z75331 CCDS14607.1, CCDS43990.1 Xq25 2014-09-17 ENSG00000101972 ENSG00000101972 10735 11355 protein-coding gene gene with protein product 300826 NA 9305759 Standard NM_006603 NM_001042750 NA Approved SA-2, SCC3B uc004eua.3 Q8N3U4 OTTHUMG00000022725 ENST00000218089.9:c.2775+99A>C chrX.hg19:g.123212007A>C NA B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8 hg19 CCDS43990.1 0.02 -0.105258 GCAxTTT UNCOVERED NOVEL STAG2-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000106726.2 0 2.406399 KEEP 0 0 0 8 237 AA 0.99257 0.138793 0 + 6 60 214 0 0 20.651039 6 60 176 25 ENST00000218089.9 0.5 0.139832 XPNPEP2 7512 __UNKNOWN__ __UNKNOWN__ X 128885620 128885620 __UNKNOWN__ Intron SNP G G A rs368301669 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:128885620G>A ENST00000371106.3 + 9 931 NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound NA NA anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237) endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 ggaaggaagggaggaaggaaa 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90724 CCDS14613.1 Xq25 2008-02-05 ENSG00000122121 ENSG00000122121 7512 3.4.11.9 12823 protein-coding gene gene with protein product 300145 NA 9375790, 9628831 Standard NM_003399 NM_003399 NA Approved uc004eut.1 O43895 OTTHUMG00000022373 ENST00000371106.3:c.740-101G>A chrX.hg19:g.128885620G>A NA A0AV16|O75994 hg19 CCDS14613.1 0.02 4.502808 AGGxAGG COVERED NOVEL XPNPEP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058210.1 16 5.757542 KEEP 2 2 68 43 1438 GG 1 1 0 + 8 60 243 2 2 14.169689 160 60 5196 321 ENST00000371106.3 0.047619 1 UTP14A 10813 __UNKNOWN__ __UNKNOWN__ X 129049289 129049289 __UNKNOWN__ Intron SNP C C T rs181136646 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:129049289C>T ENST00000394422.3 + 6 565 UTP14A_ENST00000371051.5_Intron|UTP14A_ENST00000425117.2_Intron|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Intron NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 atcacaaggtcaggagatcga 0.502 NA c||| 16 0.00423841 0 0 3775 , , NA 11838 0.004 NA 0 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039694 CCDS14615.1, CCDS55489.1 Xq26.1 2009-01-15 2004-06-01 2004-06-01 ENSG00000156697 ENSG00000156697 10813 10665 protein-coding gene gene with protein product 300508 serologically defined colon cancer antigen 16 SDCCAG16 NA 9610721, 16354793 Standard NM_006649 NM_006649 NA Approved NY-CO-16 uc004euz.3 Q9BVJ6 OTTHUMG00000022378 ENST00000394422.3:c.537+3392C>T chrX.hg19:g.129049289C>T NA A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1 hg19 CCDS14615.1 0.02 -0.175185 GGTxAGG UNCOVERED NOVEL UTP14A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000058221.1 10 2.407941 KEEP 9 0 0 8 289 CC 0 0 0 + 5 60 141 0 0 11.734394 14 60 459 53 ENST00000394422.3 0.263158 0.387407 ELF4 2000 __UNKNOWN__ __UNKNOWN__ X 129206407 129206407 __UNKNOWN__ Intron SNP A A T rs149524254 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:129206407A>T ENST00000308167.5 - 5 720 ELF4_ENST00000335997.7_Intron NM_001421.3 NP_001412.1 E74-like factor 4 (ets domain transcription factor) NA NA breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AAGAAGAAAGACCTGAGGTGG 0.647 NA T ERG AML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes X Xq26 2000 E74-like factor 4 (ets domain transcription factor) L 0 54 51 52 NA NA NA X NA NA 129206407 2203 4300 6503 SO:0001627 intron_variant U32645 CCDS14617.1 Xq26 2014-09-17 ENSG00000102034 ENSG00000102034 2000 3319 protein-coding gene gene with protein product 300775 NA 8895518 Standard NM_001421 NM_001421 NA Approved MEF, ELFR uc004eve.4 Q99607 OTTHUMG00000022390 ENST00000308167.5:c.341-15T>A chrX.hg19:g.129206407A>T NA hg19 CCDS14617.1 0.02 1.3479 AAGxCCT COVERED NOVEL ELF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058243.1 2 18.337985 KEEP 0 0 0 61 1786 AA 1 0.99993 0 - 37 60 1089 0 0 98.959728 58 60 1661 225 ENST00000308167.5 0.389474 0.99993 AIFM1 9131 __UNKNOWN__ __UNKNOWN__ X 129271780 129271780 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:129271780A>G ENST00000287295.3 - 10 1198 AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000319908.3_Intron|AIFM1_ENST00000460436.2_5'UTR|AIFM1_ENST00000440263.1_5'UTR NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510) cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 Flavin adenine dinucleotide(DB03147) actcacacctataatcccagc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100928 CCDS14618.1, CCDS14619.1, CCDS48167.1 Xq26.1 2014-01-30 2006-11-16 2006-11-16 ENSG00000156709 ENSG00000156709 9131 8768 protein-coding gene gene with protein product 300169 programmed cell death 8 (apoptosis-inducing factor), neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome) PDCD8, NAMSD NA 9989411, 23217327 Standard NM_004208 NA Approved AIF, CMTX4 uc004evg.3 O95831 OTTHUMG00000022392 ENST00000287295.3:c.968-620T>C chrX.hg19:g.129271780A>G NA A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4 hg19 CCDS14618.1 0.02 3.610904 CCTxTAA COVERED NOVEL AIFM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058247.2 31 16.883649 KEEP 0 1 34 68 2062 AA 1 1 0 - 5 60 175 0 0 10.940122 111 60 3100 283 ENST00000287295.3 0.043103 1 AIFM1 9131 __UNKNOWN__ __UNKNOWN__ X 129271799 129271799 __UNKNOWN__ Intron SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:129271799T>A ENST00000287295.3 - 10 1198 AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000319908.3_Intron|AIFM1_ENST00000460436.2_5'UTR|AIFM1_ENST00000440263.1_5'UTR NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510) cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 Flavin adenine dinucleotide(DB03147) gcactttgggtggccgaggtg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100928 CCDS14618.1, CCDS14619.1, CCDS48167.1 Xq26.1 2014-01-30 2006-11-16 2006-11-16 ENSG00000156709 ENSG00000156709 9131 8768 protein-coding gene gene with protein product 300169 programmed cell death 8 (apoptosis-inducing factor), neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome) PDCD8, NAMSD NA 9989411, 23217327 Standard NM_004208 NA Approved AIF, CMTX4 uc004evg.3 O95831 OTTHUMG00000022392 ENST00000287295.3:c.968-639A>T chrX.hg19:g.129271799T>A NA A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4 hg19 CCDS14618.1 0.02 1.122861 GGGxGGC COVERED NOVEL AIFM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058247.2 18 9.396736 KEEP 1 2 65 54 1680 TT 1 0.999956 0 - 8 60 241 0 0 16.32613 79 60 2365 192 ENST00000287295.3 0.091954 0.999956 AIFM1 9131 __UNKNOWN__ __UNKNOWN__ X 129273692 129273692 __UNKNOWN__ Intron SNP G G T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:129273692G>T ENST00000287295.3 - 8 1089 AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000319908.3_Intron NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510) cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 Flavin adenine dinucleotide(DB03147) cccaagtcccggGTGGGCACT 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100928 CCDS14618.1, CCDS14619.1, CCDS48167.1 Xq26.1 2014-01-30 2006-11-16 2006-11-16 ENSG00000156709 ENSG00000156709 9131 8768 protein-coding gene gene with protein product 300169 programmed cell death 8 (apoptosis-inducing factor), neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome) PDCD8, NAMSD NA 9989411, 23217327 Standard NM_004208 NA Approved AIF, CMTX4 uc004evg.3 O95831 OTTHUMG00000022392 ENST00000287295.3:c.858+77C>A chrX.hg19:g.129273692G>T NA A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4 hg19 CCDS14618.1 0.02 1.458774 CCCxGGT COVERED NOVEL AIFM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058247.2 0 10.230145 KEEP 0 0 0 34 1119 GG 0.999998 0.997551 0 - 19 60 573 0 0 48.592509 51 60 1642 167 ENST00000287295.3 0.271429 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 130057155 130057155 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:130057155T>C NA NA ENOX2 (19947 upstream) : RP1-23K20.2 (58408 downstream) NA NA NA gacagggtcttgctctgtcac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.130057155T>C NA hg19 0.02 -0.0877 TCTxGCT UNCOVERED NOVEL 0 5 2.405348 KEEP 1 0 0 8 233 TT 0 0 0 3 51 100 0 0 8.943988 6 60 169 27 0.333333 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 133259846 133259846 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:133259846T>C NA NA GPC3 (139924 upstream) : Y_RNA (16411 downstream) NA NA NA cagggtctcattctgttgccc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.133259846T>C NA hg19 0.02 -0.315725 TCAxTCT COVERED NOVEL 0 5 2.406902 KEEP 0 0 0 8 248 TT 0.99257 0.812384 0 4 60 140 0 1 10.616925 29 60 845 56 0.121212 0.818465 FAM122B 159090 __UNKNOWN__ __UNKNOWN__ X 133921409 133921409 __UNKNOWN__ Intron SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:133921409T>C ENST00000370790.1 - 6 1369 FAM122B_ENST00000486347.1_Intron|FAM122B_ENST00000493333.1_Intron|FAM122B_ENST00000343004.5_Intron|FAM122B_ENST00000298090.6_Intron NM_001166599.2|NM_145284.5 NP_001160071.1|NP_660327.2 Q7Z309 F122B_HUMAN family with sequence similarity 122B NA NA breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1) 6 Acute lymphoblastic leukemia(192;0.000127) ggattacaggtgtgagccact 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX538218 CCDS14643.1, CCDS55497.1, CCDS55498.1 Xq26.3 2008-02-05 ENSG00000156504 ENSG00000156504 159090 30490 protein-coding gene gene with protein product NA 12477932 Standard NM_145284 NM_145284 NA Approved DKFZp686L20116, RP11-308B5.5 uc004exq.3 Q7Z309 OTTHUMG00000022461 ENST00000370790.1:c.440+92A>G chrX.hg19:g.133921409T>C NA A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75 hg19 CCDS55497.1 0.02 -0.385732 AGGxGTG COVERED NOVEL FAM122B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000058382.1 7 7.516692 KEEP 1 0 0 25 687 TT 0.999931 0.918107 0 - 3 60 97 0 0 6.576924 35 60 960 81 ENST00000370790.1 0.078947 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 135381825 135381825 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:135381825A>G NA NA MAP7D3 (43184 upstream) : GPR112 (1296 downstream) NA NA NA atgtaccctaaaacttaaagt 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.135381825A>G NA hg19 0.02 -0.403469 CTAxAAC COVERED NOVEL 0 8 3.848022 KEEP 1 1 38 26 846 AA 0.999957 0.934452 0 3 60 103 0 0 7.008094 40 60 1203 110 0.069767 0.934492 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135462766 135462766 __UNKNOWN__ Intron SNP T T C rs803191 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:135462766T>C ENST00000394143.1 + 16 8067 GPR112_ENST00000370652.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Intron NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) cctcctcctcttcttcttctt 0.507 NA -||| 477 0.126358 0.0923 0.0807 3775 , , NA 7446 0.0933 NA 0.0994 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.7777-7133T>C chrX.hg19:g.135462766T>C NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 -0.350784 CTCxTCT COVERED NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 30 3.610228 KEEP 17 0 0 12 368 TT 0.993072 0.871627 0 + 4 60 132 2 2 9.762319 30 60 878 118 ENST00000394143.1 0.117647 0.877708 ARHGEF6 9459 __UNKNOWN__ __UNKNOWN__ X 135767742 135767742 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:135767742A>G ENST00000250617.6 - 12 2598 ARHGEF6_ENST00000370620.1_Intron|ARHGEF6_ENST00000370622.1_Intron|ARHGEF6_ENST00000535227.1_Intron NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) ctccagcctgagtgacagaac 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13631 CCDS14660.1 Xq26 2013-01-10 2002-05-23 ENSG00000129675 ENSG00000129675 9459 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 685 protein-coding gene gene with protein product Rac/Cdc42 guanine exchange factor (GEF) 6, PAK-interacting exchange factor, alpha, rho guanine nucleotide exchange factor 6 300267 mental retardation, X-linked 46 MRX46 NA 7584048, 9659915 Standard NM_004840 NM_004840 NA Approved alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2 uc004fab.3 Q15052 OTTHUMG00000022518 ENST00000250617.6:c.1392+93T>C chrX.hg19:g.135767742A>G NA A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0 hg19 CCDS14660.1 0.02 -0.263096 CTGxGTG COVERED NOVEL ARHGEF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058511.2 4 4.212688 KEEP 3 0 0 14 448 AA 0.994391 0.689777 0 - 4 60 124 0 0 9.463115 22 60 658 50 ENST00000250617.6 0.153846 0.693668 ARHGEF6 9459 __UNKNOWN__ __UNKNOWN__ X 135785961 135785961 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:135785961A>G ENST00000250617.6 - 9 2252 ARHGEF6_ENST00000370620.1_Intron|ARHGEF6_ENST00000370622.1_Intron|ARHGEF6_ENST00000535227.1_Intron NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) gattacaggcatgagccacca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13631 CCDS14660.1 Xq26 2013-01-10 2002-05-23 ENSG00000129675 ENSG00000129675 9459 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 685 protein-coding gene gene with protein product Rac/Cdc42 guanine exchange factor (GEF) 6, PAK-interacting exchange factor, alpha, rho guanine nucleotide exchange factor 6 300267 mental retardation, X-linked 46 MRX46 NA 7584048, 9659915 Standard NM_004840 NM_004840 NA Approved alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2 uc004fab.3 Q15052 OTTHUMG00000022518 ENST00000250617.6:c.1046+3105T>C chrX.hg19:g.135785961A>G NA A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0 hg19 CCDS14660.1 0.02 -0.210483 GGCxTGA COVERED NOVEL ARHGEF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058511.2 9 2.708339 KEEP 8 0 0 9 285 AA 0.99257 0.54878 0 - 4 60 134 0 0 10.694637 19 60 551 61 ENST00000250617.6 0.173913 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 143406379 143406379 __UNKNOWN__ IGR SNP C C T rs187613027 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:143406379C>T NA NA UBE2NL (438024 upstream) : RN7SKP189 (732248 downstream) NA NA NA ccacccgcctcggcctcccaa 0.537 NA C||| 15 0.00397351 0.0098 0.0014 3775 , , NA 11103 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.143406379C>T NA hg19 0.02 -0.166666 CCTxGGC COVERED NOVEL 0 9 2.708711 KEEP 7 0 0 9 309 CC 0.99257 0.351317 0 3 48 89 0 0 6.810407 15 60 490 50 0.166667 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 145557712 145557712 __UNKNOWN__ IGR SNP C C T rs372397609 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:145557712C>T NA NA RNA5SP517 (48622 upstream) : CXorf51B (333589 downstream) NA NA NA tgtgtgtgtgcgtgtgtgtgt 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.145557712C>T NA hg19 0.02 1.278248 GTGxGTG COVERED NOVEL 0 13 6.319598 KEEP 0 0 0 21 698 CC 0.999869 0.997032 0 6 60 177 2 0 11.797918 61 60 1937 121 0.089552 0.997163 AFF2 2334 __UNKNOWN__ __UNKNOWN__ X 148035344 148035344 __UNKNOWN__ Intron SNP G G C rs201614783|rs200709760|rs12011971 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:148035344G>C ENST00000370460.2 + 10 2036 AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370457.5_Intron|AFF2_ENST00000342251.3_Intron NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 NA NA brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380) nuclear speck (GO:0016607) G-quadruplex RNA binding (GO:0002151) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) cacacacacagacacacacac 0.458 NA C||| 493 0.130596 0.3101 0.0403 3775 , , NA 12515 0.003 NA 0.0378 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U48436 CCDS14684.1, CCDS55521.1, CCDS76040.1 Xq28 2008-02-05 2005-06-27 2005-06-27 ENSG00000155966 ENSG00000155966 2334 3776 protein-coding gene gene with protein product 300806 fragile X mental retardation 2 FMR2 NA Standard NM_002025 NM_002025 NA Approved FRAXE uc004fcp.3 P51816 OTTHUMG00000022613 ENST00000370460.2:c.1557+75G>C chrX.hg19:g.148035344G>C NA A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5 hg19 CCDS14684.1 0.02 -0.377182 ACAxACA COVERED NOVEL AFF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000058673.2 3 10.289324 KEEP 0 1 36 47 1430 GG 1 0.918171 0 + 4 60 139 2 1 10.117745 37 60 1173 98 ENST00000370460.2 0.097561 0.918171 TMEM185A 84548 __UNKNOWN__ __UNKNOWN__ X 148713483 148713483 __UNKNOWN__ 5'UTR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:148713483C>T ENST00000316916.8 - 0 85 TMEM185A_ENST00000536359.1_5'UTR NM_032508.2 NP_115897.1 Q8NFB2 T185A_HUMAN transmembrane protein 185A NA NA dendrite (GO:0030425)|integral component of membrane (GO:0016021) kidney(1)|large_intestine(3)|lung(10)|ovary(1) 15 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCCGGGCTTCCGTACGAGGGC 0.756 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF353675 CCDS14689.1, CCDS55523.1, CCDS76041.1 Xq28 2014-01-28 2007-02-05 2007-02-05 ENSG00000155984 ENSG00000269556 84548 17125 protein-coding gene gene with protein product 300031 chromosome X open reading frame 13, family with sequence similarity 11, member A CXorf13, FAM11A NA 12404111 Standard NM_032508 NM_032508 NA Approved uc022cgl.1 Q8NFB2 OTTHUMG00000022625 ENST00000316916.8:c.-220G>A chrX.hg19:g.148713483C>T NA B3KTZ3|Q3SYH1|Q96CW3|Q96KE8 hg19 CCDS14689.1 0.02 2.854636 TTCxGTA COVERED NOVEL TMEM185A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058710.4 0 9.630459 KEEP 0 0 0 32 1081 CC 0.999997 0.999984 0 - 10 60 295 0 0 19.986284 94 60 3028 206 ENST00000316916.8 0.096154 0.999987 MAGEA10 4109 __UNKNOWN__ __UNKNOWN__ X 151302148 151302148 __UNKNOWN__ 3'UTR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:151302148T>A ENST00000370323.4 - 0 2261 RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386 P43363 MAGAA_HUMAN melanoma antigen family A, 10 NA NA nucleus (GO:0005634) endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) tcacacctgttatcccagcac 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14705.1 Xq28 2009-03-13 ENSG00000124260 ENSG00000124260 4109 6797 protein-coding gene gene with protein product MAGE-10 antigen, melanoma-associated antigen 10, cancer/testis antigen family 1, member 10 300343 MAGE10 NA 8575766 Standard NM_021048 NM_001011543 NA Approved MGC10599, CT1.10 uc004ffl.3 P43363 OTTHUMG00000024180 ENST00000370323.4:c.*835A>T chrX.hg19:g.151302148T>A NA hg19 CCDS14705.1 0.02 2.234775 TGTxATC COVERED NOVEL MAGEA10-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060916.3 23 15.044189 KEEP 2 0 0 50 1529 TT 1 1 0 - 7 60 199 0 0 11.262158 130 60 3680 281 ENST00000370323.4 0.051095 1 MAGEA10 4109 __UNKNOWN__ __UNKNOWN__ X 151302183 151302183 __UNKNOWN__ 3'UTR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:151302183T>C ENST00000370323.4 - 0 2226 RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386 P43363 MAGAA_HUMAN melanoma antigen family A, 10 NA NA nucleus (GO:0005634) endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) gcgggcagattacctgaggtc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14705.1 Xq28 2009-03-13 ENSG00000124260 ENSG00000124260 4109 6797 protein-coding gene gene with protein product MAGE-10 antigen, melanoma-associated antigen 10, cancer/testis antigen family 1, member 10 300343 MAGE10 NA 8575766 Standard NM_021048 NM_001011543 NA Approved MGC10599, CT1.10 uc004ffl.3 P43363 OTTHUMG00000024180 ENST00000370323.4:c.*800A>G chrX.hg19:g.151302183T>C NA hg19 CCDS14705.1 0.02 1.711226 GATxACC COVERED NOVEL MAGEA10-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060916.3 9 8.725125 KEEP 2 0 0 29 872 TT 0.999997 0.99996 0 - 5 60 157 0 0 9.525039 93 60 2537 168 ENST00000370323.4 0.05102 0.999962 GABRQ 55879 __UNKNOWN__ __UNKNOWN__ X 151822323 151822323 __UNKNOWN__ 3'UTR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:151822323A>G ENST00000370306.2 + 0 2498 NM_018558.2 NP_061028.3 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta NA NA neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) CCTATAGGAAACTTAGGGAGC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U47334 CCDS14707.1 Xq28 2012-06-22 2012-02-03 ENSG00000147402 ENSG00000268089 55879 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 14454 protein-coding gene gene with protein product GABA(A) receptor, theta 300349 gamma-aminobutyric acid (GABA) receptor, theta NA 10804200, 10449790 Standard NM_018558 NM_018558 NA Approved THETA uc004ffp.1 Q9UN88 OTTHUMG00000022649 ENST00000370306.2:c.*579A>G chrX.hg19:g.151822323A>G NA A6NFN1|Q32MB4|Q9NZK8 hg19 CCDS14707.1 0.02 2.114336 GAAxCTT COVERED NOVEL GABRQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058763.2 2 7.219233 KEEP 0 0 0 24 746 AA 0.999909 0.973877 0 + 23 60 788 0 0 74.022083 30 60 882 109 ENST00000370306.2 0.433962 0.973965 PNMA3 29944 __UNKNOWN__ __UNKNOWN__ X 152228684 152228684 __UNKNOWN__ 3'UTR SNP T T C rs45520141 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:152228684T>C ENST00000370265.4 + 0 3487 PNMA3_ENST00000447306.1_3'UTR NM_001282535.1 NP_001269464.1 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 NA NA positive regulation of apoptotic process (GO:0043065) nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) GCCAGGAACCTCAGGAGGAGG 0.612 NA T||| 154 0.0407947 0.0106 0.0231 3775 , , NA 12590 0.0198 NA 0.0994 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF083116 CCDS35435.2, CCDS65344.1 Xq28 2012-02-09 2012-02-09 ENSG00000183837 ENSG00000183837 29944 Paraneoplastic Ma antigens 18742 protein-coding gene gene with protein product paraneoplastic cancer-testis-brain antigen 300675 paraneoplastic antigen MA3 NA 11558790 Standard NM_013364 NM_013364 NA Approved MA5, MA3, MGC132756, MGC132758 uc004fhc.2 Q9UL41 OTTHUMG00000024195 ENST00000370265.4:c.*1783T>C chrX.hg19:g.152228684T>C NA D3DWT7|Q9H0A4 hg19 0.02 1.696508 ACCxCAG COVERED NOVEL PNMA3-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000060944.2 1 6.153451 KEEP 6 1 36 33 1030 TT 0.999998 0.999108 0 + 7 45 211 0 0 14.31751 72 60 2131 161 ENST00000370265.4 0.088608 0.99911 ABCD1 215 __UNKNOWN__ __UNKNOWN__ X 153009719 153009719 __UNKNOWN__ 3'UTR SNP G G A rs67211405 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:153009719G>A ENST00000218104.3 + 0 3167 U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 NA NA alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760) cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCACAAGAGCCCCAAAGAT 0.647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z21876 CCDS14728.1 Xq28 2012-03-14 ENSG00000101986 ENSG00000101986 215 ATP binding cassette transporters / subfamily D 61 protein-coding gene gene with protein product 300371 ALD NA 8441467, 6795626 Standard NM_000033 NM_000033 NA Approved AMN, ALDP, adrenoleukodystrophy uc004fif.2 P33897 OTTHUMG00000024215 ENST00000218104.3:c.*530G>A chrX.hg19:g.153009719G>A NA Q6GTZ2 hg19 CCDS14728.1 0.02 2.769216 AGAxCCC COVERED NOVEL ABCD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000061041.1 2 2.916086 KEEP 2 3 98 44 1622 GG 1 1 0 + 6 60 178 0 0 10.289264 116 60 3981 252 ENST00000218104.3 0.04918 1 IDH3G 3421 __UNKNOWN__ __UNKNOWN__ X 153054991 153054991 __UNKNOWN__ Intron SNP C C T rs3788803 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:153054991C>T ENST00000217901.5 - 5 543 IDH3G_ENST00000370092.3_Intron|IDH3G_ENST00000427365.2_Intron|IDH3G_ENST00000370093.1_Intron|IDH3G_ENST00000497043.1_Intron NM_004135.3 NP_004126.1 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma NA NA carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1) 17 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) agagcgagaccccatctcaga 0.517 NA T||| 519 0.137483 0.1377 0.0893 3775 , , NA 14347 0.1409 NA 0.0507 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14730.1, CCDS44019.1 Xq28 2008-02-05 ENSG00000067829 ENSG00000067829 3421 1.1.1.41 5386 protein-coding gene gene with protein product 300089 NA 9286695 Standard NM_004135 NA Approved uc004fip.4 P51553 OTTHUMG00000024219 ENST00000217901.5:c.346+175G>A chrX.hg19:g.153054991C>T NA E9PDD5|Q9BUU5 hg19 CCDS14730.1 0.02 1.252574 GACxCCA COVERED NOVEL IDH3G-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000061084.27 3 7.222122 KEEP 0 0 0 24 798 CC 0.999909 0.998375 0 - 5 60 150 0 0 9.920955 55 60 1770 112 ENST00000217901.5 0.083333 0.998465 HCFC1 3054 __UNKNOWN__ __UNKNOWN__ X 153224745 153224745 __UNKNOWN__ Intron SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:153224745A>T ENST00000369984.4 - 9 1949 HCFC1_ENST00000354233.3_Intron|HCFC1_ENST00000310441.7_Intron P51610 HCFC1_HUMAN host cell factor C1 NA NA cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACTGGATCAACAGGAAATCC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 115 123 121 NA NA NA X NA NA 153224745 2069 4161 6230 SO:0001627 intron_variant CCDS44020.1 Xq28 2014-06-12 2014-06-09 ENSG00000172534 ENSG00000172534 3054 4839 protein-coding gene gene with protein product VP16-accessory protein, protein phosphatase 1, regulatory subunit 89 300019 mental retardation, X-linked 3, host cell factor C1 (VP16-accessory protein) HFC1, MRX3 NA 8392914, 23000143 Standard NM_005334 XM_005274664 NA Approved HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89 uc004fjp.3 P51610 OTTHUMG00000024222 ENST00000369984.4:c.1605+36T>A chrX.hg19:g.153224745A>T NA Q6P4G5 hg19 0.02 4.596508 TCAxCAG COVERED NOVEL HCFC1-003 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000061101.3 3 54.768109 KEEP 0 0 0 182 5882 AA 1 1 0 - 46 60 1283 0 0 109.465025 108 60 3194 466 ENST00000369984.4 0.298701 1 GAB3 139716 __UNKNOWN__ __UNKNOWN__ X 153907410 153907410 __UNKNOWN__ Intron SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrX:153907410A>G ENST00000424127.2 - 10 1699 GAB3_ENST00000496390.1_Intron|GAB3_ENST00000369575.3_Intron Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 NA NA macrophage differentiation (GO:0030225) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ctccagcctgagtgacagagt 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY057989 CCDS14760.1, CCDS48198.1, CCDS65357.1 Xq28 2013-01-10 ENSG00000160219 ENSG00000160219 139716 Pleckstrin homology (PH) domain containing 17515 protein-coding gene gene with protein product DOS/Gab family member 3, Gab3 scaffolding protein 300482 NA 11739737 Standard NM_001081573 XM_005274648 NA Approved uc004fmk.1 Q8WWW8 OTTHUMG00000024245 ENST00000424127.2:c.1648-839T>C chrX.hg19:g.153907410A>G NA A6NHF8|E9PB44 hg19 CCDS48198.1 0.02 -0.403407 CTGxGTG COVERED . . . . . . . . . . A 8.095 0.775347 0.16051 . . ENSG00000160219 ENST00000454973 . . . 0.149 0.149 0.14863 . . . . . T 0.30696 0.0773 . . . 0.26201 N 0.979445 . . . . . . T 0.28427 -1.0044 3 . . . . . . . . . . . P 99 . . S - 1 0 GAB3 153560604 0.231000 0.23751 0.546000 0.28166 0.574000 0.36063 0.482000 0.22276 0.152000 0.19188 0.150000 0.16122 TCA NOVEL GAB3-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000377380.1 6 6.620394 KEEP 0 0 0 22 704 AA 0.999879 0.934379 0 - 4 60 140 0 0 10.174071 38 60 1118 91 ENST00000424127.2 0.095238 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 9975247 9975247 __UNKNOWN__ IGR SNP C C T rs147386385 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:9975247C>T NA NA RNA5SP519 (44645 upstream) : AC010970.1 (58733 downstream) NA NA NA ccatgacaggccccagtgtgt 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.9975247C>T NA hg19 0.02 1.456075 AGGxCCC COVERED NOVEL 0 13 4.213145 KEEP 1 0 0 14 491 CC 0.995343 0.989075 0 5 60 150 2 0 11.154963 30 60 971 108 0.142857 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011009 10011009 __UNKNOWN__ IGR SNP T T G rs373963821 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:10011009T>G NA NA RNA5SP519 (80407 upstream) : AC010970.1 (22971 downstream) NA NA NA TAACCTCATTTTTTAAAATAC 0.239 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011009T>G NA hg19 0.02 1.655457 ATTxTTT COVERED NOVEL 0 8 6.3889 KEEP 0 2 74 47 1452 TT 1 0.999919 0 4 60 130 0 0 8.019005 76 60 2059 185 0.05 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011960 10011960 __UNKNOWN__ IGR SNP T T C rs75651145 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:10011960T>C NA NA RNA5SP519 (81358 upstream) : AC010970.1 (22020 downstream) NA NA NA GTAACATAAATGATGTATTGA 0.269 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011960T>C NA hg19 0.02 1.584508 AAAxGAT COVERED NOVEL 0 5 4.378288 KEEP 0 2 64 37 1158 TT 1 0.996233 0 7 60 210 0 0 14.606341 60 60 1751 120 0.104478 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011990 10011990 __UNKNOWN__ IGR SNP T T A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:10011990T>A NA NA RNA5SP519 (81388 upstream) : AC010970.1 (21990 downstream) NA NA NA AGAATCCCTTTTATAAAATCT 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011990T>A NA hg19 0.02 -0.333111 CTTxTAT COVERED NOVEL 0 4 7.221993 KEEP 0 0 0 24 761 TT 0.999909 0.851907 0 4 60 105 0 0 6.913194 33 60 938 75 0.108108 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011992 10011992 __UNKNOWN__ IGR SNP A A G rs78597583 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:10011992A>G NA NA RNA5SP519 (81390 upstream) : AC010970.1 (21988 downstream) NA NA NA AATCCCTTTTATAAAATCTAT 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011992A>G NA hg19 0.02 -0.306777 TTTxTAA COVERED NOVEL 0 4 6.617254 KEEP 0 0 0 22 634 AA 0.999879 0.818365 0 4 60 130 0 0 9.510172 31 60 818 69 0.114286 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10028086 10028086 __UNKNOWN__ IGR SNP G G T rs112967940 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:10028086G>T NA NA RNA5SP519 (97484 upstream) : AC010970.1 (5894 downstream) NA NA NA ACAAACTCATGCCCTAATAGA 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10028086G>T NA hg19 0.02 1.392332 CATxCCC COVERED NOVEL 0 0 5.08314 KEEP 8 2 57 37 1230 GG 1 0.981955 0 5 48 128 0 0 12.170727 5 41 166 104 0.5 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10028116 10028116 __UNKNOWN__ IGR SNP T T C rs112312281 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:10028116T>C NA NA RNA5SP519 (97514 upstream) : AC010970.1 (5864 downstream) NA NA NA TAAGCATAATTTGGATCCACT 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10028116T>C NA hg19 0.02 10.194066 AATxTGG COVERED NOVEL 0 4 24.370613 KEEP 27 3 106 118 3548 TT 1 1 0 6 48 199 0 0 18.380222 9 41 246 620 0.4 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10029205 10029205 __UNKNOWN__ IGR SNP A A G rs78042654 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:10029205A>G NA NA RNA5SP519 (98603 upstream) : AC010970.1 (4775 downstream) NA NA NA AGCTGAATCAATAGAAGACAC 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10029205A>G NA hg19 0.02 -0.262268 TCAxTAG COVERED NOVEL 0 1 3.90966 KEEP 11 0 0 13 381 AA 0.992708 0.68861 0 2 40 69 1 0 7.091401 1 27 7 56 0.666667 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13312622 13312622 __UNKNOWN__ IGR SNP A A G rs77760285 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13312622A>G NA NA None (None upstream) : AC134878.2 (27736 downstream) NA NA NA GTGACCTGGGACAGCCCCTGC 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13312622A>G NA hg19 0.02 -0.324496 GGGxCAG COVERED NOVEL 0 0 2.403982 KEEP 2 0 0 8 246 AA 0.99257 0.829507 0 4 40 128 0 0 9.474864 28 40 826 48 0.125 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13312730 13312730 __UNKNOWN__ IGR SNP G G A rs112983967 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13312730G>A NA NA None (None upstream) : AC134878.2 (27628 downstream) NA NA NA TCGACCCACCGGATCTGGCTC 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13312730G>A NA hg19 0.02 1.157761 ACCxGAT COVERED NOVEL 0 0 2.537548 KEEP 0 1 30 19 619 GG 0.999863 0.999782 0 9 60 272 0 0 18.750853 82 60 2688 170 0.098901 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13325959 13325959 __UNKNOWN__ IGR SNP A A G rs113945199 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13325959A>G NA NA None (None upstream) : AC134878.2 (14399 downstream) NA NA NA gctactcgggaggccaagaca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13325959A>G NA hg19 0.02 -0.201735 GGGxGGC UNCOVERED NOVEL 0 7 2.407634 KEEP 1 0 0 8 265 AA 0 0 0 4 60 136 0 0 11.262635 15 60 450 41 0.210526 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13325963 13325963 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13325963C>T NA NA None (None upstream) : AC134878.2 (14395 downstream) NA NA NA ctcgggaggccaagacaggag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13325963C>T NA hg19 0.02 -0.192963 GGCxAAG COVERED NOVEL 0 7 2.707946 KEEP 1 0 0 9 306 CC 0.99257 0.454356 0 3 60 89 0 0 6.892175 14 60 461 43 0.176471 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13351022 13351022 __UNKNOWN__ IGR SNP T T G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13351022T>G NA NA AC134878.1 (10389 upstream) : SLC9B1P1 (145218 downstream) NA NA NA ctgtctctactaaaaatacca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13351022T>G NA hg19 0.02 -0.289359 TACxAAA COVERED NOVEL 0 13 3.309567 KEEP 5 0 0 11 334 TT 0.993072 0.775649 0 4 39 129 0 0 9.82369 24 60 665 64 0.142857 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13397096 13397096 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13397096G>A NA NA AC134878.1 (56463 upstream) : SLC9B1P1 (99144 downstream) NA NA NA tcacgagtgtggagtctgcaa 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13397096G>A NA hg19 0.02 1.286866 TGTxGAG COVERED NOVEL 0 15 4.213798 KEEP 25 0 0 14 502 GG 0.993072 0.989819 0 5 45 148 0 0 9.71818 55 47 1907 185 0.083333 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13402668 13402668 __UNKNOWN__ IGR SNP G G A rs77645455 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13402668G>A NA NA AC134878.1 (62035 upstream) : SLC9B1P1 (93572 downstream) NA NA NA cttgtgatccgcccaccttgg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13402668G>A NA hg19 0.02 -0.429785 TCCxCCC COVERED NOVEL 0 14 2.708329 KEEP 4 0 0 9 288 GG 0.99254 0.952699 0 10 60 287 0 0 24.094643 27 60 899 83 0.27027 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13433380 13433380 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13433380G>A NA NA AC134878.1 (92747 upstream) : SLC9B1P1 (62860 downstream) NA NA NA agccaagatagagccactgca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13433380G>A NA hg19 0.02 1.155593 ATAxAGC COVERED NOVEL 0 24 6.92275 KEEP 5 0 0 23 832 GG 0.999869 0.999491 0 5 60 150 0 0 9.50864 67 60 2240 168 0.069444 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13445937 13445937 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13445937C>T NA NA AC134878.1 (105304 upstream) : SLC9B1P1 (50303 downstream) NA NA NA aagttaaatacacagagatag 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13445937C>T NA hg19 0.02 1.378033 ATAxACA COVERED NOVEL 0 5 5.116801 KEEP 1 0 0 17 610 CC 0.999366 0.996092 0 6 60 172 0 0 12.340068 40 60 1337 142 0.130435 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13448404 13448404 __UNKNOWN__ IGR SNP C C T rs62610917 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13448404C>T NA NA AC134878.1 (107771 upstream) : SLC9B1P1 (47836 downstream) NA NA NA ctctctgtcacgcaggctgta 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13448404C>T NA hg19 0.02 -0.096483 TCAxGCA UNCOVERED NOVEL 0 4 2.407846 KEEP 2 0 0 8 283 AC 0.99257 0.16126 0 2 60 61 0 0 7.053463 0 0 0 31 1 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13453173 13453173 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13453173C>G NA NA AC134878.1 (112540 upstream) : SLC9B1P1 (43067 downstream) NA NA NA ccattccattccattccattc 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13453173C>G NA hg19 0.02 1.932444 ATTxCAT COVERED NOVEL 0 41 10.306253 KEEP 64 2 74 60 2047 CC 0.999998 0.973963 0 4 52 141 1 2 11.980659 13 54 437 245 0.235294 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13458713 13458713 __UNKNOWN__ IGR SNP C C T rs369703694|rs202167166 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13458713C>T NA NA AC134878.1 (118080 upstream) : SLC9B1P1 (37527 downstream) NA NA NA ctccattccactccattccat 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13458713C>T NA hg19 0.02 1.254246 CCAxTCC COVERED NOVEL 0 63 5.359931 KEEP 55 4 132 64 2344 CC 1 0.999622 0 3 35 91 0 1 8.232497 5 40 169 306 0.375 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13475804 13475804 __UNKNOWN__ IGR SNP A A T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13475804A>T NA NA AC134878.1 (135171 upstream) : SLC9B1P1 (20436 downstream) NA NA NA gaccagagttacatcacctgg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13475804A>T NA hg19 0.02 -0.245517 GTTxCAT COVERED NOVEL 0 7 3.911765 KEEP 8 0 0 13 402 AA 0.994391 0.63775 0 3 43 89 0 0 8.255222 4 60 112 66 0.428571 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13483315 13483315 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13483315C>T NA NA AC134878.1 (142682 upstream) : SLC9B1P1 (12925 downstream) NA NA NA agacaaatcccagaaaattgt 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13483315C>T NA hg19 0.02 -0.394762 TCCxAGA COVERED NOVEL 0 12 6.019272 KEEP 11 0 0 20 700 CG 0.99986 0.941609 0 3 60 90 0 1 7.500944 9 60 303 115 0.25 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13489451 13489451 __UNKNOWN__ IGR SNP A A G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13489451A>G NA NA AC134878.1 (148818 upstream) : SLC9B1P1 (6789 downstream) NA NA NA ACAGCGGAGAACTGCCATTCT 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13489451A>G NA hg19 0.02 -0.411762 AGAxCTG COVERED NOVEL 0 0 3.908559 KEEP 15 0 0 13 390 AA 0.99257 0.941356 0 2 60 73 1 0 6.596236 4 60 109 94 0.333333 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13542699 13542699 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13542699T>C NA NA SLC9B1P1 (17982 upstream) : AC011293.1 (404743 downstream) NA NA NA gaggccgaggtgggtggatca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13542699T>C NA hg19 0.02 -0.131535 AGGxGGG COVERED NOVEL 0 6 2.407127 KEEP 6 0 0 8 247 TT 0.99254 0.227464 0 3 25 95 0 0 8.633438 5 60 129 44 0.375 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13542754 13542754 __UNKNOWN__ IGR SNP C C T rs113805929 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:13542754C>T NA NA SLC9B1P1 (18037 upstream) : AC011293.1 (404688 downstream) NA NA NA cacggtgaaacgccgtctcta 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13542754C>T NA hg19 0.02 -0.201733 AAAxGCC COVERED NOVEL 0 10 3.009163 KEEP 2 0 0 10 320 CC 0.992708 0.486967 0 6 48 181 0 0 16.169267 11 60 340 45 0.352941 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58973942 58973942 __UNKNOWN__ IGR SNP A A T rs202166771 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:58973942A>T NA NA None (None upstream) : SPRY3 (126537 downstream) NA NA NA attccattccattctagtcca 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58973942A>T NA hg19 0.02 -0.131566 TCCxTTC UNCOVERED NOVEL 0 20 3.911051 KEEP 21 0 0 13 389 AA 0 0 0 3 60 93 0 0 9.269477 2 60 62 52 0.6 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58977339 58977339 __UNKNOWN__ IGR SNP A A G rs58304499 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:58977339A>G NA NA None (None upstream) : SPRY3 (123140 downstream) NA NA NA cccactTTTCATTTCAccatt 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58977339A>G NA hg19 0.02 1.549385 TTCxTTT COVERED NOVEL 0 29 6.018136 KEEP 13 0 0 20 621 AA 0.997832 0.996036 0 3 40 99 1 0 8.072256 12 60 358 146 0.2 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58980575 58980575 __UNKNOWN__ IGR SNP C C A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:58980575C>A NA NA None (None upstream) : SPRY3 (119904 downstream) NA NA NA catttcattccattccactcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58980575C>A NA hg19 0.02 -0.122812 TTCxATT COVERED NOVEL 0 10 4.213703 KEEP 11 0 0 14 490 CC 0.99254 0.194847 0 2 53 61 0 0 7.053463 0 0 0 37 1 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58993337 58993337 __UNKNOWN__ IGR SNP C C T LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:58993337C>T NA NA None (None upstream) : SPRY3 (107142 downstream) NA NA NA tttgtctaggctctgcctatg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58993337C>T NA hg19 0.02 -0.394746 AGGxTCT COVERED NOVEL 0 15 3.612047 KEEP 7 0 0 12 453 CC 0.993634 0.920741 0 3 60 90 0 0 6.991811 14 60 488 110 0.176471 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59002101 59002101 __UNKNOWN__ IGR SNP T T C rs144288597 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59002101T>C NA NA None (None upstream) : SPRY3 (98378 downstream) NA NA NA TATTAGAAAATGTGGAGTAAA 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59002101T>C NA hg19 0.02 5.10818 AAAxGTG COVERED NOVEL 0 6 8.208686 KEEP 0 3 102 63 1826 TT 1 1 0 9 60 290 0 0 23.330877 38 60 993 262 0.191489 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59002141 59002141 __UNKNOWN__ IGR SNP A A G rs138733427 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59002141A>G NA NA None (None upstream) : SPRY3 (98338 downstream) NA NA NA ACCTGCACGCATAGGATTGAA 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59002141A>G NA hg19 0.02 11.170728 CGCxTAG COVERED NOVEL 0 12 8.931502 KEEP 2 6 183 94 2980 AA 1 1 0 40 60 1256 2 0 114.80294 63 60 1868 529 0.38835 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59002284 59002284 __UNKNOWN__ IGR SNP C C T rs10436845 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59002284C>T NA NA None (None upstream) : SPRY3 (98195 downstream) NA NA NA GTTTCACAAGCTGTTTGTAAT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59002284C>T NA hg19 0.02 4.648813 AAGxTGT COVERED NOVEL 0 1 6.257081 KEEP 3 4 123 64 2274 CC 1 1 0 6 60 188 0 0 11.762114 96 60 3183 274 0.058824 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59004218 59004218 __UNKNOWN__ IGR SNP T T C rs4040913 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59004218T>C NA NA None (None upstream) : SPRY3 (96261 downstream) NA NA NA attccagcactttgggaggcc 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59004218T>C NA hg19 0.02 1.941302 CACxTTG COVERED NOVEL 0 9 3.309233 KEEP 2 0 0 11 335 TT 0.993072 0.960723 0 4 60 137 0 0 10.057314 34 60 1001 94 0.105263 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59005144 59005144 __UNKNOWN__ IGR SNP G G A rs7892916 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59005144G>A NA NA None (None upstream) : SPRY3 (95335 downstream) NA NA NA GTCATTTTAggccaggcgcgg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59005144G>A NA hg19 0.02 2.830308 TAGxCCA COVERED NOVEL 0 25 2.843957 KEEP 7 1 30 20 723 GG 0.999869 0.999861 0 14 60 400 0 0 30.42082 68 60 2231 198 0.170732 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59005162 59005162 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59005162T>C NA NA None (None upstream) : SPRY3 (95317 downstream) NA NA NA cggtggctcatgcctgtaatc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59005162T>C NA hg19 0.02 3.560728 TCAxGCC COVERED NOVEL 0 25 2.542966 KEEP 3 1 36 21 654 TT 0.999879 0.999876 0 6 60 201 1 0 13.425057 83 60 2426 197 0.067416 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59005198 59005198 __UNKNOWN__ IGR SNP G G A rs4893737 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59005198G>A NA NA None (None upstream) : SPRY3 (95281 downstream) NA NA NA gccaaggcaggcagatcaccC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59005198G>A NA hg19 0.02 1.093928 CAGxCAG COVERED NOVEL 0 24 6.320774 KEEP 0 0 0 21 757 GG 0.999869 0.999731 0 8 60 226 0 0 15.783842 59 60 2018 157 0.119403 0.999862 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59007467 59007467 __UNKNOWN__ IGR SNP C C A rs77629630 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59007467C>A NA NA None (None upstream) : SPRY3 (93012 downstream) NA NA NA gggtctcactctgtcaccccg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59007467C>A NA hg19 0.02 1.293611 ACTxTGT COVERED NOVEL 0 16 3.61172 KEEP 2 0 0 12 424 CC 0.993072 0.975153 0 9 60 240 0 0 18.424227 37 60 1225 97 0.195652 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59007560 59007560 __UNKNOWN__ IGR SNP A A T rs113916989 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59007560A>T NA NA None (None upstream) : SPRY3 (92919 downstream) NA NA NA cctcctgagtagctgggacca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59007560A>T NA hg19 0.02 2.99764 AGTxGCT COVERED NOVEL 0 18 2.743044 KEEP 0 1 34 21 655 AA 0.999879 0.999852 0 8 60 245 0 0 17.79363 57 60 1641 180 0.123077 0.999973 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59008252 59008252 __UNKNOWN__ IGR SNP T T C LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59008252T>C NA NA None (None upstream) : SPRY3 (92227 downstream) NA NA NA ggattacaggtatgagccacc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59008252T>C NA hg19 0.02 -0.306971 AGGxATG COVERED NOVEL 0 18 3.610978 KEEP 7 0 0 12 375 TT 0.993634 0.795151 0 3 60 104 0 0 7.794414 23 60 673 76 0.115385 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59012773 59012773 __UNKNOWN__ IGR SNP A A G rs7893034 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59012773A>G NA NA None (None upstream) : SPRY3 (87706 downstream) NA NA NA cagtattttgagagggcaagg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59012773A>G NA hg19 0.02 -0.228061 TTGxGAG COVERED NOVEL 0 9 2.708297 KEEP 4 0 0 9 284 AA 0.99254 0.578582 0 6 60 199 0 0 18.165786 10 51 312 53 0.375 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59014024 59014024 __UNKNOWN__ IGR SNP A A G rs71222102|rs4503291 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59014024A>G NA NA None (None upstream) : SPRY3 (86455 downstream) NA NA NA cccaggttggagtacagtggc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59014024A>G NA hg19 0.02 1.669417 TGGxGTA COVERED NOVEL 0 25 3.329559 KEEP 1 1 34 23 709 AA 0.999909 0.999317 0 16 60 526 0 0 43.784219 55 60 1621 163 0.225352 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59015792 59015792 __UNKNOWN__ IGR SNP C C T rs3888408 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59015792C>T NA NA None (None upstream) : SPRY3 (84687 downstream) NA NA NA gaggccaaggcaggcagatca 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59015792C>T NA hg19 0.02 1.085344 AGGxAGG COVERED NOVEL 0 16 5.352153 KEEP 2 1 32 29 1036 CC 0.999997 0.999878 0 15 60 413 0 0 33.443197 48 60 1615 182 0.238095 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59019208 59019208 __UNKNOWN__ IGR SNP C C A rs3853223 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59019208C>A NA NA None (None upstream) : SPRY3 (81271 downstream) NA NA NA attagctgggcgtggtggtgg 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59019208C>A NA hg19 0.02 -0.254394 GGGxGTG UNCOVERED NOVEL 0 12 2.708606 KEEP 3 0 0 9 312 CC 0 0 0 3 60 91 0 0 6.606133 21 60 717 54 0.125 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59022211 59022211 __UNKNOWN__ IGR SNP G G A rs9320106 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59022211G>A NA NA None (None upstream) : SPRY3 (78268 downstream) NA NA NA caaggcaggaggtttgcttga 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59022211G>A NA hg19 0.02 -0.28948 GGAxGTT COVERED NOVEL 0 10 2.4079 KEEP 1 0 0 8 289 GG 0.99257 0.755234 0 9 60 279 0 0 24.557814 19 60 643 58 0.321429 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59025630 59025630 __UNKNOWN__ IGR SNP C C G LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59025630C>G NA NA None (None upstream) : SPRY3 (74849 downstream) NA NA NA aatagagatgcggtttcacca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59025630C>G NA hg19 0.02 -0.420332 ATGxGGT COVERED NOVEL 0 14 3.611481 KEEP 2 0 0 12 408 CC 0.993634 0.948414 0 3 27 94 0 0 6.5136 29 60 931 84 0.09375 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59026290 59026290 __UNKNOWN__ IGR SNP G G A LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59026290G>A NA NA None (None upstream) : SPRY3 (74189 downstream) NA NA NA tgcccgcctcggcctcccaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59026290G>A NA hg19 0.02 1.357653 CTCxGCC COVERED NOVEL 0 24 2.407448 KEEP 1 0 0 8 267 GG 0.99257 0.984723 0 4 60 119 2 0 8.079309 38 60 1229 100 0.095238 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59026525 59026525 __UNKNOWN__ IGR SNP G G A rs80343863 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59026525G>A NA NA None (None upstream) : SPRY3 (73954 downstream) NA NA NA agtggttcatgcctgtaatcc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59026525G>A NA hg19 0.02 1.427265 CATxCCT COVERED NOVEL 0 17 4.815951 KEEP 0 0 0 16 590 GG 0.997832 0.968715 0 7 60 197 0 0 14.671773 37 60 1269 98 0.159091 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59026600 59026600 __UNKNOWN__ IGR SNP T T C rs56340433 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59026600T>C NA NA None (None upstream) : SPRY3 (73879 downstream) NA NA NA atttttgttctcttaaaagtt 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59026600T>C NA hg19 0.02 -0.263094 TTCxCTT COVERED NOVEL 0 16 3.009535 KEEP 1 0 0 10 330 TT 0.992708 0.68861 0 3 60 94 0 0 6.849626 22 60 652 44 0.12 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59026664 59026664 __UNKNOWN__ IGR SNP A A G rs79282760 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59026664A>G NA NA None (None upstream) : SPRY3 (73815 downstream) NA NA NA ggataactggaacgtgactgt 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59026664A>G NA hg19 0.02 -0.288948 TGGxACG COVERED NOVEL 0 12 2.707617 KEEP 3 0 0 9 266 AA 0.99254 0.755211 0 3 51 103 0 0 7.645263 24 60 658 58 0.111111 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59026666 59026666 __UNKNOWN__ IGR SNP C C A rs56016620 LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59026666C>A NA NA None (None upstream) : SPRY3 (73813 downstream) NA NA NA ataactggaacgtgactgtga 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59026666C>A NA hg19 0.02 -0.289442 GAAxGTG COVERED NOVEL 0 12 2.708422 KEEP 3 0 0 9 296 CC 0.99254 0.755211 0 6 60 167 0 0 13.464291 20 60 653 58 0.230769 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59032057 59032057 __UNKNOWN__ IGR SNP C C G rs79196953 byFrequency LTS-030_T LTS-030_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-030_1781-2O_T LTS-030_1781-3I_N g.chrY:59032057C>G NA NA None (None upstream) : SPRY3 (68422 downstream) NA NA NA gcttgggcaacaagagcaaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59032057C>G NA hg19 0.02 2.018054 CAAxAAG UNCOVERED NOVEL 0 13 2.408028 KEEP 5 0 0 8 301 CC 0 0 0 6 58 205 0 0 15.512579 42 60 1383 114 0.125 0.993703 PLEKHG5 57449 __UNKNOWN__ __UNKNOWN__ 1 6526668 6526668 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:6526668A>G ENST00000377748.1 - 0 4704 PLEKHG5_ENST00000340850.5_3'UTR|PLEKHG5_ENST00000400913.1_3'UTR NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 NA NA apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) gaccagcctgaccaatatggt 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024676 CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1 1p36.31 2014-09-17 2005-08-09 ENSG00000171680 ENSG00000171680 57449 Pleckstrin homology (PH) domain containing 29105 protein-coding gene gene with protein product synectin-binding guanine exchange factor 611101 NA 17564964 Standard NM_020631 NM_001042663 NA Approved KIAA0720, Syx, GEF720, Tech uc010nzr.1 O94827 OTTHUMG00000000905 ENST00000377748.1:c.*955T>C chr1.hg19:g.6526668A>G NA B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1 hg19 CCDS41240.1 0.02 1.88751 CTGxCCA COVERED NOVEL PLEKHG5-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000002630.1 9 15.337956 KEEP 0 0 0 51 1468 AA 1 0.999218 0 - 4 60 136 0 0 8.781593 69 60 1995 182 ENST00000377748.1 0.054795 0.999218 RERE 473 __UNKNOWN__ __UNKNOWN__ 1 8525994 8525994 __UNKNOWN__ Missense_Mutation SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:8525994C>G ENST00000337907.3 - 12 1828 c.1194G>C c.(1192-1194)gaG>gaC p.E398D RERE_ENST00000377464.1_Missense_Mutation_p.E130D|RERE_ENST00000400907.2_Missense_Mutation_p.E398D|RERE_ENST00000400908.2_Missense_Mutation_p.E398D NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 398 SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}. NA chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) p.E398E(1) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCACTTCGTCCTCGGTCCAGC 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) lung(1) 101 77 85 NA NA 1 NA 8525994 2203 4300 6503 SO:0001583 missense AF016005 CCDS95.1, CCDS41243.1 1p36.23 2013-01-25 ENSG00000142599 ENSG00000142599 473 GATA zinc finger domain containing 9965 protein-coding gene gene with protein product 605226 ATN1L NA 10814707, 10729226 Standard NM_012102 NA Approved KIAA0458, ARP, ARG, DNB1 uc001apf.3 Q9P2R6 OTTHUMG00000001765 ENST00000337907.3:c.1194G>C chr1.hg19:g.8525994C>G ENSP00000338629:p.Glu398Asp NA O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 hg19 CCDS95.1 0.02 7.870717 GTCxTCG COVERED . . . . . . . . . . C 15.65 2.896879 0.52121 . . ENSG00000142599 ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908 T;T;T;T 0.49432 0.78;0.78;0.78;0.78 5.98 1.64 0.23874 SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1); . . . . T 0.27241 0.0668 N 0.25060 0.705 0.58432 D 0.999996 B;B 0.17465 0.022;0.022 B;B 0.14578 0.011;0.011 T 0.06954 -1.0798 9 0.33940 T 0.23 -25.1956 3.2726 0.06887 0.1903:0.3448:0.0:0.4649 . 130;398 B1AKN3;Q9P2R6 .;RERE_HUMAN D 398;130;398;398 ENSP00000338629:E398D;ENSP00000366684:E130D;ENSP00000383699:E398D;ENSP00000383700:E398D ENSP00000338629:E398D E - 3 2 RERE 8448581 0.934000 0.31675 0.979000 0.43373 0.930000 0.56654 0.055000 0.14229 0.450000 0.26774 0.591000 0.81541 GAG NOVEL RERE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004916.1 2 14.68773 KEEP 0 4 129 94 3316 CC 1 1 0 - 13 60 444 0 0 29.090514 210 60 7448 445 ENST00000337907.3 0.058296 1 PIK3CD 5293 __UNKNOWN__ __UNKNOWN__ 1 9788152 9788152 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:9788152C>T ENST00000377346.4 + 0 4378 PIK3CD_ENST00000536656.1_3'UTR NM_005026.3 NP_005017.3 O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta NA NA adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852) cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934) central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) Caffeine(DB00201) catgagccaccgcgcccggcc 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS104.1 1p36.2 2014-09-17 2012-07-13 ENSG00000171608 ENSG00000171608 5293 2.7.1.153 8977 protein-coding gene gene with protein product phosphatidylinositol 3-kinase, catalytic, delta polypeptide, phosphoinositide-3-kinase C 602839 phosphoinositide-3-kinase, catalytic, delta polypeptide NA 9113989, 9455486 Standard NM_005026 NM_005026 NA Approved p110D uc001aqb.4 O00329 OTTHUMG00000001450 ENST00000377346.4:c.*1048C>T chr1.hg19:g.9788152C>T NA A6NCG0|G1FFP1|O15445|Q5SR49 hg19 CCDS104.1 0.02 2.839403 CACxGCG COVERED NOVEL PIK3CD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004235.1 34 19.029408 KEEP 1 2 59 84 2881 CC 1 0.999999 0 + 6 60 173 0 0 10.004969 107 60 3609 288 ENST00000377346.4 0.053097 0.999999 DRAXIN 374946 __UNKNOWN__ __UNKNOWN__ 1 11783929 11783929 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:11783929C>T ENST00000294485.5 + 0 5361 NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein NA NA NA ggattacaggcatgagccagc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY358750 CCDS135.1 1p36.22 2012-08-20 2012-08-14 2012-08-14 ENSG00000162490 ENSG00000162490 374946 25054 protein-coding gene gene with protein product dorsal repulsive axon guidance protein, neural tissue-specific cysteine-rich protein 612682 chromosome 1 open reading frame 187 C1orf187 NA 19150847 Standard NM_198545 NM_198545 NA Approved FLJ34999, Draxin, Neucrin uc001asr.1 Q8NBI3 OTTHUMG00000002227 ENST00000294485.5:c.*4176C>T chr1.hg19:g.11783929C>T NA hg19 CCDS135.1 0.02 -0.263173 AGGxATG COVERED NOVEL DRAXIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006325.1 7 6.320677 KEEP 1 0 0 21 750 CC 0.999869 0.693577 0 + 3 60 90 0 0 6.450398 22 60 752 64 ENST00000294485.5 0.12 0.693668 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15393295 15393295 __UNKNOWN__ Intron SNP G G C rs10803343 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:15393295G>C ENST00000376030.2 + 8 1516 KAZN_ENST00000422387.2_3'UTR|KAZN_ENST00000400798.2_3'UTR|KAZN_ENST00000361144.5_3'UTR NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 TTTTTCTGTTGGTTCTTCTCT 0.507 NA NA C||| 646 0.128994 0.3533 0.0389 5008 , , NA 13886 0.0704 NA 0.008 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.1222+1046G>C chr1.hg19:g.15393295G>C NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 1.70432 GTTxGTT COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 9 9.029012 KEEP 0 0 0 30 1051 GG 0.999997 0.99899 0 + 4 60 133 0 0 8.503767 68 60 2357 156 ENST00000376030.2 0.055556 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16974758 16974758 __UNKNOWN__ IGR SNP G G A rs28484638 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:16974758G>A NA NA CROCCP2 (13704 upstream) : RNU1-3 (18521 downstream) NA NA NA GGCCGGGGCGGGGTCTCGGCC 0.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16974758G>A NA hg19 0.02 -0.315681 GCGxGGT COVERED NOVEL 0 0 4.213803 KEEP 1 0 0 14 500 GG 0.995343 0.814653 0 6 40 148 0 0 10.63132 30 50 1027 68 0.166667 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16974786 16974786 __UNKNOWN__ IGR SNP G G C rs28622547 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:16974786G>C NA NA CROCCP2 (13732 upstream) : RNU1-3 (18493 downstream) NA NA NA TGCCCGCACCGGCCGCAGACT 0.741 NA NA .||| 1058 0.211262 0.3306 0.1182 5008 , , NA 34929 0.2897 NA 0.1431 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16974786G>C NA hg19 0.02 -0.271896 ACCxGCC COVERED NOVEL 0 0 3.611261 KEEP 1 0 0 12 394 GG 0.993072 0.712346 0 5 40 153 0 0 11.739848 26 50 845 54 0.16129 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16976641 16976641 __UNKNOWN__ IGR SNP C C T rs1057417 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:16976641C>T NA NA CROCCP2 (15587 upstream) : RNU1-3 (16638 downstream) NA NA NA AATCCCCAACCGAGTATGCGC 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16976641C>T NA hg19 0.02 7.394404 AACxGAG COVERED NOVEL 0 10 6.770938 KEEP 6 13 403 164 5578 CC 1 1 0 20 49 592 0 0 37.24373 268 50 9096 689 0.069444 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16976649 16976649 __UNKNOWN__ IGR SNP C C T rs1057333 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:16976649C>T NA NA CROCCP2 (15595 upstream) : RNU1-3 (16630 downstream) NA NA NA ACCGAGTATGCGCAAGGTCGC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16976649C>T NA hg19 0.02 8.895852 ATGxGCA COVERED NOVEL 0 10 4.023134 KEEP 4 15 433 166 5697 CC 1 1 0 25 48 720 0 0 46.243106 285 50 9818 721 0.080645 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16978054 16978054 __UNKNOWN__ IGR SNP T T G rs201137396 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:16978054T>G NA NA CROCCP2 (17000 upstream) : RNU1-3 (15225 downstream) NA NA NA CATCTGAGAGTGGGCTTCCTT 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.16978054T>G NA hg19 0.02 10.645966 GAGxGGG COVERED NOVEL 0 30 13.715605 KEEP 41 14 488 216 6458 TT 1 1 0 14 49 502 0 0 32.934183 258 60 7651 771 0.051471 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17010333 17010333 __UNKNOWN__ IGR SNP C C T rs199601116 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:17010333C>T NA NA AL021920.1 (2510 upstream) : ESPNP (7379 downstream) NA NA NA GCTATTCCTACCAGGAACTAT 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.17010333C>T NA hg19 0.02 1.140158 CTAxCAG COVERED NOVEL 0 8 21.36918 KEEP 12 0 0 71 2466 CC 1 0.99994 0 5 50 150 0 0 8.844437 92 51 3163 242 0.051546 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17085791 17085791 __UNKNOWN__ IGR SNP G G A rs2297532 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:17085791G>A NA NA MST1L (424 upstream) : RP11-108M9.1 (92024 downstream) NA NA NA TCTGTACAACGCCGGATCTGG 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.17085791G>A NA hg19 0.02 0.720276 AACxCCG COVERED 124 0.056776556776556776 29 0.05894308943089431 16 0.04419889502762431 48 0.08391608391608392 31 0.040897097625329816 . 15.12 2.737865 0.49045 . . ENSG00000186715 ENST00000389184;ENST00000334998;ENST00000442552 . . . . . . . 0.000000 0.42548 D 0.000696 T 0.09069 0.0224 . . . . . . D 0.89917 1.0 D 0.78314 0.991 T 0.53136 -0.8481 6 0.87932 D 0 . 5.8178 0.18506 0.001:0.0:0.999:0.0 rs2297532;rs3981961;rs3982167;rs9701622;rs57280630 344 Q2TV78-2 . C 334;344;344 . ENSP00000439273:R344C R - 1 0 MST1P9 16958378 1.000000 0.71417 0.000000 0.03702 0.000000 0.00434 6.473000 0.73572 -0.000000 0.14550 0.000000 0.15137 CGT NOVEL 0 2 10.967049 KEEP 16 4 97 71 2385 GG 1 0.999962 0 10 50 259 0 0 16.580058 90 60 2994 265 0.1 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17085795 17085795 __UNKNOWN__ IGR SNP G G T rs1057379 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:17085795G>T NA NA MST1L (428 upstream) : RP11-108M9.1 (92020 downstream) NA NA p.I332I(2)|p.I342I(2) NA TACAACGCCGGATCTGGTAGC 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - coding silent(4) kidney(2)|endometrium(2) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.17085795G>T NA hg19 0.02 2.898411 CCGxATC COVERED NOVEL 0 2 5.375896 KEEP 16 5 151 71 2419 GG 1 0.999968 0 8 47 226 0 0 14.293823 93 60 3149 258 0.079208 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17086183 17086183 __UNKNOWN__ IGR SNP T T G rs61769735 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:17086183T>G NA NA MST1L (816 upstream) : RP11-108M9.1 (91632 downstream) NA NA p.?(2) NA CCTCGGACCCTTAGATGGACC 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Unknown(2) kidney(2) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.17086183T>G NA hg19 0.02 -0.298211 CCCxTAG COVERED . . . . . . . . . . . 6.643 0.487109 0.12641 . . ENSG00000186715 ENST00000389184;ENST00000334998;ENST00000442552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs61769735 . . . . -1 . . . - . . MST1P9 16958770 0.699000 0.27786 0.000000 0.03702 0.000000 0.00434 0.557000 0.23454 0.000000 0.14550 0.000000 0.15137 . NOVEL 0 1 3.911596 KEEP 1 0 0 13 402 TT 0.994391 0.776679 0 4 25 138 0 0 10.361674 30 50 901 83 0.117647 0.78106 ATP13A2 23400 __UNKNOWN__ __UNKNOWN__ 1 17314702 17314702 __UNKNOWN__ Silent SNP C C T rs3738815 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:17314702C>T ENST00000326735.8 - 25 2823 c.2790G>A c.(2788-2790)tcG>tcA p.S930S RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.S886S|ATP13A2_ENST00000452699.1_Silent_p.S925S Q9NQ11 AT132_HUMAN ATPase type 13A2 930 NA cell death (GO:0008219)|cellular response to manganese ion (GO:0071287) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGACGCTGAACGAAGTGTCAA 0.607 NA NA C||| 1457 0.290935 0.1369 0.3429 5008 , , NA 21211 0.5774 NA 0.2058 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 C ,, 659,3747 280.5+/-275.4 56,547,1600 142 127 132 2775,2658,2790 -11 0 1 dbSNP_107 132 1657,6943 305.7+/-307.6 145,1367,2788 no coding-synonymous,coding-synonymous,coding-synonymous ATP13A2 NM_001141973.1,NM_001141974.1,NM_022089.2 ,, 201,1914,4388 TT,TC,CC 19.2674,14.9569,17.8072 ,, 925/1176,886/1159,930/1181 17314702 2316,10690 2203 4300 6503 SO:0001819 synonymous_variant AL354615 CCDS175.1, CCDS44072.1, CCDS44073.1 1p36 2014-09-17 ENSG00000159363 ENSG00000159363 23400 ATPases / P-type, Parkinson disease 30213 protein-coding gene gene with protein product 610513 Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome) PARK9 NA 15381061, 16964263 Standard NM_022089 XM_005245809 NA Approved HSA9947, CLN12 uc001baa.2 Q9NQ11 OTTHUMG00000002293 ENST00000326735.8:c.2790G>A chr1.hg19:g.17314702C>T NA O75700|Q5JXY1|Q5JXY2|Q6S9Z9 hg19 CCDS175.1 0.02 2.69659 GAAxGAA COVERED NOVEL ATP13A2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000006617.1 7 25.881942 KEEP 0 0 0 86 2900 CC 1 0.999999 0 - 8 60 235 0 0 14.479832 115 60 3921 302 ENST00000326735.8 0.065041 0.999999 PADI2 11240 __UNKNOWN__ __UNKNOWN__ 1 17409241 17409241 __UNKNOWN__ Intron SNP G G A rs2235925 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:17409241G>A ENST00000375486.4 - 10 1114 PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Intron NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II NA NA chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327) calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CACAAAGGAAGAAGAACGTCT 0.517 NA NA A||| 2394 0.478035 0.5658 0.4164 5008 , , NA 19351 0.5933 NA 0.3211 False NA ,,, NA NA NA 2504 0.4458 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB030176 CCDS177.1 1p35.2-p35.1 2008-02-05 ENSG00000117115 ENSG00000117115 11240 3.5.3.15 Peptidyl arginine deiminases 18341 protein-coding gene gene with protein product 607935 NA 2768262 Standard NM_007365 NA Approved KIAA0994, PDI2 uc001baf.3 Q9Y2J8 OTTHUMG00000002295 ENST00000375486.4:c.1051-94C>T chr1.hg19:g.17409241G>A NA Q96DA7|Q9UPN2 hg19 CCDS177.1 0.02 1.311101 GAAxAAG COVERED NOVEL PADI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006624.1 3 4.514611 KEEP 0 0 0 15 522 GG 0.99649 0.973437 0 - 5 60 133 0 0 8.425691 50 60 1677 86 ENST00000375486.4 0.090909 0.976865 EMC1 23065 __UNKNOWN__ __UNKNOWN__ 1 19566296 19566296 __UNKNOWN__ Intron SNP T T C rs2273046 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:19566296T>C ENST00000477853.1 - 8 997 RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Intron|EMC1_ENST00000375208.3_Intron NM_001271427.1|NM_001271428.1|NM_015047.2 NP_001258356.1|NP_001258357.1|NP_055862.1 Q8N766 EMC1_HUMAN ER membrane protein complex subunit 1 NA NA ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021) NA TAGCAAACCATGTTGCCTGCA 0.468 NA NA T||| 2127 0.42472 0.438 0.4395 5008 , , NA 21200 0.6806 NA 0.2237 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 T 1794,2612 530.3+/-372.9 370,1054,779 73 77 76 -0.4 0 1 dbSNP_100 76 1888,6712 335.8+/-321.6 217,1454,2629 no intron KIAA0090 NM_015047.1 587,2508,3408 CC,CT,TT 21.9535,40.7172,28.31 19566296 3682,9324 2203 4300 6503 SO:0001627 intron_variant CCDS190.1, CCDS59190.1, CCDS59191.1 1p36.13 2012-05-23 2012-05-23 2012-05-23 ENSG00000127463 ENSG00000127463 23065 28957 protein-coding gene gene with protein product NA KIAA0090 KIAA0090 NA 22119785 Standard NM_015047 NM_015047 NA Approved uc001bbo.4 Q8N766 OTTHUMG00000002497 ENST00000477853.1:c.954+15A>G chr1.hg19:g.19566296T>C NA A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8 hg19 CCDS190.1 0.02 1.85679 CCAxGTT COVERED NOVEL EMC1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000007076.2 1 16.845766 KEEP 0 0 0 56 1649 TT 1 0.997553 0 - 4 60 138 0 0 9.003164 68 60 2015 175 ENST00000477853.1 0.055556 0.997553 DDOST 1650 __UNKNOWN__ __UNKNOWN__ 1 20978598 20978598 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:20978598A>G ENST00000602624.2 - 0 1634 PINK1-AS_ENST00000451424.1_RNA|DDOST_ENST00000375048.3_3'UTR|DDOST_ENST00000415136.2_3'UTR P39656 OST48_HUMAN dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234) dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579) endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) gattacaggcatgagccaccg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D29643 CCDS212.1 1p36.1 2013-03-06 2013-03-06 ENSG00000244038 ENSG00000244038 1650 2.4.1.119 2728 protein-coding gene gene with protein product oligosaccharyltransferase subunit 48 602202 dolichyl-diphosphooligosaccharide-protein glycosyltransferase, dolichyl-diphosphooligosaccharide--protein glycosyltransferase NA 9367678 Standard NM_005216 NM_005216 NA Approved OST, KIAA0115, OST48, WBP1 uc001bdo.1 P39656 OTTHUMG00000002844 ENST00000602624.2:c.*274T>C chr1.hg19:g.20978598A>G NA B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2 hg19 0.02 -0.315755 GGCxTGA COVERED NOVEL DDOST-006 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000467856.2 7 4.212368 KEEP 1 0 0 14 428 AA 0.995343 0.814653 0 - 3 60 103 0 0 7.286835 32 60 965 64 ENST00000602624.2 0.085714 0.818465 NBPF3 84224 __UNKNOWN__ __UNKNOWN__ 1 21809750 21809750 __UNKNOWN__ Silent SNP T T C rs202069483 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:21809750T>C ENST00000318220.6 + 18 2653 c.1605T>C c.(1603-1605)taT>taC p.Y535Y NBPF3_ENST00000454000.2_Silent_p.Y521Y|NBPF3_ENST00000342104.5_Silent_p.Y579Y|NBPF3_ENST00000318249.5_Silent_p.Y591Y Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 591 NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCCAGCAGTATAGAAGTGCCT 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 118 69 85 NA NA 1 NA 21809750 2143 4180 6323 SO:0001819 synonymous_variant BC024011 CCDS216.1, CCDS57976.1, CCDS57977.1 1p36.12 2013-01-17 ENSG00000142794 ENSG00000142794 84224 neuroblastoma breakpoint family 25076 protein-coding gene gene with protein product 612992 NA 11230166, 16079250 Standard NM_032264 NM_032264 NA Approved AE2 uc001ber.4 Q9H094 OTTHUMG00000002944 ENST00000318220.6:c.1605T>C chr1.hg19:g.21809750T>C NA A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96 hg19 0.02 1.935733 GTAxAGA COVERED NOVEL NBPF3-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000008190.2 6 6.619093 KEEP 2 0 0 22 662 TT 0.999879 0.991974 0 + 5 39 171 0 0 11.941241 57 50 1671 118 ENST00000318220.6 0.080645 0.992094 RAP1GAP 5909 __UNKNOWN__ __UNKNOWN__ 1 21929360 21929360 __UNKNOWN__ Missense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:21929360G>A ENST00000374765.4 - 19 1675 c.1475C>T c.(1474-1476)cCg>cTg p.P492L RAP1GAP_ENST00000374763.2_Missense_Mutation_p.P577L|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.P518L|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.P523L|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.P556L NM_002885.2 NP_002876.2 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 492 NA GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165) cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GGAGCCGAACGGGCCCGACTT 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 61 64 NA NA 1 NA 21929360 2203 4300 6503 SO:0001583 missense BC054490 CCDS218.1, CCDS53276.1, CCDS53277.1 1p36.1-p35 2009-09-14 2006-04-12 2006-04-12 ENSG00000076864 ENSG00000076864 5909 9858 protein-coding gene gene with protein product 600278 RAP1, GTPase activating protein 1 RAP1GA1 NA 1904317 Standard NM_002885 NM_001145657 NA Approved KIAA0474, RAP1GAP1, RAP1GAPII uc001bew.3 P47736 OTTHUMG00000007513 ENST00000374765.4:c.1475C>T chr1.hg19:g.21929360G>A ENSP00000363897:p.Pro492Leu NA J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51 hg19 CCDS218.1 0.02 1.386013 AACxGGC COVERED . . . . . . . . . . G 25.5 4.649505 0.87958 . . ENSG00000076864 ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758 D;D;D;D 0.88896 -2.36;-2.36;-2.44;-2.36 5.08 5.08 0.68730 . 0.135077 0.49305 N 0.000141 D 0.87168 0.6110 N 0.25485 0.75 0.58432 D 0.999995 D;D;B;D 0.58970 0.984;0.957;0.024;0.957 P;B;B;B 0.51355 0.667;0.357;0.014;0.357 D 0.87981 0.2743 10 0.48119 T 0.1 -16.5732 15.9511 0.79840 0.0:0.0:1.0:0.0 . 518;492;522;492 P47736-2;P47736;P47736-3;Q7Z5S8 .;RPGP1_HUMAN;.;. L 556;523;518;492;522;577 ENSP00000290101:P556L;ENSP00000363893:P523L;ENSP00000441661:P518L;ENSP00000363897:P492L ENSP00000290101:P556L P - 2 0 RAP1GAP 21801947 1.000000 0.71417 0.894000 0.35097 0.953000 0.61014 5.645000 0.67909 2.363000 0.80096 0.561000 0.74099 CCG NOVEL RAP1GAP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000019759.2 2 9.562202 KEEP 0 1 32 43 1414 GG 1 0.996233 0 - 4 60 126 0 0 7.907911 64 60 2098 172 ENST00000374765.4 0.058824 0.996233 MDS2 259283 __UNKNOWN__ __UNKNOWN__ 1 23955089 23955089 __UNKNOWN__ Splice_Site SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:23955089T>C ENST00000374555.3 + 3 513 c.e3+2 MDS2_ENST00000477916.1_Splice_Site Q8NDY4 MDS2_HUMAN myelodysplastic syndrome 2 translocation associated NA NA extracellular space (GO:0005615) breast(1)|ovary(2) 3 ggattacaggtgtgagccacc 0.493 NA NA T ETV6 MDS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1p36 259283 myelodysplastic syndrome 2 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001630 splice_region_variant AJ310434 1p36 2008-02-05 ENSG00000197880 ENSG00000197880 259283 29633 protein-coding gene gene with protein product 607305 NA 12203785 Standard NM_148895 NR_027042 NA Approved uc001bhi.3 Q8NDY4 OTTHUMG00000002927 ENST00000374555.3:c.-75+2T>C chr1.hg19:g.23955089T>C NA hg19 0.02 3.786194 AGGxGTG COVERED NOVEL MDS2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000008172.1 35 4.94653 KEEP 1 4 136 64 1893 TT 1 0.999997 0 Intron + 5 60 176 0 0 11.197831 103 60 3067 268 ENST00000374555.3 0.046296 0.999997 SRSF10 10772 __UNKNOWN__ __UNKNOWN__ 1 24292854 24292854 __UNKNOWN__ 3'UTR SNP T T C rs55992515 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:24292854T>C ENST00000344989.6 - 0 1926 O75494 SRS10_HUMAN serine/arginine-rich splicing factor 10 NA NA cytoplasmic transport (GO:0016482)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal tri-snRNP complex assembly (GO:0000244) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082) NA GCAAAAAAGATGACAAAAATC 0.244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047448 CCDS30629.1, CCDS30630.1, CCDS53280.1, CCDS53281.1, CCDS53282.1, CCDS53283.1, CCDS72728.1 1p36.11 2014-06-13 2010-06-22 2010-06-22 ENSG00000188529 ENSG00000188529 10772 Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing 16713 protein-coding gene gene with protein product splicing factor, arginine/serine-rich 13, SR splicing factor 10, protein phosphatase 1, regulatory subunit 149 605221 FUS-interacting protein (serine-arginine rich) 2, FUS interacting protein (serine/arginine-rich) 1, splicing factor, arginine/serine-rich 13A, neural-salient SR protein FUSIP2, FUSIP1, SFRS13A NA 11891055, 20516191 Standard NM_006625 XM_006710298 NA Approved TASR1, TASR2, SRp38, SRrp40, SFRS13, PPP1R149 uc021oir.1 O75494 OTTHUMG00000013893 ENST00000344989.6:c.*1299A>G chr1.hg19:g.24292854T>C NA A6NFM6|A6NI42|A6NIU7|B4DJP9|O60572|Q5JRH9|Q5JRI0|Q5JRI2|Q5JRI3|Q5JRI4|Q96G09|Q96P17 hg19 CCDS30629.1 0.02 1.584441 AGAxGAC COVERED NOVEL SRSF10-002 KNOWN non_canonical_U12|basic|CCDS protein_coding NA protein_coding OTTHUMT00000038951.2 2 6.619483 KEEP 0 0 0 22 683 TT 0.999879 0.996112 0 - 5 60 158 0 0 10.434346 63 60 1886 121 ENST00000344989.6 0.073529 0.996233 IFNLR1 163702 __UNKNOWN__ __UNKNOWN__ 1 24480905 24480905 __UNKNOWN__ 3'UTR SNP C C T rs10903034 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:24480905C>T ENST00000327535.1 - 0 4290 NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 Q8IU57 INLR1_HUMAN interferon, lambda receptor 1 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342) integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002) NA CTGCTGtgcacgtgaaagggc 0.478 NA NA T||| 2421 0.483427 0.5295 0.5836 5008 , , NA 15037 0.2837 NA 0.5726 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY129153 CCDS248.1, CCDS249.1, CCDS250.1 1p36.11 2012-11-27 2012-11-26 2012-11-26 ENSG00000185436 ENSG00000185436 163702 Interferons 18584 protein-coding gene gene with protein product interferon lambda receptor 1 607404 interleukin 28 receptor, alpha, interleukin 28 receptor, alpha (interferon, lambda receptor) IL28RA NA Standard NM_170743 NM_173064 NA Approved CRF2/12, IFNLR, IL-28R1 uc001bis.3 Q8IU57 OTTHUMG00000003036 ENST00000327535.1:c.*2715G>A chr1.hg19:g.24480905C>T NA Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8 hg19 CCDS248.1 0.02 -0.438611 GCAxGTG COVERED NOVEL IFNLR1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000008402.1 4 6.753846 KEEP 0 1 30 33 1050 CC 0.999998 0.959857 0 - 5 60 148 0 0 10.17804 44 60 1479 100 ENST00000327535.1 0.102041 0.959859 IFNLR1 163702 __UNKNOWN__ __UNKNOWN__ 1 24481828 24481828 __UNKNOWN__ 3'UTR SNP G G A rs55733257 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:24481828G>A ENST00000327535.1 - 0 3367 NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 Q8IU57 INLR1_HUMAN interferon, lambda receptor 1 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342) integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002) NA TGCAGAGATCGAAGCTCTTAC 0.547 NA NA G||| 2286 0.45647 0.5151 0.5807 5008 , , NA 20753 0.1825 NA 0.5726 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY129153 CCDS248.1, CCDS249.1, CCDS250.1 1p36.11 2012-11-27 2012-11-26 2012-11-26 ENSG00000185436 ENSG00000185436 163702 Interferons 18584 protein-coding gene gene with protein product interferon lambda receptor 1 607404 interleukin 28 receptor, alpha, interleukin 28 receptor, alpha (interferon, lambda receptor) IL28RA NA Standard NM_170743 NM_173064 NA Approved CRF2/12, IFNLR, IL-28R1 uc001bis.3 Q8IU57 OTTHUMG00000003036 ENST00000327535.1:c.*1792C>T chr1.hg19:g.24481828G>A NA Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8 hg19 CCDS248.1 0.02 1.193015 ATCxAAG COVERED NOVEL IFNLR1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000008402.1 6 13.240922 KEEP 0 0 0 44 1459 GG 1 0.999862 0 - 9 60 245 0 0 16.065867 82 60 2666 188 ENST00000327535.1 0.098901 0.999862 C1orf63 0 __UNKNOWN__ __UNKNOWN__ 1 25586274 25586274 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:25586274T>C ENST00000450820.2 - 2 146 Q9BUV0 RSRP1_HUMAN NA NA breast(1)|large_intestine(1)|lung(4)|pancreas(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ggattacaggtgtgagccacc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000450820.2:c.825-5846A>G chr1.hg19:g.25586274T>C NA A8K917|Q49AA4|Q5TH71|Q9GZP6 hg19 0.02 1.80147 AGGxGTG COVERED NOVEL C1orf63-021 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000420930.1 18 5.581433 KEEP 19 2 67 42 1211 TT 1 0.995083 0 - 4 45 130 0 0 8.445226 59 50 1676 163 ENST00000450820.2 0.063492 0.995084 LIN28A 79727 __UNKNOWN__ __UNKNOWN__ 1 26754908 26754908 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:26754908T>C ENST00000326279.6 + 0 2703 LIN28A_ENST00000254231.4_3'UTR NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) NA NA germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 CCCACACACATACACATTTCA 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF521099 CCDS280.1 1p35.3 2013-01-09 2010-04-06 2010-04-06 ENSG00000131914 ENSG00000131914 79727 Zinc fingers, CCHC domain containing 15986 protein-coding gene gene with protein product 611043 lin-28 homolog (C. elegans) LIN28 NA 12798299 Standard NM_024674 XM_006710899 NA Approved LIN-28, FLJ12457, ZCCHC1, CSDD1 uc001bmj.3 Q9H9Z2 OTTHUMG00000003550 ENST00000326279.6:c.*1959T>C chr1.hg19:g.26754908T>C NA hg19 CCDS280.1 0.02 5.74223 ACAxACA COVERED NOVEL LIN28A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009891.2 62 34.830472 KEEP 53 4 144 166 4885 TT 1 1 0 + 6 60 205 0 0 12.539963 138 70 3951 475 ENST00000326279.6 0.041667 1 SFN 2810 __UNKNOWN__ __UNKNOWN__ 1 27190857 27190857 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:27190857C>T ENST00000339276.4 + 0 1225 NM_006142.3 NP_006133.1 Q9Y3B8 ORN_HUMAN stratifin NA NA nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117) focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) 3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 9 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) tgtgtgtgtgCGCGCGCGCCA 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC023552 CCDS288.1 1p36.11 2008-02-05 ENSG00000175793 ENSG00000175793 2810 10773 protein-coding gene gene with protein product 14-3-3 sigma 601290 NA 8515476 Standard NM_006142 NM_006142 NA Approved YWHAS uc001bnc.1 P31947 OTTHUMG00000004093 ENST00000339276.4:c.*407C>T chr1.hg19:g.27190857C>T NA B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7 hg19 CCDS288.1 0.02 4.191627 GTGxGCG COVERED NOVEL SFN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011709.1 42 23.608424 KEEP 0 1 30 89 3028 CC 1 1 0 + 8 70 217 2 0 11.498584 167 70 5590 413 ENST00000339276.4 0.045714 1 PTAFR 5724 __UNKNOWN__ __UNKNOWN__ 1 28475373 28475373 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:28475373T>C ENST00000373857.3 - 0 2794 PTAFR_ENST00000539896.1_3'UTR NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor NA NA chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) gctgggattataggcatgagc 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC063000 CCDS318.1 1p35-p34.3 2012-08-20 ENSG00000169403 ENSG00000169403 5724 GPCR / Class A : Platelet-activating factor receptors 9582 protein-coding gene gene with protein product 173393 NA 1322356 Standard NM_000952 NM_001164721 NA Approved uc001bpl.3 P25105 OTTHUMG00000003953 ENST00000373857.3:c.*1131A>G chr1.hg19:g.28475373T>C NA A3KMC8|A8K2H5 hg19 CCDS318.1 0.02 -0.236763 TTAxAGG COVERED NOVEL PTAFR-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011258.1 2 3.910284 KEEP 1 0 0 13 365 TT 0.994391 0.608972 0 - 3 60 100 0 0 7.506177 21 60 600 53 ENST00000373857.3 0.125 0.612407 LAPTM5 7805 __UNKNOWN__ __UNKNOWN__ 1 31205796 31205796 __UNKNOWN__ 3'UTR SNP T T C rs8048 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:31205796T>C ENST00000294507.3 - 0 1742 NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 NA NA transport (GO:0006810) integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764) large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) GAATCCACTGTTATGCAGCCA 0.473 NA NA C||| 3188 0.636581 0.9599 0.6873 5008 , , NA 20301 0.6012 NA 0.4682 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U51240 CCDS337.1 1p34 2009-07-20 2009-07-20 ENSG00000162511 ENSG00000162511 7805 29612 protein-coding gene gene with protein product 601476 lysosomal multispanning membrane protein 5 NA 8661146, 12527926 Standard NM_006762 NM_006762 NA Approved uc001bsc.2 Q13571 OTTHUMG00000003707 ENST00000294507.3:c.*879A>G chr1.hg19:g.31205796T>C NA Q13240|Q14698|Q3KP54 hg19 CCDS337.1 0.02 1.783416 CTGxTAT COVERED NOVEL LAPTM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010463.1 5 12.633138 KEEP 0 0 0 42 1272 TT 1 0.996233 0 - 4 60 136 0 0 8.931967 63 60 1944 141 ENST00000294507.3 0.059701 0.996233 SH3D21 79729 __UNKNOWN__ __UNKNOWN__ 1 36786801 36786801 __UNKNOWN__ 3'UTR SNP A A T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:36786801A>T ENST00000505871.1 + 0 2175 SH3D21_ENST00000426732.2_3'UTR|SH3D21_ENST00000312808.4_3'UTR|SH3D21_ENST00000453908.2_3'UTR|SH3D21_ENST00000474766.1_3'UTR A4FU49 SH321_HUMAN SH3 domain containing 21 NA NA extracellular vesicular exosome (GO:0070062) endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 ACTTTGGGAAACGCGAGAAAG 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056459 CCDS30674.1, CCDS30674.2 1p34.3 2011-02-21 2011-02-21 2011-02-21 ENSG00000214193 ENSG00000214193 79729 26236 protein-coding gene gene with protein product NA chromosome 1 open reading frame 113 C1orf113 NA 12477932 Standard NM_024676 NM_024676 NA Approved FLJ22938 uc010oia.1 A4FU49 OTTHUMG00000007868 ENST00000505871.1:c.*73A>T chr1.hg19:g.36786801A>T NA B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5 hg19 CCDS30674.2 0.02 5.499081 GAAxCGC COVERED NOVEL SH3D21-005 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000359558.1 2 7.108454 KEEP 0 9 274 120 3565 AA 1 1 0 + 21 60 592 0 0 38.505554 215 60 6393 513 ENST00000505871.1 0.088983 1 EPHA10 284656 __UNKNOWN__ __UNKNOWN__ 1 38182135 38182135 __UNKNOWN__ 3'UTR SNP C C T rs900676 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:38182135C>T ENST00000373048.4 - 0 4935 EPHA10_ENST00000446149.2_Intron|EPHA10_ENST00000427468.2_Intron|EPHA10_ENST00000330210.7_Intron|EPHA10_ENST00000540011.1_Intron NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 NA NA ephrin receptor signaling pathway (GO:0048013) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGGGCTCCCCCAACCCTGAC 0.657 NA NA C||| 1363 0.272165 0.1785 0.2839 5008 , , NA 15689 0.4365 NA 0.17 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090974 CCDS425.1, CCDS41305.1 1p34.3 2013-02-11 ENSG00000183317 ENSG00000183317 284656 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 19987 protein-coding gene gene with protein product 611123 NA 12477932 Standard NM_173641 NM_001099439 NA Approved FLJ16103, FLJ33655 uc009vvi.3 Q5JZY3 OTTHUMG00000004325 ENST00000373048.4:c.*1909G>A chr1.hg19:g.38182135C>T NA A4FU89|J3KPB5|Q6NW42 hg19 CCDS41305.1 0.02 2.88057 CCCxCAA COVERED NOVEL EPHA10-003 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000012497.2 5 21.668427 KEEP 0 0 0 72 2516 CC 1 1 0 - 8 60 241 1 0 14.751841 127 60 4457 291 ENST00000373048.4 0.059259 1 MACF1 23499 __UNKNOWN__ __UNKNOWN__ 1 39761574 39761574 __UNKNOWN__ Intron SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:39761574T>G ENST00000372915.3 + 19 2457 MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 NA NA ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATTTCTGTGTTTGTGTGTGTG 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 364 309 327 NA NA 1 NA 39761574 2203 4300 6503 SO:0001627 intron_variant AB007934 CCDS435.1 1p32-p31 2013-01-10 ENSG00000127603 ENSG00000127603 23499 EF-hand domain containing 13664 protein-coding gene gene with protein product actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7 608271 NA 7635207, 10529403 Standard NM_033044 NM_012090 NA Approved KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776 uc031pmc.1 Q9UPN3 OTTHUMG00000007754 ENST00000372915.3:c.2370+20T>G chr1.hg19:g.39761574T>G NA B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9 hg19 0.02 3.812386 TGTxTGT COVERED NOVEL MACF1-028 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000392096.1 16 14.277693 KEEP 0 1 33 59 1849 TT 1 0.999993 0 + 6 60 209 1 0 13.805148 98 60 3009 246 ENST00000372915.3 0.057692 0.999993 HIVEP3 59269 __UNKNOWN__ __UNKNOWN__ 1 41973095 41973095 __UNKNOWN__ 3'UTR SNP A A G rs2810587 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:41973095A>G ENST00000372583.1 - 0 11133 HIVEP3_ENST00000372584.1_3'UTR NM_024503.4 NP_078779.2 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 NA NA positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CAAGGGTGAAAGGCATCGTGG 0.617 NA NA A||| 2639 0.526957 0.1165 0.7608 5008 , , NA 17379 0.4861 NA 0.7435 False NA ,,, NA NA NA 2504 0.7352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF278765 CCDS463.1, CCDS44124.1 1p34 2013-01-08 2001-11-28 ENSG00000127124 ENSG00000127124 59269 Zinc fingers, C2H2-type 13561 protein-coding gene gene with protein product kappabinding protein-1 606649 human immunodeficiency virus type I enhancer-binding protein 3 NA 11161801 Standard NM_024503 NR_038260 NA Approved KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C uc001cha.4 Q5T1R4 OTTHUMG00000006361 ENST00000372583.1:c.*3027T>C chr1.hg19:g.41973095A>G NA A7YY91|Q5T1R5|Q9BZS0|Q9HCL7 hg19 CCDS463.1 0.02 6.346368 GAAxGGC COVERED NOVEL HIVEP3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000016978.1 6 28.282232 KEEP 0 0 0 94 2909 AA 1 1 0 - 6 60 221 0 0 13.6646 166 60 5115 377 ENST00000372583.1 0.034884 1 ATP6V0B 533 __UNKNOWN__ __UNKNOWN__ 1 44443422 44443422 __UNKNOWN__ Intron SNP C C T rs41270397 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:44443422C>T ENST00000472174.2 + 8 984 ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000532642.1_3'UTR|ATP6V0B_ENST00000471859.2_Intron NM_004047.3 NP_004038.1 Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773) hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215) breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) TGAGTTGATTCTTAGTGACTA 0.483 NA NA c||| 88 0.0175719 0.003 0.0245 5008 , , NA 22692 0 NA 0.0527 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000423 CCDS505.1, CCDS41315.1, CCDS72772.1 1p32.3 2010-04-21 2006-01-20 2002-05-10 ENSG00000117410 ENSG00000117410 533 ATPases / V-type 861 protein-coding gene gene with protein product 603717 ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD, ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c'' ATP6F NA 9653649 Standard NM_004047 XM_005270944 NA Approved VMA16, HATPL uc001cld.3 Q99437 OTTHUMG00000008298 ENST00000472174.2:c.592-231C>T chr1.hg19:g.44443422C>T NA D3DPY5|Q6IB32 hg19 CCDS505.1 0.02 1.47326 ATTxTTA COVERED NOVEL ATP6V0B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022854.2 5 6.922367 KEEP 0 0 0 23 797 CC 0.999892 0.999787 0 + 5 60 154 0 0 9.360968 87 60 2976 154 ENST00000472174.2 0.054348 0.999895 TESK2 10420 __UNKNOWN__ __UNKNOWN__ 1 45809944 45809944 __UNKNOWN__ 3'UTR SNP G G T rs77932721 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:45809944G>T ENST00000372086.3 - 0 2684 TESK2_ENST00000341771.6_3'UTR|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_3'UTR NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 NA NA actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) TAAGAGCCATGACCACCACGC 0.398 NA NA G||| 61 0.0121805 8e-04 0.0216 5008 , , NA 20891 0 NA 0.0328 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ132545 CCDS41323.1 1p32 2010-04-27 ENSG00000070759 ENSG00000070759 10420 2.7.12.1 11732 protein-coding gene gene with protein product 604746 NA 10512679 Standard NM_007170 NM_007170 NA Approved uc001cns.1 Q96S53 OTTHUMG00000007680 ENST00000372086.3:c.*568C>A chr1.hg19:g.45809944G>T NA Q5T422|Q5T423|Q8N520|Q9Y3Q6 hg19 CCDS41323.1 0.02 -0.271895 CATxACC COVERED NOVEL TESK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000020523.1 1 4.514214 KEEP 0 0 0 15 510 GG 0.99649 0.714798 0 - 4 60 116 0 0 8.334934 27 60 871 58 ENST00000372086.3 0.129032 0.717315 MKNK1 8569 __UNKNOWN__ __UNKNOWN__ 1 47060630 47060630 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:47060630A>G ENST00000371946.4 - 2 30 MKNK1_ENST00000525888.1_Intron|MKNK1_ENST00000545730.1_Intron|MKNK1_ENST00000428112.2_Intron|MKNK1_ENST00000341183.5_Intron|MKNK1_ENST00000371945.4_Intron NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 NA NA extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651) cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) ctgcactccaacctgggtgac 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB000409 CCDS538.1, CCDS30705.1, CCDS44134.1 1p33 2008-02-05 ENSG00000079277 ENSG00000079277 8569 7110 protein-coding gene gene with protein product 606724 NA 9155018 Standard NM_003684 NM_003684 NA Approved MNK1 uc001cqb.4 Q9BUB5 OTTHUMG00000007983 ENST00000371946.4:c.134-678T>C chr1.hg19:g.47060630A>G NA D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6 hg19 CCDS538.1 0.02 4.044553 CCAxCCT COVERED NOVEL MKNK1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000021897.2 19 3.449504 KEEP 0 4 142 61 1875 AA 1 1 0 - 7 60 259 0 0 17.629622 114 60 3483 264 ENST00000371946.4 0.057851 1 AGBL4 84871 __UNKNOWN__ __UNKNOWN__ 1 49052423 49052423 __UNKNOWN__ Intron SNP T T C rs11579440 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:49052423T>C ENST00000371839.1 - 11 1384 AGBL4_ENST00000334103.7_Intron NM_032785.3 NP_116174.3 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 NA NA C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610) cytosol (GO:0005829) metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) GGAAGCAGAGTAAGATATGGG 0.532 NA NA T||| 993 0.198283 0.2685 0.1081 5008 , , NA 19669 0.3085 NA 0.1561 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027348 CCDS44137.1 1p33 2014-06-23 ENSG00000186094 ENSG00000186094 84871 25892 protein-coding gene gene with protein product cytosolic carboxypeptidase 6 NA NA 21074048 Standard NM_032785 NM_032785 NA Approved FLJ14442, CCP6 uc001cru.2 Q5VU57 OTTHUMG00000007793 ENST00000371839.1:c.1267+252A>G chr1.hg19:g.49052423T>C NA B3KT26|B4DG37 hg19 CCDS44137.1 0.02 1.962235 GAGxAAG COVERED NOVEL AGBL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021346.4 2 11.727014 KEEP 0 0 0 39 1091 TT 1 0.987943 0 - 4 60 142 0 0 9.759743 55 60 1512 127 ENST00000371839.1 0.067797 0.987943 RAB3B 5865 __UNKNOWN__ __UNKNOWN__ 1 52374952 52374952 __UNKNOWN__ 3'UTR SNP A A C rs6698826 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:52374952A>C ENST00000371655.3 - 0 11519 NM_002867.3 NP_002858.2 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family NA NA antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 TCTGAGACGAATACCATCTAT 0.443 NA NA A||| 3058 0.610623 0.354 0.6859 5008 , , NA 20470 0.8909 NA 0.6054 False NA ,,, NA NA NA 2504 0.6207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC005035 CCDS560.1 1p32-p31 2008-02-05 ENSG00000169213 ENSG00000169213 5865 RAB, member RAS oncogene 9778 protein-coding gene gene with protein product 179510 NA Standard NM_002867 NM_002867 NA Approved uc001cth.3 P20337 OTTHUMG00000008627 ENST00000371655.3:c.*10647T>G chr1.hg19:g.52374952A>C NA Q5VUL2|Q9BSI1 hg19 CCDS560.1 0.02 2.10569 CGAxTAC COVERED NOVEL RAB3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023816.1 3 6.617082 KEEP 0 0 0 22 652 AA 0.999879 0.976747 0 - 4 60 143 0 0 10.086714 48 60 1392 103 ENST00000371655.3 0.076923 0.976865 ZCCHC11 23318 __UNKNOWN__ __UNKNOWN__ 1 52991638 52991638 __UNKNOWN__ Silent SNP C C T rs12123698 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:52991638C>T ENST00000257177.4 - 2 459 c.315G>A c.(313-315)ccG>ccA p.P105P ZCCHC11_ENST00000355809.4_Silent_p.P105P|ZCCHC11_ENST00000371544.3_Silent_p.P105P Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 105 NA cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270) NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CGGCTTTCACCGGTGAATTAG 0.403 NA NA C||| 1432 0.285942 0.0151 0.5072 5008 , , NA 18667 0.4306 NA 0.3698 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 C , 338,4068 178.3+/-207.1 19,300,1884 141 140 140 315,315 -11 0 1 dbSNP_120 140 2874,5726 451.4+/-362.6 481,1912,1907 no coding-synonymous,coding-synonymous ZCCHC11 NM_001009881.2,NM_015269.2 , 500,2212,3791 TT,TC,CC 33.4186,7.6714,24.6963 , 105/1646,105/1645 52991638 3212,9794 2203 4300 6503 SO:0001819 synonymous_variant D83776 CCDS30715.1, CCDS30716.1 1p32.3 2014-03-05 ENSG00000134744 ENSG00000134744 23318 Zinc fingers, CCHC domain containing 28981 protein-coding gene gene with protein product TUTase4 613692 NA 8724849, 12239557 Standard XM_038288 NM_015269 NA Approved KIAA0191, PAPD3, TUT4 uc001cty.2 Q5TAX3 OTTHUMG00000008200 ENST00000257177.4:c.315G>A chr1.hg19:g.52991638C>T NA A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3 hg19 CCDS30715.1 0.02 2.378705 CACxGGT COVERED NOVEL ZCCHC11-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000022466.2 5 29.491787 KEEP 0 0 0 98 3279 CC 1 1 0 - 7 60 199 0 0 11.029258 141 60 4697 340 ENST00000257177.4 0.047297 1 TCEANC2 127428 __UNKNOWN__ __UNKNOWN__ 1 54570504 54570504 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:54570504T>C ENST00000498272.1 + 5 1070 AL161915.1_ENST00000391366.1_Missense_Mutation_p.C122R Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) kidney(1)|lung(3)|pancreas(1) 5 cgtgagccactgcgcctggcc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056674 CCDS587.1 1p32.3 2011-01-25 2011-01-25 2011-01-25 ENSG00000116205 ENSG00000116205 127428 26494 protein-coding gene gene with protein product NA chromosome 1 open reading frame 83 C1orf83 NA 12477932 Standard NM_153035 NM_153035 NA Approved FLJ32112 uc001cwt.1 Q96MN5 OTTHUMG00000008434 ENST00000498272.1:c.1071-6221T>C chr1.hg19:g.54570504T>C NA Q5T702|Q8N8N2 hg19 0.02 3.69845 CACxGCG COVERED . . . . . . . . . . T 0.020 -1.434685 0.01108 . . ENSG00000212670 ENST00000391366 T 0.01446 4.88 0.207 -0.414 0.12359 . . . . . T 0.01287 0.0042 . . . 0.09310 N 0.999999 . . . . . . T 0.47995 -0.9073 5 0.25106 T 0.35 . . . . . . . . R 122 ENSP00000375174:C122R ENSP00000375174:C122R C + 1 0 AL161915.1 54343092 . . 0.152000 0.22495 0.040000 0.13550 . . -1.043000 0.03258 -1.118000 0.02043 TGC NOVEL TCEANC2-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000023246.2 19 6.188289 KEEP 0 2 67 44 1370 TT 1 0.999999 0 + 5 60 172 0 0 10.546903 116 60 3528 239 ENST00000498272.1 0.041322 0.999999 MROH7 374977 __UNKNOWN__ __UNKNOWN__ 1 55136314 55136314 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:55136314C>G ENST00000421030.2 + 6 1754 MROH7-TTC4_ENST00000414150.2_Intron|MROH7_ENST00000339553.5_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron NM_001039464.2 NP_001034553 Q68CQ1 MROH7_HUMAN maestro heat-like repeat family member 7 NA NA extracellular space (GO:0005615)|integral component of membrane (GO:0016021) NA ctgcctccctccatctcttcg 0.667 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832492 CCDS41342.2 1p32.3 2012-12-19 2012-12-19 2012-12-19 ENSG00000184313 ENSG00000184313 374977 maestro heat-like repeat containing 24802 protein-coding gene gene with protein product NA chromosome 1 open reading frame 175, HEAT repeat containing 8 C1orf175, HEATR8 NA 12477932 Standard NM_198547 NM_001039464 NA Approved FLJ46354 uc010ooe.1 Q68CQ1 OTTHUMG00000009890 ENST00000421030.2:c.1469+65C>G chr1.hg19:g.55136314C>G NA A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14 hg19 CCDS41342.2 0.02 3.894331 CCTxCAT COVERED NOVEL MROH7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346978.1 19 20.418795 KEEP 0 0 0 68 2276 CC 1 0.999995 0 + 8 60 273 0 0 18.838853 97 60 3322 230 ENST00000421030.2 0.07619 0.999995 MROH7 374977 __UNKNOWN__ __UNKNOWN__ 1 55165268 55165268 __UNKNOWN__ Intron SNP G G A rs12566459 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:55165268G>A ENST00000421030.2 + 18 3249 MROH7-TTC4_ENST00000414150.2_Intron|MROH7_ENST00000339553.5_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron NM_001039464.2 NP_001034553 Q68CQ1 MROH7_HUMAN maestro heat-like repeat family member 7 NA NA extracellular space (GO:0005615)|integral component of membrane (GO:0016021) NA caccgtgcccggccCAAGCCA 0.567 NA NA G||| 863 0.172324 0.1846 0.1427 5008 , , NA 19068 0.0833 NA 0.2078 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832492 CCDS41342.2 1p32.3 2012-12-19 2012-12-19 2012-12-19 ENSG00000184313 ENSG00000184313 374977 maestro heat-like repeat containing 24802 protein-coding gene gene with protein product NA chromosome 1 open reading frame 175, HEAT repeat containing 8 C1orf175, HEATR8 NA 12477932 Standard NM_198547 NM_001039464 NA Approved FLJ46354 uc010ooe.1 Q68CQ1 OTTHUMG00000009890 ENST00000421030.2:c.2965-726G>A chr1.hg19:g.55165268G>A NA A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14 hg19 CCDS41342.2 0.02 1.219185 CCCxGCC COVERED NOVEL MROH7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346978.1 12 15.9489 KEEP 1 0 0 53 1794 GG 1 0.999768 0 + 4 60 126 0 0 7.531921 80 60 2684 200 ENST00000421030.2 0.047619 0.999768 TTC22 55001 __UNKNOWN__ __UNKNOWN__ 1 55245770 55245770 __UNKNOWN__ 3'UTR SNP C C T rs139373500 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:55245770C>T ENST00000371276.4 - 0 2959 NM_001114108.1 NP_001107580.1 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 NA NA kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 ccagcctgggcgacagagtga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000626 CCDS598.1, CCDS44152.1 1p32.3 2013-01-11 ENSG00000006555 ENSG00000006555 55001 Tetratricopeptide (TTC) repeat domain containing 26067 protein-coding gene gene with protein product NA NA Standard NM_017904 NM_017904 NA Approved FLJ20619 uc009vzt.1 Q5TAA0 OTTHUMG00000009916 ENST00000371276.4:c.*1146G>A chr1.hg19:g.55245770C>T NA Q9NWT4 hg19 CCDS44152.1 0.02 3.081298 GGGxGAC COVERED NOVEL TTC22-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027438.1 23 8.923663 KEEP 3 3 86 60 2004 CC 1 0.999997 0 - 9 60 259 0 1 17.193506 88 60 3042 256 ENST00000371276.4 0.092784 0.999997 BSND 7809 __UNKNOWN__ __UNKNOWN__ 1 55474909 55474909 __UNKNOWN__ 3'UTR SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:55474909C>G ENST00000371265.4 + 0 1825 NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN barttin CLCNK-type chloride channel accessory beta subunit NA NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234) chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 ccaggatgcccttggctccct 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(191;1657 2078 22894 42033 48899) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY034632 CCDS602.1 1p32.3 2014-06-17 2014-06-17 ENSG00000162399 ENSG00000162399 7809 16512 protein-coding gene gene with protein product 606412 deafness, autosomal recessive 73, Bartter syndrome, infantile, with sensorineural deafness (Barttin) DFNB73 NA 11687798, 11734858, 19646679 Standard NM_057176 NM_057176 NA Approved BART uc001cye.3 Q8WZ55 OTTHUMG00000008112 ENST00000371265.4:c.*608C>G chr1.hg19:g.55474909C>G NA Q6NT28 hg19 CCDS602.1 0.02 3.622431 GCCxTTG COVERED NOVEL BSND-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022213.4 9 11.84461 KEEP 0 3 102 75 2615 CC 1 1 0 + 13 60 440 0 0 31.290832 130 60 4508 296 ENST00000371265.4 0.090909 1 USP24 23358 __UNKNOWN__ __UNKNOWN__ 1 55595115 55595115 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:55595115C>T ENST00000294383.6 - 32 3635 USP24_ENST00000407756.1_Intron NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 NA NA ubiquitin-dependent protein catabolic process (GO:0006511) cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459) breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TATTCATTTTCGGCAACTCAT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 39 37 38 NA NA 1 NA 55595115 1831 4080 5911 SO:0001627 intron_variant AB028980 CCDS44154.1, CCDS44154.2 1p32.3 2008-04-11 2005-08-08 ENSG00000162402 ENSG00000162402 23358 Ubiquitin-specific peptidases 12623 protein-coding gene gene with protein product 610569 ubiquitin specific protease 24 NA 12838346 Standard NM_015306 NA Approved KIAA1057 uc021onw.1 Q9UPU5 OTTHUMG00000008135 ENST00000294383.6:c.3635+34G>A chr1.hg19:g.55595115C>T NA Q6ZSY2|Q8N2Y4|Q9NXD1 hg19 CCDS44154.2 0.02 1.199487 TTTxGGC COVERED NOVEL USP24-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022275.2 4 11.435005 KEEP 0 0 0 38 1232 CC 1 0.99911 0 - 5 60 133 0 0 7.624068 74 60 2412 154 ENST00000294383.6 0.063291 0.99911 C1orf168 199920 __UNKNOWN__ __UNKNOWN__ 1 57221554 57221554 __UNKNOWN__ Intron SNP A A G rs1738401|rs71497596|rs35993011 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:57221554A>G ENST00000343433.6 - 7 1211 C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 NA NA NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTTTCTTTTGAAAGATAAAAC 0.408 NA NA G||| 4138 0.826278 0.9486 0.7565 5008 , , NA 21212 0.9345 NA 0.6521 False NA ,,, NA NA NA 2504 0.7781 NA NA NA NA 0 G 192,4212 13,166,2023 79 86 84 0.2 0 1 dbSNP_89 84 216,8384 24,168,4108 no intron C1orf168 NM_001004303.4 37,334,6131 GG,GA,AA 2.5116,4.3597,3.1375 57221554 408,12596 2202 4300 6502 SO:0001627 intron_variant BX648439 CCDS30729.1 1p32.2 2011-02-22 ENSG00000187889 ENSG00000187889 199920 27295 protein-coding gene gene with protein product NA NA 14702039 Standard NM_001004303 NM_001004303 NA Approved RP4-758N20.2, FLJ43208 uc001cym.4 Q5VWT5 OTTHUMG00000008281 ENST00000343433.6:c.1130+14T>C chr1.hg19:g.57221554A>G NA Q63HM3|Q6ZUY6 hg19 CCDS30729.1 0.02 -0.368332 TTGxAAG COVERED NOVEL C1orf168-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022751.2 1 4.814346 KEEP 0 0 0 16 506 AA 0.997832 0.897364 0 - 3 60 105 0 0 7.239889 39 60 1167 76 ENST00000343433.6 0.071429 0.899314 INADL 10207 __UNKNOWN__ __UNKNOWN__ 1 62627285 62627285 __UNKNOWN__ 3'UTR SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:62627285C>A ENST00000371158.2 + 0 6198 NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 tgctgggattccaggcgtgag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB044807 CCDS617.2 1p31 2008-02-05 ENSG00000132849 ENSG00000132849 10207 28881 protein-coding gene gene with protein product 603199 NA 9280290, 11374908 Standard NM_170605 NM_176877 NA Approved Cipp, PATJ uc001dab.3 Q8NI35 OTTHUMG00000008560 ENST00000371158.2:c.*678C>A chr1.hg19:g.62627285C>A NA O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9 hg19 CCDS617.2 0.02 -0.385942 ATTxCAG COVERED NOVEL INADL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023639.2 7 3.912567 KEEP 1 0 0 13 443 CC 0.994391 0.91302 0 + 6 60 169 0 0 12.291408 36 60 1248 86 ENST00000371158.2 0.142857 0.918171 DNAJC6 9829 __UNKNOWN__ __UNKNOWN__ 1 65879252 65879252 __UNKNOWN__ 3'UTR SNP A A G rs10493377 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:65879252A>G ENST00000371069.4 + 0 3658 DNAJC6_ENST00000395325.3_3'UTR NM_001256864.1 NP_001243793.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 NA NA cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369) cytosol (GO:0005829)|synapse (GO:0045202) protein tyrosine phosphatase activity (GO:0004725) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 TGGTCAAGAGAACTAACAAAT 0.328 NA NA G||| 2851 0.569289 0.4985 0.4683 5008 , , NA 16540 0.869 NA 0.4414 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007942 CCDS30739.1, CCDS58004.1, CCDS58005.1 1p31.3 2011-09-02 ENSG00000116675 ENSG00000116675 9829 Heat shock proteins / DNAJ (HSP40) 15469 protein-coding gene gene with protein product auxilin 608375 NA 9455484, 11147971 Standard NM_001256864 NA Approved KIAA0473 uc001dce.2 O75061 OTTHUMG00000009066 ENST00000371069.4:c.*544A>G chr1.hg19:g.65879252A>G NA B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615 hg19 CCDS58004.1 0.02 1.895171 GAGxACT COVERED NOVEL DNAJC6-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000025135.1 4 10.495042 KEEP 0 0 0 35 1019 AA 0.999999 0.999108 0 + 5 60 169 0 0 11.196784 74 60 2204 154 ENST00000371069.4 0.063291 0.99911 PDE4B 5142 __UNKNOWN__ __UNKNOWN__ 1 66723491 66723491 __UNKNOWN__ Nonsense_Mutation SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:66723491C>T ENST00000423207.2 + 4 969 c.484C>T c.(484-486)Cga>Tga p.R162* PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000329654.4_Nonsense_Mutation_p.R177*|PDE4B_ENST00000371049.3_Nonsense_Mutation_p.R177* NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 177 NA cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852) cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277) TGCCAGCTTGCGAAGTGTGAG 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 132 124 126 NA NA 1 NA 66723491 2203 4300 6503 SO:0001587 stop_gained L20971 CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1 1p31 2010-06-24 2010-06-24 ENSG00000184588 ENSG00000184588 5142 Phosphodiesterases 8781 protein-coding gene gene with protein product phosphodiesterase E4 dunce homolog (Drosophila) 600127 phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4), phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila) DPDE4 NA Standard NM_002600 XM_005270925 NA Approved uc001dco.3 Q07343 OTTHUMG00000009088 ENST00000423207.2:c.484C>T chr1.hg19:g.66723491C>T ENSP00000392947:p.Arg162* NA A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6 hg19 CCDS30742.1 0.02 2.777999 TTGxGAA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 38|38 7.160820|7.160820 0.98103|0.98103 .|. .|. ENSG00000184588|ENSG00000184588 ENST00000491340|ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000412480 .|. .|. .|. 5.07|5.07 0.684|0.684 0.18003|0.18003 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|. 0.13927|. 0.0337|. .|. .|. .|. 0.80722|0.80722 A|A 1|1 .|. .|. .|. .|. .|. .|. T|. 0.25222|. -1.0138|. 3|. .|0.02654 .|T .|1 .|. 14.3273|14.3273 0.66528|0.66528 0.5314:0.4686:0.0:0.0|0.5314:0.4686:0.0:0.0 .|. .|. .|. .|. V|X 18|177;177;177;162;85 .|. .|ENSP00000332116:R177X A|R +|+ 2|1 0|2 PDE4B|PDE4B 66496079|66496079 0.971000|0.971000 0.33674|0.33674 0.996000|0.996000 0.52242|0.52242 0.995000|0.995000 0.86356|0.86356 0.139000|0.139000 0.16036|0.16036 0.034000|0.034000 0.15491|0.15491 0.650000|0.650000 0.86243|0.86243 GCG|CGA NOVEL PDE4B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025190.2 8 27.687917 KEEP 0 0 0 92 3148 CC 1 1 0 + 6 60 187 1 0 11.14103 118 60 3975 316 ENST00000423207.2 0.048387 1 SGIP1 84251 __UNKNOWN__ __UNKNOWN__ 1 67160995 67160995 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:67160995G>A ENST00000371037.4 + 18 1647 SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000435165.2_5'UTR|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 NA NA endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021) AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CACGCTAATGGCATGTAGTGC 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136561 CCDS30744.1 1p31.3 2008-02-05 ENSG00000118473 ENSG00000118473 84251 25412 protein-coding gene gene with protein product 611540 NA 11230166 Standard NM_032291 NM_032291 NA Approved DKFZp761D221 uc001dcr.3 Q9BQI5 OTTHUMG00000009161 ENST00000371037.4:c.1571-122G>A chr1.hg19:g.67160995G>A NA A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2 hg19 CCDS30744.1 0.02 3.559231 ATGxCAT COVERED NOVEL SGIP1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000025395.4 32 36.703525 KEEP 0 0 0 122 4241 GG 1 1 0 + 7 60 198 0 0 10.552107 160 60 5590 417 ENST00000371037.4 0.041916 1 WDR78 79819 __UNKNOWN__ __UNKNOWN__ 1 67384795 67384795 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:67384795C>T ENST00000371026.3 - 1 226 WDR78_ENST00000371022.3_Intron|WDR78_ENST00000371023.3_Intron|WDR78_ENST00000431318.1_Intron NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 NA NA hematopoietic progenitor cell differentiation (GO:0002244) NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 atgtctcatgcctccctaaaa 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648840 CCDS635.1, CCDS44157.1 1p31.2 2014-02-21 2013-02-19 2013-02-19 ENSG00000152763 ENSG00000152763 79819 WD repeat domain containing 26252 protein-coding gene gene with protein product NA NA 21953912 Standard NM_024763 NM_207014 NA Approved DIC4, FLJ23129 uc001dcx.3 Q5VTH9 OTTHUMG00000009165 ENST00000371026.3:c.170+5549G>A chr1.hg19:g.67384795C>T NA A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44 hg19 CCDS635.1 0.02 1.149004 ATGxCTC COVERED NOVEL WDR78-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025404.1 6 3.34495 KEEP 0 1 28 21 739 CC 0.999879 0.999809 0 - 5 60 141 0 0 8.079111 87 60 3051 169 ENST00000371026.3 0.054348 0.99993 MIER1 57708 __UNKNOWN__ __UNKNOWN__ 1 67451802 67451802 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:67451802C>T ENST00000355356.3 + 0 2907 MIER1_ENST00000357692.2_3'UTR|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Intron NM_001077701.2|NM_001077704.2 NP_001071169.1|NP_001071172.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator NA NA positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 CAGGCAGTATCGATTTTATGA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1 1p31.2 2013-07-23 2013-07-23 ENSG00000198160 ENSG00000198160 57708 29657 protein-coding gene gene with protein product NA mesoderm induction early response 1 homolog (Xenopus laevis) NA 12242014, 12482978 Standard NM_020948 NM_020948 NA Approved hMI-ER1, MI-ER1, KIAA1610 uc001dde.2 Q8N108 OTTHUMG00000009194 ENST00000355356.3:c.*1219C>T chr1.hg19:g.67451802C>T NA C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2 hg19 CCDS41348.1 0.02 -0.394721 TATxGAT COVERED NOVEL MIER1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025491.2 2 5.115967 KEEP 0 0 0 17 552 CC 0.999366 0.926053 0 + 4 60 117 0 0 7.752288 41 60 1343 88 ENST00000355356.3 0.088889 0.92664 CTH 1491 __UNKNOWN__ __UNKNOWN__ 1 70905181 70905181 __UNKNOWN__ 3'UTR SNP G G A rs183166406 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:70905181G>A ENST00000370938.3 + 0 1733 CTH_ENST00000411986.2_3'UTR NM_001902.5 NP_001893.2 Q96IQ7 VSIG2_HUMAN cystathionine gamma-lyase NA NA integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 AAATTTAAACGAATGTTCTTA 0.239 NA NA G||| 3 0.000599042 0.0023 0 5008 , , NA 15513 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015807 CCDS650.1, CCDS651.1, CCDS53333.1 1p31.1 2014-06-24 2014-06-24 ENSG00000116761 ENSG00000116761 1491 4.4.1.1 2501 protein-coding gene gene with protein product 607657 cystathionase (cystathionine gamma-lyase) NA 1339280 Standard NM_001902 NM_001902 NA Approved uc001dfd.3 P32929 OTTHUMG00000009352 ENST00000370938.3:c.*371G>A chr1.hg19:g.70905181G>A NA O95791|Q9NX42 hg19 CCDS650.1 0.02 -0.377194 AACxAAT COVERED NOVEL CTH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025918.1 0 4.815043 KEEP 0 0 0 16 535 GG 0.997832 0.907098 0 + 4 60 110 0 0 7.179789 38 60 1259 85 ENST00000370938.3 0.095238 0.909069 FPGT-TNNI3K 100526835 __UNKNOWN__ __UNKNOWN__ 1 74841190 74841190 __UNKNOWN__ Intron SNP G G C rs1569093 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:74841190G>C ENST00000370899.3 + 19 2112 TNNI3K_ENST00000326637.3_Intron|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron NM_001199327.1 NP_001186256 FPGT-TNNI3K readthrough NA NA NA tccccagattgcttctgggga 0.408 NA NA G||| 437 0.0872604 0.23 0.0677 5008 , , NA 19464 0 NA 0.0517 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 1p31.3 2014-03-14 ENSG00000259030 ENSG00000259030 100526835 42952 other readthrough NA NA Standard NM_001112808 NA Approved uc001dge.2 OTTHUMG00000166281 ENST00000370899.3:c.2075+5114G>C chr1.hg19:g.74841190G>C NA hg19 0.02 1.900577 ATTxCTT COVERED NOVEL FPGT-TNNI3K-003 NOVEL basic|appris_candidate|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000026438.3 4 7.223746 KEEP 0 0 0 24 862 GG 0.999909 0.994993 0 + 4 60 130 1 0 8.361119 62 60 2140 131 ENST00000370899.3 0.060606 0.995084 CTBS 1486 __UNKNOWN__ __UNKNOWN__ 1 85029077 85029077 __UNKNOWN__ Missense_Mutation SNP C C T rs15911|rs35270754 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:85029077C>T ENST00000370630.5 - 6 868 c.820G>A c.(820-822)Gtc>Atc p.V274I CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 274 NA V -> I (in dbSNP:rs15911). chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) chitinase activity (GO:0004568) breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) CGGAAAGGGACTTTTGCAATG 0.373 NA NA C||| 742 0.148163 0.1082 0.1254 5008 , , NA 12711 0.0298 NA 0.2038 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 C ILE/VAL 564,3840 42,480,1680 43 48 46 820 2.6 1 1 dbSNP_52 46 1870,6728 217,1436,2646 yes missense CTBS NM_004388.2 29 259,1916,4326 TT,TC,CC 21.7492,12.8065,18.7202 possibly-damaging 274/386 85029077 2434,10568 2202 4299 6501 SO:0001583 missense M95767 CCDS698.1 1p22 2010-05-04 ENSG00000117151 ENSG00000117151 1486 3.2.1.- 2496 protein-coding gene gene with protein product 600873 CTB NA 1549114, 7606925 Standard NM_004388 NM_004388 NA Approved uc001dka.2 Q01459 OTTHUMG00000009922 ENST00000370630.5:c.820G>A chr1.hg19:g.85029077C>T ENSP00000359664:p.Val274Ile NA Q5VX50 hg19 CCDS698.1 0.02 -0.271963 GGAxTTT COVERED 287 0.13141025641025642 50 0.1016260162601626 57 0.1574585635359116 21 0.03671328671328671 159 0.20976253298153033 C 17.50 3.403971 0.62288 0.128065 0.217492 ENSG00000117151 ENST00000370630 T 0.07216 3.21 5.5 2.56 0.30785 Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1); 0.175582 0.49305 D 0.000141 T 0.05227 0.0139 M 0.85197 2.74 0.25967 P 0.9825421 P 0.35192 0.489 B 0.37731 0.257 T 0.16217 -1.0410 9 0.32370 T 0.25 -1.2041 5.7446 0.18112 0.2649:0.549:0.1192:0.067 rs15911;rs3177079;rs17297378;rs17359075;rs17374997;rs52800947;rs57212367;rs15911 274 Q01459 DIAC_HUMAN I 274 ENSP00000359664:V274I ENSP00000359659:V183I V - 1 0 CTBS 84801665 0.989000 0.36119 0.991000 0.47740 0.909000 0.53808 0.705000 0.25675 0.271000 0.22005 0.650000 0.86243 GTC NOVEL CTBS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027457.2 1 4.213858 KEEP 0 0 0 14 502 CC 0.995343 0.713975 0 - 3 60 95 0 0 6.65297 28 60 1010 67 ENST00000370630.5 0.096774 0.717315 GBP4 115361 __UNKNOWN__ __UNKNOWN__ 1 89648744 89648744 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:89648744A>G ENST00000355754.6 - 0 4213 GBP4_ENST00000471938.1_Intron NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) ctactttaaaattcatatgga 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288814 CCDS721.1 1p22.2 2008-02-05 ENSG00000162654 ENSG00000162654 115361 20480 protein-coding gene gene with protein product 612466 NA 16689661 Standard NM_052941 NM_052941 NA Approved Mpa2 uc001dnb.3 Q96PP9 OTTHUMG00000010663 ENST00000355754.6:c.*2193T>C chr1.hg19:g.89648744A>G NA B2R630|Q05D63|Q6NSL0|Q86T99 hg19 CCDS721.1 0.02 5.915993 AAAxTTC COVERED NOVEL GBP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029409.1 22 11.063652 KEEP 0 4 135 84 2512 AA 1 1 0 - 10 60 334 0 0 21.339927 173 60 5139 349 ENST00000355754.6 0.054645 1 LRRC8B 23507 __UNKNOWN__ __UNKNOWN__ 1 90049040 90049040 __UNKNOWN__ Silent SNP A A G rs36084789 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:90049040A>G ENST00000330947.2 + 5 1191 c.831A>G c.(829-831)ccA>ccG p.P277P LRRC8B_ENST00000439853.1_Silent_p.P277P|LRRC8B_ENST00000358200.4_Silent_p.P277P|RP5-1007M22.2_ENST00000443562.1_RNA NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 277 NA ion transport (GO:0006811) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) CTTATGTTCCATATTTTTTAA 0.378 NA NA A||| 809 0.161542 0.034 0.1225 5008 , , NA 22995 0.1677 NA 0.2117 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 A , 341,4065 180.5+/-208.7 12,317,1874 120 116 117 831,831 -10.6 0.3 1 dbSNP_126 117 2230,6370 377.5+/-338.5 281,1668,2351 no coding-synonymous,coding-synonymous LRRC8B NM_001134476.1,NM_015350.2 , 293,1985,4225 GG,GA,AA 25.9302,7.7394,19.7678 , 277/804,277/804 90049040 2571,10435 2203 4300 6503 SO:0001819 synonymous_variant AF385436 CCDS724.1 1p22.2 2008-02-05 ENSG00000197147 ENSG00000197147 23507 30692 protein-coding gene gene with protein product T cell activation leucine repeat rich protein 612888 NA 9039502 Standard NM_015350 NM_015350 NA Approved TA-LRRP, KIAA0231 uc001dni.3 Q6P9F7 OTTHUMG00000010129 ENST00000330947.2:c.831A>G chr1.hg19:g.90049040A>G NA D3DT28|Q6UY21|Q8N106|Q92627 hg19 CCDS724.1 0.02 1.742837 TCCxTAT COVERED NOVEL LRRC8B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028008.1 4 15.939332 KEEP 0 0 0 53 1592 AA 1 0.999622 0 + 5 60 166 0 0 10.733436 80 60 2376 177 ENST00000330947.2 0.058824 0.999622 CDC7 8317 __UNKNOWN__ __UNKNOWN__ 1 91979447 91979447 __UNKNOWN__ Intron SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:91979447C>A ENST00000428239.1 + 8 1081 CDC7_ENST00000234626.6_Intron|CDC7_ENST00000430031.2_Intron NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 NA NA cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571) cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) CAGAGTACAGCTGGCAGAAAG 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF015592 CCDS734.1 1p22 2013-01-17 2013-01-17 2003-07-23 ENSG00000097046 ENSG00000097046 8317 1745 protein-coding gene gene with protein product 603311 CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1, CDC7 cell division cycle 7 (S. cerevisiae), cell division cycle 7 (S. cerevisiae), cell division cycle 7 homolog (S. cerevisiae) CDC7L1 NA 9405610, 9250678 Standard NM_003503 NM_003503 NA Approved Hsk1, huCdc7, HsCdc7 uc001dof.3 O00311 OTTHUMG00000047810 ENST00000428239.1:c.823-58C>A chr1.hg19:g.91979447C>A NA D3DT31|O00558|Q5T5U5 hg19 CCDS734.1 0.02 -0.27588 CAGxTGG COVERED NOVEL CDC7-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027928.1 2 2.773995 KEEP 0 1 15 15 439 CC 0.997832 0.738068 0 + 8 60 118 0 0 7.843867 24 60 654 61 ENST00000428239.1 0.25 0.739671 ARHGAP29 9411 __UNKNOWN__ __UNKNOWN__ 1 94667775 94667775 __UNKNOWN__ Intron SNP T T C rs147292847 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:94667775T>C ENST00000260526.6 - 11 1326 ARHGAP29_ENST00000370217.3_3'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 NA NA positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTAGTACACATACACACACAC 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS748.1 1p22.1 2011-06-29 ENSG00000137962 ENSG00000137962 9411 Rho GTPase activating proteins 30207 protein-coding gene gene with protein product 610496 NA 9305890 Standard NM_004815 NM_004815 NA Approved PARG1 uc001dqj.4 Q52LW3 OTTHUMG00000010643 ENST00000260526.6:c.1143+324A>G chr1.hg19:g.94667775T>C NA O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6 hg19 CCDS748.1 0.02 5.824889 ACAxACA COVERED NOVEL ARHGAP29-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029376.2 36 17.47924 KEEP 0 4 128 103 3036 TT 1 1 0 - 9 60 306 1 0 19.500138 166 70 4818 422 ENST00000260526.6 0.051429 1 FRRS1 391059 __UNKNOWN__ __UNKNOWN__ 1 100206317 100206317 __UNKNOWN__ Intron SNP A A G rs187274359 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:100206317A>G ENST00000287474.5 - 6 1178 FRRS1_ENST00000414213.1_Intron NM_001013660.2 NP_001013682.2 Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 NA NA integral component of membrane (GO:0016021) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) gtgaaaccccatctctacaga 0.463 NA NA A||| 4 0.000798722 0 0 5008 , , NA 17707 0 NA 0.004 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 A 0,4406 0,0,2203 94 97 96 0.2 0.8 1 96 5,8595 4.3+/-15.6 0,5,4295 no intron FRRS1 NM_001013660.2 0,5,6498 GG,GA,AA 0.0581,0.0,0.0384 100206317 5,13001 2203 4300 6503 SO:0001627 intron_variant AK131302 CCDS30780.1 1p21.3 2009-11-30 2006-02-22 2006-02-22 ENSG00000156869 ENSG00000156869 391059 27622 protein-coding gene gene with protein product 611578 stromal cell derived factor receptor 2 homolog (mouse) SDFR2 NA Standard NM_001013660 NM_001013660 NA Approved SDR2 uc001dsh.1 Q6ZNA5 OTTHUMG00000010768 ENST00000287474.5:c.576+31T>C chr1.hg19:g.100206317A>G NA A6NLN7 hg19 CCDS30780.1 0.02 3.929567 CCCxTCT COVERED NOVEL FRRS1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000029677.3 15 17.385612 KEEP 0 1 35 70 2147 AA 1 0.999991 0 - 6 60 203 0 0 13.365698 92 60 2785 254 ENST00000287474.5 0.061224 0.999991 RTCA 8634 __UNKNOWN__ __UNKNOWN__ 1 100758136 100758136 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:100758136C>T ENST00000370128.4 + 0 2346 NM_003729.3 NP_003720.1 O00442 RTCA_HUMAN RNA 3'-terminal phosphate cyclase NA NA RNA processing (GO:0006396) nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963) NA ggattacaggcatgagccacc 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y11651 CCDS768.1, CCDS44178.1 1p13.3 2012-03-30 2012-03-30 2012-03-30 ENSG00000137996 ENSG00000137996 8634 6.5.1.4 17981 protein-coding gene gene with protein product 611286 RTC domain containing 1, RNA terminal phosphate cyclase domain 1 RTCD1 NA 9184239 Standard NM_003729 NA Approved RPC, RTC1 uc001dtd.3 O00442 OTTHUMG00000010920 ENST00000370128.4:c.*1076C>T chr1.hg19:g.100758136C>T NA Q5VVL5|Q5VVL6|Q96E99 hg19 CCDS768.1 0.02 -0.289498 AGGxATG COVERED NOVEL RTCA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030098.2 5 4.815781 KEEP 1 0 0 16 570 CC 0.99649 0.758216 0 + 3 60 93 0 0 6.544653 26 60 906 68 ENST00000370128.4 0.103448 0.760887 RTCA 8634 __UNKNOWN__ __UNKNOWN__ 1 100758137 100758137 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:100758137A>G ENST00000370128.4 + 0 2347 NM_003729.3 NP_003720.1 O00442 RTCA_HUMAN RNA 3'-terminal phosphate cyclase NA NA RNA processing (GO:0006396) nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963) NA gattacaggcatgagccacca 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y11651 CCDS768.1, CCDS44178.1 1p13.3 2012-03-30 2012-03-30 2012-03-30 ENSG00000137996 ENSG00000137996 8634 6.5.1.4 17981 protein-coding gene gene with protein product 611286 RTC domain containing 1, RNA terminal phosphate cyclase domain 1 RTCD1 NA 9184239 Standard NM_003729 NA Approved RPC, RTC1 uc001dtd.3 O00442 OTTHUMG00000010920 ENST00000370128.4:c.*1077A>G chr1.hg19:g.100758137A>G NA Q5VVL5|Q5VVL6|Q96E99 hg19 CCDS768.1 0.02 -0.289434 GGCxTGA COVERED NOVEL RTCA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030098.2 5 4.814365 KEEP 1 0 0 16 489 AA 0.99649 0.758216 0 + 3 60 108 0 0 8.043628 26 60 781 68 ENST00000370128.4 0.103448 0.760887 COL11A1 1301 __UNKNOWN__ __UNKNOWN__ 1 103548497 103548497 __UNKNOWN__ Missense_Mutation SNP A A C rs11164663 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:103548497A>C ENST00000370096.3 - 2 450 c.138T>G c.(136-138)gaT>gaG p.D46E COL11A1_ENST00000353414.4_Missense_Mutation_p.D46E|COL11A1_ENST00000358392.2_Missense_Mutation_p.D46E|COL11A1_ENST00000512756.1_Missense_Mutation_p.D46E NM_001854.3 NP_001845.3 P12107 COBA1_HUMAN collagen, type XI, alpha 1 46 NA D -> E (in dbSNP:rs11164663). cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601) collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AATTGTGAAAATCTAGTGCTT 0.333 NA NA A||| 317 0.0632987 0.1241 0.0447 5008 , , NA 14822 0.0208 NA 0.0835 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 A GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP 580,3826 252.1+/-258.6 36,508,1659 95 96 96 138,138,138,138 3 1 1 dbSNP_120 96 705,7895 171.6+/-222.5 30,645,3625 yes missense,missense,missense,missense COL11A1 NM_080630.3,NM_080629.2,NM_001854.3,NM_001190709.1 45,45,45,45 66,1153,5284 CC,CA,AA 8.1977,13.1639,9.8801 benign,benign,benign,benign 46/1691,46/1819,46/1807,46/1768 103548497 1285,11721 2203 4300 6503 SO:0001583 missense J04177 CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1 1p21 2013-01-16 ENSG00000060718 ENSG00000060718 1301 Collagens 2186 protein-coding gene gene with protein product collagen XI, alpha-1 polypeptide 120280 COLL6 NA 3182841 Standard NM_080630 NM_080630 NA Approved STL2, CO11A1 uc001dul.3 P12107 OTTHUMG00000010872 ENST00000370096.3:c.138T>G chr1.hg19:g.103548497A>C ENSP00000359114:p.Asp46Glu NA B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6 hg19 CCDS778.1 0.02 1.856848 AAAxTCT COVERED 136 0.06227106227106227 46 0.09349593495934959 17 0.04696132596685083 13 0.022727272727272728 60 0.079155672823219 A 6.808 0.518173 0.13005 0.131639 0.081977 ENSG00000060718 ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239 T;T;T;T;T 0.02140 4.43;4.43;4.43;4.43;4.43 5.7 2.99 0.34606 Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1); 0.226724 0.44285 D 0.000473 T 0.00328 0.0010 N 0.10972 0.075 0.38472 P 0.05249499999999996 B;B;B;B 0.06786 0.0;0.001;0.001;0.0 B;B;B;B 0.04013 0.0;0.001;0.001;0.0 T 0.48547 -0.9026 9 0.06625 T 0.88 . 0.5818 0.00713 0.3431:0.2659:0.1208:0.2701 rs11164663;rs61468253;rs11164663 46;46;46;46 E9PCU0;P12107-3;P12107-2;P12107 .;.;.;COBA1_HUMAN E 46 ENSP00000359114:D46E;ENSP00000351163:D46E;ENSP00000302551:D46E;ENSP00000426533:D46E;ENSP00000408640:D46E ENSP00000302551:D46E D - 3 2 COL11A1 103321085 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 1.159000 0.31749 2.175000 0.68902 0.383000 0.25322 GAT NOVEL COL11A1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000029997.1 1 10.228934 KEEP 0 0 0 34 1036 AA 0.999998 0.997551 0 - 4 60 141 0 0 9.302928 68 60 2033 151 ENST00000370096.3 0.055556 0.997553 RNPC3 55599 __UNKNOWN__ __UNKNOWN__ 1 104068817 104068817 __UNKNOWN__ Missense_Mutation SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:104068817A>G ENST00000533099.1 + 2 361 c.125A>G c.(124-126)gAg>gGg p.E42G RNPC3_ENST00000423855.2_Missense_Mutation_p.E42G|RNPC3_ENST00000524631.1_Missense_Mutation_p.E42G Q96LT9 RBM40_HUMAN RNA-binding region (RNP1, RRM) containing 3 42 Necessary for interaction with PDCD7.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163) ACTGCTGAGGAGAAAGAGGAC 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 54 50 51 NA NA 1 NA 104068817 692 1591 2283 SO:0001583 missense AB058742, AY099329 CCDS781.1 1p21.1 2013-07-16 ENSG00000185946 ENSG00000185946 55599 RNA binding motif (RRM) containing 18666 protein-coding gene gene with protein product U11/U12 snRNP 65K NA NA 14974681, 15146077 Standard NM_017619 NM_017619 NA Approved KIAA1839, FLJ20008, RBM40, SNRNP65 uc010oun.2 Q96LT9 OTTHUMG00000166613 ENST00000533099.1:c.125A>G chr1.hg19:g.104068817A>G ENSP00000432886:p.Glu42Gly NA A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2 hg19 CCDS781.1 0.02 3.839701 AGGxGAA COVERED . . . . . . . . . . A 27.5 4.840752 0.91197 . . ENSG00000185946 ENST00000524631;ENST00000531883;ENST00000533099;ENST00000423855 T;T;T;T 0.19532 2.14;2.14;2.14;2.14 5.09 5.09 0.68999 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.000000 0.85682 D 0.000000 T 0.38374 0.1038 M 0.77820 2.39 0.58432 D 0.999994 D;D 0.89917 0.999;1.0 D;D 0.91635 0.998;0.999 T 0.36696 -0.9737 10 0.87932 D 0 -5.887 13.245 0.60018 1.0:0.0:0.0:0.0 . 42;42 A8K1C9;Q96LT9 .;RBM40_HUMAN G 42 ENSP00000437278:E42G;ENSP00000431344:E42G;ENSP00000432886:E42G;ENSP00000391432:E42G ENSP00000391432:E42G E + 2 0 RNPC3 103841405 1.000000 0.71417 1.000000 0.80357 0.680000 0.39746 7.025000 0.76449 2.128000 0.65567 0.460000 0.39030 GAG NOVEL RNPC3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390812.1 4 8.848888 KEEP 0 4 121 72 2174 AA 1 1 0 + 8 60 279 0 0 18.406752 132 60 3940 275 ENST00000533099.1 0.057143 1 CSF1 1435 __UNKNOWN__ __UNKNOWN__ 1 110453379 110453379 __UNKNOWN__ 5'UTR SNP A A G rs561803747 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:110453379A>G ENST00000329608.6 + 0 125 CSF1_ENST00000344188.5_5'UTR NM_000757.5|NM_172211.3 NP_000748|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) NA NA branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) gtgtgtgtgtatgtgtgtgtC 0.647 NA NA A||| 37 0.00738818 0.0121 0.0029 5008 , , NA 7712 0.0069 NA 0.007 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC021117 CCDS816.1, CCDS817.1, CCDS30797.1 1p13.3 2012-09-20 ENSG00000184371 ENSG00000184371 1435 2432 protein-coding gene gene with protein product 120420 NA 1540160 Standard NM_000757 NM_172210 NA Approved M-CSF, MCSF, MGC31930 uc001dyw.4 P09603 OTTHUMG00000011646 ENST00000329608.6:c.-267A>G chr1.hg19:g.110453379A>G NA A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8 hg19 CCDS816.1 0.02 5.835681 TGTxTGT COVERED NOVEL CSF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032208.1 30 10.623746 KEEP 0 3 108 73 2071 AA 1 1 0 + 10 60 317 0 1 20.042414 173 60 4917 389 ENST00000329608.6 0.054645 1 FAM212B 55924 __UNKNOWN__ __UNKNOWN__ 1 112269353 112269353 __UNKNOWN__ 3'UTR SNP G G A rs41314013|rs138918319 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:112269353G>A ENST00000357260.5 - 0 1312 FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_3'UTR NM_019099.4 NP_061972.1 Q9NTI7 F212B_HUMAN family with sequence similarity 212, member B NA NA cervix(1)|endometrium(1) 2 acacacacacgcacaGCTCAC 0.567 NA NA G||| 219 0.04373 0.0113 0.0231 5008 , , NA 17655 0.0526 NA 0.0646 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055667 CCDS841.1, CCDS44195.1 1p13.2 2011-11-24 2011-11-24 2011-11-24 ENSG00000197852 ENSG00000197852 55924 28045 protein-coding gene gene with protein product NA chromosome 1 open reading frame 183 C1orf183 NA Standard NM_019099 NM_019099 NA Approved FLJ31105 uc001ebo.2 Q9NTI7 OTTHUMG00000011953 ENST00000357260.5:c.*237C>T chr1.hg19:g.112269353G>A NA B3KP38|B4DF94|Q9NTI6 hg19 CCDS841.1 0.02 2.836786 CACxCAC COVERED NOVEL FAM212B-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000033060.2 37 4.289946 KEEP 0 6 187 80 2564 GG 1 1 0 - 9 60 265 1 0 16.736754 117 60 3794 314 ENST00000357260.5 0.071429 1 MAN1A2 10905 __UNKNOWN__ __UNKNOWN__ 1 117910682 117910682 __UNKNOWN__ 5'UTR SNP G G A rs1146297 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:117910682G>A ENST00000356554.3 + 0 612 MAN1A2_ENST00000482811.1_3'UTR NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 NA NA cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) AAGCACAACAGTCCTTTAAGA 0.418 NA NA g||| 3907 0.780152 0.9539 0.6772 5008 , , NA 19939 0.623 NA 0.7555 False NA ,,, NA NA NA 2504 0.8057 NA NA NA Ovarian(33;199 881 8228 13687 31538) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF027156 CCDS895.1 1p13 2008-02-05 ENSG00000198162 ENSG00000198162 10905 6822 protein-coding gene gene with protein product 604345 NA 9592125 Standard NM_006699 NM_006699 NA Approved MAN1B uc001ehd.1 O60476 OTTHUMG00000012149 ENST00000356554.3:c.-124G>A chr1.hg19:g.117910682G>A NA Q9H510 hg19 CCDS895.1 0.02 1.400921 ACAxTCC COVERED NOVEL MAN1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033593.1 3 4.54754 KEEP 0 1 25 24 821 GG 0.999931 0.979459 0 + 5 60 150 0 0 10.114492 50 60 1711 110 ENST00000356554.3 0.090909 0.979526 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145015582 145015582 __UNKNOWN__ Intron SNP G G A rs2799194 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:145015582G>A ENST00000530740.1 - 3 480 PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000493130.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369348.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) tcctaagtatgtatgtataga 0.323 NA NA T PDGFRB MPD G||| 1866 0.372604 0.3154 0.3588 5008 , , NA 68338 0.4593 NA 0.3708 False NA ,,, NA NA NA 2504 0.3722 NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.441+277C>T chr1.hg19:g.145015582G>A NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 2.90322 TATxTAT COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 2 4.5188 KEEP 0 3 94 48 1668 GG 1 0.999999 0 - 13 60 376 0 0 25.89215 108 60 3722 225 ENST00000530740.1 0.107438 0.999999 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145209350 145209350 __UNKNOWN__ 5'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:145209350A>C ENST00000468030.1 + 0 206 NOTCH2NL_ENST00000362074.6_5'UTR|NOTCH2NL_ENST00000344859.3_5'UTR NA NA NA gcggcggaggaggcgACCGAG 0.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 3 4 3 NA NA 1 NA 145209350 1279 2907 4186 SO:0001623 5_prime_UTR_variant NA NA NA NA NA ENST00000468030.1:c.-131A>C chr1.hg19:g.145209350A>C NA hg19 0.02 3.036495 AGGxGGC COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 4 21.491647 KEEP 11 2 58 92 2633 AA 1 1 0 + 6 27 173 0 0 9.402719 136 60 3988 333 ENST00000468030.1 0.042254 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145209926 145209926 __UNKNOWN__ Intron SNP C C G rs201021906 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:145209926C>G ENST00000468030.1 + 1 292 NOTCH2NL_ENST00000362074.6_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA ACGGCCTGCACCTTCGCAGCC 0.692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000468030.1:c.-45+490C>G chr1.hg19:g.145209926C>G NA hg19 0.02 25.639443 GCAxCTT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 9 24.124635 KEEP 1 19 661 311 10607 CC 1 1 0 + 55 50 1960 0 0 141.336423 572 51 19411 1313 ENST00000468030.1 0.087719 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145281613 145281613 __UNKNOWN__ Missense_Mutation SNP C C A rs12120756 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:145281613C>A ENST00000468030.1 + 4 879 c.543C>A c.(541-543)agC>agA p.S181R NOTCH2NL_ENST00000369340.3_Missense_Mutation_p.S181R|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.S181R|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.S181R NA NA NA ACTGTGACAGCCTGTATGTGC 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 176 177 176 NA NA 1 NA 145281613 2203 4300 6503 SO:0001583 missense NA NA NA NA NA ENST00000468030.1:c.543C>A chr1.hg19:g.145281613C>A ENSP00000457682:p.Ser181Arg NA hg19 0.02 11.719505 CAGxCTG COVERED . . . . . . . . . . C 9.397 1.076941 0.20227 . . ENSG00000213240 ENST00000362074;ENST00000344859;ENST00000369340 T;T;T 0.38077 1.16;1.16;1.16 2.87 0.902 0.19290 . . . . . T 0.22820 0.0551 L 0.41415 1.275 0.21984 N 0.99944 P;D 0.57257 0.879;0.979 P;P 0.62298 0.55;0.9 T 0.09400 -1.0676 9 0.19147 T 0.46 . 6.5879 0.22630 0.0:0.7256:0.0:0.2744 rs12120756 181;181 Q7Z3S9-2;Q7Z3S9 .;NT2NL_HUMAN R 181 ENSP00000354929:S181R;ENSP00000344557:S181R;ENSP00000358346:S181R ENSP00000344557:S181R S + 3 2 NOTCH2NL 143992970 0.000000 0.05858 0.686000 0.30086 0.100000 0.18952 -0.561000 0.05957 0.529000 0.28599 0.400000 0.26472 AGC NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 8 5.878034 KEEP 1 14 422 168 5819 CC 1 1 0 + 40 60 1207 0 0 83.640782 354 60 12251 752 ENST00000468030.1 0.101523 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 146509468 146509468 __UNKNOWN__ IGR SNP A A G rs12141289 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:146509468A>G NA NA RP4-704D21.2 (34291 upstream) : RNVU1-8 (41826 downstream) NA NA NA AATACTACATAATACCCTATT 0.358 NA NA G||| 832 0.166134 0.2489 0.1585 5008 , , NA 19616 0.0278 NA 0.2873 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.146509468A>G NA hg19 0.02 1.900656 CATxATA COVERED NOVEL 0 5 9.928973 KEEP 0 0 0 33 994 AA 0.999998 0.995081 0 4 60 143 1 0 9.630958 63 60 1878 150 0.059701 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 146509933 146509933 __UNKNOWN__ IGR SNP C C T rs12066741 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:146509933C>T NA NA RP4-704D21.2 (34756 upstream) : RNVU1-8 (41361 downstream) NA NA NA ATGCATAAACCGTGTAAAGAG 0.358 NA NA T||| 1620 0.323482 0.4047 0.2363 5008 , , NA 14650 0.4772 NA 0.1859 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.146509933C>T NA hg19 0.02 -0.385934 AACxGTG COVERED NOVEL 0 4 7.222373 KEEP 7 0 0 24 790 CC 0.999909 0.918088 0 11 57 328 0 0 27.303884 33 70 1088 96 0.25 0.918171 ENSA 2029 __UNKNOWN__ __UNKNOWN__ 1 150597729 150597729 __UNKNOWN__ Intron SNP G G A rs587751580 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:150597729G>A ENST00000369016.4 - 4 494 ENSA_ENST00000361532.5_Intron|ENSA_ENST00000369009.3_Intron|ENSA_ENST00000339643.5_Intron|ENSA_ENST00000369014.5_Intron|ENSA_ENST00000356527.5_3'UTR|ENSA_ENST00000361631.5_Intron|ENSA_ENST00000271690.8_3'UTR|ENSA_ENST00000513281.1_3'UTR O43768 ENSA_HUMAN endosulfine alpha NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(1)|lung(1) 4 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171) TCCCAACTACGTTAGGTTAGC 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(188;763 2078 3002 3411 26027) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99906 CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1 1q21.3 2010-03-11 ENSG00000143420 ENSG00000143420 2029 3360 protein-coding gene gene with protein product 603061 NA 9653196 Standard NM_207042 NM_004436 NA Approved MGC4319, MGC8394, MGC78563, ARPP-19e uc001eve.3 O43768 OTTHUMG00000035004 ENST00000369016.4:c.398+388C>T chr1.hg19:g.150597729G>A NA A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0 hg19 0.02 4.385792 TACxTTA COVERED NOVEL ENSA-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000087245.1 4 22.875697 KEEP 0 3 91 108 3647 GG 1 1 0 - 7 60 210 0 0 11.565027 170 60 5650 404 ENST00000369016.4 0.039548 1 GABPB2 126626 __UNKNOWN__ __UNKNOWN__ 1 151091538 151091538 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:151091538A>G ENST00000368918.3 + 0 2484 GABPB2_ENST00000368917.1_3'UTR NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212) breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) tgtaatcccaacactttggga 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS983.1 1q21.2 2013-01-10 ENSG00000143458 ENSG00000143458 126626 Ankyrin repeat domain containing 28441 protein-coding gene gene with protein product NA NA 7958862 Standard NM_144618 NM_144618 NA Approved MGC29891 uc001ewr.2 Q8TAK5 OTTHUMG00000012193 ENST00000368918.3:c.*806A>G chr1.hg19:g.151091538A>G NA B1AVJ8|D3DV14|Q8NAR5 hg19 CCDS983.1 0.02 5.69002 CCAxCAC COVERED NOVEL GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033700.2 35 12.073845 KEEP 0 4 137 88 2751 AA 1 1 0 + 11 60 354 0 0 22.742531 167 60 5076 368 ENST00000368918.3 0.061798 1 TDRKH 11022 __UNKNOWN__ __UNKNOWN__ 1 151752383 151752383 __UNKNOWN__ Intron SNP G G A rs12754510 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:151752383G>A ENST00000368822.1 - 4 1055 TDRKH_ENST00000484421.1_Intron|TDRKH_ENST00000368824.3_Intron|TDRKH_ENST00000458431.2_Intron|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368827.6_Intron|TDRKH_ENST00000368823.1_Intron|TDRKH_ENST00000440583.2_Intron Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing NA NA cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283) mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547) RNA binding (GO:0003723) breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GAGGGGCAAAGGTAAAGAATA 0.473 NA NA G||| 353 0.0704872 0.0756 0.0706 5008 , , NA 19545 0.0149 NA 0.1252 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 G ,,, 289,3437 7,275,1581 59 58 59 ,,, 1.9 0.9 1 dbSNP_121 59 935,7263 64,807,3228 no intron,intron,intron,intron TDRKH NM_001083963.1,NM_001083964.1,NM_001083965.1,NM_006862.3 ,,, 71,1082,4809 AA,AG,GG 11.4052,7.7563,10.265 ,,, ,,, 151752383 1224,10700 1863 4099 5962 SO:0001627 intron_variant AF227192 CCDS41394.1, CCDS41395.1 1q21 2013-01-23 2003-11-07 ENSG00000182134 ENSG00000182134 11022 Tudor domain containing 11713 protein-coding gene gene with protein product 609501 tudor and KH domain containing NA 10767542 Standard NM_006862 NM_001083964 NA Approved TDRD2 uc001eza.4 Q9Y2W6 OTTHUMG00000013062 ENST00000368822.1:c.421+43C>T chr1.hg19:g.151752383G>A NA D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5 hg19 CCDS41394.1 0.02 -0.324584 AAAxGTA COVERED NOVEL TDRKH-005 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000036648.2 1 4.815381 KEEP 0 0 0 16 563 GG 0.997832 0.833904 0 - 5 60 153 0 0 11.522021 29 60 1006 71 ENST00000368822.1 0.147059 0.835716 ILF2 3608 __UNKNOWN__ __UNKNOWN__ 1 153636860 153636860 __UNKNOWN__ Intron SNP A A G rs4351684 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:153636860A>G ENST00000361891.4 - 9 782 ILF2_ENST00000480213.1_Intron NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 NA NA immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740) cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AAATGGTTAGAGAGGGACTCA 0.453 NA NA G||| 3261 0.651158 0.6838 0.7089 5008 , , NA 19797 0.6954 NA 0.5199 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 G 2920,1486 476.6+/-357.7 953,1014,236 103 96 99 -7.2 0 1 dbSNP_111 99 4658,3942 549.2+/-385.5 1259,2140,901 no intron ILF2 NM_004515.2 2212,3154,1137 GG,GA,AA 45.8372,33.7267,41.7346 153636860 7578,5428 2203 4300 6503 SO:0001627 intron_variant U10323 CCDS1050.1, CCDS72919.1 1q21.3 2012-12-04 2012-12-04 ENSG00000143621 ENSG00000143621 3608 6037 protein-coding gene gene with protein product 603181 interleukin enhancer binding factor 2, 45kD, interleukin enhancer binding factor 2, 45kDa NA 7519613 Standard NM_004515 NM_004515 NA Approved NF45 uc001fcr.4 Q12905 OTTHUMG00000037087 ENST00000361891.4:c.656+11T>C chr1.hg19:g.153636860A>G NA A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0 hg19 CCDS1050.1 0.02 3.769402 TAGxGAG COVERED NOVEL ILF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090040.1 8 24.37472 KEEP 0 0 0 81 2576 AA 1 1 0 - 5 60 173 0 0 10.233001 141 60 4389 304 ENST00000361891.4 0.034247 1 GON4L 54856 __UNKNOWN__ __UNKNOWN__ 1 155734502 155734502 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:155734502C>T ENST00000437809.1 - 21 4596 GON4L_ENST00000271883.5_Intron|GON4L_ENST00000368331.1_Intron|GON4L_ENST00000361040.5_3'UTR NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) NA NA regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) agtgctgggactacaggagtg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046826 CCDS1121.1, CCDS44242.1, CCDS60296.1 1q22 2013-10-31 2006-11-08 2006-02-16 ENSG00000116580 ENSG00000116580 54856 25973 protein-coding gene gene with protein product 610393 gon-4 homolog (C.elegans) GON4 NA 16545939, 21454521 Standard NM_032292 XM_005245283 NA Approved FLJ20203, GON-4 uc001fly.1 Q3T8J9 OTTHUMG00000014106 ENST00000437809.1:c.4473+288G>A chr1.hg19:g.155734502C>T NA B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6 hg19 CCDS44242.1 0.02 2.952354 GGAxTAC COVERED NOVEL GON4L-019 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340937.1 25 7.061341 KEEP 1 4 124 67 2359 CC 1 1 0 - 6 60 170 0 0 9.417049 120 60 4229 302 ENST00000437809.1 0.047619 1 KIAA0907 22889 __UNKNOWN__ __UNKNOWN__ 1 155885587 155885587 __UNKNOWN__ Intron SNP T T C rs546822119 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:155885587T>C ENST00000368321.3 - 13 1669 KIAA0907_ENST00000368320.3_3'UTR NM_014949.2 NP_055764.2 Q7Z7F0 K0907_HUMAN KIAA0907 NA NA RNA binding (GO:0003723) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) cgtgagccactgcgcccggcT 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC062637 CCDS30885.1 1q22 2012-11-30 ENSG00000132680 ENSG00000132680 22889 29145 protein-coding gene gene with protein product NA NA 10048485 Standard NM_014949 NM_014949 NA Approved BLOM7 uc001fmi.1 Q7Z7F0 OTTHUMG00000014103 ENST00000368321.3:c.1645+76A>G chr1.hg19:g.155885587T>C NA O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0 hg19 CCDS30885.1 0.02 8.108786 CACxGCG COVERED NOVEL KIAA0907-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039583.1 53 18.663262 KEEP 2 6 206 134 4114 TT 1 1 0 - 8 60 287 0 0 17.648939 209 60 6395 556 ENST00000368321.3 0.036866 1 MEF2D 4209 __UNKNOWN__ __UNKNOWN__ 1 156435473 156435473 __UNKNOWN__ 3'UTR SNP T T C rs187653349|rs201586484|rs558460420|rs397945978 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:156435473T>C ENST00000348159.4 - 0 4010 MEF2D_ENST00000340875.5_3'UTR|MEF2D_ENST00000353795.3_3'UTR|MEF2D_ENST00000464356.2_3'UTR|MEF2D_ENST00000368240.2_3'UTR NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D NA NA adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) caatcagacatacacacacac 0.483 NA NA T||| 89 0.0177716 8e-04 0.0115 5008 , , NA 20899 0.0665 NA 0.0089 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC054520 CCDS1143.1, CCDS60304.1 1q12-q23 2008-02-05 2007-04-24 ENSG00000116604 ENSG00000116604 4209 Myocyte enhancer factors 6997 protein-coding gene gene with protein product 600663 NA 8269842 Standard NM_005920 NM_005920 NA Approved uc001fpb.4 Q14814 OTTHUMG00000033095 ENST00000348159.4:c.*1964A>G chr1.hg19:g.156435473T>C NA D3DVC0|Q14815|Q5T9U5|Q5T9U6 hg19 CCDS1143.1 0.02 7.555112 ACAxACA COVERED NOVEL MEF2D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080562.2 51 31.035551 KEEP 0 1 36 116 3307 TT 1 1 0 - 7 60 241 0 2 14.037902 209 70 6001 476 ENST00000348159.4 0.032407 1 ISG20L2 81875 __UNKNOWN__ __UNKNOWN__ 1 156692671 156692671 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:156692671C>T ENST00000313146.6 - 0 2314 ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_3'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 NA NA ribosome biogenesis (GO:0042254) nucleus (GO:0005634) exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) agtgttgggactacaggtgtg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095697 CCDS1153.1 1q23.1 2013-10-11 ENSG00000143319 ENSG00000143319 81875 25745 protein-coding gene gene with protein product 611930 NA 18065403 Standard NM_030980 NM_030980 NA Approved FLJ12671 uc001fps.1 Q9H9L3 OTTHUMG00000041301 ENST00000313146.6:c.*470G>A chr1.hg19:g.156692671C>T NA D3DVC6|Q64KA2 hg19 CCDS1153.1 0.02 1.039113 GGAxTAC COVERED NOVEL ISG20L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098969.1 7 6.957422 KEEP 0 1 31 34 1199 CC 0.999999 0.999676 0 - 5 60 144 0 0 8.731168 73 60 2553 159 ENST00000313146.6 0.064103 0.999678 FCRL5 83416 __UNKNOWN__ __UNKNOWN__ 1 157484575 157484575 __UNKNOWN__ 3'UTR SNP A A G rs3843307 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:157484575A>G ENST00000361835.3 - 0 3981 FCRL5_ENST00000461387.1_5'UTR NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 NA NA negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CTTCTCTTCCATTGTTTCTTA 0.448 NA NA a||| 3100 0.61901 0.3578 0.7161 5008 , , NA 23004 0.7817 NA 0.6829 False NA ,,, NA NA NA 2504 0.6697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF369794 CCDS1165.1 1q21 2013-01-11 ENSG00000143297 ENSG00000143297 83416 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 18508 protein-coding gene gene with protein product 605877 NA 11027651, 11290337 Standard NM_031281 NM_031281 NA Approved FCRH5, IRTA2, BXMAS1, CD307e uc009wsm.3 Q96RD9 OTTHUMG00000017481 ENST00000361835.3:c.*890T>C chr1.hg19:g.157484575A>G NA A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46 hg19 CCDS1165.1 0.02 1.385977 TCCxTTG COVERED NOVEL FCRL5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000046263.1 3 6.618791 KEEP 0 0 0 22 654 AA 0.999879 0.996112 0 - 4 60 127 0 0 7.981451 65 60 1941 125 ENST00000361835.3 0.057971 0.996233 FCRL4 83417 __UNKNOWN__ __UNKNOWN__ 1 157550066 157550066 __UNKNOWN__ Intron SNP T T C rs10489673 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:157550066T>C ENST00000271532.1 - 8 1413 FCRL4_ENST00000448509.2_Intron NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 NA NA immune system process (GO:0002376) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TTGCATATTGTGTACTCGGGA 0.403 NA NA T||| 1916 0.382588 0.0318 0.5159 5008 , , NA 19045 0.619 NA 0.3817 False NA ,,, NA NA NA 2504 0.5194 NA NA NA NA 0 T 372,4034 190.2+/-216.2 17,338,1848 141 136 138 -0.6 0 1 dbSNP_119 138 3337,5263 498.1+/-374.7 619,2099,1582 no intron FCRL4 NM_031282.2 636,2437,3430 CC,CT,TT 38.8023,8.443,28.5176 157550066 3709,9297 2203 4300 6503 SO:0001627 intron_variant AF343661 CCDS1166.1 1q21 2013-01-14 ENSG00000163518 ENSG00000163518 83417 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 18507 protein-coding gene gene with protein product 605876 NA 11290337, 11493702 Standard NM_031282 NM_031282 NA Approved FCRH4, IRTA1, IGFP2, CD307d uc001fqw.3 Q96PJ5 OTTHUMG00000035488 ENST00000271532.1:c.1277+44A>G chr1.hg19:g.157550066T>C NA Q96PJ3|Q96RE0 hg19 CCDS1166.1 0.02 1.789119 TTGxGTA COVERED NOVEL FCRL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086180.1 5 19.254028 KEEP 0 0 0 64 1922 TT 1 0.981955 0 - 4 60 132 0 0 8.822513 53 60 1580 166 ENST00000271532.1 0.070175 0.981955 IFI16 3428 __UNKNOWN__ __UNKNOWN__ 1 158988270 158988270 __UNKNOWN__ Silent SNP T T C rs11539423 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:158988270T>C ENST00000368131.4 + 5 1091 c.801T>C c.(799-801)taT>taC p.Y267Y IFI16_ENST00000448393.2_Silent_p.Y267Y|IFI16_ENST00000359709.3_Silent_p.Y211Y|IFI16_ENST00000430894.2_Silent_p.Y215Y|IFI16_ENST00000340979.6_Silent_p.Y267Y|IFI16_ENST00000368132.3_Silent_p.Y267Y|IFI16_ENST00000295809.7_Silent_p.Y267Y NM_005531.2 NP_005522.2 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 267 HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus. NA activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134) cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) ATTTGGAATATGATAGTCTCC 0.363 NA NA T||| 144 0.028754 0.0174 0.0591 5008 , , NA 18407 0 NA 0.0636 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 T , 95,4311 74.7+/-112.8 2,91,2110 65 67 67 633,801 -5.2 0 1 dbSNP_120 67 546,8054 149.7+/-204.7 25,496,3779 no coding-synonymous,coding-synonymous IFI16 NM_001206567.1,NM_005531.2 , 27,587,5889 CC,CT,TT 6.3488,2.1562,4.9285 , 211/730,267/730 158988270 641,12365 2203 4300 6503 SO:0001819 synonymous_variant M63838 CCDS1180.3, CCDS58039.1 1q22 2008-02-05 ENSG00000163565 ENSG00000163565 3428 5395 protein-coding gene gene with protein product 147586 NA 1526658, 7959953 Standard NM_005531 NM_005531 NA Approved IFNGIP1, PYHIN2 uc010pis.2 Q16666 OTTHUMG00000037108 ENST00000368131.4:c.801T>C chr1.hg19:g.158988270T>C NA B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78 hg19 CCDS1180.3 0.02 1.701451 ATAxGAT COVERED 84 0.038461538461538464 13 0.026422764227642278 25 0.06906077348066299 0 0.0 46 0.06068601583113457 T 2.073 -0.412503 0.04799 0.021562 0.063488 ENSG00000163565 ENST00000448393 . . . 2.9 -5.25 0.02781 . . . . . T 0.07188 0.0182 . . . 0.09310 N 1 . . . . . . T 0.35076 -0.9803 4 . . . . 4.3666 0.11227 0.0:0.3883:0.3857:0.226 rs11539423 . . . T 88 . . M + 2 0 IFI16 157254894 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.264000 0.02847 -0.631000 0.05560 -0.451000 0.05528 ATG NOVEL IFI16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000090101.3 1 10.526812 KEEP 0 0 0 35 1024 TT 0.999999 0.995082 0 + 4 60 128 0 0 8.161434 62 60 1832 137 ENST00000368131.4 0.060606 0.995084 DARC 0 __UNKNOWN__ __UNKNOWN__ 1 159174123 159174123 __UNKNOWN__ 5'UTR SNP C C T rs3027012 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:159174123C>T ENST00000368122.2 + 0 53 CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_5'UTR NM_002036.3 NP_002027.2 Q16570 ACKR1_HUMAN NA NA chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642) endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888) large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) ACACAGCAAACGTACACAGAG 0.517 NA NA C||| 458 0.0914537 0.0068 0.2262 5008 , , NA 19840 0.0238 NA 0.1779 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA NA ENST00000368122.2:c.-627C>T chr1.hg19:g.159174123C>T NA A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1 hg19 CCDS1183.1 0.02 2.44886 AAAxGTA COVERED NOVEL DARC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090338.2 24 24.979597 KEEP 0 0 0 83 2833 CC 1 1 0 + 7 60 195 0 0 10.86817 130 60 4333 301 ENST00000368122.2 0.051095 1 RC3H1 149041 __UNKNOWN__ __UNKNOWN__ 1 173904884 173904884 __UNKNOWN__ 3'UTR SNP G G T rs724415 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:173904884G>T ENST00000367696.2 - 0 6728 RC3H1_ENST00000258349.4_3'UTR Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 NA NA B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470) cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494) mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 AAATTTTGGGGGTGTTAGTGA 0.363 NA NA G||| 393 0.0784744 0.0091 0.1167 5008 , , NA 16276 0.0278 NA 0.1223 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK093501 CCDS30940.1, CCDS72987.1 1q25.1 2013-01-18 2010-09-15 ENSG00000135870 ENSG00000135870 149041 RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing 29434 protein-coding gene gene with protein product KIAA2025 protein 609424 ring finger and CCCH-type zinc finger domains 1 NA 15917799 Standard NM_172071 XM_005244918 NA Approved KIAA2025, roquin, RP5-1198E17.5, RNF198 uc001gju.4 Q5TC82 OTTHUMG00000037275 ENST00000367696.2:c.*2975C>A chr1.hg19:g.173904884G>T NA B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1 hg19 CCDS30940.1 0.02 3.101204 GGGxGTG COVERED NOVEL RC3H1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090733.2 11 12.339466 KEEP 0 0 0 41 1412 GG 1 0.999995 0 - 7 60 203 0 0 12.4354 100 60 3409 210 ENST00000367696.2 0.065421 0.999995 RC3H1 149041 __UNKNOWN__ __UNKNOWN__ 1 173962153 173962153 __UNKNOWN__ 5'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:173962153A>C ENST00000367696.2 - 0 322 RC3H1_ENST00000258349.4_5'UTR|RC3H1_ENST00000367694.2_5'UTR Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 NA NA B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470) cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494) mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 CACGAACACAAACACACACAC 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 66 66 66 NA NA 1 NA 173962153 2203 4300 6503 SO:0001623 5_prime_UTR_variant AK093501 CCDS30940.1, CCDS72987.1 1q25.1 2013-01-18 2010-09-15 ENSG00000135870 ENSG00000135870 149041 RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing 29434 protein-coding gene gene with protein product KIAA2025 protein 609424 ring finger and CCCH-type zinc finger domains 1 NA 15917799 Standard NM_172071 XM_005244918 NA Approved KIAA2025, roquin, RP5-1198E17.5, RNF198 uc001gju.4 Q5TC82 OTTHUMG00000037275 ENST00000367696.2:c.-30T>G chr1.hg19:g.173962153A>C NA B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1 hg19 CCDS30940.1 0.02 5.949894 ACAxACA COVERED NOVEL RC3H1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090733.2 34 28.585418 KEEP 0 3 106 132 4053 AA 1 1 0 - 13 60 454 2 0 32.73221 129 60 3865 419 ENST00000367696.2 0.091549 1 TNN 63923 __UNKNOWN__ __UNKNOWN__ 1 175049379 175049379 __UNKNOWN__ Missense_Mutation SNP G G A rs16847812 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:175049379G>A ENST00000239462.4 + 4 978 c.865G>A c.(865-867)Gat>Aat p.D289N NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 289 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA D -> N (in dbSNP:rs16847812). axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160) cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGCCAGGTGGATCACTACCT 0.582 NA NA G||| 639 0.127596 0.0053 0.0735 5008 , , NA 17710 0.251 NA 0.1272 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 G ASN/ASP 120,4286 91.1+/-129.8 2,116,2085 68 68 68 865 5.7 1 1 dbSNP_123 68 1287,7313 255.4+/-280.3 85,1117,3098 yes missense TNN NM_022093.1 23 87,1233,5183 AA,AG,GG 14.9651,2.7236,10.8181 benign 289/1300 175049379 1407,11599 2203 4300 6503 SO:0001583 missense AK127044 CCDS30943.1 1q23-q24 2013-02-11 ENSG00000120332 ENSG00000120332 63923 Fibrinogen C domain containing, Fibronectin type III domain containing 22942 protein-coding gene gene with protein product NA NA Standard XM_040527 NM_022093 NA Approved uc001gkl.1 Q9UQP3 OTTHUMG00000034882 ENST00000239462.4:c.865G>A chr1.hg19:g.175049379G>A ENSP00000239462:p.Asp289Asn NA B9EGP3|Q5R360 hg19 CCDS30943.1 0.02 1.710085 GTGxATC COVERED 309 0.14148351648351648 6 0.012195121951219513 29 0.08011049723756906 160 0.27972027972027974 114 0.1503957783641161 G 19.23 3.786596 0.70337 0.027236 0.149651 ENSG00000120332 ENST00000239462;ENST00000539081 T 0.58940 0.3 5.69 5.69 0.88448 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.046701 0.85682 D 0.000000 T 0.00012 0.0000 M 0.87971 2.92 0.20975 P 0.999815479 B;B 0.24675 0.109;0.016 B;B 0.37451 0.25;0.098 T 0.04495 -1.0947 9 0.48119 T 0.1 . 19.4166 0.94703 0.0:0.0:1.0:0.0 rs16847812;rs52834449;rs16847812 289;289 B3KXB6;Q9UQP3 .;TENN_HUMAN N 289 ENSP00000239462:D289N ENSP00000239462:D289N D + 1 0 TNN 173316002 1.000000 0.71417 1.000000 0.80357 0.815000 0.46073 8.072000 0.89496 2.679000 0.91253 0.650000 0.86243 GAT NOVEL TNN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084422.1 1 9.32968 KEEP 0 0 0 31 1069 GG 0.999997 0.99442 0 + 5 60 162 0 0 10.934924 60 60 2038 138 ENST00000239462.4 0.076923 0.994422 PAPPA2 60676 __UNKNOWN__ __UNKNOWN__ 1 176525019 176525019 __UNKNOWN__ 5'UTR SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:176525019T>G ENST00000367662.3 + 0 725 PAPPA2_ENST00000367661.3_5'UTR NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 NA NA bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GAGTGTGTGTTTGTGAGTGTG 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BG354569 CCDS41438.1, CCDS41439.1 1q23-q25 2008-05-23 2004-07-07 2004-07-09 ENSG00000116183 ENSG00000116183 60676 14615 protein-coding gene gene with protein product NA placenta-specific 3 PLAC3 NA 11018262, 11264294 Standard NM_021936 NA Approved PAPPE, PAPP-A2 uc001gkz.3 Q9BXP8 OTTHUMG00000035025 ENST00000367662.3:c.-440T>G chr1.hg19:g.176525019T>G NA A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9 hg19 CCDS41438.1 0.02 -0.420978 TGTxTGT COVERED NOVEL PAPPA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084763.1 10 5.113655 KEEP 0 0 0 17 518 TT 0.999366 0.947801 0 + 3 60 102 0 0 6.877562 41 60 1250 86 ENST00000367662.3 0.068182 0.948402 SOAT1 6646 __UNKNOWN__ __UNKNOWN__ 1 179327058 179327058 __UNKNOWN__ 3'UTR SNP C C T rs372801191 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:179327058C>T ENST00000367619.3 + 0 6078 NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 NA NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) ggcaacagagcgagaccctgt 0.428 NA NA C||| 1 0.000199681 8e-04 0 5008 , , NA 17235 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L21934 CCDS1330.1, CCDS58047.1, CCDS58048.1 1q25 2008-08-26 2008-08-26 ENSG00000057252 ENSG00000057252 6646 2.3.1.26 11177 protein-coding gene gene with protein product acyl-Coenzyme A: cholesterol acyltransferase 102642 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 SOAT, STAT NA 8407899 Standard NM_003101 NM_003101 NA Approved ACAT uc001gml.3 P35610 OTTHUMG00000035253 ENST00000367619.3:c.*4282C>T chr1.hg19:g.179327058C>T NA A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4 hg19 CCDS1330.1 0.02 1.333247 GAGxGAG COVERED NOVEL SOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085286.2 7 13.843039 KEEP 1 0 0 46 1561 CC 1 0.998465 0 + 6 60 174 0 0 11.304435 66 70 2174 169 ENST00000367619.3 0.083333 0.998465 SOAT1 6646 __UNKNOWN__ __UNKNOWN__ 1 179327327 179327327 __UNKNOWN__ 3'UTR SNP C C T rs72717523 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:179327327C>T ENST00000367619.3 + 0 6347 NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 NA NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) GTTAATTTCACGAGTGCATAT 0.274 NA NA C||| 169 0.033746 0.0484 0.0447 5008 , , NA 18099 0 NA 0.0537 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L21934 CCDS1330.1, CCDS58047.1, CCDS58048.1 1q25 2008-08-26 2008-08-26 ENSG00000057252 ENSG00000057252 6646 2.3.1.26 11177 protein-coding gene gene with protein product acyl-Coenzyme A: cholesterol acyltransferase 102642 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 SOAT, STAT NA 8407899 Standard NM_003101 NM_003101 NA Approved ACAT uc001gml.3 P35610 OTTHUMG00000035253 ENST00000367619.3:c.*4551C>T chr1.hg19:g.179327327C>T NA A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4 hg19 CCDS1330.1 0.02 1.368269 TCAxGAG COVERED NOVEL SOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085286.2 3 13.241971 KEEP 0 0 0 44 1495 CC 1 0.997163 0 + 5 60 146 0 0 9.14089 66 60 2243 165 ENST00000367619.3 0.070423 0.997163 AXDND1 126859 __UNKNOWN__ __UNKNOWN__ 1 179348663 179348663 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:179348663C>T ENST00000367618.3 + 6 968 AXDND1_ENST00000457238.2_Intron|AXDND1_ENST00000461179.2_Intron NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 NA NA NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 gctcggtggcccatgcctgta 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 65 67 66 NA NA 1 NA 179348663 2203 4300 6503 SO:0001627 intron_variant BX647935 CCDS30948.1 1q25.2 2011-02-18 2011-02-18 2011-02-18 ENSG00000162779 ENSG00000162779 126859 26564 protein-coding gene gene with protein product NA chromosome 1 open reading frame 125 C1orf125 NA 14702039 Standard NM_144696 NM_144696 NA Approved FLJ32940 uc001gmo.3 Q5T1B0 OTTHUMG00000035266 ENST00000367618.3:c.581+46C>T chr1.hg19:g.179348663C>T NA Q6AWB2|Q96LJ3|Q96M01 hg19 CCDS30948.1 0.02 3.466779 GGCxCAT COVERED NOVEL AXDND1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085312.1 27 15.419506 KEEP 0 2 65 74 2571 CC 1 0.999984 0 + 7 60 221 0 0 14.561338 89 60 3112 250 ENST00000367618.3 0.072917 0.999984 KIAA1614 57710 __UNKNOWN__ __UNKNOWN__ 1 180905352 180905352 __UNKNOWN__ Silent SNP C C T rs3795505 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:180905352C>T ENST00000367588.4 + 5 2362 c.2307C>T c.(2305-2307)agC>agT p.S769S KIAA1614_ENST00000367587.1_Silent_p.S390S NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 769 NA NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 TTACAGAAAGCCACGAGTCCC 0.602 NA NA C||| 1665 0.332468 0.1536 0.4006 5008 , , NA 18104 0.2599 NA 0.4245 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 C 775,3357 80,615,1371 84 90 88 2307 0.8 0 1 dbSNP_107 88 3455,4929 703,2049,1440 no coding-synonymous KIAA1614 NM_020950.1 783,2664,2811 TT,TC,CC 41.2094,18.7561,33.7967 769/1191 180905352 4230,8286 2066 4192 6258 SO:0001819 synonymous_variant AB046834 CCDS41442.1 1q25.3 2008-02-05 ENSG00000135835 ENSG00000135835 57710 29327 protein-coding gene gene with protein product NA NA Standard XM_046531 NM_020950 NA Approved uc001gok.2 Q5VZ46 OTTHUMG00000035183 ENST00000367588.4:c.2307C>T chr1.hg19:g.180905352C>T NA Q5VZ45|Q9HCF8 hg19 CCDS41442.1 0.02 6.265417 AAGxCAC COVERED NOVEL KIAA1614-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085151.1 7 54.475219 KEEP 0 0 0 181 6308 CC 1 1 0 + 8 60 238 0 0 13.050322 193 60 6767 523 ENST00000367588.4 0.039801 1 SWT1 54823 __UNKNOWN__ __UNKNOWN__ 1 185171869 185171869 __UNKNOWN__ Missense_Mutation SNP A A G rs6698109 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:185171869A>G ENST00000367500.4 + 11 1772 c.1607A>G c.(1606-1608)cAc>cGc p.H536R SWT1_ENST00000367501.3_Missense_Mutation_p.H536R NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 536 NA H -> R (in dbSNP:rs6698109). {ECO:0000269|PubMed:15489334}. breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 GAGTTATTACACTTATCTCTG 0.353 NA NA A||| 1380 0.275559 0.2179 0.2464 5008 , , NA 12733 0.1964 NA 0.341 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 A ARG/HIS,ARG/HIS 1090,3316 393.3+/-328.8 138,814,1251 88 89 89 1607,1607 0 0 1 dbSNP_116 89 3038,5562 466.1+/-366.7 551,1936,1813 yes missense,missense SWT1 NM_001105518.1,NM_017673.6 29,29 689,2750,3064 GG,GA,AA 35.3256,24.739,31.7392 benign,benign 536/901,536/901 185171869 4128,8878 2203 4300 6503 SO:0001583 missense AF288392 CCDS1367.1 1q25 2013-08-29 2011-01-24 2011-01-24 ENSG00000116668 ENSG00000116668 54823 16785 protein-coding gene gene with protein product NA chromosome 1 open reading frame 26 C1orf26 NA 11318611, 19127978, 23768067 Standard NM_017673 NM_017673 NA Approved FLJ20121, HsSwt1 uc001grg.4 Q5T5J6 OTTHUMG00000035390 ENST00000367500.4:c.1607A>G chr1.hg19:g.185171869A>G ENSP00000356470:p.His536Arg NA Q8NEK9|Q9BZQ7|Q9NXQ0 hg19 CCDS1367.1 0.02 1.853622 TACxCTT COVERED 615 0.2815934065934066 130 0.26422764227642276 87 0.24033149171270718 140 0.24475524475524477 258 0.3403693931398417 A 7.659 0.684572 0.14973 0.24739 0.353256 ENSG00000116668 ENST00000367501;ENST00000367500 T;T 0.16457 2.34;2.34 5.49 -0.0357 0.13891 . 0.525254 0.22752 N 0.056064 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.49194 -0.8965 9 0.23302 T 0.38 . 4.8888 0.13717 0.5657:0.1491:0.2852:0.0 rs6698109;rs17856891;rs52826833;rs61051695;rs6698109 536 Q5T5J6 SWT1_HUMAN R 536 ENSP00000356471:H536R;ENSP00000356470:H536R ENSP00000356470:H536R H + 2 0 SWT1 183438492 0.844000 0.29557 0.003000 0.11579 0.720000 0.41350 0.715000 0.25822 -0.187000 0.10516 -0.274000 0.10170 CAC NOVEL SWT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085790.1 1 13.838846 KEEP 0 0 0 46 1384 AA 1 0.989542 0 + 4 60 136 0 0 9.100036 57 60 1711 157 ENST00000367500.4 0.065574 0.989542 CFH 3075 __UNKNOWN__ __UNKNOWN__ 1 196715129 196715129 __UNKNOWN__ Splice_Site SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:196715129C>T ENST00000367429.4 + 21 3733 c.3493C>T c.(3493-3495)Cat>Tat p.H1165Y NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1165 Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}. NA complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AAAATGCTTACGTAAGTACTT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 91 85 87 NA NA 1 NA 196715129 2203 4300 6503 SO:0001630 splice_region_variant Y00716 CCDS1385.1 1q32 2014-09-17 2004-08-09 2004-08-12 ENSG00000000971 ENSG00000000971 3075 Complement system 4883 protein-coding gene gene with protein product beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1 134370 H factor 1 (complement) HF, HF1, HF2 NA 2889480, 2963625 Standard NM_000186 NM_000186 NA Approved HUS, FHL1, ARMS1, ARMD4 uc001gtj.4 P08603 OTTHUMG00000035607 ENST00000367429.4:c.3493+1C>T chr1.hg19:g.196715129C>T NA A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86 hg19 CCDS1385.1 0.02 1.014922 TTAxGTA COVERED . . . . . . . . . . . 12.44 1.937523 0.34189 . . ENSG00000000971 ENST00000367429 T 0.47528 0.84 4.97 -0.77 0.11005 Sushi/SCR/CCP (1); . . . . T 0.26195 0.0639 L 0.41236 1.265 0.80722 D 1 D 0.57257 0.979 B 0.30943 0.122 T 0.08146 -1.0736 9 0.62326 D 0.03 . 5.9666 0.19328 0.2947:0.2389:0.4665:0.0 . 1165 P08603 CFAH_HUMAN Y 1165 ENSP00000356399:H1165Y ENSP00000356399:H1165Y H + 1 0 CFH 194981752 0.031000 0.19500 0.123000 0.21794 0.265000 0.26407 -0.164000 0.09983 -0.322000 0.08615 -0.424000 0.05967 CAT NOVEL CFH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086412.2 11 23.172049 KEEP 56 0 0 77 2606 CC 1 0.999962 0 Missense_Mutation + 5 60 150 0 0 8.776452 95 60 3243 299 ENST00000367429.4 0.05 0.999962 CFHR4 10877 __UNKNOWN__ __UNKNOWN__ 1 196887331 196887331 __UNKNOWN__ Intron SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:196887331T>A ENST00000367416.2 + 10 1674 CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 Q92496 FHR4_HUMAN complement factor H-related 4 NA NA lipid transport (GO:0006869) extracellular region (GO:0005576) lipid transporter activity (GO:0005319) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TTTCTTTTTCTGCTTTCAGAT 0.254 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 29 32 31 NA NA 1 NA 196887331 2155 4277 6432 SO:0001627 intron_variant X98337, AJ640130 CCDS41451.1, CCDS55671.1 1q32 2008-02-05 2006-02-28 ENSG00000134365 ENSG00000134365 10877 Complement system 16979 protein-coding gene gene with protein product complement factor H related 4 605337 CFHL4 NA 9038172, 10380701 Standard NM_006684 NM_001201551 NA Approved FHR-4, FHR4 Q92496 OTTHUMG00000036647 ENST00000367416.2:c.1538-9T>A chr1.hg19:g.196887331T>A NA A8K9N7|B1ALQ9|C9J7J7|Q5DVJ7|Q9UJY6 hg19 CCDS55671.1 0.02 -0.219287 TTCxGCT COVERED NOVEL CFHR4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000472471.1 2 5.416386 KEEP 0 0 0 18 568 TT 0.999859 0.55281 0 + 3 60 96 0 0 7.164981 20 60 619 67 ENST00000367416.2 0.130435 0.552887 ASPM 259266 __UNKNOWN__ __UNKNOWN__ 1 197073932 197073932 __UNKNOWN__ Silent SNP T T C rs2878749 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:197073932T>C ENST00000367409.4 - 18 4705 c.4449A>G c.(4447-4449)aaA>aaG p.K1483K ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1483 NA developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TATAAATATATTTCCGTAATT 0.289 NA NA T||| 1074 0.214457 0.0431 0.2262 5008 , , NA 17830 0.1647 NA 0.4115 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 T , 463,3941 194.7+/-219.5 32,399,1771 51 52 52 ,4449 -2.4 0 1 dbSNP_101 52 3724,4860 518.5+/-379.3 813,2098,1381 no intron,coding-synonymous ASPM NM_001206846.1,NM_018136.4 , 845,2497,3152 CC,CT,TT 43.383,10.5132,32.2374 , ,1483/3478 197073932 4187,8801 2202 4292 6494 SO:0001819 synonymous_variant AY367065 CCDS1389.1, CCDS55672.1 1q31 2008-02-05 2006-09-12 ENSG00000066279 ENSG00000066279 259266 19048 protein-coding gene gene with protein product 605481 microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila) MCPH5 NA 11078481 Standard NM_018136 NM_018136 NA Approved Calmbp1, ASP, FLJ10517, FLJ10549 uc001gtu.3 Q8IZT6 OTTHUMG00000036277 ENST00000367409.4:c.4449A>G chr1.hg19:g.197073932T>C NA Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6 hg19 CCDS1389.1 0.02 -0.403452 ATAxTTC COVERED NOVEL ASPM-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000088256.1 1 6.920288 KEEP 0 0 0 23 710 TT 0.999892 0.94164 0 - 4 60 135 0 0 9.509025 42 60 1277 95 ENST00000367409.4 0.086957 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 197480927 197480927 __UNKNOWN__ IGR SNP C C T rs12142127 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:197480927C>T NA NA CRB1 (33342 upstream) : DENND1B (40457 downstream) NA NA NA CCAGCTTCCCCTGATCTGAGC 0.383 NA NA C||| 1150 0.229633 0.1415 0.2622 5008 , , NA 15737 0.2212 NA 0.3062 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 C 729,3677 297.8+/-285.0 61,607,1535 96 95 96 1746 -0.8 1 1 dbSNP_120 96 2910,5690 450.7+/-362.5 500,1910,1890 no coding-synonymous DENND1B NM_001195215.1 561,2517,3425 TT,TC,CC 33.8372,16.5456,27.9794 582/776 197480927 3639,9367 2203 4300 6503 SO:0001628 intergenic_variant NA NA NA NA NA chr1.hg19:g.197480927C>T NA hg19 0.02 1.502482 CCCxTGA COVERED NOVEL 0 6 13.845074 KEEP 0 0 0 46 1632 CC 1 0.995084 0 6 60 185 0 0 12.636563 60 60 2120 160 0.090909 0.995084 C1orf53 388722 __UNKNOWN__ __UNKNOWN__ 1 197874949 197874949 __UNKNOWN__ Silent SNP T T C rs2270763 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:197874949T>C ENST00000367393.3 + 2 291 c.288T>C c.(286-288)gaT>gaC p.D96D C1orf53_ENST00000542800.1_3'UTR NM_001024594.2 NP_001019765.1 Q5VUE5 CA053_HUMAN chromosome 1 open reading frame 53 96 NA endometrium(1)|lung(1) 2 ACTATGTGGATCCAGCTACTG 0.408 NA NA T||| 1801 0.359625 0.4123 0.3948 5008 , , NA 18098 0.2619 NA 0.3668 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 T 1591,2363 339,913,725 160 151 154 288 -0.9 1 1 dbSNP_100 154 2921,5421 512,1897,1762 no coding-synonymous C1orf53 NM_001024594.2 851,2810,2487 CC,CT,TT 35.0156,40.2377,36.6949 96/146 197874949 4512,7784 1977 4171 6148 SO:0001819 synonymous_variant BC038214 CCDS44290.1 1q31.3 2011-01-26 ENSG00000203724 ENSG00000203724 388722 30003 protein-coding gene gene with protein product NA NA 15897902 Standard NM_001024594 NM_001024594 NA Approved uc001guh.3 Q5VUE5 OTTHUMG00000035659 ENST00000367393.3:c.288T>C chr1.hg19:g.197874949T>C NA A1L4N2|Q5VUE4 hg19 CCDS44290.1 0.02 1.856785 GGAxCCA COVERED 735 0.33653846153846156 187 0.3800813008130081 151 0.4171270718232044 139 0.243006993006993 258 0.3403693931398417 T 8.716 0.913213 0.17907 0.402377 0.350156 ENSG00000203724 ENST00000436652 . . . 5.73 -0.891 0.10573 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999697 . . . . . . T 0.43376 -0.9395 3 . . . -2.0025 11.3485 0.49575 0.0:0.4741:0.0:0.5259 rs2270763;rs61130784;rs2270763 . . . P 33 . . S + 1 0 C1orf53 196141572 0.993000 0.37304 0.968000 0.41197 0.989000 0.77384 0.140000 0.16056 -0.399000 0.07668 -0.290000 0.09829 TCC NOVEL C1orf53-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086555.1 1 9.025191 KEEP 0 0 0 30 901 TT 0.999997 0.99755 0 + 4 60 135 0 0 8.7552 66 60 1972 139 ENST00000367393.3 0.057143 0.997553 KIF14 9928 __UNKNOWN__ __UNKNOWN__ 1 200521412 200521412 __UNKNOWN__ 3'UTR SNP G G A rs12060793 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:200521412G>A ENST00000367350.4 - 0 6489 NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 NA NA ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165) NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 AACTATTTCCGTAATGTAAGA 0.294 NA NA T||| 2724 0.54393 0.4834 0.5 5008 , , NA 15090 0.631 NA 0.493 False NA ,,, NA NA NA 2504 0.6196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D26361 CCDS30963.1 1q32.1 2008-03-03 ENSG00000118193 ENSG00000118193 9928 Kinesins 19181 protein-coding gene gene with protein product 611279 NA 7584044 Standard NM_014875 NM_014875 NA Approved KIAA0042 uc010ppk.1 Q15058 OTTHUMG00000035723 ENST00000367350.4:c.*1104C>T chr1.hg19:g.200521412G>A NA Q14CI8|Q4G0A5|Q5T1W3 hg19 CCDS30963.1 0.02 1.4209 TCCxTAA COVERED NOVEL KIF14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086878.1 3 4.949602 KEEP 0 1 30 27 907 GG 0.999997 0.9937 0 - 6 60 180 0 0 12.179677 59 60 1997 140 ENST00000367350.4 0.092308 0.993703 RABIF 5877 __UNKNOWN__ __UNKNOWN__ 1 202848424 202848424 __UNKNOWN__ 3'UTR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:202848424G>C ENST00000367262.3 - 0 2090 NM_002871.4 NP_002862.2 P47224 MSS4_HUMAN RAB interacting factor NA NA membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270) large_intestine(1)|lung(2)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(75;0.166) cctcccacctgagcctcccaa 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant S78873 CCDS1428.1 1q32.1 2008-05-14 ENSG00000183155 ENSG00000183155 5877 9797 protein-coding gene gene with protein product 603417 RASGRF3 NA 9441742, 7619808 Standard NM_002871 NA Approved mss4 uc001gyl.3 P47224 OTTHUMG00000041400 ENST00000367262.3:c.*1682C>G chr1.hg19:g.202848424G>C NA B2R4P4|Q92992 hg19 CCDS1428.1 0.02 1.70432 CCTxAGC COVERED NOVEL RABIF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099183.1 24 8.161318 KEEP 0 1 31 38 1332 GG 1 0.99911 0 - 4 60 134 1 0 8.654835 66 60 2281 162 ENST00000367262.3 0.057143 0.99911 PIK3C2B 5287 __UNKNOWN__ __UNKNOWN__ 1 204403659 204403659 __UNKNOWN__ Silent SNP A A G rs3747636 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:204403659A>G ENST00000367187.3 - 25 4150 c.3594T>C c.(3592-3594)aaT>aaC p.N1198N PIK3C2B_ENST00000424712.2_Silent_p.N1170N|RP11-739N20.2_ENST00000443515.1_RNA NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1198 PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}. NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TGATGTTGTCATTATGTCGGT 0.537 NA NA G||| 2028 0.404952 0.525 0.2666 5008 , , NA 23776 0.5089 NA 0.2594 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 G 2104,2302 601.4+/-389.7 495,1114,594 92 71 78 3594 -7.8 0.4 1 dbSNP_107 78 1876,6724 728.1+/-406.7 189,1498,2613 no coding-synonymous PIK3C2B NM_002646.3 684,2612,3207 GG,GA,AA 21.814,47.7531,30.6013 1198/1635 204403659 3980,9026 2203 4300 6503 SO:0001819 synonymous_variant Y11312 CCDS1446.1 1q32 2012-07-13 2012-07-13 ENSG00000133056 ENSG00000133056 5287 2.7.1.154 8972 protein-coding gene gene with protein product 602838 phosphoinositide-3-kinase, class 2, beta polypeptide NA 9144573, 9830063 Standard NM_002646 NM_002646 NA Approved C2-PI3K, PI3K-C2beta uc001haw.3 O00750 OTTHUMG00000036101 ENST00000367187.3:c.3594T>C chr1.hg19:g.204403659A>G NA O95666|Q5SW99 hg19 CCDS1446.1 0.02 1.734099 GTCxTTA COVERED NOVEL PIK3C2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087965.1 2 17.750066 KEEP 0 0 0 59 1765 AA 1 0.999678 0 - 4 60 139 0 0 8.7875 82 60 2387 208 ENST00000367187.3 0.046512 0.999678 MDM4 4194 __UNKNOWN__ __UNKNOWN__ 1 204521166 204521166 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:204521166A>G ENST00000367182.3 + 0 3991 MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN MDM4, p53 regulator NA NA cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821) nucleus (GO:0005634) enzyme binding (GO:0019899)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) tgtaatcccaacactttggga 0.418 NA NA A GBM, bladder, retinoblastoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 1 1q32 4194 Mdm4 p53 binding protein homolog M 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF007111 CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1 1q32 2014-03-03 2014-03-03 ENSG00000198625 ENSG00000198625 4194 6974 protein-coding gene gene with protein product 602704 mouse double minute 4, human homolog of; p53-binding protein, Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse), Mdm4 p53 binding protein homolog (mouse) NA 9226370, 14660608 Standard NM_002393 NM_002393 NA Approved MDMX, HDMX uc001hba.3 O15151 OTTHUMG00000035877 ENST00000367182.3:c.*2356A>G chr1.hg19:g.204521166A>G NA Q2M2Y2|Q32SL2|Q6GS18|Q8IV83 hg19 CCDS1447.1 0.02 1.672741 CCAxCAC COVERED NOVEL MDM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087415.2 23 14.139086 KEEP 0 0 0 47 1370 AA 1 0.999895 0 + 4 60 139 0 0 8.983463 73 60 2110 204 ENST00000367182.3 0.051948 0.999895 LRRN2 10446 __UNKNOWN__ __UNKNOWN__ 1 204589844 204589844 __UNKNOWN__ 5'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:204589844A>G ENST00000367175.1 - 0 1489 LRRN2_ENST00000367177.3_Intron|LRRN2_ENST00000496057.1_Intron|LRRN2_ENST00000367176.3_Intron O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 NA NA cell adhesion (GO:0007155)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) receptor activity (GO:0004872) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) AGGAAGgtgtatgtgtgtgta 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF030435 CCDS1448.1 1q32.1 2013-01-11 2007-01-31 2007-01-31 ENSG00000170382 ENSG00000170382 10446 Immunoglobulin superfamily / I-set domain containing 16914 protein-coding gene gene with protein product leucine rich and ankyrin repeats 1, fibronectin type III, immunoglobulin and leucine rich repeat domain 7 605492 leucine rich repeat neuronal 5 LRRN5 NA 9662332 Standard NM_006338 NM_006338 NA Approved GAC1, LRANK1, FIGLER7 uc001hbf.1 O75325 OTTHUMG00000035989 ENST00000367175.1:c.-724T>C chr1.hg19:g.204589844A>G NA B2R624|Q5T0Y0|Q6UXM0|Q8N182 hg19 CCDS1448.1 0.02 1.818638 TGTxTGT COVERED NOVEL LRRN2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089894.1 14 5.715373 KEEP 0 0 0 19 542 AA 0.99986 0.993563 0 - 4 60 141 0 0 9.721411 53 60 1475 110 ENST00000367175.1 0.070175 0.993703 DSTYK 25778 __UNKNOWN__ __UNKNOWN__ 1 205112494 205112494 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:205112494C>T ENST00000367162.3 - 0 7012 DSTYK_ENST00000367161.3_3'UTR|DSTYK_ENST00000367160.4_3'UTR NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase NA NA cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 aggctggtctcgaactcctga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF068286 CCDS1451.1, CCDS1452.1 1q32 2008-12-18 2008-12-18 2008-12-18 ENSG00000133059 ENSG00000133059 25778 29043 protein-coding gene gene with protein product 612666 receptor interacting protein kinase 5 RIPK5 NA 15178406 Standard NM_015375 NM_015375 NA Approved KIAA0472, DustyPK, RIP5 uc001hbw.3 Q6XUX3 OTTHUMG00000037102 ENST00000367162.3:c.*4192G>A chr1.hg19:g.205112494C>T NA B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5 hg19 CCDS1451.1 0.02 -0.289487 TCTxGAA COVERED NOVEL DSTYK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090345.1 9 4.815414 KEEP 0 0 0 16 541 CC 0.997832 0.759237 0 - 3 60 93 1 0 6.40998 29 60 968 70 ENST00000367162.3 0.09375 0.760887 C1orf147 574431 __UNKNOWN__ __UNKNOWN__ 1 206664655 206664655 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:206664655G>A ENST00000367119.1 - 0 1889 IKBKE_ENST00000537984.1_Intron|IKBKE_ENST00000367120.3_Intron Q96MC9 CA147_HUMAN chromosome 1 open reading frame 147 NA NA central_nervous_system(1) 1 ACACACACACGCACTCACACA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057159 1q32.1 2012-04-19 ENSG00000162888 ENSG00000162888 574431 32061 protein-coding gene gene with protein product NA NA Standard NA Approved FLJ32597 Q96MC9 OTTHUMG00000036338 ENST00000367119.1:c.*1066C>T chr1.hg19:g.206664655G>A NA Q5JTS5 hg19 0.02 7.031301 CACxCAC COVERED NOVEL C1orf147-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000088457.1 45 29.876633 KEEP 0 9 251 188 6346 GG 1 1 0 - 16 60 464 0 0 28.080178 240 60 8125 670 ENST00000367119.1 0.0625 1 C1orf147 574431 __UNKNOWN__ __UNKNOWN__ 1 206664659 206664659 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:206664659T>A ENST00000367119.1 - 0 1885 IKBKE_ENST00000537984.1_Intron|IKBKE_ENST00000367120.3_Intron Q96MC9 CA147_HUMAN chromosome 1 open reading frame 147 NA NA central_nervous_system(1) 1 ACACACGCACTCACACACCTT 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057159 1q32.1 2012-04-19 ENSG00000162888 ENSG00000162888 574431 32061 protein-coding gene gene with protein product NA NA Standard NA Approved FLJ32597 Q96MC9 OTTHUMG00000036338 ENST00000367119.1:c.*1062A>T chr1.hg19:g.206664659T>A NA Q5JTS5 hg19 0.02 6.987035 CACxCAC COVERED NOVEL C1orf147-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000088457.1 44 36.671639 KEEP 0 6 176 184 5612 TT 1 1 0 - 11 60 311 0 0 16.736808 243 60 7374 638 ENST00000367119.1 0.043307 1 YOD1 55432 __UNKNOWN__ __UNKNOWN__ 1 207217359 207217359 __UNKNOWN__ 3'UTR SNP T T C rs1044145 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:207217359T>C ENST00000315927.4 - 0 6099 YOD1_ENST00000391927.1_3'UTR|YOD1_ENST00000367084.1_3'UTR NM_018566.3 NP_061036.3 Q5VVQ6 OTU1_HUMAN YOD1 deubiquitinase NA NA cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536) Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843) cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3) 11 Prostate(682;0.19) AGCAGCAGTGTATTACTTCAA 0.313 NA NA C||| 2665 0.532149 0.8533 0.5014 5008 , , NA 19625 0.2411 NA 0.5835 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31002.1, CCDS60402.1 1q32.2 2013-06-04 2013-06-04 ENSG00000180667 ENSG00000180667 55432 OTU domain containing 25035 protein-coding gene gene with protein product 612023 YOD1 OTU deubiquinating enzyme 1 homolog ( yeast), YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) NA Standard NM_018566 NM_001276320 NA Approved DKFZp451J1719, OTUD2, DUBA8 uc001hfe.1 Q5VVQ6 OTTHUMG00000036032 ENST00000315927.4:c.*5006A>G chr1.hg19:g.207217359T>C NA B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8 hg19 CCDS31002.1 0.02 3.821258 GTGxATT COVERED NOVEL YOD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087837.1 3 20.456307 KEEP 0 0 0 68 1998 TT 1 0.999992 0 - 6 60 203 0 0 13.081201 103 60 3047 242 ENST00000315927.4 0.055046 0.999992 CR1 1378 __UNKNOWN__ __UNKNOWN__ 1 207679229 207679229 __UNKNOWN__ Intron SNP T T G rs4844599 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:207679229T>G ENST00000367049.4 + 2 121 CR1_ENST00000367053.1_Intron|CR1_ENST00000367050.4_Intron|CR1_ENST00000400960.2_Intron|CR1_ENST00000367051.1_Intron|CR1_ENST00000367052.1_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) NA NA complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTGATGCTTCTATGGTCTT 0.448 NA NA G||| 1360 0.271565 0.1467 0.2709 5008 , , NA 21312 0.3036 NA 0.1839 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 G , 591,3143 46,499,1322 114 105 108 , -8.1 0 1 dbSNP_111 108 1535,6661 128,1279,2691 no intron,intron CR1 NM_000573.3,NM_000651.4 , 174,1778,4013 GG,GT,TT 18.7286,15.8275,17.8206 , , 207679229 2126,9804 1867 4098 5965 SO:0001627 intron_variant Y00816 CCDS44308.1, CCDS44309.1 1q32 2014-07-19 2006-01-12 ENSG00000203710 ENSG00000203710 1378 CD molecules, Blood group antigens, Complement system 2334 protein-coding gene gene with protein product 120620 complement component (3b/4b) receptor 1, including Knops blood group system NA 1708809 Standard NM_000573 XM_005273064 NA Approved CD35, KN uc001hfx.3 P17927 OTTHUMG00000036311 ENST00000367049.4:c.122-20T>G chr1.hg19:g.207679229T>G NA Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2 hg19 CCDS44308.1 0.02 4.014953 GCTxCTA COVERED NOVEL CR1-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382527.1 32 23.131066 KEEP 0 0 0 77 2351 TT 1 0.999999 0 + 7 60 255 0 0 17.36193 109 60 3365 269 ENST00000367049.4 0.060345 0.999999 LPGAT1 9926 __UNKNOWN__ __UNKNOWN__ 1 211919937 211919937 __UNKNOWN__ 3'UTR SNP T T C rs3795834 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:211919937T>C ENST00000366997.4 - 0 4643 NM_014873.2 NP_055688.1 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity, transferring acyl groups (GO:0016746) breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) AGATTATCTATCCAGAAAGTA 0.289 NA NA T||| 2448 0.488818 0.5408 0.4467 5008 , , NA 17417 0.75 NA 0.2714 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D86960 CCDS31018.1 1q32.3 2008-05-14 2004-11-25 2004-11-26 ENSG00000123684 ENSG00000123684 9926 28985 protein-coding gene gene with protein product 610473 family with sequence similarity 34, member A FAM34A NA 9039502, 15485873 Standard NM_014873 NM_014873 NA Approved KIAA0205, FAM34A1, NET8 uc001hiv.3 Q92604 OTTHUMG00000037120 ENST00000366997.4:c.*3304A>G chr1.hg19:g.211919937T>C NA Q53YL2 hg19 CCDS31018.1 0.02 -0.315733 CTAxCCA COVERED NOVEL LPGAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090150.1 3 5.717518 KEEP 0 0 0 19 604 TT 0.99986 0.81835 0 - 4 60 136 0 0 10.108427 31 60 953 76 ENST00000366997.4 0.114286 0.818465 CENPF 1063 __UNKNOWN__ __UNKNOWN__ 1 214813560 214813560 __UNKNOWN__ Missense_Mutation SNP G G A rs555088086 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:214813560G>A ENST00000366955.3 + 12 2047 c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 0 NA cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493) chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922) chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGTGAAAACGAAAAACTTTT 0.323 NA NA G||| 1 0.000199681 0 0 5008 , , NA 18145 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Colon(80;575 1284 11000 14801 43496) NA 0 32 36 35 NA NA 1 NA 214813560 2202 4297 6499 SO:0001583 missense U30872 CCDS31023.1 1q41 2013-11-05 2013-01-17 ENSG00000117724 ENSG00000117724 1063 1857 protein-coding gene gene with protein product mitosin 600236 centromere protein F, 350/400kDa (mitosin) NA 7904902, 7851898 Standard NM_016343 NM_016343 NA Approved hcp-1 uc001hkm.3 P49454 OTTHUMG00000036955 ENST00000366955.3:c.1879G>A chr1.hg19:g.214813560G>A ENSP00000355922:p.Glu627Lys NA Q13171|Q13246|Q5VVM7 hg19 CCDS31023.1 0.02 -0.429813 AACxAAA COVERED . . . . . . . . . . G 22.0 4.225469 0.79576 . . ENSG00000117724 ENST00000366955 T 0.09817 2.94 5.6 5.6 0.85130 . 0.000000 0.38005 N 0.001846 T 0.32376 0.0827 . . . 0.58432 D 0.999998 D 0.89917 1.0 D 0.69142 0.962 T 0.00468 -1.1721 9 0.35671 T 0.21 . 19.6202 0.95653 0.0:0.0:1.0:0.0 . 627 P49454 CENPF_HUMAN K 627 ENSP00000355922:E627K ENSP00000355922:E627K E + 1 0 CENPF 212880183 1.000000 0.71417 0.879000 0.34478 0.778000 0.44026 6.364000 0.73086 2.631000 0.89168 0.543000 0.68304 GAA NOVEL CENPF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089749.1 2 6.921456 KEEP 0 0 0 23 750 GG 0.999892 0.954388 0 + 4 60 117 0 0 7.635314 44 60 1417 97 ENST00000366955.3 0.083333 0.954491 USH2A 7399 __UNKNOWN__ __UNKNOWN__ 1 215916664 215916664 __UNKNOWN__ Silent SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:215916664G>A ENST00000307340.3 - 59 11789 c.11403C>T c.(11401-11403)ccC>ccT p.P3801P USH2A_ENST00000366943.2_Silent_p.P3801P NM_206933.2 NP_996816 O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3801 Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171) collagen binding (GO:0005518)|myosin binding (GO:0017022) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAGGAATTTCGGGGATGAGGA 0.393 NA NA HNSCC(13;0.011) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 92 87 89 NA NA 1 NA 215916664 2203 4300 6503 SO:0001819 synonymous_variant AF055580 CCDS1516.1, CCDS31025.1 1q41 2013-02-11 ENSG00000042781 ENSG00000042781 7399 Fibronectin type III domain containing 12601 protein-coding gene gene with protein product usherin 608400 USH2 NA 9624053, 10729113 Standard NM_007123 NM_007123 NA Approved RP39 uc001hku.1 O75445 OTTHUMG00000037079 ENST00000307340.3:c.11403C>T chr1.hg19:g.215916664G>A NA Q5VVM9|Q6S362|Q9NS27 hg19 CCDS31025.1 0.02 1.473553 TTCxGGG COVERED NOVEL USH2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128138.1 8 10.232201 KEEP 0 0 0 34 1119 GG 0.999998 0.986152 0 - 4 60 122 0 0 7.793293 54 70 1787 136 ENST00000307340.3 0.068966 0.986153 RRP15 51018 __UNKNOWN__ __UNKNOWN__ 1 218511041 218511041 __UNKNOWN__ 3'UTR SNP A A C rs952817 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:218511041A>C ENST00000366932.3 + 0 7487 NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) NA NA mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) TATATTGAGAAAAATGATCCT 0.279 NA NA A||| 1293 0.258187 0.0113 0.2565 5008 , , NA 16184 0.3353 NA 0.3738 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1520.2 1q41 2008-02-05 ENSG00000067533 ENSG00000067533 51018 24255 protein-coding gene gene with protein product 611193 KIAA0507 KIAA0507 NA 15769876 Standard NM_016052 NM_016052 NA Approved CGI-115 uc001hlj.3 Q9Y3B9 OTTHUMG00000039494 ENST00000366932.3:c.*6608A>C chr1.hg19:g.218511041A>C NA hg19 CCDS1520.2 0.02 1.830507 AGAxAAA COVERED NOVEL RRP15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095284.1 1 8.725025 KEEP 0 0 0 29 881 AA 0.999997 0.998462 0 + 4 60 137 0 0 8.83093 71 60 2119 150 ENST00000366932.3 0.053333 0.998465 IARS2 55699 __UNKNOWN__ __UNKNOWN__ 1 220321023 220321023 __UNKNOWN__ 3'UTR SNP A A G rs11095 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:220321023A>G ENST00000366922.1 + 0 3200 IARS2_ENST00000302637.5_3'UTR Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial NA NA gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822) NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) AGTACTGGCTAGAAGTTTGGA 0.408 NA NA A||| 635 0.126797 0.0182 0.2493 5008 , , NA 16497 0.1329 NA 0.1541 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 A 211,4195 131.0+/-167.6 2,207,1994 38 37 37 -7.8 0 1 dbSNP_52 37 1572,7028 292.7+/-301.0 149,1274,2877 no utr-3 IARS2 NM_018060.3 151,1481,4871 GG,GA,AA 18.2791,4.7889,13.7091 220321023 1783,11223 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK022665 CCDS1523.1 1q41 2011-07-01 2007-02-26 ENSG00000067704 ENSG00000067704 55699 6.1.1.5 Aminoacyl tRNA synthetases / Class I 29685 protein-coding gene gene with protein product isoleucine tRNA ligase 2, mitochondrial 612801 NA Standard NM_018060 NM_018060 NA Approved FLJ10326 uc001hmc.3 Q9NSE4 OTTHUMG00000037287 ENST00000366922.1:c.*46A>G chr1.hg19:g.220321023A>G NA B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42 hg19 0.02 3.822096 GCTxGAA COVERED NOVEL IARS2-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000090761.1 16 27.980896 KEEP 0 0 0 93 2844 AA 1 1 0 + 5 60 176 0 0 10.593182 137 60 4110 339 ENST00000366922.1 0.035211 1 MIA3 375056 __UNKNOWN__ __UNKNOWN__ 1 222838256 222838256 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:222838256C>T ENST00000344922.5 + 28 5438 MIA3_ENST00000340535.7_Intron|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 NA NA chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) cagtggctcacgcctgtaatc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41470.1, CCDS73035.1 1p36.33 2012-12-13 2006-07-25 ENSG00000154305 ENSG00000154305 375056 24008 protein-coding gene gene with protein product C219 reactive peptide, transport and golgi organization 613455 NA 15183315 Standard NM_198551 XM_005273121 NA Approved UNQ6077, FLJ39207, KIAA0268, TANGO uc001hnl.3 Q5JRA6 OTTHUMG00000037543 ENST00000344922.5:c.5414-395C>T chr1.hg19:g.222838256C>T NA A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580 hg19 CCDS41470.1 0.02 -0.43859 TCAxGCC COVERED . . . . . . . . . . C 0.709 -0.787940 0.02884 . . ENSG00000154305 ENST00000450260 . . . 0.886 -1.77 0.07982 . . . . . T 0.18509 0.0444 . . . 0.09310 N 1 . . . . . . T 0.19943 -1.0290 4 . . . . 0.1543 0.00096 0.2487:0.2588:0.2484:0.2441 . . . . C 100 . . R + 1 0 MIA3 220904879 0.003000 0.15002 0.000000 0.03702 0.066000 0.16364 -0.100000 0.10990 -1.815000 0.01222 -0.680000 0.03767 CGC NOVEL MIA3-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091489.4 6 7.522301 KEEP 0 0 0 25 791 CC 0.999931 0.959793 0 + 4 60 123 0 0 8.233678 44 60 1425 93 ENST00000344922.5 0.083333 0.959859 RP11-504P24.6 0 __UNKNOWN__ __UNKNOWN__ 1 224196666 224196666 __UNKNOWN__ lincRNA SNP G G C rs2933468 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:224196666G>C ENST00000572124.1 + 0 238 RP11-504P24.4_ENST00000540997.1_lincRNA NA NA NA TGCCCAAAGGGTGGGGTGTTC 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000572124.1: chr1.hg19:g.224196666G>C NA hg19 0.02 1.675691 AGGxTGG COVERED NOVEL RP11-504P24.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000436999.1 5 3.245562 KEEP 4 1 32 22 767 GG 0.999892 0.996616 0 + 9 47 288 0 0 21.440793 61 60 2044 130 ENST00000572124.1 0.128571 0.996724 ZNF678 339500 __UNKNOWN__ __UNKNOWN__ 1 227843156 227843156 __UNKNOWN__ Missense_Mutation SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:227843156T>A ENST00000343776.5 + 4 1550 c.1205T>A c.(1204-1206)gTg>gAg p.V402E ZNF678_ENST00000397097.3_Missense_Mutation_p.V457E|ZNF678_ENST00000608949.1_Intron NM_178549.3 NP_848644.2 Q5SXM1 ZN678_HUMAN zinc finger protein 678 402 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) CATACTGGAGTGAAACCCTAC 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 35 38 37 NA NA 1 NA 227843156 2202 4298 6500 SO:0001583 missense BC042500 1q42.13 2013-01-08 ENSG00000181450 ENSG00000181450 339500 Zinc fingers, C2H2-type, - 28652 protein-coding gene gene with protein product hypothetical protein MGC42493 NA NA 12477932 Standard NM_178549 NM_178549 NA Approved MGC42493 uc021pjy.1 Q5SXM1 OTTHUMG00000037700 ENST00000343776.5:c.1205T>A chr1.hg19:g.227843156T>A ENSP00000344828:p.Val402Glu NA Q8IVQ9 hg19 0.02 4.416182 GAGxGAA COVERED . . . . . . . . . . T 0.011 -1.697113 0.00725 . . ENSG00000181450 ENST00000343776;ENST00000397097 T;T 0.11063 2.81;2.81 1.63 -3.09 0.05331 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.01800 0.0057 N 0.00563 -1.375 0.21579 N 0.999637 B 0.14805 0.011 B 0.12837 0.008 T 0.37502 -0.9703 9 0.02654 T 1 . 2.6672 0.05056 0.6034:0.0:0.1667:0.2298 . 402 Q5SXM1 ZN678_HUMAN E 402;457 ENSP00000344828:V402E;ENSP00000440403:V457E ENSP00000344828:V402E V + 2 0 ZNF678 225909779 0.999000 0.42202 0.003000 0.11579 0.003000 0.03518 2.239000 0.43079 -0.912000 0.03837 -1.558000 0.00888 GTG NOVEL ZNF678-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000091976.2 28 9.290849 KEEP 0 2 63 53 1561 TT 1 1 0 + 7 60 201 0 0 11.25016 140 60 4118 276 ENST00000343776.5 0.047619 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228494790 228494790 __UNKNOWN__ Missense_Mutation SNP G G A rs435776 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:228494790G>A ENST00000570156.2 + 56 15060 c.14986G>A c.(14986-14988)Gga>Aga p.G4996R OBSCN_ENST00000284548.11_Missense_Mutation_p.G4039R|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1158R|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4039R|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1673R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4039 NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGGTACGCGGAGTGGAGCA 0.642 NA NA G||| 1345 0.26857 0.0605 0.3775 5008 , , NA 18993 0.249 NA 0.4841 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 G ARG/GLY,ARG/GLY 513,3873 42,429,1722 66 79 74 12115,12115 0.3 0 1 dbSNP_80 74 4232,4336 1070,2092,1122 yes missense,missense OBSCN NM_001098623.1,NM_052843.2 125,125 1112,2521,2844 AA,AG,GG 49.3931,11.6963,36.6296 probably-damaging,probably-damaging 4039/7969,4039/6621 228494790 4745,8209 2193 4284 6477 SO:0001583 missense AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.14986G>A chr1.hg19:g.228494790G>A ENSP00000455507:p.Gly4996Arg NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 2.839685 CGCxGAG COVERED 663 0.30357142857142855 35 0.07113821138211382 136 0.3756906077348066 134 0.23426573426573427 358 0.47229551451187335 G 10.99 1.506355 0.26949 0.116963 0.493931 ENSG00000154358 ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709 T;T;T;T 0.04654 3.58;3.58;3.58;3.58 5.81 0.336 0.15958 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.527305 0.18679 N 0.134218 T 0.00012 0.0000 L 0.37630 1.12 0.80722 P 0.0 P;B 0.43578 0.811;0.058 B;B 0.34652 0.187;0.012 T 0.34403 -0.9830 9 0.15066 T 0.55 . 7.3643 0.26764 0.325:0.1044:0.5706:0.0 rs435776;rs61021469;rs435776 4039;4039 Q5VST9;Q5VST9-3 OBSCN_HUMAN;. R 4039;4039;1673;1158 ENSP00000284548:G4039R;ENSP00000409493:G4039R;ENSP00000355668:G1673R;ENSP00000355670:G1158R ENSP00000284548:G4039R G + 1 0 OBSCN 226561413 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.390000 0.07332 -0.169000 0.10834 0.462000 0.41574 GGA NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 1 16.551888 KEEP 0 0 0 55 1850 GG 1 0.999998 0 + 6 60 183 0 0 10.853067 113 60 3738 241 ENST00000570156.2 0.05042 0.999998 PCNXL2 80003 __UNKNOWN__ __UNKNOWN__ 1 233193442 233193442 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:233193442T>C ENST00000258229.9 - 24 4311 PCNXL2_ENST00000344698.2_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) agtgtgaaactccatctctac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055374 CCDS44335.1 1q42.2 2008-02-05 2001-11-28 ENSG00000135749 ENSG00000135749 80003 8736 protein-coding gene gene with protein product NA pecanex (Drosophila)-like 2 NA 12477932 Standard NM_014801 NM_014801 NA Approved KIAA0435, FLJ11383 uc001hvl.2 A6NKB5 OTTHUMG00000037824 ENST00000258229.9:c.4077-406A>G chr1.hg19:g.233193442T>C NA O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8 hg19 CCDS44335.1 0.02 5.619553 AACxCCA COVERED NOVEL PCNXL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092480.3 60 27.718901 KEEP 1 1 37 105 3350 TT 1 1 0 - 8 60 268 0 0 16.37968 174 60 5554 409 ENST00000258229.9 0.043956 1 RBM34 23029 __UNKNOWN__ __UNKNOWN__ 1 235294554 235294554 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:235294554A>G ENST00000408888.3 - 0 1997 RBM34_ENST00000366606.3_3'UTR P42696 RBM34_HUMAN RNA binding motif protein 34 NA NA nucleolus (GO:0005730)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) gggtgcagtgactcacgcctg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS41477.1, CCDS41477.2 1q42.3 2013-02-12 ENSG00000188739 ENSG00000188739 23029 RNA binding motif (RRM) containing 28965 protein-coding gene gene with protein product NA NA 7788527, 15134903 Standard NM_015014 NM_015014 NA Approved KIAA0117 uc001hwn.3 P42696 OTTHUMG00000039620 ENST00000408888.3:c.*474T>C chr1.hg19:g.235294554A>G NA A8K8J7|Q8N2Z8|Q9H5A1 hg19 CCDS41477.2 0.02 5.933082 GTGxCTC COVERED NOVEL RBM34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100146.1 53 4.28796 KEEP 1 11 404 155 4626 AA 1 1 0 - 6 60 214 0 1 12.935518 168 60 5164 503 ENST00000408888.3 0.034483 1 GPR137B 7107 __UNKNOWN__ __UNKNOWN__ 1 236371831 236371831 __UNKNOWN__ 3'UTR SNP T T C rs5873 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:236371831T>C ENST00000366592.3 + 0 1664 GPR137B_ENST00000477559.1_Intron NM_003272.3 NP_003263.1 O60478 G137B_HUMAN G protein-coupled receptor 137B NA NA integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020) endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) ACTTTAAAAATATAGAATATA 0.308 NA NA T||| 1345 0.26857 0.4841 0.2824 5008 , , NA 16280 0.2073 NA 0.1342 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF027826 CCDS1609.1 1q42-q43 2012-08-10 2006-01-26 2006-01-26 ENSG00000077585 ENSG00000077585 7107 11862 protein-coding gene gene with protein product 604658 transmembrane 7 superfamily member 1 (upregulated in kidney) TM7SF1 NA 9521871 Standard NM_003272 NM_003272 NA Approved uc001hxq.3 O60478 OTTHUMG00000037994 ENST00000366592.3:c.*373T>C chr1.hg19:g.236371831T>C NA Q53EK7|Q5TAE6|Q6FHI3 hg19 CCDS1609.1 0.02 1.962897 AAAxATA COVERED NOVEL GPR137B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092761.1 2 8.424748 KEEP 0 0 0 28 847 TT 0.999997 0.98794 0 + 4 60 141 0 0 9.632066 56 60 1602 121 ENST00000366592.3 0.066667 0.987943 CHML 1122 __UNKNOWN__ __UNKNOWN__ 1 241795123 241795123 __UNKNOWN__ 3'UTR SNP G G A rs76629357 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:241795123G>A ENST00000366553.1 - 0 4109 OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) NA NA intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344) Rab-protein geranylgeranyltransferase complex (GO:0005968) GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TTTTACCCCCGGCAATGCTAG 0.403 NA NA G||| 168 0.0335463 0.0219 0.0476 5008 , , NA 9663 0.001 NA 0.0467 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X64728 CCDS31073.1 1q43 2013-09-19 ENSG00000203668 ENSG00000203668 1122 1941 protein-coding gene gene with protein product 118825 NA 7981670 Standard NM_001821 NM_001821 NA Approved REP-2 uc001hzd.3 P26374 OTTHUMG00000039690 ENST00000366553.1:c.*1975C>T chr1.hg19:g.241795123G>A NA B2RAB9|Q17RE0|Q9H1Y4 hg19 CCDS31073.1 0.02 -0.438538 CCCxGCA COVERED NOVEL CHML-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095712.1 0 3.912201 KEEP 0 0 0 13 430 GG 0.994391 0.954475 0 - 23 60 696 0 0 65.587412 27 60 899 86 ENST00000366553.1 0.46 0.959859 C1orf101 257044 __UNKNOWN__ __UNKNOWN__ 1 244724092 244724092 __UNKNOWN__ Silent SNP G G A rs7544794 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr1:244724092G>A ENST00000366534.4 + 10 1206 c.1152G>A c.(1150-1152)tcG>tcA p.S384S C1orf101_ENST00000366531.3_Silent_p.S233S|C1orf101_ENST00000366533.4_Silent_p.S384S|C1orf101_ENST00000473875.1_3'UTR NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 384 NA CatSper complex (GO:0036128) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TAAGTCTATCGGTGACTGCTA 0.398 NA NA A||| 1368 0.273163 0.4334 0.2435 5008 , , NA 15481 0.376 NA 0.0775 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 A ,, 1680,2726 654.5+/-399.8 318,1044,841 109 113 111 1152,699,1152 -5.6 0 1 dbSNP_116 111 764,7836 785.0+/-407.6 26,712,3562 no coding-synonymous,coding-synonymous,coding-synonymous C1orf101 NM_001130957.1,NM_001242340.1,NM_173807.4 ,, 344,1756,4403 AA,AG,GG 8.8837,38.1298,18.7913 ,, 384/952,233/801,384/833 244724092 2444,10562 2203 4300 6503 SO:0001819 synonymous_variant BC032859 CCDS1625.1, CCDS44340.1, CCDS55693.1 1q44 2012-12-20 ENSG00000179397 ENSG00000179397 257044 28491 protein-coding gene gene with protein product NA NA 12477932 Standard NM_173807 NM_173807 NA Approved MGC33370 uc001iam.3 Q5SY80 OTTHUMG00000040103 ENST00000366534.4:c.1152G>A chr1.hg19:g.244724092G>A NA B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6 hg19 CCDS44340.1 0.02 1.324457 ATCxGTG COVERED NOVEL C1orf101-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096701.1 4 15.650137 KEEP 0 0 0 52 1776 GG 1 0.998696 0 + 5 70 157 0 0 10.144203 69 60 2280 191 ENST00000366534.4 0.067568 0.998696 ADI1 55256 __UNKNOWN__ __UNKNOWN__ 2 3502625 3502625 __UNKNOWN__ 3'UTR SNP T T C rs1130127 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:3502625T>C ENST00000327435.6 - 0 897 ADI1_ENST00000382093.5_3'UTR NM_018269.3 NP_060739.2 acireductone dioxygenase 1 NA NA breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) GGAAAGATAATCTAGCCTCAA 0.373 NA NA C||| 1716 0.342652 0.6823 0.3156 5008 , , NA 20280 0.2242 NA 0.168 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1653.1 2p25.2 2013-05-29 ENSG00000182551 ENSG00000182551 55256 1.13.11.54 30576 protein-coding gene gene with protein product membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1 613400 NA 14718544, 15938715 Standard NM_018269 NM_018269 NA Approved SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD uc002qxp.4 Q9BV57 OTTHUMG00000112441 ENST00000327435.6:c.*109A>G chr2.hg19:g.3502625T>C NA hg19 CCDS1653.1 0.02 -0.333282 TAAxCTA COVERED NOVEL ADI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231914.6 1 3.61053 KEEP 0 0 0 12 364 TT 0.993634 0.84656 0 - 4 60 139 0 0 10.305968 33 60 1006 73 ENST00000327435.6 0.108108 0.851984 COLEC11 78989 __UNKNOWN__ __UNKNOWN__ 2 3651186 3651186 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:3651186T>C ENST00000349077.4 + 2 77 COLEC11_ENST00000236693.7_Intron|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000418971.2_5'UTR|COLEC11_ENST00000487365.1_Intron|AC010907.2_ENST00000456450.1_RNA NM_024027.4 NP_076932.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 NA NA developmental process (GO:0032502)|multicellular organismal development (GO:0007275) collagen trimer (GO:0005581)|extracellular region (GO:0005576) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) gaattacaggtgtgagccact 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000078 CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1 2p25.3 2014-09-17 ENSG00000118004 ENSG00000118004 78989 Collectins 17213 protein-coding gene gene with protein product Collectin K1 612502 NA Standard NM_024027 NM_024027 NA Approved MGC3279, CL-K1 uc031rnn.1 Q9BWP8 OTTHUMG00000090304 ENST00000349077.4:c.-26-719T>C chr2.hg19:g.3651186T>C NA A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1 hg19 CCDS1649.1 0.02 5.478845 AGGxGTG COVERED NOVEL COLEC11-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206666.1 55 18.477785 KEEP 1 7 209 135 3892 TT 1 1 0 + 7 60 232 0 0 13.901359 162 60 4799 468 ENST00000349077.4 0.04142 1 DCDC2C 728597 __UNKNOWN__ __UNKNOWN__ 2 3815477 3815477 __UNKNOWN__ Intron SNP T T A rs17017989 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:3815477T>A ENST00000537457.1 + 3 286 DCDC2C_ENST00000399143.3_Intron A8MYV0 DCD2C_HUMAN doublecortin domain containing 2C NA NA intracellular signal transduction (GO:0035556) breast(1) 1 GCAGGTGACGTGCAGTTTCAT 0.393 NA NA T||| 648 0.129393 0.0015 0.1455 5008 , , NA 17850 0.3016 NA 0.1421 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AC010907 CCDS74481.1 2p25.3 2010-09-24 2010-09-24 ENSG00000214866 ENSG00000214866 728597 32696 protein-coding gene gene with protein product NA doublecortin domain containing 2C pseudogene NA Standard XM_001715903 NM_001287444 NA Approved A8MYV0 OTTHUMG00000151490 ENST00000537457.1:c.286+7T>A chr2.hg19:g.3815477T>A NA hg19 0.02 -0.403463 ACGxGCA COVERED NOVEL DCDC2C-002 KNOWN not_organism_supported|mRNA_end_NF|basic processed_transcript NA protein_coding OTTHUMT00000396777.1 3 5.114708 KEEP 0 0 0 17 510 TT 0.999366 0.9339 0 + 4 60 118 0 0 7.852218 41 60 1249 85 ENST00000537457.1 0.088889 0.934492 DCDC2C 728597 __UNKNOWN__ __UNKNOWN__ 2 3826387 3826387 __UNKNOWN__ Intron SNP T T C rs13021385 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:3826387T>C ENST00000537457.1 + 6 480 A8MYV0 DCD2C_HUMAN doublecortin domain containing 2C NA NA intracellular signal transduction (GO:0035556) breast(1) 1 TGATAAAATGTGGTGTATTTT 0.408 NA NA C||| 1818 0.363019 0.2685 0.3746 5008 , , NA 20387 0.376 NA 0.3628 False NA ,,, NA NA NA 2504 0.4693 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AC010907 CCDS74481.1 2p25.3 2010-09-24 2010-09-24 ENSG00000214866 ENSG00000214866 728597 32696 protein-coding gene gene with protein product NA doublecortin domain containing 2C pseudogene NA Standard XM_001715903 NM_001287444 NA Approved A8MYV0 OTTHUMG00000151490 ENST00000537457.1:c.481-19T>C chr2.hg19:g.3826387T>C NA hg19 0.02 2.040992 ATGxGGT COVERED NOVEL DCDC2C-002 KNOWN not_organism_supported|mRNA_end_NF|basic processed_transcript NA protein_coding OTTHUMT00000396777.1 6 9.322403 KEEP 0 0 0 31 892 TT 0.999997 0.963771 0 + 5 60 169 0 0 12.275951 44 60 1300 117 ENST00000537457.1 0.102041 0.963774 MBOAT2 129642 __UNKNOWN__ __UNKNOWN__ 2 9114543 9114543 __UNKNOWN__ Intron SNP C C T rs62119989 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:9114543C>T ENST00000305997.3 - 2 274 MBOAT2_ENST00000486484.1_Intron NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) gaaagacacccgggaatcatg 0.463 NA NA T||| 137 0.0273562 0.0053 0.0231 5008 , , NA 19049 0.004 NA 0.0646 False NA ,,, NA NA NA 2504 0.046 NA NA NA Ovarian(194;1699 3813 22401) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016005 CCDS1660.1 2p25 2008-02-05 2006-06-29 2006-06-29 ENSG00000143797 ENSG00000143797 129642 25193 protein-coding gene gene with protein product 611949 O-acyltransferase (membrane bound) domain containing 2 OACT2 NA Standard NM_138799 NM_138799 NA Approved FLJ14415, FLJ90298 uc002qzg.1 Q6ZWT7 OTTHUMG00000090363 ENST00000305997.3:c.76-15772G>A chr2.hg19:g.9114543C>T NA A9EDR2|Q8NCE7|Q96KY4 hg19 CCDS1660.1 0.02 1.441483 ACCxGGG COVERED 52 0.023809523809523808 2 0.0040650406504065045 8 0.022099447513812154 1 0.0017482517482517483 41 0.05408970976253298 T 7.612 0.675100 0.14841 . . ENSG00000143797 ENST00000462696 . . . 1.62 1.62 0.23740 . . . . . T 0.03220 0.0094 . . . 0.09310 N 1 . . . . . . T 0.18366 -1.0339 5 0.21540 T 0.41 . 3.5594 0.07877 0.0:0.2187:0.0:0.7813 rs62119989 . . . R 33 . ENSP00000417409:G33R G - 1 0 MBOAT2 9031994 0.021000 0.18746 0.018000 0.16275 0.045000 0.14185 0.331000 0.19733 0.108000 0.17862 -0.521000 0.04368 GGG NOVEL MBOAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206735.1 2 9.16168 KEEP 0 1 30 41 1370 CC 1 0.9982 0 - 4 60 128 0 0 7.981573 69 60 2243 163 ENST00000305997.3 0.054795 0.9982 TRIB2 28951 __UNKNOWN__ __UNKNOWN__ 2 12881526 12881526 __UNKNOWN__ 3'UTR SNP T T G rs1176 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:12881526T>G ENST00000155926.4 + 0 3057 TRIB2_ENST00000381465.2_3'UTR NM_021643.3 NP_067675.1 tribbles pseudokinase 2 NA NA breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTATTTAATATCCTGGTCAGG 0.378 NA NA T||| 268 0.0535144 0.0076 0.098 5008 , , NA 17964 0.001 NA 0.162 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY245544 CCDS1683.1 2p25.1 2013-10-03 2013-10-03 ENSG00000071575 ENSG00000071575 28951 30809 protein-coding gene gene with protein product 609462 tribbles homolog 2 (Drosophila) NA 12736262, 17097562, 16715410 Standard NM_021643 NM_021643 NA Approved TRB2, GS3955 uc002rbv.4 Q92519 OTTHUMG00000090575 ENST00000155926.4:c.*606T>G chr2.hg19:g.12881526T>G NA hg19 CCDS1683.1 0.02 1.848082 ATAxCCT COVERED NOVEL TRIB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207114.2 4 12.033959 KEEP 0 0 0 40 1217 TT 1 0.997898 0 + 4 60 142 0 0 9.378066 69 60 2056 147 ENST00000155926.4 0.054795 0.997898 GEN1 348654 __UNKNOWN__ __UNKNOWN__ 2 17962518 17962518 __UNKNOWN__ Missense_Mutation SNP C C T rs300169 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:17962518C>T ENST00000381254.2 + 14 2253 c.2039C>T c.(2038-2040)aCa>aTa p.T680I GEN1_ENST00000317402.7_Missense_Mutation_p.T680I|SMC6_ENST00000402989.1_Intron NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 680 NA T -> I (in dbSNP:rs300169). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139) centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CGAATATTTACAAAATTATCA 0.353 NA NA Homologous recombination T||| 3796 0.757987 0.5719 0.7608 5008 , , NA 19537 0.9851 NA 0.6372 False NA ,,, NA NA NA 2504 0.8978 NA NA NA NA 0 T ILE/THR,ILE/THR 2676,1730 511.6+/-367.8 809,1058,336 63 68 66 2039,2039 1.2 0.2 2 dbSNP_79 66 5371,3229 484.7+/-371.5 1667,2037,596 yes missense,missense GEN1 NM_001130009.1,NM_182625.3 89,89 2476,3095,932 TT,TC,CC 37.5465,39.2646,38.1286 benign,benign 680/909,680/909 17962518 8047,4959 2203 4300 6503 SO:0001583 missense AK098188 CCDS1691.1 2p24.2 2013-06-04 2013-06-04 ENSG00000178295 ENSG00000178295 348654 26881 protein-coding gene gene with protein product Holliday junction resolvase 612449 Gen endonuclease homolog 1 (Drosophila) NA 15576351 Standard NM_182625 NM_182625 NA Approved FLJ40869, Gen uc002rct.2 Q17RS7 OTTHUMG00000121173 ENST00000381254.2:c.2039C>T chr2.hg19:g.17962518C>T ENSP00000370653:p.Thr680Ile NA Q17RS9|Q6ZN37 hg19 CCDS1691.1 0.02 -0.228068 TTAxAAA COVERED 1624 0.7435897435897436 310 0.6300813008130082 263 0.7265193370165746 559 0.9772727272727273 492 0.6490765171503958 T 0.089 -1.170832 0.01660 0.607354 0.624535 ENSG00000178295 ENST00000317402;ENST00000381254;ENST00000536097 T;T 0.21361 2.01;2.01 5.41 1.16 0.20824 . 0.537161 0.17190 N 0.183544 T 0.00012 0.0000 N 0.00246 -1.78 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.30765 -0.9967 9 0.05620 T 0.96 -2.7273 0.5453 0.00653 0.3066:0.181:0.1197:0.3926 rs300169;rs52812493;rs61637007;rs300169 680 Q17RS7 GEN_HUMAN I 680;680;317 ENSP00000318977:T680I;ENSP00000370653:T680I ENSP00000318977:T680I T + 2 0 GEN1 17825999 0.000000 0.05858 0.246000 0.24233 0.862000 0.49288 0.180000 0.16860 0.077000 0.16863 -0.254000 0.11334 ACA NOVEL GEN1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241661.2 5 3.912409 KEEP 0 0 0 13 448 CC 0.994391 0.57966 0 + 5 60 146 0 0 11.553929 20 60 676 52 ENST00000381254.2 0.2 0.58293 DNAJC27 51277 __UNKNOWN__ __UNKNOWN__ 2 25167920 25167920 __UNKNOWN__ 3'UTR SNP G G A rs1172293 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:25167920G>A ENST00000264711.2 - 0 3576 NM_001198559.1|NM_016544.2 NP_001185488.1|NP_057628.1 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 NA NA small GTPase mediated signal transduction (GO:0007264) mitochondrion (GO:0005739) GTP binding (GO:0005525) breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 TTTTTAATAAGGTTGAACTAC 0.318 NA NA G||| 596 0.11901 0.0197 0.062 5008 , , NA 17644 0.249 NA 0.1093 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1716.1, CCDS74493.1 2p23.3 2011-09-02 2008-08-20 2008-08-20 ENSG00000115137 ENSG00000115137 51277 Heat shock proteins / DNAJ (HSP40) 30290 protein-coding gene gene with protein product 613527 rab and DnaJ domain containing RBJ NA 14980719 Standard NM_016544 NM_016544 NA Approved RabJS uc002rft.2 Q9NZQ0 OTTHUMG00000125524 ENST00000264711.2:c.*2565C>T chr2.hg19:g.25167920G>A NA Q5JV88|Q86Y24 hg19 CCDS1716.1 0.02 1.528924 TAAxGTT COVERED NOVEL DNAJC27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246855.3 4 15.650305 KEEP 0 0 0 52 1799 GG 1 0.999948 0 - 7 60 229 0 0 15.359638 89 60 3045 197 ENST00000264711.2 0.072917 0.999948 KIF3C 3797 __UNKNOWN__ __UNKNOWN__ 2 26149897 26149897 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:26149897G>A ENST00000264712.3 - 0 4911 NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384) cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGTaaacacgcacacaaaca 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1719.1 2p23 2008-02-05 ENSG00000084731 ENSG00000084731 3797 Kinesins 6321 protein-coding gene gene with protein product 602845 NA 9480755 Standard NM_002254 NA Approved uc002rgu.2 O14782 OTTHUMG00000094797 ENST00000264712.3:c.*1950C>T chr2.hg19:g.26149897G>A NA O43544|Q4ZG18|Q53SX5|Q562F7 hg19 CCDS1719.1 0.02 2.774464 CACxCAC COVERED NOVEL KIF3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211611.1 34 10.94251 KEEP 0 4 109 75 2511 GG 1 1 0 - 6 60 181 0 1 10.503786 120 60 4061 293 ENST00000264712.3 0.047619 1 KCNK3 3777 __UNKNOWN__ __UNKNOWN__ 2 26955621 26955621 __UNKNOWN__ 3'UTR SNP A A G rs3739081 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:26955621A>G ENST00000302909.3 + 0 5495 NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 NA NA brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548) endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Doxapram(DB00561)|Halothane(DB01159) ACAATAGCAGAAATTAGCTTG 0.443 NA NA A||| 1538 0.307109 0.1089 0.5432 5008 , , NA 23060 0.1984 NA 0.502 False NA ,,, NA NA NA 2504 0.319 NA NA NA GBM(80;1457 1631 27100 45946) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF006823 CCDS1727.1 2p23 2012-03-07 ENSG00000171303 ENSG00000171303 3777 Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P 6278 protein-coding gene gene with protein product 603220 NA 9312005, 9721223, 16382106 Standard NM_002246 NM_002246 NA Approved K2p3.1, TASK, TASK-1 uc002rhn.2 O14649 OTTHUMG00000125530 ENST00000302909.3:c.*4185A>G chr2.hg19:g.26955621A>G NA Q53SU2 hg19 CCDS1727.1 0.02 1.800963 CAGxAAT COVERED NOVEL KCNK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246861.2 4 9.327245 KEEP 0 0 0 31 947 AA 0.999997 0.995081 0 + 4 60 135 0 0 8.85911 62 60 1881 153 ENST00000302909.3 0.060606 0.995084 DPYSL5 56896 __UNKNOWN__ __UNKNOWN__ 2 27172873 27172873 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:27172873C>T ENST00000288699.6 + 0 4863 NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 NA NA axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165) cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812) breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACtgtgtgtgcgtgtgcgtgc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF264015 CCDS1730.1 2p23.3 2008-02-05 ENSG00000157851 ENSG00000157851 56896 20637 protein-coding gene gene with protein product 608383 NA 10851247, 11034345 Standard NM_020134 NM_020134 NA Approved CRMP5, Ulip6, CRMP-5, CRAM uc002rhu.4 Q9BPU6 OTTHUMG00000097071 ENST00000288699.6:c.*3010C>T chr2.hg19:g.27172873C>T NA Q8TCL6|Q9NQC4|Q9NRY9 hg19 CCDS1730.1 0.02 4.642805 GTGxGTG COVERED NOVEL DPYSL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214187.2 27 14.381445 KEEP 0 4 117 89 3014 CC 1 1 0 + 8 60 224 0 0 12.817368 139 60 4653 353 ENST00000288699.6 0.054422 1 DPYSL5 56896 __UNKNOWN__ __UNKNOWN__ 2 27172879 27172879 __UNKNOWN__ 3'UTR SNP C C T rs180823018 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:27172879C>T ENST00000288699.6 + 0 4869 NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 NA NA axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165) cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812) breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) tgtgcgtgtgcgtgcgtgtgt 0.478 NA NA C||| 1 0.000199681 0 0.0014 5008 , , NA 19127 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF264015 CCDS1730.1 2p23.3 2008-02-05 ENSG00000157851 ENSG00000157851 56896 20637 protein-coding gene gene with protein product 608383 NA 10851247, 11034345 Standard NM_020134 NM_020134 NA Approved CRMP5, Ulip6, CRMP-5, CRAM uc002rhu.4 Q9BPU6 OTTHUMG00000097071 ENST00000288699.6:c.*3016C>T chr2.hg19:g.27172879C>T NA Q8TCL6|Q9NQC4|Q9NRY9 hg19 CCDS1730.1 0.02 4.668968 GTGxGTG COVERED NOVEL DPYSL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214187.2 22 22.506029 KEEP 0 1 32 86 2925 CC 1 1 0 + 7 60 210 0 0 12.200603 137 60 4616 331 ENST00000288699.6 0.048611 1 GTF3C2 2976 __UNKNOWN__ __UNKNOWN__ 2 27550967 27550967 __UNKNOWN__ Silent SNP A A G rs1049817 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:27550967A>G ENST00000359541.2 - 17 2775 c.2346T>C c.(2344-2346)ccT>ccC p.P782P GTF3C2_ENST00000264720.3_Silent_p.P782P Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 782 NA 5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797) nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127) central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCGAGCCTTAGGAGGGTTGG 0.468 NA NA G||| 2255 0.45028 0.7413 0.4755 5008 , , NA 18593 0.1647 NA 0.3807 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 0 G , 2978,1428 463.4+/-353.5 1030,918,255 104 98 100 2346,2346 2.3 1 2 dbSNP_86 100 3344,5256 643.3+/-399.9 633,2078,1589 yes coding-synonymous,coding-synonymous GTF3C2 NM_001035521.1,NM_001521.2 , 1663,2996,1844 GG,GA,AA 38.8837,32.4103,48.6083 , 782/912,782/912 27550967 6322,6684 2203 4300 6503 SO:0001819 synonymous_variant D13636 CCDS1749.1 2p23.3 2013-01-10 2002-08-29 ENSG00000115207 ENSG00000115207 2976 General transcription factors, WD repeat domain containing 4665 protein-coding gene gene with protein product 604883 general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD) NA 7729686 Standard NM_001521 NA Approved KIAA0011, TFIIIC110 uc002rjw.2 Q8WUA4 OTTHUMG00000097785 ENST00000359541.2:c.2346T>C chr2.hg19:g.27550967A>G NA D6W557|Q16632|Q9BWI7 hg19 CCDS1749.1 0.02 1.783479 CTTxGGA COVERED 886|886 0.4056776556776557|0.4056776556776557 363|363 0.7378048780487805|0.7378048780487805 151|151 0.4171270718232044|0.4171270718232044 76|76 0.13286713286713286|0.13286713286713286 296|296 0.39050131926121373|0.39050131926121373 G|G 7.681|7.681 0.689087|0.689087 0.14973|0.14973 0.675897|0.675897 0.388837|0.388837 ENSG00000115207|ENSG00000115207 ENST00000454704;ENST00000415683|ENST00000457098 .|. .|. .|. 5.16|5.16 2.32|2.32 0.28847|0.28847 .|. .|. .|. .|. .|. T|. 0.00012|. 0.0000|. .|. .|. .|. 0.09310|0.09310 P|P 0.9999999999992096|0.9999999999992096 .|. .|. .|. .|. .|. .|. T|. 0.28713|. -1.0035|. 3|. .|. .|. .|. -12.1842|-12.1842 4.5341|4.5341 0.12020|0.12020 0.2565:0.0:0.5912:0.1522|0.2565:0.0:0.5912:0.1522 rs1049817;rs1124771;rs3189992;rs17006023;rs56842809;rs1049817|rs1049817;rs1124771;rs3189992;rs17006023;rs56842809;rs1049817 .|. .|. .|. P|Q 291;205|76 .|. .|. L|X -|- 2|1 0|0 GTF3C2|GTF3C2 27404471|27404471 0.305000|0.305000 0.24481|0.24481 0.999000|0.999000 0.59377|0.59377 0.961000|0.961000 0.63080|0.63080 -0.432000|-0.432000 0.06956|0.06956 0.197000|0.197000 0.20387|0.20387 -0.119000|-0.119000 0.15052|0.15052 CTA|TAA NOVEL GTF3C2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215028.2 3 8.723103 KEEP 0 0 0 29 880 AA 0.999997 0.99623 0 - 5 60 173 0 0 11.899217 64 60 1894 139 ENST00000359541.2 0.072464 0.996233 BRE 9577 __UNKNOWN__ __UNKNOWN__ 2 28117415 28117415 __UNKNOWN__ 5'UTR SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:28117415C>G ENST00000342045.2 + 0 133 BRE_ENST00000361704.2_5'UTR|BRE_ENST00000379632.2_5'UTR|BRE_ENST00000344773.2_5'UTR|BRE_ENST00000603461.1_Intron|BRE_ENST00000379624.1_5'UTR NM_199194.2 NP_954664.1 brain and reproductive organ-expressed (TNFRSF1A modulator) NA NA NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) ATTTACAAGTCAAGTTAAAAT 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 193 189 191 NA NA 2 NA 28117415 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF015767 CCDS1763.1, CCDS1764.1, CCDS1765.1 2p23 2008-02-05 ENSG00000158019 ENSG00000158019 9577 1106 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 4 610497 NA 9737713, 7826398 Standard NM_004899 NA Approved BRCC45, BRCC4 uc002rls.3 Q9NXR7 OTTHUMG00000097831 ENST00000342045.2:c.-9C>G chr2.hg19:g.28117415C>G NA hg19 CCDS1763.1 0.02 7.909026 AGTxAAG COVERED NOVEL BRE-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215114.1 12 6.9189 KEEP 0 11 390 159 5543 CC 1 1 0 + 24 60 828 0 0 61.136139 200 60 6832 580 ENST00000342045.2 0.107143 1 LCLAT1 253558 __UNKNOWN__ __UNKNOWN__ 2 30830182 30830182 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:30830182A>G ENST00000379509.3 + 6 780 LCLAT1_ENST00000319406.4_3'UTR|LCLAT1_ENST00000309052.4_Intron|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000540623.1_Intron NM_001002257.1 NP_001002257.1 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 NA NA cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 gattacaggcatgagccaccg 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095284 CCDS1772.1, CCDS42670.1 2p23.1 2008-12-15 2008-12-15 2008-12-15 ENSG00000172954 ENSG00000172954 253558 26756 protein-coding gene gene with protein product 614241 lysocardiolipin acyltransferase LYCAT NA 18931347, 15152008, 16620771, 17675553 Standard NM_182551 NM_001002257 NA Approved FLJ37965, ALCAT1, AGPAT8 uc002rnl.3 Q6UWP7 OTTHUMG00000099349 ENST00000379509.3:c.629-32801A>G chr2.hg19:g.30830182A>G NA A6H8Z7|Q8N1Q7 hg19 CCDS42670.1 0.02 -0.236811 GGCxTGA COVERED NOVEL LCLAT1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353432.1 4 4.814471 KEEP 0 0 0 16 495 AA 0.997832 0.611079 0 + 3 60 101 0 0 7.549531 22 60 661 54 ENST00000379509.3 0.12 0.612407 SRSF7 6432 __UNKNOWN__ __UNKNOWN__ 2 38974275 38974275 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:38974275A>G ENST00000313117.6 - 6 810 SRSF7_ENST00000446327.2_Intron|SRSF7_ENST00000409276.1_Intron NM_001031684.2|NM_001195446.1 NP_001026854.1|NP_001182375.1 Q16629 SRSF7_HUMAN serine/arginine-rich splicing factor 7 NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 tcaggaggctaaggcaggaTG 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L41887 CCDS33183.1, CCDS56115.1 2p22.1 2013-02-12 2010-06-22 2010-06-22 ENSG00000115875 ENSG00000115875 6432 Zinc fingers, CCHC domain containing, Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing 10789 protein-coding gene gene with protein product SR splicing factor 7 600572 splicing factor, arginine/serine-rich 7 (35kD), splicing factor, arginine/serine-rich 7, 35kDa SFRS7 NA 8013463, 20516191 Standard NM_001031684 NM_001031684 NA Approved 9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20 uc002rqz.3 Q16629 OTTHUMG00000102076 ENST00000313117.6:c.573-386T>C chr2.hg19:g.38974275A>G NA B4DLU6|G5E9M3|Q564D3 hg19 CCDS33183.1 0.02 4.047257 GCTxAGG COVERED NOVEL SRSF7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219889.2 8 6.679379 KEEP 0 2 65 45 1244 AA 1 0.999987 0 - 5 60 173 0 0 10.962442 100 60 2850 203 ENST00000313117.6 0.047619 0.999987 GEMIN6 79833 __UNKNOWN__ __UNKNOWN__ 2 39009474 39009474 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:39009474T>C ENST00000281950.3 + 0 1060 NM_024775.9 NP_079051.9 Q8WXD5 GEMI6_HUMAN gem (nuclear organelle) associated protein 6 NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719) kidney(1)|large_intestine(3)|pancreas(1) 5 all_hematologic(82;0.21) ttagtagagatggggtttcac 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF453443 CCDS1799.1 2p22.1 2014-05-14 ENSG00000152147 ENSG00000152147 79833 20044 protein-coding gene gene with protein product 607006 NA 11748230 Standard NM_024775 NA Approved FLJ23459 uc002rrc.3 Q8WXD5 OTTHUMG00000128588 ENST00000281950.3:c.*440T>C chr2.hg19:g.39009474T>C NA B2RDP8|Q53SI5|Q8WVB4|Q9H5G6 hg19 CCDS1799.1 0.02 -0.315634 AGAxGGG COVERED NOVEL GEMIN6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250441.3 2 2.405589 KEEP 0 0 0 8 226 TT 0.99257 0.812384 0 + 3 60 107 0 0 7.726553 31 60 859 58 ENST00000281950.3 0.088235 0.818465 PLEKHH2 130271 __UNKNOWN__ __UNKNOWN__ 2 43994011 43994011 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:43994011G>A ENST00000282406.4 + 0 5866 NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 NA NA negative regulation of actin filament depolymerization (GO:0030835) cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) actin binding (GO:0003779) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) tgctgggattgcaggcatgag 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB095948 CCDS1812.1 2p22 2013-01-10 ENSG00000152527 ENSG00000152527 130271 Pleckstrin homology (PH) domain containing 30506 protein-coding gene gene with protein product 612723 NA Standard NM_172069 NM_172069 NA Approved KIAA2028, PLEKHH1L uc010yny.2 Q8IVE3 OTTHUMG00000128657 ENST00000282406.4:c.*1274G>A chr2.hg19:g.43994011G>A NA Q5JPJ6|Q6P4Q1|Q8N3Q3 hg19 CCDS1812.1 0.02 -0.385987 ATTxCAG COVERED NOVEL PLEKHH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250537.1 6 6.621749 KEEP 0 0 0 22 788 GG 0.999879 0.918059 0 + 4 60 114 0 0 7.622694 37 60 1304 86 ENST00000282406.4 0.097561 0.918171 SLC3A1 6519 __UNKNOWN__ __UNKNOWN__ 2 44531086 44531086 __UNKNOWN__ Intron SNP G G A rs562279033 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:44531086G>A ENST00000409387.1 + 7 1208 SLC3A1_ENST00000409380.1_Intron|SLC3A1_ENST00000409740.3_5'UTR|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409741.1_Intron|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409229.3_Intron Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 NA NA amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774) amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) tccatggtgtgtatgtgccac 0.403 NA NA g||| 1 0.000199681 0 0 5008 , , NA 22428 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1819.1 2p16.3 2013-07-19 2013-07-19 ENSG00000138079 ENSG00000138079 6519 Solute carriers 11025 protein-coding gene gene with protein product 104614 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 NA 8486766, 9186880 Standard NM_000341 NM_000341 NA Approved CSNU1, D2H, RBAT, ATR1, NBAT uc002ruc.4 Q07837 OTTHUMG00000128759 ENST00000409387.1:c.1137-196G>A chr2.hg19:g.44531086G>A NA A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94 hg19 0.02 1.146612 TGTxTAT COVERED NOVEL SLC3A1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000327835.1 13 10.467531 KEEP 0 1 26 44 1545 GG 1 0.999622 0 + 11 60 323 0 0 23.644452 69 60 2373 183 ENST00000409387.1 0.1375 0.999622 WDR92 116143 __UNKNOWN__ __UNKNOWN__ 2 68358346 68358346 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:68358346A>G ENST00000295121.6 - 0 1214 WDR92_ENST00000492039.2_Intron NM_138458.3 NP_612467.1 Q96MX6 WDR92_HUMAN WD repeat domain 92 NA NA apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968) methylated histone binding (GO:0035064) endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1) 12 caccgtgcccagccTCAAGTC 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 65 64 65 NA NA 2 NA 68358346 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK056303 CCDS1884.1, CCDS58712.1 2p14 2013-01-09 ENSG00000243667 ENSG00000243667 116143 WD repeat domain containing 25176 protein-coding gene gene with protein product 610729 NA 16487927 Standard NM_138458 NM_138458 NA Approved FLJ31741, Monad uc002see.2 Q96MX6 OTTHUMG00000152561 ENST00000295121.6:c.*24T>C chr2.hg19:g.68358346A>G NA Q96CR6 hg19 CCDS1884.1 0.02 3.903428 CCCxGCC COVERED NOVEL WDR92-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251754.2 21 19.858886 KEEP 0 0 0 66 2045 AA 1 0.999995 0 - 5 60 170 0 0 10.619997 102 60 3124 261 ENST00000295121.6 0.046729 0.999995 PCYOX1 51449 __UNKNOWN__ __UNKNOWN__ 2 70504926 70504926 __UNKNOWN__ 3'UTR SNP A A G rs62151217 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:70504926A>G ENST00000264441.5 + 0 1650 PCYOX1_ENST00000433351.2_3'UTR Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 NA NA prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 tggattctcaagctcctctct 0.423 NA NA A||| 1902 0.379792 0.084 0.4193 5008 , , NA 17871 0.3194 NA 0.6113 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020715 CCDS1902.1 2p13.3 2008-02-05 ENSG00000116005 ENSG00000116005 51449 1.8.3.5 20588 protein-coding gene gene with protein product 610995 NA 10585463, 12186880 Standard NM_016297 NM_016297 NA Approved KIAA0908, PCL1 uc002sgn.4 Q9UHG3 OTTHUMG00000129671 ENST00000264441.5:c.*752A>G chr2.hg19:g.70504926A>G NA B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8 hg19 0.02 -0.254336 TCAxGCT COVERED NOVEL PCYOX1-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000331593.2 7 3.310121 KEEP 0 0 0 11 348 AA 0.993072 0.663892 0 + 3 60 96 0 0 6.943104 24 60 743 49 ENST00000264441.5 0.111111 0.668523 PCYOX1 51449 __UNKNOWN__ __UNKNOWN__ 2 70504972 70504972 __UNKNOWN__ 3'UTR SNP G G C rs7595934 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:70504972G>C ENST00000264441.5 + 0 1696 PCYOX1_ENST00000433351.2_3'UTR Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 NA NA prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 ggagtggcgcgctggattttg 0.383 NA NA C||| 3674 0.733626 0.8623 0.7867 5008 , , NA 17865 0.6161 NA 0.6859 False NA ,,, NA NA NA 2504 0.6922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020715 CCDS1902.1 2p13.3 2008-02-05 ENSG00000116005 ENSG00000116005 51449 1.8.3.5 20588 protein-coding gene gene with protein product 610995 NA 10585463, 12186880 Standard NM_016297 NM_016297 NA Approved KIAA0908, PCL1 uc002sgn.4 Q9UHG3 OTTHUMG00000129671 ENST00000264441.5:c.*798G>C chr2.hg19:g.70504972G>C NA B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8 hg19 0.02 -0.438601 CGCxCTG COVERED NOVEL PCYOX1-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000331593.2 3 8.1263 KEEP 0 0 0 27 944 GG 0.999988 0.959847 0 + 3 60 98 0 0 6.333498 46 60 1522 117 ENST00000264441.5 0.061224 0.959859 ADD2 119 __UNKNOWN__ __UNKNOWN__ 2 70888892 70888892 __UNKNOWN__ 3'UTR SNP G G C rs3821258 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:70888892G>C ENST00000264436.4 - 0 4290 NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) NA NA actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461) cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886) actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 AACAGTCATAGAGACAAATCC 0.478 NA NA G||| 747 0.149161 0.0651 0.1167 5008 , , NA 21716 0.1577 NA 0.161 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X58199 CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1 2p13.3 2008-02-05 ENSG00000075340 ENSG00000075340 119 244 protein-coding gene gene with protein product 102681 NA 1840603 Standard NM_001617 NM_001617 NA Approved ADDB uc021vjc.1 P35612 OTTHUMG00000129710 ENST00000264436.4:c.*1665C>G chr2.hg19:g.70888892G>C NA A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691 hg19 CCDS1906.1 0.02 -0.333346 ATAxAGA COVERED NOVEL ADD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251918.4 2 4.815173 KEEP 0 0 0 16 573 GG 0.997832 0.850137 0 - 3 60 101 0 0 6.975313 35 60 1177 71 ENST00000264436.4 0.078947 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 74230310 74230310 __UNKNOWN__ IGR SNP C C T rs57360501|rs142058377 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:74230310C>T NA NA RP11-711M9.1 (9443 upstream) : TET3 (43139 downstream) NA NA NA tgtgtgtgtgcgtgcgtgtgt 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.74230310C>T NA hg19 0.02 2.628899 GTGxGTG COVERED NOVEL 0 19 12.672639 KEEP 0 1 25 51 1701 CC 1 1 0 7 60 195 1 0 10.96357 126 60 4250 276 0.052632 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 74230314 74230314 __UNKNOWN__ IGR SNP C C T rs57360501|rs142058377 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:74230314C>T NA NA RP11-711M9.1 (9447 upstream) : TET3 (43135 downstream) NA NA NA tgtgtgcgtgcgtgtgtgtgc 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.74230314C>T NA hg19 0.02 2.620524 GTGxGTG COVERED NOVEL 0 16 7.993186 KEEP 0 2 61 48 1602 CC 1 1 0 7 60 197 2 0 11.12004 128 60 4299 277 0.051852 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 74230324 74230324 __UNKNOWN__ IGR SNP C C T rs550257775 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:74230324C>T NA NA RP11-711M9.1 (9457 upstream) : TET3 (43125 downstream) NA NA NA cgtgtgtgtgcgtgtgtgtgG 0.542 NA NA c||| 1 0.000199681 0 0 5008 , , NA 11118 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.74230324C>T NA hg19 0.02 2.37869 GTGxGTG COVERED NOVEL 0 23 4.817501 KEEP 0 3 91 48 1576 CC 1 1 0 9 60 262 1 2 16.065567 129 60 4323 274 0.065217 1 MOGS 7841 __UNKNOWN__ __UNKNOWN__ 2 74690378 74690378 __UNKNOWN__ Missense_Mutation SNP C C T rs1063588 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:74690378C>T ENST00000233616.4 - 3 877 c.715G>A c.(715-717)Gac>Aac p.D239N MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.D133N|MOGS_ENST00000409065.1_Intron NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 239 NA D -> N (in dbSNP:rs1063588). {ECO:0000269|PubMed:7635146}. cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573) cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 AAGCGGAAGTCACCAAGTTCA 0.527 NA NA C||| 2598 0.51877 0.8086 0.3127 5008 , , NA 20904 0.8214 NA 0.1581 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 C ASN/ASP,ASN/ASP 2661,1287 899,863,212 116 119 118 397,715 4.8 1 2 dbSNP_86 118 1138,7210 82,974,3118 yes missense,missense MOGS NM_001146158.1,NM_006302.2 23,23 981,1837,3330 TT,TC,CC 13.632,32.5988,30.8962 benign,benign 133/732,239/838 74690378 3799,8497 1974 4174 6148 SO:0001583 missense X87237 CCDS42700.1, CCDS54370.1 2p13.1 2012-01-31 ENSG00000115275 ENSG00000115275 7841 3.2.1.106 24862 protein-coding gene gene with protein product glucosidase I, processing A-glucosidase I 601336 NA 7635146, 8786151 Standard NM_006302 NM_006302 NA Approved GCS1, CWH41, DER7 uc010ffj.3 Q13724 OTTHUMG00000152886 ENST00000233616.4:c.715G>A chr2.hg19:g.74690378C>T ENSP00000233616:p.Asp239Asn NA A8K938|F5H6D0|Q17RN9|Q8TCT5 hg19 CCDS42700.1 0.02 1.313225 AGTxACC COVERED 1064 0.48717948717948717 387 0.7865853658536586 94 0.2596685082872928 469 0.8199300699300699 114 0.1503957783641161 C 12.59 1.983034 0.34942 0.674012 0.13632 ENSG00000115275 ENST00000233616;ENST00000452063;ENST00000448666;ENST00000414701 T;T;T;T 0.36878 1.23;1.23;1.23;1.23 4.85 4.85 0.62838 . 0.243944 0.41194 D 0.000925 T 0.00012 0.0000 N 0.17800 0.525 0.09310 P 1.0 P 0.36616 0.561 B 0.36666 0.23 T 0.07558 -1.0766 9 0.21014 T 0.42 -20.9003 13.3472 0.60580 0.0:1.0:0.0:0.0 rs1063588;rs3204621;rs58978224;rs1063588 239 Q13724 MOGS_HUMAN N 239;133;133;120 ENSP00000233616:D239N;ENSP00000388201:D133N;ENSP00000410992:D133N;ENSP00000396298:D120N ENSP00000233616:D239N D - 1 0 MOGS 74543886 0.998000 0.40836 1.000000 0.80357 0.950000 0.60333 0.994000 0.29693 2.504000 0.84457 0.655000 0.94253 GAC NOVEL MOGS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328382.1 6 7.223026 KEEP 0 0 0 24 816 CC 0.999909 0.994332 0 - 6 60 166 0 0 10.742494 60 60 2036 127 ENST00000233616.4 0.090909 0.994422 SEMA4F 10505 __UNKNOWN__ __UNKNOWN__ 2 74902872 74902872 __UNKNOWN__ Intron SNP A A G rs363609|rs397835201 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:74902872A>G ENST00000357877.2 + 12 1631 SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Intron NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) receptor activity (GO:0004872) biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 CTCCGTTTTTATAGAGCTGGC 0.542 NA NA G||| 2658 0.530751 0.8517 0.3127 5008 , , NA 20118 0.8204 NA 0.1471 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 G 3311,1095 393.7+/-329.0 1246,819,138 92 88 89 -2.4 0.1 2 dbSNP_79 89 1210,7390 763.4+/-407.6 79,1052,3169 no intron SEMA4F NM_004263.3 1325,1871,3307 GG,GA,AA 14.0698,24.8525,34.7609 74902872 4521,8485 2203 4300 6503 SO:0001627 intron_variant AF038652 CCDS1955.1, CCDS62942.1, CCDS74529.1 2p13.1 2008-05-21 ENSG00000135622 ENSG00000135622 10505 Semaphorins 10734 protein-coding gene gene with protein product m-Sema M 603706 SEMAM NA 10051670 Standard NM_004263 NM_004263 NA Approved SEMAW uc002sna.2 O95754 OTTHUMG00000129952 ENST00000357877.2:c.1483-4A>G chr2.hg19:g.74902872A>G NA Q542Y7|Q9NS35 hg19 CCDS1955.1 0.02 1.719907 TTTxTAG COVERED NOVEL SEMA4F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252214.2 5 13.835287 KEEP 0 0 0 46 1330 AA 1 0.999956 0 + 4 60 144 0 0 9.036922 95 60 2698 187 ENST00000357877.2 0.040404 0.999956 SEMA4F 10505 __UNKNOWN__ __UNKNOWN__ 2 74908299 74908299 __UNKNOWN__ 3'UTR SNP C C T rs3025994 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:74908299C>T ENST00000357877.2 + 0 3425 NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) receptor activity (GO:0004872) biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AGAAGGGGAACAGTCATAGGA 0.478 NA NA C||| 2382 0.475639 0.6861 0.2968 5008 , , NA 20869 0.8125 NA 0.1461 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF038652 CCDS1955.1, CCDS62942.1, CCDS74529.1 2p13.1 2008-05-21 ENSG00000135622 ENSG00000135622 10505 Semaphorins 10734 protein-coding gene gene with protein product m-Sema M 603706 SEMAM NA 10051670 Standard NM_004263 NM_004263 NA Approved SEMAW uc002sna.2 O95754 OTTHUMG00000129952 ENST00000357877.2:c.*963C>T chr2.hg19:g.74908299C>T NA Q542Y7|Q9NS35 hg19 CCDS1955.1 0.02 -0.228082 GAAxAGT COVERED NOVEL SEMA4F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252214.2 2 4.21221 KEEP 0 0 0 14 471 CC 0.995343 0.580216 0 + 4 60 117 0 0 8.762802 22 60 766 51 ENST00000357877.2 0.153846 0.58293 REG3A 5068 __UNKNOWN__ __UNKNOWN__ 2 79385631 79385631 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:79385631G>A ENST00000409839.3 - 4 232 REG3A_ENST00000393878.1_Intron|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Intron NM_002580.2|NM_138937.2 NP_002571.1|NP_620354.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha NA NA acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303) cytoplasm (GO:0005737)|extracellular space (GO:0005615) carbohydrate binding (GO:0030246) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CCTGAGACCTGCTGAGGGAGG 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 58 55 56 NA NA 2 NA 79385631 2203 4300 6503 SO:0001627 intron_variant S51768 CCDS1965.1 2p12 2008-02-05 2005-02-11 2005-02-11 ENSG00000172016 ENSG00000172016 5068 8601 protein-coding gene gene with protein product 167805 pancreatitis-associated protein PAP NA 8188210 Standard NM_002580 NM_002580 NA Approved HIP, REG-III, REG3, PBCGF, PAP1 uc002sof.2 Q06141 OTTHUMG00000130017 ENST00000409839.3:c.196-42C>T chr2.hg19:g.79385631G>A NA hg19 CCDS1965.1 0.02 3.168998 CCTxCTG COVERED NOVEL REG3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252290.2 7 6.662077 KEEP 0 4 128 67 2361 GG 1 0.999981 0 - 10 43 296 0 0 20.357082 88 60 3119 252 ENST00000409839.3 0.102041 0.999981 TGOLN2 10618 __UNKNOWN__ __UNKNOWN__ 2 85546052 85546052 __UNKNOWN__ 3'UTR SNP A A G rs1053561 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:85546052A>G ENST00000377386.3 - 0 5583 TGOLN2_ENST00000398263.2_3'UTR|TGOLN2_ENST00000282120.2_3'UTR O43493 TGON2_HUMAN trans-golgi network protein 2 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) NA GATGTGTCTAATAGAAATCAC 0.473 NA NA A||| 3238 0.646565 0.5182 0.719 5008 , , NA 18174 0.869 NA 0.5219 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF027515 CCDS46351.1, CCDS56126.1, CCDS56127.1 2p11.2 2012-06-25 ENSG00000152291 ENSG00000152291 10618 15450 protein-coding gene gene with protein product trans-Golgi network protein (46, 48, 51kD isoforms) 603062 NA 9422759, 21994457 Standard NM_006464 NM_001206840 NA Approved TGN51, TGN46, TGN48, TGN38, TTGN2 uc021vjw.1 O43493 OTTHUMG00000153017 ENST00000377386.3:c.*3807T>C chr2.hg19:g.85546052A>G NA B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2 hg19 CCDS46351.1 0.02 1.918186 CTAxTAG COVERED NOVEL TGOLN2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000329025.2 1 10.829866 KEEP 0 0 0 36 1091 AA 0.999999 0.993702 0 - 5 60 180 0 0 12.732837 60 60 1822 134 ENST00000377386.3 0.076923 0.993703 TGOLN2 10618 __UNKNOWN__ __UNKNOWN__ 2 85546192 85546192 __UNKNOWN__ 3'UTR SNP C C T rs1053560 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:85546192C>T ENST00000377386.3 - 0 5443 TGOLN2_ENST00000398263.2_3'UTR|TGOLN2_ENST00000282120.2_3'UTR O43493 TGON2_HUMAN trans-golgi network protein 2 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) NA TCACCCTCATCCACACAATCG 0.473 NA NA C||| 3453 0.689497 0.5832 0.745 5008 , , NA 17924 0.9563 NA 0.5368 False NA ,,, NA NA NA 2504 0.6759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF027515 CCDS46351.1, CCDS56126.1, CCDS56127.1 2p11.2 2012-06-25 ENSG00000152291 ENSG00000152291 10618 15450 protein-coding gene gene with protein product trans-Golgi network protein (46, 48, 51kD isoforms) 603062 NA 9422759, 21994457 Standard NM_006464 NM_001206840 NA Approved TGN51, TGN46, TGN48, TGN38, TTGN2 uc021vjw.1 O43493 OTTHUMG00000153017 ENST00000377386.3:c.*3667G>A chr2.hg19:g.85546192C>T NA B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2 hg19 CCDS46351.1 0.02 2.940928 CATxCAC COVERED NOVEL TGOLN2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000329025.2 19 25.282059 KEEP 0 0 0 84 2959 CC 1 1 0 - 7 60 209 0 0 12.516516 119 60 4092 308 ENST00000377386.3 0.055556 1 TGOLN2 10618 __UNKNOWN__ __UNKNOWN__ 2 85549527 85549527 __UNKNOWN__ 3'UTR SNP T T C rs3184781 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:85549527T>C ENST00000409232.3 - 0 1724 TGOLN2_ENST00000409015.1_3'UTR|TGOLN2_ENST00000398263.2_3'UTR|TGOLN2_ENST00000282120.2_3'UTR|TGOLN2_ENST00000377386.3_3'UTR O43493 TGON2_HUMAN trans-golgi network protein 2 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) NA CCTTTGGTCATAGCCGTGTTT 0.557 NA NA T||| 3239 0.646765 0.5189 0.719 5008 , , NA 17496 0.869 NA 0.5219 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF027515 CCDS46351.1, CCDS56126.1, CCDS56127.1 2p11.2 2012-06-25 ENSG00000152291 ENSG00000152291 10618 15450 protein-coding gene gene with protein product trans-Golgi network protein (46, 48, 51kD isoforms) 603062 NA 9422759, 21994457 Standard NM_006464 NM_001206840 NA Approved TGN51, TGN46, TGN48, TGN38, TTGN2 uc021vjw.1 O43493 OTTHUMG00000153017 ENST00000409232.3:c.*301A>G chr2.hg19:g.85549527T>C NA B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2 hg19 CCDS56126.1 0.02 3.740089 TCAxAGC COVERED NOVEL TGOLN2-006 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000329045.2 5 23.162826 KEEP 0 0 0 77 2253 TT 1 1 0 - 6 60 213 0 0 13.412279 134 60 3851 306 ENST00000409232.3 0.042857 1 TGOLN2 10618 __UNKNOWN__ __UNKNOWN__ 2 85549868 85549868 __UNKNOWN__ Missense_Mutation SNP A A G rs4240199 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:85549868A>G ENST00000409232.3 - 4 1383 c.1322T>C c.(1321-1323)cTa>cCa p.L441P TGOLN2_ENST00000409015.1_Nonstop_Mutation_p.*455Q|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000377386.3_Intron O43493 TGON2_HUMAN trans-golgi network protein 2 446 NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) NA GTTAGGACTTAGGGGAAAAAA 0.388 NA NA T||| 3901 0.778954 0.8086 0.8026 5008 , , NA 18791 0.9563 NA 0.6004 False NA ,,, NA NA NA 2504 0.7229 NA NA NA NA 0 G GLN/stop,PRO/LEU,, 2963,789 1174,615,87 61 59 60 1363,1322,, -3.6 0 2 dbSNP_111 60 4965,3233 1518,1929,652 yes stop-lost,missense,intron,intron TGOLN2 NM_001206840.1,NM_001206841.1,NM_001206844.1,NM_006464.3 ,98,, 2692,2544,739 GG,GA,AA 39.4364,21.0288,33.6569 ,,, 455/481,441/454,, 85549868 7928,4022 1876 4099 5975 SO:0001583 missense AF027515 CCDS46351.1, CCDS56126.1, CCDS56127.1 2p11.2 2012-06-25 ENSG00000152291 ENSG00000152291 10618 15450 protein-coding gene gene with protein product trans-Golgi network protein (46, 48, 51kD isoforms) 603062 NA 9422759, 21994457 Standard NM_006464 NM_001206840 NA Approved TGN51, TGN46, TGN48, TGN38, TTGN2 uc021vjw.1 O43493 OTTHUMG00000153017 ENST00000409232.3:c.1322T>C chr2.hg19:g.85549868A>G ENSP00000386443:p.Leu441Pro NA B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2 hg19 CCDS56126.1 0.02 5.854442 CTTxGGG COVERED 1676|1676 0.7673992673992674|0.7673992673992674 408|408 0.8292682926829268|0.8292682926829268 281|281 0.7762430939226519|0.7762430939226519 541|541 0.9458041958041958|0.9458041958041958 446|446 0.5883905013192612|0.5883905013192612 T|T 9.164|9.164 1.019382|1.019382 0.19355|0.19355 0.789712|0.789712 0.605636|0.605636 ENSG00000152291|ENSG00000152291 ENST00000409232|ENST00000409015 T|. 0.15487|. 2.42|. 4.23|4.23 -3.58|-3.58 0.04597|0.04597 .|. .|. .|. .|. .|. T|. 0.00012|. 0.0000|. .|. .|. .|. 0.09310|0.09310 P|P 1.0|1.0 .|. .|. .|. .|. .|. .|. T|. 0.15780|. -1.0425|. 5|. 0.41790|. T|. 0.15|. .|. 4.1813|4.1813 0.10376|0.10376 0.4631:0.0:0.2826:0.2543|0.4631:0.0:0.2826:0.2543 rs4240199;rs60799316|rs4240199;rs60799316 .|. .|. .|. P|Q 441|455 ENSP00000386443:L441P|. ENSP00000386443:L441P|. L|X -|- 2|1 0|0 TGOLN2|TGOLN2 85403379|85403379 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.002000|0.002000 0.02628|0.02628 -2.373000|-2.373000 0.01072|0.01072 -1.204000|-1.204000 0.02648|0.02648 -0.699000|-0.699000 0.03677|0.03677 CTA|TAA NOVEL TGOLN2-006 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000329045.2 6 39.411307 KEEP 0 0 0 131 3962 AA 1 1 0 - 7 60 242 0 0 15.083822 152 60 4572 409 ENST00000409232.3 0.044025 1 TGOLN2 10618 __UNKNOWN__ __UNKNOWN__ 2 85551779 85551779 __UNKNOWN__ Intron SNP G G A rs2366404 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:85551779G>A ENST00000409232.3 - 3 1370 TGOLN2_ENST00000409015.1_Intron|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000377386.3_Intron|TGOLN2_ENST00000444342.2_3'UTR O43493 TGON2_HUMAN trans-golgi network protein 2 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) NA gtgtttctgcgtgggcctatt 0.448 NA NA G||| 3282 0.655351 0.5469 0.719 5008 , , NA 17251 0.875 NA 0.5219 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF027515 CCDS46351.1, CCDS56126.1, CCDS56127.1 2p11.2 2012-06-25 ENSG00000152291 ENSG00000152291 10618 15450 protein-coding gene gene with protein product trans-Golgi network protein (46, 48, 51kD isoforms) 603062 NA 9422759, 21994457 Standard NM_006464 NM_001206840 NA Approved TGN51, TGN46, TGN48, TGN38, TTGN2 uc021vjw.1 O43493 OTTHUMG00000153017 ENST00000409232.3:c.1308+258C>T chr2.hg19:g.85551779G>A NA B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2 hg19 CCDS56126.1 0.02 -0.438504 TGCxTGG COVERED NOVEL TGOLN2-006 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000329045.2 4 8.726961 KEEP 0 0 0 29 966 GG 0.999997 0.959856 0 - 5 60 128 0 0 8.18765 44 70 1429 116 ENST00000409232.3 0.102041 0.959859 IGKV2-30 28919 __UNKNOWN__ __UNKNOWN__ 2 89544473 89544473 __UNKNOWN__ RNA SNP A A G rs147079411 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:89544473A>G ENST00000468494.1 - 0 180 immunoglobulin kappa variable 2-30 NA NA NA CCATCACTGTATACGAGGCTT 0.537 NA NA a||| 1388 0.277157 0.3964 0.255 5008 , , NA 14730 0.4335 NA 0.0557 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 A 632,2878 99,434,1222 29 33 32 -1.1 0 2 dbSNP_134 32 390,7662 16,358,3652 no intergenic 115,792,4874 GG,GA,AA 4.8435,18.0057,8.8393 89544473 1022,10540 1755 4026 5781 X63403 2p11.2 2012-02-08 ENSG00000243238 ENSG00000243238 28919 Immunoglobulins / IGK locus 5785 other immunoglobulin gene NA NA Standard NG_000834 NG_000834 NA Approved OTTHUMG00000151692 ENST00000468494.1: chr2.hg19:g.89544473A>G NA hg19 0.02 -0.254303 TGTxTAC COVERED NOVEL IGKV2-30-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000323491.1 4 12.633928 KEEP 69 0 0 42 1234 AA 0.99986 0.668429 0 - 3 44 101 0 0 7.344371 26 50 730 162 ENST00000468494.1 0.103448 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91766609 91766609 __UNKNOWN__ IGR SNP G G A rs2433883 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:91766609G>A NA NA None (None upstream) : RP11-575H3.1 (1783 downstream) NA NA NA TATGGGGGTTGTAATGTTTAT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.91766609G>A NA hg19 0.02 8.416824 GTTxTAA COVERED NOVEL 0 20 4.126651 KEEP 3 15 432 166 5810 GG 1 1 0 28 60 792 0 0 52.366684 268 60 9182 707 0.094595 1 MRPS5 64969 __UNKNOWN__ __UNKNOWN__ 2 95773985 95773985 __UNKNOWN__ Missense_Mutation SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:95773985C>T ENST00000272418.2 - 5 780 c.572G>A c.(571-573)cGa>cAa p.R191Q NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 191 NA translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 ACTCCATCCTCGCTCCCGTTT 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 205 168 180 NA NA 2 NA 95773985 2203 4300 6503 SO:0001583 missense AB049940 CCDS2010.1 2p11.2-q11.2 2012-09-13 ENSG00000144029 ENSG00000144029 64969 Mitochondrial ribosomal proteins / small subunits 14498 protein-coding gene gene with protein product mitochondrial 28S ribosomal protein S5 611972 NA Standard NM_031902 NM_031902 NA Approved MRP-S5, S5mt uc002sub.3 P82675 OTTHUMG00000130394 ENST00000272418.2:c.572G>A chr2.hg19:g.95773985C>T ENSP00000272418:p.Arg191Gln NA Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4 hg19 CCDS2010.1 0.02 1.157771 CCTxGCT COVERED . . . . . . . . . . C 20.7 4.034599 0.75617 . . ENSG00000144029 ENST00000272418 . . . 5.08 5.08 0.68730 . 0.050282 0.85682 D 0.000000 D 0.83353 0.5236 M 0.84948 2.725 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.79784 0.989;0.993 D 0.86194 0.1614 9 0.87932 D 0 -4.5877 16.3231 0.82958 0.0:1.0:0.0:0.0 . 191;191 B4DIW8;P82675 .;RT05_HUMAN Q 191 . ENSP00000272418:R191Q R - 2 0 MRPS5 95137712 1.000000 0.71417 1.000000 0.80357 0.079000 0.17450 7.183000 0.77697 2.526000 0.85167 0.462000 0.41574 CGA NOVEL MRPS5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252772.1 8 20.765848 KEEP 0 0 0 69 2332 CC 1 0.999919 0 - 5 60 153 0 0 9.212404 89 60 3009 230 ENST00000272418.2 0.053191 0.999919 ANKRD36C 400986 __UNKNOWN__ __UNKNOWN__ 2 96604606 96604606 __UNKNOWN__ Missense_Mutation SNP C C A rs80350011 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:96604606C>A ENST00000456556.1 - 22 1688 c.1604G>T c.(1603-1605)gGa>gTa p.G535V Q5JPF3 AN36C_HUMAN ankyrin repeat domain 36C 535 NA ion channel inhibitor activity (GO:0008200) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 ATCCATACTTCCTAAGAATCT 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AL832836 2q11.1 2013-01-10 ENSG00000174501 ENSG00000174501 400986 Ankyrin repeat domain containing 32946 protein-coding gene gene with protein product protein immuno-reactive with anti-PTH polyclonal antibodies NA NA Standard NM_001010914 XR_251121 NA Approved DKFZp667P0924 uc002suz.1 Q5JPF3 OTTHUMG00000155211 ENST00000456556.1:c.1604G>T chr2.hg19:g.96604606C>A ENSP00000403302:p.Gly535Val NA C9JZ08|Q15694|Q53S06|Q658V2 hg19 0.02 5.568558 CTTxCTA COVERED . . . . . . . . . . N 9.151 1.016378 0.19355 . . ENSG00000174501 ENST00000456556 T 0.55052 0.54 1.22 1.22 0.21188 . . . . . T 0.46367 0.1389 . . . 0.09310 N 0.999999 . . . . . . T 0.41251 -0.9519 6 0.49607 T 0.09 . 5.819 0.18516 0.0:1.0:0.0:0.0 . . . . V 535 ENSP00000403302:G535V ENSP00000403302:G535V G - 2 0 AC073995.2 95968333 0.001000 0.12720 0.004000 0.12327 0.005000 0.04900 -0.271000 0.08572 0.949000 0.37715 0.290000 0.19541 GGA NOVEL ANKRD36C-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000338799.2 12 11.147777 KEEP 30 9 276 134 4687 CC 1 1 0 - 11 60 330 0 0 19.308394 209 60 7193 620 ENST00000456556.1 0.05 1 FAHD2B 151313 __UNKNOWN__ __UNKNOWN__ 2 97749407 97749407 __UNKNOWN__ 3'UTR SNP C C T rs79549240 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:97749407C>T ENST00000414820.1 - 0 1300 FAHD2B_ENST00000272610.3_3'UTR|FAHD2B_ENST00000440566.2_3'UTR Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B NA NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 CTGGCACCTGCCCACACCTGC 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2030.1 2q11.2 2012-06-29 ENSG00000144199 ENSG00000144199 151313 25318 protein-coding gene gene with protein product NA NA Standard NM_199336 NM_199336 NA Approved DKFZp434N062 uc002sxm.3 Q6P2I3 OTTHUMG00000130533 ENST00000414820.1:c.*85G>A chr2.hg19:g.97749407C>T NA D3DXH7|Q8NDK1 hg19 CCDS2030.1 0.02 4.47963 CTGxCCA COVERED NOVEL FAHD2B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339482.1 3 4.117469 KEEP 2 6 177 76 2609 CC 1 1 0 - 28 52 794 0 0 60.718014 130 60 4551 308 ENST00000414820.1 0.177215 1 IL18RAP 8807 __UNKNOWN__ __UNKNOWN__ 2 103057668 103057668 __UNKNOWN__ Intron SNP G G A rs11465700 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:103057668G>A ENST00000409369.1 + 5 617 IL18RAP_ENST00000264260.2_Intron O95256 I18RA_HUMAN interleukin 18 receptor accessory protein NA NA cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954) integral component of membrane (GO:0016021) receptor activity (GO:0004872) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TGAAGACAGAGCTCCAAGACA 0.403 NA NA G||| 1025 0.204673 0.2307 0.1787 5008 , , NA 20918 0.0744 NA 0.3449 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF077346 CCDS2061.1 2q12.1 2013-01-11 ENSG00000115607 ENSG00000115607 8807 Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5989 protein-coding gene gene with protein product 604509 NA 9792649 Standard NM_003853 XM_005264034 NA Approved AcPL, CD218b uc002tbx.3 O95256 OTTHUMG00000130777 ENST00000409369.1:c.305-104G>A chr2.hg19:g.103057668G>A NA B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5 hg19 0.02 1.549132 AGAxCTC COVERED NOVEL IL18RAP-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000329495.1 4 12.039001 KEEP 0 0 0 40 1415 GG 1 0.997898 0 + 4 60 133 0 0 8.478874 69 60 2486 160 ENST00000409369.1 0.054795 0.997898 SLC5A7 60482 __UNKNOWN__ __UNKNOWN__ 2 108604644 108604644 __UNKNOWN__ Missense_Mutation SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:108604644C>G ENST00000264047.2 + 2 309 c.33C>G c.(31-33)atC>atG p.I11M SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.I11M NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 11 NA acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGATAGCTATCATCGTGTTCT 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 154 143 147 NA NA 2 NA 108604644 2203 4300 6503 SO:0001583 missense AF276871 CCDS2074.1 2q12 2013-07-19 2013-07-19 ENSG00000115665 ENSG00000115665 60482 Solute carriers 14025 protein-coding gene gene with protein product 608761 solute carrier family 5 (choline transporter), member 7 NA 11027560 Standard NM_021815 NA Approved hCHT, CHT1 uc002tdv.3 Q9GZV3 OTTHUMG00000130959 ENST00000264047.2:c.33C>G chr2.hg19:g.108604644C>G ENSP00000264047:p.Ile11Met NA Q53TF2 hg19 CCDS2074.1 0.02 1.461438 TATxATC COVERED . . . . . . . . . . C 12.08 1.830110 0.32329 . . ENSG00000115665 ENST00000409059;ENST00000264047 D;D 0.92699 -3.09;-3.09 5.65 3.47 0.39725 . 0.000000 0.85682 D 0.000000 D 0.87928 0.6301 L 0.58428 1.81 0.80722 D 1 P 0.37276 0.589 B 0.36378 0.223 T 0.82713 -0.0321 10 0.37606 T 0.19 -2.5308 6.7223 0.23336 0.1404:0.6739:0.0:0.1857 . 11 Q9GZV3 SC5A7_HUMAN M 11 ENSP00000387346:I11M;ENSP00000264047:I11M ENSP00000264047:I11M I + 3 3 SLC5A7 107971076 1.000000 0.71417 0.999000 0.59377 0.981000 0.71138 1.116000 0.31221 0.599000 0.29845 0.655000 0.94253 ATC NOVEL SLC5A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253562.1 8 23.476325 KEEP 0 0 0 78 2744 CC 1 0.999487 0 + 4 60 132 0 0 8.261358 74 60 2535 230 ENST00000264047.2 0.051282 0.999487 ZC3H6 376940 __UNKNOWN__ __UNKNOWN__ 2 113091340 113091340 __UNKNOWN__ 3'UTR SNP A A G rs6758110 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:113091340A>G ENST00000409871.1 + 0 5246 AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_3'UTR NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 NA NA metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 AACAACTCCAATGTGTATTAA 0.328 NA NA A||| 3086 0.616214 0.8026 0.572 5008 , , NA 16170 0.7421 NA 0.3897 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK123404 CCDS46393.1 2q13 2012-07-05 2005-06-02 2005-06-02 ENSG00000188177 ENSG00000188177 376940 Zinc fingers, CCCH-type domain containing 24762 protein-coding gene gene with protein product NA zinc finger CCCH-type domain containing 6 ZC3HDC6 NA Standard NM_198581 NM_198581 NA Approved FLJ41410, FLJ45877, KIAA2035 uc002thq.1 P61129 OTTHUMG00000153286 ENST00000409871.1:c.*1275A>G chr2.hg19:g.113091340A>G NA A9JR71|Q6ZW96 hg19 CCDS46393.1 0.02 2.131914 CCAxTGT COVERED NOVEL ZC3H6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330551.1 3 6.018155 KEEP 0 0 0 20 622 AA 0.999863 0.967292 0 + 5 60 178 0 0 13.039235 47 60 1440 102 ENST00000409871.1 0.096154 0.967425 DPP10 57628 __UNKNOWN__ __UNKNOWN__ 2 115822286 115822286 __UNKNOWN__ Intron SNP T T G rs1509742 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:115822286T>G ENST00000410059.1 + 2 540 DPP10_ENST00000409163.1_Intron NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) serine-type peptidase activity (GO:0008236) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGTAAGATTCTGTGAGGGTGA 0.418 NA NA T||| 267 0.0533147 0.0129 0.0605 5008 , , NA 19000 0 NA 0.1412 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY172661 CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1 2q14.1 2010-05-04 2010-05-04 ENSG00000175497 ENSG00000175497 57628 20823 protein-coding gene gene with protein product 608209 dipeptidylpeptidase 10, dipeptidyl-peptidase 10 NA 10819331, 12662155 Standard NM_020868 NM_020868 NA Approved DPRP3 uc002tle.3 Q8N608 OTTHUMG00000153294 ENST00000410059.1:c.61-244529T>G chr2.hg19:g.115822286T>G NA A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236 hg19 CCDS46400.1 0.02 1.769038 TTCxGTG COVERED NOVEL DPP10-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000330580.4 7 19.558141 KEEP 0 0 0 65 2020 TT 1 0.999407 0 + 4 60 136 0 0 8.594034 77 60 2365 212 ENST00000410059.1 0.049383 0.999407 DDX18 8886 __UNKNOWN__ __UNKNOWN__ 2 118583940 118583940 __UNKNOWN__ Silent SNP C C T rs2303348 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:118583940C>T ENST00000263239.2 + 11 1745 c.1617C>T c.(1615-1617)cgC>cgT p.R539R NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 539 Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}. NA ATP catabolic process (GO:0006200) membrane (GO:0016020)|nucleolus (GO:0005730) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTTTTCTTCGCTACTTGAAAC 0.438 NA NA C||| 1521 0.303714 0.0378 0.3242 5008 , , NA 19496 0.5298 NA 0.3767 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 C 489,3917 225.9+/-241.6 29,431,1743 76 68 71 1617 -0.6 1 2 dbSNP_100 71 3361,5239 496.5+/-374.3 653,2055,1592 no coding-synonymous DDX18 NM_006773.3 682,2486,3335 TT,TC,CC 39.0814,11.0985,29.6017 539/671 118583940 3850,9156 2203 4300 6503 SO:0001819 synonymous_variant X98743 CCDS2120.1 2q21.2 2008-02-05 2003-06-13 ENSG00000088205 ENSG00000088205 8886 DEAD-boxes 2741 protein-coding gene gene with protein product 606355 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated) NA 8861962 Standard NM_006773 NM_006773 NA Approved MrDb uc002tlh.1 Q9NVP1 OTTHUMG00000058521 ENST00000263239.2:c.1617C>T chr2.hg19:g.118583940C>T NA Q6GTZ9|Q6IAU4|Q92732|Q9BQB7 hg19 CCDS2120.1 0.02 1.704339 TCGxTAC COVERED NOVEL DDX18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000129632.3 5 13.54465 KEEP 0 0 0 45 1644 CC 1 0.998993 0 + 6 60 186 0 0 12.284061 72 60 2520 167 ENST00000263239.2 0.076923 0.998993 PCDP1 0 __UNKNOWN__ __UNKNOWN__ 2 120406042 120406042 __UNKNOWN__ Intron SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:120406042T>G ENST00000413369.3 + 22 2405 PCDP1_ENST00000602047.1_Intron NM_001271049.1 NP_001257978 NA NA NA Colorectal(110;0.196) TGCTGCTGTATCTGTGACGAC 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000413369.3:c.2318+1416T>G chr2.hg19:g.120406042T>G NA hg19 CCDS33282.2 0.02 1.947734 GTAxCTG COVERED . . . . . . . . . . T 7.376 0.627783 0.14257 . . ENSG00000163075 ENST00000434869 . . . 1.37 1.37 0.22104 . . . . . T 0.25044 0.0608 . . . 0.18873 N 0.999989 . . . . . . T 0.21008 -1.0258 4 . . . . 4.8886 0.13715 0.0:0.0:0.0:1.0 . . . . A 89 . . S + 1 0 AC069154.2 120122512 0.011000 0.17503 0.048000 0.18961 0.038000 0.13279 0.119000 0.15626 0.866000 0.35629 0.374000 0.22700 TCT NOVEL PCDP1-006 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464236.1 3 18.948592 KEEP 0 0 0 63 1845 TT 1 0.997898 0 + 4 60 141 0 0 9.303045 68 60 2043 180 ENST00000413369.3 0.055556 0.997898 CNTNAP5 129684 __UNKNOWN__ __UNKNOWN__ 2 125672815 125672815 __UNKNOWN__ 3'UTR SNP G G A rs556769219 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:125672815G>A ENST00000431078.1 + 0 5235 NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 NA NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) atacacacacgcacacatata 0.303 NA NA G||| 20 0.00399361 0.0076 0.0029 5008 , , NA 15496 0.003 NA 0.004 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB077881 CCDS46401.1 2q14.1 2008-02-05 ENSG00000155052 ENSG00000155052 129684 18748 protein-coding gene gene with protein product 610519 NA Standard NM_130773 NA Approved caspr5, FLJ31966 uc002tno.3 Q8WYK1 OTTHUMG00000153356 ENST00000431078.1:c.*950G>A chr2.hg19:g.125672815G>A NA Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7 hg19 CCDS46401.1 0.02 1.213089 CACxCAC COVERED NOVEL CNTNAP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330864.3 23 7.09069 KEEP 0 2 58 44 1490 GG 1 0.999962 0 + 6 70 192 1 0 12.213341 94 60 3151 208 ENST00000431078.1 0.06 0.999962 CCDC74B 91409 __UNKNOWN__ __UNKNOWN__ 2 130902102 130902102 __UNKNOWN__ Intron SNP G G C rs113940060 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:130902102G>C ENST00000310463.6 - 1 388 CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409234.3_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000392984.3_Intron NM_207310.2 NP_997193.1 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B NA NA endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) TGCTGCCCTAGGAGACAGGCA 0.637 NA NA .||| 386 0.0770767 0.2769 0.0259 5008 , , NA 15608 0.001 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2155.1, CCDS58726.1 2q21.1 2006-11-29 2006-02-16 ENSG00000152076 ENSG00000152076 91409 25267 protein-coding gene gene with protein product NA NA Standard NM_207310 NM_001258307 NA Approved DKFZp434E2321 uc002tqn.2 Q96LY2 OTTHUMG00000131629 ENST00000310463.6:c.250+217C>G chr2.hg19:g.130902102G>C NA Q6NW18 hg19 CCDS2155.1 0.02 1.522838 CTAxGAG COVERED NOVEL CCDC74B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254522.3 4 11.104416 KEEP 20 2 54 56 2014 GG 1 0.998696 0 - 6 47 185 0 0 12.253665 70 60 2502 215 ENST00000310463.6 0.078947 0.998696 PTPN18 26469 __UNKNOWN__ __UNKNOWN__ 2 131132010 131132010 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:131132010A>G ENST00000175756.5 + 0 2697 PTPN18_ENST00000347849.3_3'UTR NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|nucleus (GO:0005634) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) caaagtgctgagattacaggt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X79568 CCDS2161.1, CCDS46410.1 2q21 2011-06-09 ENSG00000072135 ENSG00000072135 26469 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9649 protein-coding gene gene with protein product 606587 NA 8950995 Standard NM_014369 NA Approved BDP1 uc002trc.3 Q99952 OTTHUMG00000131630 ENST00000175756.5:c.*1213A>G chr2.hg19:g.131132010A>G NA B4E1E6|Q53P42 hg19 CCDS2161.1 0.02 4.024038 CTGxGAT COVERED NOVEL PTPN18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254523.2 25 9.698177 KEEP 0 2 71 57 1787 AA 1 0.999999 0 + 7 60 215 1 0 13.782978 99 60 3076 243 ENST00000175756.5 0.066038 0.999999 AC140481.2 0 __UNKNOWN__ __UNKNOWN__ 2 131334628 131334628 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:131334628T>C ENST00000409982.1 + 0 753 AC140481.2_ENST00000409793.1_Intron NA NA NA gtggctcacgtctgtaatccc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA NA ENST00000409982.1:c.*99T>C chr2.hg19:g.131334628T>C NA hg19 0.02 1.772831 ACGxCTG COVERED NOVEL AC140481.2-003 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000333364.2 14 6.587923 KEEP 10 2 69 46 1407 TT 1 0.999895 0 + 5 60 182 0 0 12.229006 84 60 2573 198 ENST00000409982.1 0.05618 0.999895 ARHGEF4 50649 __UNKNOWN__ __UNKNOWN__ 2 131672631 131672631 __UNKNOWN__ Missense_Mutation SNP G G A rs561566445 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:131672631G>A ENST00000409359.1 + 2 1320 c.122G>A c.(121-123)cGa>cAa p.R41Q Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 468 NA apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886) guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676) NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) AAAAATGAACGAGATCCAAGA 0.557 NA NA G||| 1 0.000199681 0 0 5008 , , NA 19411 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AL137289 CCDS2165.1, CCDS42754.1 2q22 2013-01-10 ENSG00000136002 ENSG00000136002 50649 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 684 protein-coding gene gene with protein product APC-stimulated guanine nucleotide exchange factor 605216 NA 10873612 Standard NM_015320 NA Approved STM6, KIAA1112, ASEF uc002tsa.1 Q9NR80 OTTHUMG00000131657 ENST00000409359.1:c.122G>A chr2.hg19:g.131672631G>A ENSP00000386794:p.Arg41Gln NA Q9HDC6|Q9UPP0 hg19 0.02 1.359936 AACxAGA COVERED . . . . . . . . . . G 12.42 1.931524 0.34096 . . ENSG00000136002 ENST00000409359 T 0.42513 0.97 3.98 -4.0 0.04057 . . . . . T 0.27098 0.0664 . . . 0.09310 N 1 . . . . . . T 0.31586 -0.9938 5 . . . . 6.3104 0.21161 0.5407:0.1427:0.3166:0.0 . . . . Q 41 ENSP00000386794:R41Q . R + 2 0 ARHGEF4 131389101 0.000000 0.05858 0.000000 0.03702 0.397000 0.30659 -1.094000 0.03359 -0.869000 0.04052 0.579000 0.79373 CGA NOVEL ARHGEF4-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000331307.2 2 2.206373 KEEP 0 3 87 38 1222 GG 1 0.997553 0 + 8 60 228 0 0 15.772979 63 60 2007 144 ENST00000409359.1 0.112676 0.997553 CCDC74A 90557 __UNKNOWN__ __UNKNOWN__ 2 132287953 132287953 __UNKNOWN__ Intron SNP G G A rs3101990 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:132287953G>A ENST00000295171.6 + 3 433 CCDC74A_ENST00000467992.2_Missense_Mutation_p.G135R|CCDC74A_ENST00000409856.3_Intron NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A NA NA endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 CCCTTCCCAGGGAGACATGGA 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2167.1, CCDS58732.1, CCDS74578.1 2q21.1 2008-02-05 2006-02-16 ENSG00000163040 ENSG00000163040 90557 25197 protein-coding gene gene with protein product NA NA 12477932 Standard NM_138770 NM_138770 NA Approved FLJ40345 uc002ttb.4 Q96AQ1 OTTHUMG00000131667 ENST00000295171.6:c.296-199G>A chr2.hg19:g.132287953G>A NA Q6P4I5 hg19 CCDS2167.1 0.02 1.392134 CAGxGAG COVERED . . . . . . . . . . . 0.519 -0.862983 0.02610 . . ENSG00000163040 ENST00000467992 T 0.58060 0.36 1.47 0.416 0.16416 . . . . . T 0.23846 0.0577 . . . 0.09310 N 1 . . . . . . T 0.20840 -1.0263 6 0.07813 T 0.8 . 4.7256 0.12939 0.0:0.0:0.6352:0.3648 rs3101990 . . . R 135 ENSP00000444610:G135R ENSP00000444610:G135R G + 1 0 CCDC74A 132004423 0.000000 0.05858 0.000000 0.03702 0.075000 0.17131 0.122000 0.15687 -0.065000 0.13021 0.194000 0.17425 GGA NOVEL CCDC74A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254570.2 1 7.25779 KEEP 5 1 31 35 1206 GG 0.999999 0.981954 0 + 4 49 121 0 0 7.724562 53 60 1866 136 ENST00000295171.6 0.070175 0.981955 CCDC74A 90557 __UNKNOWN__ __UNKNOWN__ 2 132288102 132288102 __UNKNOWN__ Intron SNP T T C rs116538008 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:132288102T>C ENST00000295171.6 + 3 433 CCDC74A_ENST00000467992.2_Silent_p.L184L|CCDC74A_ENST00000409856.3_Intron NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A NA NA endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 AGGCCATGCTTTCCCTCGGGA 0.632 NA NA N||| 1908 0.38099 0.5393 0.3963 5008 , , NA 13782 0.5337 NA 0.17 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 C 317,3025 2,313,1356 18 28 25 0.9 0 2 dbSNP_132 25 213,8015 0,213,3901 no intron CCDC74A NM_138770.1 2,526,5257 CC,CT,TT 2.5887,9.4853,4.5808 132288102 530,11040 1671 4114 5785 SO:0001627 intron_variant CCDS2167.1, CCDS58732.1, CCDS74578.1 2q21.1 2008-02-05 2006-02-16 ENSG00000163040 ENSG00000163040 90557 25197 protein-coding gene gene with protein product NA NA 12477932 Standard NM_138770 NM_138770 NA Approved FLJ40345 uc002ttb.4 Q96AQ1 OTTHUMG00000131667 ENST00000295171.6:c.296-50T>C chr2.hg19:g.132288102T>C NA Q6P4I5 hg19 CCDS2167.1 0.02 -0.377119 GCTxTCC COVERED NOVEL CCDC74A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254570.2 2 5.112519 KEEP 0 0 0 17 506 TT 0.999366 0.908493 0 + 4 27 128 0 0 8.934218 39 50 1171 82 ENST00000295171.6 0.093023 0.909069 CCDC74A 90557 __UNKNOWN__ __UNKNOWN__ 2 132290415 132290415 __UNKNOWN__ Intron SNP T T C rs202052126 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:132290415T>C ENST00000295171.6 + 6 1014 CCDC74A_ENST00000467992.2_Intron|CCDC74A_ENST00000409856.3_Intron NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A NA NA endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GGCCCCACCATGCCCCTGCCC 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 38 42 40 NA NA 2 NA 132290415 2202 4300 6502 SO:0001627 intron_variant CCDS2167.1, CCDS58732.1, CCDS74578.1 2q21.1 2008-02-05 2006-02-16 ENSG00000163040 ENSG00000163040 90557 25197 protein-coding gene gene with protein product NA NA 12477932 Standard NM_138770 NM_138770 NA Approved FLJ40345 uc002ttb.4 Q96AQ1 OTTHUMG00000131667 ENST00000295171.6:c.877-22T>C chr2.hg19:g.132290415T>C NA Q6P4I5 hg19 CCDS2167.1 0.02 -0.33324 CCAxGCC COVERED NOVEL CCDC74A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254570.2 3 9.021396 KEEP 1 0 0 30 865 TT 0.999997 0.851982 0 + 4 51 130 0 0 9.358131 34 60 982 84 ENST00000295171.6 0.105263 0.851984 LYPD6 130574 __UNKNOWN__ __UNKNOWN__ 2 150329973 150329973 __UNKNOWN__ 3'UTR SNP A A C rs871 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:150329973A>C ENST00000334166.4 + 0 3382 LYPD6_ENST00000409381.1_3'UTR NM_194317.3 NP_919298.1 Q86Y78 LYPD6_HUMAN LY6/PLAUR domain containing 6 NA NA extracellular region (GO:0005576) large_intestine(1)|lung(4) 5 BRCA - Breast invasive adenocarcinoma(221;0.0667) TTACATCTCAATATTGGTAAT 0.413 NA NA C||| 4567 0.911941 0.8843 0.964 5008 , , NA 21373 0.9891 NA 0.8827 False NA ,,, NA NA NA 2504 0.863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC047013 CCDS2188.1 2q23.2 2008-02-05 ENSG00000187123 ENSG00000187123 130574 28751 protein-coding gene gene with protein product 613359 NA 12477932 Standard NM_194317 NM_001195685 NA Approved MGC52057 uc021vqt.1 Q86Y78 OTTHUMG00000131852 ENST00000334166.4:c.*2609A>C chr2.hg19:g.150329973A>C NA B3KWC0|Q4G121|Q53TR3|Q659B1 hg19 CCDS2188.1 0.02 -0.412176 TCAxTAT COVERED NOVEL LYPD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254800.2 2 4.510247 KEEP 0 0 0 15 434 AA 0.99649 0.938436 0 + 3 60 104 0 0 7.047284 42 60 1246 82 ENST00000334166.4 0.066667 0.941741 LYPD6 130574 __UNKNOWN__ __UNKNOWN__ 2 150330618 150330618 __UNKNOWN__ 3'UTR SNP A A G rs1196669 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:150330618A>G ENST00000334166.4 + 0 4027 NM_194317.3 NP_919298.1 Q86Y78 LYPD6_HUMAN LY6/PLAUR domain containing 6 NA NA extracellular region (GO:0005576) large_intestine(1)|lung(4) 5 BRCA - Breast invasive adenocarcinoma(221;0.0667) AATTTATTATATTTTTCTTAG 0.294 NA NA A||| 3332 0.665335 0.3699 0.696 5008 , , NA 17698 0.8631 NA 0.7654 False NA ,,, NA NA NA 2504 0.7362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC047013 CCDS2188.1 2q23.2 2008-02-05 ENSG00000187123 ENSG00000187123 130574 28751 protein-coding gene gene with protein product 613359 NA 12477932 Standard NM_194317 NM_001195685 NA Approved MGC52057 uc021vqt.1 Q86Y78 OTTHUMG00000131852 ENST00000334166.4:c.*3254A>G chr2.hg19:g.150330618A>G NA B3KWC0|Q4G121|Q53TR3|Q659B1 hg19 CCDS2188.1 0.02 2.005929 TATxTTT COVERED NOVEL LYPD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254800.2 9 7.821646 KEEP 0 0 0 26 764 AA 0.999957 0.976823 0 + 5 60 169 0 0 12.012536 50 60 1440 106 ENST00000334166.4 0.090909 0.976865 MMADHC 27249 __UNKNOWN__ __UNKNOWN__ 2 150426362 150426362 __UNKNOWN__ 3'UTR SNP T T C rs6923 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:150426362T>C ENST00000428879.1 - 0 1521 MMADHC_ENST00000422782.2_3'UTR|MMADHC_ENST00000303319.5_3'UTR Q9H3L0 MMAD_HUMAN methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria NA NA cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrion (GO:0005739) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2) 11 GCCAATGTTGTAAATTCATAA 0.264 NA NA T||| 2770 0.553115 0.1997 0.5216 5008 , , NA 16196 0.8641 NA 0.6004 False NA ,,, NA NA NA 2504 0.684 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC023995 CCDS2189.1 2q23 2011-05-12 2009-01-08 2009-01-08 ENSG00000168288 ENSG00000168288 27249 25221 protein-coding gene gene with protein product 611935 chromosome 2 open reading frame 25 C2orf25 NA 18385497 Standard NM_015702 NM_015702 NA Approved CL25022, cblD uc002txc.3 Q9H3L0 OTTHUMG00000155558 ENST00000428879.1:c.*126A>G chr2.hg19:g.150426362T>C NA B2R895|D3DP91|O95891 hg19 CCDS2189.1 0.02 -0.131564 TTGxAAA COVERED NOVEL MMADHC-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000332312.1 3 2.70807 KEEP 0 0 0 9 274 TT 0.99254 0.227464 0 - 3 33 93 0 0 7.472521 12 60 366 38 ENST00000428879.1 0.2 0.229173 CACNB4 785 __UNKNOWN__ __UNKNOWN__ 2 152693977 152693977 __UNKNOWN__ 3'UTR SNP A A G rs62174451 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:152693977A>G ENST00000539935.1 - 0 3286 CACNB4_ENST00000360283.6_3'UTR NM_000726.3|NM_001145798.1 NP_000717.2|NP_001139270.1 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit NA NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810) cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891) voltage-gated calcium channel activity (GO:0005245) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) GTGCCTGAATACTGAAAGGCT 0.328 NA NA A||| 118 0.0235623 0.0378 0.013 5008 , , NA 16609 0.005 NA 0.0268 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF038852 CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1 2q22-q23 2009-09-04 ENSG00000182389 ENSG00000182389 785 Calcium channel subunits 1404 protein-coding gene gene with protein product 601949 NA 9628818 Standard NM_000726.3 NM_000726 NA Approved EJM4 uc002tya.3 O00305 OTTHUMG00000155091 ENST00000539935.1:c.*1656T>C chr2.hg19:g.152693977A>G NA A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40 hg19 CCDS46426.1 0.02 -0.359591 AATxCTG COVERED NOVEL CACNB4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000338385.4 4 7.820524 KEEP 0 0 0 26 754 AA 0.999957 0.888837 0 - 3 60 107 0 0 7.47206 38 60 1139 96 ENST00000539935.1 0.073171 0.888875 MARCH7 64844 __UNKNOWN__ __UNKNOWN__ 2 160625727 160625727 __UNKNOWN__ 3'UTR SNP C C G rs13432 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:160625727C>G ENST00000259050.4 + 0 4111 CD302_ENST00000259053.4_3'UTR|CD302_ENST00000480212.1_5'UTR NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase NA NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 ATTGTTATTACTAGCTAGAAC 0.323 NA NA C||| 1353 0.270168 0.0734 0.1614 5008 , , NA 18613 0.3373 NA 0.3479 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022973 CCDS2210.1, CCDS63038.1, CCDS63039.1 2q24.2 2013-01-09 2012-02-23 2005-01-27 ENSG00000136536 ENSG00000136536 64844 MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers 17393 protein-coding gene gene with protein product 613334 axotrophin, membrane-associated ring finger (C3HC4) 7 AXOT NA 14722266 Standard NM_022826 XM_005246773 NA Approved MARCH-VII, RNF177 uc002uax.3 Q9H992 OTTHUMG00000132029 ENST00000259050.4:c.*1874C>G chr2.hg19:g.160625727C>G NA A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9 hg19 CCDS2210.1 0.02 1.508675 TTAxTAG COVERED NOVEL MARCH7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255040.3 1 15.649621 KEEP 0 0 0 52 1823 CC 1 0.999804 0 + 5 60 172 0 0 11.22942 84 60 2894 200 ENST00000259050.4 0.05618 0.999804 SCN9A 6335 __UNKNOWN__ __UNKNOWN__ 2 167052362 167052362 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:167052362T>C ENST00000409672.1 - 0 9100 SCN9A_ENST00000375387.4_3'UTR|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_3'UTR NM_002977.3 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit NA NA behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) agtttgagactagcctgggca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X82835 CCDS46441.1 2q24 2014-09-17 2007-01-23 ENSG00000169432 ENSG00000169432 6335 Sodium channels, Voltage-gated ion channels / Sodium channels 10597 protein-coding gene gene with protein product 603415 sodium channel, voltage-gated, type IX, alpha polypeptide NA 7720699, 10198179, 16382098 Standard NM_002977 NM_002977 NA Approved Nav1.7, PN1, NE-NA, NENA, ETHA uc010fpl.3 Q15858 OTTHUMG00000154044 ENST00000409672.1:c.*2820A>G chr2.hg19:g.167052362T>C NA A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4 hg19 CCDS46441.1 0.02 3.801231 GACxAGC COVERED NOVEL SCN9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333636.1 44 14.205971 KEEP 0 2 62 69 2115 TT 1 1 0 - 7 60 230 0 0 14.661141 117 70 3579 296 ENST00000409672.1 0.056452 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170148799 170148799 __UNKNOWN__ Missense_Mutation SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:170148799C>A ENST00000443831.1 - 7 867 c.733G>T c.(733-735)Gat>Tat p.D245Y LRP2_ENST00000263816.3_Missense_Mutation_p.D245Y P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 245 LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) TTACAGTCATCTTCTCCATCA 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 161 146 151 NA NA 2 NA 170148799 2203 4300 6503 SO:0001583 missense CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000443831.1:c.733G>T chr2.hg19:g.170148799C>A ENSP00000409813:p.Asp245Tyr NA O00711|Q16215 hg19 0.02 1.263061 CATxTTC COVERED . . . . . . . . . . C 10.62 1.401854 0.25291 . . ENSG00000081479 ENST00000263816;ENST00000443831 D;D 0.95788 -3.81;-3.81 5.56 -2.08 0.07254 Low-density lipoprotein (LDL) receptor class A, conserved site (1); 0.785661 0.11847 N 0.523751 D 0.95121 0.8419 L 0.52759 1.655 0.09310 N 0.999999 D;D 0.63880 0.993;0.987 D;P 0.66196 0.942;0.882 D 0.88537 0.3107 9 . . . . 6.325 0.21239 0.0:0.4824:0.2079:0.3098 . 245;245 E9PC35;P98164 .;LRP2_HUMAN Y 245 ENSP00000263816:D245Y;ENSP00000409813:D245Y . D - 1 0 LRP2 169857045 0.023000 0.18921 0.000000 0.03702 0.001000 0.01503 1.501000 0.35693 -0.865000 0.04073 -0.150000 0.13652 GAT NOVEL LRP2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337306.1 4 17.75769 KEEP 0 0 0 59 2092 CC 1 0.999487 0 - 10 60 281 0 0 19.740137 71 60 2449 207 ENST00000443831.1 0.123457 0.999487 MYO3B 140469 __UNKNOWN__ __UNKNOWN__ 2 171319997 171319997 __UNKNOWN__ Intron SNP A A C rs12477518 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:171319997A>C ENST00000408978.4 + 24 2951 MYO3B_ENST00000334231.6_Intron|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Intron NM_138995.4 NP_620482.3 Q8WXR4 MYO3B_HUMAN myosin IIIB NA NA peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCTTCCAAAAAGGACTGTCTA 0.478 NA NA A||| 1778 0.355032 0.2103 0.4308 5008 , , NA 20740 0.1567 NA 0.6143 False NA ,,, NA NA NA 2504 0.4346 NA NA NA NA 0 A ,, 1064,2874 141,782,1046 54 55 55 ,, 1.5 0 2 dbSNP_120 55 4957,3375 1467,2023,676 no intron,intron,intron MYO3B NM_001083615.2,NM_001171642.1,NM_138995.3 ,, 1608,2805,1722 CC,CA,AA 40.5065,27.0188,49.0709 ,, ,, 171319997 6021,6249 1969 4166 6135 SO:0001627 intron_variant CCDS42773.1, CCDS46446.1 2q31.1-q31.2 2011-09-27 ENSG00000071909 ENSG00000071909 140469 Myosins / Myosin superfamily : Class III 15576 protein-coding gene gene with protein product 610040 NA Standard NM_001083615 NA Approved uc002ufy.3 Q8WXR4 OTTHUMG00000154002 ENST00000408978.4:c.2808+42A>C chr2.hg19:g.171319997A>C NA B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94 hg19 CCDS42773.1 0.02 -0.412278 AAAxGGA COVERED NOVEL MYO3B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333410.1 2 7.522915 KEEP 0 0 0 25 797 AA 0.999931 0.941676 0 + 3 60 102 0 0 6.847069 42 60 1338 112 ENST00000408978.4 0.066667 0.941741 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179427536 179427536 __UNKNOWN__ Missense_Mutation SNP T T C rs3829746 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:179427536T>C ENST00000589042.1 - 326 83547 c.83323A>G c.(83323-83325)Ata>Gta p.I27775V TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I18902V|TTN_ENST00000591111.1_Missense_Mutation_p.I26134V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I18835V|TTN_ENST00000460472.2_Missense_Mutation_p.I18710V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I25207V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26134 Fibronectin type-III 102. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTCTCTTATGGTCAAATTC 0.408 NA NA C||| 2546 0.508387 0.5658 0.4078 5008 , , NA 21726 0.7153 NA 0.2535 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 C VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE 2013,1773 546,921,426 64 58 60 56704,56503,75619,56128 5.2 1 2 dbSNP_107 60 1841,6417 193,1455,2481 yes missense,missense,missense,missense TTN NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4 29,29,29,29 739,2376,2907 CC,CT,TT 22.2935,46.8304,31.9993 benign,benign,benign,benign 18902/27119,18835/27052,25207/33424,18710/26927 179427536 3854,8190 1893 4129 6022 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.83323A>G chr2.hg19:g.179427536T>C ENSP00000467141:p.Ile27775Val NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 1.883253 TTAxGGT COVERED 980 0.44871794871794873 281 0.5711382113821138 129 0.356353591160221 385 0.6730769230769231 185 0.24406332453825857 C 9.433 1.086053 0.20390 0.531696 0.222935 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.53423 0.62;0.62;0.62;0.62 6.04 5.15 0.70609 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.02275 -0.615 0.39703 P 0.028781999999999974 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.04013 0.001;0.001;0.001;0.001 T 0.37314 -0.9711 8 0.87932 D 0 . 9.6301 0.39774 0.0:0.6833:0.0:0.3167 rs3829746;rs11565883;rs56750589;rs3829746 18710;18835;18902;26134 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN V 25207;18710;18902;18835;18708 ENSP00000343764:I25207V;ENSP00000434586:I18710V;ENSP00000340554:I18902V;ENSP00000352154:I18835V ENSP00000340554:I18902V I - 1 0 TTN 179135782 0.155000 0.22806 0.994000 0.49952 0.900000 0.52787 0.683000 0.25349 0.883000 0.36040 -0.215000 0.12644 ATA NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 4 11.429379 KEEP 0 0 0 38 1114 TT 1 0.996233 0 - 4 60 146 0 0 9.878439 65 60 1897 152 ENST00000589042.1 0.057971 0.996233 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179430414 179430414 __UNKNOWN__ Silent SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:179430414G>A ENST00000589042.1 - 326 80669 c.80445C>T c.(80443-80445)taC>taT p.Y26815Y TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.Y17942Y|TTN_ENST00000591111.1_Silent_p.Y25174Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Y17875Y|TTN_ENST00000460472.2_Silent_p.Y17750Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.Y24247Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25174 Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) p.Y17750Y(1)|p.Y24245Y(1)|p.Y17942Y(1)|p.Y17875Y(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCAACAACGTACCCCAGGA 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - coding silent(4) large_intestine(4) 177 172 174 NA NA 2 NA 179430414 1993 4174 6167 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.80445C>T chr2.hg19:g.179430414G>A NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 1.120234 AACxTAC COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 5 18.959923 KEEP 0 0 0 63 2122 GG 1 0.999768 0 - 5 60 140 0 0 8.067126 83 60 2786 219 ENST00000589042.1 0.056818 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 184129358 184129358 __UNKNOWN__ IGR SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:184129358C>A NA NA RP11-438L19.1 (49230 upstream) : AC093639.1 (639897 downstream) NA NA NA ACTTACACACCCACACACATA 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr2.hg19:g.184129358C>A NA hg19 0.02 4.633752 CACxCAC COVERED NOVEL 0 51 31.00409 KEEP 1 3 94 136 4703 CC 1 1 0 12 60 363 0 2 23.703791 143 60 4981 428 0.077419 1 MYO1B 4430 __UNKNOWN__ __UNKNOWN__ 2 192141570 192141570 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:192141570T>C ENST00000392318.3 + 2 238 MYO1B_ENST00000304164.4_Intron|MYO1B_ENST00000339514.4_Intron NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB NA NA actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892) actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TATTTGAAATTATTTTGCTCG 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 82 74 76 NA NA 2 NA 192141570 876 1991 2867 SO:0001627 intron_variant L29138 CCDS2311.1, CCDS46477.1 2q12-q34 2011-09-27 ENSG00000128641 ENSG00000128641 4430 Myosins / Myosin superfamily : Class I 7596 protein-coding gene gene with protein product 606537 NA 8022818, 8449985 Standard NM_012223 NM_012223 NA Approved myr1 uc010fsg.2 O43795 OTTHUMG00000132718 ENST00000392318.3:c.-9-43T>C chr2.hg19:g.192141570T>C NA O43794|Q7Z6L5 hg19 CCDS46477.1 0.02 1.620068 AATxATT COVERED NOVEL MYO1B-010 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334774.1 7 20.147677 KEEP 0 0 0 67 1862 TT 1 0.999956 0 + 4 60 138 0 0 8.456344 94 60 2709 245 ENST00000392318.3 0.040816 0.999956 TYW5 129450 __UNKNOWN__ __UNKNOWN__ 2 200795571 200795571 __UNKNOWN__ 3'UTR SNP A A G rs6435036 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:200795571A>G ENST00000354611.4 - 0 3432 C2orf69_ENST00000491721.1_Intron NM_001039693.2 NP_001034782.1 A2RUC4 TYW5_HUMAN tRNA-yW synthesizing protein 5 NA NA wybutosine biosynthetic process (GO:0031591) iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1) 8 TCATTAAGCAATCTGggttgg 0.393 NA NA A||| 2530 0.505192 0.5242 0.3775 5008 , , NA 16183 0.3919 NA 0.5457 False NA ,,, NA NA NA 2504 0.6452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095272 CCDS42795.1 2q33.1 2011-05-09 2011-05-09 2011-05-09 ENSG00000162971 ENSG00000162971 129450 26754 protein-coding gene gene with protein product NA chromosome 2 open reading frame 60 C2orf60 NA 20739293 Standard NM_001039693 NM_001039693 NA Approved FLJ37953 uc002uvi.4 A2RUC4 OTTHUMG00000132770 ENST00000354611.4:c.*2219T>C chr2.hg19:g.200795571A>G NA B2RNE3|Q8N1R2 hg19 CCDS42795.1 0.02 1.654602 GCAxTCT COVERED NOVEL TYW5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256144.3 5 9.325878 KEEP 0 0 0 31 936 AA 0.999997 0.98954 0 - 4 60 126 0 0 8.103624 57 60 1696 124 ENST00000354611.4 0.065574 0.989542 AOX1 316 __UNKNOWN__ __UNKNOWN__ 2 201457954 201457954 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:201457954A>G ENST00000374700.2 + 2 344 NM_001159.3 NP_001150.3 Q06278 AOXA_HUMAN aldehyde oxidase 1 NA NA inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTGACTGTGTATGTGTGTGTG 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 230 191 204 NA NA 2 NA 201457954 2203 4300 6503 SO:0001627 intron_variant AF017060 CCDS33360.1 2q33 2008-05-20 ENSG00000138356 ENSG00000138356 316 553 protein-coding gene gene with protein product 602841 NA 7570184 Standard NM_001159 NM_001159 NA Approved AO, AOH1 uc002uvx.3 Q06278 OTTHUMG00000154536 ENST00000374700.2:c.103+28A>G chr2.hg19:g.201457954A>G NA O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6 hg19 CCDS33360.1 0.02 3.493673 TGTxTGT COVERED NOVEL AOX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335844.1 13 28.880131 KEEP 0 0 0 96 2870 AA 1 1 0 + 5 60 173 0 0 10.522355 123 60 3621 336 ENST00000374700.2 0.039062 1 ALS2 57679 __UNKNOWN__ __UNKNOWN__ 2 202624929 202624929 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:202624929A>G ENST00000264276.6 - 4 1486 ALS2_ENST00000467448.1_3'UTR NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) NA NA behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050) centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982) protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 agctacttggaaggctgaaat 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB053305 CCDS42800.1, CCDS46492.1 2q33-q35 2014-09-17 2004-06-23 ENSG00000003393 ENSG00000003393 57679 Rho guanine nucleotide exchange factors 443 protein-coding gene gene with protein product alsin 606352 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6 ALS2CR6 NA 11586298 Standard NM_020919 NM_020919 NA Approved uc002uyo.3 Q96Q42 OTTHUMG00000154507 ENST00000264276.6:c.1113+674T>C chr2.hg19:g.202624929A>G NA Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9 hg19 CCDS42800.1 0.02 1.879978 TGGxAGG COVERED NOVEL ALS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335562.3 14 3.241792 KEEP 0 2 69 35 1012 AA 1 0.984161 0 - 4 60 134 0 0 9.054167 52 60 1552 121 ENST00000264276.6 0.071429 0.984161 DYTN 391475 __UNKNOWN__ __UNKNOWN__ 2 207558078 207558078 __UNKNOWN__ Intron SNP G G A rs527391043 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:207558078G>A ENST00000452335.2 - 9 948 NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin NA NA plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TTTAAAAAGCGTCAGATCAGT 0.418 NA NA G||| 24 0.00479233 0 0 5008 , , NA 20145 0 NA 0 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 60 56 57 NA NA 2 NA 207558078 1869 4110 5979 SO:0001627 intron_variant ABF55377 CCDS46502.1 2q33.3 2007-01-22 ENSG00000232125 ENSG00000232125 391475 23279 protein-coding gene gene with protein product NA NA 17233888 Standard NM_001093730 NA Approved uc002vbr.1 A2CJ06 OTTHUMG00000154729 ENST00000452335.2:c.832-31C>T chr2.hg19:g.207558078G>A NA hg19 CCDS46502.1 0.02 0.897011 AGCxTCA COVERED NOVEL DYTN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336799.1 7 15.34891 KEEP 0 0 0 51 1738 GG 1 0.999862 0 - 5 60 135 0 0 7.546583 84 60 2866 219 ENST00000452335.2 0.05618 0.999862 CPS1 1373 __UNKNOWN__ __UNKNOWN__ 2 211543089 211543089 __UNKNOWN__ 3'UTR SNP C C G rs10932349 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:211543089C>G ENST00000233072.5 + 0 5079 CPS1_ENST00000430249.2_3'UTR|CPS1_ENST00000451903.2_3'UTR NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial NA NA anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) Carglumic Acid(DB06775) TTTTAAAACACTATCTGCAAA 0.294 NA NA G||| 300 0.0599042 0.0825 0.062 5008 , , NA 16795 0.003 NA 0.0865 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF154830 CCDS2393.1, CCDS46505.1, CCDS46506.1 2p 2014-09-17 2010-05-11 ENSG00000021826 ENSG00000021826 1373 6.3.4.16 2323 protein-coding gene gene with protein product 608307 carbamoyl-phosphate synthetase 1, mitochondrial NA Standard NM_001122633 NA Approved uc002vee.4 P31327 OTTHUMG00000132994 ENST00000233072.5:c.*380C>G chr2.hg19:g.211543089C>G NA B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5 hg19 CCDS2393.1 0.02 1.622297 ACAxTAT COVERED NOVEL CPS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256569.5 4 11.437518 KEEP 0 0 0 38 1357 CC 1 0.998695 0 + 4 60 132 0 0 8.307569 72 60 2535 155 ENST00000233072.5 0.052632 0.998696 CPS1 1373 __UNKNOWN__ __UNKNOWN__ 2 211543147 211543147 __UNKNOWN__ 3'UTR SNP T T G rs7684 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:211543147T>G ENST00000233072.5 + 0 5137 CPS1_ENST00000430249.2_3'UTR|CPS1_ENST00000451903.2_3'UTR NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial NA NA anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) Carglumic Acid(DB06775) TTGATAAAATTAAATATAGAT 0.308 NA NA G||| 1347 0.26897 0.3359 0.3357 5008 , , NA 16701 0.0099 NA 0.4095 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF154830 CCDS2393.1, CCDS46505.1, CCDS46506.1 2p 2014-09-17 2010-05-11 ENSG00000021826 ENSG00000021826 1373 6.3.4.16 2323 protein-coding gene gene with protein product 608307 carbamoyl-phosphate synthetase 1, mitochondrial NA Standard NM_001122633 NA Approved uc002vee.4 P31327 OTTHUMG00000132994 ENST00000233072.5:c.*438T>G chr2.hg19:g.211543147T>G NA B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5 hg19 CCDS2393.1 0.02 1.713388 AATxAAA COVERED NOVEL CPS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256569.5 5 13.232108 KEEP 0 0 0 44 1273 TT 1 0.998867 0 + 5 60 168 0 0 11.183217 71 60 2058 158 ENST00000233072.5 0.065789 0.998867 ERBB4 2066 __UNKNOWN__ __UNKNOWN__ 2 212242745 212242745 __UNKNOWN__ 3'UTR SNP G G C rs1595064 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:212242745G>C ENST00000342788.4 - 0 9832 ERBB4_ENST00000436443.1_3'UTR NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 NA NA cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) Afatinib(DB08916) ACAAAGTGGGGTGTAGGATCT 0.443 NA NA TSP Lung(8;0.080) G||| 2463 0.491813 0.6044 0.3833 5008 , , NA 17916 0.4355 NA 0.3579 False NA ,,, NA NA NA 2504 0.6125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L07868 CCDS2394.1, CCDS42811.1 2q33.3-q34 2013-10-11 2013-07-09 ENSG00000178568 ENSG00000178568 2066 3432 protein-coding gene gene with protein product 600543 v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4 NA 7700649, 17018285 Standard NM_001042599 NM_001042599 NA Approved ALS19 uc002veg.1 Q15303 OTTHUMG00000133012 ENST00000342788.4:c.*5595C>G chr2.hg19:g.212242745G>C NA B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4 hg19 CCDS2394.1 0.02 -0.403538 GGGxTGT COVERED NOVEL ERBB4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256597.1 6 6.920814 KEEP 0 0 0 23 772 GG 0.999892 0.934391 0 - 3 60 104 0 0 7.046507 42 60 1443 94 ENST00000342788.4 0.066667 0.934492 ERBB4 2066 __UNKNOWN__ __UNKNOWN__ 2 212243011 212243011 __UNKNOWN__ 3'UTR SNP T T C rs16845990 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:212243011T>C ENST00000342788.4 - 0 9566 ERBB4_ENST00000436443.1_3'UTR NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 NA NA cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) Afatinib(DB08916) AAATTGGGGCTTAGAGTCATT 0.433 NA NA TSP Lung(8;0.080) T||| 2274 0.454073 0.4637 0.3703 5008 , , NA 17190 0.4415 NA 0.3579 False NA ,,, NA NA NA 2504 0.6125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L07868 CCDS2394.1, CCDS42811.1 2q33.3-q34 2013-10-11 2013-07-09 ENSG00000178568 ENSG00000178568 2066 3432 protein-coding gene gene with protein product 600543 v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4 NA 7700649, 17018285 Standard NM_001042599 NM_001042599 NA Approved ALS19 uc002veg.1 Q15303 OTTHUMG00000133012 ENST00000342788.4:c.*5329A>G chr2.hg19:g.212243011T>C NA B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4 hg19 CCDS2394.1 0.02 -0.245604 GGCxTAG COVERED NOVEL ERBB4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256597.1 4 3.91216 KEEP 0 0 0 13 419 TT 0.994391 0.63775 0 - 4 60 140 0 0 10.990809 23 60 713 50 ENST00000342788.4 0.148148 0.641347 ERBB4 2066 __UNKNOWN__ __UNKNOWN__ 2 212244952 212244952 __UNKNOWN__ 3'UTR SNP G G A rs1836724 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:212244952G>A ENST00000342788.4 - 0 7625 ERBB4_ENST00000436443.1_3'UTR NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 NA NA cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) Afatinib(DB08916) CAGAAAACCAGGAGCTGCTTG 0.403 NA NA TSP Lung(8;0.080) A||| 3028 0.604633 0.3964 0.6354 5008 , , NA 17499 0.7163 NA 0.6004 False NA ,,, NA NA NA 2504 0.7536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L07868 CCDS2394.1, CCDS42811.1 2q33.3-q34 2013-10-11 2013-07-09 ENSG00000178568 ENSG00000178568 2066 3432 protein-coding gene gene with protein product 600543 v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4 NA 7700649, 17018285 Standard NM_001042599 NM_001042599 NA Approved ALS19 uc002veg.1 Q15303 OTTHUMG00000133012 ENST00000342788.4:c.*3388C>T chr2.hg19:g.212244952G>A NA B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4 hg19 CCDS2394.1 0.02 -0.280729 CCAxGAG COVERED NOVEL ERBB4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256597.1 4 2.708379 KEEP 0 0 0 9 297 GG 0.99254 0.734154 0 - 4 60 133 0 0 9.973686 28 60 977 53 ENST00000342788.4 0.125 0.739671 ERBB4 2066 __UNKNOWN__ __UNKNOWN__ 2 212245489 212245489 __UNKNOWN__ 3'UTR SNP A A G rs4672612 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:212245489A>G ENST00000342788.4 - 0 7088 ERBB4_ENST00000436443.1_3'UTR NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 NA NA cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) Afatinib(DB08916) TCCTACATGCATCTCTAGGTA 0.308 NA NA TSP Lung(8;0.080) G||| 3066 0.61222 0.4077 0.6427 5008 , , NA 16840 0.7192 NA 0.6133 False NA ,,, NA NA NA 2504 0.7556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L07868 CCDS2394.1, CCDS42811.1 2q33.3-q34 2013-10-11 2013-07-09 ENSG00000178568 ENSG00000178568 2066 3432 protein-coding gene gene with protein product 600543 v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4 NA 7700649, 17018285 Standard NM_001042599 NM_001042599 NA Approved ALS19 uc002veg.1 Q15303 OTTHUMG00000133012 ENST00000342788.4:c.*2851T>C chr2.hg19:g.212245489A>G NA B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4 hg19 CCDS2394.1 0.02 -0.254246 TGCxTCT COVERED NOVEL ERBB4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256597.1 2 3.309192 KEEP 0 0 0 11 335 AA 0.993072 0.663892 0 - 3 60 99 0 0 7.193377 25 60 753 59 ENST00000342788.4 0.107143 0.668523 RPL37A 6168 __UNKNOWN__ __UNKNOWN__ 2 217366793 217366793 __UNKNOWN__ 3'UTR SNP A A T rs370222353 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:217366793A>T ENST00000491306.1 + 0 1631 RPL37A_ENST00000598925.1_Intron|RPL37A_ENST00000441179.2_Intron|RPL37A_ENST00000427280.2_Intron|RPL37A_ENST00000446558.1_Intron|RPL37A_ENST00000600880.1_Intron NM_000998.4 NP_000989.1 P61513 RL37A_HUMAN ribosomal protein L37a NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) NS(1)|ovary(1) 2 Renal(323;0.0458) Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ctcacgcctgaaatcccagca 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2404.1 2q35 2011-04-06 ENSG00000197756 ENSG00000197756 6168 L ribosomal proteins 10348 protein-coding gene gene with protein product 613314 NA 1437567 Standard NM_000998 NM_000998 NA Approved L37A uc002vgf.3 P61513 OTTHUMG00000133052 ENST00000491306.1:c.*666A>T chr2.hg19:g.217366793A>T NA P12751|Q6FGF5 hg19 CCDS2404.1 0.02 0.916428 CTGxAAT COVERED NOVEL RPL37A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256665.2 8 5.816433 KEEP 0 3 72 45 1439 AA 1 0.999962 0 + 6 60 163 0 0 9.609703 84 60 2643 200 ENST00000491306.1 0.066667 0.999962 RPL37A 6168 __UNKNOWN__ __UNKNOWN__ 2 217366811 217366811 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:217366811T>A ENST00000491306.1 + 0 1649 RPL37A_ENST00000598925.1_Intron|RPL37A_ENST00000441179.2_Intron|RPL37A_ENST00000427280.2_Intron|RPL37A_ENST00000446558.1_Intron|RPL37A_ENST00000600880.1_Intron NM_000998.4 NP_000989.1 P61513 RL37A_HUMAN ribosomal protein L37a NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) NS(1)|ovary(1) 2 Renal(323;0.0458) Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) gcactttgggtggctgaggca 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2404.1 2q35 2011-04-06 ENSG00000197756 ENSG00000197756 6168 L ribosomal proteins 10348 protein-coding gene gene with protein product 613314 NA 1437567 Standard NM_000998 NM_000998 NA Approved L37A uc002vgf.3 P61513 OTTHUMG00000133052 ENST00000491306.1:c.*684T>A chr2.hg19:g.217366811T>A NA P12751|Q6FGF5 hg19 CCDS2404.1 0.02 3.186615 GGGxGGC COVERED NOVEL RPL37A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256665.2 21 9.522113 KEEP 0 3 89 63 1836 TT 1 1 0 + 8 60 242 1 0 15.009699 121 60 3541 302 ENST00000491306.1 0.062016 1 TNS1 7145 __UNKNOWN__ __UNKNOWN__ 2 218665262 218665262 __UNKNOWN__ 3'UTR SNP G G A rs78530010 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:218665262G>A ENST00000171887.4 - 0 9580 NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 NA NA cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) poly(A) RNA binding (GO:0044822) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CAAAacacacgcacacacata 0.547 NA NA .||| 147 0.029353 0.0015 0.013 5008 , , NA 21452 0.0685 NA 0.0169 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209238 CCDS2407.1 2q35-q36 2014-06-13 2005-05-13 2005-05-13 ENSG00000079308 ENSG00000079308 7145 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs, SH2 domain containing 11973 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 155 600076 tensin, matrix-remodelling associated 6 TNS, MXRA6 NA Standard NM_022648 NM_022648 NA Approved DKFZp586K0617, PPP1R155 uc002vgt.2 Q9HBL0 OTTHUMG00000133056 ENST00000171887.4:c.*3920C>T chr2.hg19:g.218665262G>A NA Q4ZG71|Q6IPI5 hg19 CCDS2407.1 0.02 6.748463 CACxCAC COVERED NOVEL TNS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256672.2 44 34.945655 KEEP 0 4 128 161 5394 GG 1 1 0 - 9 60 262 0 1 13.4162 260 60 8781 640 ENST00000171887.4 0.033457 1 GLB1L 79411 __UNKNOWN__ __UNKNOWN__ 2 220101768 220101768 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:220101768A>G ENST00000295759.7 - 0 2304 GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_3'UTR|GLB1L_ENST00000392089.2_3'UTR|GLB1L_ENST00000356283.3_3'UTR Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like NA NA carbohydrate metabolic process (GO:0005975) extracellular region (GO:0005576) beta-galactosidase activity (GO:0004565) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) gattacaggcatgagccacca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 54 50 51 NA NA 2 NA 220101768 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS2437.1, CCDS74657.1 2q36.1 2008-02-05 ENSG00000163521 ENSG00000163521 79411 28129 protein-coding gene gene with protein product NA NA 12975309 Standard NM_024506 XM_005246850 NA Approved MGC10771 uc002vkm.3 Q6UWU2 OTTHUMG00000133133 ENST00000295759.7:c.*26T>C chr2.hg19:g.220101768A>G NA Q96DR0 hg19 CCDS2437.1 0.02 5.809489 GGCxTGA COVERED NOVEL GLB1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256822.2 28 3.820404 KEEP 2 6 213 87 2645 AA 1 1 0 - 6 60 206 0 0 12.393535 152 60 4587 372 ENST00000295759.7 0.037975 1 SLC19A3 80704 __UNKNOWN__ __UNKNOWN__ 2 228551073 228551073 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:228551073T>C ENST00000258403.3 - 0 2602 SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 NA NA small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) thiamine uptake transmembrane transporter activity (GO:0015403) breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) cttactctgttgcccaggctg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF271633 CCDS2468.1 2q37 2013-07-18 2013-07-18 ENSG00000135917 ENSG00000135917 80704 Solute carriers 16266 protein-coding gene gene with protein product thiamine transporter 2 606152 solute carrier family 19, member 3 NA 11136550, 15871139 Standard XM_005246871 NA Approved THTR2 uc002vpi.3 Q9BZV2 OTTHUMG00000133185 ENST00000258403.3:c.*1040A>G chr2.hg19:g.228551073T>C NA hg19 CCDS2468.1 0.02 1.660762 TGTxGCC COVERED NOVEL SLC19A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256894.1 19 9.756488 KEEP 0 1 33 44 1296 TT 1 0.999559 0 - 4 60 135 0 0 8.631347 71 60 2088 160 ENST00000258403.3 0.053333 0.999559 SP140 11262 __UNKNOWN__ __UNKNOWN__ 2 231103787 231103787 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:231103787G>A ENST00000343805.6 + 3 506 SP140_ENST00000486687.2_Intron|SP140_ENST00000373645.3_3'UTR|SP140_ENST00000417495.3_Intron|SP140_ENST00000392045.3_Intron|SP140_ENST00000420434.3_Intron|SP140_ENST00000350136.5_Intron NM_001278452.1 NP_001265381.1 Q13342 SP140_HUMAN SP140 nuclear body protein NA NA defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GCATTTAAACGGGAAAAGTAA 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U63420 CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1 2q37.1 2013-01-28 ENSG00000079263 ENSG00000079263 11262 Zinc fingers, PHD-type 17133 protein-coding gene gene with protein product 608602 NA 8695863, 8910577, 12368356 Standard NM_007237 NM_001005176 NA Approved LYSP100-B, LYSP100-A uc002vql.3 Q13342 OTTHUMG00000153670 ENST00000343805.6:c.406+691G>A chr2.hg19:g.231103787G>A NA E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3 hg19 0.02 -0.4386 AACxGGA COVERED NOVEL SP140-009 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000338219.1 0 8.726807 KEEP 0 0 0 29 974 GG 0.999997 0.959856 0 + 4 60 120 0 0 7.86054 46 60 1538 114 ENST00000343805.6 0.08 0.959859 B3GNT7 93010 __UNKNOWN__ __UNKNOWN__ 2 232263127 232263127 __UNKNOWN__ Missense_Mutation SNP G G A rs2290130 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:232263127G>A ENST00000287590.5 + 2 958 c.697G>A c.(697-699)Gtc>Atc p.V233I NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 233 NA V -> I (in dbSNP:rs2290130). carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) galactosyltransferase activity (GO:0008378) endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) CTGCCCCCACGTCCCCTTCAT 0.557 NA NA G||| 1168 0.233227 0.1551 0.2378 5008 , , NA 17143 0.2381 NA 0.2833 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 G ILE/VAL 642,3600 55,532,1534 102 110 108 697 3.8 0.4 2 dbSNP_100 108 2069,6407 260,1549,2429 yes missense B3GNT7 NM_145236.2 29 315,2081,3963 AA,AG,GG 24.4101,15.1344,21.3162 benign 233/402 232263127 2711,10007 2121 4238 6359 SO:0001583 missense AK000770 CCDS46540.1 2q36.1 2013-02-21 ENSG00000156966 ENSG00000156966 93010 Beta 3-glycosyltransferases 18811 protein-coding gene gene with protein product 615313 NA 12061784 Standard NM_145236 NM_145236 NA Approved beta3GnT7 uc002vrs.3 Q8NFL0 OTTHUMG00000153880 ENST00000287590.5:c.697G>A chr2.hg19:g.232263127G>A ENSP00000287590:p.Val233Ile NA B3KWY4|B7WNP0 hg19 CCDS46540.1 0.02 4.225319 CACxTCC COVERED 519 0.23763736263736263 90 0.18292682926829268 77 0.212707182320442 132 0.23076923076923078 220 0.29023746701846964 G 13.31 2.200387 0.38905 0.151344 0.244101 ENSG00000156966 ENST00000287590 T 0.41065 1.01 4.71 3.84 0.44239 . 0.343906 0.30168 N 0.010260 T 0.00012 0.0000 L 0.52126 1.63 0.50632 P 1.1399999999994748E-4 P 0.52577 0.954 B 0.39339 0.297 T 0.30851 -0.9964 9 0.36615 T 0.2 . 10.276 0.43510 0.167:0.0:0.833:0.0 rs2290130;rs17612615;rs52793391;rs58977067;rs2290130 233 Q8NFL0 B3GN7_HUMAN I 233 ENSP00000287590:V233I ENSP00000287590:V233I V + 1 0 B3GNT7 231971371 1.000000 0.71417 0.374000 0.26016 0.925000 0.55904 4.133000 0.57983 0.988000 0.38734 0.655000 0.94253 GTC NOVEL B3GNT7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000332827.1 8 36.847171 KEEP 0 1 30 133 4386 GG 1 1 0 + 7 60 212 0 0 11.593573 180 60 5912 424 ENST00000287590.5 0.037433 1 ALPPL2 251 __UNKNOWN__ __UNKNOWN__ 2 233273207 233273207 __UNKNOWN__ Intron SNP G G A rs2945421 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:233273207G>A ENST00000295453.3 + 7 835 NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 NA NA dephosphorylation (GO:0016311) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872) breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143) CTCCCTCCCCGCAGGGTGCCC 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 74 70 72 NA NA 2 NA 233273207 2202 4284 6486 SO:0001627 intron_variant J04948 CCDS2491.1 2q37 2008-05-20 ENSG00000163286 ENSG00000163286 251 441 protein-coding gene gene with protein product 171810 NA Standard NM_031313 NM_031313 NA Approved uc002vss.4 P10696 OTTHUMG00000133257 ENST00000295453.3:c.784-4G>A chr2.hg19:g.233273207G>A NA A8KAF2|Q16727|Q53S81|Q96CM1 hg19 CCDS2491.1 0.02 1.330854 CCCxCAG COVERED NOVEL ALPPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257034.2 2 7.522793 KEEP 4 0 0 25 820 GG 0.999931 0.992857 0 + 5 27 150 0 0 9.808039 58 60 1876 109 ENST00000295453.3 0.079365 0.992926 UGT1A6 54578 __UNKNOWN__ __UNKNOWN__ 2 234678126 234678126 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:234678126C>T ENST00000305139.6 + 4 1440 UGT1A1_ENST00000360418.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A8_ENST00000305208.5_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608383.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron NM_001072.3 NP_001063.2 P19224 UD16_HUMAN UDP glucuronosyltransferase 1 family, polypeptide A6 NA NA cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313) tgtgtgtgtgcgtgtgtTTAT 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M84130 CCDS2507.1, CCDS2508.1 2q37 2010-03-05 2005-07-20 ENSG00000167165 ENSG00000167165 54578 UDP glucuronosyltransferases 12538 other complex locus constituent 606431 UDP glycosyltransferase 1 family, polypeptide A6 NA 9295054, 1339448 Standard NM_205862 NM_001072 NA Approved HLUGP, GNT1, UGT1F P19224 OTTHUMG00000059122 ENST00000305139.6:c.1301+1041C>T chr2.hg19:g.234678126C>T NA A6NKK6|B8K289|Q96TE7 hg19 CCDS2507.1 0.02 1.607756 GTGxGTG COVERED NOVEL UGT1A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130988.1 12 4.820696 KEEP 0 1 28 26 849 CC 0.999988 0.976853 0 + 6 60 186 0 0 13.443724 45 60 1554 116 ENST00000305139.6 0.117647 0.976865 MROH2A 339766 __UNKNOWN__ __UNKNOWN__ 2 234708824 234708824 __UNKNOWN__ Intron SNP T T G rs55686299 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:234708824T>G ENST00000389758.3 + 14 1615 A6NES4 MRO2A_HUMAN maestro heat-like repeat family member 2A NA NA NA AGGCCACAGGTGGGAATCCCT 0.537 NA NA T||| 686 0.136981 0.2769 0.1037 5008 , , NA 20547 0.0367 NA 0.1581 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS74674.1 2q37.1 2012-12-19 2012-12-19 2012-12-19 ENSG00000185038 ENSG00000185038 339766 maestro heat-like repeat containing 27936 protein-coding gene gene with protein product NA HEAT repeat containing 7B1 HEATR7B1 NA 12477932 Standard XM_291007 NM_001287395 NA Approved A6NES4 OTTHUMG00000059037 ENST00000389758.3:c.1450-27T>G chr2.hg19:g.234708824T>G NA hg19 0.02 -0.254343 AGGxGGG COVERED NOVEL MROH2A-001 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000130646.6 0 2.707861 KEEP 0 0 0 9 271 TT 0.99254 0.663536 0 + 3 60 104 0 0 7.643947 26 60 774 59 ENST00000389758.3 0.103448 0.668523 HJURP 55355 __UNKNOWN__ __UNKNOWN__ 2 234754506 234754506 __UNKNOWN__ Intron SNP G G A rs2302155 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:234754506G>A ENST00000411486.2 - 6 468 HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein NA NA cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254) chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) AAGAGCTTCTGAGTATAGCTG 0.388 NA NA G||| 1738 0.347045 0.1059 0.5086 5008 , , NA 16791 0.3938 NA 0.5159 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 G 730,3676 293.3+/-282.5 65,600,1538 52 55 54 -0.3 0 2 dbSNP_100 54 4392,4208 579.5+/-390.9 1122,2148,1030 no intron HJURP NM_018410.3 1187,2748,2568 AA,AG,GG 48.9302,16.5683,39.3818 234754506 5122,7884 2203 4300 6503 SO:0001627 intron_variant CCDS33406.1, CCDS63166.1, CCDS63167.1 2q37.1 2007-12-06 ENSG00000123485 ENSG00000123485 55355 25444 protein-coding gene gene with protein product 612667 NA 17823411 Standard NM_018410 NM_001282962 NA Approved DKFZp762E1312, URLC9, hFLEG1, FAKTS uc002vvg.3 Q8NCD3 OTTHUMG00000059125 ENST00000411486.2:c.403-40C>T chr2.hg19:g.234754506G>A NA A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8 hg19 CCDS33406.1 0.02 1.35074 TCTxAGT COVERED NOVEL HJURP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000130996.6 2 13.542933 KEEP 0 0 0 45 1572 GG 1 0.997898 0 - 5 60 150 0 0 9.507865 67 60 2251 170 ENST00000411486.2 0.069444 0.997898 HJURP 55355 __UNKNOWN__ __UNKNOWN__ 2 234761225 234761225 __UNKNOWN__ Missense_Mutation SNP C C T rs2286430 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:234761225C>T ENST00000411486.2 - 3 291 c.226G>A c.(226-228)Gaa>Aaa p.E76K HJURP_ENST00000441687.1_Missense_Mutation_p.E76K|HJURP_ENST00000432087.1_Missense_Mutation_p.E76K NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 76 NA E -> K (in dbSNP:rs2286430). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17823411, ECO:0000269|Ref.2}. cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254) chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ATCTCTCCTTCGTTTCTTTCC 0.383 NA NA C||| 1733 0.346046 0.1029 0.5086 5008 , , NA 19534 0.3938 NA 0.5159 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 C LYS/GLU 717,3689 295.3+/-283.6 64,589,1550 158 128 138 226 -5.3 0 2 dbSNP_100 138 4395,4205 580.7+/-391.1 1123,2149,1028 yes missense HJURP NM_018410.3 56 1187,2738,2578 TT,TC,CC 48.8953,16.2733,39.3049 benign 76/749 234761225 5112,7894 2203 4300 6503 SO:0001583 missense CCDS33406.1, CCDS63166.1, CCDS63167.1 2q37.1 2007-12-06 ENSG00000123485 ENSG00000123485 55355 25444 protein-coding gene gene with protein product 612667 NA 17823411 Standard NM_018410 NM_001282962 NA Approved DKFZp762E1312, URLC9, hFLEG1, FAKTS uc002vvg.3 Q8NCD3 OTTHUMG00000059125 ENST00000411486.2:c.226G>A chr2.hg19:g.234761225C>T ENSP00000414109:p.Glu76Lys NA A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8 hg19 CCDS33406.1 0.02 0.986567 CTTxGTT COVERED 871|871 0.39880952380952384|0.39880952380952384 52|52 0.10569105691056911|0.10569105691056911 177|177 0.4889502762430939|0.4889502762430939 235|235 0.41083916083916083|0.41083916083916083 407|407 0.5369393139841688|0.5369393139841688 C|C 1.323|1.323 -0.598848|-0.598848 0.03744|0.03744 0.162733|0.162733 0.511047|0.511047 ENSG00000123485|ENSG00000123485 ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924|ENST00000454020 T;T;T;T|T 0.48201|0.36157 0.82;0.82;0.82;0.82|1.27 3.55|3.55 -5.31|-5.31 0.02730|0.02730 Centromere protein Scm3, N-terminal (1);|. 1.405580|. 0.04824|. N|. 0.437524|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.08118|0.08118 0|0 0.80722|0.80722 P|P 0.0|0.0 B;B;B|. 0.17268|. 0.017;0.006;0.021|. B;B;B|. 0.12156|. 0.003;0.002;0.007|. T|T 0.45629|0.45629 -0.9248|-0.9248 9|6 0.05620|0.87932 T|D 0.96|0 -0.0036|-0.0036 5.8643|5.8643 0.18767|0.18767 0.0:0.4239:0.3121:0.264|0.0:0.4239:0.3121:0.264 rs2286430;rs11546250;rs61495737;rs2286430|rs2286430;rs11546250;rs61495737;rs2286430 76;76;76|. Q8NCD3-3;Q8NCD3-2;Q8NCD3|. .;.;HJURP_HUMAN|. K|Q 76|67 ENSP00000414109:E76K;ENSP00000407208:E76K;ENSP00000401944:E76K;ENSP00000393253:E76K|ENSP00000414051:R67Q ENSP00000414109:E76K|ENSP00000414051:R67Q E|R -|- 1|2 0|0 HJURP|HJURP 234425964|234425964 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.461000|0.461000 0.32589|0.32589 -3.158000|-3.158000 0.00579|0.00579 -1.191000|-1.191000 0.02695|0.02695 -0.302000|-0.302000 0.09304|0.09304 GAA|CGA NOVEL HJURP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000130996.6 4 19.25911 KEEP 0 0 0 64 2088 CC 1 0.999881 0 - 5 60 142 0 0 8.1674 87 60 2816 220 ENST00000411486.2 0.054348 0.999881 ARL4C 10123 __UNKNOWN__ __UNKNOWN__ 2 235404587 235404587 __UNKNOWN__ 3'UTR SNP A A T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:235404587A>T ENST00000390645.2 - 0 1110 ARL4C_ENST00000339728.3_Intron NM_005737.3 NP_005728.2 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C NA NA endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(1)|ovary(1)|skin(1)|urinary_tract(1) 4 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) catccatccaaccatccatcc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(157;1837 2534 13028 22831) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB016811 CCDS2512.1, CCDS63169.1 2q37.2 2014-05-09 2005-11-03 2005-11-03 ENSG00000188042 ENSG00000188042 10123 ADP-ribosylation factors-like, ADP-ribosylation factors 698 protein-coding gene gene with protein product 604787 ADP-ribosylation factor-like 7 ARL7 NA Standard NM_005737 NA Approved LAK uc002vvn.3 P56559 OTTHUMG00000133291 ENST00000390645.2:c.*65T>A chr2.hg19:g.235404587A>T NA Q4A519|Q53R10|Q9BVN1|Q9UQ34 hg19 CCDS2512.1 0.02 2.71932 CCAxCCA COVERED NOVEL ARL4C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257073.1 11 21.726518 KEEP 0 2 65 95 2838 AA 1 1 0 - 8 60 247 1 0 15.240178 131 60 3901 321 ENST00000390645.2 0.057554 1 AGAP1 116987 __UNKNOWN__ __UNKNOWN__ 2 237033391 237033391 __UNKNOWN__ 3'UTR SNP C C T rs370383326 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:237033391C>T ENST00000336665.5 + 0 3620 AGAP1_ENST00000304032.8_3'UTR|AGAP1_ENST00000409538.1_3'UTR NM_014914.4 NP_055729.2 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 NA NA protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TAGTCATCGCCGAGAAGAAAG 0.473 NA NA C||| 3 0.000599042 0 0 5008 , , NA 18469 0.002 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF413078 CCDS2514.1, CCDS33408.1, CCDS58756.1 2q37 2013-01-10 2008-09-22 2008-09-22 ENSG00000157985 ENSG00000157985 116987 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16922 protein-coding gene gene with protein product 608651 centaurin, gamma 2 CENTG2 NA Standard NM_014914 NM_001037131 NA Approved KIAA1099, GGAP1 uc002vvs.3 Q9UPQ3 OTTHUMG00000133293 ENST00000336665.5:c.*625C>T chr2.hg19:g.237033391C>T NA B2RTX7|Q541S5|Q6P9D7|Q9NV93 hg19 CCDS2514.1 0.02 1.34197 CGCxGAG COVERED NOVEL AGAP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257077.1 2 14.145204 KEEP 0 0 0 47 1585 CC 1 0.9982 0 + 4 60 125 0 0 7.657109 70 60 2330 177 ENST00000336665.5 0.054054 0.9982 OR6B2 389090 __UNKNOWN__ __UNKNOWN__ 2 240969312 240969312 __UNKNOWN__ Missense_Mutation SNP A A G rs10187574 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:240969312A>G ENST00000402971.2 - 1 594 c.535T>C c.(535-537)Tgt>Cgt p.C179R NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 179 NA C -> R (in dbSNP:rs10187574). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) GAAATGTCACAGAAGAAGTGG 0.527 NA NA A||| 1381 0.275759 0.1558 0.2896 5008 , , NA 23316 0.4583 NA 0.3509 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 31 33 32 NA NA 2 NA 240969312 1911 4108 6019 SO:0001583 missense CCDS46559.1 2q37.3 2012-08-09 2004-10-07 2004-10-07 ENSG00000182083 ENSG00000182083 389090 GPCR / Class A : Olfactory receptors 15041 protein-coding gene gene with protein product NA olfactory receptor, family 6, subfamily B, member 2 pseudogene OR6B2P NA Standard NM_001005853 XM_005247004 NA Approved uc010zoc.2 Q6IFH4 OTTHUMG00000152400 ENST00000402971.2:c.535T>C chr2.hg19:g.240969312A>G ENSP00000384563:p.Cys179Arg NA B2RPR3|Q8NGW0 hg19 CCDS46559.1 0.02 -0.377051 CACxGAA COVERED 717 0.3282967032967033 74 0.15040650406504066 111 0.30662983425414364 246 0.43006993006993005 286 0.37730870712401055 A 17.27 3.348132 0.61183 . . ENSG00000182083 ENST00000402971 T 0.62498 0.02 4.36 4.36 0.52297 GPCR, rhodopsin-like superfamily (1); 0.000000 0.51477 D 0.000098 T 0.00012 0.0000 H 0.99074 4.42 0.09310 P 0.9999999587148 D 0.89917 1.0 D 0.97110 1.0 T 0.13045 -1.0524 9 0.87932 D 0 . 11.8219 0.52242 1.0:0.0:0.0:0.0 rs10187574;rs60097153 179 Q6IFH4 OR6B2_HUMAN R 179 ENSP00000384563:C179R ENSP00000384563:C179R C - 1 0 OR6B2 240617985 1.000000 0.71417 1.000000 0.80357 0.752000 0.42762 8.092000 0.89530 1.938000 0.56188 0.482000 0.46254 TGT NOVEL OR6B2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326079.1 9 21.061759 KEEP 114 0 0 70 2143 AA 0.999997 0.909066 0 - 4 51 115 1 0 7.661455 39 60 1169 243 ENST00000402971.2 0.093023 0.909069 GPR35 2859 __UNKNOWN__ __UNKNOWN__ 2 241569329 241569329 __UNKNOWN__ 5'UTR SNP A A G rs2975785 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:241569329A>G ENST00000430267.1 + 0 535 GPR35_ENST00000438013.2_Intron|GPR35_ENST00000403859.1_Intron|GPR35_ENST00000319838.5_Intron|GPR35_ENST00000407714.1_Intron Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 NA NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CCCCCTGCTCACTCTCTGCTG 0.642 NA NA G||| 2525 0.504193 0.1838 0.3746 5008 , , NA 18351 0.7113 NA 0.5328 False NA ,,, NA NA NA 2504 0.7863 NA NA NA NA 0 G ,, 1036,3370 704.5+/-407.1 106,824,1273 35 37 36 ,, -0.4 0 2 dbSNP_101 36 4629,3971 531.7+/-382.0 1239,2151,910 no intron,intron,intron GPR35 NM_001195381.1,NM_001195382.1,NM_005301.3 ,, 1345,2975,2183 GG,GA,AA 46.1744,23.5134,43.5568 ,, ,, 241569329 5665,7341 2203 4300 6503 SO:0001623 5_prime_UTR_variant CCDS2541.1, CCDS56174.1 2q37.3 2012-08-21 ENSG00000178623 ENSG00000178623 2859 GPCR / Class A : Orphans 4492 protein-coding gene gene with protein product 602646 NA 9479505 Standard NM_001195382 NM_005301 NA Approved uc021vze.1 Q9HC97 OTTHUMG00000133356 ENST00000430267.1:c.-41A>G chr2.hg19:g.241569329A>G NA J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4 hg19 CCDS2541.1 0.02 1.841695 CTCxCTC COVERED NOVEL GPR35-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000257189.3 4 9.901425 KEEP 0 0 0 33 971 AA 0.999998 0.967423 0 + 4 60 132 0 0 9.022437 47 60 1437 107 ENST00000430267.1 0.078431 0.967425 STK25 10494 __UNKNOWN__ __UNKNOWN__ 2 242432142 242432142 __UNKNOWN__ 3'UTR SNP T T C rs4075818 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr2:242432142T>C ENST00000316586.4 - 0 4565 FARP2_ENST00000264042.3_Intron NM_001271977.1|NM_001271978.1|NM_001282308.1 NP_001258906.1|NP_001258907.1|NP_001269237.1 O00506 STK25_HUMAN serine/threonine kinase 25 NA NA establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CTTTACTTGGTGCCTGGAATG 0.443 NA NA T||| 464 0.0926518 0.0121 0.1427 5008 , , NA 21365 0.1141 NA 0.1451 False NA ,,, NA NA NA 2504 0.09 NA NA NA NSCLC(99;1100 1566 7679 28647 48345) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D63780 CCDS2549.1, CCDS63199.1, CCDS63200.1 2q37.3 2010-06-25 2010-06-25 ENSG00000115694 ENSG00000115694 10494 11404 protein-coding gene gene with protein product 602255 serine/threonine kinase 25 (Ste20, yeast homolog) NA 8887545, 9160885, 15037601 Standard NM_006374 NM_001271977 NA Approved SOK1, YSK1 uc002wbp.4 O00506 OTTHUMG00000133408 ENST00000316586.4:c.*2935A>G chr2.hg19:g.242432142T>C NA A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1 hg19 CCDS2549.1 0.02 -0.333253 TGGxGCC COVERED NOVEL STK25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257265.4 1 7.219068 KEEP 0 0 0 24 718 TT 0.999909 0.851907 0 - 5 60 168 0 0 12.762102 33 60 960 84 ENST00000316586.4 0.131579 0.851984 GRM7 2917 __UNKNOWN__ __UNKNOWN__ 3 7678090 7678090 __UNKNOWN__ Intron SNP G G A rs7612048 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:7678090G>A ENST00000357716.4 + 9 2725 GRM7_ENST00000403881.1_Intron|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000486284.1_Intron|GRM7_ENST00000402647.2_Intron NM_000844.3 NP_000835.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 NA NA adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226) asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235) adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 caCTGTCATTGTTTGAAAAAT 0.408 NA NA G||| 3722 0.743211 0.7133 0.7291 5008 , , NA 17183 0.7798 NA 0.674 False NA ,,, NA NA NA 2504 0.8272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U92458 CCDS43042.1 3p26-p25 2014-06-12 ENSG00000196277 ENSG00000196277 2917 GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors 4599 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 87 604101 NA 8288585, 8840028 Standard NM_000844 NM_000844 NA Approved GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87 uc003bql.2 Q14831 OTTHUMG00000125549 ENST00000357716.4:c.2452-43646G>A chr3.hg19:g.7678090G>A NA Q8NFS2|Q8NFS3|Q8NFS4 hg19 CCDS43042.1 0.02 -0.412297 ATTxTTT COVERED NOVEL GRM7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000246895.3 2 5.416404 KEEP 0 0 0 18 603 GG 0.999859 0.941609 0 + 4 60 114 0 0 7.452885 41 60 1413 95 ENST00000357716.4 0.088889 0.941741 THUMPD3 25917 __UNKNOWN__ __UNKNOWN__ 3 9406661 9406661 __UNKNOWN__ Intron SNP G G A rs2728949 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:9406661G>A ENST00000345094.3 + 2 281 THUMPD3_ENST00000515662.2_Intron|THUMPD3_ENST00000452837.2_Intron|SETD5-AS1_ENST00000468186.1_RNA NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 NA NA cytoplasm (GO:0005737)|nucleolus (GO:0005730) methyltransferase activity (GO:0008168)|RNA binding (GO:0003723) NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) TGAAATATGAGATGATAATAT 0.363 NA NA G||| 3083 0.615615 0.5431 0.5922 5008 , , NA 20739 0.5675 NA 0.6034 False NA ,,, NA NA NA 2504 0.7924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL117483 CCDS2573.1 3p25.3 2004-06-04 ENSG00000134077 ENSG00000134077 25917 24493 protein-coding gene gene with protein product NA NA 12477932 Standard NM_015453 NM_015453 NA Approved DKFZP434F091 uc003brn.4 Q9BV44 OTTHUMG00000097031 ENST00000345094.3:c.-53-39G>A chr3.hg19:g.9406661G>A NA Q9H8V6|Q9NVC1|Q9UFS3 hg19 CCDS2573.1 0.02 1.671978 TGAxATG COVERED NOVEL THUMPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214127.1 0 5.116289 KEEP 0 0 0 17 590 GG 0.999366 0.985529 0 + 4 60 128 0 0 8.360821 55 60 1938 97 ENST00000345094.3 0.067797 0.986153 SETD5 55209 __UNKNOWN__ __UNKNOWN__ 3 9490346 9490346 __UNKNOWN__ Intron SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:9490346T>G ENST00000406341.1 + 15 2536 SETD5_ENST00000402466.1_Intron|SETD5_ENST00000488236.1_Intron|SETD5_ENST00000302463.6_Intron|SETD5_ENST00000407969.1_Intron|SETD5_ENST00000402198.1_Intron Q9C0A6 SETD5_HUMAN SET domain containing 5 NA NA NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) tgtgttgtgtttatgtgtgtg 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 28 27 27 NA NA 3 NA 9490346 1911 4135 6046 SO:0001627 intron_variant BC020956 CCDS46741.1, CCDS74892.1 3p25.3 2011-12-13 ENSG00000168137 ENSG00000168137 55209 25566 protein-coding gene gene with protein product 615743 NA 11214970 Standard XM_371614 XM_005265299 NA Approved FLJ10707 uc003brt.3 Q9C0A6 OTTHUMG00000150491 ENST00000406341.1:c.2346+32T>G chr3.hg19:g.9490346T>G NA Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9 hg19 CCDS46741.1 0.02 3.891304 TGTxTAT COVERED NOVEL SETD5-001 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318425.1 16 16.848839 KEEP 0 0 0 56 1720 TT 1 0.999973 0 + 8 70 268 2 0 19.02901 79 60 2468 223 ENST00000406341.1 0.091954 0.999973 TADA3 10474 __UNKNOWN__ __UNKNOWN__ 3 9825105 9825105 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:9825105C>G ENST00000301964.2 - 8 1665 TADA3_ENST00000343450.2_3'UTR|TADA3_ENST00000440161.1_Intron NM_006354.2 NP_006345.1 O75528 TADA3_HUMAN transcriptional adaptor 3 NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276) ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 ccaggttcaactgattctcct 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF069733 CCDS2583.1, CCDS2584.1 3p25.3 2010-08-13 2009-10-02 2009-10-02 ENSG00000171148 ENSG00000171148 10474 19422 protein-coding gene gene with protein product 602945 transcriptional adaptor 3 (NGG1 homolog, yeast)-like TADA3L NA 9674425, 11707411 Standard NM_006354 NA Approved FLJ20221, FLJ21329, ADA3, hADA3, NGG1 uc010hcn.2 O75528 OTTHUMG00000128440 ENST00000301964.2:c.1106+606G>C chr3.hg19:g.9825105C>G NA Q6FI83|Q9UFS2 hg19 CCDS2583.1 0.02 1.672646 CAAxTGA COVERED NOVEL TADA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250236.1 24 4.921425 KEEP 0 3 102 52 1768 CC 1 0.999895 0 - 4 60 138 0 0 8.709823 81 60 2812 194 ENST00000301964.2 0.047059 0.999895 EMC3 55831 __UNKNOWN__ __UNKNOWN__ 3 10015264 10015264 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:10015264T>C ENST00000245046.2 - 5 953 EMC3_ENST00000429759.1_3'UTR|EMC3_ENST00000497557.1_Intron NM_018447.2 NP_060917.1 Q9P0I2 EMC3_HUMAN ER membrane protein complex subunit 3 NA NA ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021) NA ccgccttggcttcccaaagtg 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 49 48 48 NA NA 3 NA 10015264 2203 4300 6503 SO:0001627 intron_variant AF157321 CCDS2594.1 3p25.3 2012-05-23 2012-05-23 2012-05-23 ENSG00000125037 ENSG00000125037 55831 23999 protein-coding gene gene with protein product NA transmembrane protein 111 TMEM111 NA 19797678, 22119785 Standard NM_018447 NM_018447 NA Approved uc003bun.3 Q9P0I2 OTTHUMG00000128652 ENST00000245046.2:c.494+47A>G chr3.hg19:g.10015264T>C NA B2R4Z9|Q53GH8|Q6ZMC2 hg19 CCDS2594.1 0.02 4.000651 GGCxTCC COVERED NOVEL EMC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250532.1 28 6.224286 KEEP 0 6 210 94 2946 TT 1 1 0 - 5 60 180 0 0 11.255907 121 60 3735 329 ENST00000245046.2 0.039683 1 FANCD2 2177 __UNKNOWN__ __UNKNOWN__ 3 10106532 10106532 __UNKNOWN__ Missense_Mutation SNP C C T rs3864017 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:10106532C>T ENST00000419585.1 + 23 2302 c.2141C>T c.(2140-2142)cCg>cTg p.P714L FANCD2_ENST00000383806.1_Missense_Mutation_p.P714L|FANCD2_ENST00000383807.1_Missense_Mutation_p.P714L|FANCD2_ENST00000287647.3_Missense_Mutation_p.P714L Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 714 NA P -> L (common polymorphism; dbSNP:rs3864017). {ECO:0000269|PubMed:11239453, ECO:0000269|PubMed:20068231, ECO:0000269|Ref.2}. DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129) condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA polymerase binding (GO:0070182) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GATGGGGGTCCGGTGACCTCA 0.463 NA NA D, Mis, N, F AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia D2 3 3p26 2177 Fanconi anemia, complementation group D2 L 0 97 108 104 NA NA 3 NA 10106532 2203 4300 6503 SO:0001583 missense Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) AF340183 CCDS2595.1, CCDS33696.1 3p25.3 2014-09-17 2001-10-05 ENSG00000144554 ENSG00000144554 2177 Fanconi anemia, complementation groups 3585 protein-coding gene gene with protein product 613984 FACD, FANCD NA 7581463, 11239453, 18475298 Standard XM_005264946 NA Approved FAD, FA-D2 uc003buw.3 Q9BXW9 OTTHUMG00000128670 ENST00000419585.1:c.2141C>T chr3.hg19:g.10106532C>T ENSP00000398754:p.Pro714Leu NA Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9 hg19 CCDS33696.1 0.02 1.537777 GTCxGGT COVERED 322 0.14743589743589744 131 0.266260162601626 55 0.15193370165745856 38 0.06643356643356643 98 0.12928759894459102 C 2.788 -0.252037 0.05829 . . ENSG00000144554 ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585 T;T;T;T 0.46063 0.88;0.88;0.88;0.88 5.65 -3.09 0.05331 . 0.818656 0.12158 N 0.494282 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B;B 0.06786 0.001;0.001 B;B 0.04013 0.001;0.0 T 0.36696 -0.9737 9 0.31617 T 0.26 . 2.4445 0.04502 0.2514:0.2304:0.4085:0.1097 rs3864017;rs6763135 714;714 Q9BXW9-2;Q9BXW9 .;FACD2_HUMAN L 714 ENSP00000287647:P714L;ENSP00000373318:P714L;ENSP00000373317:P714L;ENSP00000398754:P714L ENSP00000287647:P714L P + 2 0 FANCD2 10081532 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.181000 0.09740 -0.507000 0.06549 -1.383000 0.01170 CCG NOVEL FANCD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339873.1 1 5.050001 KEEP 5 1 29 27 909 CC 0.999988 0.992082 0 + 4 27 128 0 0 8.243808 59 60 1960 134 ENST00000419585.1 0.063492 0.992094 GRIP2 80852 __UNKNOWN__ __UNKNOWN__ 3 14549105 14549105 __UNKNOWN__ RNA SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:14549105C>A ENST00000273083.3 - 0 2246 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 NA NA synaptic transmission (GO:0007268) cytosol (GO:0005829)|plasma membrane (GO:0005886) endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GTGACGGTCTCTCCAGCCACC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 69 74 72 NA NA 3 NA 14549105 2046 4193 6239 AB051506 3p24-p23 2012-02-08 ENSG00000144596 ENSG00000144596 80852 23841 protein-coding gene gene with protein product NA NA Standard NM_001080423 NM_001080423 NA Approved KIAA1719 uc021wtn.1 Q9C0E4 OTTHUMG00000155544 ENST00000273083.3: chr3.hg19:g.14549105C>A NA Q8TEH9|Q9H7H3 hg19 0.02 5.591126 TCTxTCC COVERED NOVEL GRIP2-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000340582.2 4 43.94222 KEEP 0 0 0 146 5162 CC 1 1 0 - 9 60 267 0 0 14.249381 238 60 8256 562 ENST00000273083.3 0.036437 1 METTL6 131965 __UNKNOWN__ __UNKNOWN__ 3 15452662 15452662 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:15452662G>A ENST00000450816.2 - 0 1083 METTL6_ENST00000443029.1_Intron|METTL6_ENST00000383790.3_3'UTR Q8TCB7 METL6_HUMAN methyltransferase like 6 NA NA methyltransferase activity (GO:0008168) endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 tcggcctcccgaagtgctggg 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057791 CCDS43056.1 3p25.1 2005-11-02 ENSG00000206562 ENSG00000206562 131965 28343 protein-coding gene gene with protein product NA NA 12477932 Standard NM_152396 NM_152396 NA Approved MGC24132 uc003bzs.1 Q8TCB7 OTTHUMG00000156431 ENST00000450816.2:c.*101C>T chr3.hg19:g.15452662G>A NA Q96LU4 hg19 0.02 1.476273 CCCxAAG COVERED NOVEL METTL6-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000346368.1 18 2.94416 KEEP 0 1 32 21 706 GG 0.999892 0.996616 0 - 9 60 266 0 0 19.748987 53 60 1771 134 ENST00000450816.2 0.145161 0.996724 TBC1D5 9779 __UNKNOWN__ __UNKNOWN__ 3 17209195 17209195 __UNKNOWN__ Intron SNP G G A rs2305291 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:17209195G>A ENST00000253692.7 - 20 3597 TBC1D5_ENST00000446818.2_Intron|TBC1D5_ENST00000429383.4_Intron|TBC1D5_ENST00000414318.2_Intron NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 NA NA retromer complex (GO:0030904) Rab GTPase activator activity (GO:0005097) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GGCCCTCCCCGCGGCAGGCGG 0.522 NA NA g||| 1383 0.276158 0.0998 0.353 5008 , , NA 17733 0.5407 NA 0.1461 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 G ,, 432,3974 205.8+/-227.6 20,392,1791 40 43 42 ,, 1.6 0 3 dbSNP_100 42 1392,7208 269.1+/-288.2 118,1156,3026 no intron,intron,intron TBC1D5 NM_001134380.1,NM_001134381.1,NM_014744.2 ,, 138,1548,4817 AA,AG,GG 16.186,9.8048,14.0243 ,, ,, 17209195 1824,11182 2203 4300 6503 SO:0001627 intron_variant D86965 CCDS33714.1, CCDS46770.1 3p24.3 2013-07-09 ENSG00000131374 ENSG00000131374 9779 19166 protein-coding gene gene with protein product 615740 NA 19531583 Standard NM_014744 NM_014744 NA Approved KIAA0210 uc003cbe.3 Q92609 OTTHUMG00000155488 ENST00000253692.7:c.1932+45C>T chr3.hg19:g.17209195G>A NA A6NP25|C9JP52 hg19 CCDS33714.1 0.02 -0.403514 CCCxCGG COVERED NOVEL TBC1D5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340301.3 1 7.223026 KEEP 0 0 0 24 821 GG 0.999909 0.934407 0 - 4 60 112 0 0 7.215567 42 60 1446 96 ENST00000253692.7 0.086957 0.934492 ZNF385D 79750 __UNKNOWN__ __UNKNOWN__ 3 21460201 21460201 __UNKNOWN__ 3'UTR SNP A A G rs9700 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:21460201A>G ENST00000281523.2 - 0 4211 NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D NA NA nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TGAAAATGGGAAAGAACAGCA 0.403 NA NA G||| 2138 0.426917 0.3048 0.3631 5008 , , NA 18517 0.5347 NA 0.5089 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007212 CCDS2636.1 3p24.3 2012-10-05 2007-12-06 2007-12-06 ENSG00000151789 ENSG00000151789 79750 26191 protein-coding gene gene with protein product NA zinc finger protein 659 ZNF659 NA 12477932 Standard NM_024697 NM_024697 NA Approved FLJ22419 uc003cce.3 Q9H6B1 OTTHUMG00000130484 ENST00000281523.2:c.*2505T>C chr3.hg19:g.21460201A>G NA hg19 CCDS2636.1 0.02 1.610719 GGGxAAG COVERED NOVEL ZNF385D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252884.1 3 10.529683 KEEP 0 0 0 35 1047 AA 0.999999 0.994421 0 - 4 60 131 0 0 8.459833 62 60 1887 136 ENST00000281523.2 0.060606 0.994422 ZNF385D 79750 __UNKNOWN__ __UNKNOWN__ 3 21461442 21461442 __UNKNOWN__ 3'UTR SNP A A G rs9824797 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:21461442A>G ENST00000281523.2 - 0 2970 NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D NA NA nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AAAGGCTCTCAGTATTTCACA 0.313 NA NA A||| 1828 0.365016 0.1921 0.3444 5008 , , NA 11753 0.4861 NA 0.499 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007212 CCDS2636.1 3p24.3 2012-10-05 2007-12-06 2007-12-06 ENSG00000151789 ENSG00000151789 79750 26191 protein-coding gene gene with protein product NA zinc finger protein 659 ZNF659 NA 12477932 Standard NM_024697 NM_024697 NA Approved FLJ22419 uc003cce.3 Q9H6B1 OTTHUMG00000130484 ENST00000281523.2:c.*1264T>C chr3.hg19:g.21461442A>G NA hg19 CCDS2636.1 0.02 2.11433 CTCxGTA COVERED NOVEL ZNF385D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252884.1 2 6.620033 KEEP 0 0 0 22 689 AA 0.999879 0.973847 0 - 5 60 166 0 0 11.754206 49 60 1517 110 ENST00000281523.2 0.092593 0.973965 CMC1 152100 __UNKNOWN__ __UNKNOWN__ 3 28364928 28364928 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:28364928T>C ENST00000466830.1 + 0 4328 AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000479665.1_3'UTR NM_182523.1 NP_872329.1 Q7Z7K0 COXM1_HUMAN C-x(9)-C motif containing 1 NA NA mitochondrion (GO:0005739) metal ion binding (GO:0046872) central_nervous_system(1)|kidney(1)|large_intestine(3) 5 GTTTCAAGTCTTAGAATTCAA 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC052644 CCDS33722.1 3p24.1 2013-10-18 2013-10-18 2008-06-20 ENSG00000187118 ENSG00000187118 152100 28783 protein-coding gene gene with protein product 615166 chromosome 3 open reading frame 68, COX assembly mitochondrial protein 1 homolog (S. cerevisiae) C3orf68 NA 18443040 Standard NM_182523 NM_182523 NA Approved MGC61571 uc003cea.3 Q7Z7K0 OTTHUMG00000155660 ENST00000466830.1:c.*3808T>C chr3.hg19:g.28364928T>C NA Q68DJ7 hg19 CCDS33722.1 0.02 1.935666 GTCxTAG COVERED NOVEL CMC1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341087.1 5 7.521739 KEEP 0 0 0 25 779 TT 0.999931 0.992025 0 + 4 60 141 0 0 9.541384 59 60 1832 128 ENST00000466830.1 0.063492 0.992094 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31703464 31703464 __UNKNOWN__ 3'UTR SNP T T C rs11058 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:31703464T>C ENST00000396556.2 - 0 2517 OSBPL10_ENST00000438237.2_3'UTR NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 NA NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) TGGATGCTAATACAAGGTCTC 0.408 NA NA T||| 1092 0.218051 0.1664 0.281 5008 , , NA 19098 0.2946 NA 0.2068 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.*100A>G chr3.hg19:g.31703464T>C NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 1.675184 TAAxACA COVERED NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 5 14.135383 KEEP 0 0 0 47 1348 TT 1 0.996724 0 - 4 60 138 0 0 9.053531 66 60 1916 154 ENST00000396556.2 0.057143 0.996724 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31712393 31712393 __UNKNOWN__ Silent SNP C C T rs3749405 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:31712393C>T ENST00000396556.2 - 9 1931 c.1809G>A c.(1807-1809)ccG>ccA p.P603P OSBPL10_ENST00000438237.2_Silent_p.P539P NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 603 NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GCTCCACCCACGGGATGGTGA 0.567 NA NA T||| 2832 0.565495 0.854 0.4107 5008 , , NA 20776 0.6756 NA 0.3728 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 T , 3339,1067 389.1+/-327.2 1266,807,130 134 118 123 1617,1809 -10.9 0 3 dbSNP_107 123 3086,5514 659.5+/-401.7 533,2020,1747 no coding-synonymous,coding-synonymous OSBPL10 NM_001174060.1,NM_017784.4 , 1799,2827,1877 TT,TC,CC 35.8837,24.217,49.4003 , 539/701,603/765 31712393 6425,6581 2203 4300 6503 SO:0001819 synonymous_variant AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.1809G>A chr3.hg19:g.31712393C>T NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 2.760458 CCAxGGG COVERED 1223 0.559981684981685 412 0.8373983739837398 150 0.4143646408839779 379 0.6625874125874126 282 0.3720316622691293 T 0.057 -1.232567 0.01505 0.75783 0.358837 ENSG00000144645 ENST00000429492 . . . 5.47 -10.9 0.00192 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999976 . . . . . . T 0.24440 -1.0160 3 . . . -18.8515 1.9525 0.03370 0.1631:0.2346:0.2062:0.396 rs3749405;rs17383168;rs17849743;rs3749405 . . . H 372 . . R - 2 0 OSBPL10 31687397 0.000000 0.05858 0.005000 0.12908 0.008000 0.06430 -6.416000 0.00067 -6.038000 0.00007 -2.931000 0.00088 CGT NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 3 29.190984 KEEP 0 0 0 97 3246 CC 1 1 0 - 7 60 208 0 0 12.392319 120 60 4016 332 ENST00000396556.2 0.055118 1 ZNF621 285268 __UNKNOWN__ __UNKNOWN__ 3 40574077 40574077 __UNKNOWN__ Silent SNP C C T rs566518778 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:40574077C>T ENST00000339296.5 + 5 1268 c.816C>T c.(814-816)ttC>ttT p.F272F ZNF621_ENST00000431278.1_Silent_p.F161F|ZNF621_ENST00000403205.2_Silent_p.F272F|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000490457.1_Intron NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 272 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.F272F(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) GGAAAGCTTTCGGTTGTAGGT 0.438 NA NA C||| 1 0.000199681 0 0 5008 , , NA 22534 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 1 Substitution - coding silent(1) large_intestine(1) 68 77 74 NA NA 3 NA 40574077 2203 4300 6503 SO:0001819 synonymous_variant AK127181 CCDS2693.1, CCDS74920.1 3p21.33 2013-01-08 ENSG00000172888 ENSG00000172888 285268 Zinc fingers, C2H2-type, - 24787 protein-coding gene gene with protein product NA NA Standard NM_198484 XM_005265079 NA Approved FLJ45246 uc003ckm.2 Q6ZSS3 OTTHUMG00000131389 ENST00000339296.5:c.816C>T chr3.hg19:g.40574077C>T NA Q14DC7|Q8TE91 hg19 CCDS2693.1 0.02 1.236713 TTTxGGT COVERED NOVEL ZNF621-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254178.2 4 17.154472 KEEP 0 0 0 57 1907 CC 1 0.999678 0 + 5 60 147 0 0 8.839492 80 60 2635 204 ENST00000339296.5 0.058824 0.999678 FAM198A 729085 __UNKNOWN__ __UNKNOWN__ 3 43098511 43098511 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:43098511A>G ENST00000430121.2 + 0 2456 NM_001129908.2 NP_001123380.2 Q9UFP1 F198A_HUMAN family with sequence similarity 198, member A NA NA extracellular region (GO:0005576) endometrium(1) 1 AGCGGTGTGTATGTGTGTGTG 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL117530 CCDS46808.1 3p22.1 2012-11-29 2009-10-19 2009-10-19 ENSG00000144649 ENSG00000144649 729085 24485 protein-coding gene gene with protein product NA chromosome 3 open reading frame 41 C3orf41 NA Standard NM_001129908 NM_001129908 NA Approved DKFZP434B172 uc003cmp.4 Q9UFP1 OTTHUMG00000156449 ENST00000430121.2:c.*633A>G chr3.hg19:g.43098511A>G NA B3KR48 hg19 CCDS46808.1 0.02 1.711716 TGTxTGT COVERED NOVEL FAM198A-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344240.3 5 9.624202 KEEP 0 0 0 32 918 AA 0.999997 0.99996 0 + 10 60 331 2 1 23.95355 86 60 2464 180 ENST00000430121.2 0.104167 0.999962 ZNF445 353274 __UNKNOWN__ __UNKNOWN__ 3 44482685 44482685 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:44482685A>G ENST00000396077.2 - 0 8825 ZNF445_ENST00000425708.2_3'UTR NM_181489.5 NP_852466.1 P59923 ZN445_HUMAN zinc finger protein 445 NA NA transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) gattacaggcatgagccatcg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY262260 CCDS2713.1 3p21.32 2013-01-09 2003-10-07 ENSG00000185219 ENSG00000185219 353274 Zinc fingers, C2H2-type, -, -, - 21018 protein-coding gene gene with protein product NA zinc finger protein 168 ZNF168 NA 7814019 Standard NM_181489 NM_181489 NA Approved ZKSCAN15, ZSCAN47 uc003cnf.2 P59923 OTTHUMG00000133042 ENST00000396077.2:c.*5382T>C chr3.hg19:g.44482685A>G NA Q3MJD1 hg19 CCDS2713.1 0.02 -0.262387 GGCxTGA COVERED NOVEL ZNF445-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256647.2 11 4.812895 KEEP 0 0 0 16 464 AA 0.997832 0.71576 0 - 4 60 107 0 0 7.763855 23 60 682 64 ENST00000396077.2 0.148148 0.717315 KIAA1143 57456 __UNKNOWN__ __UNKNOWN__ 3 44790873 44790873 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:44790873T>C ENST00000296121.4 - 0 4484 KIAA1143_ENST00000484437.1_Intron NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 NA NA NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) agagcgagactctgtctcaaa 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032969 CCDS2721.1 3p21.31 2005-08-15 ENSG00000163807 ENSG00000163807 57456 29198 protein-coding gene gene with protein product NA NA 10574461 Standard NM_020696 NM_020696 NA Approved uc011bac.2 Q96AT1 OTTHUMG00000133088 ENST00000296121.4:c.*3960A>G chr3.hg19:g.44790873T>C NA A8K0I4|Q96HJ8|Q9ULS7 hg19 CCDS2721.1 0.02 5.879995 GACxCTG COVERED NOVEL KIAA1143-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256746.1 34 15.311799 KEEP 2 2 69 75 2308 TT 1 1 0 - 6 60 206 2 0 12.658291 137 60 4209 332 ENST00000296121.4 0.041958 1 KIAA1143 57456 __UNKNOWN__ __UNKNOWN__ 3 44791410 44791410 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:44791410C>T ENST00000296121.4 - 0 3947 KIAA1143_ENST00000484437.1_Intron NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 NA NA NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) gcctcctgagcagctgggact 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032969 CCDS2721.1 3p21.31 2005-08-15 ENSG00000163807 ENSG00000163807 57456 29198 protein-coding gene gene with protein product NA NA 10574461 Standard NM_020696 NM_020696 NA Approved uc011bac.2 Q96AT1 OTTHUMG00000133088 ENST00000296121.4:c.*3423G>A chr3.hg19:g.44791410C>T NA A8K0I4|Q96HJ8|Q9ULS7 hg19 CCDS2721.1 0.02 -0.350881 GAGxAGC COVERED NOVEL KIAA1143-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256746.1 4 5.250674 KEEP 1 1 21 25 884 CC 0.999957 0.87767 0 - 4 60 105 0 0 6.864612 34 60 1199 81 ENST00000296121.4 0.105263 0.877708 LIMD1 8994 __UNKNOWN__ __UNKNOWN__ 3 45723434 45723434 __UNKNOWN__ 3'UTR SNP T T C rs17262464 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:45723434T>C ENST00000273317.4 + 0 6935 LIMD1-AS1_ENST00000429798.1_RNA|LIMD1-AS1_ENST00000427644.1_RNA NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 NA NA cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442) transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) GACCAAAGAATCCTCAAGGCG 0.458 NA NA T||| 387 0.0772764 0.0129 0.1182 5008 , , NA 20197 0.0208 NA 0.164 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ132408 CCDS2729.1 3p21.31 2008-02-01 ENSG00000144791 ENSG00000144791 8994 6612 protein-coding gene gene with protein product 604543 NA 10647888 Standard NM_014240 NM_014240 NA Approved uc003coq.3 Q9UGP4 OTTHUMG00000133453 ENST00000273317.4:c.*4883T>C chr3.hg19:g.45723434T>C NA Q17RQ1|Q9BQQ9|Q9NQ47 hg19 CCDS2729.1 0.02 -0.43851 GAAxCCT COVERED NOVEL LIMD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257327.1 3 6.61847 KEEP 0 0 0 22 672 TT 0.999879 0.959743 0 + 3 60 103 0 0 6.860226 45 60 1348 98 ENST00000273317.4 0.0625 0.959859 MST1 4485 __UNKNOWN__ __UNKNOWN__ 3 49723916 49723916 __UNKNOWN__ Splice_Site SNP T T G rs201139286 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:49723916T>G ENST00000449682.2 - 8 1209 c.e8-2 MST1_ENST00000545762.1_Splice_Site|MST1_ENST00000383728.3_Splice_Site NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) NA NA embryo implantation (GO:0007566)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) extracellular vesicular exosome (GO:0070062) serine-type endopeptidase activity (GO:0004252) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCTCGGACCCTTAGATGGACC 0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(110;181 1524 8005 22865 46297) NA 0 27 29 28 NA NA 3 NA 49723916 2202 4296 6498 SO:0001630 splice_region_variant M74178 CCDS33757.2 3p21 2008-09-05 ENSG00000173531 ENSG00000173531 4485 7380 protein-coding gene gene with protein product hepatocyte growth factor-like protein homolog 142408 D3F15S2, HGFL, DNF15S2 NA 2902784, 8393443 Standard NM_020998 NM_020998 NA Approved MSP, NF15S2 uc003cxg.3 P26927 OTTHUMG00000155918 ENST00000449682.2:c.848-2A>C chr3.hg19:g.49723916T>G NA A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4 hg19 CCDS33757.2 0.02 1.891819 CCCxTAG COVERED . . . . . . . . . . T 13.62 2.290595 0.40494 . . ENSG00000173531 ENST00000449682;ENST00000383728 . . . 4.94 3.61 0.41365 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 8.1429 0.31093 0.0:0.1325:0.0:0.8675 . . . . . -1 . . . - . . MST1 49698920 0.505000 0.26131 0.435000 0.26784 0.223000 0.24884 2.574000 0.46016 1.984000 0.57885 0.533000 0.62120 . NOVEL MST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342315.3 2 3.847046 KEEP 1 1 35 25 791 TT 0.999931 0.995618 0 Intron - 4 27 129 0 0 8.207989 64 60 1976 133 ENST00000449682.2 0.058824 0.995687 MST1 4485 __UNKNOWN__ __UNKNOWN__ 3 49726318 49726318 __UNKNOWN__ 5'UTR SNP T T C rs113941099 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:49726318T>C ENST00000449682.2 - 0 168 NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) NA NA embryo implantation (GO:0007566)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) extracellular vesicular exosome (GO:0070062) serine-type endopeptidase activity (GO:0004252) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTGGGGACACTTGAGGTGCCC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(110;181 1524 8005 22865 46297) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M74178 CCDS33757.2 3p21 2008-09-05 ENSG00000173531 ENSG00000173531 4485 7380 protein-coding gene gene with protein product hepatocyte growth factor-like protein homolog 142408 D3F15S2, HGFL, DNF15S2 NA 2902784, 8393443 Standard NM_020998 NM_020998 NA Approved MSP, NF15S2 uc003cxg.3 P26927 OTTHUMG00000155918 ENST00000449682.2:c.-194A>G chr3.hg19:g.49726318T>C NA A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4 hg19 CCDS33757.2 0.02 1.789926 CACxTGA COVERED NOVEL MST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342315.3 2 5.316224 KEEP 1 3 98 52 1580 TT 1 0.999862 0 - 12 57 393 0 0 29.621747 79 60 2370 184 ENST00000449682.2 0.131868 0.999862 CDHR4 389118 __UNKNOWN__ __UNKNOWN__ 3 49835757 49835757 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:49835757T>C ENST00000412678.2 - 4 504 CDHR4_ENST00000343366.4_3'UTR NM_001007540.2 NP_001007541.2 A6H8M9 CDHR4_HUMAN cadherin-related family member 4 NA NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 cggtggctcatgcctgtaatc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46829.1 3p21.31 2011-07-01 2010-01-25 2010-01-25 ENSG00000187492 ENSG00000187492 389118 Cadherins / Cadherin-related 34527 protein-coding gene gene with protein product NA cadherin-like 29 CDH29 NA Standard NM_001007540 NM_001007540 NA Approved VLLR9392 uc010hkz.3 A6H8M9 OTTHUMG00000158198 ENST00000412678.2:c.495+501A>G chr3.hg19:g.49835757T>C NA Q6UXT0 hg19 CCDS46829.1 0.02 5.772085 TCAxGCC COVERED NOVEL CDHR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350387.1 56 9.337729 KEEP 3 6 212 105 3218 TT 1 1 0 - 6 60 208 0 0 12.323145 169 60 5089 433 ENST00000412678.2 0.034286 1 XXcos-LUCA11.5 0 __UNKNOWN__ __UNKNOWN__ 3 50401437 50401437 __UNKNOWN__ Intron SNP T T G rs181866803 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:50401437T>G ENST00000606589.1 + 3 245 CACNA2D2_ENST00000424201.2_3'UTR|CACNA2D2_ENST00000435965.1_3'UTR|CACNA2D2_ENST00000266039.3_3'UTR|CACNA2D2_ENST00000360963.3_3'UTR|CACNA2D2_ENST00000429770.1_3'UTR|CACNA2D2_ENST00000423994.2_3'UTR|CACNA2D2_ENST00000395083.1_3'UTR NA NA NA GTGTGTGTGTTTGTGCGTGTG 0.547 NA NA T||| 1 0.000199681 0 0 5008 , , NA 19202 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000606589.1:c.128-2291T>G chr3.hg19:g.50401437T>G NA hg19 0.02 3.862726 TGTxTGT COVERED NOVEL XXcos-LUCA11.5-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000470670.1 11 17.126052 KEEP 0 0 0 57 1706 TT 1 1 0 + 10 60 349 0 0 24.691234 111 60 3315 237 ENST00000606589.1 0.082645 1 RAD54L2 23132 __UNKNOWN__ __UNKNOWN__ 3 51669678 51669678 __UNKNOWN__ Silent SNP C C T rs145074665 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:51669678C>T ENST00000409535.2 + 9 1337 c.1212C>T c.(1210-1212)taC>taT p.Y404Y RAD54L2_ENST00000296477.3_Silent_p.Y98Y NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 404 Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}. NA nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712) NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TGATGGGGTACGAGATGTACA 0.483 NA NA c||| 1 0.000199681 8e-04 0 5008 , , NA 20566 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 C 6,4400 11.4+/-27.6 0,6,2197 148 130 136 1212 -6.4 0.8 3 dbSNP_134 136 0,8600 0,0,4300 no coding-synonymous RAD54L2 NM_015106.2 0,6,6497 TT,TC,CC 0.0,0.1362,0.0461 404/1468 51669678 6,13000 2203 4300 6503 SO:0001819 synonymous_variant AB018352 CCDS33765.2 3p21.2 2006-01-17 ENSG00000164080 ENSG00000164080 23132 29123 protein-coding gene gene with protein product NA NA 9872452 Standard NM_015106 NM_015106 NA Approved KIAA0809, SRISNF2L uc011bdt.2 Q9Y4B4 OTTHUMG00000152936 ENST00000409535.2:c.1212C>T chr3.hg19:g.51669678C>T NA Q8TB57|Q9BV54 hg19 CCDS33765.2 0.02 1.067647 GTAxGAG COVERED 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 c 8.353 0.831440 0.16820 0.001362 0.0 ENSG00000164080 ENST00000432863 . . . 5.53 -6.39 0.01951 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . -5.3972 18.4731 0.90782 0.0:0.1125:0.0:0.8875 . . . . X 233 . . R + 1 2 RAD54L2 51644718 0.172000 0.23043 0.772000 0.31596 0.909000 0.53808 -0.509000 0.06336 -1.397000 0.02068 -1.684000 0.00734 CGA NOVEL RAD54L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328700.2 6 14.144619 KEEP 0 0 0 47 1570 CC 1 0.999907 0 + 5 60 148 0 0 8.714739 89 60 2891 193 ENST00000409535.2 0.053191 0.999907 STAB1 23166 __UNKNOWN__ __UNKNOWN__ 3 52536221 52536221 __UNKNOWN__ Missense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:52536221G>A ENST00000321725.6 + 5 540 c.464G>A c.(463-465)cGg>cAg p.R155Q NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 155 NA cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898) endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GACCCCAACCGGTTCGGGCCT 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 56 57 57 NA NA 3 NA 52536221 2203 4300 6503 SO:0001583 missense AJ275213 CCDS33768.1 3p21.31 2008-07-18 ENSG00000010327 ENSG00000010327 23166 18628 protein-coding gene gene with protein product MS-1 antigen, fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1, common lymphatic endothelial and vascular endothelial receptor-1 608560 NA 11829752, 12077138 Standard NM_015136 XM_005264973 NA Approved KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1 uc003dej.3 Q9NY15 OTTHUMG00000158574 ENST00000321725.6:c.464G>A chr3.hg19:g.52536221G>A ENSP00000312946:p.Arg155Gln NA A7E297|Q8IUH0|Q8IUH1|Q93072 hg19 CCDS33768.1 0.02 1.264481 ACCxGTT COVERED . . . . . . . . . . G 7.367 0.626084 0.14257 . . ENSG00000010327 ENST00000321725 D 0.85171 -1.95 4.66 1.26 0.21427 . 0.998776 0.08102 N 0.997610 T 0.78780 0.4337 M 0.73598 2.24 0.09310 N 1 B;P 0.44986 0.303;0.847 B;B 0.36534 0.074;0.227 T 0.64179 -0.6468 10 0.13108 T 0.6 . 3.4293 0.07422 0.2178:0.0:0.5347:0.2475 . 155;155 Q9NY15;Q9NY15-2 STAB1_HUMAN;. Q 155 ENSP00000312946:R155Q ENSP00000312946:R155Q R + 2 0 STAB1 52511261 0.000000 0.05858 0.003000 0.11579 0.013000 0.08279 0.070000 0.14573 0.504000 0.28082 -0.254000 0.11334 CGG NOVEL STAB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351380.2 10 10.532668 KEEP 0 0 0 35 1163 GG 0.999999 0.999486 0 + 5 60 144 0 0 8.598165 78 60 2590 165 ENST00000321725.6 0.060241 0.999487 TMEM110 375346 __UNKNOWN__ __UNKNOWN__ 3 52872035 52872035 __UNKNOWN__ 3'UTR SNP A A C rs552978050 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:52872035A>C ENST00000355083.5 - 0 3505 TMEM110-MUSTN1_ENST00000504329.1_Intron NM_198563.2 NP_940965.1 Q86TL2 TM110_HUMAN transmembrane protein 110 NA NA integral component of membrane (GO:0016021) kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) CACACACACAAACACACAAGA 0.567 NA NA A||| 1 0.000199681 0 0.0014 5008 , , NA 19726 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC047015 CCDS2866.1 3p21.1 2010-08-13 ENSG00000213533 ENSG00000213533 375346 30526 protein-coding gene gene with protein product NA NA 12477932 Standard NM_198563 NM_198563 NA Approved MGC52022 Q86TL2 OTTHUMG00000150346 ENST00000355083.5:c.*2475T>G chr3.hg19:g.52872035A>C NA hg19 CCDS2866.1 0.02 1.330098 ACAxACA COVERED NOVEL TMEM110-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352949.2 8 5.08526 KEEP 0 2 72 42 1285 AA 1 0.999956 0 - 5 60 164 0 0 10.357297 87 70 2605 194 ENST00000355083.5 0.054348 0.999956 LRTM1 57408 __UNKNOWN__ __UNKNOWN__ 3 54962013 54962013 __UNKNOWN__ 5'UTR SNP A A C rs56327704 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:54962013A>C ENST00000273286.5 - 0 88 CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 NA NA integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CACGAAGGGCATGGCAGACTC 0.463 NA NA A||| 2473 0.49381 0.1838 0.6499 5008 , , NA 18134 0.75 NA 0.494 False NA ,,, NA NA NA 2504 0.5378 NA NA NA NA 0 A , 324,1060 42,240,410 84 67 72 , -4 0 3 dbSNP_129 72 1365,1817 293,779,519 no intron,utr-5 CACNA2D3,LRTM1 NM_018398.2,NM_020678.2 , 335,1019,929 CC,CA,AA 42.8975,23.4104,36.9908 , , 54962013 1689,2877 692 1591 2283 SO:0001623 5_prime_UTR_variant AF225421 CCDS2876.1 3p14.3 2006-01-02 ENSG00000144771 ENSG00000144771 57408 25023 protein-coding gene gene with protein product NA NA 12477932 Standard NM_020678 NM_020678 NA Approved HT017 uc003dhl.3 Q9HBL6 OTTHUMG00000158578 ENST00000273286.5:c.-75T>G chr3.hg19:g.54962013A>C NA Q8IUU2 hg19 CCDS2876.1 0.02 3.75739 GGCxTGG COVERED NOVEL LRTM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351399.1 6 27.378692 KEEP 0 0 0 91 2755 AA 1 1 0 - 5 60 175 0 0 10.572079 132 60 3943 340 ENST00000273286.5 0.036496 1 RPP14 11102 __UNKNOWN__ __UNKNOWN__ 3 58305033 58305033 __UNKNOWN__ 3'UTR SNP A A C rs14927 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:58305033A>C ENST00000445193.3 + 0 2596 RPP14_ENST00000295959.5_3'UTR NM_001098783.2 NP_001092253.1 O95059 RPP14_HUMAN ribonuclease P/MRP 14kDa subunit NA NA tRNA processing (GO:0008033) nucleus (GO:0005634) ribonuclease P activity (GO:0004526)|RNA binding (GO:0003723) large_intestine(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191) CCTCGGTCTCAGTTATGTAAA 0.463 NA NA A||| 2179 0.435104 0.1392 0.3646 5008 , , NA 18698 0.8065 NA 0.3608 False NA ,,, NA NA NA 2504 0.5787 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF001175 CCDS2888.1 3p21.2 2012-05-21 2007-06-26 ENSG00000163684 ENSG00000163684 11102 30327 protein-coding gene gene with protein product 606112 ribonuclease P 14kDa subunit NA 10024167, 11929972 Standard NM_007042 NM_001098783 NA Approved P14 uc031sah.1 O95059 OTTHUMG00000159152 ENST00000445193.3:c.*1810A>C chr3.hg19:g.58305033A>C NA Q53X97 hg19 CCDS2888.1 0.02 -0.298076 CTCxGTT COVERED NOVEL RPP14-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353527.2 3 7.219822 KEEP 0 0 0 24 725 AA 0.999909 0.780989 0 + 3 60 101 0 0 7.12744 31 60 935 88 ENST00000445193.3 0.088235 0.78106 EBLN2 55096 __UNKNOWN__ __UNKNOWN__ 3 73111368 73111368 __UNKNOWN__ Missense_Mutation SNP T T C rs2231924 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:73111368T>C ENST00000533473.1 + 1 559 c.136T>C c.(136-138)Tcc>Ccc p.S46P PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron NM_018029.3 NP_060499.3 Q6P2I7 EBLN2_HUMAN endogenous Bornavirus-like nucleoprotein 2 46 NA endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 GAACCAATTTTCCACAATGTC 0.418 NA NA C||| 2637 0.526558 0.6188 0.3689 5008 , , NA 17712 0.4514 NA 0.508 False NA ,,, NA NA NA 2504 0.6104 NA NA NA NA 0 C PRO/SER, 2389,1425 746,897,264 38 36 37 136, -0.5 0 3 dbSNP_98 37 4205,4035 1078,2049,993 yes missense,intron EBLN2,PPP4R2 NM_018029.3,NM_174907.2 74, 1824,2946,1257 CC,CT,TT 48.9684,37.3623,45.2962 benign, 46/273, 73111368 6594,5460 1907 4120 6027 SO:0001583 missense CCDS54608.1 3p13 2011-06-03 ENSG00000255423 ENSG00000255423 55096 25493 protein-coding gene gene with protein product endogenous Borna-like N element 2 613250 NA 20054395, 20686665 Standard NM_018029 NM_018029 NA Approved uc003dpj.3 Q6P2I7 OTTHUMG00000165897 ENST00000533473.1:c.136T>C chr3.hg19:g.73111368T>C ENSP00000432104:p.Ser46Pro NA Q8WWH3|Q9NW89 hg19 CCDS54608.1 0.02 -0.394622 TTTxCCA COVERED 1073 0.4913003663003663 301 0.6117886178861789 143 0.39502762430939226 249 0.4353146853146853 380 0.5013192612137203 C 0.507 -0.868432 0.02590 0.626377 0.510316 ENSG00000255423 ENST00000533473 . . . 0.587 -0.462 0.12168 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41752 -0.9491 6 0.18710 T 0.47 . . . . rs2231924;rs3732439;rs52803163;rs2231924 46 Q6P2I7 EBLN2_HUMAN P 46 . ENSP00000432104:S46P S + 1 0 EBLN2 73194058 0.005000 0.15991 0.003000 0.11579 0.006000 0.05464 -1.034000 0.03567 -1.023000 0.03342 -0.684000 0.03749 TCC NOVEL EBLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386932.1 2 2.238781 KEEP 0 1 27 17 497 TT 0.999859 0.926509 0 + 3 60 98 0 0 6.448852 42 60 1237 84 ENST00000533473.1 0.066667 0.92664 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679993 75679993 __UNKNOWN__ RNA SNP C C T rs202177109 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:75679993C>T ENST00000408868.1 + 0 80 NR_031714.1 microRNA 1324 NA NA NA ATTCTATGCACTTTCCTGGAG 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 61 61 NA NA 3 NA 75679993 1568 3575 5143 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro NA MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679993C>T NA hg19 0.02 16.165525 GCAxTTT COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 28 2.863508 KEEP 24 20 601 221 7820 CC 1 1 0 + 36 60 1094 0 0 87.662842 142 60 4942 1099 ENST00000408868.1 0.202247 1 FRG2C 100288801 __UNKNOWN__ __UNKNOWN__ 3 75715682 75715682 __UNKNOWN__ 3'UTR SNP C C T rs77266648 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:75715682C>T ENST00000464571.1 + 0 1386 FRG2C_ENST00000308062.3_3'UTR A6NGY1 FRG2C_HUMAN FSHD region gene 2 family, member C NA NA nucleus (GO:0005634) breast(2)|ovary(1) 3 aggcatgtaccgccatgcctg 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43108.1 3p12.3 2009-11-25 ENSG00000172969 ENSG00000172969 100288801 33626 protein-coding gene gene with protein product NA NA Standard NM_001124759.1 NM_001124759 NA Approved A6NGY1 OTTHUMG00000158963 ENST00000464571.1:c.*490C>T chr3.hg19:g.75715682C>T NA hg19 0.02 1.438493 TACxGCC COVERED NOVEL FRG2C-002 NOVEL NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000352695.1 29 2.876516 KEEP 1 2 58 30 1005 CC 0.999997 0.992091 0 + 4 60 127 0 1 9.374371 28 60 924 114 ENST00000464571.1 0.125 0.992094 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786355 75786355 __UNKNOWN__ Missense_Mutation SNP T T A rs80256387 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:75786355T>A ENST00000478296.1 - 4 2545 c.2269A>T c.(2269-2271)Act>Tct p.T757S ZNF717_ENST00000400845.3_Missense_Mutation_p.T800S|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000422325.1_Missense_Mutation_p.T807S|ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 797 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCTGTGTGAGTTCTCTGATGT 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 32 25 27 NA NA 3 NA 75786355 683 1406 2089 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.2269A>T chr3.hg19:g.75786355T>A ENSP00000419377:p.Thr757Ser NA hg19 0.02 8.901474 GAGxTCT COVERED . . . . . . . . . . . 16.22 3.061734 0.55432 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.19394 2.15;2.15;2.15 1.79 1.79 0.24919 . . . . . T 0.14013 0.0339 N 0.20986 0.625 0.45995 P 0.0011959999999999749 B 0.14805 0.011 B 0.22601 0.04 T 0.11916 -1.0568 8 0.56958 D 0.05 . 7.6674 0.28439 0.0:0.0:0.0:1.0 . 807 C9JSV9 . S 757;807;800 ENSP00000419377:T757S;ENSP00000409514:T807S;ENSP00000383643:T800S ENSP00000383643:T800S T - 1 0 ZNF717 75869045 0.000000 0.05858 0.982000 0.44146 0.500000 0.33767 0.483000 0.22292 1.120000 0.41904 0.363000 0.22086 ACT NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 14 3.342676 KEEP 0 7 210 85 2642 TT 1 1 0 - 21 60 633 0 0 46.632322 134 70 4208 470 ENST00000478296.1 0.135484 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786933 75786933 __UNKNOWN__ Missense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:75786933G>A ENST00000478296.1 - 4 1967 c.1691C>T c.(1690-1692)aCa>aTa p.T564I ZNF717_ENST00000400845.3_Missense_Mutation_p.T607I|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000422325.1_Missense_Mutation_p.T614I|ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 607 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TCTTTCCCCTGTGTGAGTTCT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 15 19 18 NA NA 3 NA 75786933 631 1555 2186 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.1691C>T chr3.hg19:g.75786933G>A ENSP00000419377:p.Thr564Ile NA hg19 0.02 6.049722 CCTxTGT COVERED . . . . . . . . . . . 13.93 2.383733 0.42308 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.25749 1.78;1.78;1.78 1.9 1.0 0.19881 . . . . . T 0.42337 0.1198 M 0.73430 2.235 0.28857 N 0.895702 D 0.53619 0.961 P 0.60286 0.872 T 0.29027 -1.0025 9 0.87932 D 0 . 6.9097 0.24329 0.1623:0.0:0.8377:0.0 . 614 C9JSV9 . I 564;614;607 ENSP00000419377:T564I;ENSP00000409514:T614I;ENSP00000383643:T607I ENSP00000383643:T607I T - 2 0 ZNF717 75869623 0.536000 0.26378 0.228000 0.23943 0.004000 0.04260 0.529000 0.23019 0.387000 0.25024 -0.290000 0.09829 ACA NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 16 13.293835 KEEP 0 2 59 65 2222 GG 1 1 0 - 17 60 500 0 0 33.996287 156 60 5348 377 ENST00000478296.1 0.098266 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786942 75786942 __UNKNOWN__ Missense_Mutation SNP C C A rs2918517 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:75786942C>A ENST00000478296.1 - 4 1958 c.1682G>T c.(1681-1683)aGa>aTa p.R561I ZNF717_ENST00000400845.3_Missense_Mutation_p.R604I|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000422325.1_Missense_Mutation_p.R611I|ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 604 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TGTGTGAGTTCTCTTGTGTAT 0.398 NA NA a||| 2 0.000399361 8e-04 0 5008 , , NA 9749 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 14 18 17 NA NA 3 NA 75786942 631 1553 2184 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.1682G>T chr3.hg19:g.75786942C>A ENSP00000419377:p.Arg561Ile NA hg19 0.02 6.177567 GTTxTCT COVERED . . . . . . . . . . . 14.82 2.649232 0.47362 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.02446 4.29;4.29;4.29 1.9 -0.239 0.13050 . . . . . T 0.02267 0.0070 . . . 0.34476 D 0.703399 P 0.36990 0.577 B 0.33295 0.161 T 0.50320 -0.8842 8 0.56958 D 0.05 . 4.0798 0.09921 0.2262:0.6215:0.0:0.1522 rs2918517;rs60787578 611 C9JSV9 . I 561;611;604 ENSP00000419377:R561I;ENSP00000409514:R611I;ENSP00000383643:R604I ENSP00000383643:R604I R - 2 0 ZNF717 75869632 0.000000 0.05858 0.008000 0.14137 0.001000 0.01503 -0.010000 0.12743 -0.048000 0.13401 -0.290000 0.09829 AGA NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 17 9.628408 KEEP 0 3 85 62 2151 CC 1 1 0 - 20 60 592 0 0 41.346726 163 60 5605 400 ENST00000478296.1 0.10929 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75786993 75786993 __UNKNOWN__ Missense_Mutation SNP T T A rs149887072 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:75786993T>A ENST00000478296.1 - 4 1907 c.1631A>T c.(1630-1632)aAt>aTt p.N544I ZNF717_ENST00000400845.3_Missense_Mutation_p.N587I|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000422325.1_Missense_Mutation_p.N594I|ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 587 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CTCACATTCATTACATTCATA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 5 4 NA NA 3 NA 75786993 562 1458 2020 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.1631A>T chr3.hg19:g.75786993T>A ENSP00000419377:p.Asn544Ile NA hg19 0.02 6.695394 TCAxTAC COVERED . . . . . . . . . . . 12.22 1.873449 0.33069 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.07567 3.18;3.18;3.18 1.9 -2.88 0.05682 . . . . . T 0.10380 0.0254 L 0.52823 1.66 0.09310 N 1 P 0.50369 0.934 P 0.49421 0.61 T 0.12811 -1.0533 9 0.41790 T 0.15 . 3.9431 0.09336 0.0:0.3016:0.4104:0.288 . 594 C9JSV9 . I 544;594;587 ENSP00000419377:N544I;ENSP00000409514:N594I;ENSP00000383643:N587I ENSP00000383643:N587I N - 2 0 ZNF717 75869683 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -1.944000 0.01538 -0.642000 0.05480 0.450000 0.29827 AAT NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 16 3.410392 KEEP 0 6 184 76 2358 TT 1 1 0 - 19 60 573 0 0 40.320288 156 60 4760 439 ENST00000478296.1 0.108571 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75788432 75788432 __UNKNOWN__ Missense_Mutation SNP T T A rs143693332 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:75788432T>A ENST00000478296.1 - 4 468 c.192A>T c.(190-192)caA>caT p.Q64H ZNF717_ENST00000400845.3_Missense_Mutation_p.Q107H|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000422325.1_Missense_Mutation_p.Q114H|ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 107 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.Q114H(1) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TGATTACAATTTGCCAGAAAA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) stomach(1) 1 1 1 NA NA 3 NA 75788432 366 869 1235 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product NA zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.192A>T chr3.hg19:g.75788432T>A ENSP00000419377:p.Gln64His NA hg19 0.02 2.701919 AATxTGC COVERED . . . . . . . . . . . 10.54 1.378407 0.24944 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.46819 0.86;0.86;0.86 2.13 0.901 0.19284 . . . . . T 0.43322 0.1242 N 0.21373 0.66 0.09310 N 1 D 0.54964 0.969 P 0.56042 0.79 T 0.25433 -1.0132 9 0.51188 T 0.08 . 6.8345 0.23929 0.0:0.0:0.2348:0.7651 rs11122680 114 C9JSV9 . H 64;114;107 ENSP00000419377:Q64H;ENSP00000409514:Q114H;ENSP00000383643:Q107H ENSP00000383643:Q107H Q - 3 2 ZNF717 75871122 0.001000 0.12720 0.006000 0.13384 0.005000 0.04900 0.097000 0.15168 0.264000 0.21851 -0.462000 0.05337 CAA NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 7 4.013066 KEEP 0 3 93 46 1447 TT 1 1 0 - 12 60 359 0 0 24.055455 123 60 3682 275 ENST00000478296.1 0.088889 1 CGGBP1 8545 __UNKNOWN__ __UNKNOWN__ 3 88101339 88101339 __UNKNOWN__ 3'UTR SNP T T C rs144720743 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:88101339T>C ENST00000398392.2 - 0 5120 CGGBP1_ENST00000309534.6_3'UTR Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227) kidney(1)|large_intestine(2)|lung(2) 5 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) TAGATAAGAATTGTATTTACC 0.313 NA NA T||| 27 0.00539137 0 0.0144 5008 , , NA 17236 0 NA 0.0129 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ000258 CCDS43111.1 3p12-p11.1 2008-07-18 ENSG00000163320 ENSG00000163320 8545 1888 protein-coding gene gene with protein product p20-CGG binding protein 603363 NA 9201980, 14667814 Standard NM_001008390 NM_001195308 NA Approved p20-CGGBP, CGGBP uc003dqt.3 Q9UFW8 OTTHUMG00000159009 ENST00000398392.2:c.*3284A>G chr3.hg19:g.88101339T>C NA D3DU38|O15183 hg19 CCDS43111.1 0.02 -0.429771 GAAxTGT COVERED NOVEL CGGBP1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352955.1 2 9.327567 KEEP 0 0 0 31 968 TT 0.999997 0.954489 0 - 4 60 136 0 0 9.531876 44 60 1360 110 ENST00000398392.2 0.083333 0.954491 DHFRL1 200895 __UNKNOWN__ __UNKNOWN__ 3 93778642 93778642 __UNKNOWN__ 3'UTR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:93778642G>C ENST00000394221.2 - 0 2163 DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_3'UTR NM_001195643.1 NP_001182572.1 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 NA NA glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661) kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 tgcagtggctgatgcctgtaa 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832912 CCDS2926.1 3q11.2 2005-08-16 2005-02-07 ENSG00000178700 ENSG00000178700 200895 27309 protein-coding gene gene with protein product NA dihydrofolate reductase pseudogene 4 DHFRP4 NA 12477932 Standard NM_176815 NM_001195643 NA Approved FLJ16119 uc003drj.3 Q86XF0 OTTHUMG00000159014 ENST00000394221.2:c.*1150C>G chr3.hg19:g.93778642G>C NA D3DN30|Q6P4I9 hg19 CCDS2926.1 0.02 3.903346 GCTxATG COVERED NOVEL DHFRL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352910.1 27 14.179532 KEEP 0 1 28 57 1984 GG 1 0.999994 0 - 6 60 209 0 0 13.729283 101 60 3372 234 ENST00000394221.2 0.056075 0.999994 DHFRL1 200895 __UNKNOWN__ __UNKNOWN__ 3 93778644 93778644 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:93778644T>C ENST00000394221.2 - 0 2161 DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_3'UTR NM_001195643.1 NP_001182572.1 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 NA NA glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661) kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 cagtggctgatgcctgtaatc 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832912 CCDS2926.1 3q11.2 2005-08-16 2005-02-07 ENSG00000178700 ENSG00000178700 200895 27309 protein-coding gene gene with protein product NA dihydrofolate reductase pseudogene 4 DHFRP4 NA 12477932 Standard NM_176815 NM_001195643 NA Approved FLJ16119 uc003drj.3 Q86XF0 OTTHUMG00000159014 ENST00000394221.2:c.*1148A>G chr3.hg19:g.93778644T>C NA D3DN30|Q6P4I9 hg19 CCDS2926.1 0.02 3.81302 TGAxGCC COVERED NOVEL DHFRL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352910.1 26 12.667585 KEEP 0 1 37 55 1678 TT 1 0.999993 0 - 5 60 168 0 0 10.463598 100 60 2920 231 ENST00000394221.2 0.047619 0.999993 OR5K1 26339 __UNKNOWN__ __UNKNOWN__ 3 98189084 98189084 __UNKNOWN__ Missense_Mutation SNP C C T rs199850452 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:98189084C>T ENST00000332650.5 + 1 761 c.664C>T c.(664-666)Ctt>Ttt p.L222F NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 222 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCTCTATATTCTTCTTACTAT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 104 109 108 NA NA 3 NA 98189084 2199 4297 6496 SO:0001583 missense X64984 CCDS43115.1 3q11.2 2013-09-23 ENSG00000232382 ENSG00000232382 26339 GPCR / Class A : Olfactory receptors 8349 protein-coding gene gene with protein product NA NA 1370859 Standard NM_001004736 NA Approved HTPCRX10, HSHTPCRX10 uc003dsm.3 Q8NHB7 OTTHUMG00000160048 ENST00000332650.5:c.664C>T chr3.hg19:g.98189084C>T ENSP00000373193:p.Leu222Phe NA B9EGY5|Q6IF46 hg19 CCDS43115.1 0.02 -0.280636 ATTxTTC COVERED . . . . . . . . . . C 5.038 0.192748 0.09599 . . ENSG00000232382 ENST00000332650 T 0.00123 8.7 4.75 2.92 0.33932 GPCR, rhodopsin-like superfamily (1); 0.201544 0.24659 N 0.036658 T 0.00109 0.0003 L 0.31526 0.94 0.09310 N 1 B 0.21071 0.051 B 0.30029 0.11 T 0.08006 -1.0743 10 0.30078 T 0.28 -8.8918 7.6244 0.28204 0.333:0.5054:0.1616:0.0 . 222 Q8NHB7 OR5K1_HUMAN F 222 ENSP00000373193:L222F ENSP00000373193:L222F L + 1 0 OR5K1 99671774 0.000000 0.05858 0.730000 0.30809 0.370000 0.29829 -0.416000 0.07097 0.562000 0.29204 -0.311000 0.09066 CTT NOVEL OR5K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359019.1 3 7.823809 KEEP 0 0 0 26 885 CC 0.999957 0.73964 0 + 4 60 109 0 0 7.697312 26 60 822 71 ENST00000332650.5 0.133333 0.739671 CLDND1 56650 __UNKNOWN__ __UNKNOWN__ 3 98225660 98225660 __UNKNOWN__ Intron SNP T T G rs3762660 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:98225660T>G ENST00000507874.1 - 6 699 CLDND1_ENST00000502288.1_Intron Q9NY35 CLDN1_HUMAN claudin domain containing 1 NA NA apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 9 cacatgatctttaggacctca 0.458 NA NA T||| 885 0.176717 0.0726 0.2622 5008 , , NA 21200 0.2708 NA 0.1133 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF116664 CCDS2930.1, CCDS43116.1 3q12.1 2005-12-23 2005-12-23 2005-12-23 ENSG00000080822 56650 1322 protein-coding gene gene with protein product NA chromosome 3 open reading frame 4 C3orf4 NA Standard NM_019895 NM_001040181 NA Approved uc003dst.3 Q9NY35 ENST00000507874.1:c.542-5296A>C chr3.hg19:g.98225660T>G NA B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9 hg19 0.02 1.923701 TCTxTAG COVERED NOVEL CLDND1-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359073.2 4 7.52137 KEEP 0 0 0 25 771 TT 0.999931 0.970753 0 - 4 60 133 0 0 9.053593 49 60 1544 116 ENST00000507874.1 0.075472 0.97082 ST3GAL6 10402 __UNKNOWN__ __UNKNOWN__ 3 98512610 98512610 __UNKNOWN__ 3'UTR SNP A A G rs71311394 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:98512610A>G ENST00000483910.1 + 0 1290 ST3GAL6_ENST00000265261.6_3'UTR|ST3GAL6_ENST00000394162.1_3'UTR|ST3GAL6_ENST00000462152.1_3'UTR NM_001271146.1 NP_001258075.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021) beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 GATTGACTCTACAGACTCAGA 0.333 NA NA A||| 158 0.0315495 0.0492 0.0288 5008 , , NA 18287 0.001 NA 0.0636 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 A 259,4147 145.4+/-180.2 8,243,1952 83 85 84 3.3 0 3 dbSNP_130 84 565,8035 153.0+/-207.5 18,529,3753 no utr-3 ST3GAL6 NM_006100.2 26,772,5705 GG,GA,AA 6.5698,5.8783,6.3355 98512610 824,12182 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF119391 CCDS2933.1, CCDS59452.1, CCDS74968.1 3q12.2 2013-03-01 2005-02-07 2005-02-07 ENSG00000064225 ENSG00000064225 10402 Sialyltransferases 18080 protein-coding gene gene with protein product 607156 sialyltransferase 10 (alpha-2,3-sialyltransferase VI) SIAT10 NA 10206952 Standard NM_006100 NM_006100 NA Approved ST3GALVI uc010hpd.4 Q9Y274 OTTHUMG00000159047 ENST00000483910.1:c.*5A>G chr3.hg19:g.98512610A>G NA B2RCH2|B3KMI1|D3DN39|F8W6U0 hg19 CCDS2933.1 0.02 3.865197 TCTxCAG COVERED NOVEL ST3GAL6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353013.2 7 34.292207 KEEP 0 0 0 114 3333 AA 1 0.999981 0 + 5 60 170 0 0 10.726244 97 60 2851 311 ENST00000483910.1 0.04902 0.999981 DCBLD2 131566 __UNKNOWN__ __UNKNOWN__ 3 98517568 98517568 __UNKNOWN__ 3'UTR SNP G G A rs11552978 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:98517568G>A ENST00000326840.6 - 0 3338 DCBLD2_ENST00000326857.9_3'UTR NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 NA NA cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 AACACGCAAGGATGAGACCAG 0.428 NA NA G||| 172 0.034345 0.0582 0.0303 5008 , , NA 18310 0.001 NA 0.0646 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46878.1 3q12.2 2006-04-12 ENSG00000057019 ENSG00000057019 131566 24627 protein-coding gene gene with protein product 608698 NA 11447234 Standard NM_080927 NM_080927 NA Approved CLCP1, ESDN uc003dtd.3 Q96PD2 OTTHUMG00000151985 ENST00000326840.6:c.*648C>T chr3.hg19:g.98517568G>A NA B7WNL1|D3DN41|Q8N6M4|Q8TDX2 hg19 CCDS46878.1 0.02 -0.412306 AAGxATG COVERED NOVEL DCBLD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324675.2 4 6.922139 KEEP 0 0 0 23 787 GG 0.999892 0.94164 0 - 4 60 119 0 0 7.911439 42 60 1444 96 ENST00000326840.6 0.086957 0.941741 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111635605 111635605 __UNKNOWN__ Intron SNP A A G rs968825 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:111635605A>G ENST00000495180.1 + 3 499 PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000477695.1_3'UTR|PHLDB2_ENST00000431670.2_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TTTGGCTGCAAAAAGGGTTTT 0.473 NA NA A||| 2275 0.454273 0.2761 0.4366 5008 , , NA 17664 0.7361 NA 0.3887 False NA ,,, NA NA NA 2504 0.4847 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.478-2314A>G chr3.hg19:g.111635605A>G NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 1.558124 GCAxAAA COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 4 11.128999 KEEP 0 0 0 37 1096 AA 1 0.997553 0 + 4 60 130 0 0 8.205034 68 60 2060 152 ENST00000495180.1 0.055556 0.997553 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111636102 111636102 __UNKNOWN__ Intron SNP A A G rs3749297 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:111636102A>G ENST00000495180.1 + 3 499 PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000477695.1_3'UTR|PHLDB2_ENST00000431670.2_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TACTGTGATAAACTTTCTAAA 0.274 NA NA A||| 2270 0.453275 0.2716 0.4366 5008 , , NA 17544 0.7361 NA 0.3887 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.478-1817A>G chr3.hg19:g.111636102A>G NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 1.713321 ATAxACT COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 2 14.441479 KEEP 0 0 0 48 1501 AA 1 0.998867 0 + 5 60 174 0 0 11.781824 71 70 2133 176 ENST00000495180.1 0.065789 0.998867 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111695124 111695124 __UNKNOWN__ 3'UTR SNP T T C rs3177104 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:111695124T>C ENST00000495180.1 + 0 3971 PHLDB2_ENST00000412622.1_3'UTR|PHLDB2_ENST00000481953.1_3'UTR|PHLDB2_ENST00000431670.2_3'UTR Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 ACTCATCTCTTATTTTGAAGT 0.289 NA NA C||| 866 0.172923 0.1997 0.2219 5008 , , NA 19891 0.1151 NA 0.2177 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.*1714T>C chr3.hg19:g.111695124T>C NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 -0.377063 TCTxATT COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 2 10.527344 KEEP 0 0 0 35 1013 TT 0.999999 0.909068 0 + 3 60 103 0 0 7.008692 40 60 1132 103 ENST00000495180.1 0.069767 0.909069 ATP6V1A 523 __UNKNOWN__ __UNKNOWN__ 3 113530788 113530788 __UNKNOWN__ 3'UTR SNP G G A rs16861351 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:113530788G>A ENST00000273398.3 + 0 4476 NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180) ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133) CCTGAATAACGAATAGAAGAG 0.323 NA NA G||| 76 0.0151757 8e-04 0.0764 5008 , , NA 17810 0.0198 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L09235 CCDS2976.1 3q13.31 2010-04-21 2002-08-29 2003-04-25 ENSG00000114573 ENSG00000114573 523 3.6.3.14 ATPases / V-type 851 protein-coding gene gene with protein product 607027 ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1 VPP2, ATP6A1, ATP6V1A1 NA 8463241 Standard NM_001690 NM_001690 NA Approved Vma1, VA68 uc003eao.3 P38606 OTTHUMG00000159295 ENST00000273398.3:c.*2514G>A chr3.hg19:g.113530788G>A NA B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3 hg19 CCDS2976.1 0.02 -0.394692 AACxAAT COVERED NOVEL ATP6V1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354457.1 1 4.513813 KEEP 0 0 0 15 480 GG 0.99649 0.923388 0 + 4 60 107 0 0 6.758353 41 60 1301 76 ENST00000273398.3 0.088889 0.92664 CCDC58 131076 __UNKNOWN__ __UNKNOWN__ 3 122078748 122078748 __UNKNOWN__ Nonsense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:122078748G>A ENST00000291458.5 - 5 409 c.403C>T c.(403-405)Cga>Tga p.R135* CCDC58_ENST00000479899.1_Nonsense_Mutation_p.R121*|CCDC58_ENST00000497726.1_Nonsense_Mutation_p.R44*|CCDC58_ENST00000466854.1_Intron NM_001017928.2 NP_001017928.1 Q4VC31 CCD58_HUMAN coiled-coil domain containing 58 135 NA mitochondrion (GO:0005739) large_intestine(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.148) AAGTGAATTCGGCAGCGTTCA 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 69 71 71 NA NA 3 NA 122078748 2203 4300 6503 SO:0001587 stop_gained AK090592 CCDS33838.1 3q21.1 2006-01-17 ENSG00000160124 ENSG00000160124 131076 31136 protein-coding gene gene with protein product NA NA Standard NM_001017928 XM_005247108 NA Approved FLJ33273 uc003eey.3 Q4VC31 OTTHUMG00000159490 ENST00000291458.5:c.403C>T chr3.hg19:g.122078748G>A ENSP00000291458:p.Arg135* NA Q32LY6 hg19 CCDS33838.1 0.02 1.140237 TTCxGCA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.37|16.37 3.105283|3.105283 0.56291|0.56291 .|. .|. ENSG00000160124|ENSG00000160124 ENST00000479414|ENST00000291458;ENST00000497726;ENST00000479899 .|. .|. .|. 4.85|4.85 3.91|3.91 0.45181|0.45181 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|. 0.33089|. 0.0851|. .|. .|. .|. 0.58432|0.58432 D|D 0.999998|0.999998 .|. .|. .|. .|. .|. .|. T|. 0.14924|. -1.0455|. 4|. .|0.02654 .|T .|1 .|. 12.0667|12.0667 0.53592|0.53592 0.0:0.0:0.8168:0.1832|0.0:0.0:0.8168:0.1832 .|. .|. .|. .|. L|X 131|135;44;121 .|. .|ENSP00000291458:R135X P|R -|- 2|1 0|2 CCDC58|CCDC58 123561438|123561438 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 1.435000|1.435000 0.34969|0.34969 2.529000|2.529000 0.85273|0.85273 0.655000|0.655000 0.94253|0.94253 CCG|CGA NOVEL CCDC58-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355754.1 13 12.941345 KEEP 0 0 0 43 1464 GG 1 0.99994 0 - 4 60 128 0 0 7.494872 92 60 3037 181 ENST00000291458.5 0.041667 0.99994 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124439685 124439685 __UNKNOWN__ 3'UTR SNP A A G rs1162|rs35051209 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:124439685A>G ENST00000291478.5 + 0 5401 KALRN_ENST00000428018.2_3'UTR|KALRN_ENST00000360013.3_3'UTR NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATTTTTGTTCATTTGTTTTGG 0.328 NA NA A||| 1974 0.394169 0.5393 0.3746 5008 , , NA 18234 0.2659 NA 0.2853 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000291478.5:c.*1368A>G chr3.hg19:g.124439685A>G NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3028.1 0.02 1.800992 TTCxTTT COVERED NOVEL KALRN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000246891.5 3 11.429414 KEEP 0 0 0 38 1118 AA 1 0.995083 0 + 4 60 134 0 0 8.732861 63 60 1861 147 ENST00000291478.5 0.059701 0.995084 ITGB5 3693 __UNKNOWN__ __UNKNOWN__ 3 124481987 124481987 __UNKNOWN__ 3'UTR SNP A A G rs2676 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:124481987A>G ENST00000296181.4 - 0 3179 NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179) cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) receptor activity (GO:0004872) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) GCCATCACGCAGAAAAGTCTC 0.418 NA NA A||| 988 0.197284 0.1952 0.2651 5008 , , NA 20841 0.1617 NA 0.1531 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J05633 CCDS3030.1 3q21.2 2010-03-23 ENSG00000082781 ENSG00000082781 3693 Integrins 6160 protein-coding gene gene with protein product 147561 NA 2211615 Standard NM_002213 NM_002213 NA Approved uc003eho.3 P18084 OTTHUMG00000159432 ENST00000296181.4:c.*483T>C chr3.hg19:g.124481987A>G NA B0LPF8|B2RD70 hg19 CCDS3030.1 0.02 1.856765 CGCxGAA COVERED NOVEL ITGB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355286.3 2 11.131586 KEEP 0 0 0 37 1124 AA 1 0.997553 0 - 4 60 133 0 0 8.505439 68 60 2056 150 ENST00000296181.4 0.055556 0.997553 CHST13 166012 __UNKNOWN__ __UNKNOWN__ 3 126261345 126261345 __UNKNOWN__ Missense_Mutation SNP G G A rs1056522 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:126261345G>A ENST00000319340.2 + 3 1000 c.950G>A c.(949-951)cGg>cAg p.R317Q NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 317 NA R -> Q (in dbSNP:rs1056522). {ECO:0000269|PubMed:15489334}. carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537) central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) TTCTACCAGCGGCGCCTCTTC 0.687 NA NA G||| 1612 0.321885 0.4622 0.3444 5008 , , NA 9648 0.2569 NA 0.2992 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 G GLN/ARG 1519,2051 338,843,604 11 11 11 950 2 1 3 dbSNP_86 11 2065,5231 339,1387,1922 yes missense CHST13 NM_152889.2 43 677,2230,2526 AA,AG,GG 28.3032,42.549,32.9836 probably-damaging 317/342 126261345 3584,7282 1785 3648 5433 SO:0001583 missense AY120869 CCDS3039.1 3q21.3 2008-02-05 ENSG00000180767 ENSG00000180767 166012 2.8.2.5 Sulfotransferases, membrane-bound 21755 protein-coding gene gene with protein product 610124 NA 12080076 Standard NM_152889 NM_152889 NA Approved C4ST3 uc003eja.3 Q8NET6 OTTHUMG00000162721 ENST00000319340.2:c.950G>A chr3.hg19:g.126261345G>A ENSP00000317404:p.Arg317Gln NA Q3SYA3|Q3SYA5 hg19 CCDS3039.1 0.02 5.818092 AGCxGCG COVERED 738 0.33791208791208793 232 0.4715447154471545 126 0.34806629834254144 151 0.263986013986014 229 0.3021108179419525 G 7.729 0.698807 0.15106 0.42549 0.283032 ENSG00000180767 ENST00000319340 T 0.72942 -0.7 3.89 1.96 0.26148 . 0.134719 0.44688 U 0.000428 T 0.00012 0.0000 L 0.41824 1.3 0.09310 P 0.99999902818 B 0.28419 0.211 B 0.28011 0.085 T 0.45041 -0.9288 9 0.26408 T 0.33 -22.0086 7.5408 0.27737 0.2353:0.0:0.7647:0.0 rs1056522;rs3172309;rs59933474;rs1056522 317 Q8NET6 CHSTD_HUMAN Q 317 ENSP00000317404:R317Q ENSP00000317404:R317Q R + 2 0 CHST13 127744035 1.000000 0.71417 0.995000 0.50966 0.060000 0.15804 1.832000 0.39151 0.102000 0.17638 0.313000 0.20887 CGG NOVEL CHST13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370201.2 5 55.369554 KEEP 0 0 0 184 6088 GG 1 1 0 + 8 60 242 0 0 13.303385 201 60 6789 551 ENST00000319340.2 0.038278 1 CDV3 55573 __UNKNOWN__ __UNKNOWN__ 3 133292588 133292588 __UNKNOWN__ 5'UTR SNP C C T rs548505487 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:133292588C>T ENST00000264993.3 + 0 15 NM_001134422.1|NM_001282763.1|NM_017548.4 NP_001127894.1|NP_001269692.1|NP_060018.1 Q9UKY7 CDV3_HUMAN CDV3 homolog (mouse) NA NA cell proliferation (GO:0008283) cytoplasm (GO:0005737)|nucleolus (GO:0005730) kidney(3)|lung(1)|prostate(1) 5 CTCGCGCGTGCCTTTTCCCCT 0.731 NA NA C||| 1 0.000199681 0 0 5008 , , NA 7288 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK096865 CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1 3q22.1 2008-02-05 ENSG00000091527 ENSG00000091527 55573 26928 protein-coding gene gene with protein product NA NA 10497265 Standard NM_017548 NM_017548 NA Approved H41 uc003epq.3 Q9UKY7 OTTHUMG00000159764 ENST00000264993.3:c.-301C>T chr3.hg19:g.133292588C>T NA B3KUC2|Q96IP9 hg19 CCDS3079.1 0.02 4.194293 GTGxCTT COVERED NOVEL CDV3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357203.1 1 3.420439 KEEP 0 9 257 102 3635 CC 1 1 0 + 8 60 237 0 0 13.551112 161 60 5637 451 ENST00000264993.3 0.047337 1 PLSCR4 57088 __UNKNOWN__ __UNKNOWN__ 3 145914641 145914641 __UNKNOWN__ Intron SNP A A G rs559356433 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:145914641A>G ENST00000354952.2 - 7 865 PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Intron|PLSCR4_ENST00000446574.2_Intron|PLSCR4_ENST00000383083.2_Intron NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 NA NA cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128) kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 ACTTACACATACGCACATACA 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF199023 CCDS3133.1, CCDS54651.1 3q24 2008-07-18 ENSG00000114698 ENSG00000114698 57088 16497 protein-coding gene gene with protein product 607612 NA 10930526 Standard NM_020353 NM_020353 NA Approved uc003evt.4 Q9NRQ2 OTTHUMG00000159415 ENST00000354952.2:c.625-61T>C chr3.hg19:g.145914641A>G NA A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505 hg19 CCDS3133.1 0.02 -0.333267 CATxCGC COVERED NOVEL PLSCR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355172.1 2 7.51737 KEEP 0 0 0 25 689 AA 0.999931 0.851925 0 - 3 60 100 0 0 6.875727 35 60 1022 80 ENST00000354952.2 0.078947 0.851984 AGTR1 185 __UNKNOWN__ __UNKNOWN__ 3 148459988 148459988 __UNKNOWN__ 3'UTR SNP A A C rs5186 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:148459988A>C ENST00000497524.1 + 0 1557 AGTR1_ENST00000349243.3_3'UTR|AGTR1_ENST00000475347.1_3'UTR|AGTR1_ENST00000402260.1_3'UTR|AGTR1_ENST00000418473.2_3'UTR|AGTR1_ENST00000474935.1_3'UTR|AGTR1_ENST00000404754.2_3'UTR|AGTR1_ENST00000542281.1_3'UTR|AGTR1_ENST00000461609.1_3'UTR NM_009585.3 NP_033611.1 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 NA NA angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982) breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CCAAATGAGCATTAGCTACTT 0.378 NA NA A||| 590 0.117812 0.0204 0.2334 5008 , , NA 19318 0.0595 NA 0.2724 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 GRCh37 CR941553 AGTR1 R rs5186 A ,,,, 112,1640 4,104,768 73 65 68 http://www.ncbi.nlm.nih.gov/sites/varvu?gene ,,,, 3.2 0 3 dbSNP_52 68 1158,2824 152,854,985 no utr-3,utr-3,utr-3,utr-3,utr-3 AGTR1 NM_000685.4,NM_004835.3,NM_009585.3,NM_031850.2,NM_032049.2 ,,,, 156,958,1753 CC,CA,AA 29.0809,6.3927,22.1486 ,,,, ,,,, 148459988 1270,4464 876 1991 2867 SO:0001624 3_prime_UTR_variant M87290 CCDS3137.1 3q24 2012-08-08 2002-02-20 ENSG00000144891 ENSG00000144891 185 GPCR / Class A : Angiotensin receptors 336 protein-coding gene gene with protein product 106165 angiotensin receptor 1B AGTR1B NA 1550596 Standard NM_009585 NA Approved AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B uc003ewh.4 P30556 OTTHUMG00000159503 ENST00000497524.1:c.*86A>C chr3.hg19:g.148459988A>C NA Q13725|Q8TBK4 hg19 CCDS3137.1 0.02 1.783415 AGCxTTA COVERED NOVEL AGTR1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355807.1 3 14.137983 KEEP 0 0 0 47 1393 AA 1 0.996233 0 + 4 60 141 1 0 9.404555 64 60 1926 168 ENST00000497524.1 0.058824 0.996233 RNF13 11342 __UNKNOWN__ __UNKNOWN__ 3 149679482 149679482 __UNKNOWN__ 3'UTR SNP C C T rs115731746 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:149679482C>T ENST00000344229.3 + 0 2439 RNF13_ENST00000392894.3_3'UTR|RNF13_ENST00000361785.6_3'UTR NM_007282.4 NP_009213.1 O43567 RNF13_HUMAN ring finger protein 13 NA NA protein autoubiquitination (GO:0051865) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 11 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTTTTTTTAACGTTTTAATTA 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF037204 CCDS3146.1 3q25.1 2013-01-09 ENSG00000082996 ENSG00000082996 11342 RING-type (C3HC4) zinc fingers 10057 protein-coding gene gene with protein product 609247 NA Standard NM_183384 NM_183381 NA Approved RZF uc003exp.4 O43567 OTTHUMG00000150338 ENST00000344229.3:c.*591C>T chr3.hg19:g.149679482C>T NA A6NC87|B3KR12|Q05D66|Q6IBJ9 hg19 CCDS3146.1 0.02 4.744463 TAAxGTT COVERED NOVEL RNF13-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356876.1 10 19.798104 KEEP 1 4 123 109 3640 CC 1 1 0 + 13 21 419 0 0 28.073082 160 60 5288 419 ENST00000344229.3 0.075145 1 RP11-166N6.3 0 __UNKNOWN__ __UNKNOWN__ 3 150601401 150601401 __UNKNOWN__ Intron SNP C C T rs13069091 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:150601401C>T ENST00000569170.1 - 10 1127 FAM188B2_ENST00000397891.3_Intron|CLRN1-AS1_ENST00000476886.1_RNA NA NA NA ATTCAGATTGCTTTTCTTTTT 0.358 NA NA T||| 294 0.0587061 0.1316 0.0317 5008 , , NA 19296 0.003 NA 0.0338 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000569170.1:c.215+85G>A chr3.hg19:g.150601401C>T NA hg19 0.02 -0.368413 TTGxTTT COVERED NOVEL RP11-166N6.3-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000430534.1 2 3.611626 KEEP 0 0 0 12 413 CC 0.993634 0.893588 0 - 4 60 113 0 0 7.479235 38 60 1316 67 ENST00000569170.1 0.095238 0.899314 DHX36 170506 __UNKNOWN__ __UNKNOWN__ 3 153990749 153990749 __UNKNOWN__ 3'UTR SNP G G A rs355786 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:153990749G>A ENST00000496811.1 - 0 6318 NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 NA NA ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351) chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TAGAGCTTTTGCCCAAATTAA 0.318 NA NA G||| 2056 0.410543 0.3933 0.4049 5008 , , NA 14299 0.4812 NA 0.4115 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF217190 CCDS3171.1, CCDS54657.1 3q25.2 2012-09-20 2003-06-13 2003-06-20 ENSG00000174953 ENSG00000174953 170506 DEAH-boxes 14410 protein-coding gene gene with protein product 612767 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36 DDX36 NA Standard NM_020865 NM_020865 NA Approved MLEL1, KIAA1488 uc003ezy.4 Q9H2U1 OTTHUMG00000159109 ENST00000496811.1:c.*3211C>T chr3.hg19:g.153990749G>A NA B2RB00|Q70JU3|Q8IYE5|Q9P240 hg19 CCDS3171.1 0.02 1.642834 TTTxCCC COVERED NOVEL DHX36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353349.1 0 7.825679 KEEP 0 0 0 26 928 GG 0.999957 0.963732 0 - 4 60 121 1 0 7.960286 46 60 1628 113 ENST00000496811.1 0.08 0.963774 GPR149 344758 __UNKNOWN__ __UNKNOWN__ 3 154138978 154138978 __UNKNOWN__ Silent SNP C C T rs115604788 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:154138978C>T ENST00000389740.2 - 3 1572 c.1473G>A c.(1471-1473)gcG>gcA p.A491A NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 491 NA antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGTCAGAAAACGCATCCTTTT 0.418 NA NA C||| 58 0.0115815 8e-04 0.0029 5008 , , NA 18665 0.001 NA 0.0179 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 C 10,3786 0,10,1888 276 259 265 1473 -4.3 0 3 dbSNP_132 265 128,8102 2,124,3989 no coding-synonymous GPR149 NM_001038705.1 2,134,5877 TT,TC,CC 1.5553,0.2634,1.1475 491/732 154138978 138,11888 1898 4115 6013 SO:0001819 synonymous_variant AY255534 CCDS43162.1 3q25.2 2012-08-21 ENSG00000174948 ENSG00000174948 344758 GPCR / Class A : Orphans 23627 protein-coding gene gene with protein product NA NA 12679517 Standard XM_293580 NM_001038705 NA Approved PGR10, IEDA uc003faa.3 Q86SP6 OTTHUMG00000159131 ENST00000389740.2:c.1473G>A chr3.hg19:g.154138978C>T NA hg19 CCDS43162.1 0.02 1.280562 AAAxGCA COVERED NOVEL GPR149-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353430.1 7 9.931794 KEEP 0 0 0 33 1138 CC 0.999998 0.999315 0 - 6 60 183 0 0 11.882043 75 60 2483 147 ENST00000389740.2 0.074074 0.999317 VEPH1 79674 __UNKNOWN__ __UNKNOWN__ 3 156983414 156983414 __UNKNOWN__ Silent SNP T T C rs7652298 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:156983414T>C ENST00000362010.2 - 13 2473 c.2166A>G c.(2164-2166)aaA>aaG p.K722K RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Silent_p.K722K|VEPH1_ENST00000392833.2_Silent_p.K677K|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Silent_p.K677K NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 722 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA plasma membrane (GO:0005886) p.K722K(1) autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TCTCTTTAAGTTTTCCTTCTA 0.373 NA NA T||| 1170 0.233626 0.0522 0.4712 5008 , , NA 21410 0.3323 NA 0.2575 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T ,, 395,4011 196.4+/-220.7 23,349,1831 147 137 140 2031,2166,2166 1.8 1 3 dbSNP_116 140 2089,6511 360.1+/-331.8 241,1607,2452 no coding-synonymous,coding-synonymous,coding-synonymous VEPH1 NM_001167911.1,NM_001167912.1,NM_024621.2 ,, 264,1956,4283 CC,CT,TT 24.2907,8.965,19.0989 ,, 677/789,722/834,722/834 156983414 2484,10522 2203 4300 6503 SO:0001819 synonymous_variant AL713656 CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1 3q24-q25 2013-01-10 2012-12-10 ENSG00000197415 ENSG00000197415 79674 Pleckstrin homology (PH) domain containing 25735 protein-coding gene gene with protein product 609594 ventricular zone expressed PH domain homolog 1 (zebrafish) NA 11214970, 15388229 Standard NM_024621 NM_024621 NA Approved FLJ12604, KIAA1692 uc003fbk.2 Q14D04 OTTHUMG00000158711 ENST00000362010.2:c.2166A>G chr3.hg19:g.156983414T>C NA D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7 hg19 CCDS3179.1 0.02 1.573449 AAGxTTT COVERED NOVEL VEPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351845.3 7 11.432591 KEEP 0 0 0 38 1156 TT 1 0.999894 0 - 4 60 140 0 0 8.826932 85 60 2641 186 ENST00000362010.2 0.044944 0.999895 NAALADL2 254827 __UNKNOWN__ __UNKNOWN__ 3 175521509 175521509 __UNKNOWN__ 3'UTR SNP A A G rs7638113 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:175521509A>G ENST00000454872.1 + 0 3034 NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 NA NA integral component of membrane (GO:0016021) central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TATTTTATGAAATGAAGTTTC 0.289 NA NA A||| 1237 0.247005 0.441 0.2767 5008 , , NA 15643 0.122 NA 0.1312 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46960.1 3q26.3 2011-08-16 ENSG00000177694 ENSG00000177694 254827 23219 protein-coding gene gene with protein product glutamate carboxypeptidase II-type non-peptidase homologue 608806 NA 15168106 Standard NM_207015 NM_207015 NA Approved uc003fir.3 Q58DX5 OTTHUMG00000157120 ENST00000454872.1:c.*518A>G chr3.hg19:g.175521509A>G NA Q658X9|Q6H9J8|Q6H9J9|Q6PG38 hg19 CCDS46960.1 0.02 -0.403389 TGAxATG COVERED NOVEL NAALADL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347390.2 1 7.220994 KEEP 0 0 0 24 739 AA 0.999909 0.934407 0 + 3 60 105 0 0 7.117496 43 60 1284 93 ENST00000454872.1 0.065217 0.934492 NAALADL2 254827 __UNKNOWN__ __UNKNOWN__ 3 175523026 175523026 __UNKNOWN__ 3'UTR SNP T T G rs2184210 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:175523026T>G ENST00000454872.1 + 0 4551 NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 NA NA integral component of membrane (GO:0016021) central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) ATTTCTAAATTAATTTATTCC 0.299 NA NA G||| 2429 0.485024 0.8222 0.3847 5008 , , NA 17325 0.4772 NA 0.2127 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46960.1 3q26.3 2011-08-16 ENSG00000177694 ENSG00000177694 254827 23219 protein-coding gene gene with protein product glutamate carboxypeptidase II-type non-peptidase homologue 608806 NA 15168106 Standard NM_207015 NM_207015 NA Approved uc003fir.3 Q58DX5 OTTHUMG00000157120 ENST00000454872.1:c.*2035T>G chr3.hg19:g.175523026T>G NA Q658X9|Q6H9J8|Q6H9J9|Q6PG38 hg19 CCDS46960.1 0.02 -0.412088 AATxAAT COVERED NOVEL NAALADL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347390.2 0 12.331723 KEEP 0 0 0 41 1174 TT 1 0.941741 0 + 3 60 103 0 0 6.888903 44 60 1236 116 ENST00000454872.1 0.06383 0.941741 DGKG 1608 __UNKNOWN__ __UNKNOWN__ 3 185867283 185867283 __UNKNOWN__ 3'UTR SNP A A G rs6444109 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:185867283A>G ENST00000265022.3 - 0 3511 DGKG_ENST00000382164.4_3'UTR|DGKG_ENST00000344484.4_3'UTR|DGKG_ENST00000447054.1_Intron NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AGCTTTCCACAGCCTTTCTGC 0.512 NA NA G||| 3595 0.717851 0.6664 0.7507 5008 , , NA 17362 0.9147 NA 0.6252 False NA ,,, NA NA NA 2504 0.6564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF020945 CCDS3274.1, CCDS43181.1, CCDS43182.1 3q27-q28 2013-01-10 2002-08-29 ENSG00000058866 ENSG00000058866 1608 2.7.1.107 EF-hand domain containing 2853 protein-coding gene gene with protein product 601854 diacylglycerol kinase, gamma (90kD) DAGK3 NA 8034597 Standard NM_001080744 NA Approved uc003fqa.3 P49619 OTTHUMG00000156617 ENST00000265022.3:c.*596T>C chr3.hg19:g.185867283A>G NA B2RAH4|Q2M1H4|Q5FWG1 hg19 CCDS3274.1 0.02 3.771745 CACxGCC COVERED NOVEL DGKG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344800.3 4 14.172461 KEEP 0 1 34 59 1756 AA 1 1 0 - 5 60 170 0 0 10.31273 118 60 3574 253 ENST00000265022.3 0.04065 1 AHSG 197 __UNKNOWN__ __UNKNOWN__ 3 186337713 186337713 __UNKNOWN__ Missense_Mutation SNP T T C rs4917 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:186337713T>C ENST00000273784.5 + 6 822 c.746T>C c.(745-747)aTg>aCg p.M249T AHSG_ENST00000411641.2_Missense_Mutation_p.M248T NM_001622.2 NP_001613.2 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 248 Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}. NA acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GTGACCTGCATGGTGTTCCAA 0.453 NA NA .||| 3683 0.735423 0.7867 0.5965 5008 , , NA 18189 0.745 NA 0.6759 False NA ,,, NA NA NA 2504 0.816 NA NA NA NA 0 GRCh37 CM052829 AHSG M rs4917 C THR/MET 3303,1103 1224,855,124 90 90 90 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 743 -0.9 0 3 dbSNP_52 90 5607,2993 1822,1963,515 yes missense AHSG NM_001622.2 81 3046,2818,639 CC,CT,TT 34.8023,25.034,31.4932 benign 248/368 186337713 8910,4096 2203 4300 6503 SO:0001583 missense D67013, M16961 CCDS3278.1 3q27.3 2006-02-22 ENSG00000145192 ENSG00000145192 197 349 protein-coding gene gene with protein product 138680 NA 9322749, 7736783 Standard NM_001622 NM_001622 NA Approved FETUA, A2HS, HSGA uc003fqk.4 P02765 OTTHUMG00000156605 ENST00000273784.5:c.746T>C chr3.hg19:g.186337713T>C ENSP00000273784:p.Met249Thr NA A8K9N6|B2R7G1|O14961|O14962|Q9P152 hg19 0.02 1.452917 GCAxGGT COVERED 1542 0.7060439560439561 371 0.7540650406504065 242 0.6685082872928176 434 0.7587412587412588 495 0.6530343007915568 N 0.020 -1.446053 0.01089 0.74966 0.651977 ENSG00000145192 ENST00000411641;ENST00000541510;ENST00000273784 T;T 0.04119 3.7;3.7 5.45 -0.913 0.10500 . 0.842078 0.10916 N 0.620018 T 0.00012 0.0000 . . . 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.29852 -0.9998 8 0.02654 T 1 -1.1123 3.8259 0.08853 0.4207:0.2696:0.0:0.3097 rs4917;rs1130657;rs2518135;rs3189766;rs17403330;rs17433992;rs17846428;rs17857413;rs17859476;rs52793906;rs59454784;rs4917 314;249 F5H0Q5;C9JV77 .;. T 248;314;249 ENSP00000393887:M248T;ENSP00000273784:M249T ENSP00000273784:M249T M + 2 0 AHSG 187820407 0.002000 0.14202 0.013000 0.15412 0.092000 0.18411 -0.507000 0.06352 -0.293000 0.08986 -0.119000 0.15052 ATG NOVEL AHSG-002 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000344762.1 3 12.635197 KEEP 0 0 0 42 1272 TT 1 0.999559 0 + 4 60 132 0 0 8.130469 80 60 2355 180 ENST00000273784.5 0.047619 0.999559 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190023552 190023552 __UNKNOWN__ 3'UTR SNP T T C rs8298 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:190023552T>C ENST00000295522.3 - 0 3418 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TACAAATTCCTATTATAAAAC 0.264 NA NA C||| 3612 0.721246 0.9357 0.6138 5008 , , NA 17911 0.8036 NA 0.6034 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*2514A>G chr3.hg19:g.190023552T>C NA hg19 CCDS3295.1 0.02 1.991584 TCCxATT COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 7 11.133816 KEEP 0 0 0 37 1151 TT 1 0.995686 0 - 4 60 135 0 0 8.832386 63 60 1900 153 ENST00000295522.3 0.059701 0.995687 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190024457 190024457 __UNKNOWN__ 3'UTR SNP A A G rs9290928 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:190024457A>G ENST00000295522.3 - 0 2513 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) ccagacaccaatgccaacacc 0.423 NA NA G||| 3511 0.701078 0.8601 0.611 5008 , , NA 23891 0.8036 NA 0.6044 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*1609T>C chr3.hg19:g.190024457A>G NA hg19 CCDS3295.1 0.02 2.088079 CCAxTGC COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 1 8.724271 KEEP 0 0 0 29 875 AA 0.999997 0.981953 0 - 4 60 141 1 0 9.721195 53 60 1586 125 ENST00000295522.3 0.070175 0.981955 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190025617 190025617 __UNKNOWN__ 3'UTR SNP T T A rs9825098|rs200685867|rs386669503 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:190025617T>A ENST00000295522.3 - 0 1353 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TATGTATATATAGACGAAAAA 0.284 NA NA T||| 3493 0.697484 0.848 0.6095 5008 , , NA 15893 0.8036 NA 0.6034 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*449A>T chr3.hg19:g.190025617T>A NA hg19 CCDS3295.1 0.02 -0.21927 ATAxAGA COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 0 8.123239 KEEP 0 0 0 27 810 TT 0.999988 0.552881 0 - 3 60 98 0 0 7.249193 22 60 659 63 ENST00000295522.3 0.12 0.552887 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190025618 190025618 __UNKNOWN__ 3'UTR SNP A A G rs9842576|rs386669503|rs35558331 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:190025618A>G ENST00000295522.3 - 0 1352 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) ATGTATATATAGACGAAAAAG 0.284 NA NA A||| 3490 0.696885 0.8472 0.6066 5008 , , NA 16031 0.8036 NA 0.6034 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*448T>C chr3.hg19:g.190025618A>G NA hg19 CCDS3295.1 0.02 -0.219283 TATxGAC COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 0 8.124177 KEEP 0 0 0 27 829 AA 0.999988 0.552881 0 - 3 60 109 0 0 8.348434 22 60 667 63 ENST00000295522.3 0.12 0.552887 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195692419 195692419 __UNKNOWN__ RNA SNP C C G rs77887672 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:195692419C>G ENST00000427841.1 - 0 2089 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA CGCACCTGAGCCCAGAAACAC 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene NA succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195692419C>G NA hg19 0.02 1.921233 GAGxCCA COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 2 7.259426 KEEP 0 1 34 36 1283 CC 1 0.998695 0 - 9 49 315 0 0 23.789892 67 60 2384 186 ENST00000427841.1 0.118421 0.998696 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195702606 195702606 __UNKNOWN__ RNA SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:195702606C>A ENST00000427841.1 - 0 1356 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA GAATGCCGTCCATGTTATAAT 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene NA succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195702606C>A NA hg19 0.02 2.692694 GTCxATG COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 10 9.003569 KEEP 267 11 333 147 5103 CC 1 1 0 - 13 57 394 0 0 26.535084 134 60 4685 672 ENST00000427841.1 0.088435 1 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195702607 195702607 __UNKNOWN__ RNA SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:195702607A>G ENST00000427841.1 - 0 1355 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA AATGCCGTCCATGTTATAATG 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene NA succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195702607A>G NA hg19 0.02 3.913486 TCCxTGT COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 10 7.755714 KEEP 269 10 353 149 4373 AA 1 1 0 - 13 57 456 0 0 32.851528 131 60 3729 669 ENST00000427841.1 0.090278 1 PAK2 5062 __UNKNOWN__ __UNKNOWN__ 3 196529982 196529982 __UNKNOWN__ Missense_Mutation SNP A A G rs78043821 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:196529982A>G ENST00000327134.3 + 4 705 c.383A>G c.(382-384)aAg>aGg p.K128R NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 128 Autoregulatory region. {ECO:0000250}. NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296) breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) GATGTCCTAAAGTTCTACGAC 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 107 95 99 NA NA 3 NA 196529982 2203 4300 6503 SO:0001583 missense U24153 CCDS3321.1 3q29 2008-06-17 2008-06-17 ENSG00000180370 5062 2.7.11.1 8591 protein-coding gene gene with protein product S6/H4 kinase 605022 p21 (CDKN1A)-activated kinase 2 NA 7744004, 7618083 Standard NM_002577 NM_002577 NA Approved PAK65, PAKgamma uc003fwy.4 Q13177 ENST00000327134.3:c.383A>G chr3.hg19:g.196529982A>G ENSP00000314067:p.Lys128Arg NA Q13154|Q6ISC3 hg19 CCDS3321.1 0.02 3.967769 TAAxGTT COVERED . . . . . . . . . . A 21.6 4.176399 0.78564 . . ENSG00000180370 ENST00000327134 D 0.86230 -2.09 5.27 5.27 0.74061 PAK-box/P21-Rho-binding (1); 0.000000 0.85682 D 0.000000 D 0.86990 0.6066 L 0.55743 1.74 0.80722 D 1 P 0.37015 0.578 B 0.43155 0.41 D 0.86926 0.2070 10 0.48119 T 0.1 . 14.3609 0.66771 1.0:0.0:0.0:0.0 . 128 Q13177 PAK2_HUMAN R 128 ENSP00000314067:K128R ENSP00000314067:K128R K + 2 0 PAK2 198014379 1.000000 0.71417 0.990000 0.47175 0.859000 0.49053 6.986000 0.76200 2.002000 0.58637 0.460000 0.39030 AAG NOVEL PAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340548.1 9 13.879358 KEEP 0 1 37 59 1907 AA 1 0.999997 0 + 6 60 206 0 0 13.585287 95 60 2984 251 ENST00000327134.3 0.059406 0.999997 NCBP2 22916 __UNKNOWN__ __UNKNOWN__ 3 196662275 196662275 __UNKNOWN__ 5'UTR SNP C C T rs6796963 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:196662275C>T ENST00000467803.1 - 0 768 P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) GCAGCAACAACGATAAGTTCA 0.388 NA NA C||| 1088 0.217252 0.2935 0.1196 5008 , , NA 19983 0.1677 NA 0.2237 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D59253 CCDS3323.1, CCDS46986.1 3q29 2013-02-12 2002-08-29 ENSG00000114503 ENSG00000114503 22916 RNA binding motif (RRM) containing 7659 protein-coding gene gene with protein product 605133 nuclear cap binding protein subunit 2, 20kD NA 7478990, 7651522, 8682299 Standard NM_007362 NM_001042540 NA Approved NIP1, CBP20, Cbc2 uc003fxd.1 P52298 OTTHUMG00000155520 ENST00000467803.1:c.-3G>A chr3.hg19:g.196662275C>T NA B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50 hg19 0.02 -0.298243 CAAxGAT COVERED NOVEL NCBP2-014 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000340483.1 1 5.116666 KEEP 0 0 0 17 597 CC 0.999366 0.780565 0 - 4 60 104 0 0 7.022263 29 60 993 73 ENST00000467803.1 0.121212 0.78106 BDH1 622 __UNKNOWN__ __UNKNOWN__ 3 197265067 197265067 __UNKNOWN__ Intron SNP C C T rs552392427 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:197265067C>T ENST00000441275.1 - 3 359 BDH1_ENST00000358186.2_Intron|BDH1_ENST00000392379.1_Intron|BDH1_ENST00000392378.2_Intron Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 NA NA adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543) endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) ttcccagaagcggaggtcCTG 0.368 NA NA C||| 3 0.000599042 0 0 5008 , , NA 16343 0.003 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M93107 CCDS3328.1 3q29 2011-09-14 2005-11-15 2005-11-15 ENSG00000161267 ENSG00000161267 622 1.1.1.30 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 1027 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 9C, member 1 603063 3-hydroxybutyrate dehydrogenase (heart, mitochondrial) BDH NA 1639787, 19027726 Standard NM_004051 XM_005269352 NA Approved SDR9C1 uc003fxs.3 Q02338 OTTHUMG00000155478 ENST00000441275.1:c.174-4635G>A chr3.hg19:g.197265067C>T NA D3DXC0|Q96ET1|Q9BRZ4 hg19 0.02 -0.228076 AAGxGGA COVERED NOVEL BDH1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000340268.1 1 6.019668 KEEP 0 0 0 20 709 CC 0.999863 0.58285 0 - 4 60 120 0 0 9.062608 22 60 742 69 ENST00000441275.1 0.153846 0.58293 FYTTD1 84248 __UNKNOWN__ __UNKNOWN__ 3 197490388 197490388 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr3:197490388T>C ENST00000424384.2 + 3 565 FYTTD1_ENST00000241502.4_Intron|FYTTD1_ENST00000415708.2_Intron|FYTTD1_ENST00000428395.2_Intron Q96QD9 UIF_HUMAN forty-two-three domain containing 1 NA NA mRNA export from nucleus (GO:0006406) nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822) kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) Aggttcgtgcttgtaatccca 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ344094 CCDS3329.1, CCDS43196.1, CCDS43196.2 3q29 2011-03-03 ENSG00000122068 ENSG00000122068 84248 25407 protein-coding gene gene with protein product UAP56-interacting factor NA NA 19836239 Standard NM_032288 NM_001011537 NA Approved DKFZp761B1514, UIF uc003fyi.2 Q96QD9 OTTHUMG00000155453 ENST00000424384.2:c.35-4922T>C chr3.hg19:g.197490388T>C NA A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8 hg19 0.02 8.114268 TGCxTGT COVERED NOVEL FYTTD1-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000340190.7 75 37.750311 KEEP 0 1 36 138 4361 TT 1 1 0 + 10 60 366 0 0 23.918157 200 60 6259 506 ENST00000424384.2 0.047619 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 53233 53233 __UNKNOWN__ 5'UTR SNP C C A rs7658521 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:53233C>A ENST00000509152.2 + 0 36 ZNF595_ENST00000526473.2_5'UTR|ZNF595_ENST00000339368.6_3'UTR Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) CTGGCTCCTGCGAGGGCTTGG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.-150C>A chr4.hg19:g.53233C>A NA hg19 0.02 15.627074 CTGxGAG COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 13 44.945031 KEEP 0 21 637 373 12967 CC 1 1 0 + 31 60 956 0 0 58.907809 509 60 17749 1294 ENST00000509152.2 0.057407 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 60286 60286 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:60286A>G ENST00000509152.2 + 3 411 ZNF595_ENST00000526473.2_Missense_Mutation_p.Y90C|ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TGTCCACTTTATCGCTTATAA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.226+240A>G chr4.hg19:g.60286A>G NA hg19 0.02 5.965278 TTTxTCG COVERED . . . . . . . . . . A 1.022 -0.684557 0.03353 . . ENSG00000197701 ENST00000526473 T 0.01099 5.34 0.835 -1.67 0.08238 . . . . . T 0.01387 0.0045 . . . 0.09310 N 1 . . . . . . T 0.41251 -0.9519 6 0.72032 D 0.01 . 3.155 0.06502 0.3863:0.3926:0.2211:0.0 . . . . C 90 ENSP00000437878:Y90C ENSP00000437878:Y90C Y + 2 0 ZNF595 50286 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.839000 0.04368 -1.886000 0.01116 -0.677000 0.03784 TAT NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 5 6.323565 KEEP 0 3 109 59 1786 AA 1 1 0 + 18 60 622 0 0 45.857267 152 60 4429 350 ENST00000509152.2 0.105882 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 60345 60345 __UNKNOWN__ Intron SNP G G A rs4248885 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:60345G>A ENST00000509152.2 + 3 411 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AGACATAGGAGTATTTGTATT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.226+299G>A chr4.hg19:g.60345G>A NA hg19 0.02 4.715477 GGAxTAT COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 5 4.054167 KEEP 0 4 133 60 2111 GG 1 1 0 + 13 60 373 0 0 23.844476 150 60 5204 340 ENST00000509152.2 0.079755 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68053 68053 __UNKNOWN__ 3'UTR SNP C C G rs4970089 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:68053C>G ENST00000509152.2 + 0 733 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) cactgcaccACGTCAGGATTG 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*290C>G chr4.hg19:g.68053C>G NA hg19 0.02 12.601361 CCAxGTC COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 57 3.073627 KEEP 1 13 461 171 5810 CC 1 1 0 + 27 60 945 0 0 67.088852 296 60 9918 720 ENST00000509152.2 0.083591 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68101 68101 __UNKNOWN__ 3'UTR SNP C C T rs56056469 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:68101C>T ENST00000509152.2 + 0 781 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AGCTGTCATCCGAAGTATACC 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*338C>T chr4.hg19:g.68101C>T NA hg19 0.02 12.658851 ATCxGAA COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 45 17.802837 KEEP 0 13 410 203 6719 CC 1 1 0 + 25 60 770 0 0 48.19212 381 60 12659 900 ENST00000509152.2 0.061576 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68144 68144 __UNKNOWN__ 3'UTR SNP G G A rs61792212 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:68144G>A ENST00000509152.2 + 0 824 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GTCAGAGGAGGCACGTCAGGG 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*381G>A chr4.hg19:g.68144G>A NA hg19 0.02 10.292494 GAGxCAC COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 15 27.965084 KEEP 0 5 157 148 5240 GG 1 1 0 + 35 60 1055 1 0 74.674884 277 60 9718 691 ENST00000509152.2 0.112179 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 509850 509850 __UNKNOWN__ Silent SNP T T C rs11726338 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:509850T>C ENST00000509768.1 + 6 1595 c.723T>C c.(721-723)agT>agC p.S241S PIGG_ENST00000536264.1_Silent_p.S208S|PIGG_ENST00000310340.5_Silent_p.S330S|PIGG_ENST00000504346.1_Silent_p.S241S|PIGG_ENST00000296306.7_Silent_p.S241S|PIGG_ENST00000503111.1_Silent_p.S241S|PIGG_ENST00000453061.2_Silent_p.S330S|PIGG_ENST00000383028.4_Silent_p.S197S Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 330 NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CAAAAGACAGTGTAGGGAGCC 0.463 NA NA C||| 103 0.0205671 0.0363 0.0187 5008 , , NA 20071 0 NA 0.0288 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 C , 122,4284 815.1+/-416.2 3,116,2084 125 122 123 990,990 -6.1 0 4 dbSNP_120 123 232,8368 809.0+/-407.2 7,218,4075 no coding-synonymous,coding-synonymous PIGG NM_001127178.1,NM_017733.3 , 10,334,6159 CC,CT,TT 2.6977,2.769,2.7218 , 330/984,330/976 509850 354,12652 2203 4300 6503 SO:0001819 synonymous_variant CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product NA phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000509768.1:c.723T>C chr4.hg19:g.509850T>C NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 0.02 3.578727 CAGxGTA COVERED NOVEL PIGG-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357497.1 13 21.339979 KEEP 0 0 0 71 2128 TT 1 0.999996 0 + 5 60 167 0 0 10.259568 105 60 3120 258 ENST00000509768.1 0.045455 0.999996 SLBP 7884 __UNKNOWN__ __UNKNOWN__ 4 1696407 1696407 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:1696407C>T ENST00000429429.2 - 6 709 SLBP_ENST00000318386.4_Intron|SLBP_ENST00000489418.1_Intron|SLBP_ENST00000488267.1_Intron Q14493 SLBP_HUMAN stem-loop binding protein NA NA gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(2)|lung(2) 5 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.0055) cgtgagccaccgtgcccagtc 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z71188 CCDS3350.1 4p16.3 2008-02-11 2008-02-11 ENSG00000163950 ENSG00000163950 7884 10904 protein-coding gene gene with protein product histone binding protein 602422 stem-loop (histone) binding protein NA 9049306, 1338771 Standard NM_006527 NM_006527 NA Approved HBP uc003gdi.1 Q14493 OTTHUMG00000089349 ENST00000429429.2:c.579+93G>A chr4.hg19:g.1696407C>T NA B3KRJ5 hg19 0.02 2.839343 CACxGTG COVERED NOVEL SLBP-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357831.1 15 12.645141 KEEP 1 3 94 75 2577 CC 1 0.999998 0 - 6 60 182 1 0 11.035532 101 60 3495 282 ENST00000429429.2 0.056075 0.999998 FAM193A 8603 __UNKNOWN__ __UNKNOWN__ 4 2734132 2734132 __UNKNOWN__ 3'UTR SNP C C T rs10311 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:2734132C>T ENST00000324666.5 + 0 4686 FAM193A_ENST00000382839.3_3'UTR NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A NA NA NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CCTTGCAGAACGAGAAAGTTA 0.458 NA NA C||| 11 0.00219649 0 0.0058 5008 , , NA 18427 0 NA 0.006 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB000459 CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1 4p16.3 2009-09-04 2009-09-04 2009-09-04 8603 16822 protein-coding gene gene with protein product NA chromosome 4 open reading frame 8 C4orf8 NA 9734812 Standard NM_003704 NR_046335 NA Approved RES4-22 uc010ick.3 P78312 ENST00000324666.5:c.*537C>T chr4.hg19:g.2734132C>T NA B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8 hg19 CCDS58875.1 0.02 1.140202 GAAxGAG COVERED NOVEL FAM193A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000360903.1 1 17.754691 KEEP 0 0 0 59 1941 CC 1 0.99994 0 + 6 60 182 1 0 11.298231 91 60 3037 218 ENST00000324666.5 0.061856 0.99994 TMEM128 85013 __UNKNOWN__ __UNKNOWN__ 4 4239512 4239512 __UNKNOWN__ Intron SNP C C T rs370393717 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:4239512C>T ENST00000382753.4 - 4 517 TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Intron|TMEM128_ENST00000254742.2_Intron Q5BJH2 TM128_HUMAN transmembrane protein 128 NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) AGACATTTTTCAAACGAGTTC 0.358 NA NA C||| 2170 0.433307 0.4433 0.5245 5008 , , NA 50009 0.372 NA 0.4563 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 20 19 19 NA NA 4 NA 4239512 2203 4298 6501 SO:0001627 intron_variant BC007729 CCDS3373.1, CCDS75099.1 4p16.3 2008-02-05 ENSG00000132406 ENSG00000132406 85013 28201 protein-coding gene gene with protein product NA NA Standard NM_032927 XM_005248034 NA Approved MGC13159 uc003ghq.1 Q5BJH2 OTTHUMG00000125475 ENST00000382753.4:c.495+41G>A chr4.hg19:g.4239512C>T NA B4DHS7|D3DVS3|Q5H9U6|Q96I94 hg19 0.02 2.999052 TTTxAAA COVERED NOVEL TMEM128-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000246798.2 5 22.23988 KEEP 3 2 66 97 3365 CC 1 1 0 - 6 60 192 0 0 11.317187 134 60 4526 356 ENST00000382753.4 0.042857 1 TMEM128 85013 __UNKNOWN__ __UNKNOWN__ 4 4239513 4239513 __UNKNOWN__ Intron SNP A A C rs374105827 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:4239513A>C ENST00000382753.4 - 4 517 TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Intron|TMEM128_ENST00000254742.2_Intron Q5BJH2 TM128_HUMAN transmembrane protein 128 NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) GACATTTTTCAAACGAGTTCA 0.358 NA NA A||| 2170 0.433307 0.4433 0.5245 5008 , , NA 47823 0.372 NA 0.4563 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 20 19 19 NA NA 4 NA 4239513 2203 4298 6501 SO:0001627 intron_variant BC007729 CCDS3373.1, CCDS75099.1 4p16.3 2008-02-05 ENSG00000132406 ENSG00000132406 85013 28201 protein-coding gene gene with protein product NA NA Standard NM_032927 XM_005248034 NA Approved MGC13159 uc003ghq.1 Q5BJH2 OTTHUMG00000125475 ENST00000382753.4:c.495+40T>G chr4.hg19:g.4239513A>C NA B4DHS7|D3DVS3|Q5H9U6|Q96I94 hg19 0.02 3.388556 TTCxAAC COVERED NOVEL TMEM128-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000246798.2 5 22.027036 KEEP 2 2 68 97 2938 AA 1 1 0 - 5 40 173 0 0 10.324964 135 60 3962 356 ENST00000382753.4 0.035714 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7761296 7761296 __UNKNOWN__ 3'UTR SNP G G A rs184083740 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:7761296G>A ENST00000360265.4 - 0 6623 AFAP1_ENST00000420658.1_3'UTR|AFAP1_ENST00000358461.2_3'UTR|AFAP1-AS1_ENST00000608442.1_RNA Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 TGACAACCAGGAAAAAATGAA 0.378 NA NA G||| 7 0.00139776 8e-04 0.0014 5008 , , NA 22334 0 NA 0.004 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.*4196C>T chr4.hg19:g.7761296G>A NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 1.707087 CAGxAAA COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 3 10.533824 KEEP 0 0 0 35 1201 GG 0.999999 0.976864 0 - 5 60 150 1 0 10.115537 50 60 1697 136 ENST00000360265.4 0.090909 0.976865 DRD5 1816 __UNKNOWN__ __UNKNOWN__ 4 9783971 9783971 __UNKNOWN__ Silent SNP C C T rs113695344 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:9783971C>T ENST00000304374.2 + 1 714 c.318C>T c.(316-318)taC>taT p.Y106Y NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 106 NA activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060) brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246) TGGCCGGTTACTGGCCCTTTG 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 50 48 49 NA NA 4 NA 9783971 2203 4300 6503 SO:0001819 synonymous_variant X58454 CCDS3405.1 4p16.1 2012-08-08 ENSG00000169676 ENSG00000169676 1816 GPCR / Class A : Dopamine receptors 3026 protein-coding gene gene with protein product 126453 DRD1L2 NA 1774076 Standard NM_000798 NA Approved DRD1B uc003gmb.4 P21918 OTTHUMG00000128489 ENST00000304374.2:c.318C>T chr4.hg19:g.9783971C>T NA B2R9S3|Q8NEQ8 hg19 CCDS3405.1 0.02 1.356153 TTAxTGG COVERED NOVEL DRD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250293.1 2 2.247881 KEEP 7 4 133 54 1871 CC 1 0.999919 0 + 4 25 130 0 0 7.750482 89 60 3153 228 ENST00000304374.2 0.043011 0.999919 DRD5 1816 __UNKNOWN__ __UNKNOWN__ 4 9784542 9784542 __UNKNOWN__ Missense_Mutation SNP A A C rs2227851 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:9784542A>C ENST00000304374.2 + 1 1285 c.889A>C c.(889-891)Acc>Ccc p.T297P NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 297 NA T -> P (in dbSNP:rs2227851). activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060) brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246) GGTTCTCAAGACCCTGTCGGT 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 54 51 52 NA NA 4 NA 9784542 2202 4297 6499 SO:0001583 missense X58454 CCDS3405.1 4p16.1 2012-08-08 ENSG00000169676 ENSG00000169676 1816 GPCR / Class A : Dopamine receptors 3026 protein-coding gene gene with protein product 126453 DRD1L2 NA 1774076 Standard NM_000798 NA Approved DRD1B uc003gmb.4 P21918 OTTHUMG00000128489 ENST00000304374.2:c.889A>C chr4.hg19:g.9784542A>C ENSP00000306129:p.Thr297Pro NA B2R9S3|Q8NEQ8 hg19 CCDS3405.1 0.02 -0.210382 AAGxCCC COVERED . . . . . . . . . . a 19.24 3.788678 0.70337 . . ENSG00000169676 ENST00000304374 T 0.40225 1.04 4.73 4.73 0.59995 GPCR, rhodopsin-like superfamily (1); 0.000000 0.85682 D 0.000000 T 0.79879 0.4522 H 0.99668 4.69 0.09310 P 0.999999880898 D 0.89917 1.0 D 0.97110 1.0 D 0.89804 0.3977 9 0.87932 D 0 . 13.5854 0.61928 1.0:0.0:0.0:0.0 rs2227851 297 P21918 DRD5_HUMAN P 297 ENSP00000306129:T297P ENSP00000306129:T297P T + 1 0 DRD5 9393640 1.000000 0.71417 1.000000 0.80357 0.818000 0.46254 8.711000 0.91396 1.990000 0.58119 0.377000 0.23210 ACC NOVEL DRD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250293.1 2 3.00673 KEEP 0 0 0 10 281 AA 0.992708 0.518353 0 + 3 27 100 0 0 7.56565 20 60 546 39 ENST00000304374.2 0.130435 0.522161 DRD5 1816 __UNKNOWN__ __UNKNOWN__ 4 9784550 9784550 __UNKNOWN__ Silent SNP G G A rs2227844 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:9784550G>A ENST00000304374.2 + 1 1293 c.897G>A c.(895-897)tcG>tcA p.S299S NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 299 NA activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060) brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246) AGACCCTGTCGGTGATCATGG 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 55 52 53 NA NA 4 NA 9784550 2203 4297 6500 SO:0001819 synonymous_variant X58454 CCDS3405.1 4p16.1 2012-08-08 ENSG00000169676 ENSG00000169676 1816 GPCR / Class A : Dopamine receptors 3026 protein-coding gene gene with protein product 126453 DRD1L2 NA 1774076 Standard NM_000798 NA Approved DRD1B uc003gmb.4 P21918 OTTHUMG00000128489 ENST00000304374.2:c.897G>A chr4.hg19:g.9784550G>A NA B2R9S3|Q8NEQ8 hg19 CCDS3405.1 0.02 -0.175403 GTCxGTG COVERED NOVEL DRD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250293.1 2 3.008154 KEEP 0 0 0 10 319 GG 0.992708 0.384582 0 + 3 27 91 0 0 6.933833 16 60 513 35 ENST00000304374.2 0.157895 0.387407 SLC2A9 56606 __UNKNOWN__ __UNKNOWN__ 4 9922187 9922187 __UNKNOWN__ Missense_Mutation SNP G G A rs112404957 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:9922187G>A ENST00000264784.3 - 7 877 c.824C>T c.(823-825)aCg>aTg p.T275M SLC2A9_ENST00000506583.1_Missense_Mutation_p.T246M|SLC2A9_ENST00000309065.3_Missense_Mutation_p.T246M NM_020041.2 NP_064425.2 Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 275 NA T -> M (in dbSNP:rs112404957). {ECO:0000269|PubMed:18327257}. glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 Losartan(DB00678)|Probenecid(DB01032) ACCCAAGAACGTTTGGAAGGC 0.582 NA NA G||| 16 0.00319489 8e-04 0.0058 5008 , , NA 21028 0 NA 0.0089 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G MET/THR,MET/THR 13,4393 17.9+/-39.9 0,13,2190 49 44 46 737,824 4 0.6 4 dbSNP_132 46 118,8482 59.8+/-121.6 1,116,4183 yes missense,missense SLC2A9 NM_001001290.1,NM_020041.2 81,81 1,129,6373 AA,AG,GG 1.3721,0.2951,1.0072 probably-damaging,probably-damaging 246/512,275/541 9922187 131,12875 2203 4300 6503 SO:0001583 missense AF210317 CCDS3406.1, CCDS3407.1 4p16.1 2013-05-22 ENSG00000109667 ENSG00000109667 56606 Solute carriers 13446 protein-coding gene gene with protein product urate voltage-driven efflux transporter 1 606142 NA 10860667, 17710649 Standard NM_020041 NA Approved Glut9, GLUTX, URATv1 uc003gmc.3 Q9NRM0 OTTHUMG00000044263 ENST00000264784.3:c.824C>T chr4.hg19:g.9922187G>A ENSP00000264784:p.Thr275Met NA Q0VGC4|Q4W5D1|Q8WV30|Q96P00 hg19 CCDS3407.1 0.02 3.738446 AACxTTT COVERED 11 0.005036630036630037 0 0.0 3 0.008287292817679558 0 0.0 8 0.010554089709762533 G 4.249 0.045167 0.08196 0.002951 0.013721 ENSG00000109667 ENST00000506583;ENST00000264784;ENST00000309065 T;T;T 0.80994 -0.85;-1.44;-0.85 4.9 4.04 0.47022 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.176151 0.51477 D 0.000096 T 0.68430 0.3000 L 0.58810 1.83 0.23735 N 0.996984 B;B 0.31989 0.301;0.35 B;B 0.37239 0.157;0.244 T 0.62407 -0.6861 9 . . . . 4.9006 0.13773 0.0812:0.1494:0.6147:0.1547 . 246;275 Q9NRM0-2;Q9NRM0 .;GTR9_HUMAN M 246;275;246 ENSP00000422209:T246M;ENSP00000264784:T275M;ENSP00000311383:T246M . T - 2 0 SLC2A9 9531285 0.743000 0.28239 0.643000 0.29450 0.152000 0.21847 1.026000 0.30103 1.148000 0.42385 0.650000 0.86243 ACG NOVEL SLC2A9-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000207055.1 5 32.540405 KEEP 0 1 16 114 3899 GG 1 1 0 - 7 60 201 0 0 10.688336 169 60 5630 405 ENST00000264784.3 0.039773 1 PDS5A 23244 __UNKNOWN__ __UNKNOWN__ 4 39922042 39922042 __UNKNOWN__ Intron SNP A A C rs28419175 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:39922042A>C ENST00000303538.8 - 7 1194 PDS5A_ENST00000503396.1_Intron NM_001100399.1 NP_001093869.1 PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) NA NA breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 AAAAACATGGAAAGTTACAAA 0.279 NA NA A||| 459 0.0916534 0.0688 0.0274 5008 , , NA 15553 0.2341 NA 0.0437 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 A , 213,3377 6,201,1588 47 45 46 , 2.1 0.1 4 dbSNP_125 46 311,7785 7,297,3744 no intron,intron PDS5A NM_001100399.1,NM_001100400.1 , 13,498,5332 CC,CA,AA 3.8414,5.9331,4.484 , , 39922042 524,11162 1795 4048 5843 SO:0001627 intron_variant AF294791 CCDS47045.1, CCDS54759.1 4p14 2007-06-20 ENSG00000121892 ENSG00000121892 23244 29088 protein-coding gene gene with protein product 613200 NA 11076961, 15855230 Standard NM_015200 NM_001100399 NA Approved KIAA0648, PIG54, SCC-112 uc003guv.4 Q29RF7 OTTHUMG00000160582 ENST00000303538.8:c.655-23T>G chr4.hg19:g.39922042A>C NA hg19 CCDS47045.1 0.02 -0.385876 TGGxAAG COVERED NOVEL PDS5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361287.1 1 2.406538 KEEP 0 0 0 8 231 AA 0.99257 0.911349 0 - 3 60 108 0 0 7.476738 41 60 1199 71 ENST00000303538.8 0.068182 0.918171 LIMCH1 22998 __UNKNOWN__ __UNKNOWN__ 4 41701248 41701248 __UNKNOWN__ 3'UTR SNP A A G rs76405436|rs386673893 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:41701248A>G ENST00000313860.7 + 0 5352 LIMCH1_ENST00000381753.4_3'UTR|LIMCH1_ENST00000396595.3_3'UTR NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 NA NA actomyosin structure organization (GO:0031032) zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TAAGGATTACATGAATATTGC 0.338 NA NA A||| 883 0.176318 0.2035 0.2522 5008 , , NA 16470 0.1488 NA 0.2008 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB029025 CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1 4p13 2007-06-14 2008-01-09 ENSG00000064042 ENSG00000064042 22998 29191 protein-coding gene gene with protein product NA NA 10470851 Standard NM_014988 XM_005248057 NA Approved DKFZP686A01247, LIMCH1A, LMO7B uc003gvz.4 Q9UPQ0 OTTHUMG00000160575 ENST00000313860.7:c.*2046A>G chr4.hg19:g.41701248A>G NA A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2 hg19 CCDS33977.1 0.02 -0.429732 TACxTGA COVERED NOVEL LIMCH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000361249.2 5 4.210482 KEEP 0 0 0 14 399 AA 0.995343 0.950046 0 + 3 60 108 0 0 7.359616 45 60 1338 83 ENST00000313860.7 0.0625 0.954491 GABRA2 2555 __UNKNOWN__ __UNKNOWN__ 4 46251079 46251079 __UNKNOWN__ 3'UTR SNP A A G rs11734729 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:46251079A>G ENST00000510861.1 - 0 2775 GABRA2_ENST00000514090.1_3'UTR P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 NA NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198) gtgtgtgtgtatgtttgtgCA 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3471.1 4p12 2012-06-22 ENSG00000151834 ENSG00000151834 2555 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4076 protein-coding gene gene with protein product GABA(A) receptor, alpha 2 137140 NA Standard NM_000807 NA Approved uc010igc.2 P47869 OTTHUMG00000044266 ENST00000510861.1:c.*1246T>C chr4.hg19:g.46251079A>G NA A8K0U7|B7Z1H8|Q59G14 hg19 CCDS3471.1 0.02 -0.228003 TGTxTGT COVERED NOVEL GABRA2-005 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360848.2 10 4.767133 KEEP 0 0 0 16 439 AA 0.997832 0.581666 0 - 3 60 103 0 0 7.865 20 60 570 56 ENST00000510861.1 0.130435 0.58293 GABRA2 2555 __UNKNOWN__ __UNKNOWN__ 4 46390951 46390951 __UNKNOWN__ Intron SNP T T C rs201113156 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:46390951T>C ENST00000507460.1 - 2 323 GABRA2_ENST00000356504.1_5'UTR|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000381620.4_Intron|GABRA2_ENST00000515082.1_Intron|GABRA2_ENST00000510861.1_Intron|GABRA2_ENST00000514090.1_Intron P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 NA NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198) ttctttctttttttctttctt 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3471.1 4p12 2012-06-22 ENSG00000151834 ENSG00000151834 2555 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4076 protein-coding gene gene with protein product GABA(A) receptor, alpha 2 137140 NA Standard NM_000807 NA Approved uc010igc.2 P47869 OTTHUMG00000044266 ENST00000507460.1:c.10-218A>G chr4.hg19:g.46390951T>C NA A8K0U7|B7Z1H8|Q59G14 hg19 0.02 -0.280046 TTTxTTT COVERED NOVEL GABRA2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000360846.2 6 2.636962 KEEP 0 1 35 21 599 TT 0.999879 0.739582 0 - 4 60 144 1 0 11.137067 27 60 749 62 ENST00000507460.1 0.129032 0.739671 CLOCK 9575 __UNKNOWN__ __UNKNOWN__ 4 56325365 56325365 __UNKNOWN__ Missense_Mutation SNP G G C rs34897046 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:56325365G>C ENST00000309964.4 - 9 873 c.623C>G c.(622-624)tCt>tGt p.S208C CLOCK_ENST00000381322.1_Missense_Mutation_p.S208C|CLOCK_ENST00000513440.1_Missense_Mutation_p.S208C NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 208 NA S -> C (in dbSNP:rs34897046). cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283) chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TTCATAGGTAGATGGCTCCTT 0.303 NA NA G||| 97 0.019369 0.0038 0.0245 5008 , , NA 18720 0.001 NA 0.0447 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 G CYS/SER 49,4355 49.6+/-84.7 0,49,2153 53 53 53 623 5.9 1 4 dbSNP_126 53 445,8147 133.8+/-191.2 14,417,3865 yes missense CLOCK NM_004898.2 112 14,466,6018 CC,CG,GG 5.1792,1.1126,3.8012 benign 208/847 56325365 494,12502 2202 4296 6498 SO:0001583 missense AF011568 CCDS3500.1 4q12 2012-12-07 2012-12-07 ENSG00000134852 ENSG00000134852 9575 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 2082 protein-coding gene gene with protein product 601851 clock (mouse) homolog, clock homolog (mouse) NA 10198158 Standard NM_004898 NM_001267843 NA Approved KIAA0334, KAT13D, bHLHe8 uc003hba.2 O15516 OTTHUMG00000102141 ENST00000309964.4:c.623C>G chr4.hg19:g.56325365G>C ENSP00000308741:p.Ser208Cys NA A0AV01|A2I2N9|O14516|Q9UIT8 hg19 CCDS3500.1 0.02 -0.421078 GTAxATG COVERED 54 0.024725274725274724 1 0.0020325203252032522 13 0.03591160220994475 0 0.0 40 0.052770448548812667 G 21.2 4.116404 0.77323 0.011126 0.051792 ENSG00000134852 ENST00000309964;ENST00000381322;ENST00000513440 T;T;T 0.04454 3.62;3.62;3.62 5.87 5.87 0.94306 . 0.259104 0.46442 D 0.000289 T 0.01124 0.0037 L 0.32530 0.975 0.48571 D 0.999677 P 0.40250 0.709 B 0.42087 0.375 T 0.21586 -1.0241 10 0.72032 D 0.01 . 20.2147 0.98293 0.0:0.0:1.0:0.0 rs34897046 208 O15516 CLOCK_HUMAN C 208 ENSP00000308741:S208C;ENSP00000370723:S208C;ENSP00000426983:S208C ENSP00000308741:S208C S - 2 0 CLOCK 56020122 1.000000 0.71417 0.998000 0.56505 0.994000 0.84299 9.388000 0.97237 2.785000 0.95823 0.591000 0.81541 TCT NOVEL CLOCK-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361993.2 4 5.417526 KEEP 0 0 0 18 630 GG 0.999859 0.948269 0 - 3 60 106 0 0 7.187807 44 60 1510 85 ENST00000309964.4 0.06383 0.948402 TMPRSS11A 339967 __UNKNOWN__ __UNKNOWN__ 4 68812283 68812283 __UNKNOWN__ Silent SNP C C T rs11930532 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:68812283C>T ENST00000334830.7 - 2 764 c.18G>A c.(16-18)gtG>gtA p.V6V TMPRSS11A_ENST00000508048.1_Silent_p.V5V|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.V6V Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 6 NA cell cycle (GO:0007049) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) serine-type endopeptidase activity (GO:0004252) breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TGCCAAATCCCACTGTCCTGA 0.502 NA NA T||| 3109 0.620807 0.2458 0.6037 5008 , , NA 15666 0.8105 NA 0.7843 False NA ,,, NA NA NA 2504 0.7761 NA NA NA NSCLC(26;2 894 10941 14480 22546) NA 0 T , 1482,2924 678.0+/-403.5 246,990,967 67 61 63 18,18 -0.9 0 4 dbSNP_120 63 7126,1474 279.5+/-294.0 2945,1236,119 no coding-synonymous,coding-synonymous TMPRSS11A NM_001114387.1,NM_182606.3 , 3191,2226,1086 TT,TC,CC 17.1395,33.636,33.8152 , 6/419,6/422 68812283 8608,4398 2203 4300 6503 SO:0001819 synonymous_variant AF071882 CCDS3519.1 4q13.2 2010-04-13 ENSG00000187054 ENSG00000187054 339967 Serine peptidases / Transmembrane 27954 protein-coding gene gene with protein product 611704 NA 15328353 Standard NM_182606 NM_182606 NA Approved ECRG1 uc003hdr.1 Q6ZMR5 OTTHUMG00000129303 ENST00000334830.7:c.18G>A chr4.hg19:g.68812283C>T NA J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8 hg19 CCDS3519.1 0.02 1.394562 TCCxACT COVERED NOVEL TMPRSS11A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251433.3 2 9.327976 KEEP 0 0 0 31 1068 CC 0.999997 0.995684 0 - 5 60 150 0 0 9.670362 62 60 2185 137 ENST00000334830.7 0.074627 0.995687 UBA6-AS1 550112 __UNKNOWN__ __UNKNOWN__ 4 68906084 68906084 __UNKNOWN__ RNA SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:68906084T>C ENST00000500538.2 + 0 1905 UBA6 antisense RNA 1 (head to head) NA NA NA tgcagtggcatgatctcggct 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 4q13.2 2014-01-15 ENSG00000248049 ENSG00000248049 550112 Long non-coding RNAs 49083 non-coding RNA RNA, long non-coding NA NA Standard NR_015439 NA Approved LOC550112 OTTHUMG00000160769 ENST00000500538.2: chr4.hg19:g.68906084T>C NA hg19 0.02 1.681422 GCAxGAT COVERED NOVEL UBA6-AS1-002 KNOWN basic antisense NA antisense OTTHUMT00000362199.2 30 7.690733 KEEP 3 2 67 49 1489 TT 1 0.999895 0 + 4 60 135 2 0 8.538869 75 60 2206 187 ENST00000500538.2 0.050633 0.999895 SMR3A 26952 __UNKNOWN__ __UNKNOWN__ 4 71232742 71232742 __UNKNOWN__ 3'UTR SNP C C G rs3775732 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:71232742C>G ENST00000226460.4 + 0 532 NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A NA NA extracellular region (GO:0005576) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) TGCCACCACCCACAAAAGACA 0.433 NA NA C||| 1474 0.294329 0.1188 0.2594 5008 , , NA 19300 0.4097 NA 0.2654 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 C 599,3807 261.3+/-264.2 34,531,1638 45 44 44 -1.1 0 4 dbSNP_107 44 2426,6174 398.3+/-346.1 328,1770,2202 no utr-3 SMR3A NM_012390.3 362,2301,3840 GG,GC,CC 28.2093,13.5951,23.2585 71232742 3025,9981 2203 4300 6503 SO:0001624 3_prime_UTR_variant D89501 CCDS34000.1 4q13.3 2009-04-17 2008-02-27 2005-02-07 ENSG00000109208 ENSG00000109208 26952 19216 protein-coding gene gene with protein product NA proline rich 5 (salivary), submaxillary gland androgen regulated protein 3 homolog A (mouse) PROL5 NA 9354371, 17512016 Standard NM_012390 NM_012390 NA Approved PBI, PRL5 uc003hfg.1 Q99954 OTTHUMG00000160839 ENST00000226460.4:c.*31C>G chr4.hg19:g.71232742C>G NA hg19 CCDS34000.1 0.02 2.96986 ACCxACA COVERED NOVEL SMR3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362574.1 18 31.902573 KEEP 0 0 0 106 3690 CC 1 1 0 + 5 60 162 0 0 9.340805 128 60 4435 338 ENST00000226460.4 0.037594 1 ANKRD17 26057 __UNKNOWN__ __UNKNOWN__ 4 73942678 73942678 __UNKNOWN__ Silent SNP C C T rs2306058 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:73942678C>T ENST00000358602.4 - 33 7847 c.7731G>A c.(7729-7731)acG>acA p.T2577T ANKRD17_ENST00000330838.6_Silent_p.T2326T|ANKRD17_ENST00000509867.2_Silent_p.T2464T NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2577 NA blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CATTATTTTCCGTGGAGCTGG 0.433 NA NA C||| 884 0.176518 0.0136 0.2205 5008 , , NA 17906 0.2877 NA 0.165 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 C , 171,4235 111.6+/-149.8 4,163,2036 131 129 130 7731,6978 0 1 4 dbSNP_100 130 1415,7185 273.1+/-290.5 95,1225,2980 no coding-synonymous,coding-synonymous ANKRD17 NM_032217.3,NM_198889.1 , 99,1388,5016 TT,TC,CC 16.4535,3.8811,12.1944 , 2577/2604,2326/2353 73942678 1586,11420 2203 4300 6503 SO:0001819 synonymous_variant AB014597 CCDS34003.1, CCDS34004.1, CCDS68721.1 4q21.1-q21.21 2013-01-10 ENSG00000132466 ENSG00000132466 26057 Ankyrin repeat domain containing 23575 protein-coding gene gene with protein product 615929 NA 11165478 Standard NM_032217 NM_032217 NA Approved GTAR, KIAA0697, FLJ22206, NY-BR-16 uc003hgp.3 O75179 OTTHUMG00000160826 ENST00000358602.4:c.7731G>A chr4.hg19:g.73942678C>T NA E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9 hg19 CCDS34004.1 0.02 1.464756 TTCxGTG COVERED NOVEL ANKRD17-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000362475.1 0 10.532932 KEEP 0 0 0 35 1195 CC 0.999999 0.987942 0 - 4 60 124 0 0 7.931569 56 60 1897 141 ENST00000358602.4 0.066667 0.987943 RASSF6 166824 __UNKNOWN__ __UNKNOWN__ 4 74453691 74453691 __UNKNOWN__ Intron SNP T T C rs10011419 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:74453691T>C ENST00000307439.5 - 5 582 RASSF6_ENST00000335049.5_Intron|RASSF6_ENST00000395777.2_Intron|RASSF6_ENST00000342081.3_Intron NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 NA NA apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CAGTTCCATTTATATTGAAGC 0.363 NA NA C||| 1313 0.262181 0.2716 0.4712 5008 , , NA 13542 0.1141 NA 0.2833 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 C , 1283,3121 662.9+/-401.1 184,915,1103 43 44 44 , -3.5 0 4 dbSNP_119 44 2362,6232 689.2+/-404.3 323,1716,2258 no intron,intron RASSF6 NM_177532.3,NM_201431.1 , 507,2631,3361 CC,CT,TT 27.4843,29.1326,28.0428 , , 74453691 3645,9353 2202 4297 6499 SO:0001627 intron_variant AY217664 CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1 4q21.1 2008-02-22 2008-02-22 ENSG00000169435 ENSG00000169435 166824 20796 protein-coding gene gene with protein product 612620 NA Standard NM_177532 NM_177532 NA Approved uc003hhd.2 Q6ZTQ3 OTTHUMG00000130007 ENST00000307439.5:c.288-40A>G chr4.hg19:g.74453691T>C NA Q68DT2|Q6PDA6|Q86WG9|Q86WH0 hg19 CCDS3559.1 0.02 1.683857 ATTxATA COVERED NOVEL RASSF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252278.2 0 12.636576 KEEP 0 0 0 42 1265 TT 1 0.996233 0 - 4 60 136 0 0 8.879377 65 60 1935 156 ENST00000307439.5 0.057971 0.996233 MTHFD2L 441024 __UNKNOWN__ __UNKNOWN__ 4 75168785 75168785 __UNKNOWN__ 3'UTR SNP A A G rs16850883 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:75168785A>G ENST00000325278.6 + 0 2269 MTHFD2L_ENST00000395759.2_3'UTR Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like NA NA folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) TAATACCATTACAACTGTATA 0.313 NA NA G||| 1707 0.340855 0.6604 0.2075 5008 , , NA 17529 0.1835 NA 0.2614 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC065771 CCDS47075.1 4q13.3 2011-08-03 ENSG00000163738 ENSG00000163738 441024 31865 protein-coding gene gene with protein product 614047 NA 21163947 Standard NM_001004346 NM_001144978 NA Approved MGC72244 uc011cbk.2 Q9H903 OTTHUMG00000157135 ENST00000325278.6:c.*1259A>G chr4.hg19:g.75168785A>G NA Q6P079|Q8N560 hg19 0.02 -0.394637 ATTxCAA COVERED NOVEL MTHFD2L-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000347552.2 1 6.616147 KEEP 0 0 0 22 620 AA 0.999879 0.926528 0 + 3 60 98 0 0 6.448414 42 60 1210 92 ENST00000325278.6 0.066667 0.92664 ANTXR2 118429 __UNKNOWN__ __UNKNOWN__ 4 80822484 80822484 __UNKNOWN__ 3'UTR SNP C C T rs4690124|rs531103553 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:80822484C>T ENST00000403729.2 - 0 8091 NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 NA NA reproductive process (GO:0022414) endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|receptor activity (GO:0004872) endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 TGGTGGAGTACATGATAAGAA 0.313 NA NA Juvenile Hyaline Fibromatosis C||| 1814 0.36222 0.1944 0.3573 5008 , , NA 15641 0.6756 NA 0.17 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl. Infantile Systemic Hyalinosis AY040326 CCDS47085.1, CCDS47086.1, CCDS68733.1 4q21.3 2004-01-15 ENSG00000163297 ENSG00000163297 118429 21732 protein-coding gene gene with protein product capillary morphogenesis protein 2 608041 NA 11683410, 12700348 Standard NM_058172 NM_058172 NA Approved CMG2, CMG-2, FLJ31074 uc003hlz.4 P58335 OTTHUMG00000151982 ENST00000403729.2:c.*6099G>A chr4.hg19:g.80822484C>T NA Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7 hg19 CCDS47085.1 0.02 1.572668 GTAxATG COVERED NOVEL ANTXR2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324666.2 3 10.232707 KEEP 0 0 0 34 1202 CC 0.999998 0.986152 0 - 5 60 148 0 0 9.834481 52 60 1812 131 ENST00000403729.2 0.087719 0.986153 NAP1L5 266812 __UNKNOWN__ __UNKNOWN__ 4 89617387 89617387 __UNKNOWN__ 3'UTR SNP A A G rs8605 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:89617387A>G ENST00000323061.5 - 0 1999 HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 NA NA nucleosome assembly (GO:0006334) nucleus (GO:0005634) endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) CTTCAAGTATATATTTTTTCC 0.403 NA NA A||| 1634 0.326278 0.466 0.0965 5008 , , NA 17031 0.3085 NA 0.1362 False NA ,,, NA NA NA 2504 0.5143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NM_153757 CCDS3632.1 4q21-q22 2006-04-12 ENSG00000177432 ENSG00000177432 266812 19968 protein-coding gene gene with protein product 612203 NA 12383514 Standard NM_153757 NM_153757 NA Approved DRLM uc003hrx.3 Q96NT1 OTTHUMG00000130950 ENST00000323061.5:c.*970T>C chr4.hg19:g.89617387A>G NA hg19 CCDS3632.1 0.02 -0.420839 TATxTAT COVERED NOVEL NAP1L5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253551.1 2 7.813285 KEEP 0 0 0 26 707 AA 0.999957 0.948361 0 - 3 60 103 0 0 6.860643 45 60 1289 94 ENST00000323061.5 0.0625 0.948402 ADH7 131 __UNKNOWN__ __UNKNOWN__ 4 100333846 100333846 __UNKNOWN__ 3'UTR SNP C C G rs894369 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:100333846C>G ENST00000437033.2 - 0 2087 ADH7_ENST00000209665.4_3'UTR P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NA NA ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular region (GO:0005576) alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) TGTAATCCAACTTAACTCATA 0.279 NA NA G||| 3605 0.719848 0.8517 0.572 5008 , , NA 14668 0.5962 NA 0.8121 False NA ,,, NA NA NA 2504 0.6789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X76342 CCDS34034.1, CCDS54781.1 4q23-q24 2008-02-05 ENSG00000196344 ENSG00000196344 131 1.1.1.1 Alcohol dehydrogenases 256 protein-coding gene gene with protein product 600086 NA 8195208 Standard NM_000673 NM_000673 NA Approved ADH-4 uc021xqj.1 P40394 OTTHUMG00000159318 ENST00000437033.2:c.*459G>C chr4.hg19:g.100333846C>G NA A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713 hg19 0.02 -0.307047 CAAxTTA COVERED NOVEL ADH7-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000354562.1 2 4.815649 KEEP 0 0 0 16 561 CC 0.997832 0.79851 0 - 3 60 101 0 0 7.126198 31 60 1102 71 ENST00000437033.2 0.088235 0.800245 DDIT4L 115265 __UNKNOWN__ __UNKNOWN__ 4 101108008 101108008 __UNKNOWN__ 3'UTR SNP A A C rs11734827 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:101108008A>C ENST00000273990.2 - 0 1622 RP11-15B17.1_ENST00000515026.1_RNA NM_145244.3 NP_660287.1 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like NA NA negative regulation of signal transduction (GO:0009968) cytoplasm (GO:0005737) breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) TCTCAGAACTAATTTCCTATC 0.343 NA NA A||| 636 0.126997 0.1641 0.1254 5008 , , NA 21204 0.006 NA 0.2346 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013592 CCDS34036.1 4q23 2008-02-05 ENSG00000145358 115265 30555 protein-coding gene gene with protein product regulated in development and DNA damage response 2, similar to Smhs1 protein 607730 NA 12477932 Standard NM_145244 NM_145244 NA Approved REDD2, Rtp801L uc003hvq.3 Q96D03 ENST00000273990.2:c.*826T>G chr4.hg19:g.101108008A>C NA B2R7C3 hg19 CCDS34036.1 0.02 -0.324503 ACTxATT COVERED NOVEL DDIT4L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363423.1 0 5.112834 KEEP 0 0 0 17 487 AA 0.999366 0.835186 0 - 3 60 100 0 0 6.911821 34 60 1003 70 ENST00000273990.2 0.081081 0.835716 MANBA 4126 __UNKNOWN__ __UNKNOWN__ 4 103557219 103557219 __UNKNOWN__ Intron SNP C C T rs2866414 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:103557219C>T ENST00000226578.4 - 15 2114 MANBA_ENST00000505239.1_Intron NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal NA NA cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355) intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764) beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537) cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CAGAGAGGCACTGTCCAATGG 0.493 NA NA T||| 2750 0.549121 0.6626 0.6542 5008 , , NA 20865 0.5159 NA 0.493 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3658.1 4q24 2013-09-20 ENSG00000109323 ENSG00000109323 4126 3.2.1.25 6831 protein-coding gene gene with protein product 609489 NA 7876128 Standard NM_005908 NA Approved uc003hwg.3 O00462 OTTHUMG00000131123 ENST00000226578.4:c.2015-55G>A chr4.hg19:g.103557219C>T NA Q96BC3|Q9NYX9 hg19 CCDS3658.1 0.02 1.654416 GCAxTGT COVERED NOVEL MANBA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253803.2 2 10.233522 KEEP 0 0 0 34 1211 CC 0.999998 0.989541 0 - 4 60 126 0 0 8.161822 55 60 1970 138 ENST00000226578.4 0.067797 0.989542 GSTCD 79807 __UNKNOWN__ __UNKNOWN__ 4 106767335 106767335 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:106767335A>G ENST00000515279.1 + 0 2723 GSTCD_ENST00000394728.3_3'UTR|GSTCD_ENST00000394730.3_3'UTR Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing NA NA extracellular vesicular exosome (GO:0070062) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) cagcactttgagaggccaagg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC032942 CCDS3672.2, CCDS43257.1 4q24 2008-02-05 2006-05-09 ENSG00000138780 ENSG00000138780 79807 25806 protein-coding gene gene with protein product 615912 Glutathione S-transferase, C-terminal domain containing NA 12477932 Standard NM_024751 NM_001031720 NA Approved FLJ13273 uc003hxz.4 Q8NEC7 OTTHUMG00000131211 ENST00000515279.1:c.*601A>G chr4.hg19:g.106767335A>G NA A8K8J0|A8MVD3|H9KV97|Q9H8S3 hg19 CCDS43257.1 0.02 1.982779 TTGxGAG COVERED NOVEL GSTCD-006 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363981.1 17 5.652728 KEEP 0 1 35 31 989 AA 0.999997 0.99623 0 + 4 60 142 0 0 9.699043 57 60 1771 153 ENST00000515279.1 0.065574 0.996233 AIMP1 9255 __UNKNOWN__ __UNKNOWN__ 4 107270133 107270133 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:107270133T>A ENST00000442366.1 + 0 2275 AIMP1_ENST00000394701.4_3'UTR NM_001142415.1 NP_001135887.1 Q12904 AIMP1_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418) aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634) cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049) breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1) 11 ATACACACACTCACACAAAAC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U10117 CCDS3674.1, CCDS47121.1 4q24 2009-05-20 2009-05-20 2009-05-20 ENSG00000164022 ENSG00000164022 9255 10648 protein-coding gene gene with protein product EMAP II, ARS-interacting multifunctional protein 1 603605 small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) SCYE1 NA 7929199, 7545917 Standard NM_004757 NM_004757 NA Approved EMAPII, EMAP-2, p43 uc011cfg.2 Q12904 OTTHUMG00000131217 ENST00000442366.1:c.*1284T>A chr4.hg19:g.107270133T>A NA B3KTR2|B4E1S7|Q6FG28|Q96CQ9 hg19 CCDS3674.1 0.02 3.070103 CACxCAC COVERED NOVEL AIMP1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253961.1 26 15.980482 KEEP 0 1 31 64 1990 TT 1 0.999981 0 + 8 60 239 0 0 15.848644 86 60 2613 232 ENST00000442366.1 0.085106 0.999981 SGMS2 166929 __UNKNOWN__ __UNKNOWN__ 4 108832727 108832727 __UNKNOWN__ 3'UTR SNP T T C rs17564275 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:108832727T>C ENST00000394684.4 + 0 2673 RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 NA NA small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686) Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188) central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) TGTTGTACTTTATGGAAAAAC 0.373 NA NA T||| 554 0.110623 0.1415 0.1254 5008 , , NA 20570 0.0188 NA 0.2187 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041369 CCDS3677.1 4q25 2008-02-05 ENSG00000164023 ENSG00000164023 166929 2.7.8.27 28395 protein-coding gene gene with protein product 611574 NA 14685263 Standard NM_152621 NM_152621 NA Approved MGC26963, SMS2 uc003hyl.4 Q8NHU3 OTTHUMG00000131811 ENST00000394684.4:c.*1018T>C chr4.hg19:g.108832727T>C NA A8K2S9|B2RA61 hg19 CCDS3677.1 0.02 -0.192958 CTTxATG COVERED NOVEL SGMS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254752.1 1 4.510041 KEEP 0 0 0 15 436 TT 0.99649 0.45615 0 + 3 60 105 0 0 8.191981 18 60 535 52 ENST00000394684.4 0.142857 0.457757 ENPEP 2028 __UNKNOWN__ __UNKNOWN__ 4 111483569 111483569 __UNKNOWN__ 3'UTR SNP A A G rs1056355 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:111483569A>G ENST00000265162.5 + 0 4071 ENPEP_ENST00000504100.1_Intron NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) NA NA angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) TGCTCCATGGATTTTAGAGGA 0.353 NA NA A||| 681 0.135982 0.2511 0.0677 5008 , , NA 18276 0.0863 NA 0.0795 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L12468 CCDS3691.1 4q25 2008-02-05 ENSG00000138792 ENSG00000138792 2028 3.4.11.7 CD molecules 3355 protein-coding gene gene with protein product 138297 NA 9268642 Standard NM_001977 NA Approved gp160, CD249 uc003iab.4 Q07075 OTTHUMG00000132546 ENST00000265162.5:c.*855A>G chr4.hg19:g.111483569A>G NA Q504U2 hg19 CCDS3691.1 0.02 -0.315721 TGGxTTT COVERED NOVEL ENPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255747.2 4 6.016231 KEEP 0 0 0 20 619 AA 0.999863 0.818352 0 + 3 60 97 0 0 6.651618 33 60 1006 75 ENST00000265162.5 0.083333 0.818465 C4orf21 0 __UNKNOWN__ __UNKNOWN__ 4 113539969 113539969 __UNKNOWN__ Missense_Mutation SNP T T C rs7696816 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:113539969T>C ENST00000505019.1 - 6 1354 c.1229A>G c.(1228-1230)aAt>aGt p.N410S C4orf21_ENST00000309071.5_Missense_Mutation_p.N410S|C4orf21_ENST00000445203.2_Missense_Mutation_p.N379S NM_018392.4 NP_060862.3 Q86YA3 ZGRF1_HUMAN 410 NA N -> S (in dbSNP:rs7696816). integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ACTGCTTTCATTGAATGAAGG 0.333 NA NA T||| 2092 0.417732 0.3003 0.5086 5008 , , NA 20068 0.4117 NA 0.4284 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 T SER/ASN 1433,2973 455.5+/-351.0 234,965,1004 89 89 89 1229 -0.2 0 4 dbSNP_116 89 3647,4953 521.4+/-379.9 755,2137,1408 yes missense C4orf21 NM_018392.4 46 989,3102,2412 CC,CT,TT 42.407,32.5238,39.0589 benign 410/2105 113539969 5080,7926 2203 4300 6503 SO:0001583 missense NA NA NA NA NA ENST00000505019.1:c.1229A>G chr4.hg19:g.113539969T>C ENSP00000424737:p.Asn410Ser NA B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4 hg19 0.02 -0.385907 TCAxTGA COVERED 905 0.4143772893772894 153 0.31097560975609756 181 0.5 245 0.42832167832167833 326 0.43007915567282323 T 0.008 -1.932518 0.00488 0.325238 0.42407 ENSG00000138658 ENST00000505019;ENST00000309071;ENST00000445203 T;T;T 0.81163 -1.46;2.03;1.62 5.05 -0.147 0.13428 . 1.081160 0.07099 N 0.840098 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.30592 -0.9973 9 0.02654 T 1 1.4592 1.4742 0.02422 0.1541:0.4062:0.2096:0.2301 rs7696816;rs52796218;rs56876657;rs7696816 410;410 Q86YA3;G5EA02 CD021_HUMAN;. S 410;410;379 ENSP00000424737:N410S;ENSP00000309095:N410S;ENSP00000390505:N379S ENSP00000309095:N410S N - 2 0 C4orf21 113759418 0.000000 0.05858 0.011000 0.14972 0.022000 0.10575 -1.654000 0.01984 0.149000 0.19098 -1.022000 0.02435 AAT NOVEL C4orf21-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000256413.1 4 5.115555 KEEP 0 0 0 17 536 TT 0.999366 0.917589 0 - 3 60 103 0 0 6.977173 41 60 1235 81 ENST00000505019.1 0.068182 0.918171 PRDM5 11107 __UNKNOWN__ __UNKNOWN__ 4 121613524 121613524 __UNKNOWN__ 3'UTR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:121613524G>C ENST00000264808.3 - 0 4875 NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 NA NA histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 cacacacacagacacacacac 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF272897 CCDS3716.1, CCDS75187.1, CCDS75188.1 4q25-q26 2013-01-08 ENSG00000138738 ENSG00000138738 11107 Zinc fingers, C2H2-type 9349 protein-coding gene gene with protein product 614161 NA Standard XM_005262706 NA Approved PFM2 uc003idn.3 Q9NQX1 OTTHUMG00000132970 ENST00000264808.3:c.*2742C>G chr4.hg19:g.121613524G>C NA Q0VAI9|Q0VAJ0|Q6NXQ7 hg19 CCDS3716.1 0.02 1.76889 ACAxACA COVERED NOVEL PRDM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256528.2 21 10.834822 KEEP 0 0 0 36 1245 GG 1 0.999559 0 - 4 60 145 0 0 9.652691 70 60 2421 159 ENST00000264808.3 0.054054 0.999559 TRPC3 7222 __UNKNOWN__ __UNKNOWN__ 4 122820703 122820703 __UNKNOWN__ Intron SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:122820703A>C ENST00000379645.3 - 10 2621 TRPC3_ENST00000264811.5_Intron|TRPC3_ENST00000513531.1_Intron NM_001130698.1 NP_001124170.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 NA NA axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CACACACACAAACACACACGC 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y13758 CCDS3725.1, CCDS47130.1 4q27 2011-12-14 ENSG00000138741 ENSG00000138741 7222 Voltage-gated ion channels / Transient receptor potential cation channels 12335 protein-coding gene gene with protein product 602345 NA 8646775, 16382100 Standard NM_003305 NM_003305 NA Approved uc003ieg.2 Q13507 OTTHUMG00000133069 ENST00000379645.3:c.2547+63T>G chr4.hg19:g.122820703A>C NA A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5 hg19 CCDS47130.1 0.02 1.525968 ACAxACA COVERED NOVEL TRPC3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000364252.1 29 12.939477 KEEP 0 0 0 43 1366 AA 1 0.999804 0 - 5 60 168 0 2 11.242234 69 60 2096 180 ENST00000379645.3 0.067568 0.999804 INTU 27152 __UNKNOWN__ __UNKNOWN__ 4 128584580 128584580 __UNKNOWN__ Silent SNP G G A rs4833380 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:128584580G>A ENST00000335251.6 + 4 916 c.813G>A c.(811-813)acG>acA p.T271T INTU_ENST00000296461.5_Silent_p.T271T NM_015693.3 NP_056508.2 Q9ULD6 INTU_HUMAN inturned planar cell polarity protein 271 NA cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513) cytoplasm (GO:0005737) breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 AAAGGGAGACGTCCCATCCAA 0.403 NA NA A||| 3255 0.64996 0.7474 0.6023 5008 , , NA 18606 0.5526 NA 0.5646 False NA ,,, NA NA NA 2504 0.7403 NA NA NA NA 0 A 3175,1231 424.7+/-340.5 1130,915,158 117 114 115 813 -7.8 0 4 dbSNP_111 115 4769,3831 540.3+/-383.8 1329,2111,860 no coding-synonymous INTU NM_015693.3 2459,3026,1018 AA,AG,GG 44.5465,27.9392,38.9205 271/943 128584580 7944,5062 2203 4300 6503 SO:0001819 synonymous_variant BC051698 CCDS34061.1 4q28.2 2013-03-05 2013-03-05 2006-10-24 ENSG00000164066 ENSG00000164066 27152 29239 protein-coding gene gene with protein product 610621 PDZ domain containing 6, inturned planar cell polarity effector homolog (Drosophila) PDZK6, PDZD6 NA 10574462, 21761479 Standard XM_371707 NM_015693 NA Approved KIAA1284 uc003ifk.2 Q9ULD6 OTTHUMG00000161202 ENST00000335251.6:c.813G>A chr4.hg19:g.128584580G>A NA A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55 hg19 CCDS34061.1 0.02 -0.280678 GACxTCC COVERED NOVEL INTU-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364147.2 1 2.70823 KEEP 0 0 0 9 294 GG 0.99254 0.734154 0 + 15 60 448 0 0 42.347734 17 60 547 53 ENST00000335251.6 0.46875 0.739671 NAA15 80155 __UNKNOWN__ __UNKNOWN__ 4 140310520 140310520 __UNKNOWN__ 3'UTR SNP T T C rs3828506 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:140310520T>C ENST00000296543.5 + 0 4206 NAA15_ENST00000398947.1_3'UTR|NAA15_ENST00000515576.1_Intron NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit NA NA angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022) NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TTCTGTGAAATACACAGGTGG 0.398 NA NA T||| 1399 0.279353 0.3381 0.134 5008 , , NA 16769 0.2381 NA 0.1958 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY039242 CCDS43270.1 4q31.1 2010-01-14 2010-01-14 2010-01-14 ENSG00000164134 ENSG00000164134 80155 N(alpha)-acetyltransferase subunits 30782 protein-coding gene gene with protein product 608000 NMDA receptor regulated 1 NARG1 NA 12140756, 11478804, 19660095 Standard NM_057175 XM_005263236 NA Approved TBDN100, NATH, FLJ13340 uc003ihu.1 Q9BXJ9 OTTHUMG00000137363 ENST00000296543.5:c.*1282T>C chr4.hg19:g.140310520T>C NA D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6 hg19 CCDS43270.1 0.02 -0.438477 AAAxACA COVERED NOVEL NAA15-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000267839.2 4 3.911191 KEEP 0 0 0 13 387 TT 0.994391 0.954475 0 + 3 60 100 0 0 6.50626 47 60 1377 80 ENST00000296543.5 0.06 0.959859 USP38 84640 __UNKNOWN__ __UNKNOWN__ 4 144125573 144125573 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:144125573T>C ENST00000307017.4 + 5 1715 USP38_ENST00000510377.1_Intron NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) tggacagtcttgctctgttgc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF211481 CCDS3758.1 4q31.1 2008-02-05 2005-08-08 ENSG00000170185 ENSG00000170185 84640 Ubiquitin-specific peptidases 20067 protein-coding gene gene with protein product NA ubiquitin specific protease 38 NA 12838346 Standard NM_032557 NM_032557 NA Approved KIAA1891, HP43.8KD uc003ijb.3 Q8NB14 OTTHUMG00000161420 ENST00000307017.4:c.1209+854T>C chr4.hg19:g.144125573T>C NA B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55 hg19 CCDS3758.1 0.02 1.643062 TCTxGCT COVERED NOVEL USP38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364869.1 12 13.671895 KEEP 0 1 30 56 1700 TT 1 0.999622 0 + 4 60 131 1 0 8.186214 73 70 2232 212 ENST00000307017.4 0.051948 0.999622 GYPB 2994 __UNKNOWN__ __UNKNOWN__ 4 144940333 144940333 __UNKNOWN__ Intron SNP G G C rs41279321 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:144940333G>C ENST00000502664.1 - 1 89 GYPB_ENST00000283126.7_Intron|GYPB_ENST00000513128.1_Intron|GYPB_ENST00000429670.2_Intron|GYPB_ENST00000510196.2_Intron|RP11-673E1.4_ENST00000506982.1_RNA NM_002100.4 NP_002091 P06028 GLPB_HUMAN glycophorin B (MNS blood group) NA NA integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) breast(1)|large_intestine(2)|skin(1) 4 all_hematologic(180;0.158) AACTGAAATAGGGTAGTTCAT 0.318 NA NA G||| 201 0.0401358 0.0038 0.0562 5008 , , NA 17104 0.001 NA 0.1183 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 88 78 81 NA NA 4 NA 144940333 690 1591 2281 SO:0001627 intron_variant CCDS54809.1 4q31.21 2014-09-17 2006-02-23 ENSG00000250361 2994 CD molecules, Blood group antigens 4703 protein-coding gene gene with protein product 111740 glycophorin B (includes Ss blood group), glycophorin B (Ss blood group) MNS NA Standard NM_002100 NM_002100 NA Approved GPB, SS, CD235b P06028 ENST00000502664.1:c.37+70C>G chr4.hg19:g.144940333G>C NA B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7 hg19 CCDS54809.1 0.02 -0.315829 ATAxGGT COVERED NOVEL GYPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364791.1 2 5.718804 KEEP 5 0 0 19 686 GG 0.999366 0.817946 0 - 4 49 135 0 0 9.956041 32 51 1147 89 ENST00000502664.1 0.111111 0.818465 MND1 84057 __UNKNOWN__ __UNKNOWN__ 4 154336174 154336174 __UNKNOWN__ 3'UTR SNP A A T rs11099880 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:154336174A>T ENST00000240488.3 + 0 872 NM_001253861.1|NM_032117.3 NP_001240790.1|NP_115493.1 meiotic nuclear divisions 1 homolog (S. cerevisiae) NA NA large_intestine(2)|lung(1) 3 all_hematologic(180;0.093) TTTTGGTAGAACAAAAGCAGG 0.348 NA NA T||| 1622 0.323882 0.4803 0.2767 5008 , , NA 16404 0.3065 NA 0.17 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY028916 CCDS3782.1, CCDS75202.1 4q31.3 2008-02-05 ENSG00000121211 ENSG00000121211 84057 24839 protein-coding gene gene with protein product 611422 NA 11940665 Standard NM_032117 NM_032117 NA Approved GAJ uc003ink.2 Q9BWT6 OTTHUMG00000161523 ENST00000240488.3:c.*165A>T chr4.hg19:g.154336174A>T NA hg19 CCDS3782.1 0.02 1.464876 AGAxCAA COVERED NOVEL MND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365194.2 3 9.928692 KEEP 0 0 0 33 1020 AA 0.999998 0.987941 0 + 4 60 124 0 0 7.931988 56 60 1687 121 ENST00000240488.3 0.066667 0.987943 RNF175 285533 __UNKNOWN__ __UNKNOWN__ 4 154633734 154633734 __UNKNOWN__ Intron SNP G G C rs2289318 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:154633734G>C ENST00000347063.4 - 8 1137 NM_173662.2 NP_775933 Q8N4F7 RN175_HUMAN ring finger protein 175 NA NA integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) GAAAGCTGAAGCATCTTGTTA 0.443 NA NA G||| 1067 0.213059 0.2315 0.2118 5008 , , NA 20126 0.2381 NA 0.1829 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 G 806,3118 84,638,1240 58 55 56 3.8 0.3 4 dbSNP_100 56 1624,6694 150,1324,2685 no intron RNF175 NM_173662.2 234,1962,3925 CC,CG,GG 19.5239,20.5403,19.8497 154633734 2430,9812 1962 4159 6121 SO:0001627 intron_variant BC034385 CCDS47149.1 4q31.3 2008-02-05 ENSG00000145428 ENSG00000145428 285533 RING-type (C3HC4) zinc fingers 27735 protein-coding gene gene with protein product NA NA Standard NM_173662 NM_173662 NA Approved FLJ34190 uc003int.3 Q8N4F7 OTTHUMG00000161557 ENST00000347063.4:c.765-6C>G chr4.hg19:g.154633734G>C NA C9JL66|Q8NB61 hg19 CCDS47149.1 0.02 1.898219 GAAxCAT COVERED NOVEL RNF175-001 KNOWN non_canonical_TEC|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365286.1 3 24.678688 KEEP 0 0 0 82 2904 GG 1 0.999835 0 - 4 60 142 0 0 9.065504 83 60 2934 245 ENST00000347063.4 0.045977 0.999835 GUCY1A3 2982 __UNKNOWN__ __UNKNOWN__ 4 156617994 156617994 __UNKNOWN__ 5'UTR SNP G G A rs2306557 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:156617994G>A ENST00000296518.7 + 0 184 GUCY1A3_ENST00000511108.1_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000455639.2_5'UTR|GUCY1A3_ENST00000513574.1_5'UTR|GUCY1A3_ENST00000506455.1_5'UTR|GUCY1A3_ENST00000511507.1_5'UTR|GUCY1A3_ENST00000393832.3_Intron Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 NA NA blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565) guanylate cyclase complex, soluble (GO:0008074) GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GGAGGAGATCGCAGCAGGGTA 0.468 NA NA G||| 1114 0.222444 0.1218 0.2507 5008 , , NA 17453 0.2331 NA 0.2913 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 G ,,,,,, 701,3705 291.8+/-281.7 61,579,1563 112 92 99 ,,,,,, -8.4 0 4 dbSNP_100 99 2292,6308 387.0+/-342.0 317,1658,2325 no utr-5,utr-5,utr-5,utr-5,intron,utr-5,utr-5 GUCY1A3 NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130686.1,NM_001130687.1 ,,,,,, 378,2237,3888 AA,AG,GG 26.6512,15.9101,23.0125 ,,,,,, ,,,,,, 156617994 2993,10013 2203 4300 6503 SO:0001623 5_prime_UTR_variant CCDS34085.1, CCDS54812.1 4q31.3-q33 2008-03-18 ENSG00000164116 2982 4.6.1.2 4685 protein-coding gene gene with protein product 139396 GUC1A3 NA 1352257 Standard NM_001130687 NA Approved GC-SA3 uc003iow.3 Q02108 ENST00000296518.7:c.-26G>A chr4.hg19:g.156617994G>A NA D3DP19|D6RDW3|O43843|Q8TAH3 hg19 CCDS34085.1 0.02 3.026269 ATCxCAG COVERED NOVEL GUCY1A3-010 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365786.2 3 17.890845 KEEP 0 1 30 70 2378 GG 1 0.999992 0 + 6 60 182 0 0 11.036801 101 60 3429 264 ENST00000296518.7 0.056075 0.999992 GUCY1B3 2983 __UNKNOWN__ __UNKNOWN__ 4 156693845 156693845 __UNKNOWN__ 5'UTR SNP A A T rs28697968 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:156693845A>T ENST00000505764.1 + 0 284 GUCY1B3_ENST00000503520.1_Intron|GUCY1B3_ENST00000502959.1_Intron|GUCY1B3_ENST00000513437.1_Intron|GUCY1B3_ENST00000507146.1_Intron|GUCY1B3_ENST00000505154.1_Intron|GUCY1B3_ENST00000264424.8_Intron Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 NA NA blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263) cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231) GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872) NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) gtgctgggataacaggcatga 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF020340 CCDS47154.1, CCDS75203.1 4q31.3-q33 2008-03-18 ENSG00000061918 ENSG00000061918 2983 4.6.1.2 4687 protein-coding gene gene with protein product 139397 GUC1B3 NA 1352257 Standard XM_005262959 NA Approved GC-SB3, GC-S-beta-1 uc003ipc.3 Q02153 OTTHUMG00000161698 ENST00000505764.1:c.-44A>T chr4.hg19:g.156693845A>T NA B7Z426|Q86WY5 hg19 0.02 4.559692 GATxACA COVERED NOVEL GUCY1B3-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000365767.2 20 4.515552 KEEP 0 7 183 80 2274 AA 1 1 0 + 9 60 227 0 0 12.566923 136 60 3925 322 ENST00000505764.1 0.062069 1 FBXO8 26269 __UNKNOWN__ __UNKNOWN__ 4 175158212 175158212 __UNKNOWN__ 3'UTR SNP G G T rs1050092 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:175158212G>T ENST00000393674.2 - 0 2173 FBXO8_ENST00000503293.1_3'UTR NM_012180.2 NP_036312.2 Q9NRD0 FBX8_HUMAN F-box protein 8 NA NA actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511) cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) ARF guanyl-nucleotide exchange factor activity (GO:0005086) breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) ACATTACATGGTATTTGTATA 0.259 NA NA G||| 535 0.106829 0.087 0.0216 5008 , , NA 14193 0.126 NA 0.0547 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF174596 CCDS3820.1 4q34.1 2008-02-05 2004-06-15 ENSG00000164117 26269 F-boxes / other 13587 protein-coding gene gene with protein product 605649 F-box only protein 8 NA 10531035, 10531037 Standard NM_012180 NM_012180 NA Approved FBX8, FBS uc003itp.3 Q9NRD0 ENST00000393674.2:c.*351C>A chr4.hg19:g.175158212G>T NA B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4 hg19 CCDS3820.1 0.02 1.841626 ATGxTAT COVERED NOVEL FBXO8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362085.2 3 6.62156 KEEP 0 0 0 22 771 GG 0.999879 0.963657 0 - 5 60 161 0 0 11.384875 46 60 1592 99 ENST00000393674.2 0.098039 0.963774 HPGD 3248 __UNKNOWN__ __UNKNOWN__ 4 175443156 175443156 __UNKNOWN__ Silent SNP C C T rs1050145 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:175443156C>T ENST00000504433.1 - 2 203 c.156G>A c.(154-156)caG>caA p.Q52Q HPGD_ENST00000422112.2_Silent_p.Q52Q|HPGD_ENST00000296522.6_Silent_p.Q52Q|HPGD_ENST00000541923.1_5'UTR|HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000542498.1_Silent_p.Q52Q|HPGD_ENST00000296521.7_Silent_p.Q52Q P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 52 NA arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179) basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803) p.Q52Q(1) kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) GAGGTTCAAACTGCTCATCCA 0.522 NA NA T||| 1699 0.339257 0.261 0.3213 5008 , , NA 18302 0.4554 NA 0.4066 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) T , 1196,3210 710.0+/-407.8 166,864,1173 171 165 167 156,156 1.4 1 4 dbSNP_86 167 3690,4910 620.8+/-397.1 793,2104,1403 no coding-synonymous,coding-synonymous HPGD NM_000860.4,NM_001145816.1 , 959,2968,2576 TT,TC,CC 42.907,27.1448,37.5673 , 52/267,52/179 175443156 4886,8120 2203 4300 6503 SO:0001819 synonymous_variant CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1 4q34-q35 2011-09-14 ENSG00000164120 ENSG00000164120 3248 1.1.1.141 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 5154 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 36C, member 1 601688 NA 19027726 Standard NM_000860 NA Approved SDR36C1 uc003itu.3 P15428 OTTHUMG00000160772 ENST00000504433.1:c.156G>A chr4.hg19:g.175443156C>T NA B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998 hg19 0.02 -0.421068 AAAxTGC COVERED NOVEL HPGD-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362234.1 3 10.834803 KEEP 0 0 0 36 1265 CC 0.999999 0.948401 0 - 4 60 127 0 0 8.67124 43 60 1469 119 ENST00000504433.1 0.085106 0.948402 HPGD 3248 __UNKNOWN__ __UNKNOWN__ 4 175444006 175444006 __UNKNOWN__ 5'UTR SNP C C G rs1346271 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:175444006C>G ENST00000296522.6 - 0 43 HPGD_ENST00000510901.1_5'UTR NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1 NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) NA NA arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179) basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803) kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) TCCTGCACTCCCTCCCGGCCC 0.478 NA NA C||| 1395 0.278554 0.1135 0.2767 5008 , , NA 15442 0.4206 NA 0.3767 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1 4q34-q35 2011-09-14 ENSG00000164120 ENSG00000164120 3248 1.1.1.141 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 5154 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 36C, member 1 601688 NA 19027726 Standard NM_000860 NA Approved SDR36C1 uc003itu.3 P15428 OTTHUMG00000160772 ENST00000296522.6:c.-404G>C chr4.hg19:g.175444006C>G NA B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998 hg19 CCDS3821.1 0.02 -0.394768 CTCxCTC COVERED NOVEL HPGD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362228.3 2 8.126146 KEEP 0 0 0 27 950 CC 0.999988 0.926628 0 - 4 60 142 0 0 10.247786 41 60 1429 104 ENST00000296522.6 0.088889 0.92664 CCDC110 256309 __UNKNOWN__ __UNKNOWN__ 4 186380243 186380243 __UNKNOWN__ Missense_Mutation SNP A A C rs59319722 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:186380243A>C ENST00000510617.1 - 6 1558 c.1498T>G c.(1498-1500)Tac>Gac p.Y500D CCDC110_ENST00000307588.3_Missense_Mutation_p.Y500D|CCDC110_ENST00000393540.3_Missense_Mutation_p.Y463D Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 500 NA Y -> D (in dbSNP:rs59319722). nucleus (GO:0005634) NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TCTTTGCTGTATTCTTCTGTT 0.274 NA NA C||| 1927 0.384784 0.2784 0.3631 5008 , , NA 16317 0.2857 NA 0.5378 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 C ASP/TYR,ASP/TYR 1438,2954 230,978,988 27 28 28 1387,1498 4.2 0.1 4 dbSNP_129 28 4818,3740 1364,2090,825 yes missense,missense CCDC110 NM_001145411.1,NM_152775.3 160,160 1594,3068,1813 CC,CA,AA 43.7018,32.7413,48.3089 benign,benign 463/797,500/834 186380243 6256,6694 2196 4279 6475 SO:0001583 missense AB080722 CCDS3843.1, CCDS47170.1 4q35.1 2010-12-24 ENSG00000168491 ENSG00000168491 256309 28504 protein-coding gene gene with protein product cancer/testis antigen 52 609488 NA 18160854 Standard NM_152775 NM_152775 NA Approved KM-HN-1, MGC33607, CT52 uc003ixu.4 Q8TBZ0 OTTHUMG00000160415 ENST00000510617.1:c.1498T>G chr4.hg19:g.186380243A>C ENSP00000427246:p.Tyr500Asp NA Q86YI9|Q8N7W0 hg19 0.02 -0.429604 TGTxTTC COVERED 856 0.39194139194139194 148 0.3008130081300813 147 0.40607734806629836 161 0.28146853146853146 400 0.5277044854881267 C 0 -2.653368 0.00109 0.327413 0.562982 ENSG00000168491 ENST00000393540;ENST00000307588;ENST00000510617 T;T;T 0.04406 3.63;3.65;3.65 5.96 4.25 0.50352 . 0.427611 0.22036 N 0.065525 T 0.00012 0.0000 N 0.00368 -1.59 0.58432 P 1.0000000000287557E-6 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.39057 -0.9632 9 0.02654 T 1 -2.8884 7.4078 0.27001 0.1356:0.7252:0.0:0.1391 rs59319722;rs62345630 500;463;500 B4DZA2;Q8TBZ0-2;Q8TBZ0 .;.;CC110_HUMAN D 463;500;500 ENSP00000377172:Y463D;ENSP00000306776:Y500D;ENSP00000427246:Y500D ENSP00000306776:Y500D Y - 1 0 CCDC110 186617237 0.987000 0.35691 0.075000 0.20258 0.106000 0.19336 2.024000 0.41049 0.446000 0.26666 -0.121000 0.15023 TAC NOVEL CCDC110-003 NOVEL not_organism_supported|basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000360521.2 3 4.812413 KEEP 0 0 0 16 463 AA 0.997832 0.952421 0 - 3 60 109 0 0 7.432266 46 60 1293 78 ENST00000510617.1 0.061224 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190426479 190426479 __UNKNOWN__ IGR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:190426479T>A NA NA HSP90AA4P (30135 upstream) : RP11-462G22.1 (154279 downstream) NA NA NA acacacacactcacatacaca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.190426479T>A NA hg19 0.02 2.705503 CACxCAC COVERED NOVEL 0 51 2.875043 KEEP 0 5 146 61 1901 TT 1 0.999999 0 10 60 295 2 2 20.119789 91 60 2844 266 0.09901 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190426484 190426484 __UNKNOWN__ IGR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:190426484T>C NA NA HSP90AA4P (30140 upstream) : RP11-462G22.1 (154274 downstream) NA NA NA cacactcacatacacatacac 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr4.hg19:g.190426484T>C NA hg19 0.02 3.976696 ACAxACA COVERED NOVEL 0 44 2.329009 KEEP 0 4 144 58 1673 TT 1 0.999996 0 8 60 284 2 1 20.300421 87 60 2551 251 0.084211 0.999996 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878577 190878577 __UNKNOWN__ Missense_Mutation SNP A A G rs200267221 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:190878577A>G ENST00000226798.4 + 6 679 c.457A>G c.(457-459)Aat>Gat p.N153D FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 153 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GTTGGCCTCAAATAGCTGCTT 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 14 18 17 NA NA 4 NA 190878577 2154 4261 6415 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.457A>G chr4.hg19:g.190878577A>G ENSP00000226798:p.Asn153Asp NA A8K775 hg19 CCDS34121.1 0.02 12.053073 TCAxATA COVERED . . . . . . . . . . . 16.34 3.096595 0.56075 . . ENSG00000109536 ENST00000226798;ENST00000524583;ENST00000531991 T;T 0.50548 1.75;0.74 4.19 2.99 0.34606 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.62950 0.2470 M 0.88105 2.93 0.58432 D 0.999994 P 0.35033 0.481 P 0.49085 0.6 T 0.60182 -0.7313 10 0.38643 T 0.18 -7.9248 8.2154 0.31507 0.9006:0.0:0.0994:0.0 . 153 Q14331 FRG1_HUMAN D 153;25;90 ENSP00000226798:N153D;ENSP00000435943:N90D ENSP00000226798:N153D N + 1 0 FRG1 191115571 1.000000 0.71417 1.000000 0.80357 0.430000 0.31655 9.035000 0.93752 0.593000 0.29745 -0.580000 0.04137 AAT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 32 54.19516 KEEP 66 1 34 192 6013 AA 1 1 0 + 11 49 381 0 0 23.431042 257 60 7889 686 ENST00000226798.4 0.041045 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878664 190878664 __UNKNOWN__ Intron SNP A A G rs80135208 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:190878664A>G ENST00000226798.4 + 6 759 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) CAAGGTAATGATGACATTTTA 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 47 42 44 NA NA 4 NA 190878664 2158 4234 6392 SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.537+7A>G chr4.hg19:g.190878664A>G NA A8K775 hg19 CCDS34121.1 0.02 20.744565 ATGxTGA COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 55 78.398124 KEEP 17 3 110 299 9143 AA 1 1 0 + 13 59 468 0 0 27.510832 432 60 13148 1211 ENST00000226798.4 0.029213 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878693 190878693 __UNKNOWN__ Intron SNP C C A rs376321648 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr4:190878693C>A ENST00000226798.4 + 6 759 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ACTGCATTCACACATGCGATG 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 17 14 15 NA NA 4 NA 190878693 2115 4182 6297 SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.537+36C>A chr4.hg19:g.190878693C>A NA A8K775 hg19 CCDS34121.1 0.02 9.578598 TCAxACA COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 24 57.554714 KEEP 16 5 120 234 8240 CC 1 1 0 + 14 60 399 0 0 21.593081 310 60 10673 832 ENST00000226798.4 0.04321 1 TPPP 11076 __UNKNOWN__ __UNKNOWN__ 5 663151 663151 __UNKNOWN__ 3'UTR SNP G G T rs111489885 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:663151G>T ENST00000360578.5 - 0 2847 CEP72_ENST00000514507.1_Intron NM_007030.2 NP_008961.1 O94811 TPPP_HUMAN tubulin polymerization promoting protein NA NA microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) microtubule binding (GO:0008017)|tubulin binding (GO:0015631) kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) GATCGGGTGAGTCCGATGACT 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB017016 CCDS3856.1 5p15.33 2008-02-05 ENSG00000171368 ENSG00000171368 11076 24164 protein-coding gene gene with protein product brain specific protein p25 alpha 608773 NA 10083737, 12093283, 15590652, 17105200 Standard NM_007030 NM_007030 NA Approved p25alpha, TPPP1, p25, TPPP/p25 uc003jbh.4 O94811 OTTHUMG00000131011 ENST00000360578.5:c.*2066C>A chr5.hg19:g.663151G>T NA hg19 CCDS3856.1 0.02 5.303032 TGAxTCC COVERED NOVEL TPPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253645.3 3 4.988971 KEEP 4 8 234 99 3401 GG 1 1 0 - 13 60 406 0 0 28.325588 120 60 4051 387 ENST00000360578.5 0.097744 1 BRD9 65980 __UNKNOWN__ __UNKNOWN__ 5 878460 878460 __UNKNOWN__ Intron SNP C C T rs112921031 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:878460C>T ENST00000467963.1 - 11 1438 BRD9_ENST00000323510.4_Intron|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000388890.4_Intron|BRD9_ENST00000435709.2_Intron NM_023924.4 NP_076413.3 Q9H8M2 BRD9_HUMAN bromodomain containing 9 NA NA chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TCCCCGGGGCCGACACTTGCC 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 100 85 90 NA NA 5 NA 878460 2203 4300 6503 SO:0001627 intron_variant AK023503 CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2 5p15.33 2008-02-05 ENSG00000028310 ENSG00000028310 65980 25818 protein-coding gene gene with protein product NA NA 12477932 Standard NM_023924 NM_023924 NA Approved FLJ13441 uc003jbq.3 Q9H8M2 OTTHUMG00000159258 ENST00000467963.1:c.1271+9G>A chr5.hg19:g.878460C>T NA A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9 hg19 CCDS34127.2 0.02 9.191463 GGCxGAC COVERED NOVEL BRD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354113.1 10 20.378408 KEEP 3 12 371 198 6770 CC 1 1 0 - 12 60 368 0 0 20.068377 325 60 11140 849 ENST00000467963.1 0.035608 1 MTRR 4552 __UNKNOWN__ __UNKNOWN__ 5 7900598 7900598 __UNKNOWN__ 3'UTR SNP T T C rs9282787 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:7900598T>C ENST00000440940.2 + 0 2576 MTRR_ENST00000264668.2_3'UTR Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase NA NA cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) [methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TTTTATATGATGTATACCCAT 0.294 NA NA T||| 416 0.0830671 0.0893 0.0764 5008 , , NA 16961 0 NA 0.172 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF025794 CCDS3874.1, CCDS47190.1 5p15.31 2011-05-12 ENSG00000124275 ENSG00000124275 4552 1.16.1.8 7473 protein-coding gene gene with protein product 602568 NA 9501215 Standard NM_024010 NA Approved cblE uc003jed.3 Q9UBK8 OTTHUMG00000090477 ENST00000440940.2:c.*427T>C chr5.hg19:g.7900598T>C NA O60471|Q32MA9|Q7Z4M8 hg19 CCDS47190.1 0.02 -0.377146 TGAxGTA COVERED NOVEL MTRR-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366333.1 1 6.3183 KEEP 0 0 0 21 638 TT 0.999869 0.90895 0 + 4 60 126 0 0 8.732673 39 60 1181 95 ENST00000440940.2 0.093023 0.909069 CMBL 134147 __UNKNOWN__ __UNKNOWN__ 5 10279944 10279944 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:10279944A>G ENST00000296658.3 - 0 1779 NM_138809.3 NP_620164.1 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase homolog (Pseudomonas) NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) hydrolase activity (GO:0016787) endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1) 13 gagccaccgcacccggccTGT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3878.1 5p15.2 2010-06-25 2006-09-12 ENSG00000164237 ENSG00000164237 134147 3.1.-.- 25090 protein-coding gene gene with protein product 613379 carboxymethylenebutenolidase-like (Pseudomonas) NA 3804974, 20177059 Standard NM_138809 NM_138809 NA Approved FLJ23617 uc003jes.3 Q96DG6 OTTHUMG00000131043 ENST00000296658.3:c.*621T>C chr5.hg19:g.10279944A>G NA D3DTC7|Q8TED6 hg19 CCDS3878.1 0.02 -0.368325 CGCxCCC COVERED NOVEL CMBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253689.1 12 3.878605 KEEP 8 2 66 36 1065 AA 0.999999 0.909068 0 - 3 60 102 1 0 7.040378 36 60 1051 114 ENST00000296658.3 0.076923 0.909069 CMBL 134147 __UNKNOWN__ __UNKNOWN__ 5 10279947 10279947 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:10279947C>T ENST00000296658.3 - 0 1776 NM_138809.3 NP_620164.1 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase homolog (Pseudomonas) NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) hydrolase activity (GO:0016787) endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1) 13 ccaccgcacccggccTGTAGG 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3878.1 5p15.2 2010-06-25 2006-09-12 ENSG00000164237 ENSG00000164237 134147 3.1.-.- 25090 protein-coding gene gene with protein product 613379 carboxymethylenebutenolidase-like (Pseudomonas) NA 3804974, 20177059 Standard NM_138809 NM_138809 NA Approved FLJ23617 uc003jes.3 Q96DG6 OTTHUMG00000131043 ENST00000296658.3:c.*618G>A chr5.hg19:g.10279947C>T NA D3DTC7|Q8TED6 hg19 CCDS3878.1 0.02 -0.403527 ACCxGGC COVERED NOVEL CMBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253689.1 13 4.483502 KEEP 7 2 63 37 1238 CC 0.999999 0.934491 0 - 4 60 122 0 1 8.375757 38 60 1265 118 ENST00000296658.3 0.095238 0.934492 CDH12 1010 __UNKNOWN__ __UNKNOWN__ 5 21751183 21751183 __UNKNOWN__ 3'UTR SNP A A G rs144406736 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:21751183A>G ENST00000382254.1 - 0 4134 RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_3'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) NA NA adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TGATATTTTCATATTTATTTC 0.259 NA NA HNSCC(59;0.17) A||| 80 0.0159744 0.0038 0.0072 5008 , , NA 16602 0.002 NA 0.0417 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L33477 CCDS3890.1 5p14.3 2010-01-26 ENSG00000154162 ENSG00000154162 1010 Cadherins / Major cadherins 1751 protein-coding gene gene with protein product 600562 NA 7731968 Standard NM_004061 NM_004061 NA Approved Br-cadherin, CDHB uc003jgk.2 P55289 OTTHUMG00000090591 ENST00000382254.1:c.*663T>C chr5.hg19:g.21751183A>G NA B2RBT1|B7Z2U6|Q86UD2 hg19 CCDS3890.1 0.02 -0.306951 TTCxTAT COVERED NOVEL CDH12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207139.1 0 3.007377 KEEP 0 0 0 10 289 AA 0.992708 0.79441 0 - 3 60 103 0 0 7.287187 32 60 969 66 ENST00000382254.1 0.085714 0.800245 CDH12 1010 __UNKNOWN__ __UNKNOWN__ 5 22078584 22078584 __UNKNOWN__ Missense_Mutation SNP C C T rs4371716 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:22078584C>T ENST00000382254.1 - 5 1288 c.202G>A c.(202-204)Gtg>Atg p.V68M CDH12_ENST00000522262.1_Missense_Mutation_p.V68M|CDH12_ENST00000504376.2_Missense_Mutation_p.V68M NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 68 Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA V -> M (in dbSNP:rs4371716). {ECO:0000269|PubMed:7731968}. adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCGGAGCCCACGTATTCTTCC 0.443 NA NA HNSCC(59;0.17) T||| 1814 0.36222 0.6755 0.2824 5008 , , NA 19512 0.1438 NA 0.2396 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 GRCh37 CM067358 CDH12 M rs4371716 T MET/VAL 2732,1674 508.8+/-367.0 855,1022,326 102 102 102 202 5.5 1 5 dbSNP_111 102 2068,6532 718.9+/-406.2 240,1588,2472 yes missense CDH12 NM_004061.3 21 1095,2610,2798 TT,TC,CC 24.0465,37.9936,36.906 benign 68/795 22078584 4800,8206 2203 4300 6503 SO:0001583 missense L33477 CCDS3890.1 5p14.3 2010-01-26 ENSG00000154162 ENSG00000154162 1010 Cadherins / Major cadherins 1751 protein-coding gene gene with protein product 600562 NA 7731968 Standard NM_004061 NM_004061 NA Approved Br-cadherin, CDHB uc003jgk.2 P55289 OTTHUMG00000090591 ENST00000382254.1:c.202G>A chr5.hg19:g.22078584C>T ENSP00000371689:p.Val68Met NA B2RBT1|B7Z2U6|Q86UD2 hg19 CCDS3890.1 0.02 1.335842 CCAxGTA COVERED 707 0.32371794871794873 339 0.6890243902439024 97 0.26795580110497236 87 0.1520979020979021 184 0.24274406332453827 T 14.54 2.565803 0.45694 0.620064 0.240465 ENSG00000154162 ENST00000504376;ENST00000382254;ENST00000522262 T;T;T 0.00013 9.26;9.26;9.26 5.5 5.5 0.81552 Cadherin (1);Cadherin-like (1); 0.039736 0.85682 N 0.000000 T 0.00012 0.0000 N 0.00885 -1.115 0.49389 P 2.1700000000002273E-4 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.03493 -1.1031 9 0.24483 T 0.36 . 11.5275 0.50588 0.0:0.0702:0.0:0.9298 rs4371716;rs52822851;rs57140592;rs4371716 68;68 B7Z2U6;P55289 .;CAD12_HUMAN M 68 ENSP00000423577:V68M;ENSP00000371689:V68M;ENSP00000428786:V68M ENSP00000371689:V68M V - 1 0 CDH12 22114341 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 5.801000 0.69115 0.931000 0.37242 -0.269000 0.10298 GTG NOVEL CDH12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207139.1 5 7.08947 KEEP 0 2 55 43 1450 CC 1 0.999678 0 - 6 60 175 0 0 10.988399 78 60 2643 186 ENST00000382254.1 0.071429 0.999678 CDH9 1007 __UNKNOWN__ __UNKNOWN__ 5 26915838 26915838 __UNKNOWN__ Silent SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:26915838C>T ENST00000231021.4 - 3 595 c.423G>A c.(421-423)ccG>ccA p.P141P NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 141 Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ATTCCGATTCCGGTTCCACCT 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(8;187 585 15745 40864 52829) NA 0 126 125 126 NA NA 5 NA 26915838 2203 4299 6502 SO:0001819 synonymous_variant AB035302 CCDS3893.1 5p14 2010-01-26 ENSG00000113100 ENSG00000113100 1007 Cadherins / Major cadherins 1768 protein-coding gene gene with protein product 609974 NA 2059658 Standard NM_016279 NM_016279 NA Approved uc003jgs.1 Q9ULB4 OTTHUMG00000090671 ENST00000231021.4:c.423G>A chr5.hg19:g.26915838C>T NA Q3B7I5 hg19 CCDS3893.1 0.02 1.379706 TTCxGGT COVERED NOVEL CDH9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207352.1 3 13.542431 KEEP 0 0 0 45 1508 CC 1 0.999317 0 - 5 60 151 0 0 9.401172 74 60 2479 182 ENST00000231021.4 0.063291 0.999317 TARS 6897 __UNKNOWN__ __UNKNOWN__ 5 33468944 33468944 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:33468944T>C ENST00000265112.3 + 0 3614 NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase NA NA gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829) NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) ggattacaggtgtgagccacc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095852 CCDS3899.1, CCDS58943.1 5p13.2 2012-10-02 ENSG00000113407 ENSG00000113407 6897 6.1.1.3 Aminoacyl tRNA synthetases / Class II 11572 protein-coding gene gene with protein product threonine tRNA ligase 1, cytoplasmic 187790 NA Standard NM_152295 NM_152295 NA Approved uc011coc.3 P26639 OTTHUMG00000090683 ENST00000265112.3:c.*1131T>C chr5.hg19:g.33468944T>C NA A8K8I1|B4DEG8|Q96FP5|Q9BWA6 hg19 CCDS3899.1 0.02 1.59049 AGGxGTG COVERED NOVEL TARS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207367.1 17 3.680851 KEEP 1 2 74 38 1157 TT 1 0.999894 0 + 4 60 136 0 0 8.550782 79 60 2352 194 ENST00000265112.3 0.048193 0.999895 C1QTNF3 114899 __UNKNOWN__ __UNKNOWN__ 5 34020277 34020277 __UNKNOWN__ 3'UTR SNP C C T rs840386 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:34020277C>T ENST00000382065.3 - 0 2077 C1QTNF3_ENST00000231338.7_3'UTR|RP11-1084J3.4_ENST00000382079.3_Intron NM_181435.5 NP_852100.3 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 NA NA cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206) collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) TCACTACATCCGATTCTCTCA 0.398 NA NA C||| 2366 0.472444 0.3843 0.4914 5008 , , NA 17756 0.4762 NA 0.3728 False NA ,,, NA NA NA 2504 0.6769 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF329837 CCDS3904.1, CCDS34141.1 5p13 2009-05-20 ENSG00000082196 ENSG00000082196 114899 14326 protein-coding gene gene with protein product cartonectin 612045 NA 18421280 Standard NM_030945 NM_030945 NA Approved CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26 uc003jio.3 Q9BXJ4 OTTHUMG00000090735 ENST00000382065.3:c.*411G>A chr5.hg19:g.34020277C>T NA Q0VAN4|Q542Y2|Q6MZN1|Q96KY1 hg19 CCDS34141.1 0.02 -0.421032 ATCxGAT COVERED NOVEL C1QTNF3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364413.2 2 5.717848 KEEP 0 0 0 19 624 CC 0.99986 0.948269 0 - 4 60 126 0 0 8.532843 44 60 1431 80 ENST00000382065.3 0.083333 0.948402 IL7R 3575 __UNKNOWN__ __UNKNOWN__ 5 35875593 35875593 __UNKNOWN__ Intron SNP A A T rs987106 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:35875593A>T ENST00000303115.3 + 7 929 IL7R_ENST00000343305.4_Intron|IL7R_ENST00000506850.1_Intron NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor NA NA B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CACTTCATCTATCAATGTTCT 0.428 NA NA Mis, O ALL, ETP ALL Severe combined immune deficiency A||| 2253 0.44988 0.553 0.3732 5008 , , NA 16663 0.2728 NA 0.5547 False NA ,,, NA NA NA 2504 0.4397 NA NA NA Dom yes 5 5p13 146661 interleukin 7 receptor yes L 0 A 2515,1891 628.6+/-395.1 745,1025,433 99 86 90 -9.2 0 5 dbSNP_86 90 4575,4025 595.8+/-393.5 1195,2185,920 no intron IL7R NM_002185.2 1940,3210,1353 TT,TA,AA 46.8023,42.9187,45.4867 35875593 7090,5916 2203 4300 6503 SO:0001627 intron_variant M29696 CCDS3911.1 5p13 2014-09-17 ENSG00000168685 ENSG00000168685 3575 Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing 6024 protein-coding gene gene with protein product 146661 NA 2317865 Standard NM_002185 NA Approved CD127 uc003jjs.4 P16871 OTTHUMG00000090791 ENST00000303115.3:c.801-21A>T chr5.hg19:g.35875593A>T NA B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1 hg19 CCDS3911.1 0.02 0.986682 TCTxTCA COVERED NOVEL IL7R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207577.2 2 11.733408 KEEP 0 0 0 39 1166 AA 1 0.999881 0 + 5 60 139 0 0 7.943394 84 60 2499 189 ENST00000303115.3 0.05618 0.999881 UGT3A1 133688 __UNKNOWN__ __UNKNOWN__ 5 35955525 35955525 __UNKNOWN__ 3'UTR SNP C C T rs10472268 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:35955525C>T ENST00000507113.1 - 0 1607 UGT3A1_ENST00000274278.3_Intron|UGT3A1_ENST00000503189.1_3'UTR Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 NA NA integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541) glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TATAATTTGTCGCCATCACAG 0.423 NA NA C||| 1697 0.338858 0.4599 0.3343 5008 , , NA 21092 0.1181 NA 0.4165 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3913.1, CCDS54841.1 5p13.2 2014-05-20 ENSG00000145626 ENSG00000145626 133688 UDP glucuronosyltransferases 26625 protein-coding gene gene with protein product NA NA Standard NM_152404 NM_152404 NA Approved FLJ34658 uc003jjv.2 Q6NUS8 OTTHUMG00000131107 ENST00000507113.1:c.*206G>A chr5.hg19:g.35955525C>T NA G5E961|Q8IYS9|Q8NAW4|Q96DM6 hg19 0.02 -0.26317 TGTxGCC COVERED NOVEL UGT3A1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367193.2 3 2.406989 KEEP 0 0 0 8 269 CC 0.99257 0.688515 0 - 3 60 94 0 0 6.598125 27 60 901 56 ENST00000507113.1 0.1 0.693668 GHR 2690 __UNKNOWN__ __UNKNOWN__ 5 42719239 42719239 __UNKNOWN__ Missense_Mutation SNP A A C rs6180 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:42719239A>C ENST00000230882.4 + 10 1820 c.1630A>C c.(1630-1632)Atc>Ctc p.I544L GHR_ENST00000537449.1_Missense_Mutation_p.I357L|GHR_ENST00000357703.3_Missense_Mutation_p.I522L NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 544 NA I -> L (polymorphism with a modifier effect on plasma HDL cholesterol levels in familial hypercholesterolemia patients; dbSNP:rs6180). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:12910492, ECO:0000269|PubMed:2813379}. 2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901) NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CAAAAAGTGCATCCCTGTGGC 0.478 NA NA A||| 2226 0.444489 0.379 0.4006 5008 , , NA 24092 0.5694 NA 0.4185 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 GRCh37 CM032246 GHR M rs6180 A LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,LEU/ILE,, 1714,2692 515.9+/-369.0 327,1060,816 103 87 92 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1630,1651,1630,1630,1630,1630,1630,1630,1630,1564,, 3.4 1 5 dbSNP_52 92 3961,4639 550.4+/-385.7 903,2155,1242 yes missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,utr-3,utr-3 GHR NM_000163.4,NM_001242399.2,NM_001242400.2,NM_001242401.3,NM_001242402.2,NM_001242403.2,NM_001242404.2,NM_001242405.2,NM_001242406.2,NM_001242460.1,NM_001242461.1,NM_001242462.1 5,5,5,5,5,5,5,5,5,5,, 1230,3215,2058 CC,CA,AA 46.0581,38.9015,43.6337 probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,, 544/639,551/646,544/639,544/639,544/639,544/639,544/639,544/639,544/639,522/617,, 42719239 5675,7331 2203 4300 6503 SO:0001583 missense CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1 5p14-p12 2013-03-25 ENSG00000112964 ENSG00000112964 2690 Fibronectin type III domain containing 4263 protein-coding gene gene with protein product growth hormone binding protein 600946 NA Standard NM_000163 NM_001242460 NA Approved GHBP uc003jmt.3 P10912 OTTHUMG00000094791 ENST00000230882.4:c.1630A>C chr5.hg19:g.42719239A>C ENSP00000230882:p.Ile544Leu NA Q9HCX2 hg19 CCDS3940.1 0.02 1.91266 TGCxTCC COVERED 966 0.4423076923076923 180 0.36585365853658536 147 0.40607734806629836 334 0.583916083916084 305 0.4023746701846966 A 14.26 2.482225 0.44147 0.389015 0.460581 ENSG00000112964 ENST00000230882;ENST00000357703;ENST00000537449 T;T;T 0.35605 1.3;1.3;1.3 6.08 3.43 0.39272 . 0.537042 0.21498 N 0.073576 T 0.00012 0.0000 H 0.94808 3.585 0.49483 P 2.0600000000003948E-4 P 0.50272 0.933 P 0.62014 0.897 T 0.47861 -0.9084 9 0.51188 T 0.08 -7.1042 5.4155 0.16372 0.6692:0.0:0.2016:0.1292 rs6180;rs17231187;rs52796340;rs61155939;rs6180 544 P10912 GHR_HUMAN L 544;522;357 ENSP00000230882:I544L;ENSP00000350335:I522L;ENSP00000442206:I357L ENSP00000230882:I544L I + 1 0 GHR 42754996 0.991000 0.36638 0.951000 0.38953 0.529000 0.34654 1.574000 0.36482 1.135000 0.42183 0.482000 0.46254 ATC NOVEL GHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211605.2 2 14.74258 KEEP 0 0 0 49 1492 AA 1 0.998867 0 + 4 60 140 0 0 9.083214 73 60 2183 184 ENST00000230882.4 0.051948 0.998867 PARP8 79668 __UNKNOWN__ __UNKNOWN__ 5 50057709 50057709 __UNKNOWN__ Missense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:50057709G>A ENST00000281631.5 + 6 558 c.400G>A c.(400-402)Gaa>Aaa p.E134K PARP8_ENST00000503750.2_Missense_Mutation_p.E134K|PARP8_ENST00000505697.2_Missense_Mutation_p.E134K|PARP8_ENST00000514067.2_Missense_Mutation_p.E134K|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.E113K NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 134 NA intracellular (GO:0005622) NAD+ ADP-ribosyltransferase activity (GO:0003950) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) CAATGATTCCGAAGAATTTTA 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 84 83 84 NA NA 5 NA 50057709 2203 4300 6503 SO:0001583 missense AL834477 CCDS3954.1, CCDS54849.1 5q11.2 2010-02-16 ENSG00000151883 ENSG00000151883 79668 Poly (ADP-ribose) polymerases 26124 protein-coding gene gene with protein product NA NA 15273990 Standard NM_024615 NM_001178055 NA Approved FLJ21308, pART16 uc003joo.3 Q8N3A8 OTTHUMG00000096969 ENST00000281631.5:c.400G>A chr5.hg19:g.50057709G>A ENSP00000281631:p.Glu134Lys NA Q3KRB7|Q6DHZ1|Q9H754 hg19 CCDS3954.1 0.02 -0.350883 TCCxAAG COVERED . . . . . . . . . . G 33 5.287100 0.95517 . . ENSG00000151883 ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554 . . . 5.51 5.51 0.81932 . 0.000000 0.85682 D 0.000000 T 0.67646 0.2915 L 0.39898 1.24 0.80722 D 1 D;D;D 0.65815 0.992;0.995;0.992 P;D;D 0.68192 0.905;0.956;0.935 T 0.64407 -0.6415 8 . . . -21.6398 16.9216 0.86166 0.0:0.0:1.0:0.0 . 26;134;134 B4DQ81;Q8N3A8-2;Q8N3A8 .;.;PARP8_HUMAN K 134;134;134;134;113 . . E + 1 0 PARP8 50093466 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 7.433000 0.80362 2.595000 0.87683 0.557000 0.71058 GAA NOVEL PARP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214035.3 0 5.718303 KEEP 0 0 0 19 639 GG 0.99986 0.877585 0 + 3 60 95 0 0 6.30702 37 60 1210 86 ENST00000281631.5 0.075 0.877708 ITGA2 3673 __UNKNOWN__ __UNKNOWN__ 5 52390415 52390415 __UNKNOWN__ 3'UTR SNP A A C rs7725246 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:52390415A>C ENST00000296585.5 + 0 7675 NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) NA NA axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032) axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TGTTTGTACAAAAAGTTGCAG 0.259 NA NA A||| 1688 0.337061 0.2814 0.4496 5008 , , NA 14248 0.2917 NA 0.3877 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3957.1 5q11.2 2010-03-23 ENSG00000164171 ENSG00000164171 3673 CD molecules, Integrins 6137 protein-coding gene gene with protein product 192974 CD49B NA Standard NM_002203 NM_002203 NA Approved CD49b uc003joy.3 P17301 OTTHUMG00000131165 ENST00000296585.5:c.*3986A>C chr5.hg19:g.52390415A>C NA Q14595 hg19 CCDS3957.1 0.02 1.751504 ACAxAAA COVERED NOVEL ITGA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253857.2 2 8.962667 KEEP 0 1 38 43 1349 AA 1 0.999559 0 + 6 60 204 0 0 13.880285 78 60 2373 182 ENST00000296585.5 0.071429 0.999559 RAB3C 115827 __UNKNOWN__ __UNKNOWN__ 5 58150077 58150077 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:58150077A>G ENST00000282878.4 + 0 3752 CTD-2176I21.2_ENST00000510198.1_RNA NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family NA NA antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) TAGTGTTTTAAGTATGAATTT 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY026936 CCDS3976.1 5q13 2008-02-05 ENSG00000152932 ENSG00000152932 115827 RAB, member RAS oncogene 30269 protein-coding gene gene with protein product 612829 NA 12296628 Standard NM_138453 NM_138453 NA Approved uc003jrp.3 Q96E17 OTTHUMG00000097053 ENST00000282878.4:c.*2899A>G chr5.hg19:g.58150077A>G NA hg19 CCDS3976.1 0.02 2.017883 TTAxGTA COVERED NOVEL RAB3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214156.2 3 5.388247 KEEP 0 2 72 43 1395 AA 1 0.993703 0 + 4 60 144 0 0 9.78504 61 60 1928 153 ENST00000282878.4 0.061538 0.993703 C5orf64 285668 __UNKNOWN__ __UNKNOWN__ 5 60939258 60939258 __UNKNOWN__ Intron SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:60939258T>A ENST00000505642.1 + 2 112 C5orf64_ENST00000313303.7_Intron|C5orf64_ENST00000510414.1_Intron NM_173667.2 NP_775938.1 Q2M2E5 CE064_HUMAN chromosome 5 open reading frame 64 NA NA extracellular region (GO:0005576) breast(1) 1 ttctttataatttacccagcc 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA 5 NA 60939258 209 187 396 SO:0001627 intron_variant CCDS54860.1 5q12.1 2014-02-12 2011-05-05 ENSG00000178722 ENSG00000178722 285668 26744 protein-coding gene gene with protein product NA NA Standard NM_173667 NM_173667 NA Approved FLJ37543 uc003jst.1 Q2M2E5 OTTHUMG00000162412 ENST00000505642.1:c.37+31T>A chr5.hg19:g.60939258T>A NA Q2M2H1|Q8N1U8 hg19 CCDS54860.1 0.02 5.181073 TAAxTTA COVERED NOVEL C5orf64-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368790.1 22 7.851331 KEEP 0 4 113 66 2037 TT 1 1 0 + 12 60 337 0 0 20.547484 166 60 5137 341 ENST00000505642.1 0.067416 1 SREK1IP1 285672 __UNKNOWN__ __UNKNOWN__ 5 64018801 64018801 __UNKNOWN__ 3'UTR SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:64018801G>T ENST00000513458.4 - 0 2045 NM_173829.3 NP_776190.1 Q8N9Q2 SR1IP_HUMAN SREK1-interacting protein 1 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(3)|ovary(1) 6 TTCACCTGCAGCCGTATCTAT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK094073 CCDS34171.1 5q12.3 2010-09-20 2010-09-20 2010-09-20 ENSG00000153006 ENSG00000153006 285672 26716 protein-coding gene gene with protein product p18 splicing regulatory protein NA SFRS12-interacting protein 1 SFRS12IP1 NA 15456940 Standard NM_173829 NM_173829 NA Approved FLJ36754, P18SRP uc003jtk.3 Q8N9Q2 OTTHUMG00000162291 ENST00000513458.4:c.*1410C>A chr5.hg19:g.64018801G>T NA Q32NC8 hg19 CCDS34171.1 0.02 -0.263188 GCAxCCG COVERED NOVEL SREK1IP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368457.4 2 2.708705 KEEP 0 0 0 9 310 GG 0.99254 0.688494 0 - 3 60 92 0 0 6.398422 27 60 974 54 ENST00000513458.4 0.1 0.693668 MAP1B 4131 __UNKNOWN__ __UNKNOWN__ 5 71494931 71494931 __UNKNOWN__ Missense_Mutation SNP A A C rs13153166 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:71494931A>C ENST00000296755.7 + 5 6047 c.5749A>C c.(5749-5751)Agt>Cgt p.S1917R NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1917 NA S -> R (in dbSNP:rs13153166). axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202) structural molecule activity (GO:0005198) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAAATCTCCAAGTGACAGTGG 0.443 NA NA A||| 70 0.0139776 8e-04 0.0144 5008 , , NA 19524 0 NA 0.0437 False NA ,,, NA NA NA 2504 0.0153 NA NA NA Melanoma(17;367 822 11631 31730 47712) NA 0 A ARG/SER 35,4369 38.4+/-70.7 0,35,2167 61 64 63 5749 -6.4 0 5 dbSNP_121 63 405,8195 120.4+/-179.7 14,377,3909 yes missense MAP1B NM_005909.3 110 14,412,6076 CC,CA,AA 4.7093,0.7947,3.3836 possibly-damaging 1917/2469 71494931 440,12564 2202 4300 6502 SO:0001583 missense L06237 CCDS4012.1 5q13 2014-06-12 ENSG00000131711 ENSG00000131711 4131 6836 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 102 157129 NA 1881920 Standard NM_005909 NM_005909 NA Approved MAP5, PPP1R102 uc003kbw.4 P46821 OTTHUMG00000100952 ENST00000296755.7:c.5749A>C chr5.hg19:g.71494931A>C ENSP00000296755:p.Ser1917Arg NA A2BDK5 hg19 CCDS4012.1 0.02 1.800907 CCAxGTG COVERED 41 0.018772893772893772 1 0.0020325203252032522 8 0.022099447513812154 0 0.0 32 0.04221635883905013 A 7.818 0.717223 0.15372 0.007947 0.047093 ENSG00000131711 ENST00000296755 T 0.03358 3.96 5.25 -6.42 0.01932 . 1.069650 0.07205 N 0.858174 T 0.00271 0.0008 N 0.08118 0 0.09310 N 1 B;B 0.27625 0.183;0.001 B;B 0.24394 0.053;0.004 T 0.48547 -0.9026 10 0.15066 T 0.55 0.3559 1.5602 0.02593 0.2865:0.2001:0.3763:0.1371 rs13153166;rs52835272;rs60281324;rs13153166 1791;1917 A2BDK6;P46821 .;MAP1B_HUMAN R 1917 ENSP00000296755:S1917R ENSP00000296755:S1917R S + 1 0 MAP1B 71530687 0.000000 0.05858 0.003000 0.11579 0.867000 0.49689 -0.116000 0.10724 -0.676000 0.05238 -0.490000 0.04691 AGT NOVEL MAP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218561.6 5 8.42449 KEEP 0 0 0 28 870 AA 0.999997 0.995081 0 + 4 60 130 0 0 8.333217 63 60 1968 123 ENST00000296755.7 0.059701 0.995084 FCHO2 115548 __UNKNOWN__ __UNKNOWN__ 5 72311342 72311342 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:72311342A>G ENST00000430046.2 + 7 716 FCHO2_ENST00000287761.6_Intron|FCHO2_ENST00000512348.1_Intron|FCHO2_ENST00000341845.6_Intron NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 NA NA clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886) phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) cacctgcctcagcctcccaaa 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL831971 CCDS47230.1, CCDS54868.1 5q13.2 2005-08-15 ENSG00000157107 ENSG00000157107 115548 25180 protein-coding gene gene with protein product 613438 NA 15254787 Standard XM_291142 NM_138782 NA Approved uc003kcl.3 Q0JRZ9 OTTHUMG00000162413 ENST00000430046.2:c.601-111A>G chr5.hg19:g.72311342A>G NA A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5 hg19 CCDS47230.1 0.02 -0.236824 CTCxGCC COVERED NOVEL FCHO2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000368795.3 8 3.008221 KEEP 2 0 0 10 295 AA 0.992708 0.607941 0 + 4 60 134 0 0 10.536016 21 60 635 51 ENST00000430046.2 0.16 0.612407 ANKRA2 57763 __UNKNOWN__ __UNKNOWN__ 5 72848402 72848402 __UNKNOWN__ 3'UTR SNP G G A rs552104190 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:72848402G>A ENST00000296785.3 - 0 1820 NM_023039.4 NP_075526.1 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 NA NA cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) low-density lipoprotein particle binding (GO:0030169) endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) TACATGCCACGAAAACattaa 0.244 NA NA G||| 6 0.00119808 0.0045 0 5008 , , NA 12950 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AA442702 CCDS4020.1 5q12-q13 2013-01-10 ENSG00000164331 ENSG00000164331 57763 Ankyrin repeat domain containing 13208 protein-coding gene gene with protein product 605787 NA 10965114 Standard NM_023039 NM_023039 NA Approved uc003kcu.2 Q9H9E1 OTTHUMG00000102030 ENST00000296785.3:c.*220C>T chr5.hg19:g.72848402G>A NA hg19 CCDS4020.1 0.02 -0.298249 CACxAAA COVERED NOVEL ANKRA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219814.2 1 3.611427 KEEP 0 0 0 12 396 GG 0.993634 0.776087 0 - 3 60 95 0 0 6.527114 31 60 1014 63 ENST00000296785.3 0.088235 0.78106 UTP15 84135 __UNKNOWN__ __UNKNOWN__ 5 72876119 72876119 __UNKNOWN__ 3'UTR SNP T T C rs343119 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:72876119T>C ENST00000296792.4 + 0 2012 UTP15_ENST00000543251.1_3'UTR NM_001284431.1|NM_032175.2 NP_001271360.1|NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) NA NA rRNA processing (GO:0006364) cytoplasm (GO:0005737)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) TTTTGAATTATAGCATCTTCA 0.353 NA NA T||| 1192 0.238019 0.3026 0.183 5008 , , NA 16828 0.1786 NA 0.2694 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL831972 CCDS34186.1, CCDS68893.1, CCDS68894.1 5q13.2 2013-01-10 2006-04-20 ENSG00000164338 ENSG00000164338 84135 WD repeat domain containing 25758 protein-coding gene gene with protein product NA UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast) NA 12477932 Standard NM_032175 NM_032175 NA Approved FLJ12787, NET21, FLJ23637 uc003kcw.1 Q8TED0 OTTHUMG00000162453 ENST00000296792.4:c.*200T>C chr5.hg19:g.72876119T>C NA B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8 hg19 CCDS34186.1 0.02 1.815445 TTAxAGC COVERED NOVEL UTP15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368965.1 2 11.429478 KEEP 0 0 0 38 1115 TT 1 0.973965 0 + 4 60 136 0 0 9.319056 50 60 1479 125 ENST00000296792.4 0.074074 0.973965 ARHGEF28 64283 __UNKNOWN__ __UNKNOWN__ 5 73153424 73153424 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:73153424G>A ENST00000426542.2 + 14 1810 ARHGEF28_ENST00000545377.1_Intron|ARHGEF28_ENST00000296799.4_Intron|ARHGEF28_ENST00000437974.1_Intron|ARHGEF28_ENST00000513042.2_Intron|ARHGEF28_ENST00000296794.6_Intron|ARHGEF28_ENST00000287898.5_Intron Q8N1W1 ARG28_HUMAN Rho guanine nucleotide exchange factor (GEF) 28 NA NA central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723) NA acacacacacGTATATGCTAT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1 5q13.2 2012-08-08 ENSG00000214944 ENSG00000214944 64283 30322 protein-coding gene gene with protein product 612790 NA 9199174, 11058585 Standard NM_001177693 NA Approved RGNEF, p190RhoGEF, RIP2 uc010izf.3 Q8N1W1 OTTHUMG00000162454 ENST00000426542.2:c.1791-57G>A chr5.hg19:g.73153424G>A NA B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0 hg19 CCDS54870.1 0.02 1.625338 CACxTAT COVERED NOVEL ARHGEF28-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000368975.1 6 4.212905 KEEP 0 0 0 14 453 GG 0.995343 0.966299 0 + 4 60 122 0 0 8.024499 47 60 1542 91 ENST00000426542.2 0.078431 0.97082 F2RL2 2151 __UNKNOWN__ __UNKNOWN__ 5 75911399 75911399 __UNKNOWN__ 3'UTR SNP T T C rs1047530 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:75911399T>C ENST00000296641.4 - 0 3336 IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 NA NA blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611) apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) ATCTCAGGAATCTTTTATGCT 0.323 NA NA T||| 1438 0.287141 0.1331 0.2896 5008 , , NA 18115 0.2609 NA 0.4881 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U92971 CCDS4031.1, CCDS58959.1 5q13 2012-08-08 ENSG00000164220 ENSG00000164220 2151 GPCR / Class A : Protease activated receptors 3539 protein-coding gene gene with protein product proteinase-activated receptor-3 601919 NA 9087410, 9722561 Standard NM_004101 NA Approved PAR3 uc003kem.4 O00254 OTTHUMG00000102119 ENST00000296641.4:c.*2008A>G chr5.hg19:g.75911399T>C NA B2R754|B4DQ13|Q52M68|Q7Z3W3 hg19 CCDS4031.1 0.02 1.84799 GAAxCTT COVERED NOVEL F2RL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219958.3 0 14.140705 KEEP 0 0 0 47 1435 TT 1 0.997898 0 - 4 60 135 0 0 8.679393 69 60 2110 167 ENST00000296641.4 0.054795 0.997898 F2RL2 2151 __UNKNOWN__ __UNKNOWN__ 5 75911987 75911987 __UNKNOWN__ 3'UTR SNP T T C rs1047494 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:75911987T>C ENST00000296641.4 - 0 2748 IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 NA NA blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611) apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) TATATataaatgccataataa 0.343 NA NA T||| 1814 0.36222 0.2405 0.3357 5008 , , NA 16742 0.3442 NA 0.5159 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U92971 CCDS4031.1, CCDS58959.1 5q13 2012-08-08 ENSG00000164220 ENSG00000164220 2151 GPCR / Class A : Protease activated receptors 3539 protein-coding gene gene with protein product proteinase-activated receptor-3 601919 NA 9087410, 9722561 Standard NM_004101 NA Approved PAR3 uc003kem.4 O00254 OTTHUMG00000102119 ENST00000296641.4:c.*1420A>G chr5.hg19:g.75911987T>C NA B2R754|B4DQ13|Q52M68|Q7Z3W3 hg19 CCDS4031.1 0.02 -0.298234 AAAxGCC COVERED NOVEL F2RL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219958.3 2 3.610559 KEEP 0 0 0 12 369 TT 0.993634 0.776087 0 - 3 60 108 0 0 7.866575 30 60 933 67 ENST00000296641.4 0.090909 0.78106 F2RL2 2151 __UNKNOWN__ __UNKNOWN__ 5 75912843 75912843 __UNKNOWN__ 3'UTR SNP A A G rs961536 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:75912843A>G ENST00000296641.4 - 0 1892 IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 NA NA blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611) apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) AATACCACTCACAGAAATAGG 0.373 NA NA A||| 1859 0.371206 0.2322 0.3372 5008 , , NA 20148 0.3978 NA 0.5159 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U92971 CCDS4031.1, CCDS58959.1 5q13 2012-08-08 ENSG00000164220 ENSG00000164220 2151 GPCR / Class A : Protease activated receptors 3539 protein-coding gene gene with protein product proteinase-activated receptor-3 601919 NA 9087410, 9722561 Standard NM_004101 NA Approved PAR3 uc003kem.4 O00254 OTTHUMG00000102119 ENST00000296641.4:c.*564T>C chr5.hg19:g.75912843A>G NA B2R754|B4DQ13|Q52M68|Q7Z3W3 hg19 CCDS4031.1 0.02 -0.315717 CTCxCAG COVERED NOVEL F2RL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219958.3 1 3.911326 KEEP 0 0 0 13 391 AA 0.994391 0.831028 0 - 4 60 119 0 0 8.41407 31 60 919 72 ENST00000296641.4 0.114286 0.835716 F2RL2 2151 __UNKNOWN__ __UNKNOWN__ 5 75913181 75913181 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:75913181A>G ENST00000296641.4 - 0 1554 IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 NA NA blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611) apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) cctgggaggcagaggttgcaa 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U92971 CCDS4031.1, CCDS58959.1 5q13 2012-08-08 ENSG00000164220 ENSG00000164220 2151 GPCR / Class A : Protease activated receptors 3539 protein-coding gene gene with protein product proteinase-activated receptor-3 601919 NA 9087410, 9722561 Standard NM_004101 NA Approved PAR3 uc003kem.4 O00254 OTTHUMG00000102119 ENST00000296641.4:c.*226T>C chr5.hg19:g.75913181A>G NA B2R754|B4DQ13|Q52M68|Q7Z3W3 hg19 CCDS4031.1 0.02 -0.306974 GGCxGAG COVERED NOVEL F2RL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219958.3 3 3.610947 KEEP 0 0 0 12 374 AA 0.993634 0.795151 0 - 3 60 93 0 0 6.328349 31 60 937 58 ENST00000296641.4 0.088235 0.800245 S100Z 170591 __UNKNOWN__ __UNKNOWN__ 5 76173840 76173840 __UNKNOWN__ 3'UTR SNP G G A rs2359658 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:76173840G>A ENST00000513010.1 + 0 813 S100Z_ENST00000317593.4_Intron Q8WXG8 S100Z_HUMAN S100 calcium binding protein Z NA NA calcium ion binding (GO:0005509) large_intestine(1)|ovary(1) 2 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40) ACTTTATGTAGATATTCTAAA 0.299 NA NA A||| 3491 0.697085 0.944 0.732 5008 , , NA 17251 0.6637 NA 0.7068 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF437876 CCDS43333.1 5q13.3 2014-08-12 2006-09-11 ENSG00000171643 ENSG00000171643 170591 S100 calcium binding proteins, EF-hand domain containing 30367 protein-coding gene gene with protein product 610103 S100 calcium binding protein, zeta NA 11747429 Standard NM_130772 NM_130772 NA Approved Gm625, S100-zeta uc003keq.4 Q8WXG8 OTTHUMG00000162441 ENST00000513010.1:c.*183G>A chr5.hg19:g.76173840G>A NA hg19 CCDS43333.1 0.02 -0.421092 GTAxATA COVERED NOVEL S100Z-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368926.1 3 5.717229 KEEP 0 0 0 19 655 GG 0.99986 0.948269 0 + 4 60 120 0 0 7.934195 44 60 1547 100 ENST00000513010.1 0.083333 0.948402 S100Z 170591 __UNKNOWN__ __UNKNOWN__ 5 76173866 76173866 __UNKNOWN__ 3'UTR SNP T T C rs12188004 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:76173866T>C ENST00000513010.1 + 0 839 S100Z_ENST00000317593.4_Intron Q8WXG8 S100Z_HUMAN S100 calcium binding protein Z NA NA calcium ion binding (GO:0005509) large_intestine(1)|ovary(1) 2 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40) TATGCCCTACTTGAAACTTGC 0.294 NA NA T||| 2370 0.473243 0.292 0.6268 5008 , , NA 17289 0.5565 NA 0.7048 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF437876 CCDS43333.1 5q13.3 2014-08-12 2006-09-11 ENSG00000171643 ENSG00000171643 170591 S100 calcium binding proteins, EF-hand domain containing 30367 protein-coding gene gene with protein product 610103 S100 calcium binding protein, zeta NA 11747429 Standard NM_130772 NM_130772 NA Approved Gm625, S100-zeta uc003keq.4 Q8WXG8 OTTHUMG00000162441 ENST00000513010.1:c.*209T>C chr5.hg19:g.76173866T>C NA hg19 CCDS43333.1 0.02 -0.412244 TACxTGA COVERED NOVEL S100Z-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368926.1 2 5.716728 KEEP 0 0 0 19 603 TT 0.99986 0.941609 0 + 4 60 138 0 0 9.769924 43 60 1328 92 ENST00000513010.1 0.085106 0.941741 ZBED3 84327 __UNKNOWN__ __UNKNOWN__ 5 76369494 76369494 __UNKNOWN__ 3'UTR SNP C C G rs77099102 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:76369494C>G ENST00000255198.2 - 0 4574 NM_032367.2 NP_115743.1 Q96IU2 ZBED3_HUMAN zinc finger, BED-type containing 3 NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|membrane (GO:0016020) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA all_lung(232;0.00645)|Lung NSC(167;0.0135)|Ovarian(174;0.0798)|Prostate(461;0.121) OV - Ovarian serous cystadenocarcinoma(54;2.24e-51)|Epithelial(54;9.06e-46)|all cancers(79;2.48e-41) GACTAAACAGCTTAAAAAATT 0.259 NA NA c||| 115 0.0229633 0.0015 0.0375 5008 , , NA 17474 0 NA 0.0775 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007239 CCDS4036.1 5q13.2 2013-05-03 ENSG00000132846 ENSG00000132846 84327 Zinc fingers, BED-type 20711 protein-coding gene gene with protein product 615250 NA 23533661 Standard NM_032367 NM_032367 NA Approved MGC15435 uc003kev.1 Q96IU2 OTTHUMG00000102131 ENST00000255198.2:c.*3505G>C chr5.hg19:g.76369494C>G NA hg19 CCDS4036.1 0.02 -0.377224 CAGxTTA COVERED NOVEL ZBED3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219970.1 1 4.213759 KEEP 0 0 0 14 500 CC 0.995343 0.904836 0 - 5 60 167 0 0 12.375123 38 60 1333 69 ENST00000255198.2 0.116279 0.909069 DMGDH 29958 __UNKNOWN__ __UNKNOWN__ 5 78351636 78351636 __UNKNOWN__ Silent SNP A A C rs2253262 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:78351636A>C ENST00000255189.3 - 3 400 c.372T>G c.(370-372)ggT>ggG p.G124G DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 124 NA amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544) mitochondrial matrix (GO:0005759) aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822) breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CCTTTACCTGACCAGTTTCTT 0.353 NA NA C||| 3258 0.650559 0.5938 0.6455 5008 , , NA 18842 0.7817 NA 0.6262 False NA ,,, NA NA NA 2504 0.6207 NA NA NA NA 0 C 2696,1708 508.8+/-367.0 812,1072,318 91 93 93 372 -0.5 1 5 dbSNP_100 93 5498,3098 470.2+/-367.8 1758,1982,558 no coding-synonymous DMGDH NM_013391.2 2570,3054,876 CC,CA,AA 36.04,38.7829,36.9692 124/867 78351636 8194,4806 2202 4298 6500 SO:0001819 synonymous_variant AF111858 CCDS4044.1 5q14.1 2008-02-05 ENSG00000132837 ENSG00000132837 29958 1.5.99.2 24475 protein-coding gene gene with protein product 605849 NA 10767172, 11231903 Standard NM_013391 NM_013391 NA Approved uc003kfs.3 Q9UI17 OTTHUMG00000108159 ENST00000255189.3:c.372T>G chr5.hg19:g.78351636A>C NA B2RBN0|B4E1J9 hg19 CCDS4044.1 0.02 2.038767 CTGxCCA COVERED NOVEL DMGDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226963.3 5 8.421893 KEEP 0 0 0 28 860 AA 0.999997 0.998198 0 - 4 60 142 0 0 9.353876 70 60 2110 147 ENST00000255189.3 0.054054 0.9982 MTX3 345778 __UNKNOWN__ __UNKNOWN__ 5 79277952 79277952 __UNKNOWN__ 3'UTR SNP A A C rs374093076 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:79277952A>C ENST00000512560.1 - 0 2430 NM_001167741.1 NP_001161213.1 Q5HYI7 MTX3_HUMAN metaxin 3 NA NA protein targeting to mitochondrion (GO:0006626) mitochondrial outer membrane (GO:0005741) endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1) 7 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) Gacacacacaaacacacacac 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX538064 CCDS47239.1, CCDS47239.2, CCDS54872.1 5q14.1 2004-08-18 ENSG00000177034 345778 24812 protein-coding gene gene with protein product NA NA 15087125 Standard XM_293971 NM_001010891 NA Approved uc010jah.3 Q5HYI7 ENST00000512560.1:c.*1555T>G chr5.hg19:g.79277952A>C NA B4DL65|E9PB57|Q7Z380|Q8NB92 hg19 CCDS54872.1 0.02 1.979543 ACAxACA COVERED NOVEL MTX3-002 PUTATIVE basic|CCDS protein_coding NA protein_coding OTTHUMT00000369495.2 18 2.513424 KEEP 0 1 30 19 542 AA 0.999863 0.986018 0 - 4 60 134 2 0 9.089979 51 60 1560 108 ENST00000512560.1 0.072727 0.986153 LYSMD3 116068 __UNKNOWN__ __UNKNOWN__ 5 89812248 89812248 __UNKNOWN__ 3'UTR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:89812248G>C ENST00000500869.2 - 0 3042 LYSMD3_ENST00000315948.6_3'UTR Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain containing 3 NA NA integral component of membrane (GO:0016021) breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) cacacacacagacacacaTGT 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537972 CCDS43338.1, CCDS68911.1 5q14.3 2010-12-09 ENSG00000176018 ENSG00000176018 116068 26969 protein-coding gene gene with protein product NA NA Standard XM_371760 NM_001286812 NA Approved FLJ13542 uc003kjr.3 Q7Z3D4 OTTHUMG00000162667 ENST00000500869.2:c.*2381C>G chr5.hg19:g.89812248G>C NA Q5H9U0|Q6PEK0|Q9NTE9 hg19 0.02 1.672418 ACAxACA COVERED NOVEL LYSMD3-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000369989.1 20 9.266882 KEEP 0 1 38 44 1544 GG 1 0.999895 0 - 8 60 281 1 0 20.580048 73 60 2514 192 ENST00000500869.2 0.098765 0.999895 GLRX 2745 __UNKNOWN__ __UNKNOWN__ 5 95152313 95152313 __UNKNOWN__ Silent SNP A A G rs4561 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:95152313A>G ENST00000379979.4 - 2 276 c.225T>C c.(223-225)atT>atC p.I75I GLRX_ENST00000237858.6_Silent_p.I75I|GLRX_ENST00000512469.2_Silent_p.I75I|GLRX_ENST00000505427.1_Silent_p.I75I|GLRX_ENST00000508780.1_Silent_p.I75I|GLRX_ENST00000507605.1_5'UTR NM_002064.2 NP_002055.1 P35754 GLRX1_HUMAN glutaredoxin (thioltransferase) 75 Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}. NA cell redox homeostasis (GO:0045454)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of membrane potential (GO:0045838)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein deglutathionylation (GO:0080058)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634) electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|glutathione oxidoreductase activity (GO:0097573)|protein N-terminus binding (GO:0047485) endometrium(3)|large_intestine(1)|lung(1) 5 all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;2.62e-16) Glutathione(DB00143) AATCTTTACCAATAAAGACTC 0.443 NA NA G||| 1509 0.301318 0.3169 0.2752 5008 , , NA 19925 0.1716 NA 0.4135 False NA ,,, NA NA NA 2504 0.317 NA NA NA NA 0 G , 1469,2937 680.1+/-403.8 248,973,982 71 67 68 225,225 -6 0 5 dbSNP_52 68 3697,4903 620.4+/-397.1 811,2075,1414 no coding-synonymous,coding-synonymous GLRX NM_001118890.1,NM_002064.2 , 1059,3048,2396 GG,GA,AA 42.9884,33.3409,39.7201 , 75/107,75/107 95152313 5166,7840 2203 4300 6503 SO:0001819 synonymous_variant CCDS4078.1 5q14 2008-02-05 ENSG00000173221 ENSG00000173221 2745 4330 protein-coding gene gene with protein product 600443 NA 8838810 Standard NM_002064 NM_002064 NA Approved GRX, GRX1 uc021ybo.1 P35754 OTTHUMG00000121167 ENST00000379979.4:c.225T>C chr5.hg19:g.95152313A>G NA B2R4L2|Q3KQS1|Q6ICT1 hg19 CCDS4078.1 0.02 1.6519 ACCxATA COVERED NOVEL GLRX-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370267.1 4 14.742217 KEEP 0 0 0 49 1472 AA 1 0.999559 0 - 6 60 200 0 0 13.48122 78 60 2312 180 ENST00000379979.4 0.071429 0.999559 ERAP2 64167 __UNKNOWN__ __UNKNOWN__ 5 96231000 96231000 __UNKNOWN__ Missense_Mutation SNP G G T rs2549782 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:96231000G>T ENST00000437043.3 + 7 1887 c.1176G>T c.(1174-1176)aaG>aaT p.K392N ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.K347N NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 392 NA K -> N (in dbSNP:rs2549782). {ECO:0000269|PubMed:12799365, ECO:0000269|PubMed:15691326}. antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217) endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TTTGGCTTAAGGAGGGTTTTG 0.338 NA NA T||| 2768 0.552716 0.6014 0.5793 5008 , , NA 17747 0.5278 NA 0.5199 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 T ASN/LYS,ASN/LYS 2555,1851 538.1+/-374.9 724,1107,372 160 157 158 1176,1176 0.7 0.9 5 dbSNP_100 158 4481,4119 563.9+/-388.2 1151,2179,970 yes missense,missense ERAP2 NM_001130140.1,NM_022350.3 94,94 1875,3286,1342 TT,TG,GG 47.8953,42.0109,45.9019 benign,benign 392/961,392/961 96231000 7036,5970 2203 4300 6503 SO:0001583 missense AF191545 CCDS4086.1 5q15 2007-11-21 ENSG00000164308 ENSG00000164308 64167 29499 protein-coding gene gene with protein product leukocyte-derived arginine aminopeptidase 609497 NA 12799365, 15908954 Standard NM_022350 NM_022350 NA Approved L-RAP, LRAP uc003kmt.3 Q6P179 OTTHUMG00000128718 ENST00000437043.3:c.1176G>T chr5.hg19:g.96231000G>T ENSP00000400376:p.Lys392Asn NA Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2 hg19 CCDS4086.1 0.02 3.092688 TAAxGAG COVERED 1211|1211 0.5544871794871795|0.5544871794871795 272|272 0.5528455284552846|0.5528455284552846 212|212 0.585635359116022|0.585635359116022 331|331 0.5786713286713286|0.5786713286713286 396|396 0.5224274406332454|0.5224274406332454 T|T 0.707|0.707 -0.788574|-0.788574 0.02884|0.02884 0.579891|0.579891 0.521047|0.521047 ENSG00000164308|ENSG00000164308 ENST00000508077|ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904 .|T;T;T;T .|0.01430 .|4.9;4.9;4.9;4.9 4.74|4.74 0.68|0.68 0.17980|0.17980 .|Peptidase M1, membrane alanine aminopeptidase, N-terminal (2); .|0.137856 .|0.46145 .|N .|0.000315 .|T .|0.00012 .|0.0000 N|N 0.00057|0.00057 -2.355|-2.355 0.09310|0.09310 P|P 1.0|1.0 .|B;B .|0.02656 .|0.0;0.0 .|B;B .|0.04013 .|0.001;0.0 .|T .|0.15694 .|-1.0428 .|9 .|0.02654 .|T .|1 .|. 3.4516|3.4516 0.07501|0.07501 0.1238:0.072:0.2577:0.5466|0.1238:0.072:0.2577:0.5466 rs2549782;rs3734014;rs17407451;rs52790432;rs57875026;rs2549782|rs2549782;rs3734014;rs17407451;rs52790432;rs57875026;rs2549782 .|347;392 .|Q6P179-3;Q6P179 .|.;ERAP2_HUMAN X|N 99|392;392;392;347 .|ENSP00000400376:K392N;ENSP00000421175:K392N;ENSP00000421849:K392N;ENSP00000369235:K347N .|ENSP00000369235:K347N G|K +|+ 1|3 0|2 ERAP2|ERAP2 96256756|96256756 0.999000|0.999000 0.42202|0.42202 0.938000|0.938000 0.37757|0.37757 0.675000|0.675000 0.39556|0.39556 0.405000|0.405000 0.21015|0.21015 -0.325000|-0.325000 0.08577|0.08577 -1.735000|-1.735000 0.00691|0.00691 GGA|AAG NOVEL ERAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250623.2 7 18.660501 KEEP 0 0 0 62 2190 GG 1 0.999999 0 + 6 60 186 0 0 11.064315 117 60 4140 277 ENST00000437043.3 0.04878 0.999999 ERAP2 64167 __UNKNOWN__ __UNKNOWN__ 5 96244638 96244638 __UNKNOWN__ Intron SNP A A G rs2549795 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:96244638A>G ENST00000437043.3 + 14 2723 CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 NA NA antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217) endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) ATATGCACAAACCACTGACAT 0.363 NA NA A||| 2771 0.553315 0.6021 0.5807 5008 , , NA 18083 0.5278 NA 0.5199 False NA ,,, NA NA NA 2504 0.5286 NA NA NA NA 0 A , 2551,1855 625.0+/-394.4 724,1103,376 71 68 69 , 0 0 5 dbSNP_100 69 4486,4114 580.0+/-391.0 1155,2176,969 no intron,intron ERAP2 NM_001130140.1,NM_022350.3 , 1879,3279,1345 GG,GA,AA 47.8372,42.1017,45.8942 , , 96244638 7037,5969 2203 4300 6503 SO:0001627 intron_variant AF191545 CCDS4086.1 5q15 2007-11-21 ENSG00000164308 ENSG00000164308 64167 29499 protein-coding gene gene with protein product leukocyte-derived arginine aminopeptidase 609497 NA 12799365, 15908954 Standard NM_022350 NM_022350 NA Approved L-RAP, LRAP uc003kmt.3 Q6P179 OTTHUMG00000128718 ENST00000437043.3:c.2013-27A>G chr5.hg19:g.96244638A>G NA Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2 hg19 CCDS4086.1 0.02 1.777749 CAAxCCA COVERED NOVEL ERAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250623.2 4 15.949329 KEEP 0 0 0 53 1699 AA 1 0.999317 0 + 5 60 180 0 0 12.293869 74 60 2332 185 ENST00000437043.3 0.063291 0.999317 PPIP5K2 23262 __UNKNOWN__ __UNKNOWN__ 5 102538752 102538752 __UNKNOWN__ 3'UTR SNP T T C rs8488 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:102538752T>C ENST00000321521.9 + 0 5659 PPIP5K2_ENST00000358359.3_3'UTR|PPIP5K2_ENST00000414217.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 NA NA inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGATTTCACATGAATGTAAAT 0.299 NA NA T||| 1131 0.225839 0.093 0.2233 5008 , , NA 15393 0.4484 NA 0.2724 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007893 CCDS34207.1, CCDS64212.1, CCDS75283.1 5q21.1 2014-05-06 2010-01-26 2010-01-26 ENSG00000145725 ENSG00000145725 23262 2.7.4.24 29035 protein-coding gene gene with protein product 611648 histidine acid phosphatase domain containing 1 HISPPD1 NA 9455477, 17690096, 18981179 Standard NM_015216 NM_001276277 NA Approved KIAA0433, VIP2 uc003koe.4 O43314 OTTHUMG00000181461 ENST00000321521.9:c.*1417T>C chr5.hg19:g.102538752T>C NA A1NI53|A6NGS8|Q8TB50 hg19 CCDS34207.1 0.02 -0.350804 ACAxGAA COVERED NOVEL PPIP5K2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370485.2 3 6.920141 KEEP 0 0 0 23 698 TT 0.999892 0.877613 0 + 3 60 100 0 0 6.875832 35 60 1040 89 ENST00000321521.9 0.078947 0.877708 MAN2A1 4124 __UNKNOWN__ __UNKNOWN__ 5 109110591 109110591 __UNKNOWN__ Silent SNP G G A rs61735369 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:109110591G>A ENST00000261483.4 + 8 2351 c.1299G>A c.(1297-1299)acG>acA p.T433T NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 433 NA cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033) cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) GTGAATACACGGAATGGGATT 0.373 NA NA G||| 350 0.0698882 0.1452 0.0476 5008 , , NA 14544 0.0377 NA 0.0696 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 G 503,3901 229.4+/-244.0 26,451,1725 73 74 74 1299 -3.2 0 5 dbSNP_129 74 519,8079 145.9+/-201.5 11,497,3791 no coding-synonymous MAN2A1 NM_002372.2 37,948,5516 AA,AG,GG 6.0363,11.4214,7.8603 433/1145 109110591 1022,11980 2202 4299 6501 SO:0001819 synonymous_variant CCDS34209.1 5q21.3 2013-09-20 ENSG00000112893 ENSG00000112893 4124 3.2.1.114 6824 protein-coding gene gene with protein product golgi integral membrane protein 7 154582 MANA2 NA 1757461, 15004235 Standard NM_002372 NA Approved GOLIM7 uc003kou.1 Q16706 OTTHUMG00000162834 ENST00000261483.4:c.1299G>A chr5.hg19:g.109110591G>A NA Q16767 hg19 CCDS34209.1 0.02 1.315734 CACxGAA COVERED NOVEL MAN2A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370680.1 4 17.75537 KEEP 0 0 0 59 1990 GG 1 0.998867 0 + 5 60 155 0 0 9.88534 71 60 2343 191 ENST00000261483.4 0.065789 0.998867 TSLP 85480 __UNKNOWN__ __UNKNOWN__ 5 110412585 110412585 __UNKNOWN__ 3'UTR SNP A A G rs11466749 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:110412585A>G ENST00000379706.4 + 0 1274 NM_138551.4 NP_612561.2 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin NA NA extracellular space (GO:0005615) breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) ACCTCCACTCATCCTTAGAGC 0.408 NA NA A||| 742 0.148163 0.112 0.0793 5008 , , NA 15615 0.0784 NA 0.17 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC040592 CCDS4101.1 5q22.1 2007-08-24 ENSG00000145777 ENSG00000145777 85480 30743 protein-coding gene gene with protein product 607003 NA 11418668, 11480573 Standard NM_033035 NM_033035 NA Approved uc003kpb.2 Q969D9 OTTHUMG00000128791 ENST00000379706.4:c.*813A>G chr5.hg19:g.110412585A>G NA Q8IW99 hg19 0.02 1.537758 CTCxTCC COVERED NOVEL TSLP-003 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000372500.2 6 7.221102 KEEP 0 0 0 24 730 AA 0.999909 0.992004 0 + 4 60 129 0 0 8.401228 57 60 1687 113 ENST00000379706.4 0.065574 0.992094 PGGT1B 5229 __UNKNOWN__ __UNKNOWN__ 5 114546906 114546906 __UNKNOWN__ 3'UTR SNP C C T rs265421 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:114546906C>T ENST00000419445.1 - 0 2347 NM_005023.3 NP_005014.2 P53609 PGTB1_HUMAN protein geranylgeranyltransferase type I, beta subunit NA NA negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097) CAAX-protein geranylgeranyltransferase complex (GO:0005953) CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) GAGCAAGTAACGGATATGAGT 0.313 NA NA T||| 3852 0.769169 0.9584 0.6066 5008 , , NA 16092 0.8393 NA 0.6332 False NA ,,, NA NA NA 2504 0.6963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4116.1 5q23.1 2008-02-05 ENSG00000164219 ENSG00000164219 5229 8895 protein-coding gene gene with protein product 602031 NA 8106351 Standard NM_005023 NM_005023 NA Approved GGTI, BGGI uc003kqw.4 P53609 OTTHUMG00000128893 ENST00000419445.1:c.*1193G>A chr5.hg19:g.114546906C>T NA Q5MJP9 hg19 CCDS4116.1 0.02 1.256876 TAAxGGA COVERED NOVEL PGGT1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250855.2 5 12.640621 KEEP 0 0 0 42 1437 CC 1 0.999919 0 - 7 60 220 0 0 14.56093 86 60 2872 203 ENST00000419445.1 0.075269 0.999919 AP3S1 1176 __UNKNOWN__ __UNKNOWN__ 5 115249078 115249078 __UNKNOWN__ Missense_Mutation SNP C C T rs7733604 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:115249078C>T ENST00000316788.7 + 6 1030 c.473C>T c.(472-474)cCa>cTa p.P158L AP3S1_ENST00000505423.1_3'UTR NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 158 NA P -> L (in dbSNP:rs7733604). anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886) AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133) protein transporter activity (GO:0008565)|transporter activity (GO:0005215) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) GCAGGAGCTCCAGCCCGTGCT 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 58 60 59 NA NA 5 NA 115249078 2202 4300 6502 SO:0001583 missense D63643 CCDS4123.1 5q22 2010-06-29 ENSG00000177879 ENSG00000177879 1176 2013 protein-coding gene gene with protein product 601507 CLAPS3 NA 8697810, 9118953 Standard NM_001284 NA Approved uc003krl.3 Q92572 OTTHUMG00000128887 ENST00000316788.7:c.473C>T chr5.hg19:g.115249078C>T ENSP00000325369:p.Pro158Leu NA O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2 hg19 CCDS4123.1 0.02 1.429676 CTCxAGC COVERED 494 0.2261904761904762 130 0.26422764227642276 77 0.212707182320442 99 0.17307692307692307 188 0.24802110817941952 C 15.31 2.795436 0.50208 . . ENSG00000177879 ENST00000316788 T 0.46063 0.88 6.05 5.17 0.71159 . 0.161410 0.56097 D 0.000028 T 0.00012 0.0000 M 0.75777 2.31 0.09310 P 0.99999999918701 B;B 0.20671 0.047;0.047 B;B 0.20384 0.029;0.029 T 0.04268 -1.0964 9 0.48119 T 0.1 -15.07 16.3644 0.83308 0.1331:0.8669:0.0:0.0 rs7733604;rs13163962;rs61457466;rs7733604 158;158 B2R4I8;Q92572 .;AP3S1_HUMAN L 158 ENSP00000325369:P158L ENSP00000325369:P158L P + 2 0 AP3S1 115276977 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.728000 0.84847 1.540000 0.49301 0.650000 0.86243 CCA NOVEL AP3S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250847.2 7 5.752756 KEEP 0 1 31 30 1041 CC 0.999997 0.992923 0 + 7 60 213 0 0 15.152274 55 60 1912 138 ENST00000316788.7 0.112903 0.992926 DMXL1 1657 __UNKNOWN__ __UNKNOWN__ 5 118532034 118532034 __UNKNOWN__ Intron SNP A A C rs6595178 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:118532034A>C ENST00000311085.8 + 31 7537 DMXL1_ENST00000539542.1_Intron NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 NA NA breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ctatagaaatagttaaCAGAT 0.373 NA NA C||| 3556 0.710064 0.5825 0.7075 5008 , , NA 19722 0.9583 NA 0.6064 False NA ,,, NA NA NA 2504 0.7352 NA NA NA NA 0 C 2665,1739 519.1+/-369.9 811,1043,348 141 132 135 -4.5 0 5 dbSNP_116 135 5389,3211 483.9+/-371.3 1696,1997,607 no intron DMXL1 NM_005509.4 2507,3040,955 CC,CA,AA 37.3372,39.4868,38.0652 118532034 8054,4950 2202 4300 6502 SO:0001627 intron_variant AJ005821 CCDS4125.1, CCDS75289.1 5q22 2013-01-10 ENSG00000172869 ENSG00000172869 1657 WD repeat domain containing 2937 protein-coding gene gene with protein product 605671 NA 10708522 Standard NM_005509 NM_005509 NA Approved uc003ksd.2 Q9Y485 OTTHUMG00000128898 ENST00000311085.8:c.7458-32A>C chr5.hg19:g.118532034A>C NA hg19 CCDS4125.1 0.02 1.578601 AATxGTT COVERED NOVEL DMXL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250862.1 6 11.687282 KEEP 0 0 0 39 1174 AA 1 0.999317 0 + 5 60 161 0 0 10.397715 74 60 2234 174 ENST00000311085.8 0.063291 0.999317 TNFAIP8 25816 __UNKNOWN__ __UNKNOWN__ 5 118728953 118728953 __UNKNOWN__ Silent SNP G G C rs3203922 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:118728953G>C ENST00000503646.1 + 3 1162 c.474G>C c.(472-474)gtG>gtC p.V158V TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Silent_p.V170V|TNFAIP8_ENST00000274456.6_Silent_p.V148V|TNFAIP8_ENST00000504642.1_Silent_p.V160V|TNFAIP8_ENST00000504771.2_Silent_p.V158V O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 158 NA defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154) cytoplasm (GO:0005737) cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027) ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) TTAATAATGTGTTTGATCATT 0.388 NA NA C||| 1348 0.269169 0.4039 0.2767 5008 , , NA 19648 0.1151 NA 0.2604 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 C , 1543,2325 302,939,693 99 101 101 444,474 3.8 1 5 dbSNP_105 101 2189,6151 266,1657,2247 no coding-synonymous,coding-synonymous TNFAIP8 NM_001077654.1,NM_014350.2 , 568,2596,2940 CC,CG,GG 26.247,39.8914,30.5701 , 148/189,158/199 118728953 3732,8476 1934 4170 6104 SO:0001819 synonymous_variant AF070671 CCDS47257.1, CCDS47258.1, CCDS68933.1 5q23.1 2008-02-05 ENSG00000145779 ENSG00000145779 25816 17260 protein-coding gene gene with protein product 612111 NA 10233894, 10644768 Standard NM_014350 NM_001286813 NA Approved GG2-1, MDC-3.13, SCC-S2 uc003ksi.3 O95379 OTTHUMG00000162949 ENST00000503646.1:c.474G>C chr5.hg19:g.118728953G>C NA B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47 hg19 CCDS47258.1 0.02 3.745164 TGTxTTT COVERED NOVEL TNFAIP8-002 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000371134.2 2 22.271902 KEEP 0 0 0 74 2611 GG 1 1 0 + 5 60 169 0 0 10.144633 122 60 4255 301 ENST00000503646.1 0.03937 1 SRFBP1 153443 __UNKNOWN__ __UNKNOWN__ 5 121311098 121311098 __UNKNOWN__ Intron SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:121311098G>T ENST00000339397.4 + 3 270 NM_152546.2 NP_689759.2 serum response factor binding protein 1 NA NA central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) GACTTGTGTGGGTGTGTATGT 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 101 97 98 NA NA 5 NA 121311098 1941 4142 6083 SO:0001627 intron_variant AK058015 CCDS43354.1 5q23.1 2006-12-21 ENSG00000151304 153443 26333 protein-coding gene gene with protein product BUD22 homolog (S. cerevisiae) 610479 NA 15492011 Standard NM_152546 NM_152546 NA Approved FLJ25286, p49, STRAP, BUD22, Rlb1 uc003kst.1 Q8NEF9 ENST00000339397.4:c.198+16G>T chr5.hg19:g.121311098G>T NA hg19 CCDS43354.1 0.02 7.895716 GTGxGTG COVERED NOVEL SRFBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371200.1 86 15.394073 KEEP 0 10 298 156 5453 GG 1 1 0 + 13 60 391 0 0 23.215192 234 60 8302 636 ENST00000339397.4 0.052632 1 PPIC 5480 __UNKNOWN__ __UNKNOWN__ 5 122359609 122359609 __UNKNOWN__ Silent SNP G G A rs147714588 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:122359609G>A ENST00000306442.4 - 5 715 c.600C>T c.(598-600)gaC>gaT p.D200D NM_000943.4 NP_000934.1 P45877 PPIC_HUMAN peptidylprolyl isomerase C (cyclophilin C) 200 NA protein folding (GO:0006457) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) GCGTTTTCACGTCTATCTTGC 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(99;690 1502 20765 45543 49568) NA 0 G 6,4400 11.4+/-27.6 0,6,2197 277 248 258 600 -6.8 0.8 5 dbSNP_134 258 0,8600 0,0,4300 no coding-synonymous PPIC NM_000943.4 0,6,6497 AA,AG,GG 0.0,0.1362,0.0461 200/213 122359609 6,13000 2203 4300 6503 SO:0001819 synonymous_variant S71018 CCDS4133.1 5q23.2 2008-02-05 ENSG00000168938 ENSG00000168938 5480 5.2.1.8 9256 protein-coding gene gene with protein product 123842 NA 1383094, 8031755 Standard NM_000943 NM_000943 NA Approved CYPC uc003kth.3 P45877 OTTHUMG00000128921 ENST00000306442.4:c.600C>T chr5.hg19:g.122359609G>A NA A4LBB5 hg19 CCDS4133.1 0.02 6.601668 CACxTCT COVERED NOVEL PPIC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250898.2 78 44.006183 KEEP 0 2 56 166 5620 GG 1 1 0 - 10 60 285 0 0 14.625088 268 60 8893 564 ENST00000306442.4 0.035971 1 PHAX 51808 __UNKNOWN__ __UNKNOWN__ 5 125950735 125950735 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:125950735A>G ENST00000297540.4 + 4 1526 NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export NA NA gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387) cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) RNA binding (GO:0003723)|toxic substance binding (GO:0015643) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 gagccaccgtacccggccCTA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023255 CCDS4138.1 5q23.2 2011-05-24 2008-10-01 2008-10-01 ENSG00000164902 ENSG00000164902 51808 10241 protein-coding gene gene with protein product 604924 RNA U, small nuclear RNA export adaptor (phosphorylation regulated) RNUXA NA 10786834 Standard NM_032177 NM_032177 NA Approved FLJ13193 uc003kua.2 Q9H814 OTTHUMG00000163273 ENST00000297540.4:c.832-2207A>G chr5.hg19:g.125950735A>G NA Q9H8W1 hg19 CCDS4138.1 0.02 -0.271846 CGTxCCC COVERED NOVEL PHAX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250924.1 7 3.609276 KEEP 1 0 0 12 346 AA 0.993634 0.712749 0 + 3 60 103 0 0 7.592478 25 60 707 67 ENST00000297540.4 0.107143 0.717315 C5orf56 441108 __UNKNOWN__ __UNKNOWN__ 5 131806169 131806169 __UNKNOWN__ 3'UTR SNP G G A rs35194480 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:131806169G>A ENST00000407797.1 + 0 649 AC116366.6_ENST00000443093.2_RNA|C5orf56_ENST00000378953.4_Intron Q8N8D9 CE056_HUMAN chromosome 5 open reading frame 56 NA NA breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 CAGAATACAAGGAAGAAAATA 0.493 NA NA OREG0003459 type=REGULATORY REGION|Gene=AL713721|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay G||| 1056 0.210863 0.3623 0.1383 5008 , , NA 21966 0.2708 NA 0.1342 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC130299 5q31.1 2009-04-20 ENSG00000197536 ENSG00000197536 441108 33838 protein-coding gene gene with protein product NA NA Standard NM_001013717 NR_045116 NA Approved uc010jds.2 Q8N8D9 OTTHUMG00000059493 ENST00000407797.1:c.*412G>A chr5.hg19:g.131806169G>A 1590 A1L3V9|A6NKA0 hg19 0.02 -0.412316 CAAxGAA COVERED NOVEL C5orf56-005 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000132333.2 3 8.427392 KEEP 0 0 0 28 989 GG 0.999997 0.941738 0 + 4 60 128 0 0 8.809424 42 60 1460 105 ENST00000407797.1 0.086957 0.941741 WDR55 54853 __UNKNOWN__ __UNKNOWN__ 5 140050607 140050607 __UNKNOWN__ 3'UTR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:140050607G>C ENST00000358337.5 + 0 2757 DND1_ENST00000542735.1_3'UTR|WDR55_ENST00000520764.1_Intron NM_017706.4 NP_060176 Q9H6Y2 WDR55_HUMAN WD repeat domain 55 NA NA rRNA processing (GO:0006364) cytoplasm (GO:0005737)|nucleolus (GO:0005730) NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCGGGTGGGGGTGGGACAA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000202 CCDS4235.1 5q31.3 2013-01-09 ENSG00000120314 ENSG00000120314 54853 WD repeat domain containing 25971 protein-coding gene gene with protein product NA NA 12477932 Standard NM_017706 NM_017706 NA Approved FLJ20195, FLJ21702 uc003lgr.4 Q9H6Y2 OTTHUMG00000129506 ENST00000358337.5:c.*1368G>C chr5.hg19:g.140050607G>C NA Q9NXK4 hg19 CCDS4235.1 0.02 1.789755 TGGxGGT COVERED NOVEL WDR55-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251680.3 3 4.983875 KEEP 27 2 58 37 1248 GG 0.999997 0.999859 0 + 5 27 164 0 0 10.386151 86 60 2924 183 ENST00000358337.5 0.054945 0.999862 KCTD16 57528 __UNKNOWN__ __UNKNOWN__ 5 143855248 143855248 __UNKNOWN__ 3'UTR SNP A A G rs575163279 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:143855248A>G ENST00000507359.3 + 0 3949 NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 NA NA protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277) cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235) large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GCATGTGTGTATGTGTATCAC 0.333 NA NA A||| 1 0.000199681 0 0 5008 , , NA 20386 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037738 CCDS34260.1 5q32 2013-06-20 2013-06-20 ENSG00000183775 ENSG00000183775 57528 29244 protein-coding gene gene with protein product 613423 potassium channel tetramerisation domain containing 16 NA 10718198 Standard XM_098368 NM_020768 NA Approved KIAA1317 uc003lnm.1 Q68DU8 OTTHUMG00000163172 ENST00000507359.3:c.*1571A>G chr5.hg19:g.143855248A>G NA Q9P2M9 hg19 CCDS34260.1 0.02 -0.420941 TGTxTGT COVERED NOVEL KCTD16-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371898.3 8 7.521411 KEEP 0 0 0 25 745 AA 0.999931 0.948336 0 + 3 60 101 0 0 6.717841 43 60 1253 102 ENST00000507359.3 0.065217 0.948402 STK32A 202374 __UNKNOWN__ __UNKNOWN__ 5 146764068 146764068 __UNKNOWN__ 3'UTR SNP C C T rs79658249 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:146764068C>T ENST00000398523.3 + 0 1464 STK32A_ENST00000397936.3_3'UTR Q8WU08 ST32A_HUMAN serine/threonine kinase 32A NA NA ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAATGGAATCAGATTAAAAG 0.458 NA NA C||| 51 0.0101837 0 0.0173 5008 , , NA 15854 0 NA 0.0328 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS47299.1, CCDS75351.1 5q32 2008-02-05 ENSG00000169302 ENSG00000169302 202374 28317 protein-coding gene gene with protein product NA NA 12477932 Standard NM_145001 NM_001112724 NA Approved MGC22688, YANK1 uc010jgn.1 Q8WU08 OTTHUMG00000163411 ENST00000398523.3:c.*69C>T chr5.hg19:g.146764068C>T NA B3KSY0 hg19 0.02 1.12022 AATxAGA COVERED NOVEL STK32A-001 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000373237.2 7 13.877635 KEEP 0 1 25 55 1915 CC 1 0.999768 0 + 5 60 148 0 0 8.886695 82 60 2814 189 ENST00000398523.3 0.057471 0.999768 GRPEL2 134266 __UNKNOWN__ __UNKNOWN__ 5 148729348 148729348 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:148729348T>C ENST00000416916.2 + 3 269 GRPEL2_ENST00000513661.1_Silent_p.L121L|GRPEL2_ENST00000507562.1_Intron|GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000329271.3_Intron Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial (E. coli) NA NA cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626) mitochondrial inner membrane (GO:0005743) adenyl-nucleotide exchange factor activity (GO:0000774) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) cacagtggcttatgcctgtaa 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 31 32 32 NA NA 5 NA 148729348 2203 4298 6501 SO:0001627 intron_variant AL832325 CCDS4295.1 5q33.1 2008-02-05 ENSG00000164284 ENSG00000164284 134266 21060 protein-coding gene gene with protein product NA NA Standard NM_152407 NM_152407 NA Approved DKFZp451C205, Mt-GrpE#2, FLJ23713 uc003lqj.3 Q8TAA5 OTTHUMG00000130048 ENST00000416916.2:c.232-1133T>C chr5.hg19:g.148729348T>C NA B4DFA6|Q49AJ6 hg19 0.02 5.604983 GCTxATG COVERED NOVEL GRPEL2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000373491.1 26 7.349498 KEEP 0 7 236 107 3062 TT 1 1 0 + 10 60 336 0 0 21.919565 158 60 4531 396 ENST00000416916.2 0.059524 1 DCTN4 51164 __UNKNOWN__ __UNKNOWN__ 5 150135880 150135880 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:150135880C>T ENST00000446090.2 - 2 248 DCTN4_ENST00000447998.2_Intron|DCTN4_ENST00000521093.1_Intron|DCTN4_ENST00000424236.1_Intron NM_001135643.1 NP_001129115.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634) protein N-terminus binding (GO:0047485) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ggattacaggcgtgagccacc 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF195120 CCDS4310.1, CCDS47310.1, CCDS47311.1 5q31-q32 2008-05-23 ENSG00000132912 ENSG00000132912 51164 15518 protein-coding gene gene with protein product 614758 NA 10843801, 16554302 Standard NM_016221 NA Approved uc010jhi.3 Q9UJW0 OTTHUMG00000130079 ENST00000446090.2:c.206+98G>A chr5.hg19:g.150135880C>T NA B3KWW0|D3DQH0|E5RGT5|Q8TAN8 hg19 CCDS47310.1 0.02 1.216735 AGGxGTG COVERED NOVEL DCTN4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000374557.1 12 9.163499 KEEP 0 1 30 41 1397 CC 1 0.998993 0 - 6 60 169 0 0 10.775085 67 60 2280 150 ENST00000446090.2 0.082192 0.998993 FAT2 2196 __UNKNOWN__ __UNKNOWN__ 5 150945483 150945483 __UNKNOWN__ Missense_Mutation SNP C C T rs3734055 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:150945483C>T ENST00000261800.5 - 1 3022 c.3010G>A c.(3010-3012)Ggt>Agt p.G1004S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1004 Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA G -> S (in dbSNP:rs3734055). epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156) cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCCTCCCACCATCACTGGCC 0.597 NA NA T||| 2016 0.402556 0.3767 0.4524 5008 , , NA 17724 0.3571 NA 0.4901 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 T SER/GLY 1713,2693 641.3+/-397.4 335,1043,825 44 37 39 3010 3.2 1 5 dbSNP_107 39 4496,4104 554.9+/-386.6 1181,2134,985 yes missense FAT2 NM_001447.2 56 1516,3177,1810 TT,TC,CC 47.7209,38.8788,47.7395 benign 1004/4350 150945483 6209,6797 2203 4300 6503 SO:0001583 missense AF231022 CCDS4317.1 5q33.1 2014-07-21 2013-05-31 ENSG00000086570 ENSG00000086570 2196 Cadherins / Cadherin-related 3596 protein-coding gene gene with protein product cadherin-related family member 9 604269 FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila) NA 9693030 Standard NM_001447 NM_001447 NA Approved MEGF1, CDHF8, HFAT2, CDHR9 uc003lue.4 Q9NYQ8 OTTHUMG00000130126 ENST00000261800.5:c.3010G>A chr5.hg19:g.150945483C>T ENSP00000261800:p.Gly1004Ser NA O75091|Q9NSR7 hg19 CCDS4317.1 0.02 4.336745 CACxATC COVERED 935 0.4281135531135531 204 0.4146341463414634 161 0.4447513812154696 202 0.3531468531468531 368 0.48548812664907653 T 9.338 1.062294 0.19987 0.388788 0.522791 ENSG00000086570 ENST00000261800 T 0.50001 0.76 5.53 3.19 0.36642 Cadherin (4);Cadherin-like (1); 0.327956 0.30464 N 0.009564 T 0.00012 0.0000 L 0.39397 1.21 0.49798 P 1.7800000000001148E-4 B 0.06786 0.001 B 0.12156 0.007 T 0.47535 -0.9110 9 0.06236 T 0.91 . 4.9317 0.13921 0.0:0.3749:0.1616:0.4635 rs3734055;rs52828169;rs3734055 1004 Q9NYQ8 FAT2_HUMAN S 1004 ENSP00000261800:G1004S ENSP00000261800:G1004S G - 1 0 FAT2 150925676 0.146000 0.22672 0.999000 0.59377 0.963000 0.63663 0.364000 0.20325 0.402000 0.25451 -0.254000 0.11334 GGT NOVEL FAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252434.1 3 29.829594 KEEP 0 1 31 110 3878 CC 1 1 0 - 7 60 209 0 0 11.719882 156 60 5474 385 ENST00000261800.5 0.042945 1 FAT2 2196 __UNKNOWN__ __UNKNOWN__ 5 150948016 150948016 __UNKNOWN__ Silent SNP C C T rs3734062 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:150948016C>T ENST00000261800.5 - 1 489 c.477G>A c.(475-477)gaG>gaA p.E159E NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 159 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156) cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGGCATGTCCTCAGAGATGG 0.517 NA NA C||| 256 0.0511182 0.003 0.062 5008 , , NA 23257 0.0774 NA 0.0865 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 C 66,4340 62.3+/-99.4 0,66,2137 138 126 130 477 2.5 1 5 dbSNP_107 130 571,8029 154.2+/-208.4 15,541,3744 no coding-synonymous FAT2 NM_001447.2 15,607,5881 TT,TC,CC 6.6395,1.498,4.8977 159/4350 150948016 637,12369 2203 4300 6503 SO:0001819 synonymous_variant AF231022 CCDS4317.1 5q33.1 2014-07-21 2013-05-31 ENSG00000086570 ENSG00000086570 2196 Cadherins / Cadherin-related 3596 protein-coding gene gene with protein product cadherin-related family member 9 604269 FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila) NA 9693030 Standard NM_001447 NM_001447 NA Approved MEGF1, CDHF8, HFAT2, CDHR9 uc003lue.4 Q9NYQ8 OTTHUMG00000130126 ENST00000261800.5:c.477G>A chr5.hg19:g.150948016C>T NA O75091|Q9NSR7 hg19 CCDS4317.1 0.02 1.324399 GTCxTCA COVERED NOVEL FAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252434.1 2 9.631412 KEEP 0 0 0 32 1126 CC 0.999997 0.998693 0 - 6 60 182 0 0 11.954187 70 60 2437 155 ENST00000261800.5 0.078947 0.998696 FAXDC2 10826 __UNKNOWN__ __UNKNOWN__ 5 154199306 154199306 __UNKNOWN__ 3'UTR SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:154199306T>G ENST00000326080.5 - 0 1995 NM_032385.3 NP_115761.2 Q96IV6 FXDC2_HUMAN fatty acid hydroxylase domain containing 2 NA NA fatty acid biosynthetic process (GO:0006633) integral component of membrane (GO:0016021) iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491) NA GTGTGTATGTTTGTGTGTGTG 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF159165 CCDS43390.1 5q31-q32 2013-03-04 2013-03-04 2013-03-04 ENSG00000170271 ENSG00000170271 10826 Fatty acid hydroxylase domain containing 1334 protein-coding gene gene with protein product NA chromosome 5 open reading frame 4 C5orf4 NA 10843801 Standard NM_032385 NM_032385 NA Approved FLJ13758 uc003lvs.4 Q96IV6 OTTHUMG00000164141 ENST00000326080.5:c.*570A>C chr5.hg19:g.154199306T>G NA B4DIE1|Q9BSX6|Q9H8C7 hg19 CCDS43390.1 0.02 3.754302 TGTxTGT COVERED NOVEL FAXDC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377429.1 17 2.606569 KEEP 0 3 104 45 1298 TT 1 1 0 - 9 60 311 0 0 21.62085 108 60 3243 249 ENST00000326080.5 0.076923 1 GABRB2 2561 __UNKNOWN__ __UNKNOWN__ 5 160763792 160763792 __UNKNOWN__ Intron SNP T T C rs375806554|rs141330383 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:160763792T>C ENST00000393959.1 - 6 541 GABRB2_ENST00000274547.2_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517547.1_Intron P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 NA NA cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) AAAGGaaacatacacacacac 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 80 75 77 NA NA 5 NA 160763792 2203 4300 6503 SO:0001627 intron_variant CCDS4354.1, CCDS4355.1 5q34 2012-06-22 ENSG00000145864 ENSG00000145864 2561 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4082 protein-coding gene gene with protein product GABA(A) receptor, beta 2 600232 NA 7851879 Standard NM_000813 NA Approved uc003lys.1 P47870 OTTHUMG00000130349 ENST00000393959.1:c.542-16A>G chr5.hg19:g.160763792T>C NA A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2 hg19 CCDS4355.1 0.02 1.643988 ACAxACA COVERED NOVEL GABRB2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252704.1 32 9.064367 KEEP 0 1 36 43 1229 TT 1 0.999622 0 - 4 60 142 2 0 9.239415 75 60 2122 189 ENST00000393959.1 0.050633 0.999622 DOCK2 1794 __UNKNOWN__ __UNKNOWN__ 5 169461399 169461399 __UNKNOWN__ Intron SNP G G A rs3763047 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:169461399G>A ENST00000520908.1 + 21 2107 DOCK2_ENST00000256935.8_Intron|DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000523351.1_Intron Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 NA NA actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTCTCTGCCGCAGCCTGATG 0.577 NA NA A||| 2500 0.499201 0.643 0.3127 5008 , , NA 16794 0.6052 NA 0.332 False NA ,,, NA NA NA 2504 0.5 NA NA NA NA 0 A 2644,1762 523.6+/-371.1 784,1076,343 70 67 68 -8.6 0 5 dbSNP_107 68 2860,5740 673.6+/-403.0 459,1942,1899 no intron DOCK2 NM_004946.2 1243,3018,2242 AA,AG,GG 33.2558,39.9909,42.3189 169461399 5504,7502 2203 4300 6503 SO:0001627 intron_variant BC016996 CCDS4371.1 5q35.1 2008-02-05 ENSG00000134516 ENSG00000134516 1794 2988 protein-coding gene gene with protein product 603122 dedicator of cyto-kinesis 2 NA Standard NM_004946 NM_004946 NA Approved KIAA0209 uc003maf.3 Q92608 OTTHUMG00000130437 ENST00000520908.1:c.1944-4G>A chr5.hg19:g.169461399G>A NA Q2M3I0|Q96AK7 hg19 0.02 4.605078 GCCxCAG COVERED NOVEL DOCK2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000371643.1 9 22.793154 KEEP 0 1 29 86 2847 GG 1 1 0 + 9 60 268 0 0 16.172114 147 60 5036 336 ENST00000520908.1 0.057692 1 DOCK2 1794 __UNKNOWN__ __UNKNOWN__ 5 169510190 169510190 __UNKNOWN__ 3'UTR SNP T T C rs1045192 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:169510190T>C ENST00000520908.1 + 0 4461 DOCK2_ENST00000256935.8_3'UTR|DOCK2_ENST00000540750.1_3'UTR|DOCK2_ENST00000523351.1_3'UTR Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 NA NA actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAAGAAACTGTTTTTATCTCA 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC016996 CCDS4371.1 5q35.1 2008-02-05 ENSG00000134516 ENSG00000134516 1794 2988 protein-coding gene gene with protein product 603122 dedicator of cyto-kinesis 2 NA Standard NM_004946 NM_004946 NA Approved KIAA0209 uc003maf.3 Q92608 OTTHUMG00000130437 ENST00000520908.1:c.*328T>C chr5.hg19:g.169510190T>C NA Q2M3I0|Q96AK7 hg19 0.02 -0.306991 CTGxTTT COVERED NOVEL DOCK2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000371643.1 3 5.716201 KEEP 0 0 0 19 577 TT 0.99986 0.800133 0 + 4 60 141 0 0 10.608001 31 60 961 76 ENST00000520908.1 0.114286 0.800245 CDHR2 54825 __UNKNOWN__ __UNKNOWN__ 5 176005175 176005175 __UNKNOWN__ Intron SNP A A C rs1565150 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:176005175A>C ENST00000510636.1 + 15 1848 CDHR2_ENST00000506348.1_Intron|CDHR2_ENST00000261944.5_Intron NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 NA NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308) cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CAGAGAtagaatagctgggga 0.498 NA NA A||| 2498 0.498802 0.4032 0.6614 5008 , , NA 22122 0.37 NA 0.667 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB047004 CCDS34297.1 5q35.2 2011-07-01 2010-01-25 2010-01-25 ENSG00000074276 54825 Cadherins / Cadherin-related 18231 protein-coding gene gene with protein product protocadherin LKC NA protocadherin 24 PCDH24 NA 11082270, 12117771 Standard NM_017675 NM_001171976 NA Approved PC-LKC, FLJ20124, FLJ20383, PCLKC uc003mem.2 Q9BYE9 ENST00000510636.1:c.1574+79A>C chr5.hg19:g.176005175A>C NA A1L3U4|A6NC80|Q9NXP8 hg19 CCDS34297.1 0.02 2.152797 AGAxTAG COVERED NOVEL CDHR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372201.1 4 9.920202 KEEP 0 0 0 33 984 AA 0.999998 0.98954 0 + 4 60 148 0 0 10.328346 56 60 1665 128 ENST00000510636.1 0.066667 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 176784777 176784777 __UNKNOWN__ IGR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:176784777C>T NA NA LMAN2 (5924 upstream) : RGS14 (60 downstream) NA NA NA tgtgtgtgtgcgcgtgtgtgt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.176784777C>T NA hg19 0.02 1.155292 GTGxGCG COVERED NOVEL 0 16 6.488519 KEEP 0 2 58 42 1423 CC 1 0.999559 0 6 60 179 0 1 11.55077 73 70 2525 172 0.075949 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 176784779 176784779 __UNKNOWN__ IGR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:176784779C>T NA NA LMAN2 (5926 upstream) : RGS14 (58 downstream) NA NA NA tgtgtgtgcgcgtgtgtgtgt 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr5.hg19:g.176784779C>T NA hg19 0.02 1.210468 GCGxGTG COVERED NOVEL 0 17 4.215354 KEEP 0 3 85 44 1513 CC 1 0.999804 0 6 60 175 0 1 10.987578 78 70 2704 180 0.071429 0.999804 ADAMTS2 9509 __UNKNOWN__ __UNKNOWN__ 5 178538472 178538472 __UNKNOWN__ 3'UTR SNP G G A rs3797615 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr5:178538472G>A ENST00000251582.7 - 0 6133 NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 NA NA collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGGACCATCCGGCTCTAGAGG 0.547 NA NA G||| 1734 0.346246 0.3608 0.2507 5008 , , NA 21104 0.4236 NA 0.3062 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ003125 CCDS4444.1, CCDS34311.1 5q23-q24 2008-07-18 2005-08-19 ENSG00000087116 ENSG00000087116 9509 ADAM metallopeptidases with thrombospondin type 1 motif 218 protein-coding gene gene with protein product procollagen I N-proteinase, procollagen N-endopeptidase 604539 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2 NA 10094461, 15373769 Standard NM_014244 NM_014244 NA Approved ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI uc003mjw.3 O95450 OTTHUMG00000130915 ENST00000251582.7:c.*2396C>T chr5.hg19:g.178538472G>A NA hg19 CCDS4444.1 0.02 1.370978 TCCxGCT COVERED NOVEL ADAMTS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253507.1 5 18.358311 KEEP 0 0 0 61 2056 GG 1 0.999407 0 - 6 60 175 1 0 11.088021 75 60 2469 201 ENST00000251582.7 0.074074 0.999407 IRF4 3662 __UNKNOWN__ __UNKNOWN__ 6 410848 410848 __UNKNOWN__ 3'UTR SNP A A G rs2316515 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:410848A>G ENST00000380956.4 + 0 4732 NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337) cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634) protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GGCCAGCTGCATCTGTCTGAA 0.458 NA NA T IGH@ MM A||| 2477 0.494609 0.3124 0.5706 5008 , , NA 20494 0.5784 NA 0.5686 False NA ,,, NA NA NA 2504 0.5245 NA NA NA Dom yes 6 6p25-p23 3662 interferon regulatory factor 4 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U52682 CCDS4469.1 6p25-p23 2008-08-29 ENSG00000137265 ENSG00000137265 3662 6119 protein-coding gene gene with protein product 601900 MUM1 NA 8921401, 18417578 Standard NM_002460 NA Approved LSIRF uc003msz.4 Q15306 OTTHUMG00000016294 ENST00000380956.4:c.*3250A>G chr6.hg19:g.410848A>G NA Q5VUI7|Q99660 hg19 CCDS4469.1 0.02 1.856764 TGCxTCT COVERED NOVEL IRF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043638.1 3 7.218411 KEEP 0 0 0 24 713 AA 0.999909 0.997463 0 + 5 60 169 0 0 11.4353 66 60 2008 134 ENST00000380956.4 0.070423 0.997553 SLC35B3 51000 __UNKNOWN__ __UNKNOWN__ 6 8430049 8430049 __UNKNOWN__ Intron SNP G G A rs6918877 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:8430049G>A ENST00000379660.4 - 3 747 SLC35B3_ENST00000426876.1_Intron|SLC35B3_ENST00000339306.5_Intron NM_001142540.1|NM_001142541.1|NM_015948.3 NP_001136012.1|NP_001136013.1|NP_057032.2 Q9H1N7 S35B3_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 NA NA 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1) 15 Ovarian(93;0.0569) CATACTGACCGCAATTATTAT 0.294 NA NA G||| 2695 0.538139 0.7224 0.5245 5008 , , NA 15848 0.4246 NA 0.4175 False NA ,,, NA NA NA 2504 0.5399 NA NA NA Melanoma(83;700 1353 9357 11478 30548) NA 0 G ,, 2239,1543 702,835,354 4 5 5 ,, -2.4 0 6 dbSNP_116 5 2846,4898 615,1616,1641 no intron,intron,intron SLC35B3 NM_001142540.1,NM_001142541.1,NM_015948.3 ,, 1317,2451,1995 AA,AG,GG 36.751,40.7985,44.1176 ,, ,, 8430049 5085,6441 1891 3872 5763 SO:0001627 intron_variant AF132953 CCDS4508.1 6p24.3 2013-07-17 2013-07-17 2003-09-10 ENSG00000124786 ENSG00000124786 51000 Solute carriers 21601 protein-coding gene gene with protein product 3' phosphoadenosine 5' phosphosulfate transporter 2 610845 chromosome 6 open reading frame 196, solute carrier family 35, member B3 C6orf196 NA 10810093 Standard NM_015948 XM_005249156 NA Approved CGI-19, dJ453H5.1, PAPST2 uc010joe.3 Q9H1N7 OTTHUMG00000014224 ENST00000379660.4:c.297+47C>T chr6.hg19:g.8430049G>A NA A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308 hg19 CCDS4508.1 0.02 -0.08772 ACCxCAA UNCOVERED NOVEL SLC35B3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039802.1 1 2.708814 KEEP 0 0 0 9 312 GG 0.99254 0.098977 0 - 3 60 97 0 0 8.478545 7 60 229 25 ENST00000379660.4 0.3 0.099721 ELOVL2 54898 __UNKNOWN__ __UNKNOWN__ 6 10981053 10981053 __UNKNOWN__ 3'UTR SNP G G A rs8523 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:10981053G>A ENST00000354666.3 - 0 3935 NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) fatty acid elongase activity (GO:0009922) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) TCTACAAAGAGAAATGGCTTC 0.299 NA NA A||| 3370 0.672923 0.6286 0.6729 5008 , , NA 17595 0.9127 NA 0.4354 False NA ,,, NA NA NA 2504 0.7301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000341 CCDS4518.1 6p24.1 2011-05-25 2011-05-25 ENSG00000197977 ENSG00000197977 54898 14416 protein-coding gene gene with protein product 611814 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 NA 12371743, 16564093 Standard NM_017770 NA Approved Ssc2 uc003mzp.4 Q9NXB9 OTTHUMG00000014252 ENST00000354666.3:c.*2961C>T chr6.hg19:g.10981053G>A NA Q6P9E1|Q86W94 hg19 CCDS4518.1 0.02 -0.385996 AGAxAAA COVERED NOVEL ELOVL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039849.1 0 4.814435 KEEP 0 0 0 16 535 GG 0.997832 0.91618 0 - 4 60 128 0 0 8.890275 40 60 1397 81 ENST00000354666.3 0.090909 0.918171 RNF182 221687 __UNKNOWN__ __UNKNOWN__ 6 13978275 13978275 __UNKNOWN__ 3'UTR SNP A A C rs280162 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:13978275A>C ENST00000488300.1 + 0 1448 RNF182_ENST00000537663.1_3'UTR|RNF182_ENST00000537388.1_3'UTR|RNF182_ENST00000544682.1_3'UTR NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) GTTCATTTCTACTTAGGGGTT 0.413 NA NA A||| 1762 0.351837 0.1498 0.389 5008 , , NA 18965 0.381 NA 0.497 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090576 CCDS4531.1 6p23 2013-01-09 ENSG00000180537 ENSG00000180537 221687 RING-type (C3HC4) zinc fingers 28522 protein-coding gene gene with protein product NA NA 12477932 Standard NM_152737 NM_152737 NA Approved MGC33993 uc003nbg.3 Q8N6D2 OTTHUMG00000014280 ENST00000488300.1:c.*181A>C chr6.hg19:g.13978275A>C NA B2RDG2|Q8NBG3 hg19 CCDS4531.1 0.02 -0.412198 TCTxCTT COVERED NOVEL RNF182-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039911.2 1 7.819529 KEEP 0 0 0 26 747 AA 0.999957 0.941701 0 + 3 60 106 0 0 7.217512 43 60 1271 107 ENST00000488300.1 0.065217 0.941741 RNF182 221687 __UNKNOWN__ __UNKNOWN__ 6 13978618 13978618 __UNKNOWN__ 3'UTR SNP C C G rs376817539|rs280163 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:13978618C>G ENST00000488300.1 + 0 1791 RNF182_ENST00000537663.1_3'UTR|RNF182_ENST00000537388.1_3'UTR|RNF182_ENST00000544682.1_3'UTR NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) TTTCCTCTGCCCATTCTCCCT 0.458 NA NA G||| 1839 0.367212 0.2095 0.3919 5008 , , NA 20309 0.38 NA 0.494 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090576 CCDS4531.1 6p23 2013-01-09 ENSG00000180537 ENSG00000180537 221687 RING-type (C3HC4) zinc fingers 28522 protein-coding gene gene with protein product NA NA 12477932 Standard NM_152737 NM_152737 NA Approved MGC33993 uc003nbg.3 Q8N6D2 OTTHUMG00000014280 ENST00000488300.1:c.*524C>G chr6.hg19:g.13978618C>G NA B2RDG2|Q8NBG3 hg19 CCDS4531.1 0.02 1.914886 TGCxCAT COVERED NOVEL RNF182-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039911.2 2 5.116481 KEEP 0 0 0 17 586 CC 0.999366 0.973348 0 + 5 60 169 0 0 12.096019 48 60 1632 90 ENST00000488300.1 0.09434 0.973965 BTN2A2 10385 __UNKNOWN__ __UNKNOWN__ 6 26393021 26393021 __UNKNOWN__ Silent SNP G G A rs1614887 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:26393021G>A ENST00000482536.1 + 6 854 c.768G>A c.(766-768)tcG>tcA p.S256S BTN2A2_ENST00000352867.2_Silent_p.S350S|BTN2A2_ENST00000416795.2_Silent_p.S466S|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000356709.4_Silent_p.S466S|BTN2A2_ENST00000432533.2_3'UTR Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 466 NA negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 GGGACAGATCGCACATCTACA 0.537 NA NA g||| 2903 0.579673 0.9115 0.5029 5008 , , NA 19434 0.3323 NA 0.5785 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 A ,,,,, 3750,656 1599,552,52 134 117 123 1398,,768,,1398,1050 -7.3 0.6 6 dbSNP_89 123 4658,3942 1281,2096,923 no coding-synonymous,intron,coding-synonymous,utr-3,coding-synonymous,coding-synonymous BTN2A2 NM_001197237.1,NM_001197238.1,NM_001197239.1,NM_001197240.1,NM_006995.4,NM_181531.2 ,,,,, 2880,2648,975 AA,AG,GG 45.8372,14.8888,35.3529 ,,,,, 466/524,,256/314,,466/524,350/408 26393021 8408,4598 2203 4300 6503 SO:0001819 synonymous_variant U90550 CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1 6p22.1 2014-01-14 ENSG00000124508 ENSG00000124508 10385 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1137 protein-coding gene gene with protein product 613591 NA 10354554, 9149941 Standard NM_006995 NA Approved BTF2, BT2.2, BTN2.2 uc003nhq.3 Q8WVV5 OTTHUMG00000014452 ENST00000482536.1:c.768G>A chr6.hg19:g.26393021G>A NA A6NM84|B4DE97|B4DQ01|E9PH07|O00480 hg19 CCDS56403.1 0.02 2.828315 ATCxCAC COVERED NOVEL BTN2A2-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000353987.1 9 24.059663 KEEP 12 0 0 80 2663 GG 1 1 0 + 7 60 209 0 0 12.149175 135 60 4516 313 ENST00000482536.1 0.049296 1 ZSCAN9 7746 __UNKNOWN__ __UNKNOWN__ 6 28198456 28198456 __UNKNOWN__ Intron SNP T T C rs9468317 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:28198456T>C ENST00000425468.2 + 4 886 ZSCAN9_ENST00000252207.5_Intron|ZSCAN9_ENST00000531979.1_Intron NM_001199479.1 NP_001186408.1 O15535 ZSC9_HUMAN zinc finger and SCAN domain containing 9 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA agagattagattgtagcaaga 0.378 NA NA T||| 1041 0.207867 0.3064 0.1643 5008 , , NA 18290 0.2113 NA 0.1531 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U62392 CCDS4646.1, CCDS56407.1 6p21 2013-01-09 2013-01-09 2013-01-09 ENSG00000137185 ENSG00000137185 7746 -, Zinc fingers, C2H2-type 12984 protein-coding gene gene with protein product 602246 zinc finger protein 193 ZNF193 NA Standard NM_006299 NM_001199479 NA Approved PRD51 uc003nkq.2 O15535 OTTHUMG00000014515 ENST00000425468.2:c.721+190T>C chr6.hg19:g.28198456T>C NA B4E1W6|E7EVQ2|Q2TTR1 hg19 CCDS56407.1 0.02 1.833634 AGAxTGT COVERED NOVEL ZSCAN9-003 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000383022.1 6 10.52945 KEEP 0 0 0 35 1082 TT 0.999999 0.999676 0 + 4 60 138 0 0 8.729402 80 60 2521 161 ENST00000425468.2 0.047619 0.999678 ZSCAN12 9753 __UNKNOWN__ __UNKNOWN__ 6 28348158 28348158 __UNKNOWN__ 3'UTR SNP T T G rs1052215 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:28348158T>G ENST00000361028.1 - 0 4068 ZSCAN12_ENST00000396827.3_3'UTR O43309 ZSC12_HUMAN zinc finger and SCAN domain containing 12 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(3)|urinary_tract(1) 6 ACATTCATCATGTTTATTGTG 0.433 NA NA T||| 1933 0.385982 0.0416 0.513 5008 , , NA 19575 0.4097 NA 0.6093 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007886 6p21 2013-01-08 2007-02-20 2007-02-20 ENSG00000158691 ENSG00000158691 9753 -, Zinc fingers, C2H2-type 13172 protein-coding gene gene with protein product 603978 zinc finger protein 305, zinc finger protein 96 ZNF305, ZNF96 NA 9244436 Standard NM_014724 NM_001163391 NA Approved KIAA0426, ZNF29K1, ZFP96, dJ29K1.2 uc011dlh.2 O43309 OTTHUMG00000014522 ENST00000361028.1:c.*2108A>C chr6.hg19:g.28348158T>G NA O43724 hg19 0.02 1.792237 TCAxGTT COVERED NOVEL ZSCAN12-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000040190.1 3 13.236334 KEEP 0 0 0 44 1320 TT 1 0.995687 0 - 4 60 138 0 0 9.105744 64 60 1921 150 ENST00000361028.1 0.058824 0.995687 LINC00243 401247 __UNKNOWN__ __UNKNOWN__ 6 30782205 30782205 __UNKNOWN__ RNA SNP G G C rs886423 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:30782205G>C ENST00000399196.1 - 0 489 long intergenic non-protein coding RNA 243 NA NA NA TGAATCCAGGGGTGGCCACAT 0.468 NA NA G||| 626 0.125 0.2352 0.0836 5008 , , NA 20027 0.0675 NA 0.1312 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK098012 6p21.33 2012-10-12 2011-08-11 2011-08-11 ENSG00000236006 ENSG00000214894 401247 Long non-coding RNAs 30956 non-coding RNA RNA, long non-coding NA chromosome 6 open reading frame 214 (putative), non-protein coding RNA 243 C6orf214, NCRNA00243 NA Standard XR_159458 NA Approved bQB230F21.2, FLJ40693, bQB10J12.2 OTTHUMG00000031539 ENST00000399196.1: chr6.hg19:g.30782205G>C NA hg19 0.02 3.605822 AGGxGTG COVERED NOVEL LINC00243-001 KNOWN basic|exp_conf processed_transcript NA processed_transcript OTTHUMT00000076501.3 10 25.882096 KEEP 0 0 0 86 2988 GG 1 1 0 - 5 60 173 0 0 10.248962 140 70 4808 336 ENST00000399196.1 0.034483 1 POU5F1 5460 __UNKNOWN__ __UNKNOWN__ 6 31134888 31134888 __UNKNOWN__ Intron SNP T T C rs3130931 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:31134888T>C ENST00000441888.3 - 2 113 POU5F1_ENST00000259915.8_Intron|POU5F1_ENST00000513407.1_5'UTR Q01860 PO5F1_HUMAN POU class 5 homeobox 1 NA NA anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 Dopamine(DB00988)|Norepinephrine(DB00368) AAGTGCTATTTGGCACttgtt 0.413 NA NA T EWSR1 sarcoma T||| 3624 0.723642 0.8646 0.7925 5008 , , NA 16431 0.6577 NA 0.7326 False NA ,,, NA NA NA 2504 0.5429 NA NA NA Dom yes 6 6p21.31 5460 POU domain, class 5, transcription factor 1 M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z11898 CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1 6p21.33 2011-06-20 2007-07-13 ENSG00000204531 ENSG00000204531 5460 Homeoboxes / POU class 9221 protein-coding gene gene with protein product 164177 POU domain class 5, transcription factor 1 OTF3 NA 1408763 Standard NM_002701 NM_002701 NA Approved OCT3, Oct4, MGC22487 uc003nsv.3 Q01860 OTTHUMG00000031206 ENST00000441888.3:c.183-1064A>G chr6.hg19:g.31134888T>C NA A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4 hg19 0.02 1.604926 ATTxGGC COVERED NOVEL POU5F1-004 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000401434.2 3 20.460755 KEEP 0 0 0 68 2093 TT 1 0.998993 0 - 4 60 133 0 0 8.431392 71 60 2137 213 ENST00000441888.3 0.053333 0.998993 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32256418 32256418 __UNKNOWN__ Missense_Mutation SNP T T C rs9268142 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:32256418T>C ENST00000442822.2 - 26 1580 c.1388A>G c.(1387-1389)tAt>tGt p.Y463C Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 0 NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TGGATGATGATAGATAAGAGT 0.388 NA NA T||| 1086 0.216853 0.23 0.1282 5008 , , NA 16116 0.2163 NA 0.2326 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.1388A>G chr6.hg19:g.32256418T>C ENSP00000411164:p.Tyr463Cys NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 3.60524 TGAxAGA COVERED 479 0.21932234432234432 136 0.2764227642276423 51 0.1408839779005525 110 0.19230769230769232 182 0.24010554089709762 T 0.078 -1.188235 0.01607 . . ENSG00000204296 ENST00000442822 T 0.04317 3.65 2.01 2.01 0.26516 . . . . . T 0.01800 0.0057 . . . 0.22996 P 0.99845853 B 0.31705 0.336 B 0.36244 0.22 T 0.43572 -0.9383 7 0.52906 T 0.07 . 6.0251 0.19650 0.0:0.0:0.0:1.0 rs9268142;rs17201974;rs9268142 463 C9J9T8 . C 463 ENSP00000411164:Y463C ENSP00000411164:Y463C Y - 2 0 C6orf10 32364396 0.867000 0.29959 0.525000 0.27900 0.062000 0.15995 1.755000 0.38379 1.196000 0.43129 0.418000 0.28097 TAT NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 11 40.918649 KEEP 0 0 0 136 4133 TT 1 1 0 - 6 60 206 0 0 12.657512 137 60 4062 398 ENST00000442822.2 0.041958 1 HLA-DQA2 3118 __UNKNOWN__ __UNKNOWN__ 6 32709204 32709204 __UNKNOWN__ 5'UTR SNP G G C rs9276401 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:32709204G>C ENST00000374940.3 + 0 86 NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395) endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 "Insulin(DB00071) AACTGCTGAGGCTGCCTTGGG 0.552 NA NA G||| 876 0.17492 0.3351 0.1369 5008 , , NA 17678 0.0377 NA 0.1909 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 G 1280,3126 140,1000,1063 69 63 65 0.3 0.3 6 dbSNP_118 65 1786,6814 181,1424,2695 no utr-5 HLA-DQA2 NM_020056.4 321,2424,3758 CC,CG,GG 20.7674,29.0513,23.5737 32709204 3066,9940 2203 4300 6503 SO:0001623 5_prime_UTR_variant CCDS4753.1 6p21.3 2013-01-11 ENSG00000237541 ENSG00000237541 3118 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4943 protein-coding gene gene with protein product 613503 HLA-DXA NA Standard NM_020056 NM_020056 NA Approved uc003obx.3 P01906 OTTHUMG00000031108 ENST00000374940.3:c.-17G>C chr6.hg19:g.32709204G>C NA A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04 hg19 CCDS4753.1 0.02 4.055354 GAGxCTG COVERED NOVEL HLA-DQA2-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076179.2 8 14.986514 KEEP 0 0 0 50 1738 GG 1 0.999984 0 + 5 60 173 0 0 11.027194 97 60 3434 234 ENST00000374940.3 0.04902 0.999984 SCUBE3 222663 __UNKNOWN__ __UNKNOWN__ 6 35219208 35219208 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:35219208A>G ENST00000274938.7 + 0 5708 NM_152753.2 NP_689966.2 signal peptide, CUB domain, EGF-like 3 NA NA breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 gattacaggcatgagccaccg 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF452494.1 CCDS4800.1 6p21.3 2008-02-05 2004-05-19 2004-05-21 ENSG00000146197 222663 13655 protein-coding gene gene with protein product 614708 CUB domain and EGF-like repeat containing 3 CEGF3 NA 12270931 Standard NM_152753 NM_152753 NA Approved FLJ34743 uc003okf.1 Q8IX30 ENST00000274938.7:c.*2726A>G chr6.hg19:g.35219208A>G NA hg19 CCDS4800.1 0.02 3.757395 GGCxTGA COVERED NOVEL SCUBE3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040275.1 25 6.903001 KEEP 1 3 88 54 1587 AA 1 1 0 + 7 60 239 1 0 15.58214 116 60 3481 280 ENST00000274938.7 0.056911 1 MAPK14 1432 __UNKNOWN__ __UNKNOWN__ 6 36076380 36076380 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:36076380C>T ENST00000229795.3 + 0 1686 MAPK14_ENST00000468133.1_3'UTR|MAPK14_ENST00000229794.4_3'UTR NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 NA NA 3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 agtgtgtgtgcatgtgtgtgt 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L35263 CCDS4815.1, CCDS4816.1, CCDS4817.1 6p21.3-p21.2 2011-06-09 ENSG00000112062 ENSG00000112062 1432 Mitogen-activated protein kinase cascade / Kinases 6876 protein-coding gene gene with protein product p38 MAP kinase 600289 CSPB1, CSBP1, CSBP2 NA 7997261 Standard NM_001315 NM_139012 NA Approved PRKM14, p38, Mxi2, PRKM15 uc003olq.3 Q16539 OTTHUMG00000159806 ENST00000229795.3:c.*156C>T chr6.hg19:g.36076380C>T NA A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0 hg19 CCDS4815.1 0.02 1.368433 GTGxATG COVERED NOVEL MAPK14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000357449.1 12 3.044277 KEEP 0 1 31 21 728 CC 0.999879 0.997432 0 + 4 60 124 1 0 7.845032 59 60 1964 123 ENST00000229795.3 0.063492 0.997553 FGD2 221472 __UNKNOWN__ __UNKNOWN__ 6 36978834 36978834 __UNKNOWN__ Intron SNP A A G rs1753288 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:36978834A>G ENST00000274963.8 + 3 549 NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CAGGCCAGTGACCAGGACACC 0.642 NA NA G||| 2113 0.421925 0.4032 0.464 5008 , , NA 15846 0.5476 NA 0.3738 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 G 1814,2592 633.9+/-396.1 378,1058,767 48 51 50 0.5 0.5 6 dbSNP_89 50 3217,5383 649.9+/-400.7 630,1957,1713 no intron FGD2 NM_173558.3 1008,3015,2480 GG,GA,AA 37.407,41.1711,38.6821 36978834 5031,7975 2203 4300 6503 SO:0001627 intron_variant AK097230 CCDS4829.1 6p21.2 2013-01-10 2004-08-24 ENSG00000146192 ENSG00000146192 221472 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 3664 protein-coding gene gene with protein product 605091 FGD1 family, member 2 NA 10458911 Standard NM_173558 NM_173558 NA Approved ZFYVE4 uc010jwp.1 Q7Z6J4 OTTHUMG00000014616 ENST00000274963.8:c.378+8A>G chr6.hg19:g.36978834A>G NA Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2 hg19 CCDS4829.1 0.02 1.54672 GTGxCCA COVERED NOVEL FGD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040398.2 4 18.346624 KEEP 0 0 0 61 1750 AA 1 0.99993 0 + 4 60 140 0 0 8.710307 91 60 2651 206 ENST00000274963.8 0.042105 0.99993 TREML2 79865 __UNKNOWN__ __UNKNOWN__ 6 41159532 41159532 __UNKNOWN__ 3'UTR SNP C C G rs3800342 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:41159532C>G ENST00000483722.1 - 0 1784 NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 NA NA T cell activation (GO:0042110) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) GGGCTCTGCGCGGTCCCAGGA 0.657 NA NA G||| 1835 0.366414 0.3336 0.3847 5008 , , NA 17659 0.3601 NA 0.329 False NA ,,, NA NA NA 2504 0.4427 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023755 CCDS4853.1, CCDS4853.2 6p21.1 2013-01-11 2004-04-14 2004-04-16 ENSG00000112195 ENSG00000112195 79865 Immunoglobulin superfamily / V-set domain containing 21092 protein-coding gene gene with protein product TREM-like transcript 2 609715 chromosome 6 open reading frame 76 C6orf76 NA 12645956 Standard NM_024807 NM_024807 NA Approved FLJ13693, TLT2, dJ238O23.1 uc010jxm.1 Q5T2D2 OTTHUMG00000016349 ENST00000483722.1:c.*633G>C chr6.hg19:g.41159532C>G NA Q08AP8|Q08AP9|Q8IWY0|Q9H8E9 hg19 CCDS4853.2 0.02 -0.403509 GCGxGGT COVERED NOVEL TREML2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043756.3 3 7.223022 KEEP 0 0 0 24 813 CC 0.999909 0.941656 0 - 3 60 106 0 0 7.216881 43 60 1495 102 ENST00000483722.1 0.065217 0.941741 TAF8 129685 __UNKNOWN__ __UNKNOWN__ 6 42025318 42025318 __UNKNOWN__ Intron SNP G G A rs12208813 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:42025318G>A ENST00000465926.1 + 5 720 TAF8_ENST00000494547.1_Intron|TAF8_ENST00000372977.3_Intron|TAF8_ENST00000482926.1_Intron|TAF8_ENST00000372978.3_3'UTR|TAF8_ENST00000456846.2_Intron|TAF8_ENST00000372982.4_Intron Q7Z7C8 TAF8_HUMAN TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa NA NA cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) TGACTGTCACGTGGCAGAGTC 0.512 NA NA G||| 504 0.100639 0.0068 0.0389 5008 , , NA 16822 0.2569 NA 0.0924 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057383 CCDS43462.1 6p21.1 2008-10-23 2007-07-30 2007-07-30 ENSG00000137413 ENSG00000137413 129685 17300 protein-coding gene gene with protein product 609514 TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa, taube nuss homolog (mouse) TBN NA Standard NM_138572 NM_138572 NA Approved FLJ32821, TAF(II)43 uc003ors.3 Q7Z7C8 OTTHUMG00000014692 ENST00000465926.1:c.300+67G>A chr6.hg19:g.42025318G>A NA Q5T0K1|Q8N4R9|Q96M52 hg19 0.02 5.986784 CACxTGG COVERED NOVEL TAF8-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357904.2 19 33.237073 KEEP 0 1 27 120 4051 GG 1 1 0 + 8 60 239 0 0 13.158012 192 60 6380 439 ENST00000465926.1 0.04 1 TRERF1 55809 __UNKNOWN__ __UNKNOWN__ 6 42195731 42195731 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:42195731T>A ENST00000372922.4 - 0 4517 TRERF1_ENST00000372917.4_3'UTR|TRERF1_ENST00000541110.1_3'UTR NM_033502.2 NP_277037.1 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 NA NA cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ACACACACACTCACAGCAAGC 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF297872 CCDS4867.1, CCDS75455.1 6p21.1-p12.1 2012-09-25 ENSG00000124496 ENSG00000124496 55809 18273 protein-coding gene gene with protein product 610322 breast cancer anti-estrogen resistance 2 BCAR2 NA 11349124 Standard NM_033502 XM_005249223 NA Approved TReP-132, HSA277276, RAPA, dJ139D8.5 uc003osd.2 Q96PN7 OTTHUMG00000014698 ENST00000372922.4:c.*352A>T chr6.hg19:g.42195731T>A NA Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9 hg19 CCDS4867.1 0.02 2.868282 CACxCAC COVERED NOVEL TRERF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040551.2 14 16.543384 KEEP 0 0 0 55 1646 TT 1 1 0 - 6 60 180 0 1 10.489172 116 60 3601 251 ENST00000372922.4 0.04918 1 GLTSCR1L 23506 __UNKNOWN__ __UNKNOWN__ 6 42796380 42796380 __UNKNOWN__ Silent SNP C C T rs372828424 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:42796380C>T ENST00000314073.5 + 6 485 c.309C>T c.(307-309)ttC>ttT p.F103F GLTSCR1L_ENST00000394168.1_Silent_p.F103F Q6AI39 GSC1L_HUMAN GLTSCR1-like 103 NA NA ACCAACCTTTCGACATTCTTC 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C 1,4405 2.1+/-5.4 0,1,2202 126 108 114 309 -2.3 1 6 114 0,8600 0,0,4300 no coding-synonymous KIAA0240 NM_015349.1 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 103/1080 42796380 1,13005 2203 4300 6503 SO:0001819 synonymous_variant AL833540 CCDS34451.1 6p21.1 2012-11-29 2012-11-29 2012-11-29 ENSG00000112624 ENSG00000112624 23506 21111 protein-coding gene gene with protein product NA KIAA0240 KIAA0240 NA Standard NM_015349 XM_005248972 NA Approved uc003osp.1 Q6AI39 OTTHUMG00000014706 ENST00000314073.5:c.309C>T chr6.hg19:g.42796380C>T NA A1L3W2|Q5TFZ3|Q92514 hg19 CCDS34451.1 0.02 1.12904 TTTxGAC COVERED NOVEL GLTSCR1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040562.3 2 12.940586 KEEP 0 0 0 43 1415 CC 1 0.999726 0 + 5 60 146 0 0 8.688219 82 60 2670 176 ENST00000314073.5 0.057471 0.999726 RPL7L1 285855 __UNKNOWN__ __UNKNOWN__ 6 42857475 42857475 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:42857475G>A ENST00000493763.1 + 0 4317 RPL7L1_ENST00000304734.5_3'UTR NM_198486.2 NP_940888.2 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 NA NA ribosome (GO:0005840) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) gatggttaaagggattaaaca 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4873.1 6p21.1 2011-01-14 ENSG00000146223 ENSG00000146223 285855 L ribosomal proteins 21370 protein-coding gene gene with protein product NA NA Standard XM_209769 NM_198486 NA Approved dJ475N16.4 uc003osq.1 Q6DKI1 OTTHUMG00000014710 ENST00000493763.1:c.*3273G>A chr6.hg19:g.42857475G>A NA A8K7D4|B7Z652|Q5TFZ5|Q6PEK3 hg19 CCDS4873.1 0.02 4.211569 AAAxGGA COVERED NOVEL RPL7L1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314417.1 5 16.327224 KEEP 11 8 232 136 4794 GG 1 1 0 + 14 45 390 0 0 24.827469 153 60 5359 442 ENST00000493763.1 0.083832 1 GSTA4 2941 __UNKNOWN__ __UNKNOWN__ 6 52842839 52842839 __UNKNOWN__ 5'UTR SNP C C T rs7496 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:52842839C>T ENST00000486559.1 - 0 1604 GSTA4_ENST00000541324.1_3'UTR O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 NA NA glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803) endometrium(1)|lung(3)|skin(2)|urinary_tract(1) 7 Lung NSC(77;0.103) Glutathione(DB00143) GAGTCATTTACTAGACATTCG 0.363 NA NA C||| 1051 0.209864 0.2935 0.3127 5008 , , NA 17066 0.1399 NA 0.0964 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF020918 CCDS4948.1 6p12.2 2012-06-21 2008-11-26 ENSG00000170899 ENSG00000170899 2941 2.5.1.18 Glutathione S-transferases / Soluble 4629 protein-coding gene gene with protein product 605450 glutathione S-transferase A4 NA 9480897 Standard NM_001512 NM_001512 NA Approved uc003pbf.3 O15217 OTTHUMG00000014868 ENST00000486559.1:c.-89G>A chr6.hg19:g.52842839C>T NA B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414 hg19 0.02 1.663216 TTAxTAG COVERED NOVEL GSTA4-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000040949.1 6 6.922236 KEEP 0 0 0 23 799 CC 0.999892 0.987837 0 - 5 60 154 0 0 10.318204 55 60 1921 105 ENST00000486559.1 0.083333 0.987943 CD109 135228 __UNKNOWN__ __UNKNOWN__ 6 74521947 74521947 __UNKNOWN__ Missense_Mutation SNP C C T rs2917862 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:74521947C>T ENST00000287097.5 + 29 3834 c.3722C>T c.(3721-3723)aCg>aTg p.T1241M CD109_ENST00000422508.2_Missense_Mutation_p.T1164M|CD109_ENST00000437994.2_Missense_Mutation_p.T1224M Q6YHK3 CD109_HUMAN CD109 molecule 1241 NA T -> M (in dbSNP:rs2917862). {ECO:0000269|PubMed:11861284, ECO:0000269|PubMed:17974005}. negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTACAGCCAACGGCAGTTAAT 0.328 NA NA C||| 2045 0.408347 0.202 0.4669 5008 , , NA 20547 0.4583 NA 0.4901 False NA ,,, NA NA NA 2504 0.5102 NA NA NA NA 0 C MET/THR,MET/THR,MET/THR 1141,3265 406.6+/-333.9 144,853,1206 149 141 144 3671,3491,3722 -2 0 6 dbSNP_101 144 4056,4544 558.9+/-387.3 977,2102,1221 yes missense,missense,missense CD109 NM_001159587.1,NM_001159588.1,NM_133493.3 81,81,81 1121,2955,2427 TT,TC,CC 47.1628,25.8965,39.9585 benign,benign,benign 1224/1429,1164/1369,1241/1446 74521947 5197,7809 2203 4300 6503 SO:0001583 missense AF410459 CCDS4982.1, CCDS55038.1, CCDS55039.1 6q14.1 2008-02-05 2006-03-28 ENSG00000156535 ENSG00000156535 135228 CD molecules 21685 protein-coding gene gene with protein product 608859 CD109 antigen (Gov platelet alloantigens) NA 11861284, 11861285 Standard NM_133493 XM_005248659 NA Approved FLJ38569, DKFZp762L1111, CPAMD7 uc003php.3 Q6YHK3 OTTHUMG00000015040 ENST00000287097.5:c.3722C>T chr6.hg19:g.74521947C>T ENSP00000287097:p.Thr1241Met NA A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3 hg19 CCDS4982.1 0.02 1.19282 CAAxGGC COVERED 920 0.42124542124542125 112 0.22764227642276422 159 0.43922651933701656 265 0.4632867132867133 384 0.5065963060686016 C 4.096 0.015803 0.07959 0.258965 0.471628 ENSG00000156535 ENST00000437994;ENST00000422508;ENST00000287097 T;T;T 0.25579 1.79;2.02;1.8 5.25 -1.95 0.07548 . 0.901547 0.09940 N 0.736070 T 0.10035 0.0246 L 0.50333 1.59 0.80722 P 0.0 B;P;P 0.43542 0.177;0.81;0.607 B;B;B 0.37550 0.03;0.253;0.107 T 0.19321 -1.0309 9 0.44086 T 0.13 . 12.6268 0.56634 0.0:0.2844:0.0:0.7156 rs2917862;rs58804669;rs2917862 1164;1224;1241 Q6YHK3-2;Q6YHK3-4;Q6YHK3 .;.;CD109_HUMAN M 1224;1164;1241 ENSP00000388062:T1224M;ENSP00000404475:T1164M;ENSP00000287097:T1241M ENSP00000287097:T1241M T + 2 0 CD109 74578668 0.000000 0.05858 0.001000 0.08648 0.536000 0.34869 -0.978000 0.03778 -0.333000 0.08476 -0.251000 0.11542 ACG NOVEL CD109-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041230.3 1 10.868596 KEEP 0 1 31 47 1597 CC 1 0.999862 0 + 7 60 209 0 0 13.567387 83 60 2828 212 ENST00000287097.5 0.077778 0.999862 SENP6 26054 __UNKNOWN__ __UNKNOWN__ 6 76357593 76357593 __UNKNOWN__ Intron SNP G G A rs569731 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:76357593G>A ENST00000447266.2 + 7 1028 SENP6_ENST00000327284.8_Intron|SENP6_ENST00000436928.3_Intron|SENP6_ENST00000370010.2_Intron|SENP6_ENST00000370014.3_Intron NM_015571.2 NP_056386.2 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 NA NA protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169) cytoplasm (GO:0005737)|nucleus (GO:0005634) SUMO-specific protease activity (GO:0016929) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) ATACGATGCTGGCTTTAGAAT 0.358 NA NA G||| 1218 0.243211 0.3548 0.1282 5008 , , NA 16076 0.2401 NA 0.1412 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43483.1, CCDS47454.1 6q13-q14.3 2008-02-05 2005-08-17 ENSG00000112701 ENSG00000112701 26054 20944 protein-coding gene gene with protein product 605003 SUMO1/sentrin specific protease 6 NA Standard NM_015571 NM_015571 NA Approved SUSP1, KIAA0797 uc003pid.4 Q9GZR1 OTTHUMG00000015060 ENST00000447266.2:c.550+76G>A chr6.hg19:g.76357593G>A NA A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5 hg19 CCDS47454.1 0.02 1.170745 GCTxGCT COVERED NOVEL SENP6-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041272.2 7 15.65021 KEEP 0 0 0 52 1815 GG 1 0.997163 0 + 5 60 142 0 0 8.774573 65 60 2209 186 ENST00000447266.2 0.071429 0.997163 BACH2 60468 __UNKNOWN__ __UNKNOWN__ 6 90718594 90718594 __UNKNOWN__ Intron SNP C C G rs143731702|rs189901289 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:90718594C>G ENST00000257749.4 - 6 696 BACH2_ENST00000537989.1_Intron|BACH2_ENST00000343122.3_Intron NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) aagaaagaaacaaagaaagaa 0.483 NA NA C||| 19 0.00379393 0.0091 0.0014 5008 , , NA 20783 0.001 NA 0.004 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 55 56 55 NA NA 6 NA 90718594 2203 4300 6503 SO:0001627 intron_variant AL121787 CCDS5026.1 6q15 2013-01-10 ENSG00000112182 ENSG00000112182 60468 BTB/POZ domain containing, basic leucine zipper proteins 14078 protein-coding gene gene with protein product 605394 NA 10949928, 12829606 Standard NM_021813 NM_001170794 NA Approved BTBD25 uc003pnw.3 Q9BYV9 OTTHUMG00000015216 ENST00000257749.4:c.12-19G>C chr6.hg19:g.90718594C>G NA E1P518|Q59H70|Q5T793|Q9NTS5 hg19 CCDS5026.1 0.02 3.706921 AAAxAAA COVERED NOVEL BACH2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041522.2 14 4.496124 KEEP 0 5 181 78 2749 CC 1 0.999999 0 - 6 60 214 1 0 13.921238 114 60 3954 299 ENST00000257749.4 0.05 0.999999 POU3F2 5454 __UNKNOWN__ __UNKNOWN__ 6 99284984 99284984 __UNKNOWN__ 3'UTR SNP C C G rs33999841 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:99284984C>G ENST00000328345.5 + 0 2405 NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 NA NA astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770) nucleus (GO:0005634)|transcription factor complex (GO:0005667) identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) ATTGGTTGTTCTTACCAGCCA 0.393 NA NA G||| 202 0.0403355 0.034 0.0331 5008 , , NA 18207 0.001 NA 0.0666 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z11933 CCDS5040.1 6q16.2 2011-06-20 2007-07-13 ENSG00000184486 ENSG00000184486 5454 Homeoboxes / POU class 9215 protein-coding gene gene with protein product 600494 POU domain class 3, transcription factor 2 OTF7 NA 8441633 Standard NM_005604 NA Approved POUF3, BRN2, OCT7 uc003ppe.3 P20265 OTTHUMG00000015258 ENST00000328345.5:c.*903C>G chr6.hg19:g.99284984C>G NA Q14960|Q86V54|Q9UJL0 hg19 CCDS5040.1 0.02 -0.43831 GTTxTTA COVERED NOVEL POU3F2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041586.2 0 6.018924 KEEP 0 0 0 20 684 CC 0.999863 0.959727 0 + 4 60 142 0 0 10.05815 46 60 1533 98 ENST00000328345.5 0.08 0.959859 AIM1 202 __UNKNOWN__ __UNKNOWN__ 6 107017926 107017926 __UNKNOWN__ 3'UTR SNP C C T rs1057433 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:107017926C>T ENST00000369066.3 + 0 7144 NM_001624.2 NP_001615 Q9UMX9 S45A2_HUMAN absent in melanoma 1 NA NA developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601) integral component of membrane (GO:0016021) breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CCAGCCCATACGCTGCTCTTC 0.398 NA NA C||| 1109 0.221446 0.2088 0.2046 5008 , , NA 24975 0.0565 NA 0.2853 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U83115 CCDS34506.1 6q21 2014-01-29 ENSG00000112297 ENSG00000112297 202 356 protein-coding gene gene with protein product suppression of tumorigenicity 4, beta-gamma crystallin domain containing 1 601797 suppression of tumorigenicity 4 (malignant melanoma) ST4 NA 1680551, 12693952 Standard NM_001624 NA Approved CRYBG1 uc003prh.3 Q9Y4K1 OTTHUMG00000015302 ENST00000369066.3:c.*1485C>T chr6.hg19:g.107017926C>T NA Q6P2P0|Q9BTM3 hg19 CCDS34506.1 0.02 -0.377185 ATAxGCT COVERED NOVEL AIM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041669.1 2 5.717906 KEEP 0 0 0 19 649 CC 0.99986 0.908941 0 + 4 60 109 0 0 7.0375 39 60 1292 89 ENST00000369066.3 0.093023 0.909069 QRSL1 55278 __UNKNOWN__ __UNKNOWN__ 6 107114361 107114361 __UNKNOWN__ 3'UTR SNP A A G rs1026619 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:107114361A>G ENST00000369046.4 + 0 2175 NM_018292.4 NP_060762.3 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 NA NA endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) GTCAGCATTTAGTAAGCATCC 0.313 NA NA A||| 1234 0.246406 0.2474 0.281 5008 , , NA 17557 0.0575 NA 0.3827 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NSCLC(192;2127 2142 11668 26277 49545) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001851 CCDS5057.1 6q21 2014-08-04 ENSG00000130348 ENSG00000130348 55278 21020 protein-coding gene gene with protein product glutamyl-tRNA(Gln) amidotransferase, subunit A NA NA 11230166, 19805282 Standard NM_018292 NM_018292 NA Approved GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447 uc003prm.3 Q9H0R6 OTTHUMG00000015301 ENST00000369046.4:c.*484A>G chr6.hg19:g.107114361A>G NA hg19 CCDS5057.1 0.02 2.035412 TTTxGTA COVERED NOVEL QRSL1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041667.1 3 9.326916 KEEP 0 0 0 31 954 AA 0.999997 0.992091 0 + 4 60 139 0 0 9.399453 57 60 1742 130 ENST00000369046.4 0.065574 0.992094 LACE1 246269 __UNKNOWN__ __UNKNOWN__ 6 108665932 108665932 __UNKNOWN__ Intron SNP C C G rs12529330 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:108665932C>G ENST00000368977.4 + 3 549 NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 NA NA mitochondrion (GO:0005739) ATP binding (GO:0005524) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) GTTTTACCCTCCCTTTCTGAA 0.413 NA NA C||| 541 0.108027 0.1649 0.0677 5008 , , NA 20860 0.0556 NA 0.0517 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF520418 CCDS5067.1 6q22.1 2006-11-10 ENSG00000135537 ENSG00000135537 246269 16411 protein-coding gene gene with protein product ATPase family gene 1 homolog (S. cerevisiae) NA NA 12079282 Standard NM_145315 XM_005266885 NA Approved AFG1 uc003psj.3 Q8WV93 OTTHUMG00000015324 ENST00000368977.4:c.364-2260C>G chr6.hg19:g.108665932C>G NA Q8N6A3 hg19 CCDS5067.1 0.02 -0.412304 CCTxCCT COVERED NOVEL LACE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041719.4 3 9.931049 KEEP 0 0 0 33 1116 CC 0.999998 0.941739 0 + 3 60 108 0 0 7.387567 44 60 1523 120 ENST00000368977.4 0.06383 0.941741 ARMC2 84071 __UNKNOWN__ __UNKNOWN__ 6 109294752 109294752 __UNKNOWN__ 3'UTR SNP C C T rs3734649 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:109294752C>T ENST00000392644.4 + 0 2807 ARMC2_ENST00000368972.3_3'UTR NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 NA NA endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) CGAGAACTCACGTCTCCCTCA 0.403 NA NA C||| 490 0.0978435 0.0477 0.0735 5008 , , NA 17113 0.0417 NA 0.1352 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 C 263,4143 148.4+/-182.8 7,249,1947 111 108 109 2.1 0 6 dbSNP_107 109 1011,7589 217.0+/-255.8 72,867,3361 no utr-3 ARMC2 NM_032131.4 79,1116,5308 TT,TC,CC 11.7558,5.9691,9.7955 109294752 1274,11732 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC030603 CCDS5069.2, CCDS69168.1 6q21 2013-02-14 ENSG00000118690 ENSG00000118690 84071 Armadillo repeat containing 23045 protein-coding gene gene with protein product NA NA Standard NM_032131 XM_005267154 NA Approved DKFZp434P0714, bA787I22.1 uc003pss.4 Q8NEN0 OTTHUMG00000015335 ENST00000392644.4:c.*35C>T chr6.hg19:g.109294752C>T NA A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9 hg19 CCDS5069.2 0.02 2.958497 TCAxGTC COVERED NOVEL ARMC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041732.2 9 30.131531 KEEP 0 1 31 111 3801 CC 1 1 0 + 6 60 184 0 0 10.801403 120 60 4036 347 ENST00000392644.4 0.047619 1 DSE 29940 __UNKNOWN__ __UNKNOWN__ 6 116575344 116575344 __UNKNOWN__ 5'UTR SNP T T G rs910391 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:116575344T>G ENST00000540275.1 + 0 9 Q9UL01 DSE_HUMAN dermatan sulfate epimerase NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) chondroitin-glucuronate 5-epimerase activity (GO:0047757) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CTCTGCGCGGTTGACTACGCT 0.493 NA NA G||| 4423 0.883187 0.9629 0.7896 5008 , , NA 17869 0.998 NA 0.661 False NA ,,, NA NA NA 2504 0.9519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF098066 CCDS5107.1 6q22 2008-02-05 2007-01-29 2007-01-29 ENSG00000111817 ENSG00000111817 29940 5.1.3.19 21144 protein-coding gene gene with protein product 605942 squamous cell carcinoma antigen recognized by T cells 2 SART2 NA 11920522, 16505484 Standard NM_013352 NM_001080976 NA Approved DSEPI uc003pws.3 Q9UL01 OTTHUMG00000015434 ENST00000540275.1:c.-113T>G chr6.hg19:g.116575344T>G NA Q5R3K6 hg19 0.02 2.044222 CGGxTGA COVERED NOVEL DSE-203 KNOWN basic protein_coding NA protein_coding 3 9.323994 KEEP 0 0 0 31 904 TT 0.999997 0.990961 0 + 4 60 140 0 0 9.470492 58 60 1731 113 ENST00000540275.1 0.064516 0.990964 ZUFSP 221302 __UNKNOWN__ __UNKNOWN__ 6 116977966 116977966 __UNKNOWN__ Missense_Mutation SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:116977966C>T ENST00000368576.3 - 5 1085 c.842G>A c.(841-843)cGa>cAa p.R281Q ZUFSP_ENST00000368573.1_Intron|ZUFSP_ENST00000471919.1_5'UTR NM_145062.2 NP_659499.2 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 281 NA metal ion binding (GO:0046872) NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) CTCCATATTTCGTAGTTGTTG 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 125 112 116 NA NA 6 NA 116977966 2203 4300 6503 SO:0001583 missense AK054582 CCDS5110.1 6q22.31 2013-01-28 2008-03-25 2008-03-25 ENSG00000153975 ENSG00000153975 221302 Zinc fingers, C2H2-type 21224 protein-coding gene gene with protein product NA chromosome 6 open reading frame 113 C6orf113 NA Standard NM_145062 NM_145062 NA Approved dJ412I7.3 uc003pxf.2 Q96AP4 OTTHUMG00000015445 ENST00000368576.3:c.842G>A chr6.hg19:g.116977966C>T ENSP00000357565:p.Arg281Gln NA Q5TD92|Q6PJH7|Q96NV6 hg19 CCDS5110.1 0.02 -0.18421 TTTxGTA COVERED . . . . . . . . . . C 15.29 2.788717 0.49997 . . ENSG00000153975 ENST00000368576 T 0.44482 0.92 5.55 4.69 0.59074 . 0.269234 0.36972 N 0.002317 T 0.12347 0.0300 L 0.34521 1.04 0.80722 D 1 D 0.54047 0.964 B 0.35607 0.206 T 0.04781 -1.0927 10 0.33141 T 0.24 -13.1227 6.9312 0.24442 0.0:0.7071:0.0:0.2929 . 281 Q96AP4 ZUFSP_HUMAN Q 281 ENSP00000357565:R281Q ENSP00000357565:R281Q R - 2 0 ZUFSP 117084659 0.999000 0.42202 0.945000 0.38365 0.968000 0.65278 2.173000 0.42472 1.337000 0.45525 -0.126000 0.14955 CGA NOVEL ZUFSP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041961.1 0 3.611578 KEEP 0 0 0 12 407 CC 0.993634 0.420782 0 - 3 60 90 0 0 6.692602 18 60 593 48 ENST00000368576.3 0.142857 0.423478 GPRC6A 222545 __UNKNOWN__ __UNKNOWN__ 6 117113653 117113653 __UNKNOWN__ Silent SNP T T C rs615199 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:117113653T>C ENST00000310357.3 - 6 2454 c.2433A>G c.(2431-2433)ccA>ccG p.P811P GPRC6A_ENST00000530250.1_Silent_p.P636P|GPRC6A_ENST00000368549.3_Silent_p.P740P NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, class C, group 6, member A 811 NA calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) p.P811P(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TCTCCACAGCTGGTACATATT 0.343 NA NA T||| 1534 0.30631 0.1452 0.3674 5008 , , NA 24347 0.5228 NA 0.3082 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 744,3662 304.1+/-288.3 65,614,1524 79 81 81 2433 -5.8 0.3 6 dbSNP_83 81 2838,5762 446.6+/-361.3 459,1920,1921 no coding-synonymous GPRC6A NM_148963.2 524,2534,3445 CC,CT,TT 33.0,16.8861,27.5411 811/927 117113653 3582,9424 2203 4300 6503 SO:0001819 synonymous_variant AF502962 CCDS5112.1, CCDS69184.1, CCDS69185.1 6q22.31 2014-01-30 2014-01-30 ENSG00000173612 ENSG00000173612 222545 GPCR / Class C : Calcium-sensing receptors 18510 protein-coding gene gene with protein product NA G protein-coupled receptor, family C, group 6, member A NA Standard NM_001286354 NA Approved bA86F4.3 uc003pxj.1 Q5T6X5 OTTHUMG00000015447 ENST00000310357.3:c.2433A>G chr6.hg19:g.117113653T>C NA Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6 hg19 CCDS5112.1 0.02 -0.280672 AGCxGGT COVERED NOVEL GPRC6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041966.2 6 3.911901 KEEP 0 0 0 13 412 TT 0.994391 0.735522 0 - 4 60 132 0 0 9.874199 28 60 863 61 ENST00000310357.3 0.125 0.739671 NKAIN2 154215 __UNKNOWN__ __UNKNOWN__ 6 124979658 124979658 __UNKNOWN__ Intron SNP C C T rs548777231 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:124979658C>T ENST00000368417.1 + 4 534 NKAIN2_ENST00000545433.1_Intron|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000368416.1_3'UTR NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) CTCATTAATGCGACTTTTAAC 0.398 NA NA C||| 1 0.000199681 8e-04 0 5008 , , NA 19412 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB070452 CCDS34526.1 6q21 2008-02-05 2007-10-04 2007-10-04 ENSG00000188580 ENSG00000188580 154215 Na+/K+ transporting ATPase interacting 16443 protein-coding gene gene with protein product 609758 T-cell lymphoma breakpoint associated target 1 TCBA1 NA 17606467 Standard NM_001040214 XM_005266833 NA Approved FAM77B uc003pzo.3 Q5VXU1 OTTHUMG00000015500 ENST00000368417.1:c.474+126C>T chr6.hg19:g.124979658C>T NA Q8IYR4|Q8TF67 hg19 CCDS34526.1 0.02 1.058809 ATGxGAC COVERED NOVEL NKAIN2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042057.1 4 22.606687 KEEP 0 1 34 87 2981 CC 1 0.999919 0 + 5 60 145 0 0 8.441803 88 60 3000 260 ENST00000368417.1 0.053763 0.999919 EYA4 2070 __UNKNOWN__ __UNKNOWN__ 6 133849789 133849789 __UNKNOWN__ Intron SNP A A G rs3822939 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:133849789A>G ENST00000452339.2 + 19 2233 EYA4_ENST00000367895.5_Intron|EYA4_ENST00000431403.2_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000531901.1_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000355167.3_Intron O95677 EYA4_HUMAN EYA transcriptional coactivator and phosphatase 4 NA NA anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TCATTGAGACAATGGTTGTGA 0.517 NA NA G||| 3858 0.770367 0.9281 0.6916 5008 , , NA 16839 0.8194 NA 0.5477 False NA ,,, NA NA NA 2504 0.7914 NA NA NA Melanoma(57;398 1237 3528 4702 7415) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y17114 CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1 6q23 2014-09-17 2014-06-19 ENSG00000112319 ENSG00000112319 2070 Protein tyrosine phosphatases / Asp-based PTPs 3522 protein-coding gene gene with protein product 603550 eyes absent (Drosophila) homolog 4, eyes absent homolog 4 (Drosophila) DFNA10, CMD1J NA 9887327, 11159937 Standard NM_004100 NM_004100 NA Approved uc003qed.4 O95677 OTTHUMG00000015602 ENST00000452339.2:c.1678-74A>G chr6.hg19:g.133849789A>G NA B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7 hg19 0.02 1.953238 GACxATG COVERED NOVEL EYA4-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000391009.1 11 5.717086 KEEP 0 0 0 19 586 AA 0.99986 0.989404 0 + 4 60 132 0 0 8.73041 56 60 1706 108 ENST00000452339.2 0.066667 0.989542 PERP 64065 __UNKNOWN__ __UNKNOWN__ 6 138412612 138412612 __UNKNOWN__ 3'UTR SNP A A G rs8085 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:138412612A>G ENST00000421351.3 - 0 1319 NM_022121.4 NP_071404.2 Q96FX8 PERP_HUMAN PERP, TP53 apoptosis effector NA NA activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862) cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739) breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1) 5 Breast(32;0.0799)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997) AGCCTTAGCTAAAATGAATGA 0.333 NA NA A||| 2744 0.547923 0.4054 0.4769 5008 , , NA 19948 0.6885 NA 0.5099 False NA ,,, NA NA NA 2504 0.6851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF317550 CCDS5188.1 6q24 2014-04-29 ENSG00000112378 ENSG00000112378 64065 17637 protein-coding gene gene with protein product keratinocyte associated protein 1 609301 NA 11062687 Standard NM_022121 NM_022121 NA Approved PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1 uc003qht.2 Q96FX8 OTTHUMG00000015668 ENST00000421351.3:c.*567T>C chr6.hg19:g.138412612A>G NA B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230 hg19 CCDS5188.1 0.02 -0.412219 GCTxAAA COVERED NOVEL PERP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042423.2 2 5.715803 KEEP 0 0 0 19 553 AA 0.99986 0.941609 0 - 4 60 139 0 0 9.869616 43 60 1281 92 ENST00000421351.3 0.085106 0.941741 PERP 64065 __UNKNOWN__ __UNKNOWN__ 6 138412798 138412798 __UNKNOWN__ 3'UTR SNP G G A rs481438 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:138412798G>A ENST00000421351.3 - 0 1133 NM_022121.4 NP_071404.2 Q96FX8 PERP_HUMAN PERP, TP53 apoptosis effector NA NA activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862) cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739) breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1) 5 Breast(32;0.0799)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997) TTAACAGACCGAGTCCATTCT 0.308 NA NA C||| 2158 0.430911 0.3351 0.3646 5008 , , NA 17760 0.6647 NA 0.2962 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF317550 CCDS5188.1 6q24 2014-04-29 ENSG00000112378 ENSG00000112378 64065 17637 protein-coding gene gene with protein product keratinocyte associated protein 1 609301 NA 11062687 Standard NM_022121 NM_022121 NA Approved PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1 uc003qht.2 Q96FX8 OTTHUMG00000015668 ENST00000421351.3:c.*381C>T chr6.hg19:g.138412798G>A NA B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230 hg19 CCDS5188.1 0.02 1.482327 ACCxAGT COVERED NOVEL PERP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042423.2 2 9.025721 KEEP 0 0 0 30 961 GG 0.999997 0.984158 0 - 5 60 146 0 0 9.59594 53 60 1744 120 ENST00000421351.3 0.086207 0.984161 REPS1 85021 __UNKNOWN__ __UNKNOWN__ 6 139241332 139241332 __UNKNOWN__ Intron SNP A A G rs9495285 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:139241332A>G ENST00000258062.5 - 12 2107 REPS1_ENST00000367663.4_Intron|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000415951.2_Intron|REPS1_ENST00000450536.2_Intron NM_031922.3 NP_114128.3 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 NA NA receptor-mediated endocytosis (GO:0006898) coated pit (GO:0005905)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TTCAAATGGAAGATGTAATAC 0.343 NA NA A||| 514 0.102636 0.1672 0.0937 5008 , , NA 18817 0.0337 NA 0.1382 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 A , 775,3629 310.2+/-291.5 72,631,1499 96 95 95 , 4.6 0 6 dbSNP_119 95 1392,7208 263.8+/-285.2 115,1162,3023 no intron,intron REPS1 NM_001128617.1,NM_031922.3 , 187,1793,4522 GG,GA,AA 16.186,17.5976,16.6641 , , 139241332 2167,10837 2202 4300 6502 SO:0001627 intron_variant CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1 6q24.1 2013-01-10 ENSG00000135597 ENSG00000135597 85021 EF-hand domain containing 15578 protein-coding gene gene with protein product 614825 NA Standard XM_005267177 NA Approved uc011edr.2 Q96D71 OTTHUMG00000015685 ENST00000258062.5:c.1528+19T>C chr6.hg19:g.139241332A>G NA B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9 hg19 CCDS5193.2 0.02 -0.412237 GGAxGAT COVERED NOVEL REPS1-003 KNOWN NAGNAG_splice_site|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042449.3 3 4.21281 KEEP 0 0 0 14 446 AA 0.995343 0.937356 0 - 4 60 137 0 0 9.669855 43 60 1373 83 ENST00000258062.5 0.085106 0.941741 PEX3 8504 __UNKNOWN__ __UNKNOWN__ 6 143810909 143810909 __UNKNOWN__ 3'UTR SNP A A G rs10809 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:143810909A>G ENST00000367591.4 + 0 1731 RP1-20N2.6_ENST00000591892.1_RNA NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 NA NA peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994) lipid binding (GO:0008289)|protein dimerization activity (GO:0046983) endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) TTATGGAAATAGTGAATTCCA 0.274 NA NA A||| 646 0.128994 0.0136 0.134 5008 , , NA 12164 0.1597 NA 0.2117 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ001625 CCDS5199.1 6q24.2 2008-05-15 ENSG00000034693 ENSG00000034693 8504 8858 protein-coding gene gene with protein product 603164 NA 9657383 Standard NM_003630 NA Approved uc003qjl.3 P56589 OTTHUMG00000015730 ENST00000367591.4:c.*546A>G chr6.hg19:g.143810909A>G NA Q6FGP5 hg19 CCDS5199.1 0.02 -0.403406 AATxGTG COVERED NOVEL PEX3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042525.1 2 8.42283 KEEP 0 0 0 28 841 AA 0.999997 0.934489 0 + 3 60 102 0 0 6.817717 43 60 1276 103 ENST00000367591.4 0.065217 0.934492 FUCA2 2519 __UNKNOWN__ __UNKNOWN__ 6 143823112 143823112 __UNKNOWN__ Missense_Mutation SNP G G A rs3762001 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:143823112G>A ENST00000002165.6 - 5 1166 c.1111C>T c.(1111-1113)Cat>Tat p.H371Y RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000610068.1_RNA NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma 371 NA H -> Y (in dbSNP:rs3762001). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16303743}. fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) CGCCAGGTATGGGTTTCATAA 0.428 NA NA G||| 852 0.170128 0.1233 0.1484 5008 , , NA 15192 0.1696 NA 0.2247 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 G TYR/HIS 676,3730 286.3+/-278.7 52,572,1579 108 108 108 1111 -1.4 0 6 dbSNP_107 108 1934,6666 342.2+/-324.4 213,1508,2579 yes missense FUCA2 NM_032020.4 83 265,2080,4158 AA,AG,GG 22.4884,15.3427,20.0677 benign 371/468 143823112 2610,10396 2203 4300 6503 SO:0001583 missense BC003060 CCDS5200.1 6q24 2012-10-02 ENSG00000001036 ENSG00000001036 2519 3.2.1.51 4008 protein-coding gene gene with protein product 136820 NA 6590153 Standard NM_032020 NM_032020 NA Approved MGC1314, dJ20N2.5 uc003qjm.3 Q9BTY2 OTTHUMG00000015728 ENST00000002165.6:c.1111C>T chr6.hg19:g.143823112G>A ENSP00000002165:p.His371Tyr NA E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4 hg19 CCDS5200.1 0.02 1.212982 TATxGGT COVERED 398 0.18223443223443223 71 0.1443089430894309 47 0.1298342541436464 104 0.18181818181818182 176 0.23218997361477572 G 9.312 1.055759 0.19907 0.153427 0.224884 ENSG00000001036 ENST00000002165;ENST00000451668 T;T 0.70045 0.56;-0.45 5.98 -1.41 0.08941 . 0.825483 0.11409 N 0.566960 T 0.31451 0.0797 L 0.29908 0.895 0.58432 P 1.0000000000287557E-6 B;B 0.06786 0.001;0.0 B;B 0.06405 0.002;0.0 T 0.12863 -1.0531 9 0.59425 D 0.04 -0.0053 8.8493 0.35190 0.134:0.0:0.3068:0.5592 rs3762001;rs17854673;rs17857722;rs52815197;rs61174998;rs3762001 50;371 Q7Z6V2;Q9BTY2 .;FUCO2_HUMAN Y 371;50 ENSP00000002165:H371Y;ENSP00000398119:H50Y ENSP00000002165:H371Y H - 1 0 FUCA2 143864805 0.556000 0.26538 0.001000 0.08648 0.726000 0.41606 1.172000 0.31908 -0.144000 0.11314 0.650000 0.86243 CAT NOVEL FUCA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042521.2 3 25.582374 KEEP 0 0 0 85 2998 GG 1 0.999962 0 - 6 60 185 0 0 11.542544 93 60 3264 268 ENST00000002165.6 0.060606 0.999962 FUCA2 2519 __UNKNOWN__ __UNKNOWN__ 6 143823157 143823157 __UNKNOWN__ Missense_Mutation SNP T T C rs3762002 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:143823157T>C ENST00000002165.6 - 5 1121 c.1066A>G c.(1066-1068)Atg>Gtg p.M356V RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000610068.1_RNA NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma 356 NA M -> V (in dbSNP:rs3762002). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16303743}. fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) CAGGACCCCATTTGCCTCAGT 0.448 NA NA T||| 1164 0.232428 0.3396 0.1859 5008 , , NA 14611 0.1687 NA 0.2247 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 T VAL/MET 1408,2998 462.4+/-353.2 231,946,1026 96 94 95 1066 6 1 6 dbSNP_107 95 1945,6655 343.2+/-324.8 216,1513,2571 yes missense FUCA2 NM_032020.4 21 447,2459,3597 CC,CT,TT 22.6163,31.9564,25.7804 benign 356/468 143823157 3353,9653 2203 4300 6503 SO:0001583 missense BC003060 CCDS5200.1 6q24 2012-10-02 ENSG00000001036 ENSG00000001036 2519 3.2.1.51 4008 protein-coding gene gene with protein product 136820 NA 6590153 Standard NM_032020 NM_032020 NA Approved MGC1314, dJ20N2.5 uc003qjm.3 Q9BTY2 OTTHUMG00000015728 ENST00000002165.6:c.1066A>G chr6.hg19:g.143823157T>C ENSP00000002165:p.Met356Val NA E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4 hg19 CCDS5200.1 0.02 4.015043 CCAxTTG COVERED 504 0.23076923076923078 164 0.3333333333333333 60 0.16574585635359115 104 0.18181818181818182 176 0.23218997361477572 T 11.97 1.797932 0.31777 0.319564 0.226163 ENSG00000001036 ENST00000002165;ENST00000451668 T;T 0.56941 0.43;0.43 5.98 5.98 0.97165 Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1); 0.074659 0.85682 D 0.000000 T 0.23370 0.0565 L 0.31420 0.93 0.09310 P 1.0 B;B 0.23128 0.08;0.044 B;B 0.24006 0.05;0.034 T 0.11227 -1.0596 9 0.20046 T 0.44 -24.5233 12.26 0.54645 0.0:0.0673:0.0:0.9327 rs3762002;rs17849713;rs17854672;rs52821129;rs60454233;rs3762002 35;356 Q7Z6V2;Q9BTY2 .;FUCO2_HUMAN V 356;35 ENSP00000002165:M356V;ENSP00000398119:M35V ENSP00000002165:M356V M - 1 0 FUCA2 143864850 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 4.814000 0.62627 2.288000 0.76882 0.528000 0.53228 ATG NOVEL FUCA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042521.2 4 34.292658 KEEP 0 0 0 114 3468 TT 1 0.999999 0 - 7 60 253 0 0 17.056355 113 60 3378 330 ENST00000002165.6 0.058333 0.999999 UTRN 7402 __UNKNOWN__ __UNKNOWN__ 6 145051594 145051594 __UNKNOWN__ Silent SNP G G A rs4305737 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:145051594G>A ENST00000367545.3 + 53 7911 c.7911G>A c.(7909-7911)gaG>gaA p.E2637E UTRN_ENST00000367526.4_Silent_p.E192E NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2637 NA aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCCCTGAAGAGCCAAGAAGAA 0.443 NA NA A||| 3219 0.642772 0.9123 0.6225 5008 , , NA 13715 0.8681 NA 0.2286 False NA ,,, NA NA NA 2504 0.4867 NA NA NA NA 0 A 3479,927 354.6+/-312.7 1376,727,100 67 73 71 7911 2.7 1 6 dbSNP_111 71 2174,6426 712.7+/-405.9 280,1614,2406 no coding-synonymous UTRN NM_007124.2 1656,2341,2506 AA,AG,GG 25.2791,21.0395,43.4646 2637/3434 145051594 5653,7353 2203 4300 6503 SO:0001819 synonymous_variant AK023675 CCDS34547.1 6q24 2008-02-05 2006-12-13 ENSG00000152818 ENSG00000152818 7402 12635 protein-coding gene gene with protein product 128240 utrophin (homologous to dystrophin) DMDL NA 1426262 Standard NM_007124 NA Approved DRP, DRP1 uc003qkt.3 P46939 OTTHUMG00000015746 ENST00000367545.3:c.7911G>A chr6.hg19:g.145051594G>A NA Q5SYY1|Q5SZ57|Q9UJ40 hg19 CCDS34547.1 0.02 -0.280732 AGAxCCA COVERED NOVEL UTRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042551.1 2 6.621726 KEEP 0 0 0 22 787 GG 0.999879 0.739582 0 + 3 60 93 0 0 6.409945 29 60 1033 74 ENST00000367545.3 0.09375 0.739671 GRM1 2911 __UNKNOWN__ __UNKNOWN__ 6 146758596 146758596 __UNKNOWN__ 3'UTR SNP G G C rs79394543 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:146758596G>C ENST00000282753.1 + 0 6484 GRM1_ENST00000361719.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 NA NA activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268) dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) CCTATACCAAGAGGGCCGAAA 0.368 NA NA G||| 223 0.0445288 0.1634 0.0101 5008 , , NA 16339 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U31215 CCDS5209.1, CCDS47497.1, CCDS64548.1 6q24 2014-06-12 ENSG00000152822 ENSG00000152822 2911 GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors 4593 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 85 604473 NA 9076744, 9376535 Standard NM_000838 NM_001278064 NA Approved GPRC1A, mGlu1, MGLUR1, PPP1R85 uc010khw.2 Q13255 OTTHUMG00000015752 ENST00000282753.1:c.*2664G>C chr6.hg19:g.146758596G>C NA B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0 hg19 CCDS5209.1 0.02 -0.254394 CAAxAGG COVERED NOVEL GRM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042574.1 4 4.815332 KEEP 0 0 0 16 545 GG 0.997832 0.667074 0 + 5 60 172 0 0 13.880774 23 60 785 59 ENST00000282753.1 0.178571 0.668523 STXBP5 134957 __UNKNOWN__ __UNKNOWN__ 6 147684765 147684765 __UNKNOWN__ Missense_Mutation SNP G G A rs200165087 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:147684765G>A ENST00000321680.6 + 24 2840 c.2840G>A c.(2839-2841)cGt>cAt p.R947H STXBP5_ENST00000367480.3_Missense_Mutation_p.R894H|STXBP5_ENST00000367481.3_Missense_Mutation_p.R911H|STXBP5_ENST00000179882.6_Missense_Mutation_p.R602H NM_001127715.2 NP_001121187.1 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 947 NA exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202) syntaxin-1 binding (GO:0017075) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TTTGTGCTTCGTGGAGATATT 0.373 NA NA G||| 1 0.000199681 0 0 5008 , , NA 18476 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 G HIS/ARG,HIS/ARG 0,4406 0,0,2203 111 101 105 2840,2732 4.8 0.9 6 105 1,8599 1.2+/-3.3 0,1,4299 no missense,missense STXBP5 NM_001127715.2,NM_139244.4 29,29 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 probably-damaging,probably-damaging 947/1152,911/1116 147684765 1,13005 2203 4300 6503 SO:0001583 missense AK055484 CCDS5211.1, CCDS47499.1 6q24.3 2013-01-10 ENSG00000164506 ENSG00000164506 134957 WD repeat domain containing 19665 protein-coding gene gene with protein product 604586 NA 9620695, 14767561 Standard NM_139244 NA Approved tomosyn, LLGL3 uc010khz.2 Q5T5C0 OTTHUMG00000015766 ENST00000321680.6:c.2840G>A chr6.hg19:g.147684765G>A ENSP00000321826:p.Arg947His NA Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9 hg19 CCDS47499.1 0.02 1.458659 TTCxTGG COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 17.60 3.431127 0.62844 0.0 1.16E-4 ENSG00000164506 ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882 T;T;T;T 0.65549 1.73;1.73;1.73;-0.16 5.64 4.77 0.60923 Lethal giant larvae (Lgl)-like, C-terminal (1); 0.000000 0.85682 D 0.000000 T 0.70806 0.3266 M 0.66506 2.035 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.996;0.998;0.998 T 0.75712 -0.3222 10 0.66056 D 0.02 . 14.304 0.66373 0.0713:0.0:0.9287:0.0 . 911;947;602 Q5T5C0-2;Q5T5C0;B3KXX0 .;STXB5_HUMAN;. H 911;947;894;602 ENSP00000356451:R911H;ENSP00000321826:R947H;ENSP00000356450:R894H;ENSP00000179882:R602H ENSP00000179882:R602H R + 2 0 STXBP5 147726458 1.000000 0.71417 0.900000 0.35374 0.993000 0.82548 9.476000 0.97823 1.390000 0.46547 0.591000 0.81541 CGT NOVEL STXBP5-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042606.1 3 11.43656 KEEP 0 0 0 38 1303 GG 1 0.997553 0 + 4 60 126 0 0 7.830566 67 60 2227 159 ENST00000321680.6 0.056338 0.997553 UST 10090 __UNKNOWN__ __UNKNOWN__ 6 149395082 149395082 __UNKNOWN__ Missense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:149395082G>A ENST00000367463.4 + 8 1154 c.1051G>A c.(1051-1053)Gtc>Atc p.V351I UST_ENST00000466695.1_3'UTR NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 351 NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) sulfotransferase activity (GO:0008146) breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) TTACCACTACGTCAAAGAGCA 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 134 120 125 NA NA 6 NA 149395082 2203 4300 6503 SO:0001583 missense AB020316 CCDS5213.1 6q25.1 2008-02-05 ENSG00000111962 ENSG00000111962 10090 Sulfotransferases, membrane-bound 17223 protein-coding gene gene with protein product 610752 NA 10187838 Standard NM_005715 NM_005715 NA Approved 2OST uc003qmg.3 Q9Y2C2 OTTHUMG00000016135 ENST00000367463.4:c.1051G>A chr6.hg19:g.149395082G>A ENSP00000356433:p.Val351Ile NA B2RCX6 hg19 CCDS5213.1 0.02 1.172877 TACxTCA COVERED . . . . . . . . . . G 13.32 2.200861 0.38905 . . ENSG00000111962 ENST00000367463 T 0.73789 -0.78 5.6 4.69 0.59074 . 0.117525 0.64402 N 0.000019 T 0.36358 0.0964 N 0.12502 0.225 0.42195 D 0.991746 B 0.33171 0.4 B 0.33890 0.172 T 0.33599 -0.9862 10 0.15066 T 0.55 -15.7114 10.4397 0.44457 0.1635:0.0:0.8365:0.0 . 351 Q9Y2C2 UST_HUMAN I 351 ENSP00000356433:V351I ENSP00000356433:V351I V + 1 0 UST 149436775 1.000000 0.71417 0.993000 0.49108 0.992000 0.81027 2.760000 0.47581 1.279000 0.44446 0.563000 0.77884 GTC NOVEL UST-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043363.1 0 17.753963 KEEP 0 0 0 59 1925 GG 1 0.999407 0 + 5 60 147 0 0 8.919235 77 60 2567 184 ENST00000367463.4 0.060976 0.999407 TAB2 23118 __UNKNOWN__ __UNKNOWN__ 6 149731476 149731476 __UNKNOWN__ 3'UTR SNP C C G rs7896 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:149731476C>G ENST00000367456.1 + 0 3280 TAB2_ENST00000286332.5_3'UTR|TAB2_ENST00000538427.1_3'UTR Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 NA NA activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886) K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 CGAAATACCCCAAAGCTTTTC 0.398 NA NA C||| 979 0.195487 0.2352 0.1888 5008 , , NA 19981 0.0923 NA 0.2535 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF241230 CCDS5214.1 6q25.1 2010-08-05 2010-02-05 2010-02-05 ENSG00000055208 ENSG00000055208 23118 17075 protein-coding gene gene with protein product 605101 mitogen-activated protein kinase kinase kinase 7 interacting protein 2 MAP3K7IP2 NA 9872452, 10882101 Standard XR_250046 NA Approved KIAA0733 uc010kib.2 Q9NYJ8 OTTHUMG00000015783 ENST00000367456.1:c.*621C>G chr6.hg19:g.149731476C>G NA B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7 hg19 CCDS5214.1 0.02 -0.403535 CCCxAAA COVERED NOVEL TAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042633.3 1 4.815766 KEEP 0 0 0 16 571 CC 0.997832 0.932466 0 + 3 60 100 0 0 6.647076 42 60 1444 83 ENST00000367456.1 0.066667 0.934492 ZC3H12D 340152 __UNKNOWN__ __UNKNOWN__ 6 149795522 149795522 __UNKNOWN__ Missense_Mutation SNP G G A rs7747948 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:149795522G>A ENST00000409948.1 - 2 310 c.158C>T c.(157-159)cCg>cTg p.P53L ZC3H12D_ENST00000409806.3_Missense_Mutation_p.P53L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.P53L|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.P53L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.P53L A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 53 NA P -> L (in dbSNP:rs7747948). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:19531561}. negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134) cytoplasm (GO:0005737)|nucleus (GO:0005634) endonuclease activity (GO:0004519)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) GGGTGCAGCCGGGTGCTCCAG 0.716 NA NA G||| 903 0.180312 0.2965 0.1902 5008 , , NA 14767 0.0169 NA 0.2465 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 G LEU/PRO 1027,2693 158,711,991 17 19 18 158 -0.3 0 6 dbSNP_116 18 2191,5983 305,1581,2201 no missense ZC3H12D NM_207360.2 98 463,2292,3192 AA,AG,GG 26.8045,27.6075,27.0557 benign 53/528 149795522 3218,8676 1860 4087 5947 SO:0001583 missense 6q25.1 2012-07-05 2005-06-30 2005-06-30 ENSG00000178199 ENSG00000178199 340152 Zinc fingers, CCCH-type domain containing 21175 protein-coding gene gene with protein product MCP induced protein 4 611106 chromosome 6 open reading frame 95 C6orf95 NA 18178554 Standard NM_207360 NM_207360 NA Approved dJ281H8.1, MCPIP4 uc010kid.3 A2A288 OTTHUMG00000015786 ENST00000409948.1:c.158C>T chr6.hg19:g.149795522G>A ENSP00000387062:p.Pro53Leu NA A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2 hg19 0.02 4.150546 GCCxGGT COVERED 450 0.20604395604395603 175 0.3556910569105691 72 0.19889502762430938 11 0.019230769230769232 192 0.2532981530343008 G 8.967 0.971885 0.18736 0.276075 0.268045 ENSG00000178199 ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614;ENST00000409948 T;T;T;T;T 0.43688 1.49;1.53;1.49;1.54;0.94 4.46 -0.297 0.12820 . . . . . T 0.09642 0.0237 L 0.39898 1.24 0.80722 P 0.0 B;P 0.36535 0.176;0.557 B;B 0.22880 0.012;0.042 T 0.11591 -1.0581 8 0.32370 T 0.25 -0.1115 5.0201 0.14356 0.0:0.2903:0.3337:0.376 rs7747948;rs17417830 53;53 A2A288;B7WNU7 ZC12D_HUMAN;. L 53 ENSP00000374592:P53L;ENSP00000408686:P53L;ENSP00000386616:P53L;ENSP00000440813:P53L;ENSP00000387062:P53L ENSP00000374592:P53L P - 2 0 ZC3H12D 149837215 0.000000 0.05858 0.001000 0.08648 0.046000 0.14306 -0.044000 0.12023 0.027000 0.15297 -0.457000 0.05445 CCG NOVEL ZC3H12D-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000042640.2 1 31.797109 KEEP 0 0 0 106 3476 GG 1 1 0 - 7 60 200 0 0 10.632759 167 60 5599 377 ENST00000409948.1 0.04023 1 LATS1 9113 __UNKNOWN__ __UNKNOWN__ 6 149981459 149981459 __UNKNOWN__ 3'UTR SNP A A G rs9767123 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:149981459A>G ENST00000543571.1 - 0 5346 NM_004690.3 NP_004681.1 large tumor suppressor kinase 1 NA NA central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TCTTTGCCCTAACTCTCCAAT 0.403 NA NA G||| 2813 0.561701 0.6112 0.6398 5008 , , NA 19364 0.8224 NA 0.3598 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF104413 CCDS34551.1, CCDS59040.1 6q25.1 2013-04-25 2013-04-25 ENSG00000131023 ENSG00000131023 9113 6514 protein-coding gene gene with protein product 603473 LATS (large tumor suppressor, Drosophila) homolog 1, LATS, large tumor suppressor, homolog 1 (Drosophila) NA 9988268, 15122335 Standard NM_004690 NM_004690 NA Approved WARTS uc003qmu.2 O95835 OTTHUMG00000016437 ENST00000543571.1:c.*1406T>C chr6.hg19:g.149981459A>G NA hg19 CCDS34551.1 0.02 -0.402324 CCTxACT COVERED NOVEL LATS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043923.4 3 3.609058 KEEP 0 0 0 12 341 AA 0.993634 0.928543 0 - 5 60 168 0 0 12.372379 40 60 1102 74 ENST00000543571.1 0.111111 0.934492 LATS1 9113 __UNKNOWN__ __UNKNOWN__ 6 149983216 149983216 __UNKNOWN__ Silent SNP G G A rs3924871 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:149983216G>A ENST00000543571.1 - 8 3589 c.3042C>T c.(3040-3042)gaC>gaT p.D1014D LATS1_ENST00000253339.5_Silent_p.D1014D NM_004690.3 NP_004681.1 large tumor suppressor kinase 1 NA NA central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CACTGGAGAAGTCAATTGTTT 0.373 NA NA A||| 2758 0.550719 0.5749 0.6326 5008 , , NA 17648 0.8214 NA 0.3588 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 A 2364,2042 567.4+/-382.1 638,1088,477 117 120 119 3042 3.1 1 6 dbSNP_108 119 3133,5467 657.0+/-401.4 552,2029,1719 no coding-synonymous LATS1 NM_004690.2 1190,3117,2196 AA,AG,GG 36.4302,46.3459,42.2651 1014/1131 149983216 5497,7509 2203 4300 6503 SO:0001819 synonymous_variant AF104413 CCDS34551.1, CCDS59040.1 6q25.1 2013-04-25 2013-04-25 ENSG00000131023 ENSG00000131023 9113 6514 protein-coding gene gene with protein product 603473 LATS (large tumor suppressor, Drosophila) homolog 1, LATS, large tumor suppressor, homolog 1 (Drosophila) NA 9988268, 15122335 Standard NM_004690 NM_004690 NA Approved WARTS uc003qmu.2 O95835 OTTHUMG00000016437 ENST00000543571.1:c.3042C>T chr6.hg19:g.149983216G>A NA hg19 CCDS34551.1 0.02 1.438084 GAAxTCA COVERED NOVEL LATS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043923.4 5 20.165922 KEEP 0 0 0 67 2374 GG 1 0.99994 0 - 5 60 147 0 0 8.570431 91 70 3195 247 ENST00000543571.1 0.052083 0.99994 PCMT1 5110 __UNKNOWN__ __UNKNOWN__ 6 150132319 150132319 __UNKNOWN__ 3'UTR SNP A A T rs4552 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:150132319A>T ENST00000464889.1 + 0 1747 PCMT1_ENST00000367384.2_3'UTR|PCMT1_ENST00000367380.5_3'UTR P22061 PIMT_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase NA NA protein methylation (GO:0006479)|protein repair (GO:0030091) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.221) OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207) ATATTAAACCATAAGATGGCA 0.358 NA NA T||| 3346 0.668131 0.9017 0.6715 5008 , , NA 19665 0.8343 NA 0.3668 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1 6q22.3-q24 2008-02-05 ENSG00000120265 ENSG00000120265 5110 2.1.1.77 8728 protein-coding gene gene with protein product 176851 NA 1478665, 10343128 Standard NM_005389 NA Approved uc003qne.3 P22061 OTTHUMG00000015794 ENST00000464889.1:c.*605A>T chr6.hg19:g.150132319A>T NA A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03 hg19 CCDS5219.2 0.02 1.698456 ACCxTAA COVERED NOVEL PCMT1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000042651.2 4 10.829212 KEEP 0 0 0 36 1064 AA 0.999999 0.979525 0 + 7 60 209 0 0 15.083046 49 60 1483 118 ENST00000464889.1 0.125 0.979526 IYD 389434 __UNKNOWN__ __UNKNOWN__ 6 150720494 150720494 __UNKNOWN__ 3'UTR SNP C C G rs9322260 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:150720494C>G ENST00000344419.3 + 0 2131 IYD_ENST00000229447.5_3'UTR NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase NA NA cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) CCCTTCTCTTCTACCCCAACC 0.478 NA NA C||| 1408 0.28115 0.1392 0.3573 5008 , , NA 19405 0.2073 NA 0.5089 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK129950 CCDS5227.1, CCDS55066.1, CCDS55067.1 6q25.1 2006-08-24 2006-08-24 2006-08-24 ENSG00000009765 ENSG00000009765 389434 21071 protein-coding gene gene with protein product 612025 chromosome 6 open reading frame 71 C6orf71 NA 16316988, 15289438 Standard NM_203395 NM_001164694 NA Approved dJ422F24.1, DEHAL1 uc003qnx.2 Q6PHW0 OTTHUMG00000016347 ENST00000344419.3:c.*1121C>G chr6.hg19:g.150720494C>G NA C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8 hg19 CCDS5227.1 0.02 1.809696 CTTxTAC COVERED NOVEL IYD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043754.3 1 11.135985 KEEP 0 0 0 37 1288 CC 1 0.994422 0 + 6 60 199 0 0 14.035019 60 60 2056 149 ENST00000344419.3 0.090909 0.994422 RMND1 55005 __UNKNOWN__ __UNKNOWN__ 6 151726047 151726047 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:151726047T>A ENST00000367303.4 - 0 1795 RMND1_ENST00000336451.3_3'UTR NM_017909.2 NP_060379.2 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog (S. cerevisiae) NA NA translation (GO:0006412) mitochondrion (GO:0005739) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) actgttgccctggctggagtg 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000634 CCDS5232.1, CCDS75539.1 6q25.1 2008-02-05 2006-11-24 2006-11-24 ENSG00000155906 ENSG00000155906 55005 21176 protein-coding gene gene with protein product 614917 chromosome 6 open reading frame 96 C6orf96 NA Standard NM_017909 NM_001271937 NA Approved bA351K16.3, FLJ20627, RMD1 uc003qoi.3 Q9NWS8 OTTHUMG00000015837 ENST00000367303.4:c.*323A>T chr6.hg19:g.151726047T>A NA A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7 hg19 CCDS5232.1 0.02 -0.420954 CCCxGGC COVERED NOVEL RMND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042718.2 9 5.952987 KEEP 0 1 32 31 990 TT 0.999997 0.9484 0 - 4 60 111 1 0 7.237251 39 60 1180 110 ENST00000367303.4 0.093023 0.948402 TCP1 6950 __UNKNOWN__ __UNKNOWN__ 6 160206631 160206631 __UNKNOWN__ Intron SNP T T C rs3818299 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:160206631T>C ENST00000321394.7 - 5 658 SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000420894.2_Intron NM_030752.2 NP_110379.2 P17987 TCPA_HUMAN t-complex 1 NA NA 'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021) acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082) breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) AGTAATAATATCCGTTCAGCC 0.378 NA NA T||| 1964 0.392173 0.2648 0.6081 5008 , , NA 18887 0.1637 NA 0.5437 False NA ,,, NA NA NA 2504 0.4908 NA NA NA NA 0 T , 515,1237 77,361,438 131 133 132 , 2 0.3 6 dbSNP_107 132 2255,1727 653,949,389 no intron,intron TCP1 NM_001008897.1,NM_030752.2 , 730,1310,827 CC,CT,TT 43.3702,29.395,48.3083 , , 160206631 2770,2964 876 1991 2867 SO:0001627 intron_variant X52882 CCDS5269.1, CCDS43522.1 6q25-q27 2012-10-02 ENSG00000120438 ENSG00000120438 6950 Heat Shock Proteins / Chaperonins 11655 protein-coding gene gene with protein product 186980 NA 3476253, 3653076 Standard NM_030752 NM_030752 NA Approved D6S230E, CCT1, Ccta uc003qsr.3 P17987 OTTHUMG00000015937 ENST00000321394.7:c.378-103A>G chr6.hg19:g.160206631T>C NA E1P5B2|Q15556|Q5TCM3 hg19 CCDS5269.1 0.02 1.734037 ATAxCCG COVERED NOVEL TCP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042917.2 6 13.840837 KEEP 0 0 0 46 1425 TT 1 0.999678 0 - 4 60 140 0 0 8.886725 82 60 2462 178 ENST00000321394.7 0.046512 0.999678 PLG 5340 __UNKNOWN__ __UNKNOWN__ 6 161139857 161139857 __UNKNOWN__ Silent SNP A A G rs13231 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:161139857A>G ENST00000308192.9 + 9 1146 c.1083A>G c.(1081-1083)caA>caG p.Q361Q NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 361 NA Q -> E (in Ref. 7; AA sequence and 9; AA sequence). {ECO:0000305}. blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771) blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093) apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CCACGGAACAATTGGCTCCCA 0.498 NA NA G||| 683 0.136382 0.1452 0.1744 5008 , , NA 17688 0 NA 0.2922 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 G 777,3629 752.2+/-412.3 59,659,1485 76 72 73 1083 -8.7 0 6 dbSNP_52 73 2587,6013 689.3+/-404.3 365,1857,2078 no coding-synonymous PLG NM_000301.3 424,2516,3563 GG,GA,AA 30.0814,17.635,25.865 361/811 161139857 3364,9642 2203 4300 6503 SO:0001819 synonymous_variant M74220 CCDS5279.1, CCDS55074.1 6q26 2012-10-02 ENSG00000122194 ENSG00000122194 5340 9071 protein-coding gene gene with protein product 173350 NA Standard NM_000301 NM_000301 NA Approved uc003qtm.4 P00747 OTTHUMG00000015957 ENST00000308192.9:c.1083A>G chr6.hg19:g.161139857A>G NA Q15146|Q5TEH4|Q6PA00 hg19 CCDS5279.1 0.02 -0.359401 ACAxTTG COVERED NOVEL PLG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042959.2 5 6.619433 KEEP 0 0 0 22 673 AA 0.999879 0.888767 0 + 4 60 113 0 0 7.60492 36 60 1054 83 ENST00000308192.9 0.1 0.888875 C6orf118 168090 __UNKNOWN__ __UNKNOWN__ 6 165693624 165693624 __UNKNOWN__ Intron SNP C C T rs1413100 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:165693624C>T ENST00000230301.8 - 9 1377 C6orf118_ENST00000494696.2_Intron NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 NA NA breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GAAATGAATACCATAGGTTAG 0.299 NA NA C||| 2218 0.442891 0.2126 0.438 5008 , , NA 17297 0.5496 NA 0.5875 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 C 1142,3264 399.5+/-331.2 153,836,1214 52 48 49 -3.1 0 6 dbSNP_88 49 5166,3428 629.1+/-398.2 1580,2006,711 no intron C6orf118 NM_144980.3 1733,2842,1925 TT,TC,CC 39.8883,25.9192,48.5231 165693624 6308,6692 2203 4297 6500 SO:0001627 intron_variant CCDS5288.1 6q27 2012-02-06 ENSG00000112539 ENSG00000112539 168090 21233 protein-coding gene gene with protein product NA NA Standard NM_144980 NM_144980 NA Approved MGC23884, bA85G2.1 uc003qum.4 Q5T5N4 OTTHUMG00000015984 ENST00000230301.8:c.1357-25G>A chr6.hg19:g.165693624C>T NA Q8TC11 hg19 CCDS5288.1 0.02 -0.254401 ATAxCAT COVERED NOVEL C6orf118-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000043026.1 3 6.922376 KEEP 0 0 0 23 794 CC 0.999892 0.668451 0 - 6 60 186 0 0 15.042833 23 60 791 61 ENST00000230301.8 0.206897 0.668523 PDE10A 10846 __UNKNOWN__ __UNKNOWN__ 6 165742365 165742365 __UNKNOWN__ 3'UTR SNP T T C rs551444 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:165742365T>C ENST00000366882.1 - 0 6643 PDE10A_ENST00000354448.4_3'UTR Q9Y233 PDE10_HUMAN phosphodiesterase 10A NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165) cytosol (GO:0005829) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814) ATTTAAACAATATAAATGGTT 0.333 NA NA T||| 1324 0.264377 0.3343 0.2594 5008 , , NA 17642 0.2599 NA 0.174 False NA ,,, NA NA NA 2504 0.271 NA NA NA Esophageal Squamous(22;308 615 5753 12038 40624) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020593 CCDS47513.1 6q26 2008-03-18 ENSG00000112541 ENSG00000112541 10846 3.1.4.17 Phosphodiesterases 8772 protein-coding gene gene with protein product 610652 NA 10373451 Standard NM_001130690 NA Approved uc003quo.3 Q9Y233 OTTHUMG00000015986 ENST00000366882.1:c.*4149A>G chr6.hg19:g.165742365T>C NA Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1 hg19 0.02 -0.324465 CAAxATA COVERED NOVEL PDE10A-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000043031.1 2 3.610071 KEEP 0 0 0 12 353 TT 0.993634 0.830395 0 - 3 60 101 0 0 7.011982 34 60 995 63 ENST00000366882.1 0.081081 0.835716 CCR6 1235 __UNKNOWN__ __UNKNOWN__ 6 167549775 167549775 __UNKNOWN__ Silent SNP T T C rs3093007 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:167549775T>C ENST00000341935.5 + 3 609 c.57T>C c.(55-57)ttT>ttC p.F19F CCR6_ENST00000349984.4_Silent_p.F19F|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.F19F NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 19 NA cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872) endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) AAGATTATTTTGTGTCAGTCA 0.418 NA NA T||| 655 0.130791 0.1778 0.1167 5008 , , NA 22549 0.0476 NA 0.1759 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 T , 777,3629 315.8+/-294.3 79,619,1505 149 147 148 57,57 -3.2 0 6 dbSNP_103 148 1594,7006 297.5+/-303.5 149,1296,2855 no coding-synonymous,coding-synonymous CCR6 NM_004367.5,NM_031409.3 , 228,1915,4360 CC,CT,TT 18.5349,17.635,18.23 , 19/375,19/375 167549775 2371,10635 2203 4300 6503 SO:0001819 synonymous_variant U68030 CCDS5298.1 6q27 2012-08-08 ENSG00000112486 ENSG00000112486 1235 GPCR / Class A : Chemokine receptors : C-C motif, CD molecules 1607 protein-coding gene gene with protein product 601835 STRL22 NA 8886020 Standard NM_031409 NA Approved CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196 uc010kkm.3 P51684 OTTHUMG00000016015 ENST00000341935.5:c.57T>C chr6.hg19:g.167549775T>C NA E1P5C6|P78553|Q92846 hg19 CCDS5298.1 0.02 1.604928 TTTxGTG COVERED NOVEL CCR6-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043118.1 4 16.84853 KEEP 0 0 0 56 1707 TT 1 0.998993 0 + 4 60 134 0 0 8.46133 74 60 2231 187 ENST00000341935.5 0.051282 0.998993 MLLT4 4301 __UNKNOWN__ __UNKNOWN__ 6 168364813 168364813 __UNKNOWN__ Intron SNP T T G rs1418 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:168364813T>G ENST00000447894.2 + 30 4947 MLLT4_ENST00000351017.4_Intron|MLLT4_ENST00000400822.3_Intron|MLLT4_ENST00000392108.3_3'UTR|MLLT4_ENST00000366806.2_Intron|MLLT4_ENST00000392112.1_Intron P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 NA NA adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165) apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein C-terminus binding (GO:0008022) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TCATGATTATTTGAAATACAC 0.353 NA NA T MLL AL G||| 2790 0.557109 0.4228 0.5634 5008 , , NA 20093 0.8006 NA 0.4076 False NA ,,, NA NA NA 2504 0.637 NA NA NA Dom yes 6 6q27 4301 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011399 CCDS47517.1, CCDS75553.1 6q27 2008-02-05 2001-11-28 ENSG00000130396 ENSG00000130396 4301 7137 protein-coding gene gene with protein product 159559 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4 NA 8242616 Standard NM_005936 NM_001040000 NA Approved AF-6, AF6 uc021zij.1 P55196 OTTHUMG00000016031 ENST00000447894.2:c.4947+1566T>G chr6.hg19:g.168364813T>G NA O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92 hg19 0.02 1.79266 TATxTGA COVERED NOVEL MLLT4-013 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000372077.1 4 7.8208 KEEP 0 0 0 26 771 TT 0.999957 0.995644 0 + 4 60 137 0 0 9.033318 63 60 1844 120 ENST00000447894.2 0.059701 0.995687 MLLT4 4301 __UNKNOWN__ __UNKNOWN__ 6 168364871 168364871 __UNKNOWN__ Intron SNP G G A rs1415 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:168364871G>A ENST00000447894.2 + 31 4947 MLLT4_ENST00000351017.4_Intron|MLLT4_ENST00000400822.3_Intron|MLLT4_ENST00000392108.3_3'UTR|MLLT4_ENST00000366806.2_Intron|MLLT4_ENST00000392112.1_Intron P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 NA NA adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165) apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein C-terminus binding (GO:0008022) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GTAAAAAGGCGAATAACCTAT 0.294 NA NA T MLL AL G||| 1737 0.346845 0.1505 0.3415 5008 , , NA 19397 0.6022 NA 0.3032 False NA ,,, NA NA NA 2504 0.3978 NA NA NA Dom yes 6 6q27 4301 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011399 CCDS47517.1, CCDS75553.1 6q27 2008-02-05 2001-11-28 ENSG00000130396 ENSG00000130396 4301 7137 protein-coding gene gene with protein product 159559 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4 NA 8242616 Standard NM_005936 NM_001040000 NA Approved AF-6, AF6 uc021zij.1 P55196 OTTHUMG00000016031 ENST00000447894.2:c.4948-1566G>A chr6.hg19:g.168364871G>A NA O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92 hg19 0.02 1.37708 GGCxAAT COVERED NOVEL MLLT4-013 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000372077.1 2 12.63982 KEEP 0 0 0 42 1405 GG 1 0.996724 0 + 4 60 128 0 0 8.055111 66 60 2175 164 ENST00000447894.2 0.057143 0.996724 SMOC2 64094 __UNKNOWN__ __UNKNOWN__ 6 169064933 169064933 __UNKNOWN__ Intron SNP T T C rs2275919 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:169064933T>C ENST00000356284.2 + 12 1543 SMOC2_ENST00000354536.5_Intron|SMOC2_ENST00000477998.1_Intron NM_001166412.1 NP_001159884.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 NA NA extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165) basement membrane (GO:0005604)|interstitial matrix (GO:0005614) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) GCAAGCTTACTGACTACACCC 0.328 NA NA T||| 1759 0.351238 0.0613 0.4323 5008 , , NA 13926 0.2996 NA 0.5895 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014730 CCDS5307.1, CCDS55076.1 6q27 2013-01-10 ENSG00000112562 ENSG00000112562 64094 EF-hand domain containing 20323 protein-coding gene gene with protein product 607223 NA 12031507 Standard NM_022138 NA Approved SMAP2 uc003qwr.2 Q9H3U7 OTTHUMG00000016050 ENST00000356284.2:c.1323+142T>C chr6.hg19:g.169064933T>C NA B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2 hg19 CCDS55076.1 0.02 1.599186 TACxGAC COVERED NOVEL SMOC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043201.1 3 12.638644 KEEP 0 0 0 42 1325 TT 1 0.999835 0 + 4 60 137 0 0 8.506583 86 60 2639 200 ENST00000356284.2 0.044444 0.999835 THBS2 7058 __UNKNOWN__ __UNKNOWN__ 6 169646225 169646225 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:169646225T>C ENST00000366787.3 - 5 944 NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 NA NA cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965) basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) cacacacacatacacCATGTC 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(91;219 1934 18562 44706) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34574.1 6q27 2008-07-28 ENSG00000186340 ENSG00000186340 7058 11786 protein-coding gene gene with protein product 188061 NA 18455130 Standard NM_003247 NM_003247 NA Approved TSP2 uc003qwt.3 P35442 OTTHUMG00000045408 ENST00000366787.3:c.694+66A>G chr6.hg19:g.169646225T>C NA A6H8N1|A7E232|Q5RI52 hg19 CCDS34574.1 0.02 5.26251 ACAxACA COVERED NOVEL THBS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000105439.1 67 23.23793 KEEP 0 3 105 114 3124 TT 1 1 0 - 9 60 297 1 0 19.227529 141 60 3773 404 ENST00000366787.3 0.06 1 PHF10 55274 __UNKNOWN__ __UNKNOWN__ 6 170112551 170112551 __UNKNOWN__ Missense_Mutation SNP G G C rs201451528 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:170112551G>C ENST00000339209.4 - 8 1011 c.888C>G c.(886-888)gaC>gaG p.D296E PHF10_ENST00000366780.4_Missense_Mutation_p.D294E NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 296 Essential to induce neural progenitor proliferation. {ECO:0000250}. NA nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) npBAF complex (GO:0071564) zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) CACCATCACTGTCTAGAGCAG 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 157 154 155 NA NA 6 NA 170112551 2203 4300 6503 SO:0001583 missense AF338735 CCDS5308.2, CCDS5309.2 6q27 2014-05-13 ENSG00000130024 ENSG00000130024 55274 Zinc fingers, PHD-type 18250 protein-coding gene gene with protein product 613069 NA 11827455 Standard NM_018288 NM_018288 NA Approved FLJ10975, XAP135, BAF45a uc011egy.2 Q8WUB8 OTTHUMG00000016058 ENST00000339209.4:c.888C>G chr6.hg19:g.170112551G>C ENSP00000341805:p.Asp296Glu NA Q2YDA3|Q53HG8|Q9BXD2|Q9NV26 hg19 CCDS5308.2 0.02 1.730855 ACTxTCT COVERED . . . . . . . . . . G 15.04 2.714194 0.48622 . . ENSG00000130024 ENST00000366780;ENST00000339209 D;D 0.88818 -2.43;-2.42 5.35 -4.75 0.03239 . 0.044478 0.85682 N 0.000000 T 0.66790 0.2825 L 0.35723 1.085 0.45183 D 0.998196 B;B;B 0.12630 0.0;0.001;0.006 B;B;B 0.11329 0.003;0.006;0.003 T 0.38650 -0.9651 10 0.41790 T 0.15 -23.5521 8.448 0.32854 0.4063:0.0953:0.4984:0.0 . 208;294;296 Q5T069;Q8WUB8-2;Q8WUB8 .;.;PHF10_HUMAN E 294;296 ENSP00000355743:D294E;ENSP00000341805:D296E ENSP00000341805:D296E D - 3 2 PHF10 169854476 0.999000 0.42202 0.152000 0.22495 0.970000 0.65996 0.445000 0.21677 -1.407000 0.02043 0.585000 0.79938 GAC NOVEL PHF10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000346732.1 0 2.980576 KEEP 0 2 66 33 1169 GG 0.999999 0.998464 0 - 7 60 215 0 0 14.770526 68 60 2358 164 ENST00000339209.4 0.093333 0.998465 DLL1 28514 __UNKNOWN__ __UNKNOWN__ 6 170591923 170591923 __UNKNOWN__ 3'UTR SNP T T G rs1033583 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr6:170591923T>G ENST00000366756.3 - 0 2544 NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) NA NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757) cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|Notch binding (GO:0005112) NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) ATTTTACTTATTTTAAGAGAA 0.507 NA NA T||| 1254 0.250399 0.2088 0.2565 5008 , , NA 16317 0.2411 NA 0.325 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 T 927,3479 354.1+/-312.5 76,775,1352 89 98 95 1.9 0 6 dbSNP_86 95 2964,5636 460.6+/-365.2 505,1954,1841 no utr-3 DLL1 NM_005618.3 581,2729,3193 GG,GT,TT 34.4651,21.0395,29.917 170591923 3891,9115 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF003522 CCDS5313.1 6q13-q22.33 2008-07-28 2001-12-03 ENSG00000198719 ENSG00000198719 28514 2908 protein-coding gene gene with protein product 606582 delta (Drosophila)-like 1 NA Standard NM_005618 NA Approved uc003qxm.3 O00548 OTTHUMG00000016078 ENST00000366756.3:c.*39A>C chr6.hg19:g.170591923T>G NA B2RAK7|B5M0B3|Q9NU41|Q9UJV2 hg19 CCDS5313.1 0.02 3.988731 TTAxTTT COVERED NOVEL DLL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043254.1 4 20.491794 KEEP 0 1 31 79 2421 TT 1 0.999999 0 - 5 60 170 0 0 10.296895 119 60 3586 298 ENST00000366756.3 0.040323 0.999999 HEATR2 54919 __UNKNOWN__ __UNKNOWN__ 7 821902 821902 __UNKNOWN__ Intron SNP A A G rs201517437 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:821902A>G ENST00000403952.3 + 5 1379 HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000297440.6_Intron Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 NA NA cytoplasm (GO:0005737) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CGGCGTGGCCACCTCCCGACA 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832914, AK000404, NM_017802, AK056233 CCDS34580.1 7p22.3 2014-05-06 2006-05-19 ENSG00000164818 ENSG00000164818 54919 26013 protein-coding gene gene with protein product 614864 NA 23040496 Standard NM_017802 NM_017802 NA Approved FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18 uc010krz.1 Q86Y56 OTTHUMG00000151416 ENST00000403952.3:c.706+2121A>G chr7.hg19:g.821902A>G NA Q69YL1|Q96FI9|Q9NX75 hg19 0.02 12.251641 GCCxCCT COVERED NOVEL HEATR2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000322546.1 2 8.902509 KEEP 1 17 534 217 6181 AA 1 1 0 + 14 60 450 0 0 27.005925 293 60 8397 800 ENST00000403952.3 0.045603 1 PAPOLB 56903 __UNKNOWN__ __UNKNOWN__ 7 4898695 4898695 __UNKNOWN__ 3'UTR SNP T T G rs34928860 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:4898695T>G ENST00000404991.1 - 0 2930 RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) NA NA mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723) kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) GACCTACTAATGGTTGATGTC 0.348 NA NA T||| 1509 0.301318 0.2315 0.2853 5008 , , NA 19086 0.3571 NA 0.2515 False NA ,,, NA NA NA 2504 0.4008 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF218840 7p22.1 2008-02-08 ENSG00000218823 ENSG00000218823 56903 2.7.7.19 15970 protein-coding gene gene with protein product 607436 NA 11150526 Standard NM_020144 NM_020144 NA Approved PAPT uc003snk.3 Q9NRJ5 OTTHUMG00000151759 ENST00000404991.1:c.*833A>C chr7.hg19:g.4898695T>G NA Q75LH1|Q8NE14 hg19 0.02 -0.359579 TAAxGGT COVERED NOVEL PAPOLB-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000323797.1 3 6.918244 KEEP 0 0 0 23 687 TT 0.999892 0.888779 0 - 4 60 143 0 0 10.517883 37 60 1100 94 ENST00000404991.1 0.097561 0.888875 OCM 654231 __UNKNOWN__ __UNKNOWN__ 7 5920368 5920368 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:5920368T>C ENST00000416608.1 + 2 137 P0CE72 ONCO_HUMAN oncomodulin NA NA calcium ion binding (GO:0005509) endometrium(1)|large_intestine(3)|lung(2) 6 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) ccagcctgggtgacagagtga 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC069468 CCDS43548.1 7p22.1 2013-01-10 654231 EF-hand domain containing 8105 protein-coding gene gene with protein product oncomodulin 1 164795 NA 1559707, 8354278 Standard NM_001097622 NM_001097622 NA Approved OCM1 uc003spe.4 P0CE72 ENST00000416608.1:c.-3-150T>C chr7.hg19:g.5920368T>C NA B9EJH7|P32930|Q6ISI5|Q75MW0 hg19 CCDS43548.1 0.02 2.09695 GGGxGAC COVERED NOVEL OCM-002 KNOWN alternative_5_UTR|not_organism_supported|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340373.1 7 9.001235 KEEP 0 0 0 30 806 TT 0.999997 0.979524 0 + 4 60 142 0 0 10.021994 47 60 1311 109 ENST00000416608.1 0.078431 0.979526 RAC1 5879 __UNKNOWN__ __UNKNOWN__ 7 6426954 6426954 __UNKNOWN__ Intron SNP G G A rs3729790 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:6426954G>A ENST00000348035.4 + 2 320 RAC1_ENST00000356142.4_Intron|RAC1_ENST00000488373.1_Intron NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) NA NA actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802) enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996) cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Dextromethorphan(DB00514) TTTGTGTTACGGGTTTCACAT 0.333 NA NA G||| 807 0.161142 0.0492 0.1787 5008 , , NA 17801 0.2629 NA 0.2167 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 G , 366,4040 176.6+/-205.7 14,338,1851 57 58 58 , -4.5 0 7 dbSNP_107 58 1893,6705 326.7+/-317.5 231,1431,2637 no intron,intron RAC1 NM_006908.4,NM_018890.3 , 245,1769,4488 AA,AG,GG 22.0167,8.3069,17.3716 , , 6426954 2259,10745 2203 4299 6502 SO:0001627 intron_variant AJ132695 CCDS5348.1, CCDS5349.1 7p22 2014-01-30 ENSG00000136238 ENSG00000136238 5879 Endogenous ligands 9801 protein-coding gene gene with protein product 602048 NA 2674130, 10597294 Standard NM_018890 NM_006908 NA Approved TC-25, p21-Rac1, Rac-1 uc003spw.3 P63000 OTTHUMG00000023540 ENST00000348035.4:c.107+40G>A chr7.hg19:g.6426954G>A NA O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4 hg19 CCDS5348.1 0.02 1.27189 TACxGGT COVERED NOVEL RAC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242868.2 4 10.164138 KEEP 0 1 32 45 1500 GG 1 0.999407 0 + 4 60 128 0 0 7.795756 77 60 2499 175 ENST00000348035.4 0.049383 0.999407 CCZ1B 221960 __UNKNOWN__ __UNKNOWN__ 7 6854506 6854506 __UNKNOWN__ Intron SNP C C T rs138393587 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:6854506C>T ENST00000316731.8 - 8 1271 CCZ1B_ENST00000538180.1_Intron NM_198097.3 NP_932765.1 P86790 CCZ1B_HUMAN CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) NA NA lysosome (GO:0005764)|membrane (GO:0016020) NA CTGGGTTAAACGTTTCGAACT 0.348 NA NA .||| 225 0.0449281 0.0772 0.0432 5008 , , NA 15474 0 NA 0.0596 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 C 312,4088 69,174,1957 127 114 119 -2.9 0 7 dbSNP_134 119 686,7908 93,500,3704 no intron C7orf28B NM_198097.3 162,674,5661 TT,TC,CC 7.9823,7.0909,7.6805 6854506 998,11996 2200 4297 6497 SO:0001627 intron_variant BC010130 CCDS5354.1 7p22.2 2011-11-24 2011-11-24 2011-11-24 ENSG00000146574 ENSG00000146574 221960 21717 protein-coding gene gene with protein product similar to CGI-43 protein NA chromosome 7 open reading frame 28B C7orf28B NA 12477932 Standard NM_198097 NM_198097 NA Approved DKFZP586I1023, H_NH0577018.2, MGC19819 uc003sqx.2 P86790 OTTHUMG00000152441 ENST00000316731.8:c.699-30G>A chr7.hg19:g.6854506C>T NA A2RU45|O95766|Q9UG65|Q9Y359 hg19 CCDS5354.1 0.02 -0.368423 AAAxGTT COVERED NOVEL CCZ1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246858.1 3 12.037565 KEEP 9 0 0 40 1346 CC 0.999999 0.899313 0 - 4 49 125 0 0 8.675313 38 55 1260 119 ENST00000316731.8 0.095238 0.899314 COL28A1 340267 __UNKNOWN__ __UNKNOWN__ 7 7492995 7492995 __UNKNOWN__ Intron SNP C C T rs17167926 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:7492995C>T ENST00000399429.3 - 17 1581 NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 NA NA cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TGCTGTCTTCCCTTGCACTGG 0.348 NA NA C||| 306 0.0611022 0.0598 0.0692 5008 , , NA 17347 0.0417 NA 0.0855 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ890451 CCDS43553.1 7p21.3 2013-01-16 ENSG00000215018 ENSG00000215018 340267 Collagens 22442 protein-coding gene gene with protein product 609996 NA 16330543 Standard NM_001037763 NM_001037763 NA Approved uc003src.1 Q2UY09 OTTHUMG00000150034 ENST00000399429.3:c.1440+75G>A chr7.hg19:g.7492995C>T NA A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08 hg19 CCDS43553.1 0.02 -0.315809 TTCxCTT COVERED NOVEL COL28A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315899.1 1 6.921757 KEEP 0 0 0 23 778 CC 0.999892 0.818376 0 - 3 60 97 0 0 6.649117 33 60 1134 84 ENST00000399429.3 0.083333 0.818465 TMEM106B 54664 __UNKNOWN__ __UNKNOWN__ 7 12274208 12274208 __UNKNOWN__ 3'UTR SNP G G T rs13309255 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:12274208G>T ENST00000396667.3 + 0 3754 NM_018374.3 NP_060844.2 Q9NUM4 T106B_HUMAN transmembrane protein 106B NA NA cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) NS(1)|endometrium(8)|large_intestine(2)|lung(7) 18 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) AATGTCCAGTGTGCTTTTTTC 0.358 NA NA G||| 140 0.0279553 0.0053 0.0533 5008 , , NA 16758 0 NA 0.0795 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC033901 CCDS5358.1 7p21.3 2012-06-06 ENSG00000106460 ENSG00000106460 54664 22407 protein-coding gene gene with protein product 613413 NA 20154673, 22511793 Standard NM_018374 NM_018374 NA Approved MGC33727, FLJ11273 uc003ssh.3 Q9NUM4 OTTHUMG00000125537 ENST00000396667.3:c.*2607G>T chr7.hg19:g.12274208G>T NA A4D108|Q53FL9|Q8N4L0 hg19 CCDS5358.1 0.02 1.234246 AGTxTGC COVERED NOVEL TMEM106B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246870.3 3 7.223401 KEEP 0 0 0 24 858 GG 0.999909 0.998375 0 + 6 60 174 0 0 11.193388 69 60 2411 143 ENST00000396667.3 0.08 0.998465 TMEM106B 54664 __UNKNOWN__ __UNKNOWN__ 7 12274933 12274933 __UNKNOWN__ 3'UTR SNP A A G rs71529336 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:12274933A>G ENST00000396667.3 + 0 4479 NM_018374.3 NP_060844.2 Q9NUM4 T106B_HUMAN transmembrane protein 106B NA NA cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) NS(1)|endometrium(8)|large_intestine(2)|lung(7) 18 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) AATAGTATGAAAATATTAGAT 0.234 NA NA A||| 140 0.0279553 0.0053 0.0533 5008 , , NA 12860 0 NA 0.0795 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC033901 CCDS5358.1 7p21.3 2012-06-06 ENSG00000106460 ENSG00000106460 54664 22407 protein-coding gene gene with protein product 613413 NA 20154673, 22511793 Standard NM_018374 NM_018374 NA Approved MGC33727, FLJ11273 uc003ssh.3 Q9NUM4 OTTHUMG00000125537 ENST00000396667.3:c.*3332A>G chr7.hg19:g.12274933A>G NA A4D108|Q53FL9|Q8N4L0 hg19 CCDS5358.1 0.02 -0.324506 TGAxAAT COVERED NOVEL TMEM106B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246870.3 1 4.513617 KEEP 0 0 0 15 470 AA 0.99649 0.832783 0 + 3 60 106 0 0 7.511196 34 60 1051 65 ENST00000396667.3 0.081081 0.835716 SCIN 85477 __UNKNOWN__ __UNKNOWN__ 7 12693140 12693140 __UNKNOWN__ 3'UTR SNP A A G rs2033604 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:12693140A>G ENST00000297029.5 + 0 3049 SCIN_ENST00000445618.2_3'UTR|SCIN_ENST00000519209.1_3'UTR NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin NA NA actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234) 1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786) endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TTTAGTCAATATGACTTTGAT 0.289 NA NA G||| 2972 0.59345 0.6619 0.6657 5008 , , NA 19009 0.4435 NA 0.67 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF276507 CCDS47545.1, CCDS47546.1 7p21.3 2006-04-25 ENSG00000006747 ENSG00000006747 85477 21695 protein-coding gene gene with protein product 613416 NA Standard NM_033128 NM_033128 NA Approved adseverin, KIAA1905 uc003ssn.4 Q9Y6U3 OTTHUMG00000152385 ENST00000297029.5:c.*800A>G chr7.hg19:g.12693140A>G NA A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2 hg19 CCDS47545.1 0.02 -0.342064 AATxTGA COVERED NOVEL SCIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326041.1 2 3.908403 KEEP 0 0 0 13 375 AA 0.994391 0.860889 0 + 4 60 140 0 0 10.309355 35 60 1049 67 ENST00000297029.5 0.102564 0.865745 ARL4A 10124 __UNKNOWN__ __UNKNOWN__ 7 12730362 12730362 __UNKNOWN__ 3'UTR SNP A A G rs35689560 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:12730362A>G ENST00000396663.1 + 0 2965 NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3 NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A NA NA brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525) NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) CTGTGTATCAATTAGATTTAC 0.348 NA NA A||| 1234 0.246406 0.1959 0.2478 5008 , , NA 16913 0.1369 NA 0.4145 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U73960 CCDS5359.1 7p21.3 2014-05-09 2005-11-03 2005-11-03 ENSG00000122644 ENSG00000122644 10124 ADP-ribosylation factors-like, ADP-ribosylation factors 695 protein-coding gene gene with protein product 604786 ADP-ribosylation factor-like 4 ARL4 NA Standard NM_005738 NM_212460 NA Approved uc003ssq.3 P40617 OTTHUMG00000023374 ENST00000396663.1:c.*1880A>G chr7.hg19:g.12730362A>G NA A4D119|P80418|Q49AF5 hg19 CCDS5359.1 0.02 2.144089 TCAxTTA COVERED NOVEL ARL4A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326036.1 4 8.404059 KEEP 0 0 0 28 835 AA 0.999997 0.990961 0 + 6 60 207 0 0 15.095809 54 60 1624 116 ENST00000396663.1 0.1 0.990964 MACC1 346389 __UNKNOWN__ __UNKNOWN__ 7 20178865 20178865 __UNKNOWN__ 3'UTR SNP C C T rs2241056 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:20178865C>T ENST00000400331.5 - 0 4571 NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 NA NA positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TTTATCCTTTCACTCCTTCAC 0.478 NA NA C||| 612 0.122204 0.0144 0.0692 5008 , , NA 16928 0.2341 NA 0.1044 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5369.1 7p15.3 2008-10-14 ENSG00000183742 ENSG00000183742 346389 30215 protein-coding gene gene with protein product 612646 NA Standard NM_182762 NM_182762 NA Approved 7A5, SH3BP4L uc003sus.4 Q6ZN28 OTTHUMG00000128415 ENST00000400331.5:c.*1704G>A chr7.hg19:g.20178865C>T NA A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5 hg19 CCDS5369.1 0.02 0.933906 TTTxACT COVERED NOVEL MACC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250202.5 8 12.972444 KEEP 0 1 28 53 1732 CC 1 0.999948 0 - 5 60 139 0 0 7.776271 91 60 2996 204 ENST00000400331.5 0.052083 0.999948 ABCB5 340273 __UNKNOWN__ __UNKNOWN__ 7 20699053 20699053 __UNKNOWN__ Intron SNP T T C rs73684671 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:20699053T>C ENST00000404938.2 + 14 2359 ABCB5_ENST00000406935.1_Intron|ABCB5_ENST00000443026.2_3'UTR|ABCB5_ENST00000258738.6_Intron NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 NA NA antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GGCTTCTTTTTTTAAAATGCT 0.358 NA NA T||| 601 0.120008 0.2042 0.0836 5008 , , NA 17644 0.0248 NA 0.0646 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U66692 CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1 7p14 2012-03-14 ENSG00000004846 ENSG00000004846 340273 ATP binding cassette transporters / subfamily B 46 protein-coding gene gene with protein product P-glycoprotein ABCB5, ATP-binding cassette protein 611785 NA 8894702, 12960149 Standard NM_178559 NM_001163942 NA Approved EST422562, ABCB5beta, ABCB5alpha uc010kuh.3 Q2M3G0 OTTHUMG00000094789 ENST00000404938.2:c.1707+754T>C chr7.hg19:g.20699053T>C NA A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1 hg19 CCDS55090.1 0.02 -0.377123 TTTxTTA COVERED NOVEL ABCB5-004 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000326736.2 4 6.918882 KEEP 0 0 0 23 671 TT 0.999892 0.908971 0 + 3 70 101 0 0 6.808697 40 60 1209 82 ENST00000404938.2 0.069767 0.909069 ABCB5 340273 __UNKNOWN__ __UNKNOWN__ 7 20699058 20699058 __UNKNOWN__ Intron SNP A A G rs73684672 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:20699058A>G ENST00000404938.2 + 14 2359 ABCB5_ENST00000406935.1_Intron|ABCB5_ENST00000443026.2_3'UTR|ABCB5_ENST00000258738.6_Intron NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 NA NA antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CTTTTTTTAAAATGCTGACTT 0.353 NA NA A||| 601 0.120008 0.2042 0.0836 5008 , , NA 17506 0.0248 NA 0.0646 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U66692 CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1 7p14 2012-03-14 ENSG00000004846 ENSG00000004846 340273 ATP binding cassette transporters / subfamily B 46 protein-coding gene gene with protein product P-glycoprotein ABCB5, ATP-binding cassette protein 611785 NA 8894702, 12960149 Standard NM_178559 NM_001163942 NA Approved EST422562, ABCB5beta, ABCB5alpha uc010kuh.3 Q2M3G0 OTTHUMG00000094789 ENST00000404938.2:c.1707+759A>G chr7.hg19:g.20699058A>G NA A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1 hg19 CCDS55090.1 0.02 -0.394123 TAAxATG COVERED NOVEL ABCB5-004 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000326736.2 4 8.12399 KEEP 0 0 0 27 835 AA 0.999988 0.926628 0 + 3 70 105 0 0 7.148679 42 60 1235 89 ENST00000404938.2 0.066667 0.92664 FAM126A 84668 __UNKNOWN__ __UNKNOWN__ 7 22982207 22982207 __UNKNOWN__ 3'UTR SNP T T C rs2286495 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:22982207T>C ENST00000432176.2 - 0 4799 NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 CAAGAATCTATAGAGATTTAA 0.423 NA NA T||| 2142 0.427716 0.3918 0.3545 5008 , , NA 16460 0.5139 NA 0.4085 False NA ,,, NA NA NA 2504 0.4591 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018710 CCDS5377.1 7p15.3 2008-10-02 ENSG00000122591 ENSG00000122591 84668 24587 protein-coding gene gene with protein product down regulated by Ctnnb1, a 610531 NA 10910037, 16951682 Standard NM_032581 NM_032581 NA Approved DRCTNNB1A, HCC, HYCC1, hyccin uc003svm.4 Q9BYI3 OTTHUMG00000128435 ENST00000432176.2:c.*3001A>G chr7.hg19:g.22982207T>C NA A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6 hg19 CCDS5377.1 0.02 -0.280606 CTAxAGA COVERED NOVEL FAM126A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250230.1 4 3.309419 KEEP 0 0 0 11 324 TT 0.993072 0.734547 0 - 3 60 96 0 0 6.710327 29 60 817 57 ENST00000432176.2 0.09375 0.739671 NUPL2 11097 __UNKNOWN__ __UNKNOWN__ 7 23227711 23227711 __UNKNOWN__ 3'UTR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:23227711G>C ENST00000410002.3 + 0 553 NUPL2_ENST00000258742.5_Intron|NUPL2_ENST00000487595.1_Intron|AC005082.1_ENST00000366347.4_Intron O15504 NUPL2_HUMAN nucleoporin like 2 NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634) metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCCACTCTGGGTGTTCCTGGG 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U97198 CCDS5379.1 7p15 2003-08-07 ENSG00000136243 ENSG00000136243 11097 17010 protein-coding gene gene with protein product nucleoporin-like protein 1 NA NA 10358091, 9450185 Standard NM_007342 NM_007342 NA Approved NLP_1, CG1, hCG1, H_RG271G13.9 uc003svu.3 O15504 OTTHUMG00000096955 ENST00000410002.3:c.*37G>C chr7.hg19:g.23227711G>C NA A4D143|B4DP42|Q49AE7|Q9BS49 hg19 0.02 1.85435 TGGxTGT COVERED NOVEL NUPL2-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000327180.1 8 5.623158 KEEP 0 3 101 54 1865 GG 1 0.999919 0 + 15 60 536 0 0 42.83928 79 60 2746 227 ENST00000410002.3 0.159574 0.999919 SKAP2 8935 __UNKNOWN__ __UNKNOWN__ 7 26764991 26764991 __UNKNOWN__ Intron SNP T T A rs139615753 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:26764991T>A ENST00000345317.2 - 9 1110 SKAP2_ENST00000539623.1_Intron|SKAP2_ENST00000489977.1_Intron NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 NA NA B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) SH3/SH2 adaptor activity (GO:0005070) haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 acacacacactcacacacaca 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5400.1 7p15.2 2013-01-10 2006-09-28 2006-09-28 ENSG00000005020 ENSG00000005020 8935 Pleckstrin homology (PH) domain containing 15687 protein-coding gene gene with protein product 605215 src family associated phosphoprotein 2 SCAP2 NA 9837776, 9755858 Standard NM_003930 NA Approved RA70, SKAP-HOM, SKAP55R, SAPS uc003syc.3 O75563 OTTHUMG00000023495 ENST00000345317.2:c.796+55A>T chr7.hg19:g.26764991T>A NA A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8 hg19 CCDS5400.1 0.02 -0.31571 CACxCAC COVERED NOVEL SKAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214128.1 6 3.609925 KEEP 0 0 0 12 368 TT 0.993634 0.830395 0 - 10 60 316 1 0 27.741595 22 60 639 69 ENST00000345317.2 0.3125 0.835716 CREB5 9586 __UNKNOWN__ __UNKNOWN__ 7 28662390 28662390 __UNKNOWN__ Intron SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:28662390A>C ENST00000357727.2 + 5 854 CREB5_ENST00000396299.2_Intron|CREB5_ENST00000409603.1_Intron|CREB5_ENST00000396300.2_Intron NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 NA NA adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 gtaatcctagaactttgggag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L05515 CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1 7p15 2013-01-10 ENSG00000146592 ENSG00000146592 9586 basic leucine zipper proteins 16844 protein-coding gene gene with protein product cAMP response element binding protein CRE-Bpa NA NA 8378084, 8440710 Standard NM_004904 XM_005249906 NA Approved H_GS165L15.1, CRE-BPA uc003szr.3 Q02930 OTTHUMG00000097081 ENST00000357727.2:c.464+52235A>C chr7.hg19:g.28662390A>C NA A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9 hg19 CCDS5417.1 0.02 -0.403377 TAGxACT COVERED NOVEL CREB5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000214204.4 11 4.54762 KEEP 0 1 34 27 835 AA 0.999997 0.934489 0 + 4 60 128 0 0 8.892303 40 60 1193 97 ENST00000357727.2 0.090909 0.934492 WIPF3 644150 __UNKNOWN__ __UNKNOWN__ 7 29874379 29874379 __UNKNOWN__ Silent SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:29874379A>C ENST00000409290.1 + 1 39 c.39A>C c.(37-39)ccA>ccC p.P13P WIPF3_ENST00000409123.1_Silent_p.P13P|WIPF3_ENST00000242140.5_Silent_p.P13P NM_001080529.2 NP_001073998.2 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 13 NA cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) cytosol (GO:0005829) breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 ctctgcctccacctcccccgc 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AK094250 CCDS56472.1 7p15.1 2006-10-12 ENSG00000122574 ENSG00000122574 644150 22004 protein-coding gene gene with protein product 612432 NA Standard NM_001080529 NA Approved CR16, FLJ36931 uc022aaz.1 A6NGB9 OTTHUMG00000152761 ENST00000409290.1:c.39A>C chr7.hg19:g.29874379A>C NA B8ZZV2 hg19 CCDS56472.1 0.02 1.395923 TCCxCCT COVERED NOVEL WIPF3-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000327705.1 13 11.11205 KEEP 0 24 174 103 2503 AA 1 1 0 + 26 60 234 1 0 7.731247 114 60 2826 400 ENST00000409290.1 0.185714 1 ADCYAP1R1 117 __UNKNOWN__ __UNKNOWN__ 7 31117561 31117561 __UNKNOWN__ Intron SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:31117561G>T ENST00000396211.2 + 3 228 ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000304166.4_Intron|ADCYAP1R1_ENST00000409489.1_Intron P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I NA NA activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999) endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 tgtgtgtatgggtgtgtgtgG 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(44;225 1186 2158 11092) NA 0 109 69 83 NA NA 7 NA 31117561 2203 4300 6503 SO:0001627 intron_variant CCDS5433.1, CCDS56480.1, CCDS56481.1 7p14.3 2012-09-20 ENSG00000078549 ENSG00000078549 117 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 242 protein-coding gene gene with protein product PACAP receptor 1 102981 NA 7902709 Standard NM_001118 NM_001199635 NA Approved PAC1, PACAPR, PAC1R uc003tcg.3 P41586 OTTHUMG00000023884 ENST00000396211.2:c.158-45G>T chr7.hg19:g.31117561G>T NA A8K1Y1|B7ZLA7|B8ZZK3|Q17S10 hg19 CCDS56480.1 0.02 2.681464 ATGxGTG COVERED NOVEL ADCYAP1R1-003 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000328079.1 38 16.753367 KEEP 1 1 32 67 2313 GG 1 1 0 + 6 60 179 0 1 10.324366 119 60 4196 301 ENST00000396211.2 0.048 1 COA1 55744 __UNKNOWN__ __UNKNOWN__ 7 43688622 43688622 __UNKNOWN__ De_novo_Start_OutOfFrame SNP G G A rs2214995 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:43688622G>A ENST00000395879.1 - 0 1273 COA1_ENST00000395880.3_Intron|COA1_ENST00000310564.6_Intron|COA1_ENST00000223336.6_Intron Q9GZY4 COA1_HUMAN cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) NA NA mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617) cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739) NA AAAGCTGTACGTGACAGAGTG 0.408 NA NA A||| 4109 0.820487 0.9629 0.8487 5008 , , NA 21127 0.6726 NA 0.7475 False NA ,,, NA NA NA 2504 0.8354 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK001665 CCDS5471.1 7p13 2012-12-05 2012-10-15 2012-06-25 ENSG00000106603 ENSG00000106603 55744 Mitochondrial respiratory chain complex assembly factors 21868 protein-coding gene gene with protein product 614769 chromosome 7 open reading frame 44 C7orf44 NA 22356826 Standard NM_018224 NM_018224 NA Approved FLJ10803, MITRAC15 uc003tin.2 Q9GZY4 OTTHUMG00000128949 ENST00000395879.1:c.-409C>T chr7.hg19:g.43688622G>A NA A6NJU8|A8KAH8|Q9HAB7|Q9NVD2 hg19 CCDS5471.1 0.02 2.841825 TACxTGA COVERED NOVEL COA1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313664.1 7 15.281795 KEEP 0 1 26 60 2047 GG 1 1 0 - 7 60 206 0 0 12.193113 120 60 4017 264 ENST00000395879.1 0.055118 1 MYL7 58498 __UNKNOWN__ __UNKNOWN__ 7 44180619 44180619 __UNKNOWN__ Missense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:44180619G>A ENST00000223364.3 - 2 84 c.58C>T c.(58-60)Cgt>Tgt p.R20C MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_De_novo_Start_OutOfFrame NM_021223.2 NP_067046.1 Q01449 MLRA_HUMAN myosin, light chain 7, regulatory 20 NA A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459) calcium ion binding (GO:0005509) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 12 GAAGAACCACGTTGGGCCTGC 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 106 105 105 NA NA 7 NA 44180619 2203 4300 6503 SO:0001583 missense M94547 CCDS5478.1 7p21-p11.2 2013-01-10 2006-09-29 ENSG00000106631 ENSG00000106631 58498 Myosins / Light chain, EF-hand domain containing 21719 protein-coding gene gene with protein product 613993 myosin, light polypeptide 7, regulatory NA 8207020 Standard NM_021223 NM_021223 NA Approved MYLC2A, MYL2A uc003tkg.3 Q01449 OTTHUMG00000023125 ENST00000223364.3:c.58C>T chr7.hg19:g.44180619G>A ENSP00000223364:p.Arg20Cys NA B2R4L3 hg19 CCDS5478.1 0.02 4.227895 CACxTTG COVERED . . . . . . . . . . G 18.27 3.586165 0.66105 . . ENSG00000106631 ENST00000223364;ENST00000457314;ENST00000447951;ENST00000431007 T;T;T 0.80994 -1.19;-1.44;-0.92 5.69 4.79 0.61399 . 0.125811 0.49916 D 0.000131 D 0.88070 0.6338 M 0.85859 2.78 0.54753 D 0.999983 D 0.71674 0.998 P 0.57776 0.827 D 0.88915 0.3362 10 0.51188 T 0.08 . 13.1477 0.59472 0.0:0.0:0.71:0.29 . 20 Q01449 MLRA_HUMAN C 20;19;19;19 ENSP00000223364:R20C;ENSP00000389202:R19C;ENSP00000403988:R19C ENSP00000223364:R20C R - 1 0 MYL7 44147144 0.163000 0.22920 0.471000 0.27229 0.980000 0.70556 1.822000 0.39052 1.367000 0.46095 0.637000 0.83480 CGT NOVEL MYL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059446.4 5 40.327885 KEEP 0 0 0 134 4514 GG 1 1 0 - 8 60 241 0 0 13.409281 189 60 6338 482 ENST00000223364.3 0.040609 1 CAMK2B 816 __UNKNOWN__ __UNKNOWN__ 7 44284564 44284564 __UNKNOWN__ Intron SNP A A G rs2075069 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:44284564A>G ENST00000353625.4 - 7 424 CAMK2B_ENST00000395749.2_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000347193.4_Intron NM_172083.2 NP_742080.1 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta NA NA activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 GCCACTGGACATGGTGATTTT 0.622 NA NA .||| 1933 0.385982 0.2481 0.3718 5008 , , NA 18814 0.3938 NA 0.4702 False NA ,,, NA NA NA 2504 0.4877 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U50358 CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1 7p14.3-p14.1 2008-10-30 2008-10-30 ENSG00000058404 ENSG00000058404 816 1461 protein-coding gene gene with protein product CaM-kinase II beta chain, calcium/calmodulin-dependent protein kinase type II beta chain, CaM kinase II beta subunit, proline rich calmodulin-dependent protein kinase 607707 calcium/calmodulin-dependent protein kinase (CaM kinase) II beta CAMKB NA Standard NM_172084 NM_172079 NA Approved CAM2, CAMK2 uc003tkq.2 Q13554 OTTHUMG00000023491 ENST00000353625.4:c.415-1438T>C chr7.hg19:g.44284564A>G NA A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4 hg19 CCDS5488.1 0.02 3.76649 GACxTGG COVERED NOVEL CAMK2B-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251231.1 3 21.05773 KEEP 0 0 0 70 2082 AA 1 1 0 - 6 60 206 0 0 12.791836 130 60 3763 300 ENST00000353625.4 0.044118 1 TMED4 222068 __UNKNOWN__ __UNKNOWN__ 7 44620520 44620520 __UNKNOWN__ Intron SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:44620520A>C ENST00000289577.5 - 3 468 TMED4_ENST00000481238.1_3'UTR|TMED4_ENST00000457408.2_Intron Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) signal transducer activity (GO:0004871) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 gcactccagcatgggcaacaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035467 CCDS5493.1 7p13 2004-12-21 ENSG00000158604 ENSG00000158604 222068 22301 protein-coding gene gene with protein product 612038 NA 12761501 Standard NM_182547 NM_182547 NA Approved HNLF uc003tli.3 Q7Z7H5 OTTHUMG00000129210 ENST00000289577.5:c.387+527T>G chr7.hg19:g.44620520A>C NA A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6 hg19 0.02 6.006507 AGCxTGG COVERED NOVEL TMED4-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339388.1 42 8.669021 KEEP 1 7 229 109 3297 AA 1 1 0 - 7 60 241 0 0 14.757948 164 60 4948 429 ENST00000289577.5 0.040936 1 CCM2 83605 __UNKNOWN__ __UNKNOWN__ 7 45115773 45115773 __UNKNOWN__ 3'UTR SNP T T C rs7804 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:45115773T>C ENST00000258781.6 + 0 1601 CCM2_ENST00000544363.1_3'UTR|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_3'UTR|CCM2_ENST00000475551.1_3'UTR|CCM2_ENST00000541586.1_3'UTR|CCM2_ENST00000381112.3_3'UTR NM_031443.3 NP_113631.1 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 NA NA blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845) cytoplasm (GO:0005737)|protein complex (GO:0043234) NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 AGGCGCCCGGTGCAGATGGCC 0.677 NA NA C||| 1339 0.267372 0.2398 0.402 5008 , , NA 14755 0.1329 NA 0.3579 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC004903 CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1 7p13 2014-09-17 2004-02-13 2004-02-18 ENSG00000136280 ENSG00000136280 83605 21708 protein-coding gene gene with protein product malcavernin 607929 chromosome 7 open reading frame 22 C7orf22 NA 9811928 Standard NM_031443 NM_001029835 NA Approved MGC4607 uc003tms.3 Q9BSQ5 OTTHUMG00000129246 ENST00000258781.6:c.*117T>C chr7.hg19:g.45115773T>C NA A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4 hg19 CCDS5500.1 0.02 1.8658 CGGxGCA COVERED NOVEL CCM2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000251348.1 2 8.12245 KEEP 0 0 0 27 788 TT 0.999988 0.997151 0 + 4 60 131 0 0 8.33136 67 60 1905 154 ENST00000258781.6 0.056338 0.997163 NACAD 23148 __UNKNOWN__ __UNKNOWN__ 7 45120248 45120248 __UNKNOWN__ Silent SNP G G A rs1132130 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:45120248G>A ENST00000490531.2 - 7 4684 c.4665C>T c.(4663-4665)aaC>aaT p.N1555N NM_001146334.1 NP_001139806.1 O15069 NACAD_HUMAN NAC alpha domain containing 1555 NA protein transport (GO:0015031) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(2)|skin(2) 5 CCATGATGGCGTTGACGATGT 0.622 NA NA G||| 539 0.107628 0.0166 0.1657 5008 , , NA 20196 0.1081 NA 0.173 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 G 49,1335 0,49,643 191 195 194 4665 -4.9 1 7 dbSNP_86 194 595,2587 48,499,1044 no coding-synonymous NACAD NM_001146334.1 48,548,1687 AA,AG,GG 18.6989,3.5405,14.1042 1555/1563 45120248 644,3922 692 1591 2283 SO:0001819 synonymous_variant AB002361 CCDS47582.1 7p13 2010-07-14 ENSG00000136274 ENSG00000136274 23148 22196 protein-coding gene gene with protein product NA NA Standard NM_001146334 NM_001146334 NA Approved KIAA0363 uc003tmt.3 O15069 OTTHUMG00000159170 ENST00000490531.2:c.4665C>T chr7.hg19:g.45120248G>A NA hg19 CCDS47582.1 0.02 4.10212 GGCxTTG COVERED NOVEL NACAD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353652.2 4 30.695169 KEEP 0 0 0 102 3394 GG 1 1 0 - 10 60 290 0 0 17.635722 147 60 4806 351 ENST00000490531.2 0.063694 1 NACAD 23148 __UNKNOWN__ __UNKNOWN__ 7 45124286 45124286 __UNKNOWN__ Missense_Mutation SNP A A G rs3735494 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:45124286A>G ENST00000490531.2 - 2 1512 c.1493T>C c.(1492-1494)gTg>gCg p.V498A NM_001146334.1 NP_001139806.1 O15069 NACAD_HUMAN NAC alpha domain containing 498 NA V -> A (in dbSNP:rs3735494). protein transport (GO:0015031) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(2)|skin(2) 5 TCTGGTAGCCACCTCCACCTG 0.602 NA NA a||| 1665 0.332468 0.354 0.4164 5008 , , NA 20244 0.2857 NA 0.335 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 G ALA/VAL 535,849 104,327,261 41 44 43 1493 -5.1 0 7 dbSNP_107 43 1119,2063 190,739,662 yes missense NACAD NM_001146334.1 64 294,1066,923 GG,GA,AA 35.1666,38.6561,36.2243 possibly-damaging 498/1563 45124286 1654,2912 692 1591 2283 SO:0001583 missense AB002361 CCDS47582.1 7p13 2010-07-14 ENSG00000136274 ENSG00000136274 23148 22196 protein-coding gene gene with protein product NA NA Standard NM_001146334 NM_001146334 NA Approved KIAA0363 uc003tmt.3 O15069 OTTHUMG00000159170 ENST00000490531.2:c.1493T>C chr7.hg19:g.45124286A>G ENSP00000420477:p.Val498Ala NA hg19 CCDS47582.1 0.02 1.935804 GCCxCCT COVERED 724 0.3315018315018315 177 0.3597560975609756 144 0.39779005524861877 150 0.26223776223776224 253 0.3337730870712401 a 0.003 -2.391135 0.00200 0.386561 0.351666 ENSG00000136274 ENST00000490531 T 0.11385 2.78 2.54 -5.08 0.02929 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.31971 -0.9924 8 0.08381 T 0.77 6.4536 5.5272 0.16964 0.2234:0.0:0.2477:0.5289 rs3735494;rs3735494 498 O15069 NACAD_HUMAN A 498 ENSP00000420477:V498A ENSP00000420477:V498A V - 2 0 NACAD 45090811 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -2.043000 0.01413 -4.430000 0.00049 -5.108000 0.00001 GTG NOVEL NACAD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353652.2 0 11.424798 KEEP 0 0 0 38 1070 AA 1 0.992094 0 - 4 60 142 0 0 9.641624 59 60 1706 130 ENST00000490531.2 0.063492 0.992094 ABCA13 154664 __UNKNOWN__ __UNKNOWN__ 7 48313510 48313510 __UNKNOWN__ Missense_Mutation SNP A A G rs17547830 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:48313510A>G ENST00000435803.1 + 17 4271 c.4247A>G c.(4246-4248)cAt>cGt p.H1416R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1416 NA H -> R (in Ref. 1; AAP13576). {ECO:0000305}. transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCACAAGGTCATCTTCAAAAT 0.303 NA NA A||| 938 0.1873 0.1566 0.2032 5008 , , NA 17417 0.0129 NA 0.3917 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 A ARG/HIS 671,2947 69,533,1207 39 36 37 4247 -7.5 0 7 dbSNP_123 37 2865,5253 499,1867,1693 yes missense ABCA13 NM_152701.3 29 568,2400,2900 GG,GA,AA 35.2919,18.5462,30.1295 benign 1416/5059 48313510 3536,8200 1809 4059 5868 SO:0001583 missense AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664 ATP binding cassette transporters / subfamily A 14638 protein-coding gene gene with protein product 607807 NA 12697998 Standard NM_152701 NM_152701 NA Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.4247A>G chr7.hg19:g.48313510A>G ENSP00000411096:p.His1416Arg NA K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 hg19 CCDS47584.1 0.02 1.692673 GTCxTCT COVERED 477 0.2184065934065934 85 0.17276422764227642 80 0.22099447513812154 5 0.008741258741258742 307 0.4050131926121372 A 3.082 -0.188874 0.06299 0.185462 0.352919 ENSG00000179869 ENST00000435803 D 0.85088 -1.94 5.04 -7.5 0.01351 . 0.720289 0.12327 N 0.478767 T 0.00012 0.0000 L 0.28115 0.83 0.80722 P 0.0 B 0.06786 0.001 B 0.08055 0.003 T 0.19192 -1.0313 8 . . . . 2.3723 0.04333 0.2845:0.3312:0.2764:0.1079 rs17547830;rs52821200;rs58931054;rs17547830 1416 Q86UQ4 ABCAD_HUMAN R 1416 ENSP00000411096:H1416R . H + 2 0 ABCA13 48284056 0.000000 0.05858 0.000000 0.03702 0.035000 0.12851 -0.100000 0.10990 -1.571000 0.01663 -0.464000 0.05259 CAT NOVEL ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341964.2 5 6.617649 KEEP 0 0 0 22 655 AA 0.999879 0.995566 0 + 5 60 164 0 0 11.033534 63 60 1877 125 ENST00000435803.1 0.073529 0.995687 IKZF1 10320 __UNKNOWN__ __UNKNOWN__ 7 50469551 50469551 __UNKNOWN__ 3'UTR SNP C C T rs11552047|rs386713128 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:50469551C>T ENST00000331340.3 + 0 2941 IKZF1_ENST00000349824.4_3'UTR|IKZF1_ENST00000343574.5_3'UTR|IKZF1_ENST00000359197.5_3'UTR|IKZF1_ENST00000357364.4_3'UTR|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_3'UTR|IKZF1_ENST00000346667.4_3'UTR NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) NA NA B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TGTTTGAAACCAAGCTTTCAA 0.413 NA NA D,T BCL6 ALL, DLBCL T||| 1095 0.21865 0.1664 0.2334 5008 , , NA 21814 0.1071 NA 0.3161 False NA ,,, NA NA NA 2504 0.2935 NA NA NA Rec,Dom yes 7 7p12.2 10320 IKAROS family zinc finger 1 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U40462 CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1 7p12.2 2014-06-12 2006-08-25 2006-08-25 ENSG00000185811 ENSG00000185811 10320 Zinc fingers, C2H2-type, IKAROS zinc fingers 13176 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 92 603023 zinc finger protein, subfamily 1A, 1 (Ikaros) ZNFN1A1 NA 1439790, 7935426 Standard NM_006060 NM_006060 NA Approved hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92 uc003tow.4 Q13422 OTTHUMG00000155907 ENST00000331340.3:c.*1226C>T chr7.hg19:g.50469551C>T NA A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3 hg19 0.02 -0.192993 AACxAAG COVERED NOVEL IKZF1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000342242.1 3 3.009639 KEEP 0 0 0 10 341 CC 0.992708 0.454419 0 + 3 60 89 0 0 6.59263 18 60 619 44 ENST00000331340.3 0.142857 0.457757 VSTM2A 222008 __UNKNOWN__ __UNKNOWN__ 7 54638515 54638515 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:54638515G>A ENST00000407838.3 + 0 2854 GS1-18A18.1_ENST00000456049.1_RNA NM_182546.2 NP_872352.2 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A NA NA extracellular region (GO:0005576) endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) GCTATGTGGGGCCATCAGCTC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028404 CCDS5512.2, CCDS75604.1 7p11.2 2013-01-11 2007-08-10 2007-08-10 ENSG00000170419 ENSG00000170419 222008 Immunoglobulin superfamily / V-set domain containing 28499 protein-coding gene gene with protein product NA V-set and transmembrane domain containing 2 VSTM2 NA 12477932 Standard NM_182546 XM_006715663 NA Approved MGC33530 uc010kzf.3 Q8TAG5 OTTHUMG00000129271 ENST00000407838.3:c.*1737G>A chr7.hg19:g.54638515G>A NA A4D2E9|B5MC94 hg19 CCDS5512.2 0.02 -0.31561 GGGxCCA COVERED NOVEL VSTM2A-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318694.1 1 3.310315 KEEP 0 0 0 11 378 GG 0.993072 0.812795 0 + 3 60 97 0 0 6.650004 33 60 1110 65 ENST00000407838.3 0.083333 0.818465 EGFR 1956 __UNKNOWN__ __UNKNOWN__ 7 55270648 55270648 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:55270648A>G ENST00000455089.1 + 0 3723 EGFR_ENST00000454757.2_Intron|EGFR_ENST00000275493.2_Intron|EGFR_ENST00000442591.1_Intron P00533 EGFR_HUMAN epidermal growth factor receptor NA NA activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294) gtgtgtgtgtatgtgtgtgtt 0.353 NA 8 A, O, Mis glioma, NSCLC NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Dom yes Familial lung cancer 7 7p12.3-p12.1 1956 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) E, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1 7p12 2014-09-17 2010-06-25 ENSG00000146648 ENSG00000146648 1956 3236 protein-coding gene gene with protein product erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) 131550 epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) ERBB NA 1505215 Standard NM_005228 NM_201282 NA Approved ERBB1 uc003tqk.3 P00533 OTTHUMG00000023661 ENST00000455089.1:c.*190A>G chr7.hg19:g.55270648A>G NA O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5 hg19 0.02 1.830635 TGTxTGT COVERED NOVEL EGFR-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000343056.1 21 6.146209 KEEP 0 1 36 33 920 AA 0.999998 0.998463 0 + 7 60 237 0 0 17.162212 63 60 1795 141 ENST00000455089.1 0.1 0.998465 SEPT14 346288 __UNKNOWN__ __UNKNOWN__ 7 55862383 55862383 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:55862383A>G ENST00000388975.3 - 0 2638 NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 NA NA cell cycle (GO:0007049)|cell division (GO:0051301) septin complex (GO:0031105) GTP binding (GO:0005525) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) Gcgctctgtcacccaggctgg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126048 CCDS5519.2 7p11.2 2013-01-21 ENSG00000154997 ENSG00000154997 346288 Septins 33280 protein-coding gene gene with protein product 612140 NA Standard NM_207366 NM_207366 NA Approved FLJ44060 uc003tqz.2 Q6ZU15 OTTHUMG00000129341 ENST00000388975.3:c.*1223T>C chr7.hg19:g.55862383A>G NA A6NCC2|B4DXD6 hg19 CCDS5519.2 0.02 1.555402 GTCxCCC COVERED NOVEL SEPT14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251489.2 24 8.72564 KEEP 0 0 0 29 891 AA 0.999997 0.999927 0 - 4 60 131 2 0 7.968753 83 60 2479 178 ENST00000388975.3 0.045977 0.99993 MRPS17 51373 __UNKNOWN__ __UNKNOWN__ 7 56008788 56008788 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:56008788T>C ENST00000426595.1 + 7 1261 ZNF713_ENST00000429591.2_3'UTR Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763) rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) gctgggattataggcgtgagc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051352 CCDS5520.1 7p11-q11.21 2012-09-13 ENSG00000239789 ENSG00000239789 51373 Mitochondrial ribosomal proteins / small subunits 14047 protein-coding gene gene with protein product 28S ribosomal protein S17, mitochondrial 611980 NA 11279123 Standard NM_015969 NM_015969 NA Approved HSPC011, RPMS17, MRP-S17 uc003trd.3 Q9Y2R5 OTTHUMG00000023153 ENST00000426595.1:c.269-12084T>C chr7.hg19:g.56008788T>C NA Q86X15 hg19 0.02 1.9445 TTAxAGG COVERED NOVEL MRPS17-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000363286.1 10 2.841523 KEEP 0 1 36 22 644 TT 0.999892 0.991987 0 + 5 60 170 0 0 11.953546 54 60 1596 126 ENST00000426595.1 0.084746 0.992094 GBAS 2631 __UNKNOWN__ __UNKNOWN__ 7 56067124 56067124 __UNKNOWN__ 3'UTR SNP A A C rs2289062 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:56067124A>C ENST00000446778.1 + 0 1132 GBAS_ENST00000322090.3_3'UTR NM_001202469.1 NP_001189398.1 O75323 NIPS2_HUMAN glioblastoma amplified sequence NA NA ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACTAAAAAAAACCAAAAAACA 0.313 NA NA A||| 881 0.175919 0.0492 0.1671 5008 , , NA 17717 0.3502 NA 0.2058 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF029786 CCDS5521.1, CCDS56488.1 7p12 2014-03-11 ENSG00000146729 ENSG00000146729 2631 4179 protein-coding gene gene with protein product 603004 NA 9615231, 9661659, 20888800 Standard NM_001483 NM_001483 NA Approved NIPSNAP2 uc003tre.2 O75323 OTTHUMG00000022932 ENST00000446778.1:c.*359A>C chr7.hg19:g.56067124A>C NA C9IYJ3|O43801|Q53X96 hg19 CCDS56488.1 0.02 -0.254284 AAAxCCA COVERED NOVEL GBAS-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000343274.1 2 2.707866 KEEP 0 0 0 9 272 AA 0.99254 0.663536 0 + 3 60 101 0 0 7.344657 26 70 742 43 ENST00000446778.1 0.103448 0.668523 ZNF273 10793 __UNKNOWN__ __UNKNOWN__ 7 64388573 64388573 __UNKNOWN__ Silent SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:64388573T>C ENST00000476120.1 + 4 938 c.867T>C c.(865-867)ccT>ccC p.P289P ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Silent_p.P224P NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 289 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) AAGAGAAACCTTACAAATGTG 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932) NA 0 35 41 39 NA NA 7 NA 64388573 2197 4298 6495 SO:0001819 synonymous_variant X78932 CCDS5528.2 7q11.21 2013-01-08 ENSG00000198039 10793 Zinc fingers, C2H2-type, - 13067 protein-coding gene gene with protein product 604756 NA 7865130 Standard NR_003099 NA Approved HZF9 uc003tto.3 Q14593 ENST00000476120.1:c.867T>C chr7.hg19:g.64388573T>C NA B3KQZ5|Q6P3V4 hg19 CCDS5528.2 0.02 3.891692 ACCxTAC COVERED NOVEL ZNF273-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313502.1 14 8.760076 KEEP 0 1 34 41 1281 TT 1 0.999968 0 + 6 60 194 0 0 12.49582 91 60 2802 184 ENST00000476120.1 0.061856 0.999968 ZNF92 168374 __UNKNOWN__ __UNKNOWN__ 7 64864456 64864456 __UNKNOWN__ Missense_Mutation SNP A A G rs148018551 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:64864456A>G ENST00000431504.1 + 2 1365 c.1201A>G c.(1201-1203)Aga>Gga p.R401G ZNF92_ENST00000357512.2_Missense_Mutation_p.R445G|ZNF92_ENST00000450302.2_Missense_Mutation_p.R408G|ZNF92_ENST00000328747.7_Missense_Mutation_p.R477G Q03936 ZNF92_HUMAN zinc finger protein 92 477 NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) AATTCATACTAGAGAAAAACC 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 29 34 32 NA NA 7 NA 64864456 2193 4295 6488 SO:0001583 missense M61872 CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1 7q11.21 2013-01-08 2006-05-12 ENSG00000146757 ENSG00000146757 168374 Zinc fingers, C2H2-type, - 13168 protein-coding gene gene with protein product 603974 zinc finger protein 92 (HTF12) NA 8467795 Standard NM_152626 NM_001287533 NA Approved HPF12, TF12 uc003ttz.3 Q03936 OTTHUMG00000156557 ENST00000431504.1:c.1201A>G chr7.hg19:g.64864456A>G ENSP00000400495:p.Arg401Gly NA A6NNF9|Q8N492|Q8NB35 hg19 0.02 1.675112 ACTxGAG COVERED . . . . . . . . . . A 0.004 -2.339904 0.00224 . . ENSG00000146757 ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302 T;T;T;T 0.11495 2.77;2.77;2.77;2.77 0.418 -0.774 0.10991 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.01800 0.0057 N 0.00317 -1.655 0.23138 N 0.998234 B;B 0.09022 0.002;0.0 B;B 0.01281 0.0;0.0 T 0.41945 -0.9480 9 0.02654 T 1 . 3.902 0.09166 0.6995:0.0:0.3005:0.0 . 445;477 Q03936-3;Q03936 .;ZNF92_HUMAN G 477;401;445;408 ENSP00000332595:R477G;ENSP00000400495:R401G;ENSP00000350113:R445G;ENSP00000396126:R408G ENSP00000332595:R477G R + 1 2 ZNF92 64501891 0.450000 0.25697 0.025000 0.17156 0.025000 0.11179 1.307000 0.33516 -0.466000 0.06943 -0.467000 0.05162 AGA NOVEL ZNF92-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000345490.1 16 4.479661 KEEP 0 2 66 38 1146 AA 1 0.996724 0 + 4 60 130 1 0 8.36054 62 60 1877 150 ENST00000431504.1 0.060606 0.996724 TMEM248 55069 __UNKNOWN__ __UNKNOWN__ 7 66406823 66406823 __UNKNOWN__ Intron SNP C C G rs13222461 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:66406823C>G ENST00000341567.4 + 2 237 NM_017994.4 NP_060464.1 Q9NWD8 TM248_HUMAN transmembrane protein 248 NA NA integral component of membrane (GO:0016021) NA GCTTCTGATTCATTTCTTTCA 0.493 NA NA C||| 100 0.0199681 8e-04 0.0519 5008 , , NA 18780 0 NA 0.0517 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C 57,4349 55.5+/-91.7 0,57,2146 83 85 85 -9.2 0 7 dbSNP_121 85 493,8107 142.8+/-198.9 22,449,3829 no intron C7orf42 NM_017994.4 22,506,5975 GG,GC,CC 5.7326,1.2937,4.2288 66406823 550,12456 2203 4300 6503 SO:0001627 intron_variant CCDS5536.1 7q11.21 2012-05-30 2012-05-30 2012-05-30 ENSG00000106609 ENSG00000106609 55069 25476 protein-coding gene gene with protein product NA chromosome 7 open reading frame 42 C7orf42 NA 12477932 Standard NM_017994 XM_005250482 NA Approved FLJ10099, FLJ13090 uc003tvk.3 Q9NWD8 OTTHUMG00000129553 ENST00000341567.4:c.-18-12C>G chr7.hg19:g.66406823C>G NA Q53H07|Q96FR2 hg19 CCDS5536.1 0.02 3.724498 ATTxATT COVERED NOVEL TMEM248-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251745.2 7 22.872529 KEEP 0 0 0 76 2625 CC 1 0.999999 0 + 5 60 172 0 0 10.602146 113 60 3839 281 ENST00000341567.4 0.042373 0.999999 TYW1 55253 __UNKNOWN__ __UNKNOWN__ 7 66648091 66648091 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:66648091C>G ENST00000359626.5 + 14 1862 NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) NA NA tRNA processing (GO:0008033) cytoplasm (GO:0005737)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) TAACAACGAACTTGGCTTTTC 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 82 64 70 NA NA 7 NA 66648091 2203 4300 6503 SO:0001627 intron_variant AK001762 CCDS5538.1 7q11.21 2007-11-29 2007-11-29 2007-11-29 ENSG00000198874 ENSG00000198874 55253 25598 protein-coding gene gene with protein product tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae) 611243 radical S-adenosyl methionine and flavodoxin domains 1 RSAFD1 NA 16162496, 17150819 Standard NM_018264 NM_018264 NA Approved FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A uc003tvn.4 Q9NV66 OTTHUMG00000129723 ENST00000359626.5:c.1699-22C>G chr7.hg19:g.66648091C>G NA Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4 hg19 CCDS5538.1 0.02 1.745826 GAAxTTG COVERED NOVEL TYW1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251932.2 5 4.052542 KEEP 3 4 130 59 2000 CC 1 0.99993 0 + 6 27 218 0 0 14.918517 90 60 3097 217 ENST00000359626.5 0.0625 0.99993 MLXIPL 51085 __UNKNOWN__ __UNKNOWN__ 7 73038544 73038544 __UNKNOWN__ Missense_Mutation SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:73038544C>G ENST00000313375.3 - 1 326 c.279G>C c.(277-279)ttG>ttC p.L93F MLXIPL_ENST00000434326.1_Missense_Mutation_p.L93F|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L93F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L93F|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L93F|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L93F NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 MLXPL_HUMAN MLX interacting protein-like 93 NA anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) AGGCCAGGCTCAAGCACTCGA 0.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 13 11 11 NA NA 7 NA 73038544 2188 4270 6458 SO:0001583 missense AK055029 CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1 7q11.23 2013-05-21 2005-10-31 2005-10-31 ENSG00000009950 ENSG00000009950 51085 12744 protein-coding gene gene with protein product carbohydrate response element binding protein 605678 Williams Beuren syndrome chromosome region 14 WBSCR14 NA 9860302 Standard NM_032951 XM_005250399 NA Approved WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14 uc003tyn.1 Q9NP71 OTTHUMG00000129995 ENST00000313375.3:c.279G>C chr7.hg19:g.73038544C>G ENSP00000320886:p.Leu93Phe NA C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3 hg19 CCDS5553.1 0.02 2.079202 GCTxAAG COVERED . . . . . . . . . . C 18.77 3.694148 0.68386 . . ENSG00000009950 ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275 T;T;T;T;T;T;T 0.25912 1.77;1.77;1.77;1.77;1.77;1.77;1.77 4.33 4.33 0.51752 . 0.088804 0.85682 D 0.000000 T 0.24431 0.0592 L 0.50333 1.59 0.42146 D 0.991534 P;P;P;P;P 0.41131 0.739;0.622;0.739;0.739;0.739 B;B;B;B;B 0.36289 0.221;0.11;0.221;0.221;0.221 T 0.14282 -1.0478 10 0.72032 D 0.01 -6.9604 14.3396 0.66617 0.0:1.0:0.0:0.0 . 93;93;93;93;93 Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4 .;MLXPL_HUMAN;.;.;. F 93 ENSP00000412330:L93F;ENSP00000406296:L93F;ENSP00000320886:L93F;ENSP00000346629:L93F;ENSP00000378616:L93F;ENSP00000392636:L93F;ENSP00000395172:L93F ENSP00000320886:L93F L - 3 2 MLXIPL 72676480 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 7.572000 0.82409 2.218000 0.71995 0.561000 0.74099 TTG NOVEL MLXIPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252262.1 0 2.276466 KEEP 0 2 67 31 1031 CC 0.999998 0.984159 0 - 5 60 169 0 0 11.891285 53 60 1757 114 ENST00000313375.3 0.086207 0.984161 TRIM73 375593 __UNKNOWN__ __UNKNOWN__ 7 75028240 75028240 __UNKNOWN__ Missense_Mutation SNP T T C rs73702636 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:75028240T>C ENST00000437796.1 + 1 42 c.23T>C c.(22-24)cTg>cCg p.L8P TRIM73_ENST00000323819.3_Missense_Mutation_p.L8P|TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000447409.2_Missense_Mutation_p.L8P|TRIM73_ENST00000430211.1_Missense_Mutation_p.L8P Q86UV7 TRI73_HUMAN tripartite motif containing 73 8 NA intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|lung(1)|pancreas(1) 4 GTGAGCCTGCTGGAGCTGGAG 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 134 135 135 NA NA 7 NA 75028240 2203 4300 6503 SO:0001583 missense AF498998 CCDS34665.1 7q11.23 2013-01-09 2011-01-25 2006-03-31 ENSG00000178809 375593 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 18162 protein-coding gene gene with protein product 612549 tripartite motif-containing 50B, tripartite motif-containing 73 TRIM50B NA Standard NM_198924 NA Approved uc003udc.1 Q86UV7 ENST00000437796.1:c.23T>C chr7.hg19:g.75028240T>C ENSP00000417040:p.Leu8Pro NA Q8N0S3 hg19 CCDS34665.1 0.02 8.392773 TGCxGGA COVERED . . . . . . . . . . T 0.003 -2.453889 0.00175 . . ENSG00000178809 ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796 D;D;D;D 0.84370 -1.84;-1.84;-1.84;-1.84 2.31 2.31 0.28768 Zinc finger, RING/FYVE/PHD-type (2); 0.716055 0.13135 N 0.411154 T 0.65037 0.2653 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.56282 -0.8005 9 0.20046 T 0.44 . 3.1123 0.06363 0.2601:0.5871:0.0:0.1528 . 8;8 Q86UV6;Q86UV7 TRI74_HUMAN;TRI73_HUMAN P 8 ENSP00000318615:L8P;ENSP00000410121:L8P;ENSP00000407135:L8P;ENSP00000417040:L8P ENSP00000318615:L8P L + 2 0 TRIM73 74866176 0.000000 0.05858 0.274000 0.24659 0.362000 0.29581 -0.984000 0.03755 0.549000 0.28973 -0.511000 0.04467 CTG NOVEL TRIM73-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000342950.1 10 9.9431 KEEP 6 9 312 142 4312 TT 1 1 0 + 7 47 250 0 0 15.093923 198 50 6006 549 ENST00000437796.1 0.034146 1 TRIM73 375593 __UNKNOWN__ __UNKNOWN__ 7 75028241 75028241 __UNKNOWN__ Silent SNP G G A rs73702637 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:75028241G>A ENST00000437796.1 + 1 43 c.24G>A c.(22-24)ctG>ctA p.L8L TRIM73_ENST00000323819.3_Silent_p.L8L|TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000447409.2_Silent_p.L8L|TRIM73_ENST00000430211.1_Silent_p.L8L Q86UV7 TRI73_HUMAN tripartite motif containing 73 8 NA intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|lung(1)|pancreas(1) 4 TGAGCCTGCTGGAGCTGGAGG 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 137 139 138 NA NA 7 NA 75028241 2203 4300 6503 SO:0001819 synonymous_variant AF498998 CCDS34665.1 7q11.23 2013-01-09 2011-01-25 2006-03-31 ENSG00000178809 375593 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 18162 protein-coding gene gene with protein product 612549 tripartite motif-containing 50B, tripartite motif-containing 73 TRIM50B NA Standard NM_198924 NA Approved uc003udc.1 Q86UV7 ENST00000437796.1:c.24G>A chr7.hg19:g.75028241G>A NA Q8N0S3 hg19 CCDS34665.1 0.02 6.159889 GCTxGAG COVERED NOVEL TRIM73-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000342950.1 10 13.352309 KEEP 6 9 278 142 4995 GG 1 1 0 + 8 47 252 0 0 14.258905 203 50 7118 555 ENST00000437796.1 0.037915 1 HIP1 3092 __UNKNOWN__ __UNKNOWN__ 7 75164946 75164946 __UNKNOWN__ 3'UTR SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:75164946T>G ENST00000434438.2 - 0 5528 HIP1_ENST00000336926.6_3'UTR NM_001243198.1 NP_001230127.1 O00291 HIP1_HUMAN huntingtin interacting protein 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 ctcccaaagttctgggattac 0.443 NA NA T PDGFRB CMML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 7 7q11.23 3092 huntingtin interacting protein 1 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF052288 CCDS34669.1, CCDS59060.1 7q11.23 2008-07-18 ENSG00000127946 ENSG00000127946 3092 4913 protein-coding gene gene with protein product 601767 NA 9140394, 9147654 Standard NM_005338 NM_005338 NA Approved ILWEQ uc003uds.2 O00291 OTTHUMG00000156050 ENST00000434438.2:c.*2547A>C chr7.hg19:g.75164946T>G NA B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4 hg19 CCDS59060.1 0.02 3.957202 AGTxCTG COVERED NOVEL HIP1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342864.2 45 2.234222 KEEP 2 7 251 95 2755 TT 1 1 0 - 9 60 302 1 0 20.210902 124 60 3543 335 ENST00000434438.2 0.067669 1 HIP1 3092 __UNKNOWN__ __UNKNOWN__ 7 75164964 75164964 __UNKNOWN__ 3'UTR SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:75164964C>A ENST00000434438.2 - 0 5510 HIP1_ENST00000336926.6_3'UTR NM_001243198.1 NP_001230127.1 O00291 HIP1_HUMAN huntingtin interacting protein 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 tacaggcatgcgccactgtgc 0.468 NA NA T PDGFRB CMML NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 7 7q11.23 3092 huntingtin interacting protein 1 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF052288 CCDS34669.1, CCDS59060.1 7q11.23 2008-07-18 ENSG00000127946 ENSG00000127946 3092 4913 protein-coding gene gene with protein product 601767 NA 9140394, 9147654 Standard NM_005338 NM_005338 NA Approved ILWEQ uc003uds.2 O00291 OTTHUMG00000156050 ENST00000434438.2:c.*2529G>T chr7.hg19:g.75164964C>A NA B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4 hg19 CCDS59060.1 0.02 5.051078 ATGxGCC COVERED NOVEL HIP1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342864.2 74 26.249568 KEEP 2 5 124 131 4455 CC 1 1 0 - 7 60 218 0 0 12.612905 156 60 5306 440 ENST00000434438.2 0.042945 1 AC005008.2 0 __UNKNOWN__ __UNKNOWN__ 7 80805263 80805263 __UNKNOWN__ Missense_Mutation SNP C C T rs11972689 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:80805263C>T ENST00000431501.1 + 2 138 c.133C>T c.(133-135)Cct>Tct p.P45S NA NA NA CATAGCAAACCCTGCCCACTT 0.428 NA NA C||| 1390 0.277556 0.4387 0.232 5008 , , NA 20824 0.0863 NA 0.3091 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA NA ENST00000431501.1:c.133C>T chr7.hg19:g.80805263C>T ENSP00000400587:p.Pro45Ser NA hg19 0.02 1.356175 AACxCTG COVERED 559 0.25595238095238093 206 0.4186991869918699 101 0.27900552486187846 31 0.05419580419580419 221 0.29155672823219 C 10.86 1.470080 0.26423 . . ENSG00000237896 ENST00000431501 . . . 4.3 0.381 0.16228 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.42965 -0.9420 4 0.87932 D 0 . 3.3427 0.07124 0.181:0.5218:0.0:0.2972 rs11972689;rs11972689 . . . S 45 . ENSP00000400587:P45S P + 1 0 AC005008.2 80643199 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.748000 0.04818 0.061000 0.16311 -0.219000 0.12488 CCT NOVEL AC005008.2-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345367.1 6 15.349468 KEEP 0 0 0 51 1784 CC 1 0.999919 0 + 6 60 184 0 0 11.554518 89 60 3077 214 ENST00000431501.1 0.063158 0.999919 PCLO 27445 __UNKNOWN__ __UNKNOWN__ 7 82450364 82450364 __UNKNOWN__ Intron SNP A A G rs2522832 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:82450364A>G ENST00000333891.9 - 20 15129 PCLO_ENST00000423517.2_3'UTR NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein NA NA breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAAAAATTAAAGATGAGAGCT 0.408 NA NA A||| 2541 0.507388 0.2163 0.5476 5008 , , NA 19026 0.8125 NA 0.4692 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011131 CCDS47630.1, CCDS47631.1 7q11.23-q21.3 2013-01-07 2013-01-07 ENSG00000186472 ENSG00000186472 27445 13406 protein-coding gene gene with protein product aczonin 604918 piccolo (presynaptic cytomatrix protein) NA 8900486, 9628581 Standard NM_014510 NM_014510 NA Approved KIAA0559, DKFZp779G1236, ACZ uc003uhx.2 Q9Y6V0 OTTHUMG00000154853 ENST00000333891.9:c.14791+1446T>C chr7.hg19:g.82450364A>G NA hg19 CCDS47630.1 0.02 -0.350848 TAAxGAT COVERED NOVEL PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337368.5 2 4.749704 KEEP 0 1 17 22 700 AA 0.999892 0.877613 0 - 3 60 107 0 0 7.505361 37 60 1154 87 ENST00000333891.9 0.075 0.877708 ZNF804B 219578 __UNKNOWN__ __UNKNOWN__ 7 88423414 88423414 __UNKNOWN__ Intron SNP C C G rs3843538 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:88423414C>G ENST00000333190.4 + 1 717 NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B NA NA metal ion binding (GO:0046872) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTTTAAAAGACACCAGTAACT 0.308 NA NA HNSCC(36;0.09) G||| 764 0.152556 0.2209 0.1556 5008 , , NA 18054 0.1131 NA 0.175 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056672 CCDS5613.1 7q21.13 2012-10-05 2006-12-18 ENSG00000182348 ENSG00000182348 219578 21958 protein-coding gene gene with protein product NA zinc finger 804B NA Standard NM_181646 NM_181646 NA Approved FLJ32110 uc011khi.2 A4D1E1 OTTHUMG00000131037 ENST00000333190.4:c.108+34016C>G chr7.hg19:g.88423414C>G NA B2RTV2|Q7Z714|Q96MN7 hg19 CCDS5613.1 0.02 -0.429861 AGAxACC COVERED NOVEL ZNF804B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253683.2 5 13.544295 KEEP 0 0 0 45 1594 CC 1 0.954491 0 + 3 60 108 0 0 7.331512 46 60 1576 143 ENST00000333190.4 0.061224 0.954491 LRRD1 401387 __UNKNOWN__ __UNKNOWN__ 7 91771881 91771881 __UNKNOWN__ 3'UTR SNP C C G rs186013801 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:91771881C>G ENST00000343318.5 - 0 1148 LRRD1_ENST00000422722.1_Intron|CTB-161K23.1_ENST00000453068.1_RNA A4D1F6 LRRD1_HUMAN leucine-rich repeats and death domain containing 1 NA NA signal transduction (GO:0007165) breast(4)|endometrium(1) 5 gtgggttcttcgtctcactga 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026112 CCDS55124.1 7q21.2 2011-05-23 ENSG00000240720 ENSG00000240720 401387 34300 protein-coding gene gene with protein product NA NA Standard NM_001045475 NM_001161528 NA Approved IMAGE:4798971 uc011khp.1 A4D1F6 OTTHUMG00000155861 ENST00000343318.5:c.*243G>C chr7.hg19:g.91771881C>G NA B7ZMM9|Q49AT9 hg19 0.02 4.079493 CTTxGTC COVERED NOVEL LRRD1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000342026.2 13 7.067885 KEEP 0 2 70 48 1604 CC 1 0.999999 0 - 8 60 271 0 0 18.19103 111 60 3636 246 ENST00000343318.5 0.067227 0.999999 KRIT1 889 __UNKNOWN__ __UNKNOWN__ 7 91829936 91829936 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:91829936A>G ENST00000340022.2 - 0 3343 AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394507.1_3'UTR|KRIT1_ENST00000394503.2_3'UTR|KRIT1_ENST00000412043.2_3'UTR|KRIT1_ENST00000394505.2_3'UTR NM_004912.3|NM_194455.1 NP_004903.2|NP_919437.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing NA NA angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886) microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) aaagtgctggaattacagggg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ294850 CCDS5624.1, CCDS34679.1 7q21.2 2014-09-17 2005-03-15 2005-03-17 ENSG00000001631 ENSG00000001631 889 Ankyrin repeat domain containing 1573 protein-coding gene gene with protein product 604214 cerebral cavernous malformations 1 CCM1 NA 7604043, 11342228 Standard NM_194455 NA Approved CAM uc003ulu.1 O00522 OTTHUMG00000131187 ENST00000340022.2:c.*114T>C chr7.hg19:g.91829936A>G NA A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5 hg19 CCDS5624.1 0.02 3.827526 TGGxATT COVERED NOVEL KRIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253910.1 19 5.118778 KEEP 0 3 103 53 1655 AA 1 1 0 - 6 60 195 0 0 12.14328 109 60 3382 266 ENST00000340022.2 0.052174 1 SMURF1 57154 __UNKNOWN__ __UNKNOWN__ 7 98659761 98659761 __UNKNOWN__ Intron SNP A A C rs192717727 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:98659761A>C ENST00000361368.2 - 2 294 SMURF1_ENST00000480055.1_Intron|SMURF1_ENST00000361125.1_Intron NM_001199847.1|NM_181349.2 NP_001186776.1|NP_851994.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 NA NA BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842) endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) tctcttgcccaggctggagtg 0.408 NA NA A||| 41 0.0081869 0.0015 0.0144 5008 , , NA 15334 0 NA 0.0239 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046845 CCDS34689.1, CCDS34690.1 7q21.1-q31.1 2004-07-29 ENSG00000198742 ENSG00000198742 57154 16807 protein-coding gene gene with protein product 605568 NA 10458166 Standard NM_020429 NM_020429 NA Approved KIAA1625 uc003upu.2 Q9HCE7 OTTHUMG00000150272 ENST00000361368.2:c.56-301T>G chr7.hg19:g.98659761A>C NA A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8 hg19 CCDS34689.1 0.02 -0.13158 CCCxGGC COVERED NOVEL SMURF1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059366.2 6 2.706717 KEEP 0 0 0 9 270 AA 0.99254 0.227464 0 - 7 60 237 0 0 22.538643 8 60 251 32 ENST00000361368.2 0.466667 0.229173 PILRA 29992 __UNKNOWN__ __UNKNOWN__ 7 99971658 99971658 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:99971658C>T ENST00000198536.2 + 2 276 PILRA_ENST00000453419.1_Intron|PILRA_ENST00000350573.2_Intron|PILRA_ENST00000394000.2_Intron NM_013439.2 NP_038467.2 Q9UKJ1 PILRA_HUMAN paired immunoglobin-like type 2 receptor alpha NA NA signal transduction (GO:0007165)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 15 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACTCCCTCCCTCCTCTAGGT 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 61 65 64 NA NA 7 NA 99971658 2184 4299 6483 SO:0001627 intron_variant AF161080 CCDS5691.1, CCDS5692.1, CCDS47660.1 7q22.1 2013-01-11 ENSG00000085514 ENSG00000085514 29992 Immunoglobulin superfamily / V-set domain containing 20396 protein-coding gene gene with protein product 605341 NA 10660620 Standard NM_013439 NM_178272 NA Approved FDF03 uc003uuo.1 Q9UKJ1 OTTHUMG00000155248 ENST00000198536.2:c.65-9C>T chr7.hg19:g.99971658C>T NA Q8NHI1 hg19 CCDS5691.1 0.02 0.896925 TCCxTCC COVERED NOVEL PILRA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339016.1 3 4.348315 KEEP 0 4 103 51 1759 CC 1 0.999862 0 + 5 40 140 0 0 7.991806 86 60 3006 206 ENST00000198536.2 0.054945 0.999862 ORAI2 80228 __UNKNOWN__ __UNKNOWN__ 7 102089323 102089323 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:102089323T>C ENST00000356387.2 + 0 2824 ORAI2_ENST00000478730.2_3'UTR NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 NA NA growth cone (GO:0030426)|integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 gagcgaaactttgtctaaaaa 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF258552 CCDS5722.1 7q22.1 2007-08-14 2007-08-14 2007-08-14 ENSG00000160991 ENSG00000160991 80228 ORAI calcium release-activated calcium modulators 21667 protein-coding gene gene with protein product CAP-binding protein complex interacting protein 2 610929 chromosome 7 open reading frame 19, transmembrane protein 142B C7orf19, TMEM142B NA 16582901 Standard NM_032831 NM_001126340 NA Approved CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8 uc003uzj.3 Q96SN7 OTTHUMG00000157722 ENST00000356387.2:c.*1824T>C chr7.hg19:g.102089323T>C NA Q6IA68|Q8WY94|Q9H9Y3 hg19 CCDS5722.1 0.02 1.771689 ACTxTGT COVERED NOVEL ORAI2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349509.2 12 5.64829 KEEP 0 1 35 31 908 TT 0.999998 0.986151 0 + 5 60 161 2 0 11.298309 48 70 1356 127 ENST00000356387.2 0.09434 0.986153 ORAI2 80228 __UNKNOWN__ __UNKNOWN__ 7 102093170 102093170 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:102093170C>T ENST00000356387.2 + 0 6671 NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 NA NA growth cone (GO:0030426)|integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 attacaggtgcgagccaccat 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF258552 CCDS5722.1 7q22.1 2007-08-14 2007-08-14 2007-08-14 ENSG00000160991 ENSG00000160991 80228 ORAI calcium release-activated calcium modulators 21667 protein-coding gene gene with protein product CAP-binding protein complex interacting protein 2 610929 chromosome 7 open reading frame 19, transmembrane protein 142B C7orf19, TMEM142B NA 16582901 Standard NM_032831 NM_001126340 NA Approved CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8 uc003uzj.3 Q96SN7 OTTHUMG00000157722 ENST00000356387.2:c.*5671C>T chr7.hg19:g.102093170C>T NA Q6IA68|Q8WY94|Q9H9Y3 hg19 CCDS5722.1 0.02 1.175294 GTGxGAG COVERED NOVEL ORAI2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349509.2 28 3.080996 KEEP 0 5 147 62 2155 CC 1 0.999907 0 + 11 60 332 0 0 24.114203 76 60 2587 233 ENST00000356387.2 0.126437 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 102318884 102318884 __UNKNOWN__ IGR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:102318884G>A NA NA POLR2J2 (6796 upstream) : FAM185A (70533 downstream) NA NA NA caaagtgctgggattacaggT 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr7.hg19:g.102318884G>A NA hg19 0.02 3.332936 CTGxGAT COVERED NOVEL 0 32 20.739874 KEEP 14 0 0 69 2352 GG 1 0.999991 0 6 60 193 0 0 12.507607 87 60 2960 242 0.064516 0.999991 NRCAM 4897 __UNKNOWN__ __UNKNOWN__ 7 107815858 107815858 __UNKNOWN__ Intron SNP T T A rs11983886 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:107815858T>A ENST00000379024.4 - 27 3504 NRCAM_ENST00000425651.2_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379028.3_Intron|NRCAM_ENST00000379022.4_Intron|NRCAM_ENST00000351718.4_Intron NM_001193582.1|NM_001193583.1|NM_001193584.1 NP_001180511.1|NP_001180512.1|NP_001180513.1 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416) axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202) ankyrin binding (GO:0030506) breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AACACACCCATGAGCATGTAT 0.373 NA NA T||| 3284 0.655751 0.3124 0.7882 5008 , , NA 19794 0.8849 NA 0.7614 False NA ,,, NA NA NA 2504 0.681 NA NA NA NA 0 T ,,,, 518,866 98,322,272 133 102 111 ,,,, -2.9 1 7 dbSNP_120 111 2403,779 908,587,96 no intron,intron,intron,intron,intron NRCAM NM_001037132.2,NM_001193582.1,NM_001193583.1,NM_001193584.1,NM_005010.4 ,,,, 1006,909,368 AA,AT,TT 24.4815,37.4277,36.0272 ,,,, ,,,, 107815858 2921,1645 692 1591 2283 SO:0001627 intron_variant CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1 7q31 2013-02-11 ENSG00000091129 ENSG00000091129 4897 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7994 protein-coding gene gene with protein product NgCAM-related cell adhesion molecule 601581 NA 8812479 Standard NM_001037132 NM_001037132 NA Approved KIAA0343, Bravo uc022aka.1 Q92823 OTTHUMG00000154973 ENST00000379024.4:c.3095-56A>T chr7.hg19:g.107815858T>A NA A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4 hg19 CCDS55153.1 0.02 1.94129 CCAxGAG COVERED NOVEL NRCAM-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337863.2 4 5.416016 KEEP 0 0 0 18 557 TT 0.999859 0.963638 0 - 6 60 180 0 0 12.903228 44 60 1346 96 ENST00000379024.4 0.12 0.963774 CFTR 1080 __UNKNOWN__ __UNKNOWN__ 7 117188682 117188682 __UNKNOWN__ Intron SNP G G T rs10229820|rs562195055|rs200454589 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:117188682G>T ENST00000003084.6 + 10 1341 CFTR_ENST00000454343.1_Intron NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) NA NA cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234) ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820) gtgtgtgtgtgtTTTTTTAAC 0.313 NA NA Cystic Fibrosis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 T 449,3951 29,391,1780 18 18 18 -4.2 0 7 dbSNP_119 18 1146,7430 275,596,3417 no intron CFTR NM_000492.3 304,987,5197 TT,TG,GG 13.3629,10.2045,12.2919 117188682 1595,11381 2200 4288 6488 SO:0001627 intron_variant Familial Cancer Database CF M28668 CCDS5773.1 7q31-q32 2014-09-17 2006-09-18 ENSG00000001626 ENSG00000001626 1080 Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators, ATP binding cassette transporters / subfamily C 1884 protein-coding gene gene with protein product ATP-binding cassette sub-family C, member 7 602421 cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) CF, ABCC7 NA 2772657 Standard NM_000492 XM_006715842 NA Approved MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP uc003vjd.3 P13569 OTTHUMG00000023076 ENST00000003084.6:c.1210-13G>T chr7.hg19:g.117188682G>T NA Q20BG8|Q20BH2|Q2I0A1|Q2I102 hg19 CCDS5773.1 0.02 1.65741 TGTxTTT COVERED NOVEL CFTR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059397.3 30 5.150846 KEEP 6 1 28 27 951 GG 0.999988 0.997885 0 + 5 31 150 1 1 9.773833 59 60 2049 154 ENST00000003084.6 0.078125 0.997898 CFTR 1080 __UNKNOWN__ __UNKNOWN__ 7 117188797 117188797 __UNKNOWN__ Missense_Mutation SNP A A G rs201434579 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:117188797A>G ENST00000003084.6 + 10 1444 c.1312A>G c.(1312-1314)Act>Gct p.T438A CFTR_ENST00000454343.1_Intron NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 438 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234) ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820) ACTTCTTGGTACTCCTGTCCT 0.378 NA NA Cystic Fibrosis NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 29 29 29 NA NA 7 NA 117188797 2200 4278 6478 SO:0001583 missense Familial Cancer Database CF M28668 CCDS5773.1 7q31-q32 2014-09-17 2006-09-18 ENSG00000001626 ENSG00000001626 1080 Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators, ATP binding cassette transporters / subfamily C 1884 protein-coding gene gene with protein product ATP-binding cassette sub-family C, member 7 602421 cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) CF, ABCC7 NA 2772657 Standard NM_000492 XM_006715842 NA Approved MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP uc003vjd.3 P13569 OTTHUMG00000023076 ENST00000003084.6:c.1312A>G chr7.hg19:g.117188797A>G ENSP00000003084:p.Thr438Ala NA Q20BG8|Q20BH2|Q2I0A1|Q2I102 hg19 CCDS5773.1 0.02 2.017934 GGTxCTC COVERED . . . . . . . . . . A 10.88 1.475753 0.26511 . . ENSG00000001626 ENST00000003084;ENST00000426809 D;D 0.90261 -2.64;-2.64 4.85 -6.7 0.01766 ABC transporter, transmembrane domain, type 1 (1);ABC transporter-like (1); 0.540708 0.21591 N 0.072100 T 0.74238 0.3690 N 0.16233 0.39 0.48632 D 0.999682 B 0.02656 0.0 B 0.01281 0.0 T 0.53012 -0.8498 10 0.12103 T 0.63 -0.1562 7.66 0.28398 0.2288:0.1026:0.5586:0.1101 . 438 P13569 CFTR_HUMAN A 438;408 ENSP00000003084:T438A;ENSP00000389119:T408A ENSP00000003084:T438A T + 1 0 CFTR 116976033 0.012000 0.17670 0.796000 0.32109 0.991000 0.79684 0.161000 0.16481 -0.965000 0.03591 -0.263000 0.10527 ACT NOVEL CFTR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059397.3 11 8.121959 KEEP 51 0 0 27 802 AA 0.999859 0.993563 0 + 12 31 431 0 0 35.415732 52 52 1486 206 ENST00000003084.6 0.1875 0.993703 NAA38 84316 __UNKNOWN__ __UNKNOWN__ 7 117825681 117825681 __UNKNOWN__ Intron SNP A A G rs45604739 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:117825681A>G ENST00000249299.2 + 2 223 NAA38_ENST00000422760.1_5'UTR|NAA38_ENST00000424702.1_Intron NM_016200.4 NP_057284.1 Q9BRA0 LSMD1_HUMAN N(alpha)-acetyltransferase 38, NatC auxiliary subunit NA NA negative regulation of apoptotic process (GO:0043066) cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 ATTCCCTAAGAAACACTTTCT 0.348 NA NA A||| 1870 0.373403 0.1203 0.4078 5008 , , NA 20341 0.2937 NA 0.5676 False NA ,,, NA NA NA 2504 0.5736 NA NA NA NA 0 A 823,3583 325.3+/-299.0 72,679,1452 215 187 197 3.9 0 7 dbSNP_127 197 4747,3853 607.6+/-395.3 1311,2125,864 no intron NAA38 NM_016200.4 1383,2804,2316 GG,GA,AA 44.8023,18.6791,42.8264 117825681 5570,7436 2203 4300 6503 SO:0001627 intron_variant CCDS11122.1 17p13.1 2014-01-21 2014-01-21 2014-01-21 ENSG00000183011 84316 N(alpha)-acetyltransferase subunits 28212 protein-coding gene gene with protein product NA LSM domain containing 1 LSMD1 NA 16484612, 19398576 Standard NM_032356 NM_032356 NA Approved MGC14151, PFAAP2 uc002gja.3 Q9BRA0 ENST00000249299.2:c.32-27A>G chr7.hg19:g.117825681A>G NA Q8N4M0 hg19 CCDS5775.1 0.02 5.271533 AAGxAAC COVERED NOVEL NAA38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346774.2 6 49.042827 KEEP 0 0 0 163 5046 AA 1 1 0 + 6 60 201 0 0 11.594665 171 60 5308 498 ENST00000249299.2 0.033898 1 NAA38 84316 __UNKNOWN__ __UNKNOWN__ 7 117825834 117825834 __UNKNOWN__ Intron SNP A A G rs2041527 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:117825834A>G ENST00000249299.2 + 2 264 NAA38_ENST00000422760.1_Intron|NAA38_ENST00000424702.1_Intron NM_016200.4 NP_057284.1 Q9BRA0 LSMD1_HUMAN N(alpha)-acetyltransferase 38, NatC auxiliary subunit NA NA negative regulation of apoptotic process (GO:0043066) cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 TCTAATGCCTAGACAGCACAT 0.358 NA NA A||| 3337 0.666334 0.6498 0.6153 5008 , , NA 17387 0.6429 NA 0.6203 False NA ,,, NA NA NA 2504 0.7965 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11122.1 17p13.1 2014-01-21 2014-01-21 2014-01-21 ENSG00000183011 84316 N(alpha)-acetyltransferase subunits 28212 protein-coding gene gene with protein product NA LSM domain containing 1 LSMD1 NA 16484612, 19398576 Standard NM_032356 NM_032356 NA Approved MGC14151, PFAAP2 uc002gja.3 Q9BRA0 ENST00000249299.2:c.72+86A>G chr7.hg19:g.117825834A>G NA Q8N4M0 hg19 CCDS5775.1 0.02 -0.394644 CCTxGAC COVERED NOVEL NAA38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346774.2 2 10.830781 KEEP 0 0 0 36 1086 AA 0.999999 0.926639 0 + 4 60 139 0 0 9.989571 40 60 1207 107 ENST00000249299.2 0.090909 0.92664 ING3 54556 __UNKNOWN__ __UNKNOWN__ 7 120616010 120616010 __UNKNOWN__ 3'UTR SNP C C T rs13881 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:120616010C>T ENST00000315870.5 + 0 2517 NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 NA NA chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812) methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) GGTGTTTTGACTGGAGGCAAT 0.368 NA NA C||| 1120 0.223642 0.4924 0.1383 5008 , , NA 13124 0.0526 NA 0.2187 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF074968 CCDS5778.1, CCDS35497.1 7q31 2013-01-28 ENSG00000071243 ENSG00000071243 54556 Zinc fingers, PHD-type 14587 protein-coding gene gene with protein product 607493 NA 12080476 Standard NM_019071 NM_019071 NA Approved p47ING3, FLJ20089, Eaf4, MEAF4 uc003vjn.3 Q9NXR8 OTTHUMG00000141270 ENST00000315870.5:c.*1112C>T chr7.hg19:g.120616010C>T NA A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081 hg19 CCDS5778.1 0.02 -0.412319 TGAxTGG COVERED NOVEL ING3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280453.2 2 5.116807 KEEP 0 0 0 17 610 CC 0.999366 0.941145 0 + 4 60 123 0 0 8.310708 42 60 1476 83 ENST00000315870.5 0.086957 0.941741 METTL2B 55798 __UNKNOWN__ __UNKNOWN__ 7 128146605 128146605 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:128146605A>G ENST00000480046.1 + 0 5692 Q6P1Q9 MET2B_HUMAN methyltransferase like 2B NA NA tRNA methylation (GO:0030488) tRNA (cytosine) methyltransferase activity (GO:0016427) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGGAGGGATTAAAGTATATGA 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002212 CCDS5803.2 7q32.2 2012-06-12 2006-02-09 2006-02-09 ENSG00000165055 ENSG00000165055 55798 18272 protein-coding gene gene with protein product 607846 methyltransferase like 2 METTL2 NA 11738826 Standard NM_018396 NM_018396 NA Approved METL, FLJ11350 uc003vnf.3 Q6P1Q9 OTTHUMG00000143738 ENST00000480046.1:c.*4635A>G chr7.hg19:g.128146605A>G NA B4DZ68|Q0IJ54|Q3B7J1 hg19 0.02 3.838778 ATTxAAG COVERED NOVEL METTL2B-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000289818.2 9 27.070022 KEEP 4 0 0 90 2586 AA 1 0.999989 0 + 5 27 174 0 0 11.039715 101 60 2946 299 ENST00000480046.1 0.04717 0.999989 FAM71F2 346653 __UNKNOWN__ __UNKNOWN__ 7 128323723 128323723 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:128323723C>T ENST00000480462.1 + 0 1546 Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 NA NA NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 ggtttcaccacgttgcccagg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC047310 CCDS47701.1, CCDS47702.1 7q32.1 2009-04-17 2007-11-20 2007-11-20 ENSG00000205085 ENSG00000205085 346653 27998 protein-coding gene gene with protein product NA family with sequence similarity 137, member B FAM137B NA 12477932 Standard XM_006715964 NA Approved uc003vnk.4 Q6NXP2 OTTHUMG00000158275 ENST00000480462.1:c.*510C>T chr7.hg19:g.128323723C>T NA Q0VGF6|Q0VGF7|Q86X39 hg19 CCDS47701.1 0.02 1.537597 CCAxGTT COVERED NOVEL FAM71F2-001 KNOWN non_canonical_conserved|basic|CCDS protein_coding NA protein_coding OTTHUMT00000350537.1 12 2.84431 KEEP 0 1 33 21 710 CC 0.999879 0.991974 0 + 4 60 125 0 0 8.0922 54 60 1813 119 ENST00000480462.1 0.068966 0.992094 NRF1 4899 __UNKNOWN__ __UNKNOWN__ 7 129348944 129348944 __UNKNOWN__ Missense_Mutation SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:129348944G>C ENST00000393232.1 + 6 753 c.636G>C c.(634-636)atG>atC p.M212I NRF1_ENST00000353868.4_Missense_Mutation_p.M212I|NRF1_ENST00000223190.4_Missense_Mutation_p.M212I|NRF1_ENST00000539636.1_Missense_Mutation_p.M51I|NRF1_ENST00000393230.2_Missense_Mutation_p.M212I|NRF1_ENST00000393231.3_Missense_Mutation_p.M212I|NRF1_ENST00000311967.2_Missense_Mutation_p.M212I NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 212 NA cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 TCCCAGAGATGCTCAAGTACT 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 243 259 253 NA NA 7 NA 129348944 2203 4300 6503 SO:0001583 missense L22454 CCDS5813.2 7q32 2008-07-18 ENSG00000106459 ENSG00000106459 4899 7996 protein-coding gene gene with protein product alpha palindromic-binding protein 600879 NA 2584221 Standard NM_001040110 NM_005011 NA Approved EWG, ALPHA-PAL uc003voz.3 Q16656 OTTHUMG00000143736 ENST00000393232.1:c.636G>C chr7.hg19:g.129348944G>C ENSP00000376924:p.Met212Ile NA A8K4C6|B4DDV6|Q15305|Q96AN2 hg19 CCDS5813.2 0.02 1.833529 GATxCTC COVERED . . . . . . . . . . G 34 5.400519 0.96030 . . ENSG00000106459 ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231 . . . 5.85 5.85 0.93711 Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1); 0.000000 0.85682 D 0.000000 T 0.79323 0.4426 M 0.74647 2.275 0.80722 D 1 D;D 0.64830 0.994;0.994 D;D 0.69654 0.965;0.965 T 0.77882 -0.2422 8 . . . -2.9719 19.1648 0.93551 0.0:0.0:1.0:0.0 . 212;212 Q96AN2;Q16656 .;NRF1_HUMAN I 212;212;51;212;212;212;212 . . M + 3 0 NRF1 129136180 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.499000 0.97975 2.772000 0.95346 0.655000 0.94253 ATG NOVEL NRF1-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289813.1 6 10.534438 KEEP 0 0 0 35 1251 GG 0.999999 0.999676 0 + 4 60 134 0 0 8.32983 80 60 2790 184 ENST00000393232.1 0.047619 0.999678 AKR1B10 57016 __UNKNOWN__ __UNKNOWN__ 7 134212567 134212567 __UNKNOWN__ 5'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:134212567T>C ENST00000359579.4 + 0 224 AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) NA NA cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 cactgcactctagccttggca 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF052577 CCDS5832.1 7q33 2010-04-08 ENSG00000198074 ENSG00000198074 57016 Aldo-keto reductases 382 protein-coding gene gene with protein product aldose reductase-like 1, aldo-keto reductase family 1, member B11 (aldose reductase-like), aldose reductase-like peptide, aldose reductase-related protein, small intestine reductase 604707 AKR1B11 NA 9765596, 9565553 Standard NM_020299 NM_020299 NA Approved AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn uc003vrr.3 O60218 OTTHUMG00000155356 ENST00000359579.4:c.-97T>C chr7.hg19:g.134212567T>C NA A4D1P1|O75890|Q6FHF3|Q8IWZ1 hg19 CCDS5832.1 0.02 1.625586 CTCxAGC COVERED NOVEL AKR1B10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339615.1 15 9.863131 KEEP 0 1 38 46 1382 TT 1 0.999726 0 + 4 60 137 0 0 8.69381 77 60 2291 176 ENST00000359579.4 0.049383 0.999726 MTPN 136319 __UNKNOWN__ __UNKNOWN__ 7 135613054 135613054 __UNKNOWN__ 3'UTR SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:135613054C>A ENST00000393085.3 - 0 2192 AC015987.1_ENST00000419211.1_RNA|AC015987.2_ENST00000416501.1_3'UTR NM_001128619.2|NM_145808.3 NP_001122091.2|NP_665807.1 P58546 MTPN_HUMAN myotrophin NA NA catecholamine metabolic process (GO:0006584)|cell growth (GO:0016049)|cerebellar granule cell differentiation (GO:0021707)|neuron differentiation (GO:0030182)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell growth (GO:0030307)|positive regulation of macromolecule biosynthetic process (GO:0010557)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein metabolic process (GO:0051247)|regulation of barbed-end actin filament capping (GO:2000812)|regulation of striated muscle tissue development (GO:0016202)|regulation of translation (GO:0006417)|skeletal muscle tissue regeneration (GO:0043403)|striated muscle cell differentiation (GO:0051146) axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|nucleus (GO:0005634) endometrium(1)|lung(4)|prostate(1) 6 acacacacacccacacacacc 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AC015987 CCDS5842.1 7q33-q35 2013-01-10 ENSG00000105887 ENSG00000105887 136319 Ankyrin repeat domain containing 15667 protein-coding gene gene with protein product granule cell differentiation protein 606484 NA 11474205 Standard NM_145808 NM_145808 NA Approved MYOTROPHIN, GCDP, V-1 P58546 OTTHUMG00000155627 ENST00000393085.3:c.*1620G>T chr7.hg19:g.135613054C>A NA hg19 CCDS5842.1 0.02 1.229042 CACxCAC COVERED NOVEL MTPN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340921.1 18 4.903018 KEEP 0 2 44 32 1136 CC 0.999998 0.999724 0 - 7 60 208 0 1 13.845509 73 60 2462 170 ENST00000393085.3 0.0875 0.999726 DGKI 9162 __UNKNOWN__ __UNKNOWN__ 7 137330274 137330274 __UNKNOWN__ Missense_Mutation SNP G G A rs376458759 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:137330274G>A ENST00000288490.5 - 6 748 c.748C>T c.(748-750)Cgt>Tgt p.R250C DGKI_ENST00000453654.2_De_novo_Start_OutOfFrame|DGKI_ENST00000446122.1_Missense_Mutation_p.R250C|DGKI_ENST00000424189.2_Missense_Mutation_p.R250C NM_004717.2 NP_004708.1 O75912 DGKI_HUMAN diacylglycerol kinase, iota 250 NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317) cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CAGTGATGACGTACAAAATTC 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 57 53 54 NA NA 7 NA 137330274 2203 4300 6503 SO:0001583 missense AF061936 CCDS5845.1 7q32.3-q33 2013-01-10 ENSG00000157680 ENSG00000157680 9162 Ankyrin repeat domain containing 2855 protein-coding gene gene with protein product 604072 NA 9830018 Standard NM_004717 NM_004717 NA Approved DGK-IOTA uc003vtt.3 O75912 OTTHUMG00000155697 ENST00000288490.5:c.748C>T chr7.hg19:g.137330274G>A ENSP00000288490:p.Arg250Cys NA A4D1Q9|Q9NZ49 hg19 CCDS5845.1 0.02 1.348284 GACxTAC COVERED . . . . . . . . . . G 19.55 3.849126 0.71603 . . ENSG00000157680 ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122 T;T 0.36340 1.26;1.46 5.63 5.63 0.86233 . 0.000000 0.85682 D 0.000000 T 0.59742 0.2216 M 0.79123 2.44 0.80722 D 1 D 0.89917 1.0 D 0.78314 0.991 T 0.62959 -0.6743 10 0.72032 D 0.01 . 12.2064 0.54355 0.0:0.0:0.83:0.17 . 250 O75912 DGKI_HUMAN C 198;250;250;250 ENSP00000288490:R250C;ENSP00000399131:R250C ENSP00000288490:R250C R - 1 0 DGKI 136980814 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 3.575000 0.53870 2.665000 0.90641 0.655000 0.94253 CGT NOVEL DGKI-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341286.3 4 7.825502 KEEP 0 0 0 26 911 GG 0.999957 0.990921 0 - 4 60 124 0 0 7.872807 58 60 1975 134 ENST00000288490.5 0.064516 0.990964 MKRN1 23608 __UNKNOWN__ __UNKNOWN__ 7 140153601 140153601 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:140153601T>A ENST00000255977.2 - 0 2389 NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 NA NA protein polyubiquitination (GO:0000209) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) ACCCACACACTCACACCATGT 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF192784 CCDS5860.1, CCDS47725.1 7q34 2013-01-09 2008-08-13 ENSG00000133606 ENSG00000133606 23608 RING-type (C3HC4) zinc fingers 7112 protein-coding gene gene with protein product 607754 NA 10843807 Standard NM_013446 NM_013446 NA Approved RNF61 uc003vvt.2 Q9UHC7 OTTHUMG00000157412 ENST00000255977.2:c.*716A>T chr7.hg19:g.140153601T>A NA A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2 hg19 CCDS5860.1 0.02 4.289294 CACxCAC COVERED NOVEL MKRN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348752.1 41 31.570747 KEEP 0 3 88 136 4227 TT 1 1 0 - 11 60 334 0 2 20.883249 162 60 4971 481 ENST00000255977.2 0.063584 1 PRSS37 136242 __UNKNOWN__ __UNKNOWN__ 7 141537116 141537116 __UNKNOWN__ Intron SNP G G A rs7805542 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:141537116G>A ENST00000350549.3 - 4 802 PRSS37_ENST00000438520.1_Intron NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 NA NA binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604) extracellular region (GO:0005576)|nucleus (GO:0005634) serine-type endopeptidase activity (GO:0004252) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 CTGACCACCAGCCTCTATTTC 0.433 NA NA G||| 764 0.152556 0.0817 0.1354 5008 , , NA 17930 0.2222 NA 0.163 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34764.1 7q34 2010-05-07 ENSG00000165076 ENSG00000165076 136242 Serine peptidases / Serine peptidases 29211 protein-coding gene gene with protein product NA NA Standard NM_001008270 NM_001008270 NA Approved uc003vws.2 A4D1T9 OTTHUMG00000157174 ENST00000350549.3:c.431-68C>T chr7.hg19:g.141537116G>A NA B2RPB5 hg19 CCDS34764.1 0.02 -0.428871 CCAxCCT COVERED NOVEL PRSS37-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347763.1 3 6.922371 KEEP 0 0 0 23 797 GG 0.999892 0.954388 0 - 4 60 120 0 0 7.972864 43 60 1526 96 ENST00000350549.3 0.085106 0.954491 MGAM 8972 __UNKNOWN__ __UNKNOWN__ 7 141755987 141755987 __UNKNOWN__ Intron SNP G G T rs2961080 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:141755987G>T ENST00000475668.2 + 29 3634 MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) NA NA carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTCCTTGAAGGCAAAATCTTC 0.373 NA NA t||| 2316 0.46246 0.5242 0.6427 5008 , , NA 20931 0.2073 NA 0.5527 False NA ,,, NA NA NA 2504 0.4213 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF016833 CCDS47727.1 7q34 2012-10-03 ENSG00000257335 ENSG00000257335 8972 7043 protein-coding gene gene with protein product 154360 NA 9446624 Standard NM_004668 NA Approved MGA uc003vwy.3 O43451 OTTHUMG00000158395 ENST00000475668.2:c.3580+91G>T chr7.hg19:g.141755987G>T NA Q0VAX6|Q75ME7|Q86UM5 hg19 0.02 -0.350918 AAGxCAA COVERED NOVEL MGAM-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000351290.4 5 5.116647 KEEP 0 0 0 17 595 GG 0.999366 0.877152 0 + 3 60 95 0 0 6.341076 36 60 1289 76 ENST00000475668.2 0.076923 0.877708 OR2A2 442361 __UNKNOWN__ __UNKNOWN__ 7 143806688 143806688 __UNKNOWN__ Missense_Mutation SNP C C A rs10230228 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:143806688C>A ENST00000408979.2 + 1 82 c.13C>A c.(13-15)Cag>Aag p.Q5K NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 5 NA Q -> K (in dbSNP:rs10230228). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GGAAGGCAACCAGACATGGAT 0.498 NA NA .||| 780 0.155751 0.3888 0.1297 5008 , , NA 18028 0 NA 0.166 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 C LYS/GLN 1435,2573 247,941,816 106 103 104 13 2.7 1 7 dbSNP_119 104 1680,6692 156,1368,2662 yes missense OR2A2 NM_001005480.2 53 403,2309,3478 AA,AC,CC 20.0669,35.8034,25.1616 benign 5/319 143806688 3115,9265 2004 4186 6190 SO:0001583 missense CCDS43671.1 7q35 2013-09-20 2004-03-10 ENSG00000221989 ENSG00000221989 442361 GPCR / Class A : Olfactory receptors 8230 protein-coding gene gene with protein product NA OR2A2P, OR2A17P NA Standard NM_001005480 NA Approved OST008 uc011ktz.2 Q6IF42 OTTHUMG00000158001 ENST00000408979.2:c.13C>A chr7.hg19:g.143806688C>A ENSP00000386209:p.Gln5Lys NA B2RN85|Q8NGT6 hg19 CCDS43671.1 0.02 2.982367 AACxAGA COVERED 364 0.16666666666666666 193 0.39227642276422764 51 0.1408839779005525 0 0.0 120 0.158311345646438 C 11.74 1.729249 0.30684 0.358034 0.200669 ENSG00000221989 ENST00000408979 T 0.00625 6.14 3.61 2.68 0.31781 . . . . . T 0.00012 0.0000 L 0.54908 1.71 0.80722 P 0.0 B 0.15719 0.014 B 0.17433 0.018 T 0.29941 -0.9995 8 0.45353 T 0.12 . 8.8126 0.34976 0.0:0.7679:0.2321:0.0 rs10230228 5 Q6IF42 OR2A2_HUMAN K 5 ENSP00000386209:Q5K ENSP00000386209:Q5K Q + 1 0 OR2A2 143437621 0.002000 0.14202 0.996000 0.52242 0.990000 0.78478 -0.074000 0.11450 0.802000 0.34089 0.609000 0.83330 CAG NOVEL OR2A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349978.1 7 23.777085 KEEP 0 0 0 79 2754 CC 1 0.999996 0 + 6 60 173 0 0 9.998396 107 60 3724 275 ENST00000408979.2 0.053097 0.999996 ZNF425 155054 __UNKNOWN__ __UNKNOWN__ 7 148800576 148800576 __UNKNOWN__ 3'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:148800576A>C ENST00000378061.2 - 0 2519 NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) tcccaaagtaatgggattaca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056498 CCDS34773.1 7q36.1 2013-01-08 ENSG00000204947 ENSG00000204947 155054 Zinc fingers, C2H2-type, - 20690 protein-coding gene gene with protein product NA NA Standard XM_088140 NM_001001661 NA Approved uc003wfj.3 Q6IV72 OTTHUMG00000158971 ENST00000378061.2:c.*128T>G chr7.hg19:g.148800576A>C NA B3KPM1|Q08AG3 hg19 CCDS34773.1 0.02 3.971388 GTAxTGG COVERED NOVEL ZNF425-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352726.1 12 10.799586 KEEP 0 2 75 62 1895 AA 1 1 0 - 5 60 170 0 0 10.385932 114 60 3349 241 ENST00000378061.2 0.042017 1 REPIN1 29803 __UNKNOWN__ __UNKNOWN__ 7 150068933 150068933 __UNKNOWN__ Silent SNP T T C rs6722 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:150068933T>C ENST00000489432.2 + 3 957 c.774T>C c.(772-774)gcT>gcC p.A258A REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Silent_p.A201A|REPIN1_ENST00000397281.2_Silent_p.A201A|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000425389.2_Silent_p.A201A|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Silent_p.A201A NM_001099695.1 NP_001093165.1 Q9BWE0 REPI1_HUMAN replication initiator 1 201 NA DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273) cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) TGCACGTAGCTGAGGCCCTGG 0.746 NA NA C||| 2082 0.415735 0.4894 0.2176 5008 , , NA 11294 0.4673 NA 0.3181 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 C ,,, 1586,2058 384,818,620 8 10 10 774,603,603,603 -2.6 0.8 7 dbSNP_52 10 2511,5575 452,1607,1984 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous REPIN1 NM_001099695.1,NM_001099696.2,NM_013400.3,NM_014374.3 ,,, 836,2425,2604 CC,CT,TT 31.0537,43.5236,34.9275 ,,, 258/625,201/568,201/568,201/568 150068933 4097,7633 1822 4043 5865 SO:0001819 synonymous_variant AF201303 CCDS43677.1, CCDS47745.1 7q36.1 2013-01-08 2003-08-07 2003-08-08 29803 Zinc fingers, C2H2-type 17922 protein-coding gene gene with protein product replication initiation region protein (60kD), zinc finger protein AP4, zinc finger protein 464 (RIP60) NA zinc finger protein 464 (RIP60) ZNF464 NA 10606657 Standard NM_014374 NM_013400 NA Approved RIP60, AP4, H_DJ0584D14.12, Zfp464 uc010lpr.1 Q9BWE0 ENST00000489432.2:c.774T>C chr7.hg19:g.150068933T>C NA C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5 hg19 CCDS47745.1 0.02 5.346901 AGCxGAG COVERED NOVEL REPIN1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000350705.2 3 29.484213 KEEP 0 0 0 98 2957 TT 1 1 0 + 6 60 203 0 0 12.027381 156 60 4612 316 ENST00000489432.2 0.037037 1 GIMAP6 474344 __UNKNOWN__ __UNKNOWN__ 7 150322742 150322742 __UNKNOWN__ 3'UTR SNP C C T rs3088115 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:150322742C>T ENST00000328902.5 - 0 3160 NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 NA NA cytosol (GO:0005829) GTP binding (GO:0005525) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTACcaattccctcaaactt 0.313 NA NA C||| 1513 0.302117 0.3487 0.2565 5008 , , NA 18317 0.2927 NA 0.3101 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026343 CCDS34778.1, CCDS59087.1, CCDS75676.1 7q36.1 2014-04-04 ENSG00000133561 ENSG00000133561 474344 GTPases, IMAP 21918 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 6 NA NA 15474311 Standard NM_024711 NM_001244072 NA Approved FLJ22690, IAN6 uc022apv.1 Q6P9H5 OTTHUMG00000159137 ENST00000328902.5:c.*2065G>A chr7.hg19:g.150322742C>T NA C9J7B6|D3DWZ4|Q5ZPR6|Q9H612 hg19 CCDS34778.1 0.02 1.68079 ATTxCCT COVERED NOVEL GIMAP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353457.1 4 11.43645 KEEP 0 0 0 38 1286 CC 1 0.984161 0 - 5 60 154 0 0 10.394131 53 60 1769 123 ENST00000328902.5 0.086207 0.984161 GIMAP6 474344 __UNKNOWN__ __UNKNOWN__ 7 150324825 150324825 __UNKNOWN__ Silent SNP C C T rs3735084 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:150324825C>T ENST00000328902.5 - 3 1077 c.861G>A c.(859-861)ctG>ctA p.L287L GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 287 NA cytosol (GO:0005829) GTP binding (GO:0005525) p.L287L(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGCCTTCCCCAGCAGGCATC 0.587 NA NA C||| 1424 0.284345 0.2829 0.2507 5008 , , NA 19513 0.2956 NA 0.3091 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1263,3143 427.8+/-341.7 197,869,1137 77 68 72 861 1.8 0 7 dbSNP_107 72 2636,5964 419.2+/-353.0 412,1812,2076 no coding-synonymous GIMAP6 NM_024711.5 609,2681,3213 TT,TC,CC 30.6512,28.6655,29.9785 287/293 150324825 3899,9107 2203 4300 6503 SO:0001819 synonymous_variant AK026343 CCDS34778.1, CCDS59087.1, CCDS75676.1 7q36.1 2014-04-04 ENSG00000133561 ENSG00000133561 474344 GTPases, IMAP 21918 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 6 NA NA 15474311 Standard NM_024711 NM_001244072 NA Approved FLJ22690, IAN6 uc022apv.1 Q6P9H5 OTTHUMG00000159137 ENST00000328902.5:c.861G>A chr7.hg19:g.150324825C>T NA C9J7B6|D3DWZ4|Q5ZPR6|Q9H612 hg19 CCDS34778.1 0.02 1.20158 CCCxAGC COVERED NOVEL GIMAP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353457.1 7 20.780632 KEEP 0 1 31 80 2741 CC 1 0.999835 0 - 7 60 207 0 0 13.439508 81 60 2813 226 ENST00000328902.5 0.079545 0.999835 TMEM176A 55365 __UNKNOWN__ __UNKNOWN__ 7 150498764 150498764 __UNKNOWN__ Silent SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:150498764C>G ENST00000484928.1 + 2 707 c.126C>G c.(124-126)ccC>ccG p.P42P TMEM176A_ENST00000461345.1_Intron|TMEM176A_ENST00000004103.3_Silent_p.P42P Q96HP8 T176A_HUMAN transmembrane protein 176A 42 NA negative regulation of dendritic cell differentiation (GO:2001199) integral component of membrane (GO:0016021) breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCTGCGGCCCCGGGCCACCC 0.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 12 12 12 NA NA 7 NA 150498764 2185 4286 6471 SO:0001819 synonymous_variant AF258340 CCDS5909.1 7q36.1 2006-09-04 ENSG00000002933 ENSG00000002933 55365 24930 protein-coding gene gene with protein product 610334 NA 12097419, 8889548 Standard NM_018487 NM_018487 NA Approved HCA112 uc003whx.1 Q96HP8 OTTHUMG00000158114 ENST00000484928.1:c.126C>G chr7.hg19:g.150498764C>G NA D3DX00|Q9NYC7 hg19 CCDS5909.1 0.02 8.362964 GCCxCGG COVERED NOVEL TMEM176A-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350222.1 2 5.181029 KEEP 0 8 277 114 3940 CC 1 1 0 + 14 60 494 0 0 33.932586 190 60 6702 473 ENST00000484928.1 0.068627 1 ABCF2 10061 __UNKNOWN__ __UNKNOWN__ 7 150916228 150916228 __UNKNOWN__ Silent SNP G G A rs6949587 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:150916228G>A ENST00000287844.2 - 8 1048 c.939C>T c.(937-939)taC>taT p.Y313Y ABCF2_ENST00000222388.2_Silent_p.Y313Y|ABCF2_ENST00000473874.1_5'UTR NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 313 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCGTCTTCACGTACTGATCAT 0.498 NA NA G||| 2100 0.419329 0.2095 0.4107 5008 , , NA 19404 0.7202 NA 0.4563 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 G , 992,3414 368.8+/-318.8 111,770,1322 173 151 158 939,939 0.3 1 7 dbSNP_116 158 3537,5063 514.7+/-378.4 717,2103,1480 no coding-synonymous,coding-synonymous ABCF2 NM_005692.3,NM_007189.1 , 828,2873,2802 AA,AG,GG 41.1279,22.5148,34.8224 , 313/635,313/624 150916228 4529,8477 2203 4300 6503 SO:0001819 synonymous_variant AJ005016 CCDS5922.1, CCDS5923.1 7q36.1 2012-03-14 ENSG00000033050 ENSG00000033050 10061 ATP binding cassette transporters / subfamily F 71 protein-coding gene gene with protein product 612510 NA 8894702 Standard NM_005692 NM_007189 NA Approved EST133090, ABC28, M-ABC1, HUSSY-18 uc003wjo.1 Q9UG63 OTTHUMG00000154570 ENST00000287844.2:c.939C>T chr7.hg19:g.150916228G>A NA O60864|Q75MJ0|Q75MJ1|Q96TE8 hg19 CCDS5923.1 0.02 1.432384 CACxTAC COVERED NOVEL ABCF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336086.1 5 8.728014 KEEP 0 0 0 29 992 GG 0.999997 0.998462 0 - 9 60 254 0 0 17.926005 63 60 2093 150 ENST00000287844.2 0.125 0.998465 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151933173 151933173 __UNKNOWN__ Intron SNP C C T rs199980812 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:151933173C>T ENST00000262189.6 - 16 2871 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA TATCTTTAAACGTATACTCCA 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.2653-155G>A chr7.hg19:g.151933173C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.438623 AAAxGTA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 2 8.728352 KEEP 0 0 0 29 1015 CC 0.999997 0.959856 0 - 4 60 124 0 0 8.259596 46 60 1556 119 ENST00000262189.6 0.08 0.959859 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962113 151962113 __UNKNOWN__ Intron SNP G G T rs374868690 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:151962113G>T ENST00000262189.6 - 8 1403 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GAATTGAAATGAAAACTTACT 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 G 0,4406 0,0,2203 108 100 103 -1.7 0.2 7 103 3,8589 1.2+/-3.3 0,3,4293 no intron MLL3 NM_170606.2 0,3,6496 TT,TG,GG 0.0349,0.0,0.0231 151962113 3,12995 2203 4296 6499 SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1184+9C>A chr7.hg19:g.151962113G>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 3.762898 AATxAAA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 4 10.53865 KEEP 15 6 182 99 3392 GG 1 1 0 - 9 49 243 0 0 13.65089 149 60 5100 364 ENST00000262189.6 0.056962 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962257 151962257 __UNKNOWN__ Silent SNP C C T rs62478357 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:151962257C>T ENST00000262189.6 - 8 1268 c.1050G>A c.(1048-1050)ccG>ccA p.P350P KMT2C_ENST00000355193.2_Silent_p.P350P NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 350 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA AGAGGTCTCCCGGGCTGTCGC 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 146 134 138 NA NA 7 NA 151962257 2203 4296 6499 SO:0001819 synonymous_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1050G>A chr7.hg19:g.151962257C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 6.077756 TCCxGGG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 21 24.691591 KEEP 67 12 382 216 7277 CC 1 1 0 - 18 49 553 0 0 35.91559 229 60 7750 756 ENST00000262189.6 0.072874 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962265 151962265 __UNKNOWN__ Missense_Mutation SNP C C T rs201834857 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:151962265C>T ENST00000262189.6 - 8 1260 c.1042G>A c.(1042-1044)Gac>Aac p.D348N KMT2C_ENST00000355193.2_Missense_Mutation_p.D348N NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 348 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) p.D348N(2) NA CCCGGGCTGTCGCACACTGCA 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) skin(2) 112 101 104 NA NA 7 NA 151962265 2203 4296 6499 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1042G>A chr7.hg19:g.151962265C>T ENSP00000262189:p.Asp348Asn NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 5.990734 TGTxGCA COVERED . . . . . . . . . . C 15.09 2.730606 0.48939 . . ENSG00000055609 ENST00000262189;ENST00000355193 D;D 0.98807 -5.15;-5.15 4.65 4.65 0.58169 Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1); 0.000000 0.43919 U 0.000512 D 0.98516 0.9505 L 0.47716 1.5 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 D 0.98479 1.0604 10 0.23302 T 0.38 . 17.9157 0.88950 0.0:1.0:0.0:0.0 . 348 Q8NEZ4 MLL3_HUMAN N 348 ENSP00000262189:D348N;ENSP00000347325:D348N ENSP00000262189:D348N D - 1 0 MLL3 151593198 1.000000 0.71417 1.000000 0.80357 0.048000 0.14542 7.772000 0.85439 2.271000 0.75665 0.557000 0.71058 GAC NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 20 24.331729 KEEP 71 11 339 200 6626 CC 1 1 0 - 14 49 425 0 0 26.518677 208 60 6882 686 ENST00000262189.6 0.063063 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970877 151970877 __UNKNOWN__ Missense_Mutation SNP G G A rs138627563 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:151970877G>A ENST00000262189.6 - 7 1143 c.925C>T c.(925-927)Cct>Tct p.P309S KMT2C_ENST00000355193.2_Missense_Mutation_p.P309S NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 309 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GCAGCACAAGGATAATGATAC 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 204 190 195 NA NA 7 NA 151970877 2203 4300 6503 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.925C>T chr7.hg19:g.151970877G>A ENSP00000262189:p.Pro309Ser NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 11.474222 AAGxATA COVERED . . . . . . . . . . G 19.24 3.790455 0.70337 . . ENSG00000055609 ENST00000262189;ENST00000355193 T;T 0.70045 -0.45;-0.45 4.87 4.87 0.63330 Zinc finger, PHD-type (1); 0.000000 0.44483 D 0.000455 D 0.83403 0.5247 M 0.83692 2.655 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.85377 0.1117 10 0.54805 T 0.06 . 18.3751 0.90433 0.0:0.0:1.0:0.0 . 309 Q8NEZ4 MLL3_HUMAN S 309 ENSP00000262189:P309S;ENSP00000347325:P309S ENSP00000262189:P309S P - 1 0 MLL3 151601810 1.000000 0.71417 0.804000 0.32291 0.996000 0.88848 9.781000 0.99029 2.423000 0.82170 0.650000 0.86243 CCT NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 20 12.995307 KEEP 19 16 483 213 7394 GG 1 1 0 - 20 49 588 1 0 35.07722 331 60 11412 869 ENST00000262189.6 0.05698 1 WDR60 55112 __UNKNOWN__ __UNKNOWN__ 7 158672627 158672627 __UNKNOWN__ Missense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr7:158672627G>A ENST00000407559.3 + 5 984 c.826G>A c.(826-828)Gtg>Atg p.V276M NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 276 NA cell projection organization (GO:0030030) cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CCAAAGCAACGTGGATAGAAA 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 70 75 73 NA NA 7 NA 158672627 1886 4096 5982 SO:0001583 missense CCDS47757.1 7q36.3 2013-11-15 ENSG00000126870 ENSG00000126870 55112 WD repeat domain containing 21862 protein-coding gene gene with protein product 615462 NA 23910462 Standard NM_018051 NM_018051 NA Approved FLJ10300, FAP163 uc003woe.4 Q8WVS4 OTTHUMG00000151443 ENST00000407559.3:c.826G>A chr7.hg19:g.158672627G>A ENSP00000384290:p.Val276Met NA Q9NW58 hg19 CCDS47757.1 0.02 1.283206 AACxTGG COVERED . . . . . . . . . . G 5.039 0.192894 0.09599 . . ENSG00000126870 ENST00000407559 T 0.21932 1.98 4.73 -9.46 0.00597 . 1.628290 0.03441 N 0.209255 T 0.07773 0.0195 N 0.04508 -0.205 0.09310 N 1 B 0.13145 0.007 B 0.06405 0.002 T 0.26744 -1.0094 10 0.44086 T 0.13 4.7115 4.3138 0.10982 0.5839:0.1544:0.0999:0.1619 . 276 Q8WVS4 WDR60_HUMAN M 276 ENSP00000384290:V276M ENSP00000384290:V276M V + 1 0 WDR60 158365388 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.937000 0.00685 -3.365000 0.00178 -1.839000 0.00587 GTG NOVEL WDR60-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322668.1 3 13.010702 KEEP 0 2 62 65 2203 GG 1 0.999881 0 + 5 60 146 0 0 8.566573 87 60 2942 225 ENST00000407559.3 0.054348 0.999881 ERICH1-AS1 619343 __UNKNOWN__ __UNKNOWN__ 8 960174 960174 __UNKNOWN__ RNA SNP G G C rs571397769 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:960174G>C ENST00000524139.1 + 0 1398 ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA P0C838 ERAS1_HUMAN ERICH1 antisense RNA 1 NA NA NA tgcacacacagacacatgcac 0.378 NA NA G||| 1 0.000199681 0 0 5008 , , NA 25634 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC022082, BC038783 8p23.3 2012-10-12 2012-08-15 2012-04-16 ENSG00000237647 ENSG00000237647 619343 Long non-coding RNAs 32290 non-coding RNA RNA, long non-coding NA chromosome 8 open reading frame 68, ERICH1 antisense RNA 1 (non-protein coding) C8orf68 NA Standard NR_073397 NA Approved uc003wpj.2 P0C838 OTTHUMG00000163635 ENST00000524139.1: chr8.hg19:g.960174G>C NA hg19 0.02 3.636707 ACAxACA COVERED NOVEL ERICH1-AS1-003 KNOWN basic antisense NA antisense OTTHUMT00000374625.1 45 18.961804 KEEP 0 0 0 63 2248 GG 1 1 0 + 6 60 203 2 1 12.891318 111 60 3948 288 ENST00000524139.1 0.051282 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 2148999 2148999 __UNKNOWN__ IGR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:2148999A>G NA NA MYOM2 (55619 upstream) : AC133633.2 (201992 downstream) NA NA NA ttgtgtgtgtatgtatgtgtA 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr8.hg19:g.2148999A>G NA hg19 0.02 3.485047 TGTxTGT COVERED NOVEL 0 41 6.980373 KEEP 0 2 71 48 1432 AA 1 1 0 5 60 165 1 0 9.797121 119 70 3491 270 0.040323 1 MFHAS1 9258 __UNKNOWN__ __UNKNOWN__ 8 8641145 8641145 __UNKNOWN__ 3'UTR SNP C C T rs2428 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:8641145C>T ENST00000276282.6 - 0 6132 NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 NA NA endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GTTTTGATACCACAAGTTGCA 0.393 NA NA C||| 2908 0.580671 0.3563 0.634 5008 , , NA 18091 0.878 NA 0.4553 False NA ,,, NA NA NA 2504 0.6687 NA NA NA Melanoma(103;1201 2045 17515 28966) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB016816 CCDS34844.1 8p23.1 2014-03-07 ENSG00000147324 ENSG00000147324 9258 16982 protein-coding gene gene with protein product leucine rich repeat containing 65, malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1 605352 NA 9973190 Standard NM_004225 NM_004225 NA Approved MASL1, LRRC65 uc003wsj.1 Q9Y4C4 OTTHUMG00000163676 ENST00000276282.6:c.*2387G>A chr8.hg19:g.8641145C>T NA Q96CI0 hg19 CCDS34844.1 0.02 -0.236848 TACxACA COVERED NOVEL MFHAS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374724.2 2 3.611738 KEEP 0 0 0 12 425 CC 0.993634 0.608508 0 - 3 60 90 0 0 6.343419 24 60 799 46 ENST00000276282.6 0.111111 0.612407 FAM167A 83648 __UNKNOWN__ __UNKNOWN__ 8 11302445 11302445 __UNKNOWN__ Intron SNP T T C rs11779875 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:11302445T>C ENST00000528897.1 - 2 223 FAM167A_ENST00000284486.4_Intron Q96KS9 F167A_HUMAN family with sequence similarity 167, member A NA NA breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 tcatggctagtccgggacgga 0.488 NA NA T||| 1818 0.363019 0.0749 0.4928 5008 , , NA 16697 0.6895 NA 0.328 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5981.1 8p23-p22 2010-08-27 2008-06-11 2008-06-11 ENSG00000154319 ENSG00000154319 83648 15549 protein-coding gene gene with protein product 610085 chromosome 8 open reading frame 13 C8orf13 NA Standard NM_053279 NA Approved uc003wtw.2 Q96KS9 OTTHUMG00000129361 ENST00000528897.1:c.397-128A>G chr8.hg19:g.11302445T>C NA A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0 hg19 CCDS5981.1 0.02 2.21412 TAGxCCG COVERED NOVEL FAM167A-003 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000383901.1 0 6.920008 KEEP 0 0 0 23 711 TT 0.999892 0.97386 0 - 4 60 144 0 0 10.118035 50 60 1560 104 ENST00000528897.1 0.074074 0.973965 BLK 640 __UNKNOWN__ __UNKNOWN__ 8 11417493 11417493 __UNKNOWN__ Intron SNP T T C rs10098664 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:11417493T>C ENST00000259089.4 + 11 1621 RP11-148O21.2_ENST00000533322.1_RNA|BLK_ENST00000529894.1_Intron NM_001715.2 NP_001706.2 P51451 BLK_HUMAN BLK proto-oncogene, Src family tyrosine kinase NA NA B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024) plasma membrane (GO:0005886) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713) endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TCTGGTACTGTTCAATAAATA 0.383 NA NA C||| 3200 0.638978 0.5703 0.6196 5008 , , NA 12327 0.9643 NA 0.4513 False NA ,,, NA NA NA 2504 0.6033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004473 CCDS5982.1 8p23-p22 2014-06-25 2014-06-25 ENSG00000136573 ENSG00000136573 640 SH2 domain containing 1057 protein-coding gene gene with protein product 191305 B lymphoid tyrosine kinase NA 7845672 Standard NM_001715 NA Approved MGC10442 uc003wty.3 P51451 OTTHUMG00000090729 ENST00000259089.4:c.1030-1318T>C chr8.hg19:g.11417493T>C NA Q16291|Q96IN1 hg19 CCDS5982.1 0.02 2.009247 CTGxTCA COVERED NOVEL BLK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207460.1 3 11.734034 KEEP 0 0 0 39 1227 TT 1 0.994422 0 + 6 60 184 0 0 12.593876 60 60 1899 145 ENST00000259089.4 0.090909 0.994422 C8orf49 606553 __UNKNOWN__ __UNKNOWN__ 8 11619079 11619079 __UNKNOWN__ Missense_Mutation SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:11619079A>G ENST00000525043.2 + 1 184 c.157A>G c.(157-159)Aca>Gca p.T53A Q96NF6 CH049_HUMAN chromosome 8 open reading frame 49 53 NA integral component of membrane (GO:0016021) NA tccagcctggacaacaacagc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK055534 8p23.1 2014-04-30 ENSG00000255394 ENSG00000255394 606553 32200 protein-coding gene gene with protein product GATA4 downstream membrane protein NA NA Standard NR_103552 NA Approved FLJ30972, G4DM uc003wud.1 Q96NF6 OTTHUMG00000165224 ENST00000525043.2:c.157A>G chr8.hg19:g.11619079A>G ENSP00000436777:p.Thr53Ala NA hg19 0.02 -0.306958 TGGxCAA COVERED . . . . . . . . . . A 0.199 -1.046793 0.01997 . . ENSG00000255394 ENST00000525043 T 0.22539 1.95 0.361 -0.721 0.11189 . . . . . T 0.11836 0.0288 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.29243 -1.0018 7 0.36615 T 0.2 . . . . . 53 E9PQH1 . A 53 ENSP00000436777:T53A ENSP00000436777:T53A T + 1 0 C8orf49 11656488 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -1.047000 0.03521 -0.560000 0.06102 -0.574000 0.04147 ACA NOVEL C8orf49-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000383661.1 6 2.406991 KEEP 1 0 0 8 243 AA 0.99257 0.7943 0 + 3 60 96 1 0 6.755118 28 60 830 58 ENST00000525043.2 0.096774 0.800245 C8orf49 606553 __UNKNOWN__ __UNKNOWN__ 8 11619635 11619635 __UNKNOWN__ 3'UTR SNP T T A rs2645455 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:11619635T>A ENST00000525043.2 + 0 740 Q96NF6 CH049_HUMAN chromosome 8 open reading frame 49 NA NA integral component of membrane (GO:0016021) NA AGAAAAAATCTTCAAAGCGAA 0.428 NA NA A||| 3487 0.696286 0.6263 0.6945 5008 , , NA 18546 0.8016 NA 0.6481 False NA ,,, NA NA NA 2504 0.7331 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055534 8p23.1 2014-04-30 ENSG00000255394 ENSG00000255394 606553 32200 protein-coding gene gene with protein product GATA4 downstream membrane protein NA NA Standard NR_103552 NA Approved FLJ30972, G4DM uc003wud.1 Q96NF6 OTTHUMG00000165224 ENST00000525043.2:c.*20T>A chr8.hg19:g.11619635T>A NA hg19 0.02 1.537742 ATCxTCA COVERED NOVEL C8orf49-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000383661.1 2 6.914751 KEEP 0 0 0 23 702 TT 0.999892 0.991987 0 + 4 60 125 0 0 7.944661 59 60 1827 117 ENST00000525043.2 0.063492 0.992094 MICU3 286097 __UNKNOWN__ __UNKNOWN__ 8 16942837 16942837 __UNKNOWN__ Intron SNP C C T rs2285264 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:16942837C>T ENST00000318063.5 + 6 819 NM_181723.2 NP_859074.1 Q86XE3 MICU3_HUMAN mitochondrial calcium uptake family, member 3 NA NA integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509) NA GGTATGTATACTAGATGCTGC 0.343 NA NA T||| 3521 0.703075 0.888 0.598 5008 , , NA 14569 0.8105 NA 0.5139 False NA ,,, NA NA NA 2504 0.6115 NA NA NA NA 0 T 3603,803 321.3+/-297.0 1485,633,85 96 103 100 1.5 0 8 dbSNP_100 100 4194,4406 584.4+/-391.7 1041,2112,1147 no intron EFHA2 NM_181723.2 2526,2745,1232 TT,TC,CC 48.7674,18.2251,40.0507 16942837 7797,5209 2203 4300 6503 SO:0001627 intron_variant BC032868 CCDS5999.1 8p22 2013-03-26 2013-03-26 2013-03-14 ENSG00000155970 ENSG00000155970 286097 EF-hand domain containing 27820 protein-coding gene gene with protein product 610633 EF hand domain family A2, EF-hand domain family, member A2 EFHA2 NA 23409044 Standard NM_181723 NM_181723 NA Approved DKFZp313A0139 uc003wxd.2 Q86XE3 OTTHUMG00000096965 ENST00000318063.5:c.777+10C>T chr8.hg19:g.16942837C>T NA Q8IYZ3 hg19 CCDS5999.1 0.02 1.689515 ATAxTAG COVERED NOVEL MICU3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214031.1 5 12.338532 KEEP 0 0 0 41 1467 CC 1 0.981955 0 + 4 60 132 0 0 8.853597 52 60 1847 146 ENST00000318063.5 0.071429 0.981955 MICU3 286097 __UNKNOWN__ __UNKNOWN__ 8 16942849 16942849 __UNKNOWN__ Intron SNP C C T rs2285265 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:16942849C>T ENST00000318063.5 + 6 819 NM_181723.2 NP_859074.1 Q86XE3 MICU3_HUMAN mitochondrial calcium uptake family, member 3 NA NA integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509) NA AGATGCTGCACTTTATCAATA 0.333 NA NA T||| 2431 0.485423 0.5953 0.4352 5008 , , NA 14777 0.4355 NA 0.3917 False NA ,,, NA NA NA 2504 0.5204 NA NA NA NA 0 T 2365,2041 537.6+/-374.8 673,1019,511 81 88 85 0.9 0 8 dbSNP_100 85 3181,5419 633.5+/-398.7 616,1949,1735 no intron EFHA2 NM_181723.2 1289,2968,2246 TT,TC,CC 36.9884,46.3232,42.6419 16942849 5546,7460 2203 4300 6503 SO:0001627 intron_variant BC032868 CCDS5999.1 8p22 2013-03-26 2013-03-26 2013-03-14 ENSG00000155970 ENSG00000155970 286097 EF-hand domain containing 27820 protein-coding gene gene with protein product 610633 EF hand domain family A2, EF-hand domain family, member A2 EFHA2 NA 23409044 Standard NM_181723 NM_181723 NA Approved DKFZp313A0139 uc003wxd.2 Q86XE3 OTTHUMG00000096965 ENST00000318063.5:c.777+22C>T chr8.hg19:g.16942849C>T NA Q8IYZ3 hg19 CCDS5999.1 0.02 1.742153 GCAxTTT COVERED NOVEL MICU3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214031.1 3 9.9324 KEEP 0 0 0 33 1168 CC 0.999998 0.963772 0 + 4 60 129 0 0 8.722813 47 60 1668 124 ENST00000318063.5 0.078431 0.963774 PPP3CC 5533 __UNKNOWN__ __UNKNOWN__ 8 22388857 22388857 __UNKNOWN__ Intron SNP G G A rs17733355 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:22388857G>A ENST00000240139.5 + 11 1468 PPP3CC_ENST00000397775.3_Intron|PPP3CC_ENST00000289963.8_Intron NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme NA NA apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) CGACTAAACTGTGCTAAGAGC 0.403 NA NA G||| 305 0.0609026 0.0038 0.0432 5008 , , NA 19111 0.0982 NA 0.1074 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34859.1, CCDS59094.1, CCDS59093.1 8p21.3 2010-03-17 2010-03-05 ENSG00000120910 ENSG00000120910 5533 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase, catalytic subunits 9316 protein-coding gene gene with protein product calcineurin A gamma, protein phosphatase 2B, catalytic subunit, gamma isoform 114107 protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma), protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform NA 1339277 Standard NM_005605 NM_005605 NA Approved CALNA3, PP2Bgamma uc011kzi.2 P48454 OTTHUMG00000163802 ENST00000240139.5:c.1142-881G>A chr8.hg19:g.22388857G>A NA B4DRT5|Q9BSS6|Q9H4M5 hg19 CCDS34859.1 0.02 2.655184 ACTxTGC COVERED NOVEL PPP3CC-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000375652.1 2 34.010405 KEEP 0 0 0 113 3975 GG 1 1 0 + 6 60 179 0 0 10.043396 133 60 4573 367 ENST00000240139.5 0.043165 1 DCTN6 10671 __UNKNOWN__ __UNKNOWN__ 8 30040514 30040514 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:30040514C>G ENST00000221114.3 + 7 561 NM_006571.3 NP_006562.1 O00399 DCTN6_HUMAN dynactin 6 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052) centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776) endometrium(1)|lung(1)|ovary(1)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) acaggcatgacccaccacgcc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84145 CCDS6076.1 8p12-p11 2003-03-20 ENSG00000104671 ENSG00000104671 10671 16964 protein-coding gene gene with protein product 612963 NA 9168138 Standard NM_006571 NM_006571 NA Approved WS-3 uc003xhy.3 O00399 OTTHUMG00000163828 ENST00000221114.3:c.475-77C>G chr8.hg19:g.30040514C>G NA B2RAC1 hg19 CCDS6076.1 0.02 1.807626 TGAxCCA COVERED NOVEL DCTN6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375815.2 13 5.153381 KEEP 0 1 37 30 1056 CC 0.999998 0.999833 0 + 4 60 142 0 0 9.128912 80 60 2750 171 ENST00000221114.3 0.047619 0.999835 NRG1 3084 __UNKNOWN__ __UNKNOWN__ 8 32613983 32613983 __UNKNOWN__ Missense_Mutation SNP T T C rs10503929 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:32613983T>C ENST00000287842.3 + 9 1317 c.857T>C c.(856-858)aTg>aCg p.M286T NRG1_ENST00000521670.1_Missense_Mutation_p.M289T|NRG1_ENST00000287845.5_Missense_Mutation_p.M260T|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.3_Missense_Mutation_p.M289T|NRG1_ENST00000338921.4_Missense_Mutation_p.M297T|NRG1_ENST00000539990.1_Missense_Mutation_p.M132T|NRG1_ENST00000523079.1_Missense_Mutation_p.M286T|NRG1_ENST00000356819.4_Missense_Mutation_p.M294T|NRG1_ENST00000519301.1_Missense_Mutation_p.M239T NM_001160004.1|NM_013957.3 NP_001153476.1|NP_039251.2 Q02297 NRG1_HUMAN neuregulin 1 289 NA activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060) apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634) cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CGAAACAATATGATGAACATT 0.473 NA NA T||| 337 0.0672923 0.0061 0.111 5008 , , NA 17966 0 NA 0.1928 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 T THR/MET,THR/MET,THR/MET,THR/MET,THR/MET,THR/MET,THR/MET,THR/MET,THR/MET,THR/MET 138,4268 99.4+/-138.0 1,136,2066 146 140 142 767,404,818,716,857,857,881,857,866,866 6 1 8 dbSNP_119 142 1553,7047 293.2+/-301.3 123,1307,2870 yes missense,missense,missense,missense,missense,missense,missense,missense,missense,missense NRG1 NM_001159995.1,NM_001159996.1,NM_001159999.1,NM_001160001.1,NM_001160004.1,NM_001160008.1,NM_013956.3,NM_013957.3,NM_013960.3,NM_013964.3 81,81,81,81,81,81,81,81,81,81 124,1443,4936 CC,CT,TT 18.0581,3.1321,13.0017 benign,benign,benign,benign,benign,benign,benign,benign,benign,benign 256/608,135/309,273/625,239/591,286/460,286/421,294/646,286/638,289/463,289/641 32613983 1691,11315 2203 4300 6503 SO:0001583 missense L12261 CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1 8p21-p12 2014-06-23 ENSG00000157168 ENSG00000157168 3084 Immunoglobulin superfamily / I-set domain containing 7997 protein-coding gene gene with protein product 142445 NRG1 intronic transcript 2 (non-protein coding) HGL, NRG1-IT2 NA 1350381, 8095334 Standard NM_013962 NA Approved HRG, NDF, GGF uc003xiu.2 Q02297 OTTHUMG00000163918 ENST00000287842.3:c.857T>C chr8.hg19:g.32613983T>C ENSP00000287842:p.Met286Thr NA A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3 hg19 CCDS6084.1 0.02 1.634375 ATAxGAT COVERED 200 0.09157509157509157 1 0.0020325203252032522 45 0.12430939226519337 0 0.0 154 0.20316622691292877 T 11.77 1.738097 0.30774 0.031321 0.180581 ENSG00000157168 ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000519240;ENST00000539990 T;T;T;T;T;T;T;T;T;T;T;T;T 0.54675 0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56 5.96 5.96 0.96718 Neuregulin 1-related, C-terminal (1); 0.287528 0.42964 D 0.000626 T 0.00073 0.0002 L 0.36672 1.1 0.26533 P 0.9742284 B;B;B;B;B;B;B;B;B;B 0.20671 0.042;0.001;0.034;0.015;0.047;0.002;0.015;0.0;0.015;0.0 B;B;B;B;B;B;B;B;B;B 0.27380 0.079;0.004;0.069;0.039;0.069;0.002;0.054;0.004;0.054;0.002 T 0.08493 -1.0719 9 0.26408 T 0.33 -2.8858 12.9023 0.58133 0.0:0.0:0.1353:0.8647 rs10503929;rs17732660;rs52791118;rs58325568;rs10503929 132;135;286;260;285;297;286;289;294;289 B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3 .;.;.;.;.;.;.;NRG1_HUMAN;.;. T 256;239;362;286;297;294;289;260;286;289;289;132;132 ENSP00000430053:M256T;ENSP00000429582:M239T;ENSP00000429067:M362T;ENSP00000430120:M286T;ENSP00000343395:M297T;ENSP00000349275:M294T;ENSP00000287840:M289T;ENSP00000287845:M260T;ENSP00000287842:M286T;ENSP00000384620:M289T;ENSP00000428828:M289T;ENSP00000428411:M132T;ENSP00000439276:M132T ENSP00000287840:M289T M + 2 0 NRG1 32733525 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 1.815000 0.38981 2.285000 0.76669 0.533000 0.62120 ATG NOVEL NRG1-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000376467.1 2 16.543789 KEEP 0 0 0 55 1613 TT 1 0.999678 0 + 4 60 137 0 0 8.650553 79 60 2339 200 ENST00000287842.3 0.048193 0.999678 TACC1 6867 __UNKNOWN__ __UNKNOWN__ 8 38707018 38707018 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:38707018C>T ENST00000317827.4 + 0 4274 TACC1_ENST00000276520.8_3'UTR|TACC1_ENST00000379931.3_3'UTR|TACC1_ENST00000330691.6_3'UTR|TACC1_ENST00000348567.4_3'UTR|TACC1_ENST00000519416.1_3'UTR|TACC1_ENST00000520615.1_3'UTR NM_006283.2 NP_006274.2 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634) breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) ATTCAGTATACGTATGTTTTC 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF049910 CCDS6109.1, CCDS47845.1, CCDS55224.1 8p11 2012-12-20 ENSG00000147526 ENSG00000147526 6867 11522 protein-coding gene gene with protein product 605301 NA Standard NM_006283 NM_006283 NA Approved uc010lwp.3 O75410 OTTHUMG00000164018 ENST00000317827.4:c.*1477C>T chr8.hg19:g.38707018C>T NA B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9 hg19 CCDS6109.1 0.02 1.534965 ATAxGTA COVERED NOVEL TACC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376768.1 1 3.008599 KEEP 0 0 0 10 312 CC 0.992708 0.96037 0 + 4 60 122 0 0 7.989305 48 60 1577 85 ENST00000317827.4 0.076923 0.967425 TM2D2 83877 __UNKNOWN__ __UNKNOWN__ 8 38847559 38847559 __UNKNOWN__ 3'UTR SNP G G T rs76467669 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:38847559G>T ENST00000456397.2 - 0 2030 TM2D2_ENST00000456845.2_3'UTR|TM2D2_ENST00000412303.1_3'UTR NM_078473.2 NP_510882.1 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 NA NA integral component of membrane (GO:0016021) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) CAAGGTTAAGGTCAGTGTGGT 0.269 NA NA G||| 44 0.00878594 0 0.0231 5008 , , NA 16361 0.001 NA 0.0249 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF353991 CCDS6111.1, CCDS43733.1 8p11.23 2005-08-09 ENSG00000169490 83877 24127 protein-coding gene gene with protein product 610081 NA 11278849 Standard NM_031940 XM_005273657 NA Approved BLP1 uc003xmk.3 Q9BX73 ENST00000456397.2:c.*1292C>A chr8.hg19:g.38847559G>T NA B2RBK4|D3DSX8|Q8N0X9 hg19 CCDS6111.1 0.02 1.669232 AAGxTCA COVERED NOVEL TM2D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377280.1 6 17.758241 KEEP 0 0 0 59 2105 GG 1 0.999407 0 - 5 60 156 0 0 9.899789 74 60 2561 213 ENST00000456397.2 0.063291 0.999407 ADAM18 8749 __UNKNOWN__ __UNKNOWN__ 8 39466964 39466964 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:39466964C>T ENST00000265707.5 + 5 312 ADAM18_ENST00000379866.1_Intron|ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Intron NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|membrane (GO:0016020) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTTTTATTCACAACGAATTTA 0.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 60 57 58 NA NA 8 NA 39466964 2202 4297 6499 SO:0001627 intron_variant AJ133004 CCDS6113.1, CCDS55225.1 8p11.22 2008-08-07 2005-08-18 ENSG00000168619 ENSG00000168619 8749 ADAM metallopeptidase domain containing 196 protein-coding gene gene with protein product NA a disintegrin and metalloproteinase domain 18 NA 12200459 Standard NM_014237 NM_014237 NA Approved tMDCIII, ADAM27 uc003xni.3 Q9Y3Q7 OTTHUMG00000164040 ENST00000265707.5:c.268-40C>T chr8.hg19:g.39466964C>T NA B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9 hg19 CCDS6113.1 0.02 -0.306992 TCAxAAC COVERED NOVEL ADAM18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376916.1 0 5.417716 KEEP 0 0 0 18 640 CC 0.999859 0.800133 0 + 4 60 100 1 0 6.57134 30 60 1029 75 ENST00000265707.5 0.117647 0.800245 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52732273 52732273 __UNKNOWN__ 3'UTR SNP G G A rs74621248 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:52732273G>A ENST00000360540.5 - 0 2118 PCMTD1_ENST00000544451.1_3'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 NA NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) CTATGAGAGAGGCAGATATTT 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.*638C>T chr8.hg19:g.52732273G>A NA Q96FK9 hg19 CCDS6148.1 0.02 -0.394772 AGAxGCA COVERED NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 1 3.948144 KEEP 0 1 34 25 849 GG 0.999957 0.9266 0 - 4 46 128 0 0 8.931919 39 60 1370 94 ENST00000360540.5 0.093023 0.92664 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52732287 52732287 __UNKNOWN__ 3'UTR SNP C C T rs75854138 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:52732287C>T ENST00000360540.5 - 0 2104 PCMTD1_ENST00000544451.1_3'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 NA NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GATATTTTACCCATGTCTTTT 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.*624G>A chr8.hg19:g.52732287C>T NA Q96FK9 hg19 CCDS6148.1 0.02 -0.324596 TACxCAT COVERED NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 1 2.543611 KEEP 0 1 33 20 702 CC 0.999869 0.835607 0 - 3 46 95 0 0 6.487564 32 60 1134 76 ENST00000360540.5 0.085714 0.835716 XKR4 114786 __UNKNOWN__ __UNKNOWN__ 8 56437178 56437178 __UNKNOWN__ 3'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:56437178A>C ENST00000327381.6 + 0 2445 NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TACACACACTAACACACATAA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY534241 CCDS34893.1 8q12.1 2006-01-12 2006-01-12 ENSG00000206579 ENSG00000206579 114786 29394 protein-coding gene gene with protein product NA X Kell blood group precursor-related family, member 4 NA Standard NM_052898 NM_052898 NA Approved KIAA1889 uc003xsf.3 Q5GH76 OTTHUMG00000164288 ENST00000327381.6:c.*392A>C chr8.hg19:g.56437178A>C NA Q96PZ8 hg19 CCDS34893.1 0.02 -0.429531 ACTxACA COVERED NOVEL XKR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378129.2 9 5.347351 KEEP 0 1 35 30 881 AA 0.999997 0.954489 0 + 3 60 104 0 0 7.047611 42 60 1206 108 ENST00000327381.6 0.066667 0.954491 LYN 4067 __UNKNOWN__ __UNKNOWN__ 8 56910928 56910928 __UNKNOWN__ Silent SNP C C T rs2227978 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:56910928C>T ENST00000519728.1 + 11 1370 c.1074C>T c.(1072-1074)atC>atT p.I358I LYN_ENST00000520220.2_Silent_p.I337I|LYN_ENST00000420292.1_3'UTR NM_002350.3 NP_002341.1 P07948 LYN_HUMAN LYN proto-oncogene, Src family tyrosine kinase 358 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) Bosutinib(DB06616)|Ponatinib(DB08901) TGGCATACATCGAGCGGAAGA 0.463 NA NA C||| 172 0.034345 0.118 0.0216 5008 , , NA 17883 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 C , 413,3993 202.5+/-225.2 18,377,1808 101 97 98 1011,1074 -3.7 1 8 dbSNP_116 98 7,8593 5.0+/-18.6 0,7,4293 no coding-synonymous,coding-synonymous LYN NM_001111097.2,NM_002350.3 , 18,384,6101 TT,TC,CC 0.0814,9.3736,3.2293 , 337/492,358/513 56910928 420,12586 2203 4300 6503 SO:0001819 synonymous_variant M16038 CCDS6162.1, CCDS47859.1 8q13 2014-06-25 2014-06-25 ENSG00000254087 ENSG00000254087 4067 SH2 domain containing 6735 protein-coding gene gene with protein product 165120 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog NA 3561390 Standard NM_002350 NM_002350 NA Approved JTK8 uc003xsk.4 P07948 OTTHUMG00000044345 ENST00000519728.1:c.1074C>T chr8.hg19:g.56910928C>T NA A0AVQ5 hg19 CCDS6162.1 0.02 -0.429783 CATxGAG COVERED NOVEL LYN-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378155.1 2 7.523957 KEEP 0 0 0 25 837 CC 0.999931 0.954425 0 + 4 60 104 0 0 6.309643 45 60 1467 99 ENST00000519728.1 0.081633 0.954491 ARFGEF1 10565 __UNKNOWN__ __UNKNOWN__ 8 68200271 68200271 __UNKNOWN__ Missense_Mutation SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:68200271C>T ENST00000262215.3 - 7 1335 c.946G>A c.(946-948)Gga>Aga p.G316R NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 316 NA G -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}. endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TGGTTTTCTCCGTCATATAAC 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 194 186 189 NA NA 8 NA 68200271 2202 4300 6502 SO:0001583 missense AF084520 CCDS6199.1 8q13 2011-08-18 2011-08-18 ENSG00000066777 ENSG00000066777 10565 15772 protein-coding gene gene with protein product 604141 NA 10212200, 8917509 Standard NM_006421 NM_006421 NA Approved DKFZP434L057, BIG1, ARFGEP1, p200 uc003xxo.2 Q9Y6D6 OTTHUMG00000164626 ENST00000262215.3:c.946G>A chr8.hg19:g.68200271C>T ENSP00000262215:p.Gly316Arg NA Q9NV46|Q9UFV2|Q9UNL0 hg19 CCDS6199.1 0.02 1.429717 CTCxGTC COVERED . . . . . . . . . . C 16.88 3.244567 0.59103 . . ENSG00000066777 ENST00000262215 T 0.18960 2.18 5.39 5.39 0.77823 Armadillo-type fold (1); 0.132011 0.52532 D 0.000071 T 0.19685 0.0473 L 0.38175 1.15 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.06006 -1.0851 10 0.17832 T 0.49 . 19.5127 0.95148 0.0:1.0:0.0:0.0 . 316 Q9Y6D6 BIG1_HUMAN R 316 ENSP00000262215:G316R ENSP00000262215:G316R G - 1 0 ARFGEF1 68362825 1.000000 0.71417 1.000000 0.80357 0.822000 0.46500 3.952000 0.56691 2.688000 0.91661 0.460000 0.39030 GGA NOVEL ARFGEF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379441.4 2 11.436016 KEEP 0 0 0 38 1285 CC 1 0.992926 0 - 4 60 125 0 0 7.91602 60 60 1996 156 ENST00000262215.3 0.0625 0.992926 XKR9 389668 __UNKNOWN__ __UNKNOWN__ 8 71646275 71646275 __UNKNOWN__ Silent SNP A A T rs72667746 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:71646275A>T ENST00000408926.3 + 5 1272 c.738A>T c.(736-738)gcA>gcT p.A246A XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Silent_p.A246A NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 246 NA integral component of membrane (GO:0016021) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TAATATGGGCATTTAAAAACA 0.279 NA NA A||| 33 0.00658946 0 0.0072 5008 , , NA 16473 0.001 NA 0.0229 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 A 23,4379 29.0+/-57.7 0,23,2178 145 143 144 738 1.1 1 8 dbSNP_130 144 204,8392 86.3+/-148.7 1,202,4095 no coding-synonymous XKR9 NM_001011720.1 1,225,6273 TT,TA,AA 2.3732,0.5225,1.7464 246/374 71646275 227,12771 2201 4298 6499 SO:0001819 synonymous_variant AY534247 CCDS34905.1 8q13.3 2006-01-12 2006-01-12 ENSG00000221947 389668 20937 protein-coding gene gene with protein product NA X Kell blood group precursor-related family, member 9 NA Standard NM_001011720 NM_001287258 NA Approved uc003xyq.3 Q5GH70 ENST00000408926.3:c.738A>T chr8.hg19:g.71646275A>T NA B2RNS9|B9EH74 hg19 CCDS34905.1 0.02 -0.263073 GGCxTTT COVERED NOVEL XKR9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378752.1 4 2.70749 KEEP 0 0 0 9 267 AA 0.99254 0.688494 0 + 4 60 125 0 0 9.295029 26 60 749 45 ENST00000408926.3 0.133333 0.693668 SBSPON 157869 __UNKNOWN__ __UNKNOWN__ 8 73977251 73977251 __UNKNOWN__ 3'UTR SNP C C G rs55643044 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:73977251C>G ENST00000297354.6 - 0 3324 NM_153225.3 NP_694957.3 Q8IVN8 SBSPO_HUMAN somatomedin B and thrombospondin, type 1 domain containing NA NA immune response (GO:0006955) proteinaceous extracellular matrix (GO:0005578) polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044) NA AAAATAAAAACTTTTGGTTTT 0.318 NA NA C||| 32 0.00638978 8e-04 0.0072 5008 , , NA 14897 0 NA 0.0229 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43747.2 8q21.11 2013-08-07 2012-05-15 2012-05-15 ENSG00000164764 ENSG00000164764 157869 30362 protein-coding gene gene with protein product RPE spondin, rpe-spondin NA chromosome 8 open reading frame 84 C8orf84 NA 12107410 Standard NM_153225 NM_153225 NA Approved RPESP uc003xzf.3 Q8IVN8 OTTHUMG00000157144 ENST00000297354.6:c.*2325G>C chr8.hg19:g.73977251C>G NA A8KAA5|Q96J64 hg19 CCDS43747.2 0.02 -0.298237 AAAxTTT COVERED NOVEL SBSPON-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347584.2 2 5.116511 KEEP 0 0 0 17 595 CC 0.999366 0.799738 0 - 3 60 111 1 0 8.125655 31 60 1042 64 ENST00000297354.6 0.088235 0.800245 RDH10 157506 __UNKNOWN__ __UNKNOWN__ 8 74234187 74234187 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:74234187C>G ENST00000240285.5 + 5 1448 RDH10_ENST00000519380.1_Intron|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) NA NA bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) ATGTGTGTGTCTGTGTGAACA 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF456765 CCDS6213.1 8q21.11 2011-09-20 ENSG00000121039 ENSG00000121039 157506 1.1.1.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 19975 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 16C, member 4 607599 NA 12407145, 19027726 Standard NM_172037 NA Approved SDR16C4 uc003xzi.3 Q8IZV5 OTTHUMG00000164492 ENST00000240285.5:c.771-727C>G chr8.hg19:g.74234187C>G NA hg19 CCDS6213.1 0.02 3.601666 TGTxTGT COVERED NOVEL RDH10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378982.1 31 8.437548 KEEP 0 3 112 67 2400 CC 1 1 0 + 5 60 175 0 0 10.721414 123 60 4257 300 ENST00000240285.5 0.039062 1 RP11-463D19.2 0 __UNKNOWN__ __UNKNOWN__ 8 74701814 74701814 __UNKNOWN__ Intron SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:74701814G>C ENST00000358757.5 - 5 474 UBE2W_ENST00000517608.1_3'UTR|UBE2W_ENST00000453587.2_Intron NA NA NA ggtgtggtgggtcatgcctgt 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000358757.5:c.442+16071C>G chr8.hg19:g.74701814G>C NA hg19 0.02 3.930247 TGGxTCA COVERED NOVEL RP11-463D19.2-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000413292.2 41 5.564752 KEEP 0 7 257 108 3804 GG 1 1 0 - 5 60 170 0 0 10.275942 120 60 4229 376 ENST00000358757.5 0.04 1 RP11-463D19.2 0 __UNKNOWN__ __UNKNOWN__ 8 74701829 74701829 __UNKNOWN__ Intron SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:74701829G>C ENST00000358757.5 - 5 474 UBE2W_ENST00000517608.1_3'UTR|UBE2W_ENST00000453587.2_Intron NA NA NA gcctgtaatcgcagcactttg 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000358757.5:c.442+16056C>G chr8.hg19:g.74701829G>C NA hg19 0.02 4.158638 ATCxCAG COVERED NOVEL RP11-463D19.2-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000413292.2 28 3.900854 KEEP 0 6 212 87 2923 GG 1 0.999998 0 - 6 60 204 0 0 13.492431 91 60 3173 298 ENST00000358757.5 0.061856 0.999998 PEX2 5828 __UNKNOWN__ __UNKNOWN__ 8 77894535 77894535 __UNKNOWN__ 3'UTR SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:77894535C>A ENST00000419564.2 - 0 2344 PEX2_ENST00000357039.4_3'UTR NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 NA NA bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038) Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778) zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 TTCAATAAAACTATCAATATT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M86852 CCDS6221.1 8q21.11 2010-02-09 2010-01-25 2010-01-25 ENSG00000164751 5828 RING-type (C3HC4) zinc fingers 9717 protein-coding gene gene with protein product Zellweger syndrome, peroxin 2 170993 peroxisomal membrane protein 3 (35kD, Zellweger syndrome), peroxisomal membrane protein 3, 35kDa PXMP3 NA 1546315, 8858157 Standard NM_000318 NM_000318 NA Approved PMP35, PAF-1, RNF72, ZWS3 uc022awf.1 P28328 ENST00000419564.2:c.*962G>T chr8.hg19:g.77894535C>A NA Q567S6|Q9BW41 hg19 CCDS6221.1 0.02 1.724653 AAAxTAT COVERED NOVEL PEX2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379122.1 2 4.047827 KEEP 0 1 30 24 860 CC 0.999931 0.970753 0 - 8 60 233 0 0 17.42665 44 60 1513 105 ENST00000419564.2 0.153846 0.97082 TPD52 7163 __UNKNOWN__ __UNKNOWN__ 8 80948795 80948795 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:80948795T>C ENST00000379096.5 - 0 2225 TPD52_ENST00000518937.1_3'UTR|TPD52_ENST00000537855.1_Intron NM_005079.2 NP_005070.1 P55327 TPD52_HUMAN tumor protein D52 NA NA anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TCCAGACCACTGGTCTCATAA 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U18914 CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1 8q21.13 2014-06-24 ENSG00000076554 ENSG00000076554 7163 12005 protein-coding gene gene with protein product 604068 NA 7796418 Standard NM_005079 NM_001287144 NA Approved D52, hD52, N8L uc003ybr.1 P55327 OTTHUMG00000164565 ENST00000379096.5:c.*1556A>G chr8.hg19:g.80948795T>C NA B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8 hg19 CCDS55249.1 0.02 2.12313 CACxGGT COVERED NOVEL TPD52-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379380.2 4 11.432723 KEEP 0 0 0 38 1183 TT 1 0.97082 0 - 5 70 176 0 0 12.795971 48 60 1457 135 ENST00000379096.5 0.09434 0.97082 PMP2 5375 __UNKNOWN__ __UNKNOWN__ 8 82355621 82355621 __UNKNOWN__ 3'UTR SNP A A G rs6473276 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:82355621A>G ENST00000519260.1 - 0 290 PMP2_ENST00000256103.2_3'UTR|RP11-157I4.4_ENST00000524085.2_RNA P02689 MYP2_HUMAN peripheral myelin protein 2 NA NA membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) ACTTCAATGAAGAAATGATTT 0.323 NA NA G||| 2691 0.53734 0.7564 0.4611 5008 , , NA 15310 0.748 NA 0.3121 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 G 3064,1340 446.1+/-347.9 1068,928,206 90 90 90 -1.6 0 8 dbSNP_116 90 2875,5717 668.7+/-402.6 477,1921,1898 no utr-3 PMP2 NM_002677.3 1545,2849,2104 GG,GA,AA 33.4614,30.4269,45.6987 82355621 5939,7057 2202 4296 6498 SO:0001624 3_prime_UTR_variant X62167 CCDS6229.1 8q21.3-q22.1 2013-03-01 ENSG00000147588 ENSG00000147588 5375 Fatty acid binding protein family 9117 protein-coding gene gene with protein product 170715 NA 1720307, 8288226 Standard NM_002677 NM_002677 NA Approved MP2, FABP8, M-FABP uc003ycb.1 P02689 OTTHUMG00000164600 ENST00000519260.1:c.*55T>C chr8.hg19:g.82355621A>G NA Q6FHL4 hg19 0.02 1.58731 TGAxGAA COVERED NOVEL PMP2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379366.1 8 15.947695 KEEP 0 0 0 53 1684 AA 1 0.999218 0 - 4 60 131 0 0 8.140012 75 60 2350 185 ENST00000519260.1 0.050633 0.999218 SNX16 64089 __UNKNOWN__ __UNKNOWN__ 8 82712153 82712153 __UNKNOWN__ 3'UTR SNP A A G rs1054078 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:82712153A>G ENST00000353788.4 - 0 2694 RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000396330.2_3'UTR NM_152837.2 NP_690050.1 P57768 SNX16_HUMAN sorting nexin 16 NA NA early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622) early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764) identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091) large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 AGATCAATTTATTATATTCAT 0.269 NA NA G||| 3098 0.61861 0.6793 0.611 5008 , , NA 13912 0.4028 NA 0.673 False NA ,,, NA NA NA 2504 0.7086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF305779 CCDS6234.1, CCDS6235.1 8q21.13 2011-05-03 ENSG00000104497 ENSG00000104497 64089 Sorting nexins 14980 protein-coding gene gene with protein product 614903 NA 12461558, 12813048 Standard NM_022133 NM_152837 NA Approved uc003ycn.3 P57768 OTTHUMG00000164727 ENST00000353788.4:c.*1579T>C chr8.hg19:g.82712153A>G NA A8K4D8|Q658L0|Q8N4U3 hg19 CCDS6235.1 0.02 -0.28066 TTTxTTA COVERED NOVEL SNX16-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000379928.1 3 5.71614 KEEP 0 0 0 19 563 AA 0.99986 0.739568 0 - 4 60 129 0 0 9.633733 27 60 816 72 ENST00000353788.4 0.129032 0.739671 ATP6V0D2 245972 __UNKNOWN__ __UNKNOWN__ 8 87165854 87165854 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:87165854T>C ENST00000285393.3 + 0 1843 CTD-3118D11.2_ENST00000524253.1_RNA|CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) hydrogen ion transmembrane transporter activity (GO:0015078) breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 tcccaaagtgttgggattaca 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY079172 CCDS6241.1 8q21.3 2014-01-28 2006-01-20 2002-05-24 ENSG00000147614 ENSG00000147614 245972 ATPases / V-type 18266 protein-coding gene gene with protein product NA ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2, ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2, ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2 NA 12384298 Standard NM_152565 NM_152565 NA Approved FLJ38708, VMA6, ATP6D2 uc003ydp.1 Q8N8Y2 OTTHUMG00000163637 ENST00000285393.3:c.*648T>C chr8.hg19:g.87165854T>C NA hg19 CCDS6241.1 0.02 4.138888 GTGxTGG COVERED NOVEL ATP6V0D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374651.1 18 2.275592 KEEP 0 5 173 68 2028 TT 1 1 0 + 5 60 176 1 0 10.826998 123 60 3742 288 ENST00000285393.3 0.039062 1 RUNX1T1 862 __UNKNOWN__ __UNKNOWN__ 8 92967743 92967743 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:92967743T>A ENST00000523629.1 - 0 6996 NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) NA NA fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351) nuclear matrix (GO:0016363) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGGTGTGCACTACCAAATTCT 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D43638 CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1 8q22 2007-01-29 2005-01-20 2005-01-22 ENSG00000079102 ENSG00000079102 862 Zinc fingers, MYND-type 1535 protein-coding gene gene with protein product 133435 core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related AML1T1, CBFA2T1 NA 1391946, 9790752 Standard NM_004349, NM_175635 NM_004349 NA Approved CDR, ETO, MTG8, ZMYND2 uc011lgi.2 Q06455 OTTHUMG00000164066 ENST00000523629.1:c.*4727A>T chr8.hg19:g.92967743T>A NA B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0 hg19 CCDS6256.1 0.02 1.493891 CACxACC COVERED NOVEL RUNX1T1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000377045.3 1 3.642993 KEEP 0 1 31 23 672 TT 0.999909 0.995596 0 - 11 60 334 0 0 25.739147 55 70 1619 120 ENST00000523629.1 0.166667 0.995687 MTDH 92140 __UNKNOWN__ __UNKNOWN__ 8 98739298 98739298 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:98739298C>T ENST00000336273.3 + 0 4477 NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin NA NA lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923) double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) aaggagactccgtctcaaaaa 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF411226 CCDS6274.1 8q22.1 2014-07-14 ENSG00000147649 ENSG00000147649 92140 29608 protein-coding gene gene with protein product astrocyte elevated gene 1 610323 NA 15093543 Standard NM_178812 NA Approved LYRIC, 3D3, AEG-1 uc003yhz.3 Q86UE4 OTTHUMG00000164692 ENST00000336273.3:c.*2400C>T chr8.hg19:g.98739298C>T NA Q05DH2|Q52QU9|Q6PK07|Q8TCX3 hg19 CCDS6274.1 0.02 -0.324559 CTCxGTC COVERED NOVEL MTDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379772.2 9 5.417492 KEEP 1 0 0 18 621 CC 0.999366 0.835186 0 + 3 60 91 2 0 6.443337 24 60 795 80 ENST00000336273.3 0.111111 0.835716 SNX31 169166 __UNKNOWN__ __UNKNOWN__ 8 101586133 101586133 __UNKNOWN__ Missense_Mutation SNP T T C rs2022923 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:101586133T>C ENST00000311812.2 - 14 1433 c.1283A>G c.(1282-1284)gAt>gGt p.D428G SNX31_ENST00000428383.2_Missense_Mutation_p.D329G NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 428 NA D -> G (in dbSNP:rs2022923). {ECO:0000269|PubMed:15489334}. protein transport (GO:0015031) protein complex (GO:0043234) phosphatidylinositol binding (GO:0035091) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) AACGCAGTCATCTTTAGCTAT 0.343 NA NA T||| 2063 0.411941 0.5514 0.3689 5008 , , NA 19008 0.2778 NA 0.4364 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 T GLY/ASP 2346,2058 605.4+/-390.5 623,1100,479 128 127 127 1283 -11 0 8 dbSNP_94 127 3688,4908 527.2+/-381.1 783,2122,1393 yes missense SNX31 NM_152628.3 94 1406,3222,1872 CC,CT,TT 42.9037,46.7302,46.4154 benign 428/441 101586133 6034,6966 2202 4298 6500 SO:0001583 missense CCDS6288.1 8q22.3 2011-05-03 ENSG00000174226 ENSG00000174226 169166 Sorting nexins 28605 protein-coding gene gene with protein product NA NA 16782399 Standard NM_152628 NM_152628 NA Approved MGC39715 uc003yjr.3 Q8N9S9 OTTHUMG00000164725 ENST00000311812.2:c.1283A>G chr8.hg19:g.101586133T>C ENSP00000312368:p.Asp428Gly NA C9J6L9|Q8N0U9 hg19 CCDS6288.1 0.02 1.81941 TCAxCTT COVERED 942|942 0.43131868131868134|0.43131868131868134 304|304 0.6178861788617886|0.6178861788617886 140|140 0.3867403314917127|0.3867403314917127 158|158 0.2762237762237762|0.2762237762237762 340|340 0.44854881266490765|0.44854881266490765 T|T 7.650|7.650 0.682808|0.682808 0.14907|0.14907 0.532698|0.532698 0.429037|0.429037 ENSG00000174226|ENSG00000174226 ENST00000311812;ENST00000428383|ENST00000518342 T;T|. 0.23348|. 2.24;1.91|. 5.51|5.51 -11.0|-11.0 0.00169|0.00169 .|. 1.819920|. 0.02970|. N|. 0.144295|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.02011|0.02011 -0.69|-0.69 0.80722|0.80722 P|P 0.0|0.0 B;B|. 0.02656|. 0.0;0.0|. B;B|. 0.04013|. 0.001;0.0|. T|T 0.36212|0.36212 -0.9757|-0.9757 9|4 0.11794|. T|. 0.64|. 6.6358|6.6358 3.7682|3.7682 0.08630|0.08630 0.1019:0.3636:0.3892:0.1454|0.1019:0.3636:0.3892:0.1454 rs2022923;rs17845950;rs17858931;rs52797088;rs60518312;rs2022923|rs2022923;rs17845950;rs17858931;rs52797088;rs60518312;rs2022923 329;428|. Q8N9S9-2;Q8N9S9|. .;SNX31_HUMAN|. G|V 428;329|36 ENSP00000312368:D428G;ENSP00000405024:D329G|. ENSP00000312368:D428G|. D|M -|- 2|1 0|0 SNX31|SNX31 101655309|101655309 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.851000|0.851000 0.48451|0.48451 -0.575000|-0.575000 0.05861|0.05861 -2.690000|-2.690000 0.00404|0.00404 -0.472000|-0.472000 0.04984|0.04984 GAT|ATG NOVEL SNX31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379910.1 7 20.761496 KEEP 0 0 0 69 2184 TT 1 0.999956 0 - 5 60 171 0 0 10.915279 93 60 2932 237 ENST00000311812.2 0.05102 0.999956 DCAF13 25879 __UNKNOWN__ __UNKNOWN__ 8 104432545 104432545 __UNKNOWN__ Missense_Mutation SNP A A G rs3134253 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:104432545A>G ENST00000297579.5 + 2 857 c.580A>G c.(580-582)Ata>Gta p.I194V DCAF13_ENST00000521716.1_Missense_Mutation_p.I38V|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521971.1_Missense_Mutation_p.I38V|DCAF13_ENST00000519682.1_Missense_Mutation_p.I38V NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 42 NA protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 ACGAGAATATATAAGAGCTTT 0.383 NA NA G||| 1269 0.253395 0.202 0.268 5008 , , NA 19647 0.3313 NA 0.2316 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 G VAL/ILE 964,3442 734.4+/-410.6 104,756,1343 98 92 94 580 -0.4 0.3 8 dbSNP_103 94 1830,6770 731.0+/-406.8 191,1448,2661 no missense DCAF13 NM_015420.6 29 295,2204,4004 GG,GA,AA 21.2791,21.8793,21.4824 benign 194/598 104432545 2794,10212 2203 4300 6503 SO:0001583 missense AK074725 CCDS34934.1 8q22.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000164934 ENSG00000164934 25879 WD repeat domain containing, DDB1 and CUL4 associated factors 24535 protein-coding gene gene with protein product NA WD repeats and SOF1 domain containing WDSOF1 NA 11042152 Standard NM_015420 NM_015420 NA Approved DKFZP564O0463, Gm83, HSPC064 uc003yln.3 Q9NV06 OTTHUMG00000164888 ENST00000297579.5:c.580A>G chr8.hg19:g.104432545A>G ENSP00000297579:p.Ile194Val NA Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3 hg19 CCDS34934.1 0.02 1.681352 TATxTAA COVERED 577 0.2641941391941392 106 0.21544715447154472 93 0.2569060773480663 196 0.34265734265734266 182 0.24010554089709762 G 7.825 0.718601 0.15372 0.218793 0.212791 ENSG00000164934 ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682 T;T;T;T 0.01252 5.1;5.1;5.1;5.1 5.26 -0.374 0.12512 . 0.522492 0.21591 N 0.072093 T 0.00012 0.0000 N 0.00046 -2.44 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.21211 -1.0252 9 0.10902 T 0.67 -5.3123 11.2365 0.48944 0.6324:0.0:0.3676:0.0 rs3134253;rs52822106;rs3134253 42 B3KME9 . V 194;38;38;42;38 ENSP00000297579:I194V;ENSP00000430645:I38V;ENSP00000430883:I38V;ENSP00000430411:I38V ENSP00000297579:I194V I + 1 0 DCAF13 104501721 0.000000 0.05858 0.294000 0.24946 0.994000 0.84299 0.477000 0.22196 -0.208000 0.10171 -0.119000 0.15052 ATA NOVEL DCAF13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380797.2 4 15.34341 KEEP 0 0 0 51 1545 AA 1 0.999881 0 + 4 60 144 0 0 9.185558 87 60 2586 211 ENST00000297579.5 0.043956 0.999881 RIMS2 9699 __UNKNOWN__ __UNKNOWN__ 8 105026801 105026801 __UNKNOWN__ Nonsense_Mutation SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:105026801C>T ENST00000436393.2 + 17 2753 c.2512C>T c.(2512-2514)Cga>Tga p.R838* RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R912*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R1098*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R937* Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1160 C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}. NA calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157) cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786) metal ion binding (GO:0046872) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ACGAAGGGGCCGACAGCTTCC 0.443 NA NA HNSCC(12;0.0054) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 73 78 77 NA NA 8 NA 105026801 1925 4114 6039 SO:0001587 stop_gained AB018294 CCDS43761.1, CCDS64948.1, CCDS64949.1 8q22.3 2008-08-08 2002-06-12 2002-06-14 9699 17283 protein-coding gene gene with protein product 606630 RAB3 interacting protein 3 RAB3IP3 NA 9872452, 12578829 Standard NM_001100117 NM_014677 NA Approved KIAA0751, RIM2, OBOE uc003ylp.3 Q9UQ26 ENST00000436393.2:c.2512C>T chr8.hg19:g.105026801C>T ENSP00000390665:p.Arg838* NA B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1 hg19 0.02 -0.342013 GGCxGAC COVERED . . . . . . . . . . C 37 6.340723 0.97489 . . ENSG00000176406 ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393 . . . 5.63 4.75 0.60458 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 13.9771 0.64279 0.3302:0.6698:0.0:0.0 . . . . X 1098;1135;1098;1160;937;912;912;838 . ENSP00000262231:R937X R + 1 2 RIMS2 105095977 0.998000 0.40836 1.000000 0.80357 0.998000 0.95712 3.472000 0.53114 1.362000 0.46000 0.591000 0.81541 CGA NOVEL RIMS2-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367217.1 0 3.310086 KEEP 0 0 0 11 353 CC 0.993072 0.859748 0 + 3 60 95 0 0 6.34154 36 60 1238 74 ENST00000436393.2 0.076923 0.865745 OXR1 55074 __UNKNOWN__ __UNKNOWN__ 8 107694775 107694775 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:107694775T>C ENST00000312046.6 + 3 415 OXR1_ENST00000452423.2_Intron|OXR1_ENST00000442977.2_Intron|OXR1_ENST00000531443.1_Intron|OXR1_ENST00000517566.2_Intron|OXR1_ENST00000497705.1_Intron|OXR1_ENST00000445937.1_Intron NM_181354.4 NP_851999.2 Q8N573 OXR1_HUMAN oxidation resistance 1 NA NA adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979) mitochondrion (GO:0005739)|nucleolus (GO:0005730) oxidoreductase activity (GO:0016491) NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) ggattacaggtgtgagccacc 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF309387 CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1 8q23 2013-03-14 ENSG00000164830 ENSG00000164830 55074 15822 protein-coding gene gene with protein product TBC/LysM-associated domain containing 3 605609 NA 11114193 Standard NM_181354 NM_181354 NA Approved TLDC3 uc011lht.2 Q8N573 OTTHUMG00000167682 ENST00000312046.6:c.283-652T>C chr8.hg19:g.107694775T>C NA A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7 hg19 CCDS6304.2 0.02 5.950787 AGGxGTG COVERED NOVEL OXR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343925.2 35 9.000952 KEEP 2 7 217 106 3074 TT 1 1 0 + 7 60 238 0 0 14.607579 156 60 4578 447 ENST00000312046.6 0.042945 1 SQLE 6713 __UNKNOWN__ __UNKNOWN__ 8 126033195 126033195 __UNKNOWN__ Intron SNP T T C rs9297709 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:126033195T>C ENST00000265896.5 + 10 2430 SQLE_ENST00000523430.1_Intron NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase NA NA cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) CAAATCTTTCTTCCTTACACA 0.368 NA NA T||| 1173 0.234225 0.1293 0.3818 5008 , , NA 16698 0.2917 NA 0.175 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D78130 CCDS47918.1 8q24.1 2014-06-23 ENSG00000104549 ENSG00000104549 6713 1.14.13.132 11279 protein-coding gene gene with protein product squalene monooxygenase 602019 NA 9286711 Standard NM_003129 NM_003129 NA Approved uc011liq.2 Q14534 OTTHUMG00000164990 ENST00000265896.5:c.1532+82T>C chr8.hg19:g.126033195T>C NA Q9UEK6 hg19 CCDS47918.1 0.02 4.081761 TTCxTCC COVERED NOVEL SQLE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381362.1 9 24.375587 KEEP 0 0 0 81 2620 TT 1 0.999973 0 + 6 60 206 0 0 13.611119 94 60 3017 270 ENST00000265896.5 0.06 0.999973 LY6K 54742 __UNKNOWN__ __UNKNOWN__ 8 143784500 143784500 __UNKNOWN__ 3'UTR SNP T T G rs2244163 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:143784500T>G ENST00000519390.1 + 0 354 CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000292430.6_Intron|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000561179.1_Intron|LY6K_ENST00000519387.1_Intron Q17RY6 LY6K_HUMAN lymphocyte antigen 6 complex, locus K NA NA anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4) 10 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GGTCTTTATTTCCTATTAGAA 0.527 NA NA T||| 1964 0.392173 0.4191 0.4294 5008 , , NA 20707 0.3046 NA 0.4553 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 T ,, 1758,2648 519.0+/-369.9 355,1048,800 43 41 42 ,, 3 0 8 dbSNP_100 42 3921,4679 542.4+/-384.2 884,2153,1263 no utr-3,intron,intron LY6K NM_001160354.1,NM_001160355.1,NM_017527.3 ,, 1239,3201,2063 GG,GT,TT 45.593,39.9001,43.6645 ,, ,, 143784500 5679,7327 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK092545 CCDS6385.1, CCDS6385.2, CCDS59114.1 8q24.3 2009-08-06 ENSG00000160886 54742 24225 protein-coding gene gene with protein product cancer/testis antigen 97 615093 NA 12516096 Standard NM_017527 NM_017527 NA Approved HSJ001348, FLJ35226, CT97 uc011ljv.2 Q17RY6 ENST00000519390.1:c.*351T>G chr8.hg19:g.143784500T>G NA G3V116|O15227|Q9BVD7 hg19 0.02 5.64326 ATTxCCT COVERED NOVEL LY6K-005 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000379958.1 7 29.617599 KEEP 0 1 18 105 3188 TT 1 1 0 + 6 60 207 0 0 12.104831 177 60 5251 391 ENST00000519390.1 0.032787 1 KIAA1875 340390 __UNKNOWN__ __UNKNOWN__ 8 145171406 145171406 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:145171406C>T ENST00000323662.8 + 0 5104 A6NE52 K1875_HUMAN KIAA1875 NA NA large_intestine(1) 1 AGGTGGCCATCGTGGGCACCA 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058778 8q24.3 2013-01-10 ENSG00000179698 ENSG00000179698 340390 WD repeat domain containing 26959 protein-coding gene gene with protein product NA NA 11347906 Standard NM_032529 NR_024207 NA Approved uc011lky.1 A6NE52 OTTHUMG00000165245 ENST00000323662.8:c.*210C>T chr8.hg19:g.145171406C>T NA Q96JF2 hg19 0.02 2.181949 CATxGTG COVERED NOVEL KIAA1875-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000382917.1 2 22.403825 KEEP 0 1 30 85 2796 CC 1 1 0 + 6 60 175 0 0 9.46284 143 60 4655 325 ENST00000323662.8 0.040268 1 HSF1 3297 __UNKNOWN__ __UNKNOWN__ 8 145534931 145534931 __UNKNOWN__ Missense_Mutation SNP A A G rs140885087 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:145534931A>G ENST00000400780.4 + 4 444 c.365A>G c.(364-366)aAc>aGc p.N122S HSF1_ENST00000528838.1_Missense_Mutation_p.N187S Q00613 HSF1_HUMAN heat shock transcription factor 1 187 NA cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) AAAGTCGTCAACAAGGTGGGG 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 A SER/ASN 0,4404 0,0,2202 23 27 25 560 5.3 1 8 dbSNP_134 25 1,8591 0,1,4295 no missense HSF1 NM_005526.2 46 0,1,6497 GG,GA,AA 0.0116,0.0,0.0077 possibly-damaging 187/530 145534931 1,12995 2202 4296 6498 SO:0001583 missense M64673 CCDS6419.1 8q24.3 2014-04-10 ENSG00000185122 ENSG00000185122 3297 5224 protein-coding gene gene with protein product 140580 NA 1871105 Standard NM_005526 NM_005526 NA Approved HSTF1 uc003zbt.4 Q00613 OTTHUMG00000174604 ENST00000400780.4:c.365A>G chr8.hg19:g.145534931A>G ENSP00000383590:p.Asn122Ser NA A8K4L0|A8MW26|Q53XT4 hg19 0.02 8.14089 TCAxCAA COVERED . . . . . . . . . . A 18.13 3.554935 0.65425 0.0 1.16E-4 ENSG00000185122 ENST00000528838;ENST00000533240;ENST00000400780 . . . 5.32 5.32 0.75619 . 0.101764 0.64402 D 0.000005 T 0.52468 0.1736 L 0.61387 1.9 0.49130 D 0.999752 P 0.41188 0.741 B 0.34242 0.178 T 0.59600 -0.7424 9 0.54805 T 0.06 -21.2779 13.5274 0.61603 1.0:0.0:0.0:0.0 . 187 Q00613 HSF1_HUMAN S 187;122;122 . ENSP00000383590:N122S N + 2 0 HSF1 145505739 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 4.124000 0.57924 2.129000 0.65627 0.533000 0.62120 AAC NOVEL HSF1-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000382056.1 11 4.692268 KEEP 0 11 370 145 4438 AA 1 1 0 + 15 60 520 0 0 35.480083 202 70 6020 526 ENST00000400780.4 0.069124 1 ZNF7 7553 __UNKNOWN__ __UNKNOWN__ 8 146068719 146068719 __UNKNOWN__ 3'UTR SNP C C A rs186468249 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:146068719C>A ENST00000528372.1 + 0 2467 ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron P17097 ZNF7_HUMAN zinc finger protein 7 NA NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) ttatgcctgtcatcccagcac 0.473 NA NA C||| 7 0.00139776 0 0.0014 5008 , , NA 17468 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209619 CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1 8q24 2013-01-08 2006-05-09 ENSG00000147789 ENSG00000147789 7553 Zinc fingers, C2H2-type, - 13139 protein-coding gene gene with protein product 194531 zinc finger protein 7 (KOX 4, clone HF.16) NA 2106481, 1946370 Standard NM_003416 NM_003416 NA Approved KOX4, HF.16 uc003zeg.4 P17097 OTTHUMG00000165200 ENST00000528372.1:c.*166C>A chr8.hg19:g.146068719C>A NA B4DT08|D3DWN6|P17015|Q8N8Y4 hg19 CCDS6435.1 0.02 2.620383 TGTxATC COVERED NOVEL ZNF7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382660.1 15 6.619389 KEEP 0 3 85 52 1807 CC 1 1 0 + 6 60 173 0 0 9.584476 126 60 4346 268 ENST00000528372.1 0.045455 1 ZNF252P 286101 __UNKNOWN__ __UNKNOWN__ 8 146199766 146199766 __UNKNOWN__ RNA SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr8:146199766C>G ENST00000426361.2 - 0 4418 NR_023392.1 zinc finger protein 252, pseudogene NA NA endometrium(1) 1 ctgcactccaccctgtgcaac 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC019922 8q24.3 2012-10-05 2012-04-19 2012-04-19 ENSG00000196922 ENSG00000196922 286101 13046 pseudogene pseudogene NA zinc finger protein 252 ZNF252 NA Standard NR_023392 NR_023392 NA Approved uc011llo.2 OTTHUMG00000165201 ENST00000426361.2: chr8.hg19:g.146199766C>G NA hg19 0.02 -0.219303 CCAxCCT COVERED NOVEL ZNF252P-008 KNOWN basic|exp_conf processed_transcript NA pseudogene OTTHUMT00000451422.1 3 2.407508 KEEP 0 0 0 8 270 CC 0.99254 0.548763 0 - 3 60 98 0 0 7.42773 19 60 649 43 ENST00000426361.2 0.136364 0.552887 DOCK8 81704 __UNKNOWN__ __UNKNOWN__ 9 432330 432330 __UNKNOWN__ Intron SNP C C G rs7036567 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:432330C>G ENST00000469391.1 + 35 4564 DOCK8_ENST00000382329.1_Intron|DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron NM_001190458.1|NM_001193536.1 NP_001177387.1|NP_001180465.1 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 NA NA blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264) cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020) guanyl-nucleotide exchange factor activity (GO:0005085) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CCCAGGTACACCGAAGCACAT 0.388 NA NA C||| 3577 0.714257 0.4501 0.8127 5008 , , NA 18463 0.9772 NA 0.7724 False NA ,,, NA NA NA 2504 0.6708 NA NA NA NA 0 C ,, 2171,2235 583.6+/-385.9 544,1083,576 122 109 113 ,, 2.4 0 9 dbSNP_116 113 6533,2067 718.0+/-406.2 2494,1545,261 no intron,intron,intron DOCK8 NM_001190458.1,NM_001193536.1,NM_203447.3 ,, 3038,2628,837 GG,GC,CC 24.0349,49.2737,33.077 ,, ,, 432330 8704,4302 2203 4300 6503 SO:0001627 intron_variant AK090429 CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1 9p24.3 2014-09-17 ENSG00000107099 ENSG00000107099 81704 19191 protein-coding gene gene with protein product 611432 NA 11214971 Standard XM_036307 NM_203447 NA Approved FLJ00026, FLJ00152, ZIR8, FLJ00346 uc003zgf.2 Q8NF50 OTTHUMG00000078789 ENST00000469391.1:c.4485+6C>G chr9.hg19:g.432330C>G NA A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2 hg19 CCDS55284.1 0.02 3.883136 ACAxCGA COVERED NOVEL DOCK8-012 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000354646.1 3 23.777425 KEEP 0 0 0 79 2775 CC 1 1 0 + 5 60 180 0 0 11.086607 131 60 4564 320 ENST00000469391.1 0.036765 1 JAK2 3717 __UNKNOWN__ __UNKNOWN__ 9 5021918 5021918 __UNKNOWN__ Intron SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:5021918A>C ENST00000381652.3 + 3 469 JAK2_ENST00000539801.1_Intron NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 NA NA actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506) caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634) ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169) BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) Ruxolitinib(DB08877)|Tofacitinib(DB08895) caggtgtgagacactgcgccc 0.493 NA 1 T, Mis, O ETV6, PCM1, BCR ALL, AML, MPD, CML Polycythemia Vera, Familial NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 9 9p24 3717 Janus kinase 2 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database CCDS6457.1 9p24 2014-09-17 2009-04-23 ENSG00000096968 ENSG00000096968 3717 2.7.10.1 SH2 domain containing 6192 protein-coding gene gene with protein product 147796 NA 1848670 Standard NM_004972 NA Approved JTK10 uc003ziw.3 O60674 OTTHUMG00000019490 ENST00000381652.3:c.-25-45A>C chr9.hg19:g.5021918A>C NA O14636|O75297 hg19 CCDS6457.1 0.02 4.132152 GAGxCAC COVERED NOVEL JAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051609.1 22 15.027938 KEEP 0 3 109 88 2698 AA 1 0.999999 0 + 5 60 179 0 0 11.559642 100 60 3117 283 ENST00000381652.3 0.047619 0.999999 CCDC171 203238 __UNKNOWN__ __UNKNOWN__ 9 15971679 15971679 __UNKNOWN__ Missense_Mutation SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:15971679G>C ENST00000380701.3 + 26 4154 c.3826G>C c.(3826-3828)Ggg>Cgg p.G1276R CCDC171_ENST00000486641.2_Intron NM_173550.2 NP_775821.2 Q6TFL3 CC171_HUMAN coiled-coil domain containing 171 1276 NA NA AACTGGTATTGGGGATTTCTT 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 189 178 182 NA NA 9 NA 15971679 2203 4300 6503 SO:0001583 missense AY422473 CCDS6481.1 9p22.2 2012-03-26 2012-03-26 2012-03-26 ENSG00000164989 ENSG00000164989 203238 29828 protein-coding gene gene with protein product myosin tail domain containing protein NA chromosome 9 open reading frame 93 C9orf93 NA 14702039 Standard NM_173550 NM_173550 NA Approved FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1 uc003zmd.3 Q6TFL3 OTTHUMG00000019584 ENST00000380701.3:c.3826G>C chr9.hg19:g.15971679G>C ENSP00000370077:p.Gly1276Arg NA B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2 hg19 CCDS6481.1 0.02 3.323572 ATTxGGG COVERED . . . . . . . . . . G 12.09 1.833706 0.32421 . . ENSG00000164989 ENST00000380701 T 0.13778 2.56 4.95 4.06 0.47325 . 0.447737 0.20826 N 0.084979 T 0.08582 0.0213 N 0.19112 0.55 0.43896 D 0.996521 B;B 0.11235 0.004;0.002 B;B 0.11329 0.006;0.004 T 0.16837 -1.0389 10 0.37606 T 0.19 -4.7563 7.4633 0.27308 0.0919:0.2205:0.6875:0.0 . 1284;1276 B7ZM22;Q6TFL3 .;CI093_HUMAN R 1276 ENSP00000370077:G1276R ENSP00000370077:G1276R G + 1 0 C9orf93 15961679 0.995000 0.38212 0.921000 0.36526 0.934000 0.57294 2.313000 0.43735 1.314000 0.45095 0.655000 0.94253 GGG NOVEL CCDC171-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051768.4 8 5.631438 KEEP 0 6 204 90 3147 GG 1 1 0 + 15 60 493 0 0 35.76137 125 60 4319 335 ENST00000380701.3 0.107143 1 ADAMTSL1 92949 __UNKNOWN__ __UNKNOWN__ 9 18909703 18909703 __UNKNOWN__ 3'UTR SNP G G A rs10117672 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:18909703G>A ENST00000380548.4 + 0 6785 NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 NA NA proteinaceous extracellular matrix (GO:0005578) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTCCAGAGCTGGCCCAGGGAC 0.547 NA NA G||| 1406 0.280751 0.2821 0.2752 5008 , , NA 18405 0.1637 NA 0.4165 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF176313 CCDS6485.1, CCDS47954.1 9p21.3 2013-01-11 ENSG00000178031 ENSG00000178031 92949 Immunoglobulin superfamily / I-set domain containing 14632 protein-coding gene gene with protein product punctin 609198 chromosome 9 open reading frame 94 C9orf94 NA 9628581, 11805097 Standard NM_001040272 NA Approved ADAMTSR1, FLJ35283 uc003zne.4 Q8N6G6 OTTHUMG00000019604 ENST00000380548.4:c.*1157G>A chr9.hg19:g.18909703G>A NA A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3 hg19 CCDS47954.1 0.02 1.023768 GCTxGCC COVERED NOVEL ADAMTSL1-012 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401206.1 3 15.650759 KEEP 0 0 0 52 1852 GG 1 0.999962 0 + 6 60 174 0 0 10.449714 93 60 3213 213 ENST00000380548.4 0.060606 0.999962 IFNA6 3443 __UNKNOWN__ __UNKNOWN__ 9 21351102 21351102 __UNKNOWN__ 5'UTR SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:21351102T>G ENST00000380210.1 - 0 275 NM_021002.2 NP_066282.1 P05013 IFNA6_HUMAN interferon, alpha 6 NA NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) large_intestine(3)|lung(7)|skin(1) 11 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) gtgtgtgtgtttgtgtgtgta 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS6504.1 9p22 2010-12-10 ENSG00000120235 ENSG00000120235 3443 Interferons 5427 protein-coding gene gene with protein product 147566 NA 1385305 Standard NM_021002 NM_021002 NA Approved IFN-alphaK uc011lni.2 P05013 OTTHUMG00000019676 ENST00000380210.1:c.-216A>C chr9.hg19:g.21351102T>G NA Q5VYQ1 hg19 CCDS6504.1 0.02 3.924098 TGTxTGT COVERED NOVEL IFNA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051905.1 24 11.965537 KEEP 0 1 35 52 1572 TT 1 0.999999 0 - 8 60 285 1 0 19.936723 100 60 3000 253 ENST00000380210.1 0.074074 0.999999 IFNA6 3443 __UNKNOWN__ __UNKNOWN__ 9 21351112 21351112 __UNKNOWN__ 5'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:21351112A>G ENST00000380210.1 - 0 265 NM_021002.2 NP_066282.1 P05013 IFNA6_HUMAN interferon, alpha 6 NA NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) large_intestine(3)|lung(7)|skin(1) 11 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) ttgtgtgtgtatgtgGTCATT 0.299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS6504.1 9p22 2010-12-10 ENSG00000120235 ENSG00000120235 3443 Interferons 5427 protein-coding gene gene with protein product 147566 NA 1385305 Standard NM_021002 NM_021002 NA Approved IFN-alphaK uc011lni.2 P05013 OTTHUMG00000019676 ENST00000380210.1:c.-226T>C chr9.hg19:g.21351112A>G NA Q5VYQ1 hg19 CCDS6504.1 0.02 3.816833 TGTxTGT COVERED NOVEL IFNA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051905.1 22 11.5582 KEEP 0 1 36 51 1503 AA 1 0.999999 0 - 6 60 194 0 0 12.255982 103 60 3017 262 ENST00000380210.1 0.055046 0.999999 MTAP 4507 __UNKNOWN__ __UNKNOWN__ 9 21863609 21863609 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:21863609A>G ENST00000380172.4 + 0 2654 MTAP_ENST00000580900.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron NM_002451.3 NP_002442.2 methylthioadenosine phosphorylase NA NA p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) gcaacagagtaagactcagtc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB062485 CCDS6509.1 9p21 2013-05-29 ENSG00000099810 ENSG00000099810 4507 2.4.2.28 7413 protein-coding gene gene with protein product S-methyl-5'-thioadenosine phosphorylase 156540 NA 11126361 Standard NM_002451 NM_002451 NA Approved MSAP, c86fus uc003zph.3 Q13126 OTTHUMG00000019690 ENST00000380172.4:c.*1596A>G chr9.hg19:g.21863609A>G NA hg19 CCDS6509.1 0.02 -0.306909 AGTxAGA COVERED NOVEL MTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051927.2 8 2.981963 KEEP 1 0 0 10 272 AA 0.992708 0.79441 0 + 3 60 107 0 0 7.992384 25 60 690 62 ENST00000380172.4 0.107143 0.800245 TOPORS 10210 __UNKNOWN__ __UNKNOWN__ 9 32540945 32540945 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:32540945T>C ENST00000360538.2 - 0 3694 TOPORS_ENST00000379858.1_3'UTR NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase NA NA cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511) centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151) antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TTTTGAATCATATAAATTTTT 0.259 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF098300 CCDS6527.1, CCDS56566.1 9p21 2013-01-09 2010-09-17 ENSG00000197579 ENSG00000197579 10210 RING-type (C3HC4) zinc fingers 21653 protein-coding gene gene with protein product 609507 retinitis pigmentosa 31 (autosomal dominant), topoisomerase I binding, arginine/serine-rich RP31 NA 10352183, 12083797, 17924349 Standard NM_005802 NM_005802 NA Approved TP53BPL, LUN uc003zrb.3 Q9NS56 OTTHUMG00000019743 ENST00000360538.2:c.*440A>G chr9.hg19:g.32540945T>C NA O43273|Q6P987|Q9NS55|Q9UNR9 hg19 CCDS6527.1 0.02 1.599289 TCAxATA COVERED NOVEL TOPORS-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052007.1 4 7.188958 KEEP 0 2 72 49 1455 TT 1 0.999835 0 - 7 60 236 0 0 16.262672 83 60 2451 207 ENST00000360538.2 0.077778 0.999835 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395108 33395108 __UNKNOWN__ Silent SNP G G A rs2381003 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:33395108G>A ENST00000539936.1 - 3 350 c.112C>T c.(112-114)Ctg>Ttg p.L38L AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 38 NA L -> V (in dbSNP:rs2381003). excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) AACTCGGCCAGGAACTCTCGC 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 129 86 101 NA NA 9 NA 33395108 2203 4300 6503 SO:0001819 synonymous_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000539936.1:c.112C>T chr9.hg19:g.33395108G>A NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 2.918394 CCAxGAA COVERED NOVEL AQP7-203 KNOWN basic protein_coding NA protein_coding 11 11.894332 KEEP 0 2 61 61 2108 GG 1 0.999993 0 - 10 60 298 0 0 20.156107 97 60 3388 229 ENST00000539936.1 0.093458 0.999993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 33662389 33662389 __UNKNOWN__ IGR SNP A A G rs1832325 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:33662389A>G NA NA TRBV23OR9-2 (23897 upstream) : PTENP1 (11112 downstream) NA NA NA AAGGAAGCTGAAATCTACCAG 0.463 NA NA A||| 1006 0.200879 0.2496 0.2277 5008 , , NA 21770 0.2133 NA 0.2237 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.33662389A>G NA hg19 0.02 1.608062 CTGxAAT COVERED 482 0.2206959706959707 138 0.2804878048780488 75 0.20718232044198895 109 0.19055944055944055 160 0.21108179419525067 A 0.013 -1.610608 0.00835 . . ENSG00000240215 ENST00000438417 . . . 2.79 -5.58 0.02512 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.26430 -1.0103 4 0.02654 T 1 . 1.4648 0.02403 0.2509:0.1958:0.3891:0.1641 rs1832325;rs41446046;rs61391655;rs1832325 . . . G 22 . ENSP00000403609:E22G E + 2 0 TRBV25OR9-2 33652389 0.000000 0.05858 0.000000 0.03702 0.029000 0.11900 -1.363000 0.02592 -1.094000 0.03054 0.145000 0.16022 GAA NOVEL 0 4 14.738203 KEEP 0 0 0 49 1470 AA 1 0.999804 0 4 60 137 0 0 8.567135 83 60 2523 201 0.045977 0.999804 PRSS3 5646 __UNKNOWN__ __UNKNOWN__ 9 33799185 33799185 __UNKNOWN__ 3'UTR SNP C C T rs558645886 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:33799185C>T ENST00000379405.3 + 0 790 PRSS3_ENST00000342836.4_3'UTR|PRSS3_ENST00000361005.5_3'UTR|PRSS3_ENST00000429677.3_3'UTR|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000495682.1_3'UTR NM_002771.3 NP_002762 P35030 TRY3_HUMAN protease, serine, 3 NA NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) CTAAAGCCCCCGGTCCCTCTG 0.542 NA NA C||| 4 0.000798722 0 0 5008 , , NA 17741 0 NA 0.004 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 92 87 89 NA NA 9 NA 33799185 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1 9p13 2010-05-07 2008-03-11 ENSG00000010438 ENSG00000010438 5646 3.4.21.4 Serine peptidases / Serine peptidases 9486 protein-coding gene gene with protein product mesotrypsin 613578 protease, serine, 4 (trypsin 4, brain), protease, serine, 3 (mesotrypsin) PRSS4 NA 2326201, 8294000 Standard NM_002771 NM_002771 NA Approved TRY3, TRY4 uc003ztj.4 P35030 OTTHUMG00000019798 ENST00000379405.3:c.*7C>T chr9.hg19:g.33799185C>T NA A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3 hg19 CCDS6545.1 0.02 4.432079 CCCxGGT COVERED NOVEL PRSS3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052122.1 13 5.698412 KEEP 6 11 339 138 4710 CC 1 1 0 + 12 40 375 0 0 24.763625 147 60 4933 496 ENST00000379405.3 0.075472 1 CCL19 6363 __UNKNOWN__ __UNKNOWN__ 9 34689659 34689659 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:34689659T>A ENST00000311925.2 - 0 591 CCL19_ENST00000485502.1_5'UTR NM_006274.2 NP_006265.1 Q99731 CCL19_HUMAN chemokine (C-C motif) ligand 19 NA NA activation of JUN kinase activity (GO:0007257)|cell communication (GO:0007154)|cell maturation (GO:0048469)|cellular calcium ion homeostasis (GO:0006874)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cell motility (GO:2000147)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell dendrite assembly (GO:2000549)|positive regulation of endocytosis (GO:0045807)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell projection assembly (GO:0060491)|release of sequestered calcium ion into cytosol (GO:0051209)|response to nitric oxide (GO:0071731)|response to organic cyclic compound (GO:0014070)|response to prostaglandin E (GO:0034695)|response to virus (GO:0009615)|T cell costimulation (GO:0031295) extracellular region (GO:0005576)|extracellular space (GO:0005615) CCR chemokine receptor binding (GO:0048020)|CCR10 chemokine receptor binding (GO:0031735)|CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379) NA all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) TCGCTCACACTCACACTCACA 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Melanoma(129;177 1723 4710 11020 27705) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB000887 CCDS6570.1 9p13 2014-05-14 2002-08-22 2002-08-23 ENSG00000172724 ENSG00000172724 6363 Chemokine ligands, Endogenous ligands 10617 protein-coding gene gene with protein product CC chemokine ligand 19, macrophage inflammatory protein 3-beta, beta chemokine exodus-3, CK beta-11, EBI1-ligand chemokine 602227 small inducible cytokine subfamily A (Cys-Cys), member 19 SCYA19 NA 9153236 Standard NM_006274 NM_006274 NA Approved ELC, MIP-3b, exodus-3, CKb11 uc003zvn.3 Q99731 OTTHUMG00000019833 ENST00000311925.2:c.*157A>T chr9.hg19:g.34689659T>A NA O00697|O00736 hg19 CCDS6570.1 0.02 2.606924 CACxCAC COVERED NOVEL CCL19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052225.1 9 18.688753 KEEP 0 1 31 73 2265 TT 1 0.999999 0 - 6 60 176 0 0 10.113025 115 60 3523 275 ENST00000311925.2 0.049587 0.999999 UNC13B 10497 __UNKNOWN__ __UNKNOWN__ 9 35404840 35404840 __UNKNOWN__ 3'UTR SNP G G A rs12726 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:35404840G>A ENST00000378495.3 + 0 5808 NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) NA NA apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195) diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GGATCCAGGAGTATTTTCTTC 0.512 NA NA g||| 423 0.0844649 0.0106 0.1729 5008 , , NA 19082 0 NA 0.2495 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF020202 CCDS6579.1 9p13.3 2008-05-15 2003-10-17 2003-10-17 ENSG00000198722 ENSG00000198722 10497 12566 protein-coding gene gene with protein product 605836 unc-13-like (C. elegans) UNC13 NA 9607201 Standard NM_006377 NM_006377 NA Approved hmunc13, Unc13h2 uc003zwq.3 O14795 OTTHUMG00000019856 ENST00000378495.3:c.*810G>A chr9.hg19:g.35404840G>A NA Q5VYM8 hg19 CCDS6579.1 0.02 1.239313 GGAxTAT COVERED NOVEL UNC13B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000052296.1 4 14.748188 KEEP 0 0 0 49 1743 GG 1 0.99994 0 + 6 60 181 0 0 11.227898 90 60 3139 206 ENST00000378495.3 0.0625 0.99994 SHB 6461 __UNKNOWN__ __UNKNOWN__ 9 37919306 37919306 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:37919306T>A ENST00000377707.3 - 0 2607 RP11-613M10.9_ENST00000540557.1_Intron NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) SH3/SH2 adaptor activity (GO:0005070) central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) acacacacactcacacagaca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43806.1 9p13.2 2013-09-23 2005-05-24 ENSG00000107338 ENSG00000107338 6461 SH2 domain containing 10838 protein-coding gene gene with protein product 600314 SHB adaptor protein (a Src homology 2 protein), SHB (Src homology 2 domain containing) adaptor protein B NA 7713524 Standard NM_003028 NA Approved uc004aax.3 Q15464 OTTHUMG00000019936 ENST00000377707.3:c.*512A>T chr9.hg19:g.37919306T>A NA B9EGM0|D3DRQ5|Q504U5|Q5VUM8 hg19 CCDS43806.1 0.02 4.403786 CACxCAC COVERED NOVEL SHB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052490.1 38 16.570935 KEEP 0 5 153 109 3252 TT 1 1 0 - 10 60 289 0 0 17.319597 155 60 4639 393 ENST00000377707.3 0.060606 1 CNTNAP3B 728577 __UNKNOWN__ __UNKNOWN__ 9 43819774 43819774 __UNKNOWN__ Intron SNP T T A rs143321762 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:43819774T>A ENST00000377564.3 + 7 1464 CNTNAP3B_ENST00000276974.6_3'UTR NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B NA NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AAAAAAAAAGTTGGGTTTGAA 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX538190 CCDS75836.1 9p12 2007-12-14 ENSG00000154529 ENSG00000154529 728577 32035 protein-coding gene gene with protein product NA NA 15820314 Standard XM_006716853 NA Approved uc004abr.1 Q96NU0 OTTHUMG00000013174 ENST00000377564.3:c.1071+1590T>A chr9.hg19:g.43819774T>A NA B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3 hg19 CCDS55312.1 0.02 3.819535 AAGxTGG COVERED NOVEL CNTNAP3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000036930.3 23 34.178115 KEEP 43 2 28 124 3818 TT 1 1 0 + 11 21 301 0 0 17.646405 161 60 4975 494 ENST00000377564.3 0.063953 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457322 66457322 __UNKNOWN__ lincRNA SNP G G C rs11262292 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:66457322G>C ENST00000424345.1 + 0 34 NA NA NA tggagcgacagcgacagagcc 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457322G>C NA hg19 0.02 8.061265 ACAxCGA COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 26 6.235848 KEEP 63 6 210 94 3335 GG 1 1 0 + 19 49 666 0 0 51.71698 118 60 4203 514 ENST00000424345.1 0.138686 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457330 66457330 __UNKNOWN__ lincRNA SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:66457330G>T ENST00000424345.1 + 0 42 NA NA NA cagcgacagagccttggagag 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457330G>T NA hg19 0.02 6.545294 AGAxCCT COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 30 26.353616 KEEP 69 2 61 109 3829 GG 1 1 0 + 10 48 303 1 0 19.224011 137 60 4820 540 ENST00000424345.1 0.068027 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457348 66457348 __UNKNOWN__ lincRNA SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:66457348C>G ENST00000424345.1 + 0 60 NA NA NA gagggagGCTCTGCTCAGGTA 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457348C>G NA hg19 0.02 10.022911 GCTxTGC COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 27 9.679874 KEEP 70 7 243 117 3999 CC 1 1 0 + 9 49 314 0 0 20.460347 159 60 5393 559 ENST00000424345.1 0.053571 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457652 66457652 __UNKNOWN__ lincRNA SNP C C T rs1809741 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:66457652C>T ENST00000424345.1 + 0 67 NA NA NA TCCTGTCCTCCGGACTGGAGT 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457652C>T NA hg19 0.02 2.997233 CTCxGGA COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 3 4.715108 KEEP 21 3 95 49 1549 AC 1 1 0 + 13 60 405 0 0 28.891079 106 60 3381 292 ENST00000424345.1 0.109244 1 RP11-764K9.1 0 __UNKNOWN__ __UNKNOWN__ 9 68409539 68409539 __UNKNOWN__ lincRNA SNP C C A rs111658015 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68409539C>A ENST00000417843.2 - 0 67 NA NA NA GTCCGGAGGACAGGAGAGAGA 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000417843.2: chr9.hg19:g.68409539C>A NA hg19 0.02 -0.280729 GGAxAGG COVERED NOVEL RP11-764K9.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000129817.2 3 2.443473 KEEP 14 1 34 20 698 CC 0.999863 0.760782 0 - 3 27 102 0 0 7.397116 27 60 942 110 ENST00000417843.2 0.1 0.760887 RP11-764K9.1 0 __UNKNOWN__ __UNKNOWN__ 9 68409852 68409852 __UNKNOWN__ lincRNA SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68409852C>A ENST00000417843.2 - 0 41 NA NA NA ctctccaaggctctgtcgctg 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000417843.2: chr9.hg19:g.68409852C>A NA hg19 0.02 1.453828 AGGxTCT COVERED NOVEL RP11-764K9.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000129817.2 22 8.630298 KEEP 61 3 71 54 1891 CC 1 0.999559 0 - 7 27 180 0 0 12.2552 50 60 1742 250 ENST00000417843.2 0.122807 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415285 68415285 __UNKNOWN__ IGR SNP A A G rs138091972|rs35223114 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68415285A>G NA NA RP11-764K9.1 (5392 upstream) : MIR4477B (22 downstream) NA NA NA aggattcaccattaatccttt 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68415285A>G NA hg19 0.02 1.564102 ACCxTTA COVERED NOVEL 0 5 6.555096 KEEP 0 1 35 34 1066 AA 0.999999 0.999906 0 4 60 136 0 0 8.446592 84 60 2569 209 0.045455 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415292 68415292 __UNKNOWN__ IGR SNP C C T rs4928838 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68415292C>T NA NA RP11-764K9.1 (5399 upstream) : MIR4477B (15 downstream) NA NA NA accattaatcctttcatgata 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68415292C>T NA hg19 0.02 1.373669 ATCxTTT COVERED NOVEL 0 5 10.835051 KEEP 0 0 0 36 1284 CC 0.999999 0.999894 0 4 60 134 0 0 8.266874 83 60 3010 203 0.045977 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415293 68415293 __UNKNOWN__ IGR SNP T T C rs35922576 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68415293T>C NA NA RP11-764K9.1 (5400 upstream) : MIR4477B (14 downstream) NA NA NA ccattaatcctttcatgatat 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68415293T>C NA hg19 0.02 1.780945 TCCxTTC COVERED NOVEL 0 4 2.878919 KEEP 0 2 70 34 1106 TT 0.999999 0.99988 0 4 60 147 0 0 9.605923 81 60 2636 202 0.047059 0.999881 MIR4477B 100616194 __UNKNOWN__ __UNKNOWN__ 9 68415318 68415318 __UNKNOWN__ RNA SNP G G A rs35282198 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68415318G>A ENST00000581659.1 + 0 11 NR_039688.1|NR_039689.1 microRNA 4477b NA NA NA acctcctcccgtgaatcacaa 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 9 2011-09-12 100616194 ncRNAs / Micro RNAs 41898 non-coding RNA RNA, micro NA NA Standard NR_039689 NR_039689 NA Approved hsa-mir-4477b ENST00000581659.1: chr9.hg19:g.68415318G>A NA hg19 0.02 1.256885 CCCxTGA COVERED NOVEL MIR4477B-201 KNOWN basic miRNA NA miRNA 5 2.780089 KEEP 0 2 68 33 1140 GG 0.999999 0.999918 0 + 8 60 235 2 0 15.727189 79 60 2658 188 ENST00000581659.1 0.091954 0.999919 MIR4477B 100616194 __UNKNOWN__ __UNKNOWN__ 9 68415353 68415353 __UNKNOWN__ RNA SNP T T G rs71242635 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68415353T>G ENST00000581659.1 + 0 46 NR_039688.1|NR_039689.1 microRNA 4477b NA NA NA aatccttaaatgccattaagg 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 9 2011-09-12 100616194 ncRNAs / Micro RNAs 41898 non-coding RNA RNA, micro NA NA Standard NR_039689 NR_039689 NA Approved hsa-mir-4477b ENST00000581659.1: chr9.hg19:g.68415353T>G NA hg19 0.02 1.844828 AAAxGCC COVERED NOVEL MIR4477B-201 KNOWN basic miRNA NA miRNA 5 2.442788 KEEP 0 1 37 21 649 TT 0.999879 0.990844 0 + 4 60 130 0 0 8.89558 45 60 1332 101 ENST00000581659.1 0.081633 0.990964 MIR4477B 100616194 __UNKNOWN__ __UNKNOWN__ 9 68415355 68415355 __UNKNOWN__ RNA SNP C C T rs4452915 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68415355C>T ENST00000581659.1 + 0 48 NR_039688.1|NR_039689.1 microRNA 4477b NA NA NA tccttaaatgccattaaggac 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 9 2011-09-12 100616194 ncRNAs / Micro RNAs 41898 non-coding RNA RNA, micro NA NA Standard NR_039689 NR_039689 NA Approved hsa-mir-4477b ENST00000581659.1: chr9.hg19:g.68415355C>T NA hg19 0.02 1.572732 ATGxCAT COVERED NOVEL MIR4477B-201 KNOWN basic miRNA NA miRNA 4 2.542588 KEEP 0 1 30 19 647 AC 0.999879 0.987823 0 + 5 60 156 0 0 11.121457 41 60 1348 97 ENST00000581659.1 0.108696 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427847 68427847 __UNKNOWN__ IGR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68427847C>T NA NA MIR4477B (12459 upstream) : CR786580.2 (84498 downstream) NA NA NA AAGGCAGAAACAAAAATCCCA 0.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68427847C>T NA hg19 0.02 11.61405 AAAxAAA COVERED NOVEL 0 34 53.98299 KEEP 57 6 178 242 8610 CC 1 1 0 13 48 393 0 0 21.301866 344 70 12021 1046 0.036415 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433588 68433588 __UNKNOWN__ IGR SNP A A T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:68433588A>T NA NA MIR4477B (18200 upstream) : CR786580.2 (78757 downstream) NA NA NA AAAATAACAAAATAGCCATGA 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.68433588A>T NA hg19 0.02 7.301971 CAAxATA COVERED NOVEL 0 37 23.301026 KEEP 47 7 215 153 4761 AA 1 1 0 9 60 277 0 0 16.866576 155 60 4800 710 0.054878 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 74666273 74666273 __UNKNOWN__ IGR SNP G G A rs11143086 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:74666273G>A NA NA C9orf85 (65303 upstream) : C9orf57 (18 downstream) NA NA NA CCTAAGTCCCGAGAAAAAGAC 0.299 NA NA G||| 1414 0.282348 0.1513 0.3444 5008 , , NA 15096 0.0784 NA 0.6014 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr9.hg19:g.74666273G>A NA hg19 0.02 -0.245611 CCCxAGA COVERED NOVEL 0 5 2.708684 KEEP 0 0 0 9 303 GG 0.99254 0.636563 0 8 60 239 0 0 20.590884 19 60 636 56 0.296296 0.641347 VPS13A 23230 __UNKNOWN__ __UNKNOWN__ 9 79997881 79997881 __UNKNOWN__ Intron SNP T T C rs10869921 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:79997881T>C ENST00000360280.3 + 68 9449 VPS13A_ENST00000376634.4_3'UTR|VPS13A_ENST00000357409.5_Intron|VPS13A_ENST00000376636.3_Intron NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) NA NA cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176) dense core granule (GO:0031045)|intracellular (GO:0005622) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTCTGTGGTTTAGAGGTGGAA 0.323 NA NA T||| 1925 0.384385 0.2209 0.4957 5008 , , NA 17268 0.3502 NA 0.4254 False NA ,,, NA NA NA 2504 0.5194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023203 CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1 9q21 2014-01-30 2006-04-04 2004-02-11 ENSG00000197969 ENSG00000197969 23230 1908 protein-coding gene gene with protein product chorein 605978 chorea acanthocytosis, vacuolar protein sorting 13A (yeast) CHAC NA 9382101, 11381253 Standard NM_015186 NM_001018038 NA Approved KIAA0986 uc004akr.3 Q96RL7 OTTHUMG00000020055 ENST00000360280.3:c.9189+878T>C chr9.hg19:g.79997881T>C NA Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1 hg19 CCDS6655.1 0.02 1.923761 GTTxAGA COVERED NOVEL VPS13A-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052753.2 2 8.424027 KEEP 0 0 0 28 848 TT 0.999997 0.970817 0 + 5 60 167 0 0 11.896704 48 60 1431 122 ENST00000360280.3 0.09434 0.97082 GNAQ 2776 __UNKNOWN__ __UNKNOWN__ 9 80333235 80333235 __UNKNOWN__ 3'UTR SNP G G A rs78763022 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:80333235G>A ENST00000286548.4 - 0 4306 NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide NA NA action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826) NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 AAAGAATCCCGTCCCGCCCCT 0.388 NA NA Mis uveal melanoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 9 9q21 2776 guanine nucleotide binding protein (G protein), q polypeptide E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6658.1 9q21 2010-03-17 ENSG00000156052 ENSG00000156052 2776 4390 protein-coding gene gene with protein product 600998 NA 8825633 Standard NM_002072 NM_002072 NA Approved G-ALPHA-q, GAQ uc004akw.3 P50148 OTTHUMG00000020059 ENST00000286548.4:c.*3004C>T chr9.hg19:g.80333235G>A NA O15108|Q13462|Q6NT27|Q92471|Q9BZB9 hg19 CCDS6658.1 0.02 6.140494 CCCxTCC COVERED NOVEL GNAQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052761.1 19 18.846937 KEEP 2 3 86 93 3041 GG 1 1 0 - 13 49 390 0 0 24.250663 190 60 6212 450 ENST00000286548.4 0.064039 1 TLE1 7088 __UNKNOWN__ __UNKNOWN__ 9 84303843 84303843 __UNKNOWN__ 5'UTR SNP G G A rs367779642 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:84303843G>A ENST00000376499.3 - 0 377 NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GGCGCGCCGGGAGGCGGCTCG 0.726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS6661.1 9q21.32 2013-01-10 2001-11-28 ENSG00000196781 ENSG00000196781 7088 WD repeat domain containing 11837 protein-coding gene gene with protein product enhancer of split groucho 1 600189 transducin-like enhancer of split 1, homolog of Drosophila E(sp1) NA 8365415, 8808280 Standard NM_005077 NM_005077 NA Approved ESG1, GRG1, ESG uc004aly.3 Q04724 OTTHUMG00000021008 ENST00000376499.3:c.-688C>T chr9.hg19:g.84303843G>A NA A8K495|Q5T3G4|Q969V9 hg19 CCDS6661.1 0.02 6.743813 CGGxAGG COVERED NOVEL TLE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055407.1 4 8.670087 KEEP 0 10 290 131 4589 GG 1 1 0 - 23 51 692 0 0 48.840228 184 60 6336 521 ENST00000376499.3 0.111111 1 IDNK 414328 __UNKNOWN__ __UNKNOWN__ 9 86241607 86241607 __UNKNOWN__ Intron SNP T T C rs527291236 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:86241607T>C ENST00000376419.4 + 2 54 IDNK_ENST00000376417.4_Intron|IDNK_ENST00000277124.8_5'UTR|IDNK_ENST00000454393.1_Intron|IDNK_ENST00000405990.3_Intron NM_001001551.3 NP_001001551.2 Q5T6J7 GNTK_HUMAN idnK, gluconokinase homolog (E. coli) NA NA D-gluconate catabolic process (GO:0046177) ATP binding (GO:0005524)|gluconokinase activity (GO:0046316) NA gctgggattataggcgtgagc 0.532 NA NA T||| 1 0.000199681 8e-04 0 5008 , , NA 20264 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC036421 CCDS35048.1, CCDS35048.2, CCDS59134.1 9q21.32 2012-03-30 2012-03-30 2012-03-30 ENSG00000148057 ENSG00000148057 414328 31367 protein-coding gene gene with protein product 611343 chromosome 9 open reading frame 103 C9orf103 NA Standard NM_001001551 NM_001001551 NA Approved bA522I20.2 uc004amu.3 Q5T6J7 OTTHUMG00000020105 ENST00000376419.4:c.51-1489T>C chr9.hg19:g.86241607T>C NA A5PLN6|Q5T6J6 hg19 CCDS35048.2 0.02 -0.377136 TTAxAGG COVERED NOVEL IDNK-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052837.2 14 3.844463 KEEP 0 1 35 25 742 TT 0.999957 0.90903 0 + 4 60 137 0 0 10.057188 34 60 1000 100 ENST00000376419.4 0.105263 0.909069 KIF27 55582 __UNKNOWN__ __UNKNOWN__ 9 86451745 86451745 __UNKNOWN__ 3'UTR SNP A A G rs2542778 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:86451745A>G ENST00000297814.2 - 0 4520 RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000458016.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000413982.1_3'UTR|KIF27_ENST00000334204.2_3'UTR NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 NA NA ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591) cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 AAAACTCCCCAAATATATATA 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY237536 CCDS6665.1, CCDS65071.1, CCDS65072.1 9q21.32 2008-03-03 ENSG00000165115 ENSG00000165115 55582 Kinesins 18632 protein-coding gene gene with protein product 611253 NA Standard NM_017576 NM_017576 NA Approved DKFZp434D0917 uc004ana.4 Q86VH2 OTTHUMG00000020109 ENST00000297814.2:c.*171T>C chr9.hg19:g.86451745A>G NA B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54 hg19 CCDS6665.1 0.02 1.499928 CCCxAAT COVERED NOVEL KIF27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052861.1 4 6.017208 KEEP 1 0 0 20 601 AA 0.999863 0.979392 0 - 5 47 146 0 0 9.676245 51 60 1573 109 ENST00000297814.2 0.089286 0.979526 NTRK2 4915 __UNKNOWN__ __UNKNOWN__ 9 87492028 87492028 __UNKNOWN__ Intron SNP T T C rs6559833 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:87492028T>C ENST00000323115.4 + 12 1938 NTRK2_ENST00000376213.1_Intron|NTRK2_ENST00000376208.1_3'UTR|NTRK2_ENST00000277120.3_Intron|NTRK2_ENST00000304053.6_3'UTR|NTRK2_ENST00000376214.1_Intron Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 NA NA activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570) cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195) ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 Amitriptyline(DB00321) CACACTTTCCTTCTCGGATTG 0.423 NA NA TSP Lung(25;0.17) C||| 1675 0.334465 0.4917 0.3847 5008 , , NA 20699 0.2579 NA 0.1849 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF410902 CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1 9q22.1 2013-01-11 ENSG00000148053 ENSG00000148053 4915 2.7.10.1 Immunoglobulin superfamily / I-set domain containing 8032 protein-coding gene gene with protein product 600456 NA 7789988 Standard NM_001018065 NA Approved TRKB uc004anz.1 Q16620 OTTHUMG00000020120 ENST00000323115.4:c.1585+9682T>C chr9.hg19:g.87492028T>C NA B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7 hg19 CCDS35050.1 0.02 -0.377141 TCCxTCT COVERED NOVEL NTRK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052882.1 5 7.822331 KEEP 0 0 0 26 804 TT 0.999957 0.918131 0 + 3 60 104 0 0 7.139871 39 60 1198 98 ENST00000323115.4 0.071429 0.918171 AGTPBP1 23287 __UNKNOWN__ __UNKNOWN__ 9 88247682 88247682 __UNKNOWN__ Missense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:88247682G>A ENST00000376083.3 - 14 1866 c.1790C>T c.(1789-1791)aCg>aTg p.T597M AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.T475M|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.T649M|AGTPBP1_ENST00000357081.3_Missense_Mutation_p.T637M NM_015239.2 NP_056054.2 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 637 NA adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041) cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634) metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GACAGACTTCGTATTTTTCAC 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 116 106 110 NA NA 9 NA 88247682 2203 4300 6503 SO:0001583 missense AB028958 CCDS6672.1, CCDS75854.1 9q21.33 2014-06-23 ENSG00000135049 ENSG00000135049 23287 17258 protein-coding gene gene with protein product cytosolic carboxypeptidase 1, tubulinyl-Tyr carboxypeptidase, carboxypeptidase-tubulin, tyrosine carboxypeptidase, soluble carboxypeptidase 606830 NA 11083920 Standard NM_015239 NM_015239 NA Approved KIAA1035, Nna1, CCP1 uc010mqc.3 Q9UPW5 OTTHUMG00000020124 ENST00000376083.3:c.1790C>T chr9.hg19:g.88247682G>A ENSP00000365251:p.Thr597Met NA B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1 hg19 CCDS6672.1 0.02 -0.438587 TTCxTAT COVERED . . . . . . . . . . G 25.1 4.600316 0.87055 . . ENSG00000135049 ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218 T;T;T;T 0.61158 1.77;1.78;1.74;0.13 6.03 6.03 0.97812 . 0.000000 0.85682 D 0.000000 T 0.78246 0.4253 M 0.74881 2.28 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.997;0.996;0.999;0.997 T 0.78529 -0.2169 10 0.87932 D 0 -18.7489 20.5568 0.99304 0.0:0.0:1.0:0.0 . 649;637;475;597 Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2 .;CBPC1_HUMAN;.;. M 637;597;649;475 ENSP00000349592:T637M;ENSP00000365251:T597M;ENSP00000365277:T649M;ENSP00000402804:T475M ENSP00000349592:T637M T - 2 0 AGTPBP1 87437502 1.000000 0.71417 0.994000 0.49952 0.900000 0.52787 9.066000 0.93949 2.861000 0.98227 0.655000 0.94253 ACG NOVEL AGTPBP1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052894.1 0 4.480901 KEEP 0 2 57 35 1164 GG 1 0.959859 0 - 4 60 121 0 0 7.96023 46 60 1541 119 ENST00000376083.3 0.08 0.959859 FANCC 2176 __UNKNOWN__ __UNKNOWN__ 9 97885751 97885751 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:97885751A>G ENST00000289081.3 - 10 1251 FANCC_ENST00000375305.1_Intron|FANCC_ENST00000464653.1_Intron NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C NA NA DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) gtgaaaccccatctctaataa 0.507 NA NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia C 9 9q22.3 2176 Fanconi anemia, complementation group C L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) BC006303 CCDS35071.1, CCDS75861.1 9q22.3 2014-09-17 ENSG00000158169 ENSG00000158169 2176 Fanconi anemia, complementation groups 3584 protein-coding gene gene with protein product 613899 FACC NA 1303234 Standard NM_000136 NM_001243743 NA Approved FAC, FA3 uc004avh.3 Q00597 OTTHUMG00000020279 ENST00000289081.3:c.996+1616T>C chr9.hg19:g.97885751A>G NA B1ALR8 hg19 CCDS35071.1 0.02 1.819153 CCCxTCT COVERED NOVEL FANCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053219.1 9 5.64671 KEEP 0 1 35 31 886 AA 0.999997 0.9937 0 - 4 60 140 0 0 9.623561 53 60 1524 117 ENST00000289081.3 0.070175 0.993703 ZNF782 158431 __UNKNOWN__ __UNKNOWN__ 9 99579033 99579033 __UNKNOWN__ 3'UTR SNP C C G rs191813914 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:99579033C>G ENST00000481138.1 - 0 3933 NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) gagtgtgtgtctgtgtgtgtg 0.303 NA NA C||| 3 0.000599042 0 0.0014 5008 , , NA 18244 0 NA 0.002 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131468 CCDS35075.1 9q22.33 2013-01-08 ENSG00000196597 ENSG00000196597 158431 Zinc fingers, C2H2-type, - 33110 protein-coding gene gene with protein product NA NA Standard NM_001001662 NM_001001662 NA Approved FLJ16636 uc004awp.1 Q6ZMW2 OTTHUMG00000020310 ENST00000481138.1:c.*1172G>C chr9.hg19:g.99579033C>G NA B2RNR0 hg19 CCDS35075.1 0.02 1.956382 TGTxTGT COVERED NOVEL ZNF782-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356810.1 13 3.946351 KEEP 0 1 28 23 803 CC 0.999909 0.99811 0 - 6 60 196 1 0 13.73936 60 60 2046 126 ENST00000481138.1 0.090909 0.9982 TMOD1 7111 __UNKNOWN__ __UNKNOWN__ 9 100286431 100286431 __UNKNOWN__ 5'UTR SNP C C A rs41274244 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:100286431C>A ENST00000259365.4 + 0 174 TMOD1_ENST00000395211.2_5'UTR NM_003275.3 NP_003266.1 P28289 TMOD1_HUMAN tropomodulin 1 NA NA adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239) cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) AGGTATTACTCAGCACAGAAA 0.468 NA NA C||| 237 0.0473243 0.0234 0.0807 5008 , , NA 18919 0.001 NA 0.1392 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 C , 176,4230 115.9+/-153.8 1,174,2028 76 70 72 , 3 0 9 dbSNP_127 72 970,7630 210.4+/-251.3 58,854,3388 no utr-5,utr-5 TMOD1 NM_001166116.1,NM_003275.3 , 59,1028,5416 AA,AC,CC 11.2791,3.9946,8.8113 , , 100286431 1146,11860 2203 4300 6503 SO:0001623 5_prime_UTR_variant CCDS6726.1 9q22 2008-07-21 2003-03-21 ENSG00000136842 ENSG00000136842 7111 11871 protein-coding gene gene with protein product 190930 D9S57E, TMOD NA 1370827, 8661028 Standard NM_003275 NM_003275 NA Approved ETMOD uc004axl.2 P28289 OTTHUMG00000020325 ENST00000259365.4:c.-40C>A chr9.hg19:g.100286431C>A NA B2RB77|Q5T7W3|Q9BUF1 hg19 CCDS6726.1 0.02 2.841986 ACTxAGC COVERED NOVEL TMOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053320.2 3 36.116921 KEEP 0 0 0 120 4204 CC 1 1 0 + 6 60 181 0 0 10.460202 122 60 4247 369 ENST00000259365.4 0.046875 1 NCBP1 4686 __UNKNOWN__ __UNKNOWN__ 9 100426581 100426581 __UNKNOWN__ Intron SNP A A G rs4126856 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:100426581A>G ENST00000375147.3 + 19 2053 NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) ATGTGTGTGTATGTGTGTGTG 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(36;879 898 2893 44212 50307) NA 0 100 92 94 NA NA 9 NA 100426581 2203 4300 6503 SO:0001627 intron_variant BC001450 CCDS6728.1 9q34.1 2010-01-26 2002-08-29 ENSG00000136937 ENSG00000136937 4686 7658 protein-coding gene gene with protein product 600469 nuclear cap binding protein subunit 1, 80kD NCBP NA 7937105, 8812508 Standard NM_002486 NM_002486 NA Approved CBP80, Sto1 uc004axq.3 Q09161 OTTHUMG00000020332 ENST00000375147.3:c.1798-41A>G chr9.hg19:g.100426581A>G NA B2R718|Q59G76|Q5T1V0|Q5T7X2 hg19 CCDS6728.1 0.02 -0.36804 TGTxTGT COVERED NOVEL NCBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053337.1 5 5.706468 KEEP 0 0 0 19 546 AA 0.99986 0.899188 0 + 3 60 106 0 1 7.406795 37 60 1020 80 ENST00000375147.3 0.075 0.899314 TGFBR1 7046 __UNKNOWN__ __UNKNOWN__ 9 101911656 101911656 __UNKNOWN__ 3'UTR SNP A A G rs868 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:101911656A>G ENST00000374994.4 + 0 1698 TGFBR1_ENST00000374990.2_3'UTR|TGFBR1_ENST00000552516.1_3'UTR NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 NA NA activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022) ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) TGGGAGGTCAATTGTTCTACC 0.408 NA NA A||| 588 0.117412 0.1467 0.1297 5008 , , NA 16855 0.0129 NA 0.1879 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6738.1, CCDS47998.1 9q22 2014-01-30 2008-07-31 ENSG00000106799 ENSG00000106799 7046 11772 protein-coding gene gene with protein product activin A receptor type II-like kinase, 53kDa 190181 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD), multiple self-healing squamous epithelioma MSSE, ESS1 NA 1319842, 8530052, 21358634 Standard NM_001130916 NA Approved ALK-5, ACVRLK4 uc004azc.3 P36897 OTTHUMG00000020353 ENST00000374994.4:c.*69A>G chr9.hg19:g.101911656A>G NA Q6IR47|Q706C0|Q706C1 hg19 CCDS6738.1 0.02 1.61117 TCAxTTG COVERED NOVEL TGFBR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053390.3 8 23.465773 KEEP 0 0 0 78 2369 AA 1 0.999962 0 + 4 60 140 0 0 8.63715 95 60 2952 260 ENST00000374994.4 0.040404 0.999962 TGFBR1 7046 __UNKNOWN__ __UNKNOWN__ 9 101914873 101914873 __UNKNOWN__ 3'UTR SNP G G C rs420549 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:101914873G>C ENST00000374994.4 + 0 4915 TGFBR1_ENST00000374990.2_3'UTR|TGFBR1_ENST00000552516.1_3'UTR NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 NA NA activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022) ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) ATGGCAAAGAGATCGTTAGAG 0.358 NA NA G||| 542 0.108227 0.115 0.1239 5008 , , NA 22230 0.0129 NA 0.1879 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6738.1, CCDS47998.1 9q22 2014-01-30 2008-07-31 ENSG00000106799 ENSG00000106799 7046 11772 protein-coding gene gene with protein product activin A receptor type II-like kinase, 53kDa 190181 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD), multiple self-healing squamous epithelioma MSSE, ESS1 NA 1319842, 8530052, 21358634 Standard NM_001130916 NA Approved ALK-5, ACVRLK4 uc004azc.3 P36897 OTTHUMG00000020353 ENST00000374994.4:c.*3286G>C chr9.hg19:g.101914873G>C NA Q6IR47|Q706C0|Q706C1 hg19 CCDS6738.1 0.02 1.979455 AGAxATC COVERED NOVEL TGFBR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053390.3 1 8.426128 KEEP 0 0 0 28 939 GG 0.999997 0.984158 0 + 4 60 134 0 0 9.02179 53 60 1843 123 ENST00000374994.4 0.070175 0.984161 GRIN3A 116443 __UNKNOWN__ __UNKNOWN__ 9 104432873 104432873 __UNKNOWN__ Silent SNP T T G rs942142 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:104432873T>G ENST00000361820.3 - 3 2421 c.1821A>C c.(1819-1821)gcA>gcC p.A607A NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 607 NA calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193) CATTTTTCCATGCTCCATACT 0.483 NA NA G||| 1339 0.267372 0.1241 0.3617 5008 , , NA 21363 0.2183 NA 0.4056 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 G 789,3617 752.7+/-412.3 73,643,1487 94 79 84 1821 1.3 1 9 dbSNP_86 84 3550,5050 630.2+/-398.3 726,2098,1476 no coding-synonymous GRIN3A NM_133445.2 799,2741,2963 GG,GT,TT 41.2791,17.9074,33.3615 607/1116 104432873 4339,8667 2203 4300 6503 SO:0001819 synonymous_variant CCDS6758.1 9q31.1 2012-08-29 ENSG00000198785 ENSG00000198785 116443 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 16767 protein-coding gene gene with protein product 606650 NA Standard NM_133445 NA Approved GluN3A uc004bbp.2 Q8TCU5 OTTHUMG00000020387 ENST00000361820.3:c.1821A>C chr9.hg19:g.104432873T>G NA B3DLF9|Q5VTR3|Q8TF29|Q8WXI6 hg19 CCDS6758.1 0.02 1.860028 CCAxGCT COVERED NOVEL GRIN3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053453.1 2 16.243468 KEEP 0 0 0 54 1597 TT 1 0.999487 0 - 4 60 145 0 0 9.492254 77 60 2294 199 ENST00000361820.3 0.049383 0.999487 GRIN3A 116443 __UNKNOWN__ __UNKNOWN__ 9 104433235 104433235 __UNKNOWN__ Missense_Mutation SNP C C T rs10989589 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:104433235C>T ENST00000361820.3 - 3 2059 c.1459G>A c.(1459-1461)Gga>Aga p.G487R NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 487 NA G -> R (in dbSNP:rs10989589). {ECO:0000269|PubMed:11735224, ECO:0000269|PubMed:11880201}. calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193) ACAATCTTTCCCCCCTGCCAG 0.498 NA NA C||| 1329 0.265375 0.1097 0.3617 5008 , , NA 18574 0.2262 NA 0.4076 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 C ARG/GLY 741,3665 303.0+/-287.7 64,613,1526 166 161 163 1459 5.8 0.3 9 dbSNP_120 163 3549,5051 515.9+/-378.7 726,2097,1477 yes missense GRIN3A NM_133445.2 125 790,2710,3003 TT,TC,CC 41.2674,16.818,32.9848 possibly-damaging 487/1116 104433235 4290,8716 2203 4300 6503 SO:0001583 missense CCDS6758.1 9q31.1 2012-08-29 ENSG00000198785 ENSG00000198785 116443 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 16767 protein-coding gene gene with protein product 606650 NA Standard NM_133445 NA Approved GluN3A uc004bbp.2 Q8TCU5 OTTHUMG00000020387 ENST00000361820.3:c.1459G>A chr9.hg19:g.104433235C>T ENSP00000355155:p.Gly487Arg NA B3DLF9|Q5VTR3|Q8TF29|Q8WXI6 hg19 CCDS6758.1 0.02 -0.403545 TTCxCCC COVERED 618 0.28296703296703296 54 0.10975609756097561 147 0.40607734806629836 115 0.20104895104895104 302 0.39841688654353563 C 14.17 2.454432 0.43634 0.16818 0.412674 ENSG00000198785 ENST00000361820 T 0.11277 2.79 5.76 5.76 0.90799 . 0.135566 0.49305 D 0.000160 T 0.00012 0.0000 L 0.56396 1.775 0.09310 P 0.99999884003 P 0.52842 0.956 P 0.56474 0.799 T 0.52697 -0.8541 9 0.48119 T 0.1 . 13.5255 0.61593 0.0:0.9287:0.0:0.0713 rs10989589;rs52814301;rs10989589 487 Q8TCU5 NMD3A_HUMAN R 487 ENSP00000355155:G487R ENSP00000355155:G487R G - 1 0 GRIN3A 103473056 1.000000 0.71417 0.252000 0.24328 0.990000 0.78478 5.989000 0.70587 2.882000 0.98803 0.655000 0.94253 GGA NOVEL GRIN3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053453.1 1 8.728295 KEEP 0 0 0 29 1017 CC 0.999997 0.934489 0 - 3 60 99 1 0 6.517692 43 60 1503 110 ENST00000361820.3 0.065217 0.934492 SMC2 10592 __UNKNOWN__ __UNKNOWN__ 9 106902422 106902422 __UNKNOWN__ 3'UTR SNP C C T rs10991117 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:106902422C>T ENST00000286398.7 + 0 4708 SMC2_ENST00000374793.3_3'UTR NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 NA NA kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 TCATTAACAACCTATTGGTAA 0.323 NA NA C||| 1605 0.320487 0.3525 0.3112 5008 , , NA 15826 0.1736 NA 0.4125 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF092563 CCDS35086.1 9q31.1 2008-05-14 2006-07-06 2006-07-06 ENSG00000136824 ENSG00000136824 10592 Structural maintenance of chromosomes proteins 14011 protein-coding gene gene with protein product 605576 SMC2 (structural maintenance of chromosomes 2, yeast)-like 1, SMC2 structural maintenance of chromosomes 2-like 1 (yeast) SMC2L1 NA 9789013 Standard NM_006444 NA Approved hCAP-E, CAP-E uc011lvl.2 O95347 OTTHUMG00000020401 ENST00000286398.7:c.*826C>T chr9.hg19:g.106902422C>T NA Q6IEE0|Q9P1P2 hg19 CCDS35086.1 0.02 1.537565 CAAxCTA COVERED NOVEL SMC2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053470.1 5 8.728294 KEEP 0 0 0 29 1008 CC 0.999997 0.992091 0 + 4 60 127 0 0 8.172008 58 60 2004 124 ENST00000286398.7 0.064516 0.992094 FKBP15 23307 __UNKNOWN__ __UNKNOWN__ 9 115950724 115950724 __UNKNOWN__ Silent SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:115950724G>A ENST00000238256.3 - 13 1338 c.1221C>T c.(1219-1221)tcC>tcT p.S407S NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 407 NA endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457) actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 AGGGCTGGACGGACGGAGTCA 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 68 70 69 NA NA 9 NA 115950724 2081 4219 6300 SO:0001819 synonymous_variant AB014574 CCDS48007.1 9q33.1 2014-05-09 2006-10-31 2006-10-31 ENSG00000119321 ENSG00000119321 23307 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 23397 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 76, WASP and FKBP-like protein NA KIAA0674 KIAA0674 NA 16756961, 20376207 Standard NM_015258 NM_015258 NA Approved PPP1R76, FKBP133, WAFL uc004bgs.2 Q5T1M5 OTTHUMG00000020518 ENST00000238256.3:c.1221C>T chr9.hg19:g.115950724G>A NA Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0 hg19 CCDS48007.1 0.02 1.438622 GACxGAC COVERED NOVEL FKBP15-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 3 6.922568 KEEP 0 0 0 23 813 GG 0.999892 0.991987 0 - 4 60 126 0 0 8.072967 58 60 1959 127 ENST00000238256.3 0.064516 0.992094 RGS3 5998 __UNKNOWN__ __UNKNOWN__ 9 116222485 116222485 __UNKNOWN__ Intron SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:116222485C>A ENST00000374140.2 + 2 197 NM_001282923.1|NM_144488.4 NP_001269852.1|NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 NA NA inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096) cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 ATAAATTTCACCTTTAACCTT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF006610 CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1 9q32 2008-02-05 2007-08-14 ENSG00000138835 ENSG00000138835 5998 Regulators of G-protein signaling 9999 protein-coding gene gene with protein product 602189 regulator of G-protein signalling 3 NA 8602223, 11034339 Standard NM_017790 NM_001276260 NA Approved C2PA, FLJ20370, PDZ-RGS3 uc004bhq.4 P49796 OTTHUMG00000021048 ENST00000374140.2:c.-12-40C>A chr9.hg19:g.116222485C>A NA A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0 hg19 CCDS43869.1 0.02 1.344592 TCAxCTT COVERED NOVEL RGS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055561.3 11 15.650432 KEEP 0 0 0 52 1793 CC 1 0.999622 0 + 12 60 361 0 0 27.216128 67 60 2334 204 ENST00000374140.2 0.151899 0.999622 GSN 2934 __UNKNOWN__ __UNKNOWN__ 9 124043467 124043467 __UNKNOWN__ Intron SNP G G A rs55684735 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:124043467G>A ENST00000373823.3 + 9 803 GSN_ENST00000394353.2_Intron|GSN_ENST00000373808.2_Intron|RP11-477J21.6_ENST00000437135.1_RNA|GSN-AS1_ENST00000414544.1_RNA|GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000436847.1_Intron P06396 GELS_HUMAN gelsolin NA NA actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726) calcium ion binding (GO:0005509) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 acctgttctggctgacccaaa 0.483 NA NA G||| 966 0.192891 0.3903 0.1268 5008 , , NA 21707 0.0595 NA 0.1918 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X04412 CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1 9q33 2010-04-27 2010-04-27 ENSG00000148180 ENSG00000148180 2934 4620 protein-coding gene gene with protein product amyloidosis, Finnish type 137350 gelsolin (amyloidosis, Finnish type) NA 1652889 Standard NM_000177 NM_001127662 NA Approved DKFZp313L0718 uc004blf.1 P06396 OTTHUMG00000020584 ENST00000373823.3:c.-102-281G>A chr9.hg19:g.124043467G>A NA A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7 hg19 CCDS6829.1 0.02 1.347438 CTGxCTG COVERED NOVEL GSN-013 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254323.3 8 12.338538 KEEP 0 0 0 41 1401 GG 1 0.99993 0 + 5 60 158 0 0 9.710932 89 60 3080 192 ENST00000373823.3 0.053191 0.99993 ZBTB34 403341 __UNKNOWN__ __UNKNOWN__ 9 129642921 129642921 __UNKNOWN__ Missense_Mutation SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:129642921C>T ENST00000319119.4 + 2 1328 c.1243C>T c.(1243-1245)Cgg>Tgg p.R415W ZBTB34_ENST00000373452.2_Missense_Mutation_p.R411W NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 411 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 GAAGTACACACGGAAGGACCA 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 75 76 76 NA NA 9 NA 129642921 1993 4169 6162 SO:0001583 missense DQ227306 CCDS48023.1 9q33.3 2013-01-08 ENSG00000177125 ENSG00000177125 403341 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 31446 protein-coding gene gene with protein product 611692 NA 16718364 Standard NM_001099270 NM_001099270 NA Approved KIAA1993, MGC24652, ZNF918 uc004bqm.4 Q8NCN2 OTTHUMG00000020694 ENST00000319119.4:c.1243C>T chr9.hg19:g.129642921C>T ENSP00000317534:p.Arg415Trp NA Q38IA7|Q5VYE9 hg19 0.02 1.085141 ACAxGGA COVERED . . . . . . . . . . C 16.32 3.090947 0.55968 . . ENSG00000177125 ENST00000319119;ENST00000373452 T;T 0.07444 3.19;3.19 5.88 3.94 0.45596 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.85682 D 0.000000 T 0.23611 0.0571 L 0.60957 1.885 0.54753 D 0.99998 D 0.89917 1.0 D 0.78314 0.991 T 0.01428 -1.1357 10 0.32370 T 0.25 . 15.1418 0.72615 0.2575:0.7425:0.0:0.0 . 411 Q8NCN2 ZBT34_HUMAN W 415;411 ENSP00000317534:R415W;ENSP00000362551:R411W ENSP00000317534:R415W R + 1 2 ZBTB34 128682742 0.998000 0.40836 0.923000 0.36655 0.996000 0.88848 3.778000 0.55371 1.444000 0.47605 0.655000 0.94253 CGG NOVEL ZBTB34-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000054128.1 0 13.241936 KEEP 0 0 0 44 1487 CC 1 0.999881 0 + 5 60 152 0 0 9.208939 85 60 2832 187 ENST00000319119.4 0.055556 0.999881 SH2D3C 10044 __UNKNOWN__ __UNKNOWN__ 9 130536717 130536717 __UNKNOWN__ Missense_Mutation SNP G G A rs10760500 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:130536717G>A ENST00000314830.8 - 2 180 c.67C>T c.(67-69)Ctc>Ttc p.L23F NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 23 NA L -> F (in dbSNP:rs10760500). JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|membrane (GO:0016020) guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGGTTGGAGAGACTCCCAAAG 0.478 NA NA G||| 2686 0.536342 0.208 0.5101 5008 , , NA 19251 0.8988 NA 0.5249 False NA ,,, NA NA NA 2504 0.637 NA NA NA NA 0 G PHE/LEU 1181,3225 413.9+/-336.6 157,867,1179 56 53 54 67 3.2 1 9 dbSNP_120 54 4838,3762 614.2+/-396.2 1335,2168,797 yes missense SH2D3C NM_170600.2 22 1492,3035,1976 AA,AG,GG 43.7442,26.8044,46.2786 probably-damaging 23/861 130536717 6019,6987 2203 4300 6503 SO:0001583 missense AF124251 CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1 9q33.1-q33.3 2013-02-14 2002-01-14 ENSG00000095370 ENSG00000095370 10044 SH2 domain containing 16884 protein-coding gene gene with protein product 604722 SH2 domain-containing 3C NA 10187783 Standard NM_005489 NM_170600 NA Approved NSP3 uc004bsc.3 Q8N5H7 OTTHUMG00000020717 ENST00000314830.8:c.67C>T chr9.hg19:g.130536717G>A ENSP00000317817:p.Leu23Phe NA A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5 hg19 CCDS6877.1 0.02 2.971032 AGAxACT COVERED 1207 0.5526556776556777 117 0.23780487804878048 179 0.494475138121547 518 0.9055944055944056 393 0.5184696569920845 G 17.61 3.432706 0.62844 0.268044 0.562558 ENSG00000095370 ENST00000314830 T 0.23552 1.9 5.03 3.19 0.36642 . 0.195247 0.28187 N 0.016277 T 0.00012 0.0000 N 0.20986 0.625 0.09310 P 0.9999999999994148 B 0.14012 0.009 B 0.15052 0.012 T 0.10847 -1.0612 9 0.87932 D 0 -0.0099 8.8792 0.35365 0.1764:0.0:0.8236:0.0 rs10760500;rs52790152;rs61291828;rs10760500 23 Q8N5H7 SH2D3_HUMAN F 23 ENSP00000317817:L23F ENSP00000317817:L23F L - 1 0 SH2D3C 129576538 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 4.487000 0.60293 0.645000 0.30675 0.561000 0.74099 CTC NOVEL SH2D3C-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000054264.1 3 21.36785 KEEP 0 0 0 71 2416 GG 1 0.999981 0 - 7 60 204 0 0 12.677978 95 60 3242 251 ENST00000314830.8 0.068627 0.999981 NUP188 23511 __UNKNOWN__ __UNKNOWN__ 9 131752505 131752505 __UNKNOWN__ Splice_Site SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:131752505G>A ENST00000372577.2 + 25 2661 c.2640G>A c.(2638-2640)acG>acA p.T880T NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 880 NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GTCTGGCCACGGTAGGATCGT 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 302 254 270 NA NA 9 NA 131752505 2203 4300 6503 SO:0001630 splice_region_variant D79991 CCDS35156.1 9q34.13 2014-01-28 2004-03-19 2004-03-24 ENSG00000095319 ENSG00000095319 23511 17859 protein-coding gene gene with protein product 615587 KIAA0169 KIAA0169 NA 11029043 Standard NM_015354 NA Approved uc004bws.2 Q5SRE5 OTTHUMG00000020768 ENST00000372577.2:c.2640+1G>A chr9.hg19:g.131752505G>A NA Q14675|Q2TA87|Q7Z3K8|Q8IWF1 hg19 CCDS35156.1 0.02 1.24546 CACxGTA COVERED NOVEL NUP188-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054529.2 7 11.737724 KEEP 0 0 0 39 1335 GG 1 0.999622 0 Silent + 6 60 179 0 0 11.354441 79 60 2676 180 ENST00000372577.2 0.070588 0.999622 PTGES 9536 __UNKNOWN__ __UNKNOWN__ 9 132501712 132501712 __UNKNOWN__ 3'UTR SNP T T C rs1134679 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:132501712T>C ENST00000340607.4 - 0 671 PTGES_ENST00000481476.1_5'UTR NM_004878.4 NP_004869.1 O14684 PTGES_HUMAN prostaglandin E synthase NA NA acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471) glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220) lung(1)|skin(1) 2 Ovarian(14;0.00556) cacacacacatacacacacac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF010316 CCDS6927.1 9q34.3 2008-07-21 ENSG00000148344 ENSG00000148344 9536 9599 protein-coding gene gene with protein product microsomal glutathione S-transferase 1-like 1, tumor protein p53 inducible protein 12, p53-induced gene 12, microsomal prostaglandin E synthase-1, glutathione S-transferase 1-like 1, MGST1-like 1 605172 MGST1L1 NA 9305847, 10091672 Standard NM_004878 NM_004878 NA Approved MGST-IV, PIG12, MGST1-L1, TP53I12 uc004byi.3 O14684 OTTHUMG00000020791 ENST00000340607.4:c.*178A>G chr9.hg19:g.132501712T>C NA O14900|Q5SZC0 hg19 CCDS6927.1 0.02 3.79303 ACAxACA COVERED NOVEL PTGES-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054599.2 25 14.739992 KEEP 0 0 0 49 1411 TT 1 1 0 - 7 60 233 0 1 14.864928 121 70 3373 252 ENST00000340607.4 0.054687 1 CACFD1 11094 __UNKNOWN__ __UNKNOWN__ 9 136335349 136335349 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:136335349A>G ENST00000316948.4 + 0 2173 CACFD1_ENST00000291722.7_3'UTR NM_017586.3 NP_060056.1 Q9UGQ2 FLOWR_HUMAN calcium channel flower domain containing 1 NA NA synaptic vesicle endocytosis (GO:0048488) integral component of synaptic vesicle membrane (GO:0030285) calcium channel activity (GO:0005262) NA gtgtgtgtgtatgtatatgtg 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1 9q34 2012-03-06 2012-03-06 2012-03-06 ENSG00000160325 ENSG00000160325 11094 1365 protein-coding gene gene with protein product 613104 chromosome 9 open reading frame 7 C9orf7 NA 19737521 Standard NM_017586 NM_001242370 NA Approved D9S2135, flower uc011mdh.1 Q9UGQ2 OTTHUMG00000020875 ENST00000316948.4:c.*1574A>G chr9.hg19:g.136335349A>G NA B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6 hg19 CCDS6974.1 0.02 1.871969 TGTxTGT COVERED NOVEL CACFD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054915.1 15 2.816972 KEEP 0 1 36 22 593 AA 0.999892 0.986047 0 + 5 60 177 1 0 12.943515 47 60 1283 108 ENST00000316948.4 0.096154 0.986153 CACNA1B 774 __UNKNOWN__ __UNKNOWN__ 9 141018042 141018042 __UNKNOWN__ 3'UTR SNP C C G rs199664747 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr9:141018042C>G ENST00000371372.1 + 0 8756 CACNA1B_ENST00000371363.1_3'UTR|CACNA1B_ENST00000371355.4_3'UTR|CACNA1B_ENST00000371357.1_3'UTR|CACNA1B_ENST00000277549.5_3'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit NA NA calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810) dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661) gtgtgtgtgtctgtgtCACAG 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209467 CCDS59522.1, CCDS59523.1 9q34 2013-01-10 2007-02-16 ENSG00000148408 ENSG00000148408 774 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1389 protein-coding gene gene with protein product 601012 CACNL1A5 NA 8825650, 16382099 Standard NM_000718 NM_000718 NA Approved Cav2.2, CACNN uc004cog.3 Q00975 OTTHUMG00000021002 ENST00000371372.1:c.*1591C>G chr9.hg19:g.141018042C>G NA B1AQK5 hg19 CCDS59522.1 0.02 -0.33332 TGTxTGT COVERED NOVEL CACNA1B-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055380.1 5 2.708799 KEEP 0 0 0 9 316 AC 0.992708 0.845771 0 + 3 60 94 1 0 6.315485 34 70 1158 65 ENST00000371372.1 0.081081 0.851984 CAMK1D 57118 __UNKNOWN__ __UNKNOWN__ 10 12873463 12873463 __UNKNOWN__ 3'UTR SNP A A G rs1644395 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:12873463A>G ENST00000378847.3 + 0 4072 NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID NA NA inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622) calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) CAGCATTTGAAGCTGAGTTCC 0.403 NA NA A||| 1826 0.364617 0.4478 0.2882 5008 , , NA 23668 0.2887 NA 0.2982 False NA ,,, NA NA NA 2504 0.453 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF286366 CCDS7091.1, CCDS7092.1 10p13 2003-11-05 ENSG00000183049 ENSG00000183049 57118 19341 protein-coding gene gene with protein product 607957 NA 11050006 Standard NM_020397 XM_006717481 NA Approved CKLiK uc001ilo.3 Q8IU85 OTTHUMG00000017683 ENST00000378847.3:c.*2577A>G chr10.hg19:g.12873463A>G NA B0YIY0|Q9HD31 hg19 CCDS7091.1 0.02 -0.403401 TGAxGCT COVERED NOVEL CAMK1D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046820.1 2 4.511197 KEEP 0 0 0 15 455 AA 0.99649 0.931212 0 + 3 60 103 0 0 6.917644 43 60 1304 75 ENST00000378847.3 0.065217 0.934492 PLXDC2 84898 __UNKNOWN__ __UNKNOWN__ 10 20357183 20357183 __UNKNOWN__ Intron SNP A A G rs7072650 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:20357183A>G ENST00000377252.4 + 4 1382 PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_Intron NM_001282736.1|NM_032812.7 NP_001269665.1|NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 NA NA multicellular organismal development (GO:0007275) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 GTGGTTTTCTACCCATTCACC 0.363 NA NA A||| 1111 0.221845 0.0234 0.3602 5008 , , NA 14165 0.3036 NA 0.2068 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 A 253,4153 145.7+/-180.5 10,233,1960 67 62 63 0 0.8 10 dbSNP_116 63 1732,6868 313.7+/-311.4 164,1404,2732 no intron PLXDC2 NM_032812.7 174,1637,4692 GG,GA,AA 20.1395,5.7422,15.2622 20357183 1985,11021 2203 4300 6503 SO:0001627 intron_variant AF378757 CCDS7132.1, CCDS60497.1 10p12.33 2006-04-12 ENSG00000120594 ENSG00000120594 84898 21013 protein-coding gene gene with protein product tumor endothelial marker 7-related precursor 606827 NA 11559528 Standard NM_032812 NM_001282736 NA Approved TEM7R, FLJ14623 uc001iqg.1 Q6UX71 OTTHUMG00000017781 ENST00000377252.4:c.541+15A>G chr10.hg19:g.20357183A>G NA Q96E59|Q96PD9|Q96SU9 hg19 CCDS7132.1 0.02 1.941374 TCTxCCC COVERED NOVEL PLXDC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047101.2 2 8.724066 KEEP 0 0 0 29 842 AA 0.999997 0.963771 0 + 4 60 141 0 0 9.921862 47 60 1313 120 ENST00000377252.4 0.078431 0.963774 NEBL 10529 __UNKNOWN__ __UNKNOWN__ 10 21074455 21074455 __UNKNOWN__ 3'UTR SNP T T C rs2296613 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:21074455T>C ENST00000417816.2 - 0 1387 NEBL_ENST00000377159.4_3'UTR|NEBL_ENST00000377122.4_3'UTR NM_001173484.1|NM_213569.2 NP_001166955.1|NP_998734.1 O76041 NEBL_HUMAN nebulette NA NA cardiac muscle thin filament assembly (GO:0071691) extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018) actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CAGCACCAGGTGTCCAGACAC 0.398 NA NA T||| 1467 0.292931 0.1672 0.1974 5008 , , NA 18200 0.4395 NA 0.2684 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y16241 CCDS7133.1, CCDS7134.1 10p12 2014-09-17 ENSG00000078114 ENSG00000078114 10529 16932 protein-coding gene gene with protein product 605491 NA 9733644, 10470015 Standard NM_006393 NM_213569 NA Approved uc001iqi.3 O76041 OTTHUMG00000017788 ENST00000417816.2:c.*221A>G chr10.hg19:g.21074455T>C NA B0YJ45|Q2TBD0|Q70I54|Q9UIC4 hg19 CCDS7133.1 0.02 -0.3245 AGGxGTC COVERED NOVEL NEBL-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047112.1 1 6.318643 KEEP 0 0 0 21 642 TT 0.999869 0.835607 0 - 3 60 104 0 0 7.311406 34 60 1036 84 ENST00000417816.2 0.081081 0.835716 PTF1A 256297 __UNKNOWN__ __UNKNOWN__ 10 23482071 23482071 __UNKNOWN__ Silent SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:23482071G>T ENST00000376504.3 + 1 816 c.612G>T c.(610-612)acG>acT p.T204T NM_178161.2 NP_835455.1 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 204 bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}. NA amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565) endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 AGGTGGACACGCTGCGCCTGG 0.721 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 7 4 5 NA NA 10 NA 23482071 1794 3580 5374 SO:0001819 synonymous_variant BK000272 CCDS7143.1 10p12.31 2013-05-21 ENSG00000168267 ENSG00000168267 256297 Basic helix-loop-helix proteins 23734 protein-coding gene gene with protein product 607194 NA 8703005 Standard NM_178161 NM_178161 NA Approved PTF1-p48, bHLHa29 uc001irp.3 Q7RTS3 OTTHUMG00000017815 ENST00000376504.3:c.612G>T chr10.hg19:g.23482071G>T NA Q9HC25 hg19 CCDS7143.1 0.02 1.34457 CACxCTG COVERED NOVEL PTF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047210.1 0 13.310839 KEEP 0 2 53 63 2182 GG 1 0.999622 0 + 8 60 243 0 0 16.60978 77 60 2738 234 ENST00000376504.3 0.094118 0.999622 THNSL1 79896 __UNKNOWN__ __UNKNOWN__ 10 25312168 25312168 __UNKNOWN__ Nonsense_Mutation SNP C C T rs145170378 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:25312168C>T ENST00000524413.1 + 3 363 c.16C>T c.(16-18)Cga>Tga p.R6* THNSL1_ENST00000376356.4_Nonsense_Mutation_p.R6* Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 6 NA cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156) CCACTTTAACCGATGTCATCA 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C stop/ARG 2,4404 4.2+/-10.8 0,2,2201 61 63 62 16 4 1 10 dbSNP_134 62 1,8599 1.2+/-3.3 0,1,4299 yes stop-gained THNSL1 NM_024838.4 0,3,6500 TT,TC,CC 0.0116,0.0454,0.0231 6/744 25312168 3,13003 2203 4300 6503 SO:0001587 stop_gained AK025655 CCDS7147.1 10p12.31 2008-02-05 2007-06-20 ENSG00000185875 ENSG00000185875 79896 26160 protein-coding gene gene with protein product 611260 threonine synthase-like 1 (bacterial) NA 12477932 Standard NM_024838 NM_024838 NA Approved FLJ22002 uc001isi.4 Q8IYQ7 OTTHUMG00000017828 ENST00000524413.1:c.16C>T chr10.hg19:g.25312168C>T ENSP00000434887:p.Arg6* NA B3KWL1|D3DRV3|Q5VV21 hg19 CCDS7147.1 0.02 3.174537 AACxGAT COVERED . . . . . . . . . . C 37 6.235738 0.97399 4.54E-4 1.16E-4 ENSG00000185875 ENST00000524413;ENST00000376356 . . . 5.94 4.0 0.46444 . 0.277723 0.25744 N 0.028581 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 4.4752 5.7108 0.17933 0.1496:0.6417:0.1354:0.0733 . . . . X 6 . ENSP00000365534:R6X R + 1 2 THNSL1 25352174 0.543000 0.26434 0.961000 0.40146 0.642000 0.38348 0.746000 0.26275 0.772000 0.33382 0.557000 0.71058 CGA NOVEL THNSL1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394913.1 3 22.873065 KEEP 0 0 0 76 2616 CC 1 1 0 + 5 60 162 0 0 9.47788 120 60 3971 291 ENST00000524413.1 0.04 1 MARCH8 220972 __UNKNOWN__ __UNKNOWN__ 10 45958981 45958981 __UNKNOWN__ Intron SNP C C T rs145714792 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:45958981C>T ENST00000319836.3 - 4 992 MARCH8_ENST00000395771.3_Intron|MARCH8_ENST00000395769.2_Intron|MARCH8_ENST00000453424.2_Missense_Mutation_p.G236R NM_145021.4 NP_659458.2 Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase NA NA immune system process (GO:0002376)|protein polyubiquitination (GO:0000209) cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 GGCCTGCCCCCCTTGCCAGCT 0.582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(102;658 1594 2173 16344 34808) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833316 CCDS7213.1, CCDS60519.1 10q11.22 2013-01-09 2012-02-23 2005-01-27 ENSG00000165406 ENSG00000165406 220972 MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers 23356 protein-coding gene gene with protein product 613335 c-mir, cellular modulator of immune recognition, membrane-associated ring finger (C3HC4) 8 MIR NA 12582153, 14722266 Standard NM_145021 XM_005271804 NA Approved c-MIR, MARCH-VIII, RNF178 uc001jch.2 Q5T0T0 OTTHUMG00000019345 ENST00000319836.3:c.242+705G>A chr10.hg19:g.45958981C>T NA B2R8E7|H0Y7C6|Q5T0S8|Q8TC72 hg19 CCDS7213.1 0.02 7.820886 CCCxCTT COVERED . . . . . . . . . . C 0.042 -1.279611 0.01410 . . ENSG00000165406 ENST00000453424 . . . 5.52 1.57 0.23409 . 1.138890 0.06297 N 0.700174 T 0.34948 0.0915 . . . 0.24548 N 0.994037 . . . . . . T 0.35251 -0.9796 5 . . . -4.3363 9.0189 0.36186 0.0:0.6274:0.232:0.1405 . . . . E 118 . . G - 2 0 MARCH8 45278987 0.000000 0.05858 0.001000 0.08648 0.005000 0.04900 -0.172000 0.09868 -0.176000 0.10707 -1.872000 0.00552 GGG NOVEL MARCH8-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051217.1 5 11.31929 KEEP 0 11 346 159 5566 CC 1 1 0 - 16 60 501 0 0 31.490825 250 60 8782 626 ENST00000319836.3 0.06015 1 ERCC6 2074 __UNKNOWN__ __UNKNOWN__ 10 50683438 50683438 __UNKNOWN__ Intron SNP T T C rs4838522 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:50683438T>C ENST00000355832.5 - 12 2461 ERCC6_ENST00000542458.1_Intron NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementation group 6 NA NA activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296) breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 tagtttgcattccctttcctg 0.328 NA NA Direct reversal of damage;Nucleotide excision repair (NER) T||| 720 0.14377 0.1059 0.1441 5008 , , NA 15614 0.1488 NA 0.1014 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L04791 CCDS7229.1 10q11 2014-09-17 2014-03-07 ENSG00000225830 ENSG00000225830 2074 3438 protein-coding gene gene with protein product Cockayne syndrome B protein 609413 excision repair cross-complementing rodent repair deficiency, complementation group 6 CKN2 NA 1339317, 19179336 Standard NM_000124 NM_000124 NA Approved CSB, RAD26, ARMD5 uc001jhs.5 Q03468 OTTHUMG00000018195 ENST00000355832.5:c.2382+822A>G chr10.hg19:g.50683438T>C NA D3DX94|Q5W0L9 hg19 CCDS7229.1 0.02 1.58741 CATxCCC COVERED NOVEL ERCC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047990.1 10 11.129824 KEEP 0 0 0 37 1090 TT 1 0.999218 0 - 4 60 137 0 0 8.737982 75 60 2233 156 ENST00000355832.5 0.050633 0.999218 PCDH15 65217 __UNKNOWN__ __UNKNOWN__ 10 55566406 55566406 __UNKNOWN__ Missense_Mutation SNP T T G rs17704703 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:55566406T>G ENST00000373965.2 - 36 5382 c.4988A>C c.(4987-4989)cAg>cCg p.Q1663P PCDH15_ENST00000414778.1_Missense_Mutation_p.Q1660P NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 NA equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202) calcium ion binding (GO:0005509) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATCATCAGACTGTGTGTGGTC 0.388 NA NA HNSCC(58;0.16) T||| 552 0.110224 0.0144 0.1614 5008 , , NA 15834 0.005 NA 0.2724 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 T PRO/GLN,PRO/GLN 191,2945 5,181,1382 198 164 174 4982,4967 3.6 1 10 dbSNP_123 174 2114,5050 328,1458,1796 yes missense,missense PCDH15 NM_001142771.1,NM_001142772.1 76,76 333,1639,3178 GG,GT,TT 29.5087,6.0906,22.3786 , 1661/1683,1656/1678 55566406 2305,7995 1568 3582 5150 SO:0001583 missense AY029205 CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1 10q21.1 2013-01-08 2010-01-25 ENSG00000150275 ENSG00000150275 65217 Cadherins / Cadherin-related 14674 protein-coding gene gene with protein product cadherin-related family member 15 605514 deafness, autosomal recessive 23, protocadherin 15 USH1F, DFNB23 NA 11398101, 14570705 Standard NM_033056 NM_033056 NA Approved CDHR15 uc010qhy.1 Q96QU1 OTTHUMG00000018259 ENST00000373965.2:c.4988A>C chr10.hg19:g.55566406T>G ENSP00000363076:p.Gln1663Pro NA A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8 hg19 0.02 1.777812 GACxGTG COVERED 272 0.12454212454212454 10 0.02032520325203252 66 0.18232044198895028 1 0.0017482517482517483 195 0.25725593667546176 T 5.093 0.202747 0.09652 0.060906 0.295087 ENSG00000150275 ENST00000373965;ENST00000414778;ENST00000455746 T;T 0.59638 0.25;0.29 6.02 3.61 0.41365 . . . . . T 0.00012 0.0000 N 0.21448 0.665 0.09310 P 0.9999999999809907 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.20672 -1.0268 8 0.17369 T 0.5 . 12.601 0.56497 0.0:0.0:0.271:0.729 rs17704703;rs52791503;rs56574759;rs17704703 1654;1660 C6ZEF7;C9J4F3 .;. P 1663;1660;1656 ENSP00000363076:Q1663P;ENSP00000410304:Q1660P ENSP00000363076:Q1663P Q - 2 0 PCDH15 55236412 1.000000 0.71417 0.957000 0.39632 0.766000 0.43426 1.590000 0.36654 0.476000 0.27440 0.533000 0.62120 CAG NOVEL PCDH15-008 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000291336.1 4 13.839941 KEEP 0 0 0 46 1403 TT 1 0.999317 0 - 4 60 132 0 0 8.218235 76 60 2323 178 ENST00000373965.2 0.05 0.999317 RHOBTB1 9886 __UNKNOWN__ __UNKNOWN__ 10 62629904 62629904 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:62629904A>G ENST00000337910.5 - 0 3764 RHOBTB1_ENST00000357917.4_3'UTR NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|plasma membrane (GO:0005886) GTP binding (GO:0005525) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) CTGTGTGTGTATGTGTGTGCT 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018283 CCDS7261.1 10q22.1 2013-01-08 ENSG00000072422 ENSG00000072422 9886 BTB/POZ domain containing 18738 protein-coding gene gene with protein product 607351 NA 11222756 Standard NM_014836 NA Approved KIAA0740 uc001jlh.3 O94844 OTTHUMG00000018292 ENST00000337910.5:c.*1336T>C chr10.hg19:g.62629904A>G NA hg19 CCDS7261.1 0.02 1.651988 TGTxTGT COVERED NOVEL RHOBTB1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048220.1 15 9.922704 KEEP 0 0 0 33 933 AA 0.999998 0.99962 0 - 4 60 139 0 1 8.937937 75 60 2128 157 ENST00000337910.5 0.050633 0.999622 RTKN2 219790 __UNKNOWN__ __UNKNOWN__ 10 63958112 63958112 __UNKNOWN__ Missense_Mutation SNP T T C rs3125734 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:63958112T>C ENST00000373789.3 - 12 1481 c.1385A>G c.(1384-1386)cAt>cGt p.H462R RTKN2_ENST00000315289.2_Missense_Mutation_p.H264R|RTKN2_ENST00000395265.1_Missense_Mutation_p.H483R NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 462 NA H -> R (in dbSNP:rs3125734). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165) plasma membrane (GO:0005886) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) GGATTCTTCATGCTGACCAAT 0.373 NA NA T||| 2949 0.588858 0.3132 0.7017 5008 , , NA 17108 0.8998 NA 0.6362 False NA ,,, NA NA NA 2504 0.5123 NA NA NA NA 0 T ARG/HIS 1687,2719 510.9+/-367.7 336,1015,852 106 106 106 1385 2.3 0.9 10 dbSNP_103 106 5514,3086 660.1+/-401.7 1751,2012,537 yes missense RTKN2 NM_145307.2 29 2087,3027,1389 CC,CT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 35.8837,38.2887,44.6332 benign 462/610 63958112 7201,5805 2203 4300 6503 SO:0001583 missense BC025765 CCDS7263.1, CCDS73140.1 10q21.3 2013-01-10 2007-12-14 2007-12-14 ENSG00000182010 ENSG00000182010 219790 Pleckstrin homology (PH) domain containing 19364 protein-coding gene gene with protein product NA pleckstrin homology domain containing, family K member 1 PLEKHK1 NA 15504364 Standard NM_145307 NM_001282941 NA Approved Em:AC024597.2, bA531F24.1, FLJ39352 uc001jlw.3 Q8IZC4 OTTHUMG00000018299 ENST00000373789.3:c.1385A>G chr10.hg19:g.63958112T>C ENSP00000362894:p.His462Arg NA Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2 hg19 CCDS7263.1 0.02 3.824722 TCAxGCT COVERED 1416 0.6483516483516484 169 0.3434959349593496 243 0.6712707182320442 521 0.9108391608391608 483 0.637203166226913 T 1.595 -0.528166 0.04112 0.382887 0.641163 ENSG00000182010 ENST00000315289;ENST00000395265;ENST00000373789 T;T;T 0.40756 1.02;1.61;1.63 4.7 2.33 0.28932 . 0.503008 0.22698 N 0.056732 T 0.00012 0.0000 L 0.28274 0.84 0.43355 P 0.0045720000000000205 B;B 0.06786 0.001;0.0 B;B 0.04013 0.001;0.0 T 0.12243 -1.0555 9 0.40728 T 0.16 -13.7601 9.1159 0.36758 0.0:0.1528:0.0:0.8472 rs3125734;rs17573659;rs52835455;rs59388121;rs3125734 264;462 Q5SVY4;Q8IZC4 .;RTKN2_HUMAN R 264;483;462 ENSP00000325379:H264R;ENSP00000378682:H483R;ENSP00000362894:H462R ENSP00000325379:H264R H - 2 0 RTKN2 63628118 0.909000 0.30893 0.949000 0.38748 0.915000 0.54546 1.674000 0.37544 0.379000 0.24794 0.533000 0.62120 CAT NOVEL RTKN2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091618.1 6 14.074755 KEEP 0 1 26 56 1722 TT 1 0.999999 0 - 6 60 203 0 0 12.825649 114 60 3386 248 ENST00000373789.3 0.05 0.999999 EIF5AL1 143244 __UNKNOWN__ __UNKNOWN__ 10 81273251 81273251 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:81273251T>C ENST00000520547.2 + 0 895 NM_001099692.1 NP_001093162.1 Q6IS14 IF5AL_HUMAN eukaryotic translation initiation factor 5A-like 1 NA NA mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452) endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643) ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746) endometrium(1) 1 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CCACTCATCCTTGGTCTGGTC 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS53546.1 10q22.3 2012-04-19 ENSG00000253626 ENSG00000253626 143244 17419 protein-coding gene gene with protein product NA eukaryotic translation initiation factor 5A pseudogene 1 EIF5AP1 NA Standard NM_001099692 NM_001099692 NA Approved bA342M3.3 uc009xrx.3 Q6IS14 OTTHUMG00000018563 ENST00000520547.2:c.*381T>C chr10.hg19:g.81273251T>C NA hg19 CCDS53546.1 0.02 3.850667 TCCxTGG COVERED NOVEL EIF5AL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048954.4 13 6.391506 KEEP 71 5 177 83 2568 TT 1 0.999998 0 + 5 21 176 0 0 11.020316 112 60 3434 369 ENST00000520547.2 0.042735 0.999998 NRG3 10718 __UNKNOWN__ __UNKNOWN__ 10 84745256 84745256 __UNKNOWN__ Silent SNP C C T rs2295933 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:84745256C>T ENST00000372141.2 + 9 2013 c.1986C>T c.(1984-1986)agC>agT p.S662S NRG3_ENST00000537893.1_Silent_p.S312S|NRG3_ENST00000545131.1_Silent_p.S312S|NRG3_ENST00000404547.1_Silent_p.S686S|NRG3_ENST00000372142.2_Silent_p.S465S|NRG3_ENST00000556918.1_Silent_p.S492S|NRG3_ENST00000404576.2_Silent_p.S466S NM_001010848.3|NM_001165972.1 NP_001010848.2|NP_001159444.1 P56975 NRG3_HUMAN neuregulin 3 686 NA activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) ACAGTGCAAGCGAAAACACAG 0.483 NA NA C||| 2352 0.469649 0.4236 0.4438 5008 , , NA 17216 0.6637 NA 0.3439 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 C ,, 1867,2539 538.7+/-375.1 389,1089,725 80 73 75 1986,1983,1395 0.6 1 10 dbSNP_100 75 2565,6035 418.3+/-352.7 386,1793,2121 no coding-synonymous,coding-synonymous,coding-synonymous NRG3 NM_001010848.3,NM_001165972.1,NM_001165973.1 ,, 775,2882,2846 TT,TC,CC 29.8256,42.374,34.0766 ,, 662/697,661/696,465/500 84745256 4432,8574 2203 4300 6503 SO:0001819 synonymous_variant AK098823 CCDS31233.1, CCDS53547.1 10q22-q23 2003-09-09 ENSG00000185737 ENSG00000185737 10718 7999 protein-coding gene gene with protein product 605533 NA 9275162 Standard XM_166086 NM_001010848 NA Approved uc001kco.2 P56975 OTTHUMG00000018626 ENST00000372141.2:c.1986C>T chr10.hg19:g.84745256C>T NA A4D7U1|Q0PEH2|Q5VYH3 hg19 CCDS31233.1 0.02 1.085115 AAGxGAA COVERED NOVEL NRG3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412261.1 6 21.045659 KEEP 0 0 0 70 2344 CC 1 0.999881 0 + 5 60 144 0 0 8.364793 87 60 2993 226 ENST00000372141.2 0.054348 0.999881 LDB3 11155 __UNKNOWN__ __UNKNOWN__ 10 88492293 88492293 __UNKNOWN__ Intron SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:88492293A>C ENST00000361373.4 + 13 2115 LDB3_ENST00000263066.6_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron NM_007078.2 NP_009009.1 LIM domain binding 3 NA NA breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 Cagtcttgctatgttgcccag 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014513 CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1 10q22.3-q23.2 2014-09-17 ENSG00000122367 ENSG00000122367 11155 15710 protein-coding gene gene with protein product cypher, oracle, Z-band alternatively spliced PDZ motif protein 605906 cardiomyopathy, dilated 1C (autosomal dominant) CMD1C NA 10427098, 23271734, 23996002, 14662268 Standard NM_001080114 NA Approved PDLIM6, KIAA0613, ZASP uc001kdv.3 O75112 OTTHUMG00000018655 ENST00000361373.4:c.2095-351A>C chr10.hg19:g.88492293A>C NA hg19 CCDS7377.1 0.02 -0.350717 GCTxTGT COVERED NOVEL LDB3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000049160.2 5 5.716153 KEEP 0 0 0 19 563 AA 0.99986 0.877585 0 + 3 60 110 0 0 7.874737 35 60 1019 91 ENST00000361373.4 0.078947 0.877708 ATAD1 84896 __UNKNOWN__ __UNKNOWN__ 10 89514067 89514067 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:89514067G>A ENST00000308448.7 - 0 1841 ATAD1_ENST00000328142.3_3'UTR|ATAD1_ENST00000400215.3_3'UTR NM_032810.2 NP_116199.2 Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 NA NA ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092) cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|ATPase activity (GO:0016887) kidney(1)|large_intestine(4)|lung(4)|ovary(1) 10 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) atacatacacgcacacacaca 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL834370 CCDS7386.1 10q23.31 2010-04-21 2007-02-08 ENSG00000138138 ENSG00000138138 84896 ATPases / AAA-type 25903 protein-coding gene gene with protein product 614452 NA 12477932 Standard NM_032810 NM_032810 NA Approved FLJ14600 uc001kez.1 Q8NBU5 OTTHUMG00000018685 ENST00000308448.7:c.*377C>T chr10.hg19:g.89514067G>A NA D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3 hg19 CCDS7386.1 0.02 4.429435 CACxCAC COVERED NOVEL ATAD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049235.1 41 10.539087 KEEP 0 3 97 69 2393 GG 1 1 0 - 8 60 228 1 0 13.058992 143 60 4850 341 ENST00000308448.7 0.05298 1 IFIT3 3437 __UNKNOWN__ __UNKNOWN__ 10 91100068 91100068 __UNKNOWN__ 3'UTR SNP C C A rs10887948 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:91100068C>A ENST00000371818.4 + 0 1836 LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_3'UTR|LIPA_ENST00000487618.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 NA NA cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739) identical protein binding (GO:0042802) breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 gtaatcccagcactttgggag 0.483 NA NA C||| 1867 0.372804 0.3109 0.2752 5008 , , NA 16624 0.5714 NA 0.2455 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U52513 CCDS7402.1, CCDS31241.1 10q23.31 2014-05-22 2004-07-16 2004-07-16 ENSG00000119917 ENSG00000119917 3437 Tetratricopeptide (TTC) repeat domain containing 5411 protein-coding gene gene with protein product 604650 interferon-induced protein with tetratricopeptide repeats 4 IFIT4 NA 9828129, 9391139 Standard NM_001549 NM_001031683 NA Approved ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2 uc001kgg.3 O14879 OTTHUMG00000018708 ENST00000371818.4:c.*183C>A chr10.hg19:g.91100068C>A NA Q99634|Q9BSK7 hg19 CCDS7402.1 0.02 -0.245194 CAGxACT COVERED NOVEL IFIT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049294.1 10 3.912837 KEEP 0 0 0 13 465 CC 0.994391 0.63775 0 + 9 60 276 0 0 24.620672 17 60 557 55 ENST00000371818.4 0.346154 0.641347 ANKRD1 27063 __UNKNOWN__ __UNKNOWN__ 10 92672564 92672564 __UNKNOWN__ 3'UTR SNP T T C rs3939 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:92672564T>C ENST00000371697.3 - 0 1267 NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) NA NA cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714) autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) GTCTCTTCTCTTGGGCCATGC 0.398 NA NA T||| 1774 0.354233 0.1581 0.4813 5008 , , NA 18743 0.373 NA 0.4573 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X83703 CCDS7412.1 10q23.33 2014-09-17 ENSG00000148677 ENSG00000148677 27063 Ankyrin repeat domain containing 15819 protein-coding gene gene with protein product 609599 NA 7730328 Standard NM_014391 NM_014391 NA Approved C-193, ALRP, CARP, CVARP, MCARP uc001khe.1 Q15327 OTTHUMG00000018734 ENST00000371697.3:c.*59A>G chr10.hg19:g.92672564T>C NA Q96LE7 hg19 CCDS7412.1 0.02 1.80746 CTCxTGG COVERED NOVEL ANKRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049357.1 6 24.670719 KEEP 0 0 0 82 2524 TT 1 0.999804 0 - 5 60 178 0 0 11.828304 84 60 2535 253 ENST00000371697.3 0.05618 0.999804 FGFBP3 143282 __UNKNOWN__ __UNKNOWN__ 10 93667258 93667258 __UNKNOWN__ 3'UTR SNP C C T rs113262917 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:93667258C>T ENST00000311575.5 - 0 1632 NM_152429.4 NP_689642.3 Q8TAT2 FGFP3_HUMAN fibroblast growth factor binding protein 3 NA NA positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of vascular permeability (GO:0043117) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201) large_intestine(1)|prostate(1) 2 Colorectal(252;0.162) gactagccaccgcactccagc 0.463 NA NA C||| 32 0.00638978 0.0234 0.0014 5008 , , NA 14665 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK075410 CCDS7418.1 10q23.33 2006-12-14 2006-12-14 2006-12-14 ENSG00000174721 ENSG00000174721 143282 23428 protein-coding gene gene with protein product NA chromosome 10 open reading frame 13 C10orf13 NA Standard NM_152429 NM_152429 NA Approved MGC39320 uc001khq.4 Q8TAT2 OTTHUMG00000018751 ENST00000311575.5:c.*692G>A chr10.hg19:g.93667258C>T NA B2RD68|Q8NBN0 hg19 CCDS7418.1 0.02 -0.438606 CACxGCA COVERED NOVEL FGFBP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049379.1 5 4.814563 KEEP 0 0 0 16 515 CC 0.997832 0.957778 0 - 4 60 119 0 0 7.951608 41 60 1366 78 ENST00000311575.5 0.088889 0.959859 HHEX 3087 __UNKNOWN__ __UNKNOWN__ 10 94451896 94451896 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:94451896C>G ENST00000472590.2 + 1 1014 HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000282728.5_Intron Q03014 HHEX_HUMAN hematopoietically expressed homeobox NA NA anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 GGCtgtgtgtctgtctgtgtg 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z21533 CCDS7423.1 10q23.33 2011-06-20 2007-02-15 ENSG00000152804 ENSG00000152804 3087 Homeoboxes / ANTP class : NKL subclass 4901 protein-coding gene gene with protein product 604420 PRHX NA 8096636, 8103988 Standard NM_002729 NA Approved HEX, HOX11L-PEN uc001kid.3 Q03014 OTTHUMG00000018762 ENST00000472590.2:c.-156+40C>G chr10.hg19:g.94451896C>G NA B1AQ17|Q96CE9 hg19 0.02 5.996551 TGTxTGT COVERED NOVEL HHEX-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000049403.2 31 22.572787 KEEP 0 0 0 75 2622 CC 1 1 0 + 8 60 280 0 0 18.404911 136 60 4734 337 ENST00000472590.2 0.055556 1 EXOC6 54536 __UNKNOWN__ __UNKNOWN__ 10 94660133 94660133 __UNKNOWN__ Intron SNP T T C rs17377483 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:94660133T>C ENST00000260762.6 + 5 472 EXOC6_ENST00000371552.4_Intron|EXOC6_ENST00000371543.1_3'UTR|EXOC6_ENST00000443748.2_Intron|EXOC6_ENST00000371547.4_Intron NM_019053.4 NP_061926.3 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 NA NA cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904) exocyst (GO:0000145)|plasma membrane (GO:0005886) cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) AAATGATTTCTTCTTGGTTAG 0.303 NA NA T||| 325 0.0648962 0.0272 0.0908 5008 , , NA 17527 0.002 NA 0.168 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028395 CCDS7424.2, CCDS31247.1 10q23.33 2013-01-22 2006-11-07 2006-11-07 ENSG00000138190 ENSG00000138190 54536 23196 protein-coding gene gene with protein product 609672 SEC15-like 1 (S. cerevisiae) SEC15L1 NA 8889548 Standard NM_019053 NM_001013848 NA Approved SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A uc001kig.3 Q8TAG9 OTTHUMG00000018767 ENST00000260762.6:c.458+732T>C chr10.hg19:g.94660133T>C NA E9PHI3|Q5VXH8|Q9NZ24 hg19 CCDS7424.2 0.02 -0.359598 TTCxTCT COVERED NOVEL EXOC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049410.2 3 3.310257 KEEP 0 0 0 11 353 TT 0.993072 0.882717 0 + 4 60 132 0 0 9.463847 36 60 1091 67 ENST00000260762.6 0.1 0.888875 FRA10AC1 118924 __UNKNOWN__ __UNKNOWN__ 10 95429083 95429083 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:95429083C>T ENST00000359204.4 - 0 1645 NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 NA NA nucleus (GO:0005634) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 tcccagcactctgggaggcca 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090955 CCDS7430.1 10q23.33 2014-01-28 2010-05-25 2010-05-25 ENSG00000148690 ENSG00000148690 118924 1162 protein-coding gene gene with protein product 608866 chromosome 10 open reading frame 4 C10orf4 NA 15203205 Standard NM_145246 NM_145246 NA Approved uc001kiz.2 Q70Z53 OTTHUMG00000018776 ENST00000359204.4:c.*500G>A chr10.hg19:g.95429083C>T NA C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8 hg19 CCDS7430.1 0.02 -0.333304 ACTxTGG COVERED NOVEL FRA10AC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049439.1 9 2.843501 KEEP 0 1 30 20 680 CC 0.999869 0.851873 0 - 4 60 105 0 0 7.0712 30 60 1005 79 ENST00000359204.4 0.117647 0.851984 PIPSL 266971 __UNKNOWN__ __UNKNOWN__ 10 95720501 95720501 __UNKNOWN__ RNA SNP T T C rs12571819 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:95720501T>C ENST00000480546.1 - 0 796 NR_002319.2 A2A3N6 PIPSL_HUMAN PIP5K1A and PSMD4-like, pseudogene NA NA cytoplasm (GO:0005737) phosphatidylinositol phosphate kinase activity (GO:0016307) NA TCGCTCTTTCTGGGAAGCCCG 0.448 NA NA T||| 848 0.169329 0.0537 0.1254 5008 , , NA 18544 0.2292 NA 0.2336 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC068549 10q23.33 2010-10-27 2010-10-27 2007-07-06 ENSG00000180764 ENSG00000180764 266971 Proteasome (prosome, macropain) subunits 23733 pseudogene pseudogene NA proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2, phosphatidylinositol-4-phosphate 5-kinase, type I-like 1, PIP5K1A and PSMD4-like PSMD4P2, PIP5K1L1 NA 16344562 Standard NR_002319 NR_002319 NA Approved PIP5K1A-PSMD4, PIP5K1P3 uc009xuj.2 A2A3N6 OTTHUMG00000137480 ENST00000480546.1: chr10.hg19:g.95720501T>C NA Q6NUK8 hg19 0.02 1.780353 TTCxGGG COVERED NOVEL PIPSL-002 PUTATIVE basic processed_transcript NA pseudogene OTTHUMT00000351483.1 5 12.631404 KEEP 0 0 0 42 1240 TT 1 0.984161 0 - 4 60 133 0 0 8.890977 54 60 1606 137 ENST00000480546.1 0.068966 0.984161 HELLS 3070 __UNKNOWN__ __UNKNOWN__ 10 96361776 96361776 __UNKNOWN__ 3'UTR SNP C C T rs1048196 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:96361776C>T ENST00000348459.5 + 0 3019 RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_3'UTR|HELLS_ENST00000394036.1_3'UTR NM_018063.3 NP_060533.2 helicase, lymphoid-specific NA NA endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GGATTATGCTCTCTGTTGTTT 0.328 NA NA C||| 1207 0.241014 0.174 0.1225 5008 , , NA 19953 0.3224 NA 0.2048 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF155827 CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1 10q24.2 2008-08-01 ENSG00000119969 ENSG00000119969 3070 4861 protein-coding gene gene with protein product SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6, proliferation-associated SNF2-like protein 603946 NA 9878251, 10910076 Standard NM_018063 NM_018063 NA Approved PASG, SMARCA6, LSH, Nbla10143 uc001kjt.3 Q9NRZ9 OTTHUMG00000018793 ENST00000348459.5:c.*397C>T chr10.hg19:g.96361776C>T NA hg19 CCDS7434.1 0.02 -0.289491 GCTxTCT COVERED NOVEL HELLS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049475.1 3 5.718633 KEEP 0 0 0 19 674 CC 0.99986 0.76078 0 + 3 60 92 0 0 6.310166 29 60 1001 74 ENST00000348459.5 0.09375 0.760887 MORN4 118812 __UNKNOWN__ __UNKNOWN__ 10 99376152 99376152 __UNKNOWN__ Nonstop_Mutation SNP A A G rs3814556 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:99376152A>G ENST00000478953.1 - 4 382 c.199T>C c.(199-201)Tga>Cga p.*67R MORN4_ENST00000335628.3_Silent_p.P161P|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000307450.6_Silent_p.P103P Q8NDC4 MORN4_HUMAN MORN repeat containing 4 0 NA p.P103P(2) large_intestine(1)|lung(1)|stomach(2) 4 GAGAACCATCAGGGAAAGTCA 0.493 NA NA G||| 1675 0.334465 0.6142 0.2608 5008 , , NA 21271 0.2837 NA 0.1978 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 2 Substitution - coding silent(2) stomach(2) G , 2385,2021 560.3+/-380.4 650,1085,468 45 44 44 309,309 -10.1 0.1 10 dbSNP_107 44 1889,6711 724.4+/-406.5 195,1499,2606 no coding-synonymous,coding-synonymous MORN4 NM_001098831.1,NM_178832.3 , 845,2584,3074 GG,GA,AA 21.9651,45.8693,32.8618 , 103/147,103/147 99376152 4274,8732 2203 4300 6503 SO:0001578 stop_lost AJ431726 CCDS7468.1 10q24.2 2008-06-23 2008-06-23 2008-06-23 ENSG00000171160 ENSG00000171160 118812 24001 protein-coding gene gene with protein product 44050 protein NA chromosome 10 open reading frame 83 C10orf83 NA 12477932 Standard NM_178832 NM_178832 NA Approved bA548K23.4, FLJ25925 uc001koe.3 Q8NDC4 OTTHUMG00000018861 ENST00000478953.1:c.199T>C chr10.hg19:g.99376152A>G ENSP00000441070:p.*67Glyext*9 NA Q86Y54 hg19 0.02 1.664372 ATCxGGG COVERED 697 0.3191391941391941 298 0.6056910569105691 95 0.26243093922651933 161 0.28146853146853146 143 0.18865435356200527 G 1.553 -0.538700 0.04053 0.541307 0.219651 ENSG00000171160 ENST00000478953 . . . 5.03 -10.1 0.00402 . . . . . . . . . . . 0.09310 P 0.9999999999999911 . . . . . . . . . . . . . -2.3015 3.4743 0.07578 0.3815:0.164:0.3555:0.0991 rs3814556;rs17850630;rs60361165;rs3814556 . . . R 67 . . X - 1 0 MORN4 99366142 0.000000 0.05858 0.146000 0.22360 0.884000 0.51177 -2.921000 0.00693 -3.319000 0.00188 -1.163000 0.01768 TGA NOVEL MORN4-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000049732.2 2 13.539358 KEEP 0 0 0 45 1370 AA 1 0.999907 0 - 4 60 141 0 0 8.848953 89 70 2651 195 ENST00000478953.1 0.043011 0.999907 HPS1 3257 __UNKNOWN__ __UNKNOWN__ 10 100202987 100202987 __UNKNOWN__ Missense_Mutation SNP A A G rs58548334 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:100202987A>G ENST00000325103.6 - 3 244 c.11T>C c.(10-12)gTc>gCc p.V4A HPS1_ENST00000361490.4_Missense_Mutation_p.V4A|HPS1_ENST00000338546.5_Missense_Mutation_p.V4A|HPS1_ENST00000467246.1_5'UTR NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 4 NA blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601) BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764) protein dimerization activity (GO:0046983) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GGCCACCAAGACGCACTTCAT 0.547 NA NA Hermansky-Pudlak syndrome A||| 204 0.0407348 0.0582 0.0144 5008 , , NA 19094 0.0198 NA 0.0338 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 A ALA/VAL,ALA/VAL 277,4129 153.3+/-186.9 4,269,1930 112 100 104 11,11 4.6 0.2 10 dbSNP_129 104 185,8415 83.1+/-145.7 5,175,4120 yes missense,missense HPS1 NM_000195.3,NM_182639.2 64,64 9,444,6050 GG,GA,AA 2.1512,6.2869,3.5522 probably-damaging,probably-damaging 4/701,4/325 100202987 462,12544 2203 4300 6503 SO:0001583 missense Familial Cancer Database HPS, HPS1-8 U79136 CCDS7475.1, CCDS7476.1 10q23.1-q23.3 2014-06-18 2002-05-01 ENSG00000107521 ENSG00000107521 3257 5163 protein-coding gene gene with protein product 604982 Hermansky-Pudlak syndrome HPS NA 8541858, 7573033 Standard NM_000195, NM_182637, NM_182638, NM_182639 NM_182639 NA Approved uc021pwv.1 Q92902 OTTHUMG00000018876 ENST00000325103.6:c.11T>C chr10.hg19:g.100202987A>G ENSP00000326649:p.Val4Ala NA A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5 hg19 CCDS7475.1 0.02 3.953725 AAGxCGC COVERED 74 0.03388278388278388 29 0.05894308943089431 5 0.013812154696132596 9 0.015734265734265736 31 0.040897097625329816 A 17.23 3.337906 0.60963 0.062869 0.021512 ENSG00000107521 ENST00000325103;ENST00000361490;ENST00000407891;ENST00000338546 T;T;T 0.28895 1.59;1.59;1.59 4.62 4.62 0.57501 . 0.136685 0.49305 D 0.000143 T 0.06371 0.0164 M 0.74881 2.28 0.35419 D 0.793087 D;P;P;P 0.54397 0.966;0.948;0.765;0.765 P;B;B;P 0.47430 0.547;0.442;0.297;0.447 T 0.46679 -0.9174 10 0.66056 D 0.02 . 13.1454 0.59459 1.0:0.0:0.0:0.0 rs58548334 4;4;4;4 Q92902;Q92902-3;Q92902-2;D3DR62 HPS1_HUMAN;.;.;. A 4 ENSP00000326649:V4A;ENSP00000355310:V4A;ENSP00000343638:V4A ENSP00000326649:V4A V - 2 0 HPS1 100192977 1.000000 0.71417 0.202000 0.23494 0.466000 0.32739 7.566000 0.82347 1.939000 0.56221 0.533000 0.62120 GTC NOVEL HPS1-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049776.1 12 30.68696 KEEP 0 0 0 102 3077 AA 1 1 0 - 5 60 170 0 0 10.276791 120 60 3662 322 ENST00000325103.6 0.04 1 NPM3 10360 __UNKNOWN__ __UNKNOWN__ 10 103542959 103542959 __UNKNOWN__ Intron SNP C C G rs34030968|rs935445 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:103542959C>G ENST00000370110.5 - 1 141 NPM3_ENST00000474993.1_Intron NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 NA NA rRNA processing (GO:0006364)|rRNA transcription (GO:0009303) nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TTGAAACCCTCCGCATTCCCG 0.627 NA NA C||| 1254 0.250399 0.0295 0.3746 5008 , , NA 14849 0.129 NA 0.3718 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY049737 CCDS7519.1 10q24.31 2009-08-27 2009-08-27 ENSG00000107833 ENSG00000107833 10360 7931 protein-coding gene gene with protein product 606456 NA 11722795 Standard NM_006993 NM_006993 NA Approved uc001ktt.3 O75607 OTTHUMG00000018942 ENST00000370110.5:c.118+70G>C chr10.hg19:g.103542959C>G NA Q9UNY6 hg19 CCDS7519.1 0.02 1.686833 CCTxCGC COVERED NOVEL NPM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050003.2 2 16.55257 KEEP 0 0 0 55 1865 CC 1 0.999218 0 - 4 60 137 0 0 8.715523 76 60 2574 191 ENST00000370110.5 0.05 0.999218 NPM3 10360 __UNKNOWN__ __UNKNOWN__ 10 103542960 103542960 __UNKNOWN__ Intron SNP C C G rs34030968|rs935444 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:103542960C>G ENST00000370110.5 - 1 141 NPM3_ENST00000474993.1_Intron NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 NA NA rRNA processing (GO:0006364)|rRNA transcription (GO:0009303) nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TGAAACCCTCCGCATTCCCGC 0.627 NA NA C||| 1254 0.250399 0.0295 0.3746 5008 , , NA 14866 0.129 NA 0.3718 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY049737 CCDS7519.1 10q24.31 2009-08-27 2009-08-27 ENSG00000107833 ENSG00000107833 10360 7931 protein-coding gene gene with protein product 606456 NA 11722795 Standard NM_006993 NM_006993 NA Approved uc001ktt.3 O75607 OTTHUMG00000018942 ENST00000370110.5:c.118+69G>C chr10.hg19:g.103542960C>G NA Q9UNY6 hg19 CCDS7519.1 0.02 1.851107 CTCxGCA COVERED NOVEL NPM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050003.2 2 16.539615 KEEP 0 0 0 55 1813 CC 1 0.999559 0 - 4 60 140 0 0 8.928452 80 60 2706 197 ENST00000370110.5 0.047619 0.999559 MGEA5 10724 __UNKNOWN__ __UNKNOWN__ 10 103573222 103573222 __UNKNOWN__ Intron SNP C C T rs11191118 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:103573222C>T ENST00000361464.3 - 2 647 MGEA5_ENST00000439817.1_Intron|MGEA5_ENST00000419011.2_Intron|MGEA5_ENST00000357797.5_Intron|MGEA5_ENST00000370094.3_Intron NM_012215.3 NP_036347.1 O60502 OGA_HUMAN meningioma expressed antigen 5 (hyaluronidase) NA NA aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) CAAAATGCACCTGGGCTATTC 0.358 NA NA C||| 1247 0.249002 0.0204 0.3746 5008 , , NA 16990 0.1359 NA 0.3708 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF036144 CCDS7520.1, CCDS44471.1 10q24.1-q24.3 2008-08-01 ENSG00000198408 ENSG00000198408 10724 7056 protein-coding gene gene with protein product nuclear cytoplasmic O-GlcNAcase and acetyltransferase 604039 NA 9811929, 16356930 Standard NM_012215 NM_012215 NA Approved MEA5, NCOAT, OGA uc001ktv.2 O60502 OTTHUMG00000018939 ENST00000361464.3:c.251+89G>A chr10.hg19:g.103573222C>T NA B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0 hg19 CCDS7520.1 0.02 1.436029 CACxTGG COVERED NOVEL MGEA5-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049987.1 2 7.223412 KEEP 0 0 0 24 855 CC 0.999909 0.967338 0 - 5 60 144 0 0 9.64427 47 60 1630 113 ENST00000361464.3 0.096154 0.967425 C10orf32-ASMT 100528007 __UNKNOWN__ __UNKNOWN__ 10 104660583 104660583 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:104660583A>G ENST00000299353.6 + 0 1597 AS3MT_ENST00000369880.3_3'UTR C10orf32-ASMT readthrough (NMD candidate) NA NA NA gctcatgcctataatcccagc 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 10q24.32 2013-09-25 ENSG00000270316 ENSG00000270316 100528007 49183 other readthrough NA NA Standard NR_037644 NA Approved OTTHUMG00000184175 ENST00000299353.6:c.*1261A>G chr10.hg19:g.104660583A>G NA hg19 CCDS7542.2 0.02 3.886809 CCTxTAA COVERED NOVEL C10orf32-ASMT-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000468206.2 26 7.452861 KEEP 1 7 238 108 3111 AA 1 1 0 + 13 60 436 0 0 31.369209 119 60 3435 392 ENST00000299353.6 0.098485 1 RBM20 282996 __UNKNOWN__ __UNKNOWN__ 10 112596840 112596840 __UNKNOWN__ 3'UTR SNP G G A rs11195349 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:112596840G>A ENST00000369519.3 + 0 4846 NM_001134363.1 NP_001127835.1 Q5T481 RBM20_HUMAN RNA binding motif protein 20 NA NA heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380) nucleus (GO:0005634) nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2) 12 CCCCCAGTTGGGGGAGAAGCT 0.507 NA NA G||| 1380 0.275559 0.1059 0.3329 5008 , , NA 19233 0.2629 NA 0.4394 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648563 CCDS44477.1 10q25.3 2014-09-17 ENSG00000203867 ENSG00000203867 282996 RNA binding motif (RRM) containing 27424 protein-coding gene gene with protein product 613171 NA Standard NM_001134363 NM_001134363 NA Approved uc001kzf.2 Q5T481 OTTHUMG00000019043 ENST00000369519.3:c.*1104G>A chr10.hg19:g.112596840G>A NA A6NIP5|B5A868|Q5JVI1 hg19 CCDS44477.1 0.02 1.604775 TTGxGGG COVERED NOVEL RBM20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050339.2 4 11.71766 KEEP 0 0 0 39 1328 GG 1 0.998993 0 + 5 60 156 0 0 9.955971 72 60 2479 153 ENST00000369519.3 0.064935 0.998993 ACSL5 51703 __UNKNOWN__ __UNKNOWN__ 10 114187787 114187787 __UNKNOWN__ 3'UTR SNP T T C rs8624 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:114187787T>C ENST00000393081.1 + 0 3030 ACSL5_ENST00000354273.4_3'UTR|ACSL5_ENST00000354655.4_3'UTR|ACSL5_ENST00000433418.1_3'UTR|ACSL5_ENST00000356116.1_3'UTR NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 NA NA cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467) breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CTATGACATATTGTCCAAAAG 0.388 NA NA T||| 1842 0.367812 0.5408 0.2954 5008 , , NA 19496 0.3194 NA 0.2982 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033899 CCDS7572.1, CCDS7573.1 10q25.1-q25.2 2004-06-21 2004-02-19 2004-02-20 ENSG00000197142 ENSG00000197142 51703 Acyl-CoA synthetase family 16526 protein-coding gene gene with protein product FACL5 for fatty acid coenzyme A ligase 5, long-chain acyl-CoA synthetase 5, long-chain fatty acid coenzyme A ligase 5, fatty-acid-Coenzyme A ligase, long-chain 5 605677 fatty-acid-Coenzyme A ligase, long-chain 5 FACL5 NA 11127823 Standard NM_016234 NM_016234 NA Approved ACS5, ACS2 uc001kzu.3 Q9ULC5 OTTHUMG00000019060 ENST00000393081.1:c.*671T>C chr10.hg19:g.114187787T>C NA A6GV77|D3DRB3|Q6UX44|Q9UIU4 hg19 CCDS7573.1 0.02 1.941326 ATAxTGT COVERED NOVEL ACSL5-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050386.1 0 5.992343 KEEP 0 0 0 20 626 TT 0.999863 0.963642 0 + 4 60 131 0 0 8.923373 47 60 1428 100 ENST00000393081.1 0.078431 0.963774 INPP5F 22876 __UNKNOWN__ __UNKNOWN__ 10 121586882 121586882 __UNKNOWN__ Missense_Mutation SNP A A G rs3188055 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:121586882A>G ENST00000361976.2 + 20 3155 c.2989A>G c.(2989-2991)Aat>Gat p.N997D INPP5F_ENST00000369080.3_Missense_Mutation_p.N387D NM_014937.3 NP_055752.1 Q01968 OCRL_HUMAN inositol polyphosphate-5-phosphatase F 0 NA cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) p.N997D(1) breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TCAAGTTTCAAATGAAACCCA 0.448 NA NA A||| 1347 0.26897 0.2678 0.2824 5008 , , NA 21231 0.1796 NA 0.337 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A ASP/ASN 1164,3242 408.9+/-334.8 153,858,1192 108 102 104 2989 1.9 0 10 dbSNP_105 104 2849,5751 449.3+/-362.1 488,1873,1939 yes missense INPP5F NM_014937.3 23 641,2731,3131 GG,GA,AA 33.1279,26.4185,30.855 benign 997/1133 121586882 4013,8993 2203 4300 6503 SO:0001583 missense AB023183 CCDS7616.1, CCDS58098.1 10q26.13 2009-02-03 ENSG00000198825 ENSG00000198825 22876 17054 protein-coding gene gene with protein product 609389 NA 10231032, 11274189 Standard NM_014937 NM_014937 NA Approved SAC2, KIAA0966, hSac2 uc001leo.3 Q9Y2H2 OTTHUMG00000019158 ENST00000361976.2:c.2989A>G chr10.hg19:g.121586882A>G ENSP00000354519:p.Asn997Asp NA A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5 hg19 CCDS7616.1 0.02 3.824435 TCAxATG COVERED 627 0.28708791208791207 159 0.3231707317073171 112 0.30939226519337015 103 0.18006993006993008 253 0.3337730870712401 A 0.257 -1.002580 0.02128 0.264185 0.331279 ENSG00000198825 ENST00000361976;ENST00000369080 T;T 0.43688 1.18;0.94 5.62 1.93 0.25924 . 0.840743 0.10898 N 0.621975 T 0.00012 0.0000 L 0.44542 1.39 0.58432 P 1.999999999946489E-6 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.33394 -0.9870 9 0.34782 T 0.22 -5.5089 5.6696 0.17715 0.7097:0.1435:0.1467:0.0 rs3188055;rs3824829;rs56742122;rs3188055 387;997 Q5W135;Q9Y2H2 .;SAC2_HUMAN D 997;387 ENSP00000354519:N997D;ENSP00000358076:N387D ENSP00000354519:N997D N + 1 0 INPP5F 121576872 0.000000 0.05858 0.007000 0.13788 0.011000 0.07611 1.099000 0.31013 0.141000 0.18875 0.533000 0.62120 AAT NOVEL INPP5F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050679.1 8 18.367484 KEEP 0 1 37 74 2269 AA 1 0.999999 0 + 5 60 172 0 0 10.603063 113 60 3442 271 ENST00000361976.2 0.042373 0.999999 C10orf137 0 __UNKNOWN__ __UNKNOWN__ 10 127408220 127408220 __UNKNOWN__ 5'UTR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:127408220G>C ENST00000356792.4 + 0 76 NM_001202438.1 NP_001189367.1 Q3B7T1 EDRF1_HUMAN NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TCGGGACAAAGATCGCGAGAT 0.652 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA NA ENST00000356792.4:c.-157G>C chr10.hg19:g.127408220G>C NA B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4 hg19 CCDS55733.1 0.02 5.90971 AAAxATC COVERED NOVEL C10orf137-007 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000388539.1 6 18.036698 KEEP 0 5 169 119 4166 GG 1 1 0 + 25 60 880 0 0 67.267045 174 60 6032 458 ENST00000356792.4 0.125628 1 C10orf137 0 __UNKNOWN__ __UNKNOWN__ 10 127430072 127430072 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:127430072G>A ENST00000356792.4 + 17 2603 C10orf137_ENST00000337623.3_Intron NM_001202438.1 NP_001189367.1 Q3B7T1 EDRF1_HUMAN NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) ggcctcccaaggtgctgggat 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000356792.4:c.2371+302G>A chr10.hg19:g.127430072G>A NA B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4 hg19 CCDS55733.1 0.02 1.313191 CAAxGTG COVERED NOVEL C10orf137-007 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000388539.1 7 2.276182 KEEP 0 2 61 29 1014 GG 0.999997 0.99442 0 + 5 60 144 0 0 9.211055 58 60 2059 134 ENST00000356792.4 0.079365 0.994422 UROS 7390 __UNKNOWN__ __UNKNOWN__ 10 127491165 127491165 __UNKNOWN__ Intron SNP C C T rs3814624 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:127491165C>T ENST00000368797.4 - 7 619 UROS_ENST00000368778.3_3'UTR|UROS_ENST00000368786.1_Intron|UROS_ENST00000462490.1_Intron NM_000375.2 NP_000366.1 P10746 HEM4_HUMAN uroporphyrinogen III synthase NA NA cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780) cytosol (GO:0005829)|mitochondrion (GO:0005739) cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852) endometrium(2)|large_intestine(2)|lung(2)|skin(1) 7 all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203) AGCACAGGGCCAACCGTCTTT 0.498 NA NA C||| 1946 0.388578 0.3971 0.3329 5008 , , NA 20387 0.3115 NA 0.4384 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J03824 CCDS7648.1 10q25.2-q26.3 2008-07-31 2008-07-31 ENSG00000188690 ENSG00000188690 7390 4.2.1.75 12592 protein-coding gene gene with protein product congenital erythropoietic porphyria 606938 NA 2037278 Standard NM_000375 NM_000375 NA Approved uc001lix.4 P10746 OTTHUMG00000019236 ENST00000368797.4:c.395-4451G>A chr10.hg19:g.127491165C>T NA B2RC13|D3DRF7|Q9H2T1 hg19 CCDS7648.1 0.02 1.60786 GGCxAAC COVERED NOVEL UROS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050929.1 1 7.223129 KEEP 0 0 0 24 829 CC 0.999909 0.976777 0 - 5 60 153 0 0 10.414743 50 60 1702 122 ENST00000368797.4 0.090909 0.976865 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127685091 127685091 __UNKNOWN__ Intron SNP T T C rs3736477 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:127685091T>C ENST00000368695.1 + 5 502 FANK1_ENST00000368693.1_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) ACTGAGCATGTTTATCTCTTT 0.443 NA NA C||| 3096 0.618211 0.4569 0.5288 5008 , , NA 17039 0.7748 NA 0.6491 False NA ,,, NA NA NA 2504 0.7065 NA NA NA NA 0 C 2198,2208 587.6+/-386.7 565,1068,570 185 170 175 -5.5 0 10 dbSNP_107 175 5817,2783 441.3+/-359.8 1940,1937,423 no intron FANK1 NM_145235.3 2505,3005,993 CC,CT,TT 32.3605,49.8865,38.3746 127685091 8015,4991 2203 4300 6503 SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.381-28T>C chr10.hg19:g.127685091T>C NA Q6UXY9|Q6X7T6 hg19 0.02 1.951059 ATGxTTA COVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 5 13.971885 KEEP 0 1 39 60 1830 TT 1 0.999559 0 + 5 60 177 0 0 11.857419 79 60 2375 206 ENST00000368695.1 0.059524 0.999559 ADAM12 8038 __UNKNOWN__ __UNKNOWN__ 10 127705280 127705280 __UNKNOWN__ 3'UTR SNP G G C rs10751538 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:127705280G>C ENST00000368679.4 - 0 3607 NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 NA NA cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TTTCTCCCAGGTGTCCCTGGG 0.577 NA NA C||| 3516 0.702077 0.7398 0.5634 5008 , , NA 16900 0.7877 NA 0.6541 False NA ,,, NA NA NA 2504 0.7106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF023476 CCDS7653.1, CCDS7654.1 10q26 2008-07-29 2008-07-29 ENSG00000148848 ENSG00000148848 8038 ADAM metallopeptidase domain containing 190 protein-coding gene gene with protein product meltrin alpha 602714 a disintegrin and metalloproteinase domain 12 (meltrin alpha) NA 9417060, 18342566 Standard NM_003474 NA Approved MCMPMltna, MLTN uc001ljk.2 O43184 OTTHUMG00000019243 ENST00000368679.4:c.*568C>G chr10.hg19:g.127705280G>C NA O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0 hg19 CCDS7653.1 0.02 1.725066 CAGxTGT COVERED NOVEL ADAM12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050961.1 1 14.131861 KEEP 0 0 0 47 1605 GG 1 0.999726 0 - 4 60 139 0 0 8.766165 83 60 2807 177 ENST00000368679.4 0.045977 0.999726 ADAM12 8038 __UNKNOWN__ __UNKNOWN__ 10 127730298 127730298 __UNKNOWN__ Intron SNP T T G rs35214304 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:127730298T>G ENST00000368679.4 - 18 2423 ADAM12_ENST00000368676.4_3'UTR NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 NA NA cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CTGCCAAGGCTGAGGTGTCAC 0.488 NA NA T||| 141 0.028155 0.0045 0.0375 5008 , , NA 21286 0 NA 0.0924 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF023476 CCDS7653.1, CCDS7654.1 10q26 2008-07-29 2008-07-29 ENSG00000148848 ENSG00000148848 8038 ADAM metallopeptidase domain containing 190 protein-coding gene gene with protein product meltrin alpha 602714 a disintegrin and metalloproteinase domain 12 (meltrin alpha) NA 9417060, 18342566 Standard NM_003474 NA Approved MCMPMltna, MLTN uc001ljk.2 O43184 OTTHUMG00000019243 ENST00000368679.4:c.2113+1310A>C chr10.hg19:g.127730298T>G NA O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0 hg19 CCDS7653.1 0.02 -0.429776 GGCxGAG COVERED NOVEL ADAM12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050961.1 1 7.522194 KEEP 0 0 0 25 770 TT 0.999931 0.954425 0 - 3 60 106 0 0 7.132136 46 60 1404 104 ENST00000368679.4 0.061224 0.954491 PTPRE 5791 __UNKNOWN__ __UNKNOWN__ 10 129871690 129871690 __UNKNOWN__ Silent SNP A A G rs2275803 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr10:129871690A>G ENST00000254667.3 + 17 1833 c.1554A>G c.(1552-1554)aaA>aaG p.K518K PTPRE_ENST00000306042.5_Silent_p.K460K|PTPRE_ENST00000419012.2_Silent_p.K518K NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 518 Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}. NA negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) p.K518K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) Alendronate(DB00630) GGGAATGGAAATCCCACACTA 0.597 NA NA A||| 1296 0.258786 0.2829 0.2435 5008 , , NA 20991 0.2599 NA 0.2018 False NA ,,, NA NA NA 2504 0.2945 NA NA NA Colon(52;977 1184 20575 41685) NA 1 Substitution - coding silent(1) stomach(1) A , 1176,3230 415.2+/-337.1 153,870,1180 119 101 107 1554,1380 1.5 1 10 dbSNP_100 107 1752,6848 317.9+/-313.4 185,1382,2733 no coding-synonymous,coding-synonymous PTPRE NM_006504.4,NM_130435.3 , 338,2252,3913 GG,GA,AA 20.3721,26.6909,22.5127 , 518/701,460/643 129871690 2928,10078 2203 4300 6503 SO:0001819 synonymous_variant AF406557 CCDS7657.1, CCDS7658.1 10q26 2011-06-09 ENSG00000132334 ENSG00000132334 5791 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like 9669 protein-coding gene gene with protein product 600926 NA 8595895 Standard NM_130435 NA Approved PTPE uc001lkb.3 P23469 OTTHUMG00000019254 ENST00000254667.3:c.1554A>G chr10.hg19:g.129871690A>G NA Q13345|Q5VWH3|Q5VWH4|Q96KQ6 hg19 CCDS7657.1 0.02 -0.403417 GAAxTCC COVERED NOVEL PTPRE-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050990.1 2 9.924489 KEEP 0 0 0 33 972 AA 0.999998 0.93449 0 + 3 60 101 0 0 6.717786 43 60 1255 106 ENST00000254667.3 0.065217 0.934492 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016818 1016818 __UNKNOWN__ Missense_Mutation SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1016818A>G ENST00000421673.2 - 31 6033 c.5983T>C c.(5983-5985)Tat>Cat p.Y1995H NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1995 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGGTTGGATAGGTAGTGGTG 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5983T>C chr11.hg19:g.1016818A>G ENSP00000406861:p.Tyr1995His NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 25.062701 GATxGGT COVERED . . . . . . . . . . A 1.618 -0.522280 0.04171 . . ENSG00000184956 ENST00000421673 T 0.19806 2.12 3.08 -6.16 0.02098 . . . . . T 0.04272 0.0118 N 0.00823 -1.155 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.32771 -0.9894 9 0.15066 T 0.55 . 4.0713 0.09884 0.251:0.1308:0.4892:0.129 . 1995 Q6W4X9 MUC6_HUMAN H 1995 ENSP00000406861:Y1995H ENSP00000406861:Y1995H Y - 1 0 MUC6 1006818 0.000000 0.05858 0.000000 0.03702 0.085000 0.17905 -3.876000 0.00344 -2.305000 0.00654 -0.760000 0.03462 TAT NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 107 55.979218 KEEP 15 11 386 321 9512 AA 1 1 0 - 17 60 586 0 0 36.886686 348 60 10223 1386 ENST00000421673.2 0.046575 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016825 1016825 __UNKNOWN__ Silent SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1016825G>A ENST00000421673.2 - 31 6026 c.5976C>T c.(5974-5976)acC>acT p.T1992T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1992 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATAGGTAGTGGTGGTCTGGA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1487 1481 1483 NA NA 11 NA 1016825 2203 4298 6501 SO:0001819 synonymous_variant U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5976C>T chr11.hg19:g.1016825G>A NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 18.198131 AGTxGTG COVERED NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 114 48.305424 KEEP 19 16 479 329 11467 GG 1 1 0 - 30 60 898 0 0 58.440454 354 60 12165 1455 ENST00000421673.2 0.078125 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016835 1016835 __UNKNOWN__ Missense_Mutation SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1016835A>G ENST00000421673.2 - 31 6016 c.5966T>C c.(5965-5967)tTc>tCc p.F1989S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1989 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) p.F1989Y(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTGGTCTGGAAGGATGTTGC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) lung(2) 1541 1526 1531 NA NA 11 NA 1016835 2203 4299 6502 SO:0001583 missense U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5966T>C chr11.hg19:g.1016835A>G ENSP00000406861:p.Phe1989Ser NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 26.707899 TGGxAGG COVERED . . . . . . . . . . A 12.65 2.002866 0.35320 . . ENSG00000184956 ENST00000421673 T 0.18657 2.2 3.08 -0.788 0.10939 . . . . . T 0.12390 0.0301 L 0.38531 1.155 0.09310 N 1 B 0.15930 0.015 B 0.14578 0.011 T 0.41106 -0.9527 9 0.07644 T 0.81 . 6.7728 0.23602 0.4725:0.0:0.5275:0.0 . 1989 Q6W4X9 MUC6_HUMAN S 1989 ENSP00000406861:F1989S ENSP00000406861:F1989S F - 2 0 MUC6 1006835 0.000000 0.05858 0.000000 0.03702 0.020000 0.10135 -0.386000 0.07370 -0.019000 0.14055 0.254000 0.18369 TTC NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 117 59.770276 KEEP 13 12 407 341 10416 AA 1 1 0 - 16 60 561 1 0 34.632069 381 60 11503 1482 ENST00000421673.2 0.040302 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016889 1016889 __UNKNOWN__ Missense_Mutation SNP G G A rs373231068 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1016889G>A ENST00000421673.2 - 31 5962 c.5912C>T c.(5911-5913)cCa>cTa p.P1971L NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1971 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCTGTAGGTGGGGAGTGTGT 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 1041 1055 1050 NA NA 11 NA 1016889 2203 4298 6501 SO:0001583 missense U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5912C>T chr11.hg19:g.1016889G>A ENSP00000406861:p.Pro1971Leu NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 16.106196 GGTxGGG COVERED . . . . . . . . . . G 12.19 1.862334 0.32884 . . ENSG00000184956 ENST00000421673 T 0.18016 2.24 3.08 0.802 0.18686 . . . . . T 0.12220 0.0297 L 0.47716 1.5 0.09310 N 1 B 0.23650 0.089 B 0.16722 0.016 T 0.36744 -0.9735 9 0.13108 T 0.6 . 6.4541 0.21920 0.0:0.2122:0.5938:0.194 . 1971 Q6W4X9 MUC6_HUMAN L 1971 ENSP00000406861:P1971L ENSP00000406861:P1971L P - 2 0 MUC6 1006889 0.003000 0.15002 0.002000 0.10522 0.377000 0.30045 1.212000 0.32394 0.602000 0.29896 0.306000 0.20318 CCA NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 105 66.212608 KEEP 16 9 258 311 10589 GG 1 1 0 - 15 60 419 2 0 24.132083 248 60 8346 1318 ENST00000421673.2 0.057034 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016919 1016919 __UNKNOWN__ Missense_Mutation SNP C C T rs536595477 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1016919C>T ENST00000421673.2 - 31 5932 c.5882G>A c.(5881-5883)aGg>aAg p.R1961K NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1961 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTGGGTAGCCTGCTGCTGCT 0.587 NA NA C||| 4 0.000798722 0 0 5008 , , NA 24077 0.004 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 694 713 707 NA NA 11 NA 1016919 2203 4295 6498 SO:0001583 missense U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5882G>A chr11.hg19:g.1016919C>T ENSP00000406861:p.Arg1961Lys NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 14.065085 AGCxTGC COVERED . . . . . . . . . . C 0.232 -1.020016 0.02078 . . ENSG00000184956 ENST00000421673 T 0.17854 2.25 3.12 -4.2 0.03823 . . . . . T 0.06917 0.0176 N 0.12182 0.205 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.41106 -0.9527 9 0.16896 T 0.51 . 5.8138 0.18481 0.0:0.5175:0.1322:0.3502 . 1961 Q6W4X9 MUC6_HUMAN K 1961 ENSP00000406861:R1961K ENSP00000406861:R1961K R - 2 0 MUC6 1006919 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.310000 0.00517 -1.090000 0.03069 -1.305000 0.01319 AGG NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 72 8.373351 KEEP 27 19 578 231 8129 CC 1 1 0 - 24 60 700 0 0 50.530078 160 60 5472 1015 ENST00000421673.2 0.130435 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1212810 1212810 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1212810T>C ENST00000358378.6 + 0 51 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CTGGAACTACTCCCAGCCCTG 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*48T>C chr11.hg19:g.1212810T>C NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 10.467096 TACxCCC COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 73 31.076907 KEEP 63 9 299 208 6103 TT 1 1 0 + 9 48 278 0 1 19.35743 83 60 2448 690 ENST00000358378.6 0.097826 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1212847 1212847 __UNKNOWN__ 3'UTR SNP C C T rs200922784 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1212847C>T ENST00000358378.6 + 0 88 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) aacctctgctcctacaaccag 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*85C>T chr11.hg19:g.1212847C>T NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 20.443654 GCTxCTA COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 147 28.554429 KEEP 93 46 1334 565 19309 CC 1 1 0 + 14 60 399 2 0 30.311367 68 60 2249 1838 ENST00000358378.6 0.170732 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1212961 1212961 __UNKNOWN__ 3'UTR SNP T T C rs113523130 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1212961T>C ENST00000358378.6 + 0 202 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) cagcacaacctctgcctctac 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 61 55 57 NA NA 11 NA 1212961 872 1988 2860 SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*199T>C chr11.hg19:g.1212961T>C NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 18.401602 ACCxCTG COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 102 51.697907 KEEP 147 20 685 412 12368 TT 1 1 0 + 13 57 427 0 0 27.434938 209 60 6242 1286 ENST00000358378.6 0.058559 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1213142 1213142 __UNKNOWN__ 3'UTR SNP C C G rs200544156 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1213142C>G ENST00000358378.6 + 0 383 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GGTCCTGGAACTACTCCCAGC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 144 140 141 NA NA 11 NA 1213142 875 1990 2865 SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*380C>G chr11.hg19:g.1213142C>G NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 12.334075 GAAxTAC COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 64 22.869885 KEEP 18 11 390 212 7375 CC 1 1 0 + 10 58 338 0 0 22.808758 134 60 4556 748 ENST00000358378.6 0.069444 1 KRTAP5-4 387267 __UNKNOWN__ __UNKNOWN__ 11 1642299 1642299 __UNKNOWN__ 3'UTR SNP T T A rs10768781 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:1642299T>A ENST00000399682.1 - 0 1069 NM_001012709.1 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 NA NA keratin filament (GO:0045095) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACCTTGTTGCAGGTGGGA 0.488 NA NA t||| 2664 0.531949 0.6558 0.4784 5008 , , NA 16958 0.3859 NA 0.5547 False NA ,,, NA NA NA 2504 0.5297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB126073 11p15.5 2012-04-19 ENSG00000241598 ENSG00000241598 387267 Keratin associated proteins 23599 protein-coding gene gene with protein product NA NA 15144888 Standard NM_001012709 NM_001012709 NA Approved KRTAP5.4 uc009ycy.1 Q6L8H1 OTTHUMG00000057553 ENST00000399682.1:c.*338A>T chr11.hg19:g.1642299T>A NA hg19 0.02 -0.219222 TGTxGCA COVERED NOVEL KRTAP5-4-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000127918.1 0 3.007516 KEEP 0 0 0 10 279 TT 0.992708 0.548856 0 - 3 60 93 0 0 6.749841 22 60 618 40 ENST00000399682.1 0.12 0.552887 HBG2 3048 __UNKNOWN__ __UNKNOWN__ 11 5276282 5276282 __UNKNOWN__ 5'UTR SNP A A G rs113622787 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:5276282A>G ENST00000380259.2 - 0 917 HBG2_ENST00000380252.1_Intron P69892 HBG2_HUMAN hemoglobin, gamma G NA NA blood coagulation (GO:0007596) blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344) endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTCATTCCAATTTTTCTCTA 0.398 NA NA OREG0002364|OREG0003736 type=REGULATORY REGION|Gene=HBB gene family|Dataset=CRMs in the HBB locus|EvidenceSubtype=Literature derived|type=REGULATORY REGION|Gene=HBG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC029387 CCDS7755.1 11p15.5 2014-05-19 ENSG00000196565 ENSG00000196565 3048 4832 protein-coding gene gene with protein product 142250 NA 2649166 Standard NM_000184 NM_000184 NA Approved HBG-T1 P69892 OTTHUMG00000066673 ENST00000380259.2:c.-324T>C chr11.hg19:g.5276282A>G 625 A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7 hg19 CCDS7755.1 0.02 4.158591 CCAxTTT COVERED NOVEL HBG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142967.2 8 8.364119 KEEP 0 4 141 77 2382 AA 1 0.999997 0 - 9 60 304 0 0 20.95736 107 60 3235 279 ENST00000380259.2 0.077586 0.999997 HBG2 3048 __UNKNOWN__ __UNKNOWN__ 11 5572966 5572966 __UNKNOWN__ Intron SNP A A G rs423501 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:5572966A>G ENST00000380259.2 - 4 677 P69892 HBG2_HUMAN hemoglobin, gamma G NA NA blood coagulation (GO:0007596) blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344) endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGACAATAGAGTTGAGAGCA 0.433 NA NA G||| 2789 0.556909 0.5408 0.4251 5008 , , NA 22435 0.8383 NA 0.2684 False NA ,,, NA NA NA 2504 0.6789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029387 CCDS7755.1 11p15.5 2014-05-19 ENSG00000196565 ENSG00000196565 3048 4832 protein-coding gene gene with protein product 142250 NA 2649166 Standard NM_000184 NM_000184 NA Approved HBG-T1 P69892 OTTHUMG00000066673 ENST00000380259.2:c.563+39088T>C chr11.hg19:g.5572966A>G NA A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7 hg19 CCDS7755.1 0.02 2.135234 TAGxGTT COVERED NOVEL HBG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142967.2 3 10.79868 KEEP 0 0 0 36 1122 AA 0.999999 0.992093 0 - 4 60 140 0 0 9.499581 57 60 1733 137 ENST00000380259.2 0.065574 0.992094 OR10A6 390093 __UNKNOWN__ __UNKNOWN__ 11 7949860 7949860 __UNKNOWN__ Missense_Mutation SNP G G A rs7928451 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:7949860G>A ENST00000309838.2 - 1 349 c.350C>T c.(349-351)gCa>gTa p.A117V NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 117 NA A -> V (in dbSNP:rs7928451). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATAAGCCATTGCTCCCAGAAG 0.373 NA NA G||| 1975 0.394369 0.2685 0.3761 5008 , , NA 18668 0.494 NA 0.4254 False NA ,,, NA NA NA 2504 0.4427 NA NA NA NA 0 G VAL/ALA 1224,3178 416.3+/-337.5 182,860,1159 72 75 74 350 1.5 1 11 dbSNP_116 74 3463,5129 505.5+/-376.4 719,2025,1552 yes missense OR10A6 NM_001004461.1 64 901,2885,2711 AA,AG,GG 40.3049,27.8055,36.0705 benign 117/315 7949860 4687,8307 2201 4296 6497 SO:0001583 missense AB065515 CCDS31420.1 11p15.4 2012-08-09 ENSG00000175393 ENSG00000175393 390093 GPCR / Class A : Olfactory receptors 15132 protein-coding gene gene with protein product NA NA Standard NM_001004461 NM_001004461 NA Approved uc010rbh.2 Q8NH74 OTTHUMG00000165671 ENST00000309838.2:c.350C>T chr11.hg19:g.7949860G>A ENSP00000312470:p.Ala117Val NA Q6IF59 hg19 CCDS31420.1 0.02 1.262972 ATTxCTC COVERED 864 0.3956043956043956 136 0.2764227642276423 136 0.3756906077348066 280 0.48951048951048953 312 0.41160949868073876 G 1.982 -0.433918 0.04669 0.278055 0.403049 ENSG00000175393 ENST00000309838 T 0.01369 4.97 4.41 1.51 0.23008 GPCR, rhodopsin-like superfamily (1); 0.160587 0.28388 N 0.015538 T 0.00012 0.0000 N 0.04373 -0.215 0.42321 P 0.007740999999999998 B 0.12630 0.006 B 0.14023 0.01 T 0.32798 -0.9893 9 0.02654 T 1 . 7.8895 0.29669 0.2909:0.0:0.7091:0.0 rs7928451;rs52802337;rs7928451 117 Q8NH74 O10A6_HUMAN V 117 ENSP00000312470:A117V ENSP00000312470:A117V A - 2 0 OR10A6 7906436 0.001000 0.12720 0.974000 0.42286 0.856000 0.48823 0.547000 0.23299 0.606000 0.29965 0.655000 0.94253 GCA NOVEL OR10A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385703.1 6 16.25276 KEEP 0 0 0 54 1917 GG 1 0.999487 0 - 6 60 179 0 0 11.451032 76 60 2667 203 ENST00000309838.2 0.073171 0.999487 RIC3 79608 __UNKNOWN__ __UNKNOWN__ 11 8129296 8129296 __UNKNOWN__ 3'UTR SNP C C A rs4758042 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:8129296C>A ENST00000335425.7 - 0 3566 RIC3_ENST00000396677.2_3'UTR NM_001135109.2 NP_001128581.1 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone NA NA cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) CCTGGCTGCACCACCCACCTG 0.493 NA NA C||| 1957 0.390775 0.0325 0.4164 5008 , , NA 17754 0.4702 NA 0.6789 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1 11p15.4 2013-08-05 2013-08-05 ENSG00000166405 ENSG00000166405 79608 30338 protein-coding gene gene with protein product 610509 resistance to inhibitors of cholinesterase 3 homolog (C. elegans) NA 12821669 Standard NM_024557 NM_024557 NA Approved FLJ11608, PRO1385, AYST720 uc001mgd.2 Q7Z5B4 OTTHUMG00000165694 ENST00000335425.7:c.*2949G>T chr11.hg19:g.8129296C>A NA B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8 hg19 CCDS44533.1 0.02 1.581447 GCAxCAC COVERED NOVEL RIC3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000385829.1 1 7.523422 KEEP 0 0 0 25 864 CC 0.999931 0.984093 0 - 4 60 124 0 0 7.993714 54 60 1849 113 ENST00000335425.7 0.068966 0.984161 ST5 6764 __UNKNOWN__ __UNKNOWN__ 11 8739821 8739821 __UNKNOWN__ Intron SNP A A G rs56797102 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:8739821A>G ENST00000526099.1 - 1 119 ST5_ENST00000357665.1_Intron|ST5_ENST00000530991.1_Intron|ST5_ENST00000534127.1_Intron|ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Intron|ST5_ENST00000530438.1_Intron P78524 ST5_HUMAN suppression of tumorigenicity 5 NA NA positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851) Rab guanyl-nucleotide exchange factor activity (GO:0017112) NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CACCCCAGAGATAACACAGTT 0.567 NA NA A||| 462 0.0922524 0.0151 0.0317 5008 , , NA 11882 0.1964 NA 0.0497 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U15131 CCDS7791.1, CCDS7792.1 11p15 2012-10-04 ENSG00000166444 6764 DENN/MADD domain containing 11350 protein-coding gene gene with protein product DENN/MADD domain containing 2B 140750 NA 1390339 Standard NM_005418 NM_005418 NA Approved HTS1, DENND2B, p126 uc001mgt.3 P78524 ENST00000526099.1:c.16+84T>C chr11.hg19:g.8739821A>G NA B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6 hg19 0.02 -0.350871 GAGxTAA COVERED NOVEL ST5-009 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000386522.1 6 7.522169 KEEP 0 0 0 25 789 AA 0.999931 0.877647 0 - 4 60 146 0 0 10.862461 36 60 1141 87 ENST00000526099.1 0.1 0.877708 MICAL2 9645 __UNKNOWN__ __UNKNOWN__ 11 12265542 12265542 __UNKNOWN__ Silent SNP A A G rs2270511 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:12265542A>G ENST00000256194.4 + 21 2955 c.2667A>G c.(2665-2667)ctA>ctG p.L889L MICAL2_ENST00000342902.5_Silent_p.L889L|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 889 NA actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417) nucleus (GO:0005634) actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) AGAATAAACTACTCTCTAAAG 0.483 NA NA A||| 1047 0.209065 0.1551 0.2651 5008 , , NA 20969 0.2103 NA 0.168 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 A 794,3608 317.7+/-295.3 73,648,1480 316 275 289 2667 -10.5 0.4 11 dbSNP_100 289 1318,7270 259.5+/-282.7 98,1122,3074 no coding-synonymous MICAL2 NM_014632.2 171,1770,4554 GG,GA,AA 15.347,18.0373,16.2587 889/1125 12265542 2112,10878 2201 4294 6495 SO:0001819 synonymous_variant AB018293 CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1 11p15.3 2014-08-12 2013-03-26 ENSG00000133816 ENSG00000133816 9645 24693 protein-coding gene gene with protein product 608881 NA 12110185 Standard NM_014632 XM_005253249 NA Approved KIAA0750 uc001mjz.3 O94851 OTTHUMG00000165744 ENST00000256194.4:c.2667A>G chr11.hg19:g.12265542A>G NA B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8 hg19 CCDS7809.1 0.02 1.3827 ACTxCTC COVERED NOVEL MICAL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385993.1 5 20.147821 KEEP 0 0 0 67 1940 AA 1 0.999881 0 + 4 60 135 0 0 8.26811 88 60 2620 229 ENST00000256194.4 0.043478 0.999881 MICAL2 9645 __UNKNOWN__ __UNKNOWN__ 11 12265688 12265688 __UNKNOWN__ Intron SNP T T C rs2270512 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:12265688T>C ENST00000256194.4 + 21 3072 MICAL2_ENST00000342902.5_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 NA NA actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417) nucleus (GO:0005634) actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) TTGCTTTCCCTATTCCCTGCA 0.463 NA NA C||| 998 0.199281 0.1233 0.2608 5008 , , NA 22550 0.2083 NA 0.167 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 C 679,3723 760.8+/-413.0 52,575,1574 268 243 252 -7.5 0 11 dbSNP_100 252 1315,7273 754.5+/-407.5 97,1121,3076 no intron MICAL2 NM_014632.2 149,1696,4650 CC,CT,TT 15.3121,15.4248,15.3503 12265688 1994,10996 2201 4294 6495 SO:0001627 intron_variant AB018293 CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1 11p15.3 2014-08-12 2013-03-26 ENSG00000133816 ENSG00000133816 9645 24693 protein-coding gene gene with protein product 608881 NA 12110185 Standard NM_014632 XM_005253249 NA Approved KIAA0750 uc001mjz.3 O94851 OTTHUMG00000165744 ENST00000256194.4:c.2784+29T>C chr11.hg19:g.12265688T>C NA B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8 hg19 CCDS7809.1 0.02 4.079674 CCCxATT COVERED NOVEL MICAL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385993.1 10 19.856813 KEEP 0 0 0 66 2002 TT 1 0.999999 0 + 10 60 347 0 0 24.417684 113 60 3370 270 ENST00000256194.4 0.081301 0.999999 GTF2H1 2965 __UNKNOWN__ __UNKNOWN__ 11 18388482 18388482 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:18388482G>A ENST00000265963.4 + 0 2873 NM_005316.3 NP_005307.1 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 62kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032) core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 TGAACTTCGTGCCATATTTTG 0.308 NA NA Nucleotide excision repair (NER) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7838.1 11p15.1-p14 2012-11-05 2002-08-29 ENSG00000110768 ENSG00000110768 2965 General transcription factors, General transcription factor IIH complex subunits 4655 protein-coding gene gene with protein product 189972 general transcription factor IIH, polypeptide 1 (62kD subunit) NA 1529339, 8162052 Standard NM_005316 NM_005316 NA Approved BTF2, P62, TFIIH uc001moh.2 P32780 OTTHUMG00000167690 ENST00000265963.4:c.*1066G>A chr11.hg19:g.18388482G>A NA B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9 hg19 CCDS7838.1 0.02 1.103075 CGTxCCA COVERED NOVEL GTF2H1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395627.2 8 10.233512 KEEP 0 0 0 34 1205 GG 0.999998 0.999833 0 + 5 60 145 0 0 8.539322 84 60 2856 178 ENST00000265963.4 0.05618 0.999835 SLC17A6 57084 __UNKNOWN__ __UNKNOWN__ 11 22364758 22364758 __UNKNOWN__ Intron SNP C C T rs2278751 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:22364758C>T ENST00000263160.3 + 3 776 NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 NA NA ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672) L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGACTCTACTCTTTCCCTTCA 0.502 NA NA C||| 1253 0.2502 0.1513 0.2896 5008 , , NA 17600 0.0516 NA 0.4851 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 C 885,3521 337.8+/-305.0 97,691,1415 72 80 78 2.8 0 11 dbSNP_100 78 4039,4561 549.6+/-385.6 924,2191,1185 no intron SLC17A6 NM_020346.2 1021,2882,2600 TT,TC,CC 46.9651,20.0862,37.8594 22364758 4924,8082 2203 4300 6503 SO:0001627 intron_variant AB032435 CCDS7856.1 11p14.3 2013-07-18 2013-07-18 ENSG00000091664 ENSG00000091664 57084 Solute carriers 16703 protein-coding gene gene with protein product vesicular glutamate transporter 2, differentiation-associated Na-dependent inorganic phosphate cotransporter 607563 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 NA 11306821 Standard NM_020346 NM_020346 NA Approved DNPI, VGLUT2 uc001mqk.3 Q9P2U8 OTTHUMG00000166063 ENST00000263160.3:c.340-35C>T chr11.hg19:g.22364758C>T NA A6NKS2 hg19 CCDS7856.1 0.02 -0.429801 ACTxTTT COVERED NOVEL SLC17A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387671.1 3 6.019249 KEEP 0 0 0 20 680 CC 0.999863 0.95436 0 + 5 60 142 0 0 9.579824 44 60 1484 99 ENST00000263160.3 0.102041 0.954491 FSHB 2488 __UNKNOWN__ __UNKNOWN__ 11 30255982 30255982 __UNKNOWN__ 3'UTR SNP A A G rs676349 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:30255982A>G ENST00000417547.1 + 0 1064 FSHB_ENST00000254122.3_3'UTR|FSHB_ENST00000533718.1_3'UTR NM_001018080.1 NP_001018090.1 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide NA NA cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) hormone activity (GO:0005179) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 GACATGATGTATCTTTCTGAA 0.463 NA NA A||| 2791 0.557308 0.5567 0.5187 5008 , , NA 18474 0.6696 NA 0.4473 False NA ,,, NA NA NA 2504 0.5828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7868.1 11p13 2013-02-26 ENSG00000131808 2488 Endogenous ligands 3964 protein-coding gene gene with protein product follitropin, beta chain, follicle-stimulating hormone beta subunit 136530 NA 2885163, 3151250 Standard NM_000510 NM_000510 NA Approved uc001msm.3 P01225 ENST00000417547.1:c.*635A>G chr11.hg19:g.30255982A>G NA A2TF08|A5JVV3|Q14D61 hg19 CCDS7868.1 0.02 -0.263074 TGTxTCT COVERED NOVEL FSHB-003 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389757.1 1 5.415228 KEEP 0 0 0 18 533 AA 0.999859 0.693571 0 + 3 60 102 0 0 7.444427 26 60 743 68 ENST00000417547.1 0.103448 0.693668 PRRG4 79056 __UNKNOWN__ __UNKNOWN__ 11 32875125 32875125 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:32875125T>C ENST00000257836.3 + 0 986 NM_024081.5 NP_076986.1 Q9BZD6 TMG4_HUMAN proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) NA NA extracellular region (GO:0005576)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509) large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 7 Breast(20;0.206) Aggccgggcatggtggctcat 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 33 37 36 NA NA 11 NA 32875125 1294 2298 3592 SO:0001624 3_prime_UTR_variant AF326351 CCDS7881.1 11p13 2008-02-05 ENSG00000135378 ENSG00000135378 79056 30799 protein-coding gene gene with protein product 611690 NA 11171957 Standard NM_024081 NM_024081 NA Approved TMG4 uc001mtx.3 Q9BZD6 OTTHUMG00000166219 ENST00000257836.3:c.*52T>C chr11.hg19:g.32875125T>C NA hg19 CCDS7881.1 0.02 3.850635 GCAxGGT COVERED NOVEL PRRG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388446.1 26 11.036377 KEEP 3 3 110 75 2257 TT 1 0.999998 0 + 5 60 175 0 0 11.0174 107 60 3257 288 ENST00000257836.3 0.044643 0.999998 PRRG4 79056 __UNKNOWN__ __UNKNOWN__ 11 32875135 32875135 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:32875135T>C ENST00000257836.3 + 0 996 NM_024081.5 NP_076986.1 Q9BZD6 TMG4_HUMAN proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) NA NA extracellular region (GO:0005576)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509) large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 7 Breast(20;0.206) tggtggctcatgcctgtaatc 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF326351 CCDS7881.1 11p13 2008-02-05 ENSG00000135378 ENSG00000135378 79056 30799 protein-coding gene gene with protein product 611690 NA 11171957 Standard NM_024081 NM_024081 NA Approved TMG4 uc001mtx.3 Q9BZD6 OTTHUMG00000166219 ENST00000257836.3:c.*62T>C chr11.hg19:g.32875135T>C NA hg19 CCDS7881.1 0.02 3.81252 TCAxGCC COVERED NOVEL PRRG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388446.1 20 12.605976 KEEP 4 2 69 66 1998 TT 1 0.999993 0 + 5 60 173 0 0 10.961455 100 60 3023 262 ENST00000257836.3 0.047619 0.999993 EHF 26298 __UNKNOWN__ __UNKNOWN__ 11 34673092 34673092 __UNKNOWN__ Missense_Mutation SNP C C T rs574931620 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:34673092C>T ENST00000533754.1 + 5 627 c.410C>T c.(409-411)cCt>cTt p.P137L EHF_ENST00000257831.3_Missense_Mutation_p.P137L|EHF_ENST00000450654.2_Missense_Mutation_p.P137L|EHF_ENST00000530286.1_Missense_Mutation_p.P137L|EHF_ENST00000531794.1_Missense_Mutation_p.P159L ets homologous factor NA NA NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) TTTGTAGAGCCTTCCATCATG 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 94 91 92 NA NA 11 NA 34673092 2202 4298 6500 SO:0001583 missense AF170583 CCDS7894.1, CCDS55752.1, CCDS55753.1 11p12 2008-07-18 ENSG00000135373 26298 3246 protein-coding gene gene with protein product epithelium-specific ets factor 3, ESE3 transcription factor 605439 NA 10527851 Standard NM_012153 NM_012153 NA Approved ESE3, ESEJ uc021qfu.1 Q9NZC4 ENST00000533754.1:c.410C>T chr11.hg19:g.34673092C>T ENSP00000435837:p.Pro137Leu NA hg19 CCDS7894.1 0.02 1.948999 AGCxTTC COVERED . . . . . . . . . . C 13.86 2.363490 0.41902 . . ENSG00000135373 ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000525253;ENST00000531794;ENST00000532302 T;T;T;T;T;T;T;T 0.32988 3.22;2.85;3.22;3.22;1.43;1.47;3.2;1.45 6.17 5.25 0.73442 . 1.051240 0.07329 N 0.878918 T 0.32376 0.0827 L 0.29908 0.895 0.80722 D 1 P;B;B 0.48089 0.905;0.184;0.449 B;B;B 0.42959 0.403;0.159;0.17 T 0.11842 -1.0571 10 0.54805 T 0.06 . 16.8466 0.85982 0.1295:0.8705:0.0:0.0 . 159;137;137 E9PSB2;Q9NZC4-2;Q9NZC4 .;.;EHF_HUMAN L 137;137;137;137;137;137;159;137 ENSP00000257831:P137L;ENSP00000399733:P137L;ENSP00000433508:P137L;ENSP00000435837:P137L;ENSP00000432905:P137L;ENSP00000434395:P137L;ENSP00000435835:P159L;ENSP00000432460:P137L ENSP00000257831:P137L P + 2 0 EHF 34629668 1.000000 0.71417 1.000000 0.80357 0.599000 0.36880 3.503000 0.53340 1.575000 0.49775 0.655000 0.94253 CCT NOVEL EHF-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000389855.1 14 28.59245 KEEP 0 0 0 95 3337 CC 1 1 0 + 6 60 165 0 0 8.655774 133 60 4661 344 ENST00000533754.1 0.043165 1 TRIM44 54765 __UNKNOWN__ __UNKNOWN__ 11 35829003 35829003 __UNKNOWN__ 3'UTR SNP C C G rs597254 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:35829003C>G ENST00000299413.5 + 0 2410 NM_017583.4 NP_060053.2 Q96DX7 TRI44_HUMAN tripartite motif containing 44 NA NA intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) ATCTCCCACACCCTGGATCTC 0.468 NA NA C||| 1160 0.231629 0.0197 0.2248 5008 , , NA 16883 0.1736 NA 0.3907 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC024031 CCDS31461.1 11p13 2011-04-20 2011-01-25 ENSG00000166326 ENSG00000166326 54765 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 19016 protein-coding gene gene with protein product 612298 tripartite motif-containing 44 NA Standard NM_017583 NM_017583 NA Approved DIPB, MC7 uc001mwi.2 Q96DX7 OTTHUMG00000166312 ENST00000299413.5:c.*1068C>G chr11.hg19:g.35829003C>G NA D3DR14|Q96QY2|Q9UGK0 hg19 CCDS31461.1 0.02 1.719596 ACAxCCT COVERED NOVEL TRIM44-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389081.1 14 18.058069 KEEP 0 0 0 60 2080 CC 1 0.999956 0 + 4 60 147 0 0 9.353694 94 60 3248 217 ENST00000299413.5 0.040816 0.999956 ACP2 53 __UNKNOWN__ __UNKNOWN__ 11 47266808 47266808 __UNKNOWN__ Splice_Site SNP T T G rs2242261 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:47266808T>G ENST00000530453.1 - 5 467 c.452A>C c.(451-453)cAg>cCg p.Q151P ACP2_ENST00000256997.3_Intron|ACP2_ENST00000537863.1_Intron|ACP2_ENST00000527256.1_Intron|ACP2_ENST00000533929.1_Intron|ACP2_ENST00000529444.1_Intron P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 0 NA dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020) acid phosphatase activity (GO:0003993) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 GACCTGGGCCTGCTGAGAGGG 0.572 NA NA T||| 1814 0.36222 0.4554 0.2637 5008 , , NA 19665 0.6756 NA 0.1531 False NA ,,, NA NA NA 2504 0.1984 NA NA NA Melanoma(90;262 1440 11488 44828 48531) NA 0 T 1743,2659 520.6+/-370.3 332,1079,790 85 88 87 1.7 0.8 11 dbSNP_98 87 1282,7314 253.3+/-279.0 94,1094,3110 no intron ACP2 NM_001610.2 426,2173,3900 GG,GT,TT 14.9139,39.5956,23.2728 47266808 3025,9973 2201 4298 6499 SO:0001630 splice_region_variant X15525 CCDS7928.1, CCDS44583.1 11p11.2 2008-02-05 ENSG00000134575 ENSG00000134575 53 3.1.3.2 123 protein-coding gene gene with protein product 171650 NA 975882 Standard NM_001610 NM_001610 NA Approved uc001nei.3 P11117 OTTHUMG00000166949 ENST00000530453.1:c.451-1A>C chr11.hg19:g.47266808T>G NA E9PCI1|Q561W5|Q9BTU7 hg19 0.02 1.722049 GCCxGCT COVERED 779 0.3566849816849817 192 0.3902439024390244 101 0.27900552486187846 365 0.6381118881118881 121 0.15963060686015831 T 2.292 -0.362166 0.05103 0.395956 0.149139 ENSG00000134575 ENST00000530453 T 0.28666 1.6 4.11 1.66 0.24008 . . . . . T 0.00012 0.0000 . . . 0.53005 P 3.500000000000725E-5 . . . . . . T 0.36986 -0.9725 5 0.87932 D 0 . 2.3556 0.04294 0.2681:0.1405:0.0:0.5914 rs2242261;rs2242261 . . . P 151 ENSP00000434205:Q151P ENSP00000434205:Q151P Q - 2 0 ACP2 47223384 0.935000 0.31712 0.812000 0.32479 0.084000 0.17831 0.693000 0.25497 0.600000 0.29862 0.379000 0.24179 CAG NOVEL ACP2-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000392025.3 3 11.723942 KEEP 0 0 0 39 1162 TT 1 0.998695 0 Missense_Mutation - 5 60 163 0 0 10.743983 69 60 2060 157 ENST00000530453.1 0.067568 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 49402344 49402344 __UNKNOWN__ IGR SNP G G A rs192508398 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:49402344G>A NA NA CTD-2026G22.1 (1123 upstream) : RP11-707M1.1 (180025 downstream) NA NA NA ctgtaatcccggcactttagg 0.423 NA NA G||| 2 0.000399361 8e-04 0 5008 , , NA 16123 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr11.hg19:g.49402344G>A NA hg19 0.02 1.374663 CCCxGCA COVERED NOVEL 0 6 6.254587 KEEP 0 1 32 32 1075 GG 0.999998 0.986151 0 5 60 141 1 0 9.221627 50 60 1656 122 0.090909 0.986153 OR8H2 390151 __UNKNOWN__ __UNKNOWN__ 11 55872537 55872537 __UNKNOWN__ Missense_Mutation SNP A A G rs61746549 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:55872537A>G ENST00000313503.1 + 1 19 c.19A>G c.(19-21)Aac>Gac p.N7D NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 7 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.N7D(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TAGAAGGAATAACACAAATGT 0.438 NA NA HNSCC(53;0.14) N||| 4 0.000798722 8e-04 0.0014 5008 , , NA 18426 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 1 Substitution - Missense(1) kidney(1) 196 187 190 NA NA 11 NA 55872537 2201 4296 6497 SO:0001583 missense AB065657 CCDS31518.1 11q11 2012-08-09 ENSG00000181767 ENSG00000181767 390151 GPCR / Class A : Olfactory receptors 15308 protein-coding gene gene with protein product NA NA Standard NM_001005200 NM_001005200 NA Approved uc010riy.2 Q8N162 OTTHUMG00000166832 ENST00000313503.1:c.19A>G chr11.hg19:g.55872537A>G ENSP00000323982:p.Asn7Asp NA Q6IFC1 hg19 CCDS31518.1 0.02 4.237548 AATxACA COVERED 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 N 7.027 0.559788 0.13436 . . ENSG00000181767 ENST00000313503 T 0.00509 6.91 3.74 -2.34 0.06704 . 1.169330 0.06223 N 0.687064 T 0.00300 0.0009 N 0.17723 0.515 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.41805 -0.9488 10 0.30854 T 0.27 . 0.2174 0.00164 0.3775:0.1477:0.1868:0.288 rs61746549 7 Q8N162 OR8H2_HUMAN D 7 ENSP00000323982:N7D ENSP00000323982:N7D N + 1 0 OR8H2 55629113 0.000000 0.05858 0.001000 0.08648 0.011000 0.07611 -1.679000 0.01940 -0.566000 0.06054 -1.639000 0.00775 AAC NOVEL OR8H2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391540.1 14 10.72275 KEEP 1 3 92 68 1954 AA 1 0.999989 0 + 11 49 381 0 0 27.963877 96 60 2801 250 ENST00000313503.1 0.102804 0.999989 MED19 219541 __UNKNOWN__ __UNKNOWN__ 11 57471330 57471330 __UNKNOWN__ 3'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:57471330A>C ENST00000431606.2 - 0 944 MED19_ENST00000337672.2_3'UTR A0JLT2 MED19_HUMAN mediator complex subunit 19 NA NA mediator complex (GO:0016592)|nucleus (GO:0005634) RNA polymerase II transcription cofactor activity (GO:0001104) cervix(1)|large_intestine(1)|lung(1)|ovary(2) 5 GGATGAGCCTACAAAAGCATG 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY148462 CCDS7966.1 11q12.1 2008-02-05 2007-07-30 ENSG00000156603 ENSG00000156603 219541 29600 protein-coding gene gene with protein product 612385 mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae) NA 9417904 Standard NM_153450 NM_153450 NA Approved LCMR1 uc001nlb.3 A0JLT2 OTTHUMG00000167199 ENST00000431606.2:c.*180T>G chr11.hg19:g.57471330A>C NA Q8IV02|Q8IZD1 hg19 0.02 1.886368 CCTxCAA COVERED NOVEL MED19-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000393702.1 1 7.553334 KEEP 0 1 34 37 1060 AA 1 0.999218 0 - 8 60 277 0 0 20.319377 70 60 2043 162 ENST00000431606.2 0.102564 0.999218 FAM111B 374393 __UNKNOWN__ __UNKNOWN__ 11 58893941 58893941 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:58893941G>A ENST00000343597.3 + 0 2562 FAM111B_ENST00000411426.1_3'UTR NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B NA NA catalytic activity (GO:0003824) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 cacaacctacggaatgggaga 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC062456 CCDS7972.1, CCDS44611.1 11q12.1 2014-03-13 ENSG00000189057 ENSG00000189057 374393 24200 protein-coding gene gene with protein product 615584 NA 24268661 Standard NM_198947 NM_198947 NA Approved CANP uc001nnl.3 Q6SJ93 OTTHUMG00000167279 ENST00000343597.3:c.*166G>A chr11.hg19:g.58893941G>A NA B4E2G2|Q6P661 hg19 CCDS7972.1 0.02 4.236674 TACxGAA COVERED NOVEL FAM111B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393974.1 26 18.227396 KEEP 0 5 149 113 3697 GG 1 1 0 + 7 60 203 0 0 10.721217 179 60 5929 452 ENST00000343597.3 0.037634 1 CPSF7 79869 __UNKNOWN__ __UNKNOWN__ 11 61186769 61186769 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:61186769T>C ENST00000439958.3 - 5 679 CPSF7_ENST00000394888.4_Intron|CPSF7_ENST00000340437.4_Intron|CPSF7_ENST00000448745.1_Intron NM_001142565.1 NP_001136037.1 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 gctgggattataggcgtgagc 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8006.2, CCDS44619.1, CCDS44620.1 11q12.2 2013-06-18 ENSG00000149532 ENSG00000149532 79869 RNA binding motif (RRM) containing 30098 protein-coding gene gene with protein product pre mRNA cleavage factor I, 59 kDa subunit, cleavage factor Im complex 59 kDa subunit NA NA 12477932 Standard NM_024811 NM_024811 NA Approved FLJ12529 uc001nrp.3 Q8N684 OTTHUMG00000168198 ENST00000439958.3:c.523+651A>G chr11.hg19:g.61186769T>C NA B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1 hg19 CCDS44620.1 0.02 1.947802 TTAxAGG COVERED NOVEL CPSF7-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347834.2 10 6.316777 KEEP 0 0 0 21 609 TT 0.999869 0.997767 0 - 4 60 141 0 0 9.659512 55 60 1553 131 ENST00000439958.3 0.067797 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 63177779 63177779 __UNKNOWN__ IGR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:63177779G>A NA NA SLC22A9 (13 upstream) : HRASLS5 (51106 downstream) NA NA NA ACAAGATATAGTGAGTCAGTA 0.274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr11.hg19:g.63177779G>A NA hg19 0.02 7.504815 ATAxTGA COVERED NOVEL 0 239 33.408441 KEEP 0 0 0 111 3882 GG 1 1 0 14 60 402 0 0 22.546316 277 60 9530 498 0.04811 1 LGALS12 85329 __UNKNOWN__ __UNKNOWN__ 11 63275563 63275563 __UNKNOWN__ Intron SNP C C T rs10897430 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:63275563C>T ENST00000340246.5 + 2 165 LGALS12_ENST00000415491.2_5'UTR|LGALS12_ENST00000255684.5_Intron|LGALS12_ENST00000394618.3_Intron|LGALS12_ENST00000425950.2_5'UTR Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 NA NA intrinsic apoptotic signaling pathway (GO:0097193) nucleus (GO:0005634) lactose binding (GO:0030395) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 TTGTTAAGTGCCTCTCCAGGG 0.522 NA NA T||| 2973 0.59365 0.6997 0.5259 5008 , , NA 18661 0.4306 NA 0.6233 False NA ,,, NA NA NA 2504 0.636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF222695 CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1 11q13 2011-08-04 2008-07-25 ENSG00000133317 ENSG00000133317 85329 Lectins, galactoside-binding 15788 protein-coding gene gene with protein product galectin 12 606096 NA 11283015, 11435439 Standard NM_033101 NM_033101 NA Approved GRIP1 uc001nxc.2 Q96DT0 OTTHUMG00000167807 ENST00000340246.5:c.136-462C>T chr11.hg19:g.63275563C>T NA B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02 hg19 CCDS44633.1 0.02 1.427788 GTGxCTC COVERED NOVEL LGALS12-002 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396379.2 6 5.918462 KEEP 0 1 35 32 1085 CC 0.999998 0.970818 0 + 5 60 146 0 0 9.802873 48 60 1658 113 ENST00000340246.5 0.09434 0.97082 FLRT1 23769 __UNKNOWN__ __UNKNOWN__ 11 63884027 63884027 __UNKNOWN__ Silent SNP C C T rs614035 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:63884027C>T ENST00000246841.3 + 2 1331 c.288C>T c.(286-288)gcC>gcT p.A96A MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 68 NA cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578) protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057) breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 TCAACAACGCCGGCATCCCCC 0.567 NA NA C||| 2034 0.40615 0.1475 0.5519 5008 , , NA 21458 0.3254 NA 0.6968 False NA ,,, NA NA NA 2504 0.4366 NA NA NA NA 0 C , 1018,3384 376.1+/-321.9 114,790,1297 85 67 73 288, -11.1 0 11 dbSNP_83 73 5873,2721 680.9+/-403.7 2026,1821,450 no coding-synonymous,intron FLRT1,MACROD1 NM_013280.4,NM_014067.3 , 2140,2611,1747 TT,TC,CC 31.6616,23.1259,46.976 , 96/675, 63884027 6891,6105 2201 4297 6498 SO:0001819 synonymous_variant AF169675 CCDS8057.1 11q13.1 2014-03-03 23769 Fibronectin type III domain containing 3760 protein-coding gene gene with protein product 604806 NA 10644439, 24482476 Standard NM_013280 NM_013280 NA Approved MGC21624, SPG68 uc001nyi.1 Q9NZU1 ENST00000246841.3:c.288C>T chr11.hg19:g.63884027C>T NA Q8WVA2 hg19 CCDS8057.1 0.02 4.407256 CGCxGGC COVERED NOVEL FLRT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396287.2 6 30.997818 KEEP 0 0 0 103 3460 CC 1 1 0 + 7 60 209 0 0 11.894882 147 60 4878 340 ENST00000246841.3 0.045455 1 NUDT22 84304 __UNKNOWN__ __UNKNOWN__ 11 63994692 63994692 __UNKNOWN__ Intron SNP T T C rs1860368 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:63994692T>C ENST00000279206.3 + 2 636 NUDT22_ENST00000441250.2_Intron NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 NA NA hydrolase activity (GO:0016787) breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 TTTGGTTTCCTCATTCCTTAA 0.567 NA NA T||| 3485 0.695887 0.649 0.5706 5008 , , NA 19307 0.7381 NA 0.6819 False NA ,,, NA NA NA 2504 0.819 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC006129 CCDS8061.1, CCDS44640.1 11q13.1 2008-02-05 ENSG00000149761 ENSG00000149761 84304 Nudix motif containing 28189 protein-coding gene gene with protein product NA NA 12477932 Standard NM_032344 NM_032344 NA Approved MGC13045 uc009ype.4 Q9BRQ3 OTTHUMG00000167791 ENST00000279206.3:c.480+88T>C chr11.hg19:g.63994692T>C NA C9JY06|Q71RD5 hg19 CCDS8061.1 0.02 6.124308 TCCxCAT COVERED 1485 0.679945054945055 338 0.6869918699186992 215 0.5939226519337016 417 0.7290209790209791 515 0.679419525065963 T 5.325 0.245298 0.10077 . . ENSG00000149761 ENST00000536237 . . . 3.14 -0.845 0.10737 . . . . . . . . . . . 0.80722 P 0.0 . . . . . . . . . . . . . . 2.4697 0.04561 0.4343:0.1321:0.0:0.4336 rs1860368;rs12803071;rs60497665;rs1860368 . . . . -1 . . . + . . NUDT22 63751268 0.000000 0.05858 0.001000 0.08648 0.027000 0.11550 0.296000 0.19083 -0.159000 0.11021 0.459000 0.35465 . NOVEL NUDT22-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396304.2 10 38.434262 KEEP 0 0 0 128 3948 TT 1 1 0 + 9 60 314 0 0 20.033896 178 60 5508 422 ENST00000279206.3 0.048128 1 C11orf85 283129 __UNKNOWN__ __UNKNOWN__ 11 64707978 64707978 __UNKNOWN__ Intron SNP A A G rs586616 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:64707978A>G ENST00000301896.5 - 9 620 C11orf85_ENST00000530444.1_Intron|C11orf85_ENST00000536065.1_Intron|C11orf85_ENST00000432175.1_Intron NM_001037225.1 NP_001032302.1 Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 NA NA breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 GCTGCTCTACATATCAGAGAA 0.502 NA NA A||| 1516 0.302716 0.1891 0.3012 5008 , , NA 18470 0.1815 NA 0.6014 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093130, BC033501 CCDS31603.1, CCDS73316.1 11q13.1 2012-08-10 ENSG00000168070 ENSG00000168070 283129 27441 protein-coding gene gene with protein product NA NA 14702039 Standard NM_001037225 XM_005273918 NA Approved uc001ocb.1 Q3KP22 ENST00000301896.5:c.546+67T>C chr11.hg19:g.64707978A>G NA B3KS99 hg19 CCDS31603.1 0.02 -0.324521 TACxTAT COVERED NOVEL C11orf85-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385477.1 1 3.911364 KEEP 0 0 0 13 397 AA 0.994391 0.831028 0 - 3 60 102 0 0 7.111847 34 60 1028 69 ENST00000301896.5 0.081081 0.835716 C11orf85 283129 __UNKNOWN__ __UNKNOWN__ 11 64726701 64726701 __UNKNOWN__ Intron SNP A A C rs602404 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:64726701A>C ENST00000301896.5 - 3 175 C11orf85_ENST00000530444.1_Intron|C11orf85_ENST00000536065.1_Intron|C11orf85_ENST00000432175.1_Intron NM_001037225.1 NP_001032302.1 Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 NA NA breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 GGTGAAGGTAAAGAAGAGGTG 0.398 NA NA A||| 1510 0.301518 0.1868 0.2997 5008 , , NA 17400 0.1815 NA 0.5994 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093130, BC033501 CCDS31603.1, CCDS73316.1 11q13.1 2012-08-10 ENSG00000168070 ENSG00000168070 283129 27441 protein-coding gene gene with protein product NA NA 14702039 Standard NM_001037225 XM_005273918 NA Approved uc001ocb.1 Q3KP22 ENST00000301896.5:c.101+75T>G chr11.hg19:g.64726701A>C NA B3KS99 hg19 CCDS31603.1 0.02 -0.298215 GTAxAGA COVERED NOVEL C11orf85-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385477.1 2 6.018264 KEEP 0 0 0 20 633 AA 0.999863 0.780953 0 - 3 60 102 0 0 7.226373 31 60 947 72 ENST00000301896.5 0.088235 0.78106 CTD-3074O7.11 0 __UNKNOWN__ __UNKNOWN__ 11 66288296 66288296 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:66288296C>G ENST00000419755.3 + 9 912 BBS1_ENST00000455748.2_Intron|BBS1_ENST00000537537.1_Intron|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000529766.1_Intron|BBS1_ENST00000318312.7_Intron NA NA NA cctatgccacctgggctcaaa 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000419755.3:c.835-445C>G chr11.hg19:g.66288296C>G NA hg19 0.02 3.958901 CACxTGG COVERED NOVEL CTD-3074O7.11-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000395848.2 24 16.991004 KEEP 0 1 36 69 2415 CC 1 0.999997 0 + 10 60 332 0 0 23.597188 96 60 3374 266 ENST00000419755.3 0.09434 0.999997 TPCN2 219931 __UNKNOWN__ __UNKNOWN__ 11 68821551 68821551 __UNKNOWN__ Missense_Mutation SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:68821551G>A ENST00000294309.3 + 2 261 c.160G>A c.(160-162)Gaa>Aaa p.E54K TPCN2_ENST00000542467.1_Missense_Mutation_p.E54K NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 54 NA calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGTCTTCATCGAAGATGCTAT 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 111 77 89 NA NA 11 NA 68821551 2200 4294 6494 SO:0001583 missense AK023366 CCDS8189.1 11q13.1 2011-07-05 ENSG00000162341 ENSG00000162341 219931 Voltage-gated ion channels / Two-pore channels 20820 protein-coding gene gene with protein product 612163 NA 16382101 Standard NM_139075 NM_139075 NA Approved TPC2 uc001oos.2 Q8NHX9 OTTHUMG00000167898 ENST00000294309.3:c.160G>A chr11.hg19:g.68821551G>A ENSP00000294309:p.Glu54Lys NA Q9NT82 hg19 CCDS8189.1 0.02 1.172917 ATCxAAG COVERED . . . . . . . . . . G 17.68 3.448356 0.63178 . . ENSG00000162341 ENST00000294309;ENST00000535009;ENST00000542467 D;D 0.97328 -4.31;-4.34 3.86 3.86 0.44501 . 0.000000 0.85682 D 0.000000 D 0.97424 0.9157 M 0.74881 2.28 0.58432 D 0.999998 D;D;B 0.67145 0.996;0.983;0.009 P;P;B 0.54060 0.741;0.509;0.001 D 0.97835 1.0265 10 0.59425 D 0.04 -8.3147 16.2926 0.82758 0.0:0.0:1.0:0.0 . 54;54;54 E7ETX0;Q8NHX9;F5H1G5 .;TPC2_HUMAN;. K 54 ENSP00000294309:E54K;ENSP00000445551:E54K ENSP00000294309:E54K E + 1 0 TPCN2 68578127 1.000000 0.71417 0.936000 0.37596 0.012000 0.07955 5.646000 0.67916 2.119000 0.64992 0.557000 0.71058 GAA NOVEL TPCN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396878.2 2 18.658649 KEEP 0 0 0 62 2067 GG 1 0.999487 0 + 5 60 135 0 0 7.739949 77 60 2544 197 ENST00000294309.3 0.060976 0.999487 FGF4 2249 __UNKNOWN__ __UNKNOWN__ 11 69588020 69588020 __UNKNOWN__ 3'UTR SNP C C T rs376208601|rs3740639 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:69588020C>T ENST00000168712.1 - 0 996 NM_002007.2 NP_001998.1 P08620 FGF4_HUMAN fibroblast growth factor 4 NA NA apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827) cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634) growth factor activity (GO:0008083)|heparin binding (GO:0008201) lung(3) 3 Melanoma(5;1.89e-05) LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278) Pentosan Polysulfate(DB00686) CCAAGGTGACCCTCGGCACTG 0.493 NA NA C||| 883 0.176318 0.0893 0.1931 5008 , , NA 17364 0.1627 NA 0.2654 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M17446 CCDS8194.1 11q13.3 2014-01-30 2008-08-01 ENSG00000075388 ENSG00000075388 2249 Endogenous ligands 3682 protein-coding gene gene with protein product human stomach cancer, transforming factor from FGF-related oncogene, kaposi sarcoma oncogene, transforming protein KS3 164980 heparin secretory transforming protein 1 HSTF1 NA 1611909 Standard NM_002007 NM_002007 NA Approved K-FGF, HBGF-4, HST, HST-1, KFGF uc001opg.1 P08620 OTTHUMG00000167887 ENST00000168712.1:c.*57G>A chr11.hg19:g.69588020C>T NA B7U994 hg19 CCDS8194.1 0.02 -0.271951 GACxCTC COVERED NOVEL FGF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396834.2 1 6.60444 KEEP 0 0 0 22 717 CC 0.999879 0.717228 0 - 4 60 125 0 0 9.233732 27 60 945 67 ENST00000168712.1 0.129032 0.717315 PDE2A 5138 __UNKNOWN__ __UNKNOWN__ 11 72287233 72287233 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:72287233G>A ENST00000334456.5 - 0 4266 PDE2A_ENST00000376450.3_3'UTR|PDE2A_ENST00000444035.2_3'UTR NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated NA NA blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626) axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734) calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Caffeine(DB00201)|Tofisopam(DB08811) GTCAGCCCACGGGACCATATA 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U67733 CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1 11q13.1-q14.1 2008-05-14 ENSG00000186642 ENSG00000186642 5138 3.1.4.17 Phosphodiesterases 8777 protein-coding gene gene with protein product 602658 NA 9210593 Standard NM_002599 NM_002599 NA Approved uc010rrc.2 O00408 OTTHUMG00000102045 ENST00000334456.5:c.*1195C>T chr11.hg19:g.72287233G>A NA B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1 hg19 CCDS8216.1 0.02 1.464808 CACxGGA COVERED NOVEL PDE2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219839.2 2 10.531985 KEEP 0 0 0 35 1149 GG 0.999999 0.987942 0 - 4 60 125 0 0 8.031493 56 60 1862 135 ENST00000334456.5 0.066667 0.987943 P2RY6 5031 __UNKNOWN__ __UNKNOWN__ 11 73009330 73009330 __UNKNOWN__ 3'UTR SNP C C G rs377759807 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:73009330C>G ENST00000393590.2 + 0 2066 NM_001277207.1|NM_001277208.1 NP_001264136.1|NP_001264137.1 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 6 NA NA phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2) 14 CTGGGCCAGCCTCGTGCTGGG 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8220.1 11q13.5 2012-08-08 ENSG00000171631 5031 Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y 8543 protein-coding gene gene with protein product 602451 NA 8670200 Standard NM_176797 NA Approved P2Y6 uc001otr.4 Q15077 ENST00000393590.2:c.*780C>G chr11.hg19:g.73009330C>G NA Q15754 hg19 CCDS8220.1 0.02 1.690033 AGCxTCG COVERED NOVEL P2RY6-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397349.1 1 4.951833 KEEP 0 1 36 29 996 CC 0.999997 0.999859 0 + 10 60 311 0 0 22.193996 81 60 2795 178 ENST00000393590.2 0.10989 0.999862 LRRC32 2615 __UNKNOWN__ __UNKNOWN__ 11 76370097 76370097 __UNKNOWN__ Intron SNP C C T rs140273382 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:76370097C>T ENST00000464145.1 - 2 101 LRRC32_ENST00000407242.2_3'UTR|LRRC32_ENST00000260061.5_3'UTR|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Intron Q14392 LRC32_HUMAN leucine rich repeat containing 32 NA NA negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628) integral component of plasma membrane (GO:0005887) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 TCTCAGAAGACGTGACAAACA 0.512 NA NA C||| 12 0.00239617 0 0 5008 , , NA 20406 0 NA 0.006 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z24680 CCDS8245.1 11q13.5-q14 2008-02-05 2005-02-25 2005-02-25 ENSG00000137507 ENSG00000137507 2615 4161 protein-coding gene gene with protein product 137207 glycoprotein A repetitions predominant D11S833E, GARP NA 8180135, 1543912 Standard NM_005512 NM_005512 NA Approved uc001oxq.4 Q14392 OTTHUMG00000133687 ENST00000464145.1:c.466-1019G>A chr11.hg19:g.76370097C>T NA Q86V06 hg19 0.02 4.037351 AGAxGTG COVERED NOVEL LRRC32-003 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000257928.1 4 23.907809 KEEP 0 1 30 90 2981 CC 1 1 0 - 7 60 200 0 0 10.407032 180 60 5904 363 ENST00000464145.1 0.037433 1 ACER3 55331 __UNKNOWN__ __UNKNOWN__ 11 76735506 76735506 __UNKNOWN__ 3'UTR SNP C C T rs191718663 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:76735506C>T ENST00000532485.1 + 0 5043 NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 NA NA ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173) phytoceramidase activity (GO:0070774) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 CACTTCTACACGTGAAATTCA 0.398 NA NA C||| 1 0.000199681 0 0 5008 , , NA 16335 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF214454 CCDS8247.1, CCDS73352.1 11q13.5 2013-01-25 2008-12-19 2008-12-19 ENSG00000078124 ENSG00000078124 55331 3.5.1.23 Alkaline ceramidase 16066 protein-coding gene gene with protein product alkaline phytoceramidase NA phytoceramidase, alkaline PHCA NA 11356846, 18619555 Standard NM_018367 XM_005274090 NA Approved FLJ11238, APHC uc009yum.1 Q9NUN7 OTTHUMG00000165225 ENST00000532485.1:c.*4135C>T chr11.hg19:g.76735506C>T NA B2RC99 hg19 CCDS8247.1 0.02 -0.421044 ACAxGTG COVERED NOVEL ACER3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382770.2 7 4.814925 KEEP 0 0 0 16 536 CC 0.997832 0.946346 0 + 4 60 122 0 0 8.171759 43 60 1399 85 ENST00000532485.1 0.085106 0.948402 ANKRD42 338699 __UNKNOWN__ __UNKNOWN__ 11 82925210 82925210 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:82925210T>C ENST00000531895.1 + 5 859 ANKRD42_ENST00000393392.2_Intron|ANKRD42_ENST00000526731.1_3'UTR|ANKRD42_ENST00000533342.1_Intron|ANKRD42_ENST00000393389.3_3'UTR|ANKRD42_ENST00000260047.6_Intron Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 NA NA positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092) nucleus (GO:0005634) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 ggattacaggtgtgagccacc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095193 CCDS8265.1, CCDS73355.1, CCDS73356.1 11q14.1 2014-06-12 ENSG00000137494 ENSG00000137494 338699 Ankyrin repeat domain containing 26752 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 79 NA NA Standard NM_182603 XM_005273971 NA Approved FLJ37874, SARP, PPP1R79 uc001ozz.1 Q8N9B4 OTTHUMG00000167075 ENST00000531895.1:c.586+2738T>C chr11.hg19:g.82925210T>C NA Q49A49 hg19 0.02 1.941502 AGGxGTG COVERED NOVEL ANKRD42-002 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000392933.1 13 6.015901 KEEP 0 0 0 20 577 TT 0.999869 0.963648 0 + 4 60 135 0 0 9.432735 44 60 1211 95 ENST00000531895.1 0.083333 0.963774 KIAA1731 85459 __UNKNOWN__ __UNKNOWN__ 11 93456144 93456144 __UNKNOWN__ Intron SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:93456144T>G ENST00000531700.1 + 8 944 KIAA1731_ENST00000325212.6_Intron|KIAA1731_ENST00000344196.4_Intron|KIAA1731_ENST00000411936.1_Intron Q9C0D2 K1731_HUMAN KIAA1731 NA NA centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) aaagtgctggtattacaggcg 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051518 CCDS44708.1 11q21 2014-03-11 ENSG00000166004 ENSG00000166004 85459 29366 protein-coding gene gene with protein product NA NA 20844083 Standard NM_033395 NM_033395 NA Approved uc009ywb.1 Q9C0D2 OTTHUMG00000167449 ENST00000531700.1:c.488-63T>G chr11.hg19:g.93456144T>G NA C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8 hg19 0.02 2.187925 TGGxATT COVERED NOVEL KIAA1731-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000394642.1 7 5.246857 KEEP 0 1 33 29 841 TT 0.999997 0.981953 0 + 4 60 147 0 0 10.385162 51 60 1437 113 ENST00000531700.1 0.072727 0.981955 TMEM133 83935 __UNKNOWN__ __UNKNOWN__ 11 100863096 100863096 __UNKNOWN__ Silent SNP A A G rs515552 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:100863096A>G ENST00000303130.2 + 1 286 c.57A>G c.(55-57)gaA>gaG p.E19E NM_032021.2 NP_114410.1 Q9H2Q1 TM133_HUMAN transmembrane protein 133 19 NA integral component of membrane (GO:0016021) kidney(2)|large_intestine(1)|lung(1)|prostate(1) 5 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) CAGGTCACGAAAAAGAACACA 0.433 NA NA A||| 1944 0.388179 0.1248 0.3977 5008 , , NA 21672 0.7579 NA 0.2028 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 A 592,3814 250.0+/-257.2 44,504,1655 88 83 85 57 -0.3 0 11 dbSNP_83 85 1808,6792 314.1+/-311.6 200,1408,2692 no coding-synonymous TMEM133 NM_032021.2 244,1912,4347 GG,GA,AA 21.0233,13.4362,18.453 19/130 100863096 2400,10606 2203 4300 6503 SO:0001819 synonymous_variant AF247167 CCDS8309.1 11q22.1 2006-03-09 ENSG00000170647 83935 24033 protein-coding gene gene with protein product NA NA 12477932 Standard NM_032021 NM_032021 NA Approved AD031 uc001pgf.3 Q9H2Q1 ENST00000303130.2:c.57A>G chr11.hg19:g.100863096A>G NA hg19 CCDS8309.1 0.02 1.628721 CGAxAAA COVERED NOVEL TMEM133-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395137.1 5 15.343261 KEEP 0 0 0 51 1562 AA 1 0.999948 0 + 4 60 137 0 0 8.356635 94 60 2874 210 ENST00000303130.2 0.040816 0.999948 CASP1 834 __UNKNOWN__ __UNKNOWN__ 11 104905208 104905208 __UNKNOWN__ Intron SNP A A G rs2509650 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:104905208A>G ENST00000528974.1 - 2 41 CASP1_ENST00000527979.1_5'UTR|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000436863.3_Intron|CASP1_ENST00000525825.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000533400.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Intron|CASP1_ENST00000534497.1_Intron P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165) AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559) cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017) TTGTCTGTTTAGAGCACAAGG 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(41;1246 1743 4934) NA 0 232 224 227 NA NA 11 NA 104905208 2202 4299 6501 SO:0001627 intron_variant U13697 CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1 11q23 2012-02-29 2012-02-29 ENSG00000137752 ENSG00000137752 834 Caspases 1499 protein-coding gene gene with protein product caspase-1, interleukin 1, beta, convertase 147678 caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase), caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) IL1BC NA 1373520, 9250871 Standard NM_033292 NM_033292 NA Approved ICE uc001pim.5 P29466 OTTHUMG00000048072 ENST00000528974.1:c.24-93T>C chr11.hg19:g.104905208A>G NA B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3 hg19 0.02 5.886052 TTTxGAG COVERED NOVEL CASP1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388122.1 11 10.437806 KEEP 1 6 213 109 3350 AA 1 1 0 - 14 49 484 1 0 33.829704 163 60 4963 442 ENST00000528974.1 0.079096 1 SLC35F2 54733 __UNKNOWN__ __UNKNOWN__ 11 107729561 107729561 __UNKNOWN__ 5'UTR SNP T T C rs3741065 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:107729561T>C ENST00000525815.1 - 0 353 SLC35F2_ENST00000525071.1_5'UTR|SLC35F2_ENST00000429869.1_5'UTR NM_017515.4 NP_059985.2 Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CGGGAGGCGGTGCCTGTGCGG 0.756 NA NA t||| 2224 0.444089 0.4554 0.5245 5008 , , NA 13506 0.4435 NA 0.4463 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS41709.1 11q22.3 2013-05-22 ENSG00000110660 ENSG00000110660 54733 Solute carriers 23615 protein-coding gene gene with protein product NA NA 9119394 Standard NM_017515 NM_017515 NA Approved FLJ13018 uc001pjq.3 Q8IXU6 OTTHUMG00000166366 ENST00000525815.1:c.-68A>G chr11.hg19:g.107729561T>C NA Q14963|Q5JPA8|Q6ZRQ3|Q9H947 hg19 CCDS41709.1 0.02 -0.298154 CGGxGCC COVERED NOVEL SLC35F2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389417.1 1 6.555673 KEEP 0 0 0 22 603 TT 0.999879 0.780965 0 - 4 60 145 0 0 11.061732 30 60 865 64 ENST00000525815.1 0.117647 0.78106 ATM 472 __UNKNOWN__ __UNKNOWN__ 11 108237993 108237993 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:108237993T>C ENST00000452508.2 + 0 11118 ATM_ENST00000278616.4_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron Q13315 ATM_HUMAN ATM serine/threonine kinase NA NA brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723) cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) Caffeine(DB00201) ggattacaggtgtgagccacc 0.488 NA NA D, Mis, N, F, S T-PLL leukemia, lymphoma, medulloblastoma, glioma Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes Ataxia-telangiectasia 11 11q22.3 472 ataxia telangiectasia mutated L, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database AT, Louis-Bar syndrome AB209133 CCDS31669.1 11q22-q23 2014-09-17 2014-06-17 ENSG00000149311 ENSG00000149311 472 795 protein-coding gene gene with protein product TEL1, telomere maintenance 1, homolog (S. cerevisiae) 607585 ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated ATA, ATDC, ATC, ATD NA Standard NM_000051 XM_005271561 NA Approved TEL1, TELO1 uc001pkb.1 Q13315 OTTHUMG00000166480 ENST00000452508.2:c.*1758T>C chr11.hg19:g.108237993T>C NA B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7 hg19 CCDS31669.1 0.02 1.836118 AGGxGTG COVERED NOVEL ATM-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389938.1 8 4.543826 KEEP 3 1 34 27 775 TT 0.999997 0.992091 0 + 5 60 178 0 0 12.714147 55 60 1585 135 ENST00000452508.2 0.083333 0.992094 TEX12 56158 __UNKNOWN__ __UNKNOWN__ 11 112043029 112043029 __UNKNOWN__ 3'UTR SNP A A G rs4937123 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:112043029A>G ENST00000280358.4 + 0 894 RP11-356J5.4_ENST00000527589.1_RNA|SDHD_ENST00000525468.1_Intron|AP002884.3_ENST00000532612.1_Intron|SDHD_ENST00000532699.1_Intron NM_031275.4 NP_112565.1 Q9BXU0 TEX12_HUMAN testis expressed 12 NA NA meiotic DNA repair synthesis (GO:0000711)|synaptonemal complex assembly (GO:0007130) central element (GO:0000801) endometrium(1)|large_intestine(2)|lung(1) 4 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) atacttttagaatattttgtt 0.219 NA NA A||| 2084 0.416134 0.3268 0.3501 5008 , , NA 12237 0.4425 NA 0.34 False NA ,,, NA NA NA 2504 0.635 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF285600 CCDS31679.1 11q23.1 2013-09-20 2007-03-13 56158 11734 protein-coding gene gene with protein product 605791 testis expressed sequence 12 NA 11279525 Standard NM_031275 NA Approved uc001pnc.3 Q9BXU0 ENST00000280358.4:c.*390A>G chr11.hg19:g.112043029A>G NA A6NDL9|B0YIX3 hg19 CCDS31679.1 0.02 -0.298228 TAGxATA COVERED NOVEL TEX12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392417.1 4 4.813049 KEEP 0 0 0 16 478 AA 0.997832 0.779366 0 + 3 60 101 0 0 7.12642 31 60 963 55 ENST00000280358.4 0.088235 0.78106 BACE1 23621 __UNKNOWN__ __UNKNOWN__ 11 117161643 117161643 __UNKNOWN__ Missense_Mutation SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:117161643C>G ENST00000313005.6 - 7 1525 c.1065G>C c.(1063-1065)caG>caC p.Q355H BACE1_ENST00000510630.1_Missense_Mutation_p.Q230H|BACE1_ENST00000513780.1_Missense_Mutation_p.Q330H|BACE1_ENST00000445823.2_Missense_Mutation_p.Q311H|BACE1_ENST00000428381.2_Missense_Mutation_p.Q286H|BACE1_ENST00000528053.1_Missense_Mutation_p.Q321H|BACE1_ENST00000392937.6_Missense_Mutation_p.Q255H NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 355 NA beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508) axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899) breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) TGCGGAAGGACTGGTTGGTAA 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 170 143 152 NA NA 11 NA 117161643 2201 4296 6497 SO:0001583 missense AF190725 CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1 11q23-q24 2011-07-27 2004-04-02 2004-04-02 ENSG00000186318 ENSG00000186318 23621 933 protein-coding gene gene with protein product 604252 beta-site APP-cleaving enzyme BACE NA 10531052 Standard NM_012104 NA Approved uc001pqz.3 P56817 OTTHUMG00000160636 ENST00000313005.6:c.1065G>C chr11.hg19:g.117161643C>G ENSP00000318585:p.Gln355His NA A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1 hg19 CCDS8383.1 0.02 -0.359667 GGAxTGG COVERED . . . . . . . . . . C 27.4 4.829286 0.90955 . . ENSG00000186318 ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823;ENST00000292095 T;T;T;T;T;T 0.58210 0.35;0.95;0.35;0.35;0.35;0.35 6.03 5.12 0.69794 Peptidase aspartic (1);Peptidase aspartic, catalytic (1); 0.000000 0.85682 D 0.000000 T 0.69223 0.3087 L 0.61218 1.895 0.80722 D 1 D;D;D;D;D;D 0.76494 0.995;0.999;0.996;0.997;0.979;0.999 P;D;P;D;P;D 0.74674 0.872;0.984;0.887;0.946;0.615;0.965 T 0.72947 -0.4137 10 0.87932 D 0 . 14.5958 0.68407 0.0:0.9304:0.0:0.0696 . 255;230;355;311;286;330 F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2 .;.;BACE1_HUMAN;.;.;. H 355;255;321;230;286;330;311;121 ENSP00000318585:Q355H;ENSP00000431848:Q321H;ENSP00000422461:Q230H;ENSP00000402228:Q286H;ENSP00000424536:Q330H;ENSP00000403685:Q311H ENSP00000292095:Q121H Q - 3 2 BACE1 116666853 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 3.612000 0.54142 1.558000 0.49541 0.655000 0.94253 CAG NOVEL BACE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361505.1 3 5.71845 KEEP 0 0 0 19 655 CC 0.99986 0.88875 0 - 3 60 103 0 0 7.105645 37 60 1272 76 ENST00000313005.6 0.075 0.888875 UBE4A 9354 __UNKNOWN__ __UNKNOWN__ 11 118253407 118253407 __UNKNOWN__ Missense_Mutation SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:118253407C>T ENST00000431736.2 + 13 2206 c.2134C>T c.(2134-2136)Cgg>Tgg p.R712W UBE4A_ENST00000545354.1_Missense_Mutation_p.R177W|UBE4A_ENST00000252108.3_Missense_Mutation_p.R705W ubiquitination factor E4A NA NA autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TGTGTTCCACCGGAAACGTGT 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 204 186 192 NA NA 11 NA 118253407 2200 4296 6496 SO:0001583 missense D50916 CCDS8396.1, CCDS55790.1 11q23.3 2013-01-28 2011-05-19 9354 U-box domain containing 12499 protein-coding gene gene with protein product 603753 ubiquitination factor E4A (homologous to yeast UFD2), ubiquitination factor E4A (UFD2 homolog, yeast) NA 10089879 Standard NM_004788 NM_004788 NA Approved UBOX2, UFD2, KIAA0126, E4 uc001psv.3 Q14139 OTTHUMG00000168100 ENST00000431736.2:c.2134C>T chr11.hg19:g.118253407C>T ENSP00000387362:p.Arg712Trp NA hg19 CCDS8396.1 0.02 1.236763 CACxGGA COVERED . . . . . . . . . . C 27.7 4.850713 0.91277 . . ENSG00000110344 ENST00000252108;ENST00000431736;ENST00000545354 T;T;T 0.45276 0.9;0.9;0.9 5.68 5.68 0.88126 Ubiquitin conjugation factor E4, core (1); 0.000000 0.85682 D 0.000000 T 0.65678 0.2714 M 0.71036 2.16 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.991;0.997 T 0.61530 -0.7044 10 0.36615 T 0.2 -13.7956 19.7821 0.96420 0.0:1.0:0.0:0.0 . 705;712 Q14139;Q14139-2 UBE4A_HUMAN;. W 705;712;177 ENSP00000252108:R705W;ENSP00000387362:R712W;ENSP00000438918:R177W ENSP00000252108:R705W R + 1 2 UBE4A 117758617 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 3.789000 0.55454 2.683000 0.91414 0.591000 0.81541 CGG NOVEL UBE4A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000398143.1 5 9.930871 KEEP 0 0 0 33 1093 CC 0.999998 0.999675 0 + 5 60 151 0 0 9.23694 80 60 2611 158 ENST00000431736.2 0.058824 0.999678 HINFP 25988 __UNKNOWN__ __UNKNOWN__ 11 119006692 119006692 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:119006692A>G ENST00000350777.2 + 0 3101 NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor NA NA DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 agccgagatcatgccactgca 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL080201 CCDS8414.1, CCDS58188.1 11q23.3 2013-01-08 2009-01-22 2009-01-22 ENSG00000172273 ENSG00000172273 25988 Zinc fingers, C2H2-type 17850 protein-coding gene gene with protein product histone nuclear factor P 607099 MBD2-interacting zinc finger 1, MBD2-interacting zinc finger MIZF NA 11553631 Standard NM_015517 NM_015517 NA Approved DKFZP434F162, HiNF-P, ZNF743 uc001pvq.3 Q9BQA5 OTTHUMG00000166168 ENST00000350777.2:c.*1484A>G chr11.hg19:g.119006692A>G NA B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7 hg19 CCDS8414.1 0.02 1.733954 ATCxTGC COVERED NOVEL HINFP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388201.2 14 8.460322 KEEP 3 1 37 41 1240 AA 1 0.999678 0 + 4 60 138 0 1 8.906748 72 60 2172 183 ENST00000350777.2 0.052632 0.999678 TMEM225 338661 __UNKNOWN__ __UNKNOWN__ 11 123754078 123754078 __UNKNOWN__ Intron SNP A A G rs61908536 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:123754078A>G ENST00000375026.2 - 4 680 NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 NA NA negative regulation of phosphatase activity (GO:0010923) integral component of membrane (GO:0016021) endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 AAGAGATTCCAGGGAGTGGGA 0.468 NA NA A||| 442 0.0882588 0.1067 0.0821 5008 , , NA 17872 0.0228 NA 0.1372 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 A 481,3923 204.8+/-226.9 20,441,1741 40 40 40 -3.3 0 11 dbSNP_129 40 1046,7550 204.5+/-247.2 65,916,3317 no intron TMEM225 NM_001013743.1 85,1357,5058 GG,GA,AA 12.1685,10.9219,11.7462 123754078 1527,11473 2202 4298 6500 SO:0001627 intron_variant AY634366 CCDS31697.1 11q24.1 2014-06-13 ENSG00000204300 ENSG00000204300 338661 32390 protein-coding gene gene with protein product PMP22 claudin domain containing, protein phosphatase 1, regulatory subunit 154 NA NA Standard NM_001013743 XM_006718832 NA Approved PMP22CD, PPP1R154 uc001pzi.3 Q6GV28 OTTHUMG00000165959 ENST00000375026.2:c.464-19T>C chr11.hg19:g.123754078A>G NA hg19 CCDS31697.1 0.02 -0.33321 TCCxGGG COVERED NOVEL TMEM225-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387260.1 2 3.008246 KEEP 0 0 0 10 300 AA 0.992708 0.845771 0 - 3 60 96 0 0 6.476688 35 60 1039 63 ENST00000375026.2 0.078947 0.851984 CDON 50937 __UNKNOWN__ __UNKNOWN__ 11 125826521 125826521 __UNKNOWN__ 3'UTR SNP T T G rs530731032 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:125826521T>G ENST00000392693.3 - 0 8307 NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated NA NA anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GTGTGTCTGTTTGTGTGTGTG 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF004841 CCDS8468.1, CCDS58192.1 11q24.2 2013-02-11 2012-12-07 ENSG00000064309 ENSG00000064309 50937 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 17104 protein-coding gene gene with protein product cell adhesion molecule-related/down-regulated by oncogenes 608707 Cdon homolog (mouse) NA 9214393 Standard NM_016952 NM_016952 NA Approved ORCAM, CDO, CDON1 uc009zbw.3 Q4KMG0 OTTHUMG00000165862 ENST00000392693.3:c.*4316A>C chr11.hg19:g.125826521T>G NA O14631 hg19 CCDS58192.1 0.02 5.590039 TGTxTGT COVERED NOVEL CDON-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386749.2 19 19.965654 KEEP 0 1 36 79 2391 TT 1 1 0 - 7 60 227 1 0 13.789025 144 60 4316 333 ENST00000392693.3 0.046358 1 TMEM45B 120224 __UNKNOWN__ __UNKNOWN__ 11 129729707 129729707 __UNKNOWN__ 3'UTR SNP C C G rs56352230 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:129729707C>G ENST00000281441.3 + 0 2043 NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) gagcaagactctgtctcaaaa 0.473 NA NA C||| 828 0.165335 0.1732 0.1081 5008 , , NA 18241 0.0546 NA 0.1859 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098106 CCDS8482.1 11q24.3 2008-02-05 ENSG00000151715 120224 25194 protein-coding gene gene with protein product NA NA 12477932 Standard NM_138788 NM_138788 NA Approved BC016153, FLJ40787 uc001qfe.1 Q96B21 ENST00000281441.3:c.*1127C>G chr11.hg19:g.129729707C>G NA A8K2L8 hg19 CCDS8482.1 0.02 -0.342103 ACTxTGT COVERED NOVEL TMEM45B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386058.1 5 3.912618 KEEP 0 0 0 13 454 CC 0.994391 0.860889 0 + 4 60 141 0 0 10.505696 33 60 1106 71 ENST00000281441.3 0.108108 0.865745 JAM3 83700 __UNKNOWN__ __UNKNOWN__ 11 134020222 134020222 __UNKNOWN__ 3'UTR SNP T T G rs11223716 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr11:134020222T>G ENST00000441717.3 + 0 1939 JAM3_ENST00000299106.4_3'UTR|JAM3_ENST00000529443.2_3'UTR|NCAPD3_ENST00000526787.2_5'UTR NM_001205329.1 NP_001192258.1 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 NA NA adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226) cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) integrin binding (GO:0005178) breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) TAGGACAGTCTGTACCCAGAG 0.507 NA NA T||| 1532 0.305911 0.0477 0.4121 5008 , , NA 18635 0.4881 NA 0.2952 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF356518 CCDS8494.1, CCDS55799.1, CCDS8494.2 11q25 2013-01-29 ENSG00000166086 ENSG00000166086 83700 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 15532 protein-coding gene gene with protein product 606871 NA Standard NM_032801 NM_032801 NA Approved JAM-C, JAMC uc001qhb.3 Q9BX67 OTTHUMG00000167130 ENST00000441717.3:c.*1146T>G chr11.hg19:g.134020222T>G NA B3KWG9|Q8WWL8|Q96FL1 hg19 CCDS55799.1 0.02 4.158689 GTCxGTA COVERED NOVEL JAM3-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000393304.3 4 20.158831 KEEP 0 0 0 67 2065 TT 1 0.999997 0 + 6 60 207 0 0 13.314711 110 60 3321 254 ENST00000441717.3 0.051724 0.999997 IQSEC3 440073 __UNKNOWN__ __UNKNOWN__ 12 176120 176120 __UNKNOWN__ Missense_Mutation SNP C C G rs2650190 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:176120C>G ENST00000538872.1 + 1 190 c.72C>G c.(70-72)aaC>aaG p.N24K IQSEC3_ENST00000326261.4_Missense_Mutation_p.N24K Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 24 NA actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211) ARF guanyl-nucleotide exchange factor activity (GO:0005086) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TCGTGCAGAACCAGCAGAGCC 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 4 5 5 NA NA 12 NA 176120 1422 3317 4739 SO:0001583 missense AB029033 CCDS31725.1, CCDS53728.1 12p13.33 2014-03-18 ENSG00000120645 ENSG00000120645 440073 29193 protein-coding gene gene with protein product 612118 NA 10470851 Standard XM_495902 NM_001170738 NA Approved KIAA1110, MGC30156 uc001qhw.2 Q9UPP2 OTTHUMG00000167975 ENST00000538872.1:c.72C>G chr12.hg19:g.176120C>G ENSP00000437554:p.Asn24Lys NA A6NIF2|A6NKV9|Q8TB43 hg19 CCDS53728.1 0.02 6.014176 GAAxCAG COVERED 101 0.04624542124542125 33 0.06707317073170732 19 0.052486187845303865 18 0.03146853146853147 31 0.040897097625329816 c 16.55 3.154730 0.57259 . . ENSG00000120645 ENST00000538872;ENST00000326261 T;T 0.36699 1.24;1.24 3.68 2.77 0.32553 . 204.329000 0.01193 U 0.007372 T 0.06280 0.0162 L 0.53249 1.67 0.44275 D 0.99713 . . . . . . T 0.02437 -1.1159 8 0.72032 D 0.01 . 10.0887 0.42434 0.2025:0.7975:0.0:0.0 rs2650190 . . . K 24 ENSP00000437554:N24K;ENSP00000315662:N24K ENSP00000315662:N24K N + 3 2 IQSEC3 46381 1.000000 0.71417 1.000000 0.80357 0.785000 0.44390 4.047000 0.57383 0.732000 0.32470 0.456000 0.33151 AAC NOVEL IQSEC3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397382.3 1 20.319897 KEEP 2 2 64 90 3112 CC 1 1 0 + 6 27 206 0 0 12.462053 148 60 5123 358 ENST00000538872.1 0.038961 1 SLC6A13 6540 __UNKNOWN__ __UNKNOWN__ 12 332482 332482 __UNKNOWN__ Intron SNP C C T rs562460076 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:332482C>T ENST00000343164.4 - 12 1364 SLC6A13_ENST00000539668.1_Intron|SLC6A13_ENST00000445055.2_Intron NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 NA NA neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TAGCTTCACACGGTGGAGGCA 0.443 NA NA C||| 1 0.000199681 8e-04 0 5008 , , NA 21132 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U76343 CCDS8502.1, CCDS53729.1, CCDS58198.1 12p13.33 2013-07-19 2013-07-19 ENSG00000010379 ENSG00000010379 6540 Solute carriers 11046 protein-coding gene gene with protein product GABA transporter 2 615097 solute carrier family 6 (neurotransmitter transporter, GABA), member 13 NA Standard NM_016615 NM_001243392 NA Approved GAT2 uc001qic.2 Q9NSD5 OTTHUMG00000168053 ENST00000343164.4:c.1312-82G>A chr12.hg19:g.332482C>T NA B4DJL1|Q8TCC2|Q8WW56 hg19 CCDS8502.1 0.02 -0.359612 ACAxGGT COVERED NOVEL SLC6A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397801.1 2 7.222972 KEEP 0 0 0 24 814 CC 0.999909 0.888795 0 - 4 60 118 1 0 8.021015 37 60 1204 91 ENST00000343164.4 0.097561 0.888875 VWF 7450 __UNKNOWN__ __UNKNOWN__ 12 6127640 6127640 __UNKNOWN__ Silent SNP A A G rs61750591|rs201825372 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:6127640A>G ENST00000261405.5 - 28 5198 c.4944T>C c.(4942-4944)ccT>ccC p.P1648P NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 1648 VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}. NA P -> S (in VWD2). {ECO:0000269|PubMed:1420817}. blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611) endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093) chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GGATGAGGATAGGGGCATTGG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 GRCh37 CD066412 VWF D rs61750591 53 47 49 NA NA 12 NA 6127640 2203 4300 6503 SO:0001819 synonymous_variant CCDS8539.1 12p13.3 2014-09-17 ENSG00000110799 ENSG00000110799 7450 Endogenous ligands 12726 protein-coding gene gene with protein product 613160 F8VWF NA 2251280 Standard NM_000552 NM_000552 NA Approved uc001qnn.1 P04275 OTTHUMG00000168265 ENST00000261405.5:c.4944T>C chr12.hg19:g.6127640A>G NA Q8TCE8|Q99806 hg19 CCDS8539.1 0.02 -0.315695 GATxGGG COVERED NOVEL VWF-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399020.1 0 2.740769 KEEP 1 1 31 20 584 AA 0.999863 0.818352 0 - 3 60 99 0 0 6.84929 33 60 952 74 ENST00000261405.5 0.083333 0.818465 NCAPD2 9918 __UNKNOWN__ __UNKNOWN__ 12 6619358 6619358 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:6619358C>T ENST00000315579.5 + 4 1061 NCAPD2_ENST00000545962.1_Intron NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 NA NA mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120) histone binding (GO:0042393) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 gtttgtttgtctgtttgtttg 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 106 103 104 NA NA 12 NA 6619358 1568 3582 5150 SO:0001627 intron_variant D63880 CCDS8548.1 12p13.31 2008-02-04 ENSG00000010292 ENSG00000010292 9918 24305 protein-coding gene gene with protein product chromosome condensation related SMC associated protein 1 615638 NA 8590280, 10958694 Standard NM_014865 NM_014865 NA Approved CNAP1, hCAP-D2, CAP-D2, KIAA0159 uc001qoo.2 Q15021 OTTHUMG00000168513 ENST00000315579.5:c.262+59C>T chr12.hg19:g.6619358C>T NA D3DUR4|Q8N6U3 hg19 CCDS8548.1 0.02 2.939221 TGTxTGT COVERED NOVEL NCAPD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399964.1 16 13.077297 KEEP 0 1 33 55 1914 CC 1 0.999998 0 + 6 60 173 0 0 10.026285 106 60 3637 238 ENST00000315579.5 0.053571 0.999998 NCAPD2 9918 __UNKNOWN__ __UNKNOWN__ 12 6638006 6638006 __UNKNOWN__ Missense_Mutation SNP A A G rs199672478 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:6638006A>G ENST00000315579.5 + 26 4260 c.3461A>G c.(3460-3462)aAt>aGt p.N1154S NCAPD2_ENST00000545962.1_Missense_Mutation_p.N1109S NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1154 NA mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120) histone binding (GO:0042393) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 AACTTCTTCAATGAGCTCTCC 0.567 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense D63880 CCDS8548.1 12p13.31 2008-02-04 ENSG00000010292 ENSG00000010292 9918 24305 protein-coding gene gene with protein product chromosome condensation related SMC associated protein 1 615638 NA 8590280, 10958694 Standard NM_014865 NM_014865 NA Approved CNAP1, hCAP-D2, CAP-D2, KIAA0159 uc001qoo.2 Q15021 OTTHUMG00000168513 ENST00000315579.5:c.3461A>G chr12.hg19:g.6638006A>G ENSP00000325017:p.Asn1154Ser NA D3DUR4|Q8N6U3 hg19 CCDS8548.1 0.02 6.325758 TCAxTGA COVERED . . . . . . . . . . A 11.79 1.744785 0.30865 . . ENSG00000010292 ENST00000315579;ENST00000545962 T;T 0.13657 2.57;2.57 5.43 3.03 0.35002 Armadillo-like helical (1);Armadillo-type fold (1); 0.184974 0.56097 N 0.000023 T 0.06280 0.0162 N 0.12663 0.25 0.44643 D 0.997621 B;B 0.09022 0.002;0.0 B;B 0.16722 0.009;0.016 T 0.33214 -0.9877 10 0.13470 T 0.59 -14.3701 6.2608 0.20899 0.6124:0.2506:0.137:0.0 . 1109;1154 F5GZJ1;Q15021 .;CND1_HUMAN S 1154;1109 ENSP00000325017:N1154S;ENSP00000444417:N1109S ENSP00000325017:N1154S N + 2 0 NCAPD2 6508267 0.942000 0.31987 0.696000 0.30242 0.879000 0.50718 2.116000 0.41930 0.476000 0.27440 0.533000 0.62120 AAT NOVEL NCAPD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399964.1 4 2.613197 KEEP 0 6 207 81 2437 AA 1 1 0 + 25 60 884 0 0 70.002786 138 60 4021 343 ENST00000315579.5 0.153374 1 CHD4 1108 __UNKNOWN__ __UNKNOWN__ 12 6705138 6705138 __UNKNOWN__ Intron SNP G G A rs200155885 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:6705138G>A ENST00000544484.1 - 13 2162 CHD4_ENST00000544040.1_Intron|CHD4_ENST00000309577.6_Intron|CHD4_ENST00000357008.2_Intron Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 NA NA ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270) central_nervous_system(2) 2 aaaaaaaaaagaaacaaCTCT 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(32;586 792 4568 16848 45314) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X86691 CCDS8552.1 12p13 2013-01-28 ENSG00000111642 1108 Zinc fingers, PHD-type 1919 protein-coding gene gene with protein product 603277 NA 7575689, 8843877 Standard NM_001273 XM_006718958 NA Approved Mi-2b, Mi2-BETA uc001qpo.3 Q14839 ENST00000544484.1:c.2015+33C>T chr12.hg19:g.6705138G>A NA Q8IXZ5 hg19 0.02 4.349023 AAAxAAA COVERED NOVEL CHD4-013 KNOWN basic protein_coding NA protein_coding OTTHUMT00000402631.1 80 7.065254 KEEP 0 18 246 114 3420 GG 1 1 0 - 12 60 217 2 0 10.719521 135 70 4341 460 ENST00000544484.1 0.081633 1 GNB3 2784 __UNKNOWN__ __UNKNOWN__ 12 6955873 6955873 __UNKNOWN__ Intron SNP C C A rs373734079|rs199825311 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:6955873C>A ENST00000229264.3 + 11 1321 GNB3_ENST00000435982.2_Intron|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 acccacacacccacacataca 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8564.1, CCDS73427.1 12p13 2013-01-10 ENSG00000111664 ENSG00000111664 2784 WD repeat domain containing 4400 protein-coding gene gene with protein product 139130 NA 11770079, 16600389 Standard NM_002075 XM_005253680 NA Approved uc001qrd.3 P16520 OTTHUMG00000168517 ENST00000229264.3:c.917-83C>A chr12.hg19:g.6955873C>A NA Q96B71|Q9BQC0 hg19 CCDS8564.1 0.02 2.728061 CACxCAC COVERED NOVEL GNB3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400006.1 37 6.632859 KEEP 0 4 122 65 2213 CC 1 1 0 + 7 60 204 0 1 11.851516 126 60 4281 279 ENST00000229264.3 0.052632 1 KLRF1 51348 __UNKNOWN__ __UNKNOWN__ 12 9997275 9997275 __UNKNOWN__ 3'UTR SNP C C G rs7980232 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:9997275C>G ENST00000279544.3 + 0 913 KLRF1_ENST00000354855.3_3'UTR|KLRF1_ENST00000324214.4_3'UTR NM_016523.1 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, member 1 NA NA cell surface receptor signaling pathway (GO:0007166) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888) breast(1)|endometrium(2)|large_intestine(4)|lung(6) 13 ACTGGTCTAGCCTCAGAGTAA 0.343 NA NA C||| 539 0.107628 0.2103 0.0908 5008 , , NA -128 0.0546 NA 0.0795 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF175206 CCDS41750.1 12p13.31 2011-08-30 ENSG00000150045 ENSG00000150045 51348 Killer cell lectin-like receptors, C-type lectin domain containing 13342 protein-coding gene gene with protein product 605029 NA 10671213 Standard NM_016523 NM_001291823 NA Approved CLEC5C, NKp80 uc021qux.1 Q9NZS2 ENST00000279544.3:c.*150C>G chr12.hg19:g.9997275C>G NA Q4KMT5|Q96PR2|Q96PR3|Q9NZS1 hg19 CCDS41750.1 0.02 1.973875 TAGxCTC COVERED NOVEL KLRF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399535.1 8 12.941259 KEEP 0 0 0 43 1502 CC 1 0.996724 0 + 4 60 141 0 0 9.378483 65 60 2287 164 ENST00000279544.3 0.057971 0.996724 TMEM52B 120939 __UNKNOWN__ __UNKNOWN__ 12 10343293 10343293 __UNKNOWN__ 3'UTR SNP C C A rs73056073 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:10343293C>A ENST00000298530.3 + 0 1624 TMEM52B_ENST00000381923.2_3'UTR|TMEM52B_ENST00000536952.1_3'UTR NM_153022.2 NP_694567.1 Q4KMG9 TM52B_HUMAN transmembrane protein 52B NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NA GCAAAGAGAACACAGTATAGT 0.413 NA NA C||| 210 0.0419329 0.0083 0.0432 5008 , , NA 23070 0.001 NA 0.1262 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY358845 CCDS8619.1, CCDS66314.1 12p13.2 2012-08-15 2012-08-15 2012-08-15 ENSG00000165685 ENSG00000165685 120939 26438 protein-coding gene gene with protein product NA chromosome 12 open reading frame 59 C12orf59 NA 12975309 Standard NM_153022 XM_005253299 NA Approved FLJ31166 uc001qxq.3 Q4KMG9 OTTHUMG00000168410 ENST00000298530.3:c.*554C>A chr12.hg19:g.10343293C>A NA Q96NA7 hg19 CCDS8619.1 0.02 1.531655 GAAxACA COVERED NOVEL TMEM52B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000399648.1 2 5.718609 KEEP 0 0 0 19 666 CC 0.99986 0.998325 0 + 5 60 142 0 0 8.682722 68 60 2345 129 ENST00000298530.3 0.068493 0.998465 PRB4 5545 __UNKNOWN__ __UNKNOWN__ 12 11461549 11461549 __UNKNOWN__ Missense_Mutation SNP G G C rs11054243 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:11461549G>C ENST00000535904.1 - 3 401 c.368C>G c.(367-369)cCa>cGa p.P123R PRB4_ENST00000445719.2_Intron|PRB4_ENST00000279575.1_Missense_Mutation_p.P123R P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 144 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. NA Missing (in allele M and allele S). SR -> RP (in Ref. 7; CAA30542). {ECO:0000305}. extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TTGTGGGGGTGGTCTTTCTGG 0.607 NA NA HNSCC(22;0.051) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 144 161 155 NA NA 12 NA 11461549 2203 4300 6503 SO:0001583 missense CCDS8641.1, CCDS58208.1 12p13.2 2012-10-02 ENSG00000230657 ENSG00000230657 5545 9340 protein-coding gene gene with protein product 180990 NA Standard NM_002723 NM_002723 NA Approved uc001qzt.4 P10163 OTTHUMG00000169116 ENST00000535904.1:c.368C>G chr12.hg19:g.11461549G>C ENSP00000442834:p.Pro123Arg NA A1L439|O00600|P02813|P10161|P10162|P81489 hg19 CCDS8641.1 0.02 1.7453 GGTxGTC COVERED 143 0.06547619047619048 27 0.054878048780487805 36 0.09944751381215469 34 0.05944055944055944 46 0.06068601583113457 . 0.005 -2.169667 0.00315 . . ENSG00000230657 ENST00000279575;ENST00000535904 T;T 0.08102 3.13;3.13 0.796 -0.165 0.13355 . . . . . T 0.00241 0.0007 M 0.66439 2.03 0.09310 N 1 B 0.11235 0.004 B 0.06405 0.002 T 0.39099 -0.9630 9 0.25751 T 0.34 . 4.6253 0.12476 0.0:0.4116:0.5884:0.0 rs11054243;rs57631612;rs11054243 123 E9PAL0 . R 123 ENSP00000279575:P123R;ENSP00000442834:P123R ENSP00000279575:P123R P - 2 0 PRB4 11352816 0.651000 0.27340 0.007000 0.13788 0.004000 0.04260 -0.320000 0.08028 -0.098000 0.12285 -1.091000 0.02175 CCA NOVEL PRB4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402308.1 10 4.513905 KEEP 0 0 0 15 488 GG 0.99649 0.987486 0 - 6 60 176 0 0 12.448436 45 60 1463 106 ENST00000535904.1 0.117647 0.990964 C12orf36 283422 __UNKNOWN__ __UNKNOWN__ 12 13525453 13525453 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:13525453C>T ENST00000318426.2 - 0 1319 chromosome 12 open reading frame 36 NA NA lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) TCCACGTTTACGTGTGTTCTT 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091129 12p13.1 2012-08-14 ENSG00000180861 ENSG00000180861 283422 26598 protein-coding gene gene with protein product NA NA Standard NM_182558 NR_036555 NA Approved FLJ33810 uc001rbs.2 Q495D7 OTTHUMG00000167562 ENST00000318426.2:c.*685G>A chr12.hg19:g.13525453C>T NA hg19 0.02 -0.377152 TTAxGTG COVERED NOVEL C12orf36-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000395025.2 1 7.524313 KEEP 0 0 0 25 869 CC 0.999931 0.909006 0 - 4 60 116 0 0 7.734784 39 60 1255 89 ENST00000318426.2 0.093023 0.909069 GRIN2B 2904 __UNKNOWN__ __UNKNOWN__ 12 13764774 13764774 __UNKNOWN__ Silent SNP G G A rs1805482 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:13764774G>A ENST00000609686.1 - 8 1874 c.1665C>T c.(1663-1665)agC>agT p.S555S NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 555 NA behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) ATACGTCAGCGCTGAATGGCT 0.453 NA NA g||| 952 0.190096 0.1536 0.3718 5008 , , NA 21319 0.0089 NA 0.33 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 A 769,3637 313.6+/-293.2 76,617,1510 120 105 110 1665 -8 0.5 12 dbSNP_92 110 2874,5726 451.1+/-362.6 484,1906,1910 no coding-synonymous GRIN2B NM_000834.3 560,2523,3420 AA,AG,GG 33.4186,17.4535,28.0101 555/1485 13764774 3643,9363 2203 4300 6503 SO:0001819 synonymous_variant CCDS8662.1 12p13.1 2014-07-16 ENSG00000273079 2904 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4586 protein-coding gene gene with protein product 138252 NMDAR2B NA 1350383 Standard NM_000834 NA Approved GluN2B uc001rbt.2 Q13224 OTTHUMG00000137373 ENST00000609686.1:c.1665C>T chr12.hg19:g.13764774G>A NA Q12919|Q13220|Q13225|Q14CU4|Q9UM56 hg19 CCDS8662.1 0.02 1.306919 AGCxCTG COVERED NOVEL GRIN2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268014.2 3 8.427324 KEEP 0 0 0 28 993 GG 0.999997 0.99899 0 - 6 60 173 0 0 10.989162 72 60 2467 164 ENST00000609686.1 0.076923 0.998993 GRIN2B 2904 __UNKNOWN__ __UNKNOWN__ 12 13828659 13828659 __UNKNOWN__ Intron SNP T T C rs11055581 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:13828659T>C ENST00000609686.1 - 4 1335 NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B NA NA behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) TGCTCAAGAATTGTCAAAGAC 0.423 NA NA T||| 520 0.103834 0.034 0.1801 5008 , , NA 19339 0.0129 NA 0.2237 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 T 221,4185 132.9+/-169.3 5,211,1987 97 92 94 3.1 0.9 12 dbSNP_120 94 1794,6806 323.7+/-316.1 190,1414,2696 no intron GRIN2B NM_000834.3 195,1625,4683 CC,CT,TT 20.8605,5.0159,15.4928 13828659 2015,10991 2203 4300 6503 SO:0001627 intron_variant CCDS8662.1 12p13.1 2014-07-16 ENSG00000273079 2904 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4586 protein-coding gene gene with protein product 138252 NMDAR2B NA 1350383 Standard NM_000834 NA Approved GluN2B uc001rbt.2 Q13224 OTTHUMG00000137373 ENST00000609686.1:c.1125+19A>G chr12.hg19:g.13828659T>C NA Q12919|Q13220|Q13225|Q14CU4|Q9UM56 hg19 CCDS8662.1 0.02 1.62827 GAAxTGT COVERED NOVEL GRIN2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268014.2 3 14.738451 KEEP 0 0 0 49 1481 TT 1 0.992926 0 - 5 60 167 0 0 11.540779 57 60 1727 159 ENST00000609686.1 0.080645 0.992926 EPS8 2059 __UNKNOWN__ __UNKNOWN__ 12 15773421 15773421 __UNKNOWN__ 3'UTR SNP T T C rs8664 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:15773421T>C ENST00000281172.5 - 0 3735 EPS8_ENST00000543523.1_3'UTR NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 NA NA actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165) cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982) actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TGGCCCCACTTCCTTTTAACT 0.343 NA NA T||| 369 0.0736821 0.0045 0.2853 5008 , , NA 17252 0.001 NA 0.1173 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U12535 CCDS31753.1 12p12.3 2008-05-02 ENSG00000151491 2059 3420 protein-coding gene gene with protein product 600206 NA 8084614 Standard NM_004447 NA Approved uc001rdb.3 Q12929 ENST00000281172.5:c.*830A>G chr12.hg19:g.15773421T>C NA A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0 hg19 CCDS31753.1 0.02 1.426577 ACTxCCT COVERED NOVEL EPS8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401093.1 3 15.339528 KEEP 0 0 0 51 1517 TT 1 0.999726 0 - 4 60 133 0 0 8.208943 81 60 2429 188 ENST00000281172.5 0.047059 0.999726 EPS8 2059 __UNKNOWN__ __UNKNOWN__ 12 15813477 15813477 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:15813477T>C ENST00000540613.1 - 3 558 EPS8_ENST00000543612.1_Intron|EPS8_ENST00000281172.5_Intron|EPS8_ENST00000542903.1_Intron|EPS8_ENST00000543523.1_Intron Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 NA NA actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165) cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982) actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) ggattacaggtgtgagccact 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U12535 CCDS31753.1 12p12.3 2008-05-02 ENSG00000151491 2059 3420 protein-coding gene gene with protein product 600206 NA 8084614 Standard NM_004447 NA Approved uc001rdb.3 Q12929 ENST00000540613.1:c.157+70A>G chr12.hg19:g.15813477T>C NA A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0 hg19 0.02 3.999925 AGGxGTG COVERED NOVEL EPS8-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000401095.1 26 9.418764 KEEP 0 3 102 67 1919 TT 1 0.999968 0 - 6 70 200 0 0 13.387984 81 60 2314 236 ENST00000540613.1 0.068966 0.999968 PIK3C2G 5288 __UNKNOWN__ __UNKNOWN__ 12 18435452 18435452 __UNKNOWN__ Missense_Mutation SNP C C T rs11044004 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:18435452C>T ENST00000266497.5 + 1 475 c.437C>T c.(436-438)cCa>cTa p.P146L RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.P146L|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P146L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P146L O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 146 NA P -> L (in dbSNP:rs11044004). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17991425, ECO:0000269|Ref.3}. chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307) breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ATTTTAGCTCCATCATTCACA 0.343 NA NA .||| 1769 0.353235 0.3616 0.4078 5008 , , NA 17858 0.3046 NA 0.3917 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 GRCh37 CM080496 PIK3C2G M rs11044004 C LEU/PRO 1290,2336 230,830,753 59 60 60 437 3.9 0 12 dbSNP_120 60 3252,4892 633,1986,1453 yes missense PIK3C2G NM_004570.4 98 863,2816,2206 TT,TC,CC 39.9312,35.5764,38.5896 benign 146/1446 18435452 4542,7228 1813 4072 5885 SO:0001583 missense AJ000008 CCDS44839.1, CCDS73452.1 12p12 2012-07-13 2012-07-13 ENSG00000139144 ENSG00000139144 5288 2.7.1.154 8973 protein-coding gene gene with protein product 609001 phosphoinositide-3-kinase, class 2, gamma polypeptide NA 9878262 Standard NM_004570 XM_005253393 NA Approved uc001rdt.3 O75747 OTTHUMG00000168841 ENST00000266497.5:c.437C>T chr12.hg19:g.18435452C>T ENSP00000266497:p.Pro146Leu NA A1L3U0 hg19 CCDS44839.1 0.02 -0.403523 CTCxATC COVERED 751 0.34386446886446886 160 0.3252032520325203 130 0.35911602209944754 157 0.2744755244755245 304 0.40105540897097625 C 10.87 1.474091 0.26423 0.355764 0.399312 ENSG00000139144 ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779 T;T;T;T 0.64085 1.22;-0.08;-0.08;-0.08 4.79 3.9 0.45041 . 3.153010 0.00559 N 0.000263 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 B;B 0.10296 0.003;0.002 B;B 0.13407 0.009;0.004 T 0.12656 -1.0539 9 0.23302 T 0.38 -0.9112 9.1747 0.37105 0.0:0.9038:0.0:0.0962 rs11044004;rs12822329;rs17475132;rs52825387;rs61288137;rs11044004 146;146 F5H369;O75747 .;P3C2G_HUMAN L 146 ENSP00000443850:P146L;ENSP00000404845:P146L;ENSP00000266497:P146L;ENSP00000445381:P146L ENSP00000266497:P146L P + 2 0 PIK3C2G 18326719 0.003000 0.15002 0.028000 0.17463 0.051000 0.14879 0.398000 0.20899 1.634000 0.50500 0.655000 0.94253 CCA NOVEL PIK3C2G-002 KNOWN NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401316.1 4 3.645937 KEEP 0 1 28 22 774 CC 0.999892 0.934391 0 + 5 60 148 0 0 10.323571 41 60 1399 80 ENST00000266497.5 0.108696 0.934492 ERGIC2 51290 __UNKNOWN__ __UNKNOWN__ 12 29509237 29509237 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:29509237C>T ENST00000360150.4 - 8 648 NM_016570.2 NP_057654.2 Q96RQ1 ERGI2_HUMAN ERGIC and golgi 2 NA NA vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730) endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) attacaggcgcgagccatcgg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF216751 CCDS41765.1 12p11.22 2006-02-08 51290 30208 protein-coding gene gene with protein product 612236 NA 11445006, 12932305 Standard NM_016570 NM_016570 NA Approved PTX1, Erv41 uc001riv.3 Q96RQ1 ENST00000360150.4:c.572+77G>A chr12.hg19:g.29509237C>T NA A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3 hg19 CCDS41765.1 0.02 2.891339 GCGxGAG COVERED NOVEL ERGIC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403489.1 37 14.114233 KEEP 1 2 60 68 2352 CC 1 1 0 - 10 60 310 0 0 20.172095 129 60 4387 316 ENST00000360150.4 0.071942 1 FGD4 121512 __UNKNOWN__ __UNKNOWN__ 12 32797905 32797905 __UNKNOWN__ 3'UTR SNP A A G rs11052124 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:32797905A>G ENST00000427716.2 + 0 7163 NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) CTTTTCCTGTATTTTGACATG 0.373 NA NA G||| 2487 0.496605 0.7307 0.4899 5008 , , NA 16544 0.2133 NA 0.4523 False NA ,,, NA NA NA 2504 0.5225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057294 CCDS8727.1 12p11.1 2014-09-17 2004-08-24 ENSG00000139132 ENSG00000139132 121512 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 19125 protein-coding gene gene with protein product 611104 FGD1 family, member 4 NA 11527409 Standard NM_139241 NM_139241 NA Approved FRABP, frabin, ZFYVE6, CMT4H uc001rkz.3 Q96M96 OTTHUMG00000137374 ENST00000427716.2:c.*4438A>G chr12.hg19:g.32797905A>G NA Q6ULS2|Q8TCP6 hg19 CCDS8727.1 0.02 1.555523 TGTxTTT COVERED NOVEL FGD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268017.1 1 11.702194 KEEP 0 0 0 39 1089 AA 1 0.999919 0 + 4 60 139 0 0 8.611131 91 60 2629 184 ENST00000427716.2 0.042105 0.999919 DNM1L 10059 __UNKNOWN__ __UNKNOWN__ 12 32896944 32896944 __UNKNOWN__ 3'UTR SNP C C T rs3600 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:32896944C>T ENST00000266481.6 + 0 2761 DNM1L_ENST00000358214.5_3'UTR|DNM1L_ENST00000452533.2_3'UTR|DNM1L_ENST00000381000.4_3'UTR|YARS2_ENST00000551673.1_Intron NM_005690.3 NP_005681.2 O00429 DNM1L_HUMAN dynamin 1-like NA NA apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836) cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GGTGTGCATACTGTGTAGTTA 0.388 NA NA C||| 201 0.0401358 0.0045 0.062 5008 , , NA 21997 0 NA 0.1362 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF000430 CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1 12p11.21 2012-10-02 ENSG00000087470 ENSG00000087470 10059 2973 protein-coding gene gene with protein product 603850 NA 9348079, 9731200 Standard NM_012062 NM_012062 NA Approved DRP1, DVLP, HDYNIV, DYMPLE, VPS1 uc001rld.2 O00429 OTTHUMG00000169451 ENST00000266481.6:c.*600C>T chr12.hg19:g.32896944C>T NA A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2 hg19 CCDS8728.1 0.02 1.634065 ATAxTGT COVERED NOVEL DNM1L-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404127.1 5 6.621837 KEEP 0 0 0 22 796 CC 0.999879 0.967308 0 + 5 60 149 0 0 10.142627 47 60 1676 107 ENST00000266481.6 0.096154 0.967425 SLC2A13 114134 __UNKNOWN__ __UNKNOWN__ 12 40150923 40150923 __UNKNOWN__ 3'UTR SNP T T C rs4322461 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:40150923T>C ENST00000280871.4 - 0 4902 NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) TATGTGTTTATATGCAGATGA 0.343 NA NA HNSCC(50;0.14) T||| 3783 0.755391 0.8487 0.8127 5008 , , NA 13507 0.5694 NA 0.8459 False NA ,,, NA NA NA 2504 0.6871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ315644 CCDS8736.2 12q12 2013-05-22 ENSG00000151229 ENSG00000151229 114134 Solute carriers 15956 protein-coding gene gene with protein product H(+)-myo-inositol symporter 611036 NA 11500374 Standard NM_052885 NA Approved HMIT uc010skm.2 Q96QE2 OTTHUMG00000059743 ENST00000280871.4:c.*2905A>G chr12.hg19:g.40150923T>C NA Q17S07 hg19 CCDS8736.2 0.02 1.87992 TTAxATG COVERED NOVEL SLC2A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132849.2 3 6.45329 KEEP 0 1 33 33 1001 TT 0.999998 0.986152 0 - 4 60 140 0 0 9.652986 52 60 1542 126 ENST00000280871.4 0.071429 0.986153 SLC2A13 114134 __UNKNOWN__ __UNKNOWN__ 12 40151546 40151546 __UNKNOWN__ 3'UTR SNP A A G rs10735885 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:40151546A>G ENST00000280871.4 - 0 4279 NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) TTGTTTTCTTATATCAGGGAG 0.388 NA NA HNSCC(50;0.14) A||| 3236 0.646166 0.4508 0.7824 5008 , , NA 13909 0.5694 NA 0.8459 False NA ,,, NA NA NA 2504 0.6871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ315644 CCDS8736.2 12q12 2013-05-22 ENSG00000151229 ENSG00000151229 114134 Solute carriers 15956 protein-coding gene gene with protein product H(+)-myo-inositol symporter 611036 NA 11500374 Standard NM_052885 NA Approved HMIT uc010skm.2 Q96QE2 OTTHUMG00000059743 ENST00000280871.4:c.*2282T>C chr12.hg19:g.40151546A>G NA Q17S07 hg19 CCDS8736.2 0.02 -0.289382 CTTxTAT COVERED NOVEL SLC2A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132849.2 4 3.910589 KEEP 0 0 0 13 395 AA 0.994391 0.756619 0 - 3 60 106 0 0 7.667061 30 60 858 61 ENST00000280871.4 0.090909 0.760887 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40922091 40922091 __UNKNOWN__ Intron SNP A A G rs4768288 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:40922091A>G ENST00000454784.4 + 50 17408 MUC19_ENST00000474954.1_3'UTR Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 TGGAATAACTAGGGCTGGCCC 0.453 NA NA G||| 758 0.151358 0.3396 0.1095 5008 , , NA 18157 0.0188 NA 0.175 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10891-14273A>G chr12.hg19:g.40922091A>G NA Q8NA85 hg19 0.02 2.035427 ACTxGGG COVERED NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 3 9.026707 KEEP 0 0 0 30 924 AA 0.999997 0.992091 0 + 4 60 139 0 0 9.370598 58 60 1739 136 ENST00000454784.4 0.064516 0.992094 GXYLT1 283464 __UNKNOWN__ __UNKNOWN__ 12 42480934 42480934 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:42480934G>A ENST00000398675.3 - 0 2209 NM_001099650.1|NM_173601.1 NP_001093120.1|NP_775872.1 Q4G148 GXLT1_HUMAN glucoside xylosyltransferase 1 NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) UDP-xylosyltransferase activity (GO:0035252) kidney(2)|large_intestine(4)|liver(3)|lung(8) 17 ACACAAACACGCACACACAGA 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015597 CCDS41771.1, CCDS41772.1 12q12 2013-10-11 2009-11-17 2009-11-17 ENSG00000151233 ENSG00000151233 283464 Glycosyltransferase family 8 domain containing 27482 protein-coding gene gene with protein product 613321 glycosyltransferase 8 domain containing 3 GLT8D3 NA 19940119 Standard XM_290597 NM_001099650 NA Approved FLJ43151 uc001rms.4 Q4G148 OTTHUMG00000169379 ENST00000398675.3:c.*654C>T chr12.hg19:g.42480934G>A NA B3KWJ2|Q8IXV1|Q96BH4 hg19 CCDS41772.1 0.02 4.562147 CACxCAC COVERED NOVEL GXYLT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403778.1 41 19.027433 KEEP 0 2 62 85 2935 GG 1 1 0 - 7 60 211 1 0 12.34341 135 60 4610 361 ENST00000398675.3 0.049296 1 SLC38A4 55089 __UNKNOWN__ __UNKNOWN__ 12 47170621 47170621 __UNKNOWN__ Intron SNP C C A rs12316767 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:47170621C>A ENST00000447411.1 - 12 1381 SLC38A4_ENST00000266579.4_Intron NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 NA NA amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) AAAATCATACCTACCCAGGTC 0.383 NA NA C||| 883 0.176318 0.1846 0.1138 5008 , , NA 15685 0.1438 NA 0.1899 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF193836 CCDS8750.1 12q13 2013-05-22 ENSG00000139209 55089 Solute carriers 14679 protein-coding gene gene with protein product 608065 NA 11414754 Standard NM_018018 NA Approved PAAT, NAT3, ATA3 uc001rpj.2 Q969I6 ENST00000447411.1:c.1174+65G>T chr12.hg19:g.47170621C>A NA A8K553 hg19 CCDS8750.1 0.02 -0.297708 TACxTAC COVERED NOVEL SLC38A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404574.1 5 3.611364 KEEP 0 0 0 12 408 CC 0.993634 0.776087 0 - 3 60 93 0 0 6.330193 31 60 1030 62 ENST00000447411.1 0.088235 0.78106 DNAJC22 79962 __UNKNOWN__ __UNKNOWN__ 12 49745418 49745418 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:49745418T>C ENST00000549441.2 + 0 2363 DNAJC22_ENST00000395069.3_3'UTR|DNAJC22_ENST00000552651.1_Intron Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 NA NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 tggtggctcatgcctgtaatc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055747 CCDS8785.1 12q13.12 2011-09-02 2008-07-08 ENSG00000178401 ENSG00000178401 79962 Heat shock proteins / DNAJ (HSP40) 25802 protein-coding gene gene with protein product wurst homolog (Drosophila) NA NA 17558392 Standard NM_024902 NM_024902 NA Approved wus, FLJ13236 uc001rua.3 Q8N4W6 ENST00000549441.2:c.*133T>C chr12.hg19:g.49745418T>C NA B3KP54 hg19 CCDS8785.1 0.02 5.648446 TCAxGCC COVERED NOVEL DNAJC22-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404302.2 29 19.560383 KEEP 0 3 100 100 3043 TT 1 1 0 + 7 60 232 1 0 14.104693 151 60 4555 393 ENST00000549441.2 0.044304 1 RACGAP1 29127 __UNKNOWN__ __UNKNOWN__ 12 50386003 50386003 __UNKNOWN__ Intron SNP T T C rs368730368 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:50386003T>C ENST00000548961.1 - 1 114 RACGAP1_ENST00000547905.1_Intron|RACGAP1_ENST00000551016.1_Intron|RACGAP1_ENST00000427314.2_Intron|RACGAP1_ENST00000312377.5_Intron|RACGAP1_ENST00000434422.1_Intron|RACGAP1_ENST00000454520.2_Intron Rac GTPase activating protein 1 NA NA cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 CAAGTTCACATACACACACAC 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 140 130 134 NA NA 12 NA 50386003 2203 4300 6503 SO:0001627 intron_variant CCDS8795.1 12q13 2004-05-17 ENSG00000161800 29127 9804 protein-coding gene gene with protein product 604980 NA 9497316 Standard NM_013277 NM_013277 NA Approved MgcRacGAP uc001rvs.2 Q9H0H5 ENST00000548961.1:c.108+24A>G chr12.hg19:g.50386003T>C NA hg19 0.02 3.446739 ACAxACA COVERED NOVEL RACGAP1-017 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000406031.2 20 11.397307 KEEP 0 2 69 62 1800 TT 1 1 0 - 5 60 172 0 0 10.528703 117 60 3404 263 ENST00000548961.1 0.040984 1 SLC4A8 9498 __UNKNOWN__ __UNKNOWN__ 12 51873986 51873986 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:51873986A>G ENST00000453097.2 + 16 2389 SLC4A8_ENST00000358657.3_Intron|SLC4A8_ENST00000514353.3_Missense_Mutation_p.M742V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M742V NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 solute carrier family 4, sodium bicarbonate cotransporter, member 8 NA NA NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) gcctcccaaaatgctgggatt 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018282 CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1 12q13.13 2013-05-22 ENSG00000050438 ENSG00000050438 9498 Solute carriers 11034 protein-coding gene gene with protein product 605024 NA 11133997 Standard NM_004858 NM_001039960 NA Approved NBC3 uc001rys.2 Q2Y0W8 OTTHUMG00000169489 ENST00000453097.2:c.2172+4996A>G chr12.hg19:g.51873986A>G NA hg19 CCDS44890.1 0.02 6.173694 AAAxTGC COVERED . . . . . . . . . . A 0.105 -1.146733 0.01714 . . ENSG00000050438 ENST00000394856;ENST00000514353 T;T 0.65178 -0.14;-0.14 0.225 -0.451 0.12214 . . . . . T 0.52581 0.1743 . . . 0.09310 N 1 . . . . . . T 0.48364 -0.9042 5 0.54805 T 0.06 . . . . . 742 E7EML0 . V 742 ENSP00000378325:M742V;ENSP00000442561:M742V ENSP00000378325:M742V M + 1 0 SLC4A8 50160253 0.012000 0.17670 0.058000 0.19502 0.059000 0.15707 -0.335000 0.07873 -0.721000 0.04929 -0.718000 0.03613 ATG NOVEL SLC4A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404356.1 34 14.185735 KEEP 2 4 149 99 3097 AA 1 1 0 + 7 60 234 0 0 14.430133 145 60 4406 389 ENST00000453097.2 0.046053 1 KRT83 3889 __UNKNOWN__ __UNKNOWN__ 12 52709222 52709222 __UNKNOWN__ Intron SNP T T C rs3741720 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:52709222T>C ENST00000293670.3 - 8 1325 AC121757.1_ENST00000594763.1_Intron NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 NA NA aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633) extracellular space (GO:0005615)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) ATCTcagggctatttctgacc 0.443 NA NA t||| 886 0.176917 0.0265 0.1873 5008 , , NA 22103 0.4325 NA 0.1223 False NA ,,, NA NA NA 2504 0.1656 NA NA NA GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99141 CCDS8823.1 12q13.13 2013-06-20 2006-07-17 2006-07-17 ENSG00000170523 ENSG00000170523 3889 -, Intermediate filaments type II, keratins (basic) 6460 protein-coding gene gene with protein product hard keratin type II 602765 keratin, hair, basic, 3 KRTHB3 NA 9084137, 16831889 Standard NM_002282 NM_002282 NA Approved Hb-3 uc001saf.2 P78385 OTTHUMG00000169632 ENST00000293670.3:c.1263-95A>G chr12.hg19:g.52709222T>C NA A1A4S9|B2RC21|Q6NT21|Q9NSB3 hg19 CCDS8823.1 0.02 -0.271877 GGCxATT COVERED NOVEL KRT83-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405182.1 1 3.610073 KEEP 0 0 0 12 351 TT 0.993634 0.712749 0 - 3 60 98 0 0 6.953039 28 60 821 53 ENST00000293670.3 0.096774 0.717315 KRT73 319101 __UNKNOWN__ __UNKNOWN__ 12 53009160 53009160 __UNKNOWN__ Intron SNP C C G rs376743857 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:53009160C>G ENST00000305748.3 - 3 697 NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 NA NA extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634) structural molecule activity (GO:0005198) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) GAGTGTGTGTCTGTGTGTGTG 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 114 97 102 NA NA 12 NA 53009160 2203 4300 6503 SO:0001627 intron_variant AJ508776 CCDS8834.1 12q13.13 2013-06-25 ENSG00000186049 ENSG00000186049 319101 -, Intermediate filaments type II, keratins (basic) 28928 protein-coding gene gene with protein product 608247 NA 12648212, 16831889 Standard NM_175068 NM_175068 NA Approved KRT6IRS3, K6IRS3 uc001sas.3 Q86Y46 OTTHUMG00000169746 ENST00000305748.3:c.663-37G>C chr12.hg19:g.53009160C>G NA Q32MB2 hg19 CCDS8834.1 0.02 1.721864 TGTxTGT COVERED NOVEL KRT73-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405700.1 16 4.751115 KEEP 0 1 35 28 981 CC 0.999997 0.998865 0 - 5 60 175 1 0 12.164192 62 60 2167 159 ENST00000305748.3 0.074627 0.998867 SPRYD3 84926 __UNKNOWN__ __UNKNOWN__ 12 53471926 53471926 __UNKNOWN__ Missense_Mutation SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:53471926A>G ENST00000547837.1 - 2 96 c.53T>C c.(52-54)gTa>gCa p.V18A SPRYD3_ENST00000301463.4_Intron Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 0 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. NA central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 ttgtgccactacattccagcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK074694 CCDS8845.1 12q13.13 2006-11-29 2006-02-02 ENSG00000167778 84926 25920 protein-coding gene gene with protein product NA NA 14702039 Standard NM_032840 NM_032840 NA Approved FLJ14800 uc001sbt.2 Q8NCJ5 OTTHUMG00000170101 ENST00000547837.1:c.53T>C chr12.hg19:g.53471926A>G ENSP00000449452:p.Val18Ala NA B9EG99|Q96SK5 hg19 0.02 1.795446 ACTxCAT COVERED . . . . . . . . . . A 1.357 -0.589852 0.03799 . . ENSG00000167778 ENST00000547837 . . . 0.122 0.122 0.14702 . . . . . T 0.39627 0.1085 . . . 0.09310 N 1 . . . . . . T 0.39981 -0.9587 4 0.87932 D 0 . . . . . . . . A 18 . ENSP00000449452:V18A V - 2 0 SPRYD3 51758193 0.000000 0.05858 0.071000 0.20095 0.078000 0.17371 -0.392000 0.07314 0.166000 0.19597 0.165000 0.16767 GTA NOVEL SPRYD3-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000407266.1 16 12.632771 KEEP 0 0 0 42 1227 AA 1 0.99911 0 - 4 60 139 1 0 8.983357 73 70 2118 184 ENST00000547837.1 0.051948 0.99911 SPRYD3 84926 __UNKNOWN__ __UNKNOWN__ 12 53471929 53471929 __UNKNOWN__ Missense_Mutation SNP T T C rs7302636 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:53471929T>C ENST00000547837.1 - 2 93 c.50A>G c.(49-51)aAt>aGt p.N17S SPRYD3_ENST00000301463.4_Intron Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 0 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. NA central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 tgccactacattccagcctgg 0.507 NA NA C||| 1477 0.294928 0.6089 0.1542 5008 , , NA 18517 0.1756 NA 0.1759 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK074694 CCDS8845.1 12q13.13 2006-11-29 2006-02-02 ENSG00000167778 84926 25920 protein-coding gene gene with protein product NA NA 14702039 Standard NM_032840 NM_032840 NA Approved FLJ14800 uc001sbt.2 Q8NCJ5 OTTHUMG00000170101 ENST00000547837.1:c.50A>G chr12.hg19:g.53471929T>C ENSP00000449452:p.Asn17Ser NA B9EG99|Q96SK5 hg19 0.02 1.76913 ACAxTCC COVERED 565 0.2586996336996337 286 0.5813008130081301 61 0.1685082872928177 85 0.1486013986013986 133 0.17546174142480211 C 0.807 -0.753353 0.03041 . . ENSG00000167778 ENST00000547837 . . . 0.122 0.122 0.14702 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.45498 -0.9257 3 0.87932 D 0 . . . . rs7302636;rs10311341;rs58750561 . . . S 17 . ENSP00000449452:N17S N - 2 0 SPRYD3 51758196 0.001000 0.12720 0.058000 0.19502 0.066000 0.16364 -1.288000 0.02783 -1.035000 0.03291 -1.026000 0.02426 AAT NOVEL SPRYD3-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000407266.1 16 12.938329 KEEP 0 0 0 43 1325 TT 1 0.999407 0 - 6 60 189 1 0 12.517861 74 70 2203 187 ENST00000547837.1 0.075 0.999407 ITGA5 3678 __UNKNOWN__ __UNKNOWN__ 12 54796757 54796757 __UNKNOWN__ Intron SNP C C T rs7306692 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:54796757C>T ENST00000293379.4 - 19 2244 RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313) alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202) metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TTACCGTCAGCCCTACTTACC 0.557 NA NA C||| 483 0.0964457 0.0166 0.1686 5008 , , NA 17795 0 NA 0.2913 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 C 234,4172 138.4+/-174.2 4,226,1973 97 82 87 4 0.5 12 dbSNP_116 87 2391,6209 397.6+/-345.8 311,1769,2220 no intron ITGA5 NM_002205.2 315,1995,4193 TT,TC,CC 27.8023,5.3109,20.183 54796757 2625,10381 2203 4300 6503 SO:0001627 intron_variant CCDS8880.1 12q11-q13 2010-03-23 ENSG00000161638 3678 CD molecules, Integrins 6141 protein-coding gene gene with protein product 135620 FNRA NA 2454952 Standard NM_002205 NA Approved CD49e uc001sga.3 P08648 OTTHUMG00000169841 ENST00000293379.4:c.1982+9G>A chr12.hg19:g.54796757C>T NA Q96HA5 hg19 CCDS8880.1 0.02 1.622294 CAGxCCT COVERED NOVEL ITGA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406174.1 1 16.553893 KEEP 0 0 0 55 1944 CC 1 0.998696 0 - 5 60 149 0 0 9.318731 70 60 2479 186 ENST00000293379.4 0.066667 0.998696 RDH5 5959 __UNKNOWN__ __UNKNOWN__ 12 56115785 56115785 __UNKNOWN__ Intron SNP C C T rs3138140 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:56115785C>T ENST00000257895.5 + 3 721 RDH5_ENST00000548082.1_Intron|RDH5_ENST00000553160.1_Intron|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Intron NM_001199771.1|NM_002905.3 NP_001186700.1|NP_002896.2 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis/9-cis) NA NA phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) retinol dehydrogenase activity (GO:0004745) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1) 12 Vitamin A(DB00162) ACTCAACAAACGTGGGCCAGC 0.498 NA NA C||| 1095 0.21865 0.3896 0.2133 5008 , , NA 18460 0.1786 NA 0.0944 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U89717 CCDS31829.1 12q13-q14 2013-06-03 2006-05-09 ENSG00000135437 5959 1.1.1.105 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 9940 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 9C, member 5 601617 retinol dehydrogenase 5 (11-cis and 9-cis) RDH1 NA 9115228, 8884265, 19027726 Standard NM_002905 NM_002905 NA Approved HSD17B9, SDR9C5 uc001shl.3 Q92781 OTTHUMG00000170126 ENST00000257895.5:c.569+54C>T chr12.hg19:g.56115785C>T NA O00179|Q8TAI2 hg19 CCDS31829.1 0.02 4.479838 AAAxGTG COVERED NOVEL RDH5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407493.1 6 28.289892 KEEP 0 0 0 94 3209 CC 1 1 0 + 7 60 206 0 0 11.499444 152 60 5097 373 ENST00000257895.5 0.044025 1 RDH5 5959 __UNKNOWN__ __UNKNOWN__ 12 56115946 56115946 __UNKNOWN__ Intron SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:56115946G>T ENST00000257895.5 + 3 721 RDH5_ENST00000548082.1_Intron|RDH5_ENST00000553160.1_Intron|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Intron NM_001199771.1|NM_002905.3 NP_001186700.1|NP_002896.2 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis/9-cis) NA NA phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) retinol dehydrogenase activity (GO:0004745) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1) 12 Vitamin A(DB00162) tttgttttttgttttttgaga 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U89717 CCDS31829.1 12q13-q14 2013-06-03 2006-05-09 ENSG00000135437 5959 1.1.1.105 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 9940 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 9C, member 5 601617 retinol dehydrogenase 5 (11-cis and 9-cis) RDH1 NA 9115228, 8884265, 19027726 Standard NM_002905 NM_002905 NA Approved HSD17B9, SDR9C5 uc001shl.3 Q92781 OTTHUMG00000170126 ENST00000257895.5:c.569+215G>T chr12.hg19:g.56115946G>T NA O00179|Q8TAI2 hg19 CCDS31829.1 0.02 1.671987 TTTxTTT COVERED NOVEL RDH5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407493.1 11 2.878547 KEEP 2 2 61 31 1090 GG 0.999997 0.986151 0 + 6 70 185 2 1 13.038401 51 60 1767 125 ENST00000257895.5 0.105263 0.986153 CDK4 1019 __UNKNOWN__ __UNKNOWN__ 12 58143445 58143445 __UNKNOWN__ Intron SNP T T C rs3211620 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:58143445T>C ENST00000257904.6 - 6 998 CDK4_ENST00000549606.1_Intron|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Intron NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 NA NA cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165) chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667) ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) agcccaggagttctagatcag 0.468 NA NA Mis melanoma Hereditary Melanoma T||| 18 0.00359425 8e-04 0.0058 5008 , , NA 18428 0 NA 0.0129 False NA ,,, NA NA NA 2504 0 NA NA NA yes Dom Familial malignant melanoma 12 12q14 1019 cyclin-dependent kinase 4 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome M14505 CCDS8953.1 12q13 2014-09-17 ENSG00000135446 1019 Cyclin-dependent kinases 1773 protein-coding gene gene with protein product 123829 NA 8275715 Standard NM_000075 NM_000075 NA Approved PSK-J3 uc001spv.3 P11802 ENST00000257904.6:c.633-158A>G chr12.hg19:g.58143445T>C NA B2R9A0|B4DNF9|O00576|Q6FG61 hg19 CCDS8953.1 0.02 3.940398 GAGxTCT COVERED NOVEL CDK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408790.2 26 21.962593 KEEP 0 0 0 73 2219 TT 1 1 0 - 5 60 179 0 0 10.973493 132 60 3956 278 ENST00000257904.6 0.036496 1 MSRB3 253827 __UNKNOWN__ __UNKNOWN__ 12 65858189 65858189 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:65858189A>G ENST00000308259.5 + 0 1919 MSRB3_ENST00000355192.3_3'UTR NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 NA NA protein repair (GO:0030091)|response to oxidative stress (GO:0006979) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) ctgagctcataccactgcact 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX640871 CCDS8973.1, CCDS31853.1 12q14.3 2011-11-29 ENSG00000174099 ENSG00000174099 253827 27375 protein-coding gene gene with protein product 613719 deafness, autosomal recessive 74 DFNB74 NA 21185009 Standard NM_198080 NM_198080 NA Approved FLJ36866, DKFZp686C1178 uc021qzy.1 Q8IXL7 OTTHUMG00000168866 ENST00000308259.5:c.*1087A>G chr12.hg19:g.65858189A>G NA B4DR19|B7ZAQ0|Q6UXS2 hg19 CCDS31853.1 0.02 -0.341983 CATxCCA COVERED NOVEL MSRB3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401422.1 9 6.617153 KEEP 2 0 0 22 643 AA 0.999879 0.86564 0 + 3 60 94 0 0 6.352111 33 60 940 80 ENST00000308259.5 0.083333 0.865745 HMGA2 8091 __UNKNOWN__ __UNKNOWN__ 12 66308727 66308727 __UNKNOWN__ Intron SNP A A T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:66308727A>T ENST00000541363.1 + 4 622 HMGA2_ENST00000354636.3_Intron|HMGA2_ENST00000536545.1_3'UTR|AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000393577.3_Intron|HMGA2_ENST00000403681.2_Intron P52926 HMGA2_HUMAN high mobility group AT-hook 2 NA NA adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863) nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141) 5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134) HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) agtgctgggaatacaggcgtg 0.493 NA NA T LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT lipoma, leiomyoma, pleiomorphic salivary gland adenoma NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 12 12q15 8091 high mobility group AT-hook 2 (HMGIC) M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U28754 CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1 12q15 2011-07-01 2002-07-25 2002-07-26 ENSG00000149948 ENSG00000149948 8091 High-mobility group / Canonical 5009 protein-coding gene gene with protein product 600698 high-mobility group (nonhistone chromosomal) protein isoform I-C HMGIC NA 8824803, 9003504 Standard NM_003483 XM_006719620 NA Approved BABL, LIPO uc001ssx.3 P52926 OTTHUMG00000168936 ENST00000541363.1:c.250-36436A>T chr12.hg19:g.66308727A>T NA E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188 hg19 0.02 2.859491 GGAxTAC COVERED NOVEL HMGA2-011 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000401662.1 29 5.550392 KEEP 0 4 118 60 1865 AA 1 1 0 + 9 60 267 1 0 17.370649 104 60 3245 270 ENST00000541363.1 0.079646 1 PTPRB 5787 __UNKNOWN__ __UNKNOWN__ 12 70934621 70934621 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:70934621A>G ENST00000550358.1 - 22 5356 PTPRB_ENST00000261266.5_Intron|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000334414.6_Intron|PTPRB_ENST00000538708.1_Intron P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B NA NA angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470) integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AATCACCAAAAGGATCTTTGT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 51 45 47 NA NA 12 NA 70934621 1883 4114 5997 SO:0001627 intron_variant X54131 CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1 12q15-q21 2013-02-11 5787 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9665 protein-coding gene gene with protein product 176882 PTPB NA 2169617 Standard NM_001109754 NA Approved uc001swc.4 P23467 OTTHUMG00000169499 ENST00000550358.1:c.5330+16T>C chr12.hg19:g.70934621A>G NA B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7 hg19 0.02 1.742619 AAAxGGA COVERED NOVEL PTPRB-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404436.1 5 9.930365 KEEP 0 0 0 33 1063 AA 0.999998 0.99962 0 - 4 60 140 0 0 8.949402 79 60 2574 167 ENST00000550358.1 0.048193 0.999622 TBC1D15 64786 __UNKNOWN__ __UNKNOWN__ 12 72318524 72318524 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:72318524G>A ENST00000550746.1 + 0 3680 NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 NA NA positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) Rab GTPase activator activity (GO:0005097) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ggccgggcgcggtggctcacg 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL157464 CCDS31858.1, CCDS53814.1, CCDS55849.1 12q15 2013-07-09 ENSG00000121749 ENSG00000121749 64786 25694 protein-coding gene gene with protein product 612662 NA 16055087 Standard NM_022771 NM_022771 NA Approved FLJ12085, DKFZp761D0223 uc001swu.3 Q8TC07 OTTHUMG00000158553 ENST00000550746.1:c.*1540G>A chr12.hg19:g.72318524G>A NA B4DMT9|B9A6L6|J3KNI9|Q9HA83 hg19 CCDS31858.1 0.02 1.014943 CGCxGTG COVERED NOVEL TBC1D15-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000351266.2 19 16.888421 KEEP 7 1 31 67 2288 GG 1 0.999962 0 + 5 60 146 0 0 8.425196 93 60 3177 269 ENST00000550746.1 0.05102 0.999962 TBC1D15 64786 __UNKNOWN__ __UNKNOWN__ 12 72319077 72319077 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:72319077C>T ENST00000550746.1 + 0 4233 NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 NA NA positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) Rab GTPase activator activity (GO:0005097) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTGACAATCACGACAGTAGAA 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL157464 CCDS31858.1, CCDS53814.1, CCDS55849.1 12q15 2013-07-09 ENSG00000121749 ENSG00000121749 64786 25694 protein-coding gene gene with protein product 612662 NA 16055087 Standard NM_022771 NM_022771 NA Approved FLJ12085, DKFZp761D0223 uc001swu.3 Q8TC07 OTTHUMG00000158553 ENST00000550746.1:c.*2093C>T chr12.hg19:g.72319077C>T NA B4DMT9|B9A6L6|J3KNI9|Q9HA83 hg19 CCDS31858.1 0.02 1.295832 TCAxGAC COVERED NOVEL TBC1D15-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000351266.2 0 10.232073 KEEP 0 0 0 34 1139 CC 0.999998 0.995685 0 + 5 60 150 0 0 9.636339 63 60 2042 142 ENST00000550746.1 0.073529 0.995687 NAP1L1 4673 __UNKNOWN__ __UNKNOWN__ 12 76450612 76450612 __UNKNOWN__ Intron SNP C C T rs545159438 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:76450612C>T ENST00000261182.8 - 7 916 NAP1L1_ENST00000544816.1_Intron|NAP1L1_ENST00000547993.1_5'UTR|NAP1L1_ENST00000542344.1_Intron|NAP1L1_ENST00000535020.2_Intron|NAP1L1_ENST00000393263.3_Intron|NAP1L1_ENST00000548044.1_Intron|NAP1L1_ENST00000549596.1_Intron|NAP1L1_ENST00000552342.1_Intron|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000547773.1_Intron NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 NA NA DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284) membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) gccaacatggcgaaaccccat 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9013.1 12q21.1 2010-03-17 ENSG00000187109 ENSG00000187109 4673 7637 protein-coding gene gene with protein product 164060 NA 8297347 Standard NM_139207 NM_004537 NA Approved NRP, NAP1, NAP1L, MGC8688, MGC23410 uc001sxx.2 P55209 ENST00000261182.8:c.430-671G>A chr12.hg19:g.76450612C>T NA B3KNT8 hg19 CCDS9013.1 0.02 1.392317 TGGxGAA COVERED NOVEL NAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405850.3 6 3.54617 KEEP 1 1 32 23 791 CC 0.999909 0.984072 0 - 6 60 165 0 0 11.192706 48 60 1601 109 ENST00000261182.8 0.111111 0.984161 NAV3 89795 __UNKNOWN__ __UNKNOWN__ 12 78571490 78571490 __UNKNOWN__ Intron SNP T T C rs958836 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:78571490T>C ENST00000536525.2 + 27 5470 NAV3_ENST00000228327.6_Intron|NAV3_ENST00000397909.2_Intron|NAV3_ENST00000266692.7_Intron NM_014903.4 NP_055718.4 Q8IVL0 NAV3_HUMAN neuron navigator 3 NA NA membrane (GO:0016020)|nuclear envelope (GO:0005635) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GATGCATGAATACTGCAAAGA 0.403 NA NA HNSCC(70;0.22) t||| 1200 0.239617 0.2837 0.2104 5008 , , NA 17596 0.2063 NA 0.2525 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 T 432,1320 60,312,504 49 43 45 2.2 0 12 dbSNP_86 45 958,3024 119,720,1152 no intron NAV3 NM_014903.4 179,1032,1656 CC,CT,TT 24.0583,24.6575,24.2414 78571490 1390,4344 876 1991 2867 SO:0001627 intron_variant AB023155 CCDS41815.1, CCDS66432.1 12q14.3 2008-08-05 ENSG00000067798 89795 15998 protein-coding gene gene with protein product pore membrane and/or filament interacting like protein 1, steerin 3 611629 NA 12079279, 12062803 Standard NM_001024383 XM_005269215 NA Approved KIAA0938, POMFIL1 uc001syo.3 Q8IVL0 OTTHUMG00000170001 ENST00000536525.2:c.5297+397T>C chr12.hg19:g.78571490T>C NA Q8NFW7|Q9Y2E7 hg19 CCDS41815.1 0.02 1.555392 GAAxACT COVERED NOVEL NAV3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000406811.1 1 9.860361 KEEP 0 1 35 45 1338 TT 1 0.999919 0 + 4 60 139 0 0 8.610387 91 60 2706 206 ENST00000536525.2 0.042105 0.999919 CCDC41 0 __UNKNOWN__ __UNKNOWN__ 12 94762349 94762349 __UNKNOWN__ Intron SNP T T C rs12231228 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:94762349T>C ENST00000397809.5 - 10 1598 CCDC41_ENST00000547575.1_3'UTR|CCDC41_ENST00000397807.2_Intron|CCDC41_ENST00000339839.5_Intron NM_016122.2 NP_057206.2 Q9Y592 CEP83_HUMAN NA NA cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278) centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794) breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 AGCTGGCTGATAGCAGAGTGA 0.373 NA NA T||| 238 0.047524 0.0666 0.0274 5008 , , NA 17804 0.0813 NA 0.0268 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000397809.5:c.1049-372A>G chr12.hg19:g.94762349T>C NA A4FVB1|Q08AP1 hg19 CCDS41820.1 0.02 -0.368338 TGAxAGC COVERED NOVEL CCDC41-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408147.3 2 7.817366 KEEP 0 0 0 26 738 TT 0.999957 0.899275 0 - 3 60 104 0 0 7.13994 39 60 1149 91 ENST00000397809.5 0.071429 0.899314 ANKS1B 56899 __UNKNOWN__ __UNKNOWN__ 12 99446977 99446977 __UNKNOWN__ Silent SNP C C T rs80197475 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:99446977C>T ENST00000547776.2 - 17 2735 c.2736G>A c.(2734-2736)tcG>tcA p.S912S ANKS1B_ENST00000546960.1_Silent_p.S138S|ANKS1B_ENST00000549558.2_Silent_p.S138S|ANKS1B_ENST00000547010.1_Silent_p.S488S|ANKS1B_ENST00000329257.7_Silent_p.S912S|ANKS1B_ENST00000332712.7_Silent_p.S138S|ANKS1B_ENST00000549493.2_Silent_p.S138S|ANKS1B_ENST00000549025.2_Silent_p.S81S|ANKS1B_ENST00000550693.2_Silent_p.S138S|ANKS1B_ENST00000546568.1_Silent_p.S138S|ANKS1B_ENST00000547446.1_Silent_p.S107S NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 912 SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}. NA cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) ephrin receptor binding (GO:0046875) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ACAGGTCCATCGAAGTGTAGC 0.408 NA NA C||| 103 0.0205671 0.0023 0.0187 5008 , , NA 15875 0.001 NA 0.0457 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 C ,,,,,,, 30,3680 1,28,1826 46 43 44 243,321,414,414,414,414,2736,414 0.8 1 12 dbSNP_132 44 329,7889 10,309,3790 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ANKS1B NM_001204066.1,NM_001204067.1,NM_001204068.1,NM_001204069.1,NM_001204070.1,NM_020140.3,NM_152788.4,NM_181670.3 ,,,,,,, 11,337,5616 TT,TC,CC 4.0034,0.8086,3.0097 ,,,,,,, 81/358,107/395,138/461,138/451,138/427,138/415,912/1249,138/511 99446977 359,11569 1855 4109 5964 SO:0001819 synonymous_variant AF145204 CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1 12q23.1 2013-01-10 56899 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 24600 protein-coding gene gene with protein product 607815 NA 10490826, 12415113 Standard NM_020140 NM_020140 NA Approved EB-1, AIDA-1, cajalin-2, ANKS2 uc001tge.2 Q7Z6G8 ENST00000547776.2:c.2736G>A chr12.hg19:g.99446977C>T NA A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9 hg19 CCDS55872.1 0.02 1.642902 CATxGAA COVERED 40 0.018315018315018316 2 0.0040650406504065045 5 0.013812154696132596 2 0.0034965034965034965 31 0.040897097625329816 C 9.021 0.984868 0.18889 0.008086 0.040034 ENSG00000185046 ENST00000550778 . . . 6.07 0.762 0.18454 . . . . . T 0.23611 0.0571 . . . 0.80722 D 1 . . . . . . T 0.17992 -1.0351 4 . . . -5.1211 8.7122 0.34391 0.0:0.5264:0.3458:0.1278 . . . . Q 184 . . R - 2 0 ANKS1B 97971108 0.995000 0.38212 0.996000 0.52242 0.996000 0.88848 0.330000 0.19715 0.120000 0.18254 0.650000 0.86243 CGA NOVEL ANKS1B-003 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000408421.3 6 15.949891 KEEP 0 0 0 53 1745 CC 1 0.963774 0 - 6 60 169 0 0 11.859293 43 60 1412 146 ENST00000547776.2 0.122449 0.963774 ALDH1L2 160428 __UNKNOWN__ __UNKNOWN__ 12 105446552 105446552 __UNKNOWN__ Intron SNP T T C rs56188643 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:105446552T>C ENST00000258494.9 - 11 1548 ALDH1L2_ENST00000424857.2_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 NA NA 10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 TAAAAATCCATGACCAGTGAT 0.398 NA NA OREG0022073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1806 0.360623 0.1362 0.3559 5008 , , NA 20675 0.3899 NA 0.501 False NA ,,, NA NA NA 2504 0.4928 NA NA NA NA 0 C 850,3556 744.4+/-411.6 76,698,1429 115 88 97 -8.4 0 12 dbSNP_129 97 4173,4427 586.2+/-392.0 983,2207,1110 no intron ALDH1L2 NM_001034173.3 1059,2905,2539 CC,CT,TT 48.5233,19.2919,38.6206 105446552 5023,7983 2203 4300 6503 SO:0001627 intron_variant AK095827 CCDS31891.1 12q23.3 2014-09-11 ENSG00000136010 ENSG00000136010 160428 1.5.1.6 Aldehyde dehydrogenases 26777 protein-coding gene gene with protein product mitochondrial 10-formyltetrahydrofolate dehydrogenase 613584 NA 20498374 Standard XM_090294 NM_001034173 NA Approved FLJ38508, mtFDH uc001tlc.3 Q3SY69 OTTHUMG00000169823 ENST00000258494.9:c.1407+37A>G chr12.hg19:g.105446552T>C 1389 Q3SY68|Q68D62|Q6AI55|Q8N922 hg19 CCDS31891.1 0.02 -0.429683 CCAxGAC COVERED NOVEL ALDH1L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406098.1 0 7.820195 KEEP 0 0 0 26 749 TT 0.999957 0.95445 0 - 4 60 129 0 0 8.797678 45 60 1302 95 ENST00000258494.9 0.081633 0.954491 NUAK1 9891 __UNKNOWN__ __UNKNOWN__ 12 106459510 106459510 __UNKNOWN__ 3'UTR SNP G G A rs1064959 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:106459510G>A ENST00000261402.2 - 0 4435 NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 NA NA cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 ACAGTATCACGTCCAACTCAA 0.468 NA NA G||| 618 0.123403 0.0605 0.2392 5008 , , NA 22908 0.0407 NA 0.1829 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011109 CCDS31892.1 12q23.3 2005-08-09 ENSG00000074590 9891 14311 protein-coding gene gene with protein product AMP-activated protein kinase family member 5 608130 NA 12409306, 13679856 Standard NM_014840 NM_014840 NA Approved ARK5, KIAA0537, NuaK1 uc001tlj.1 O60285 OTTHUMG00000169763 ENST00000261402.2:c.*1070C>T chr12.hg19:g.106459510G>A NA A7MD39|Q96KA8 hg19 CCDS31892.1 0.02 -0.298238 CACxTCC COVERED NOVEL NUAK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405767.2 2 6.319788 KEEP 0 0 0 21 700 GG 0.999869 0.780958 0 - 4 60 112 0 0 7.765342 30 60 1010 75 ENST00000261402.2 0.117647 0.78106 TRPV4 59341 __UNKNOWN__ __UNKNOWN__ 12 110230139 110230139 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:110230139C>G ENST00000418703.2 - 11 1986 TRPV4_ENST00000536838.1_Intron|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Intron|TRPV4_ENST00000537083.1_Intron NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 NA NA actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103) adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 ACCACCCCTGCCAGGACCACC 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 43 44 44 NA NA 12 NA 110230139 2203 4300 6503 SO:0001627 intron_variant AF263523 CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1 12q24.1 2014-09-17 ENSG00000111199 59341 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 18083 protein-coding gene gene with protein product osmosensitive transient receptor potential channel 4 605427 NA 11025659, 11081638, 16382100, 20037587 Standard NM_021625 NM_147204 NA Approved OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C uc001tpk.2 Q9HBA0 ENST00000418703.2:c.1891+28G>C chr12.hg19:g.110230139C>G NA B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0 hg19 CCDS9134.1 0.02 1.672387 CTGxCAG COVERED NOVEL TRPV4-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403270.1 19 12.620982 KEEP 0 0 0 42 1464 CC 1 0.999894 0 - 4 60 144 0 0 9.185345 87 60 3007 186 ENST00000418703.2 0.043956 0.999895 IFT81 28981 __UNKNOWN__ __UNKNOWN__ 12 110566736 110566736 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:110566736A>G ENST00000242591.5 + 4 754 IFT81_ENST00000361948.4_Intron|IFT81_ENST00000552912.1_Intron NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 NA NA cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283) centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228) tubulin binding (GO:0015631) endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 GTGTTTGTGTATGTGTGTTTC 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 84 80 81 NA NA 12 NA 110566736 2203 4300 6503 SO:0001627 intron_variant AF139540 CCDS9142.1, CCDS41831.1 12q24.13 2014-07-03 2014-07-03 2005-11-02 ENSG00000122970 28981 Intraflagellar transport homologs 14313 protein-coding gene gene with protein product 605489 carnitine deficiency-associated, expressed in ventricle 1, intraflagellar transport 81 homolog (Chlamydomonas) CDV1 NA 11130971 Standard NM_014055 NM_014055 NA Approved CDV-1R, MGC4027 uc001tqi.3 Q8WYA0 OTTHUMG00000169326 ENST00000242591.5:c.249-19A>G chr12.hg19:g.110566736A>G NA Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8 hg19 CCDS41831.1 0.02 3.695363 TGTxTGT COVERED NOVEL IFT81-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403529.1 26 9.596479 KEEP 0 2 69 56 1671 AA 1 0.999995 0 + 5 60 174 0 1 11.060677 100 60 2947 240 ENST00000242591.5 0.047619 0.999995 ATP2A2 488 __UNKNOWN__ __UNKNOWN__ 12 110729732 110729732 __UNKNOWN__ Intron SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:110729732C>A ENST00000308664.6 + 4 893 ATP2A2_ENST00000395494.2_Intron|ATP2A2_ENST00000552636.1_Intron|ATP2A2_ENST00000539276.2_Intron NM_001681.3|NM_170665.3 NP_001672.1|NP_733765.1 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 NA NA blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 gattacaggcctgagccacca 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9143.1, CCDS9144.1 12q24.11 2012-10-22 ENSG00000174437 ENSG00000174437 488 3.6.3.8 ATPases / P-type 812 protein-coding gene gene with protein product sarcoplasmic/endoplasmic reticulum calcium ATPase 2, calcium pump 2 108740 ATP2B, DAR NA 10080178 Standard NM_001681 NM_170665 NA Approved SERCA2 uc001tqk.4 P16615 OTTHUMG00000169327 ENST00000308664.6:c.220-93C>A chr12.hg19:g.110729732C>A NA A6NDN7|B4DF05|P16614|Q86VJ2 hg19 CCDS9143.1 0.02 1.598981 GGCxTGA COVERED NOVEL ATP2A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403537.1 9 9.262916 KEEP 0 1 29 41 1370 CC 1 0.986153 0 + 4 60 129 0 0 8.758405 46 60 1580 133 ENST00000308664.6 0.08 0.986153 MED13L 23389 __UNKNOWN__ __UNKNOWN__ 12 116408538 116408538 __UNKNOWN__ Silent SNP A A G rs2304460 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:116408538A>G ENST00000281928.3 - 27 6134 c.5928T>C c.(5926-5928)acT>acC p.T1976T NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1976 NA mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) p.T1976T(1) NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TGTTCAGTGCAGTACTTCGGC 0.428 NA NA A||| 765 0.152756 0.0696 0.1311 5008 , , NA 20349 0.1696 NA 0.1899 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A 412,3994 203.1+/-225.7 13,386,1804 142 116 125 5928 3.2 1 12 dbSNP_100 125 1552,7048 292.0+/-300.6 122,1308,2870 no coding-synonymous MED13L NM_015335.4 135,1694,4674 GG,GA,AA 18.0465,9.3509,15.1007 1976/2211 116408538 1964,11042 2203 4300 6503 SO:0001819 synonymous_variant AB028948 CCDS9177.1 12q24.22 2010-07-29 2007-07-30 2007-07-30 ENSG00000123066 ENSG00000123066 23389 22962 protein-coding gene gene with protein product 608771 thyroid hormone receptor associated protein 2 THRAP2 NA Standard NM_015335 NA Approved KIAA1025, TRAP240L uc001tvw.3 Q71F56 OTTHUMG00000169404 ENST00000281928.3:c.5928T>C chr12.hg19:g.116408538A>G NA A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5 hg19 CCDS9177.1 0.02 -0.429783 TGCxGTA COVERED 332 0.152014652014652 61 0.12398373983739837 50 0.13812154696132597 91 0.1590909090909091 130 0.17150395778364116 A 9.767 1.171638 0.21704 0.093509 0.180465 ENSG00000123066 ENST00000552447 . . . 5.55 3.21 0.36854 . . . . . T 0.00073 0.0002 . . . 0.09310 P 1.0 . . . . . . T 0.16247 -1.0409 3 . . . -16.2838 1.7372 0.02944 0.5402:0.1283:0.208:0.1235 rs2304460;rs17426149;rs58700742;rs2304460 . . . R 181 . . C - 1 0 MED13L 114892921 0.994000 0.37717 1.000000 0.80357 0.998000 0.95712 0.413000 0.21148 0.534000 0.28695 0.533000 0.62120 TGC NOVEL MED13L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403879.3 1 4.813733 KEEP 0 0 0 16 494 AA 0.997832 0.952421 0 - 3 60 102 0 0 6.733498 46 60 1407 101 ENST00000281928.3 0.061224 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 117636015 117636015 __UNKNOWN__ IGR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:117636015A>G NA NA FBXO21 (7679 upstream) : NOS1 (9931 downstream) NA NA NA gcctcccaaaatgctgggatt 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr12.hg19:g.117636015A>G NA hg19 0.02 -0.175433 AAAxTGC COVERED NOVEL 0 7 4.513877 KEEP 0 0 0 15 478 AA 0.99649 0.386047 0 3 60 101 0 0 7.860887 17 60 532 48 0.15 0.387407 C12orf43 64897 __UNKNOWN__ __UNKNOWN__ 12 121440696 121440696 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:121440696A>G ENST00000445832.3 - 0 2061 Q96C57 CL043_HUMAN chromosome 12 open reading frame 43 NA NA cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) tatagagacgaggtttcacca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022510 CCDS66486.1, CCDS66487.1 12q24.31 2012-05-30 ENSG00000157895 ENSG00000157895 64897 25719 protein-coding gene gene with protein product NA NA 8619474, 9110174 Standard NM_022895 NM_001286195 NA Approved FLJ12448 uc001tzh.1 Q96C57 OTTHUMG00000169150 ENST00000445832.3:c.*1260T>C chr12.hg19:g.121440696A>G NA Q53HF0|Q9H9Z7 hg19 0.02 4.064318 ACGxGGT COVERED NOVEL C12orf43-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000402517.2 32 13.868609 KEEP 0 1 34 58 1697 AA 1 0.999981 0 - 5 60 166 0 0 10.37224 95 60 2908 217 ENST00000445832.3 0.05 0.999981 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123892646 123892646 __UNKNOWN__ 3'UTR SNP C C A rs80048501 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:123892646C>A ENST00000402868.3 + 0 1881 SETD8_ENST00000330479.4_3'UTR Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 NA NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) GCACCCCCGACATCCAGGGAC 0.562 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.*396C>A chr12.hg19:g.123892646C>A NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 3.195019 CGAxATC COVERED NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 5 10.404785 KEEP 7 5 149 87 3001 CC 1 1 0 + 7 48 204 0 0 11.968725 121 60 4171 320 ENST00000402868.3 0.054687 1 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123892672 123892672 __UNKNOWN__ 3'UTR SNP C C T rs140996203 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:123892672C>T ENST00000402868.3 + 0 1907 SETD8_ENST00000330479.4_3'UTR Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 NA NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) GTGAGGAAGACGCTGCCTCCC 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.*422C>T chr12.hg19:g.123892672C>T NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 3.06645 AGAxGCT COVERED NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 6 16.051356 KEEP 6 3 93 86 2851 CC 1 1 0 + 6 48 181 0 0 10.611883 115 60 3869 314 ENST00000402868.3 0.049587 1 ZNF664 144348 __UNKNOWN__ __UNKNOWN__ 12 124498324 124498324 __UNKNOWN__ 3'UTR SNP T T C rs78005948 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:124498324T>C ENST00000539644.1 + 0 3463 FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000392404.3_3'UTR|ZNF664_ENST00000538932.2_3'UTR|ZNF664_ENST00000337815.4_3'UTR Q8N3J9 ZN664_HUMAN zinc finger protein 664 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) TGGTAACAGATGGAGCTCCTT 0.428 NA NA T||| 235 0.0469249 0.0113 0.0533 5008 , , NA 19821 0 NA 0.1004 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9257.1 12q24.31 2013-05-10 ENSG00000179195 ENSG00000179195 144348 Zinc fingers, C2H2-type 25406 protein-coding gene gene with protein product NA zinc finger protein 176 ZNF176 NA 12477932 Standard NM_152437 NM_001204298 NA Approved ZFOC1, DKFZp761B128 uc001uga.3 Q8N3J9 OTTHUMG00000168596 ENST00000539644.1:c.*847T>C chr12.hg19:g.124498324T>C NA B3KP97|Q15914|Q3ZCQ7 hg19 CCDS9257.1 0.02 -0.412074 AGAxGGA COVERED NOVEL ZNF664-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400365.1 3 5.113986 KEEP 0 0 0 17 507 TT 0.999366 0.941145 0 + 3 60 102 0 0 6.818006 43 60 1288 87 ENST00000539644.1 0.065217 0.941741 BRI3BP 140707 __UNKNOWN__ __UNKNOWN__ 12 125511543 125511543 __UNKNOWN__ 3'UTR SNP G G A rs11058000 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:125511543G>A ENST00000341446.8 + 0 2414 NM_080626.5 NP_542193.3 BRI3 binding protein NA NA large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TGAAGCTGCTGGGGATCACGA 0.522 NA NA .||| 732 0.146166 0.1392 0.1369 5008 , , NA 15764 0.2173 NA 0.1322 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF284094 CCDS9262.1 12q24.1 2008-08-04 ENSG00000184992 ENSG00000184992 140707 14251 protein-coding gene gene with protein product 615627 NA 11860200, 17765869 Standard NM_080626 NM_080626 NA Approved BNAS1, KG19, HCCR-2 uc001uha.1 Q8WY22 OTTHUMG00000168548 ENST00000341446.8:c.*1567G>A chr12.hg19:g.125511543G>A NA hg19 CCDS9262.1 0.02 -0.245629 GCTxGGG COVERED NOVEL BRI3BP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400200.2 7 2.407679 KEEP 0 0 0 8 276 GG 0.99257 0.636582 0 + 5 60 149 0 0 11.581339 23 60 811 50 ENST00000341446.8 0.178571 0.641347 GLT1D1 144423 __UNKNOWN__ __UNKNOWN__ 12 129468005 129468005 __UNKNOWN__ 3'UTR SNP G G T rs470401 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:129468005G>T ENST00000442111.2 + 0 1499 GLT1D1_ENST00000281703.6_3'UTR|GLT1D1_ENST00000542193.1_3'UTR|GLT1D1_ENST00000537468.1_3'UTR Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 NA NA biosynthetic process (GO:0009058) cytoplasm (GO:0005737)|extracellular region (GO:0005576) transferase activity, transferring glycosyl groups (GO:0016757) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) GACTCCTCCCGCCTGCCTTCT 0.488 NA NA G||| 1198 0.239217 0.1944 0.2233 5008 , , NA 19347 0.3165 NA 0.2614 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9265.1 12q24.32 2013-02-22 ENSG00000151948 ENSG00000151948 144423 Glycosyltransferase group 1 domain containing 26483 protein-coding gene gene with protein product NA NA Standard NM_144669 NM_144669 NA Approved FLJ31978 uc001uhx.1 Q96MS3 OTTHUMG00000168437 ENST00000442111.2:c.*370G>T chr12.hg19:g.129468005G>T NA Q86XG8 hg19 0.02 1.537653 CCCxCCT COVERED NOVEL GLT1D1-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000399740.1 8 12.022656 KEEP 0 0 0 40 1337 GG 1 0.992094 0 + 5 60 151 0 0 10.01819 55 60 1803 141 ENST00000442111.2 0.083333 0.992094 TMEM132D 121256 __UNKNOWN__ __UNKNOWN__ 12 129556460 129556460 __UNKNOWN__ 3'UTR SNP T T C rs2292723 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:129556460T>C ENST00000422113.2 - 0 5586 TMEM132D_ENST00000389441.4_3'UTR NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D NA NA negative regulation of phosphatase activity (GO:0010923) integral component of membrane (GO:0016021) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGGATTCTCATTGAAAAGGGG 0.468 NA NA T||| 924 0.184505 0.0817 0.2781 5008 , , NA 19347 0.1696 NA 0.2247 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB061814 CCDS9266.1 12q24.32-q24.33 2014-06-13 ENSG00000151952 ENSG00000151952 121256 29411 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 153 611257 NA 11853319, 12966072 Standard NM_133448 NM_133448 NA Approved KIAA1944, MOLT, PPP1R153 uc009zyl.1 Q14C87 OTTHUMG00000168400 ENST00000422113.2:c.*1960A>G chr12.hg19:g.129556460T>C NA Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57 hg19 CCDS9266.1 0.02 -0.280647 TCAxTGA COVERED NOVEL TMEM132D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399592.1 4 4.212551 KEEP 0 0 0 14 441 TT 0.995343 0.736227 0 - 3 60 104 0 0 7.552582 28 60 828 62 ENST00000422113.2 0.096774 0.739671 GOLGA3 2802 __UNKNOWN__ __UNKNOWN__ 12 133346212 133346212 __UNKNOWN__ 3'UTR SNP A A G rs13254 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:133346212A>G ENST00000450791.2 - 0 8159 GOLGA3_ENST00000204726.3_3'UTR Q08378 GOGA3_HUMAN golgin A3 NA NA intra-Golgi vesicle-mediated transport (GO:0006891) cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) transporter activity (GO:0005215) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TTTTTGGAACATCAGAAAAAC 0.512 NA NA G||| 4370 0.872604 0.9932 0.8617 5008 , , NA 20550 0.8175 NA 0.7505 False NA ,,, NA NA NA 2504 0.8998 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF485338 CCDS9281.1, CCDS53846.1 12q24.33 2010-02-12 2010-02-12 ENSG00000090615 ENSG00000090615 2802 4426 protein-coding gene gene with protein product SY2/SY10 protein, Golgi complex-associated protein of 170 kD 602581 golgi autoantigen, golgin subfamily a, 3 NA 8315394, 15829563 Standard NM_005895 NM_001172557 NA Approved golgin-160, GCP170, MEA-2 uc001ukz.1 Q08378 OTTHUMG00000168023 ENST00000450791.2:c.*3479T>C chr12.hg19:g.133346212A>G NA A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3 hg19 CCDS9281.1 0.02 1.581797 AACxTCA COVERED NOVEL GOLGA3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397569.2 2 15.342012 KEEP 0 0 0 51 1530 AA 1 0.999881 0 - 5 60 167 0 0 10.656292 87 60 2558 182 ENST00000450791.2 0.054348 0.999881 ZNF26 7574 __UNKNOWN__ __UNKNOWN__ 12 133582153 133582153 __UNKNOWN__ Intron SNP T T C rs114821978 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:133582153T>C ENST00000328654.5 + 2 410 ZNF26_ENST00000537956.1_Intron|ZNF26_ENST00000534834.1_5'UTR NM_019591.3 NP_062537.2 P17031 ZNF26_HUMAN zinc finger protein 26 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(1)|large_intestine(7)|lung(2)|prostate(1)|skin(2) 13 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.24e-11)|all_epithelial(31;1.21e-08)|Lung NSC(355;0.000431) OV - Ovarian serous cystadenocarcinoma(86;9.53e-09)|Epithelial(86;2.63e-07)|all cancers(50;1.14e-05) tttgagtgtatcttccaaatt 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X52351 CCDS31939.1 12q24.33 2013-01-08 2006-05-10 ENSG00000198393 ENSG00000198393 7574 Zinc fingers, C2H2-type, - 13053 protein-coding gene gene with protein product 194537 zinc finger protein 26 (KOX 20) NA Standard NM_019591 NM_001256279 NA Approved KOX20, FLJ20755 uc031qkj.1 P17031 OTTHUMG00000167936 ENST00000328654.5:c.34-1475T>C chr12.hg19:g.133582153T>C NA Q86X57|Q9NWL3 hg19 CCDS31939.1 0.02 -0.385941 GTAxCTT COVERED NOVEL ZNF26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397145.2 3 4.815041 KEEP 0 0 0 16 518 TT 0.997832 0.91618 0 + 3 60 104 0 0 7.107914 40 60 1258 87 ENST00000328654.5 0.069767 0.918171 ZNF84 7637 __UNKNOWN__ __UNKNOWN__ 12 133639659 133639659 __UNKNOWN__ Intron SNP G G A rs11297 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:133639659G>A ENST00000535439.1 + 4 421 ZNF84_ENST00000327668.7_3'UTR|ZNF84_ENST00000392319.2_3'UTR P51523 ZNF84_HUMAN zinc finger protein 84 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|prostate(1) 13 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000535)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05) TTAAATGTGGGTGCAGTGAGT 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M27878 CCDS31940.1 12q24.33 2013-01-08 2006-05-12 7637 Zinc fingers, C2H2-type, - 13159 protein-coding gene gene with protein product NA zinc finger protein 84 (HPF2) NA Standard NM_003428 XM_005266184 NA Approved HPF2 uc009zyz.3 P51523 ENST00000535439.1:c.239-6G>A chr12.hg19:g.133639659G>A NA B2RAK5|D3DXJ1|Q3ZCV9|Q5D057|Q86XU8|Q9NNX7|Q9UC17|Q9UC18 hg19 0.02 1.590203 TGGxTGC COVERED NOVEL ZNF84-012 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397164.1 7 15.649281 KEEP 0 0 0 52 1780 GG 1 0.981955 0 + 4 60 123 0 0 7.955855 52 60 1804 146 ENST00000535439.1 0.071429 0.981955 ANHX 647589 __UNKNOWN__ __UNKNOWN__ 12 133795418 133795418 __UNKNOWN__ 3'UTR SNP C C G rs142613020 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr12:133795418C>G ENST00000545940.1 - 0 2931 ANHX_ENST00000419717.1_3'UTR E9PGG2 ANHX_HUMAN anomalous homeobox NA NA regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) NA GTTGACCAGGCAGACCATCCA 0.562 NA NA C||| 3393 0.677516 0.4569 0.7435 5008 , , NA 17338 0.8889 NA 0.6551 False NA ,,, NA NA NA 2504 0.7342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS53855.1 12q24.33 2012-05-18 ENSG00000227059 ENSG00000227059 647589 40024 protein-coding gene gene with protein product NA NA Standard NM_001191054 NA Approved uc010tci.2 E9PGG2 OTTHUMG00000167949 ENST00000545940.1:c.*53G>C chr12.hg19:g.133795418C>G NA Q96MC1 hg19 CCDS53855.1 0.02 1.528845 AGGxAGA COVERED NOVEL ANHX-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397203.1 1 15.085799 KEEP 0 1 37 63 2235 CC 1 0.999948 0 - 5 60 173 0 0 11.113802 93 60 3299 233 ENST00000545940.1 0.05102 0.999948 TUBA3C 7278 __UNKNOWN__ __UNKNOWN__ 13 19753554 19753554 __UNKNOWN__ Silent SNP C C T rs36215076 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:19753554C>T ENST00000400113.3 - 2 257 c.153G>A c.(151-153)acG>acA p.T51T NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 51 NA 'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CACTGAAGAACGTGTTGAAGG 0.567 NA NA C||| 150 0.0299521 0.0038 0.0461 5008 , , NA 18374 0.0129 NA 0.0586 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 C 73,4333 65.8+/-103.3 1,71,2131 199 163 175 153 -0.7 1 13 dbSNP_126 175 505,8095 144.7+/-200.5 20,465,3815 no coding-synonymous TUBA3C NM_006001.2 21,536,5946 TT,TC,CC 5.8721,1.6568,4.4441 51/451 19753554 578,12428 2203 4300 6503 SO:0001819 synonymous_variant AF005392 CCDS9284.1 13q12.11 2007-06-20 2007-02-12 2007-02-12 ENSG00000198033 ENSG00000198033 7278 Tubulins 12408 protein-coding gene gene with protein product 602528 tubulin, alpha 2 TUBA2 NA 9465305 Standard NM_006001 NM_006001 NA Approved bA408E5.3 uc009zzj.3 Q13748 OTTHUMG00000016481 ENST00000400113.3:c.153G>A chr13.hg19:g.19753554C>T NA A6NJQ0|Q5W099|Q6PEY3|Q96F18 hg19 CCDS9284.1 0.02 -0.324525 GAAxGTG COVERED NOVEL TUBA3C-002 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044007.2 3 8.426778 KEEP 2 0 0 28 954 CC 0.999997 0.835713 0 - 4 60 100 0 0 6.421075 33 60 1119 90 ENST00000400113.3 0.108108 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19775753 19775753 __UNKNOWN__ IGR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:19775753G>A NA NA RP11-408E5.4 (14257 upstream) : RP11-408E5.5 (61183 downstream) NA NA NA TTTTTTTTCTGGATAGCCAGG 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr13.hg19:g.19775753G>A NA hg19 0.02 1.441117 TCTxGAT COVERED NOVEL 0 5 3.447802 KEEP 0 4 121 54 1879 GG 1 0.9982 0 12 42 349 0 0 26.388058 62 60 2149 190 0.162162 0.9982 RP11-307N16.6 0 __UNKNOWN__ __UNKNOWN__ 13 24865029 24865029 __UNKNOWN__ Intron SNP G G A rs41287032 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:24865029G>A ENST00000382141.4 + 10 3292 SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000382095.4_Intron|SPATA13_ENST00000424834.2_Intron|SPATA13_ENST00000343003.6_Intron|SPATA13_ENST00000382108.3_Intron|SPATA13_ENST00000399949.2_Intron NA NA NA ACGGGTGAGGGGCATGGGTAA 0.572 NA NA G||| 187 0.0373403 0.0083 0.0591 5008 , , NA 17876 0.001 NA 0.1113 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 G , 77,4329 65.8+/-103.3 2,73,2128 24 26 25 , 0.1 0.5 13 dbSNP_127 25 896,7704 194.4+/-239.8 51,794,3455 no intron,intron SPATA13 NM_001166271.1,NM_153023.2 , 53,867,5583 AA,AG,GG 10.4186,1.7476,7.4812 , , 24865029 973,12033 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA NA ENST00000382141.4:c.2714+7G>A chr13.hg19:g.24865029G>A NA hg19 0.02 1.517441 AGGxGCA COVERED NOVEL RP11-307N16.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000472022.1 3 8.425288 KEEP 0 0 0 28 944 GG 0.999997 0.999801 0 + 6 60 184 0 0 11.76046 82 60 2738 149 ENST00000382141.4 0.068182 0.999804 ATP8A2 51761 __UNKNOWN__ __UNKNOWN__ 13 26594302 26594302 __UNKNOWN__ 3'UTR SNP A A G rs9581507 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:26594302A>G ENST00000381655.2 + 0 3888 ATP8A2_ENST00000255283.8_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 NA NA aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588) cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGTGCAGACCACAGGGGAAGC 0.483 NA NA G||| 199 0.0397364 0.1082 0.0259 5008 , , NA 21447 0.004 NA 0.0209 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL137256 CCDS41873.1 13q12 2010-04-20 2010-03-31 ENSG00000132932 ENSG00000132932 51761 3.6.3.1 ATPases / P-type 13533 protein-coding gene gene with protein product 605870 ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 NA 11015572, 19778899 Standard NM_016529 NM_016529 NA Approved ATPIB, ML-1 uc001uqk.3 Q9NTI2 OTTHUMG00000016611 ENST00000381655.2:c.*179A>G chr13.hg19:g.26594302A>G NA Q9H527|Q9NPU6|Q9NTL2|Q9NYM3 hg19 CCDS41873.1 0.02 -0.342047 ACCxCAG COVERED NOVEL ATP8A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044236.2 6 3.610875 KEEP 0 0 0 12 373 AA 0.993634 0.860234 0 + 4 60 132 0 0 9.557932 34 60 1004 67 ENST00000381655.2 0.105263 0.865745 USP12 219333 __UNKNOWN__ __UNKNOWN__ 13 27641693 27641693 __UNKNOWN__ 3'UTR SNP T T C rs9512533 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:27641693T>C ENST00000282344.6 - 0 3096 NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) CCAGAACATCTGTTTAAGCAG 0.303 NA NA T||| 2040 0.407348 0.2194 0.3573 5008 , , NA 17028 0.5069 NA 0.3777 False NA ,,, NA NA NA 2504 0.6247 NA NA NA Ovarian(37;808 911 7590 44442 44991) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL049221 CCDS31952.1 13q12.13 2010-05-12 2005-08-08 2003-10-08 ENSG00000152484 ENSG00000152484 219333 Ubiquitin-specific peptidases 20485 protein-coding gene gene with protein product NA ubiquitin specific protease 12 like 1, ubiquitin specific protease 12 USP12L1 NA 12838346 Standard NM_182488 NM_182488 NA Approved uc001uqy.3 O75317 OTTHUMG00000016626 ENST00000282344.6:c.*1727A>G chr13.hg19:g.27641693T>C NA A8K0X0|Q5VZV3|Q8TC49 hg19 CCDS31952.1 0.02 1.651836 ATCxGTT COVERED NOVEL USP12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044264.1 8 14.743758 KEEP 0 0 0 49 1532 TT 1 0.999559 0 - 5 60 163 0 0 10.515048 77 60 2357 185 ENST00000282344.6 0.060976 0.999559 FLT3 2322 __UNKNOWN__ __UNKNOWN__ 13 28623699 28623699 __UNKNOWN__ Intron SNP G G T rs9507985 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:28623699G>T ENST00000241453.7 - 8 964 FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Intron NM_004119.2 NP_004110.2 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 NA NA B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084) endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268) AACAGAGTTTGCATTTAATGT 0.338 NA NA Mis, O AML, ALL G||| 540 0.107827 0.0446 0.1599 5008 , , NA 20581 0.0496 NA 0.2237 False NA ,,, NA NA NA 2504 0.0971 NA NA NA Dom yes 13 13q12 2322 fms-related tyrosine kinase 3 L 0 G 345,4061 173.4+/-203.2 24,297,1882 83 81 81 2.7 0.7 13 dbSNP_119 81 1766,6834 317.4+/-313.2 189,1388,2723 no intron FLT3 NM_004119.2 213,1685,4605 TT,TG,GG 20.5349,7.8302,16.231 28623699 2111,10895 2203 4300 6503 SO:0001627 intron_variant U02687 CCDS31953.1 13q12 2014-09-17 ENSG00000122025 ENSG00000122025 2322 2.7.10.1 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3765 protein-coding gene gene with protein product 136351 NA 8394751 Standard NM_004119 NA Approved STK1, FLK2, CD135 uc001urw.3 P36888 OTTHUMG00000016646 ENST00000241453.7:c.883-25C>A chr13.hg19:g.28623699G>T NA A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414 hg19 CCDS31953.1 0.02 -0.35087 TTTxCAT COVERED NOVEL FLT3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000044319.2 1 6.621431 KEEP 0 0 0 22 765 GG 0.999879 0.877601 0 - 4 60 107 0 0 6.970682 36 60 1249 85 ENST00000241453.7 0.1 0.877708 ZAR1L 646799 __UNKNOWN__ __UNKNOWN__ 13 32886213 32886213 __UNKNOWN__ 5'UTR SNP G G A rs9534154 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:32886213G>A ENST00000533490.2 - 0 268 A6NP61 ZAR1L_HUMAN zygote arrest 1-like NA NA cytoplasm (GO:0005737) NS(1)|kidney(1) 2 ATTCTAATGGGAGCTGCTGCT 0.438 NA NA G||| 796 0.158946 0.1475 0.2176 5008 , , NA 18598 0.1567 NA 0.167 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS45023.1 13q13.1 2014-02-20 ENSG00000189167 ENSG00000189167 646799 37116 protein-coding gene gene with protein product zinc finger, 3CxxC-type 7 NA NA 18442940 Standard NM_001136571 NA Approved Z3CXXC7 uc010abc.1 A6NP61 OTTHUMG00000016694 ENST00000533490.2:c.-151C>T chr13.hg19:g.32886213G>A NA B2RV03|B7ZBU2 hg19 CCDS45023.1 0.02 -0.289481 TGGxAGC COVERED NOVEL ZAR1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044403.5 4 3.912053 KEEP 0 0 0 13 432 GG 0.994391 0.756619 0 - 3 60 92 0 0 6.310723 29 60 984 66 ENST00000533490.2 0.09375 0.760887 CSNK1A1L 122011 __UNKNOWN__ __UNKNOWN__ 13 37678149 37678149 __UNKNOWN__ 3'UTR SNP C C T rs1856028 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:37678149C>T ENST00000379800.3 - 0 1654 NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like NA NA cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) AAACCAGACACCACGTTTCAC 0.368 NA NA C||| 2694 0.537939 0.5484 0.4726 5008 , , NA 19725 0.7649 NA 0.3956 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028723 CCDS9363.1 13q13.2 2008-02-05 ENSG00000180138 ENSG00000180138 122011 20289 protein-coding gene gene with protein product NA NA Standard NM_145203 NM_145203 NA Approved MGC33182 uc001uwm.1 Q8N752 OTTHUMG00000016748 ENST00000379800.3:c.*231G>A chr13.hg19:g.37678149C>T NA Q5T2N2 hg19 CCDS9363.1 0.02 1.280516 ACAxCAC COVERED NOVEL CSNK1A1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044563.1 2 9.064349 KEEP 0 1 31 41 1435 CC 1 0.999317 0 - 5 60 148 0 0 9.045723 76 60 2664 173 ENST00000379800.3 0.061728 0.999317 TRPC4 7223 __UNKNOWN__ __UNKNOWN__ 13 38357494 38357494 __UNKNOWN__ De_novo_Start_OutOfFrame SNP G G A rs12583681 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:38357494G>A ENST00000379705.3 - 0 834 TRPC4_ENST00000355779.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000426868.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000379673.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000358477.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000447043.1_De_novo_Start_OutOfFrame|TRPC4_ENST00000338947.5_De_novo_Start_OutOfFrame|TRPC4_ENST00000379681.3_De_novo_Start_OutOfFrame Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 NA NA axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTATTTCTTCGTCTCTGAAAG 0.343 NA NA G||| 514 0.102636 0.0749 0.2061 5008 , , NA 15979 0.0556 NA 0.1511 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 G ,,,,, 377,4029 188.1+/-214.6 15,347,1841 50 49 49 ,,,,, 1.1 0 13 dbSNP_120 49 1266,7332 246.9+/-275.2 94,1078,3127 no utr-5,utr-5,utr-5,utr-5,utr-5,utr-5 TRPC4 NM_001135955.1,NM_001135956.1,NM_001135957.1,NM_001135958.1,NM_003306.1,NM_016179.2 ,,,,, 109,1425,4968 AA,AG,GG 14.7244,8.5565,12.6346 ,,,,, ,,,,, 38357494 1643,11361 2203 4299 6502 U40983 CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1 13q13.3 2013-01-10 ENSG00000133107 ENSG00000133107 7223 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 12336 protein-coding gene gene with protein product 603651 NA 8646775, 16382100 Standard NM_003306 NM_016179 NA Approved HTRP4, TRP4 uc010abx.3 Q9UBN4 OTTHUMG00000016752 ENST00000379705.3:c.-24C>T chr13.hg19:g.38357494G>A NA B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2 hg19 CCDS9365.1 0.02 1.405994 TTCxTCT COVERED NOVEL TRPC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044574.2 4 17.191174 KEEP 0 1 34 69 2387 GG 1 0.998993 0 - 5 60 153 0 0 9.627611 73 60 2477 224 ENST00000379705.3 0.064103 0.998993 FREM2 341640 __UNKNOWN__ __UNKNOWN__ 13 39458912 39458912 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:39458912T>C ENST00000280481.7 + 0 13714 NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 NA NA cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009) basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAGCCACACATACACACACAC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX538150 CCDS31960.1 13q13.3 2004-12-15 ENSG00000150893 ENSG00000150893 341640 25396 protein-coding gene gene with protein product 608945 NA 15345741 Standard NM_207361 NM_207361 NA Approved DKFZp686J0811 uc001uwv.3 Q5SZK8 OTTHUMG00000016759 ENST00000280481.7:c.*3988T>C chr13.hg19:g.39458912T>C NA Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341 hg19 CCDS31960.1 0.02 1.635421 ACAxACA COVERED NOVEL FREM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044599.2 26 2.576519 KEEP 0 2 73 34 1015 TT 1 0.999677 0 + 6 60 205 0 0 14.116325 74 60 2142 174 ENST00000280481.7 0.075 0.999678 ELF1 1997 __UNKNOWN__ __UNKNOWN__ 13 41533052 41533052 __UNKNOWN__ Missense_Mutation SNP T T C rs7799 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:41533052T>C ENST00000239882.3 - 3 487 c.173A>G c.(172-174)aAt>aGt p.N58S ELF1_ENST00000442101.1_Missense_Mutation_p.N58S|ELF1_ENST00000498824.1_5'UTR NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 58 NA N -> S (in dbSNP:rs7799). {ECO:0000269|PubMed:14702039}. cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) AATCATGTCATTGGGCTCTTC 0.453 NA NA T||| 2156 0.430511 0.1891 0.67 5008 , , NA 19736 0.1746 NA 0.7147 False NA ,,, NA NA NA 2504 0.5583 NA NA NA NA 0 T SER/ASN,SER/ASN 1133,3273 403.1+/-332.6 139,855,1209 225 165 186 173,173 0.3 1 13 dbSNP_52 186 5931,2669 685.2+/-404.0 2034,1863,403 yes missense,missense ELF1 NM_001145353.1,NM_172373.3 46,46 2173,2718,1612 CC,CT,TT 31.0349,25.7149,45.6866 probably-damaging,probably-damaging 58/596,58/620 41533052 7064,5942 2203 4300 6503 SO:0001583 missense M82882 CCDS9374.1 13q13 2008-07-18 ENSG00000120690 ENSG00000120690 1997 3316 protein-coding gene gene with protein product 189973 NA 1545787 Standard NM_172373 NM_001145353 NA Approved uc001uxs.3 P32519 OTTHUMG00000016783 ENST00000239882.3:c.173A>G chr13.hg19:g.41533052T>C ENSP00000239882:p.Asn58Ser NA B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1 hg19 CCDS9374.1 0.02 1.772352 TCAxTGG COVERED 1003 0.4592490842490842 110 0.22357723577235772 231 0.638121546961326 107 0.18706293706293706 555 0.7321899736147758 T 13.65 2.299755 0.40694 0.257149 0.689651 ENSG00000120690 ENST00000442101;ENST00000239882 T;T 0.46451 0.87;0.87 5.87 0.352 0.16051 . 0.274053 0.35970 N 0.002875 T 0.00012 0.0000 N 0.25485 0.75 0.35425 P 0.20647899999999997 B;B 0.15930 0.012;0.015 B;B 0.19666 0.019;0.026 T 0.30909 -0.9962 9 0.33940 T 0.23 . 9.5909 0.39545 0.0:0.3792:0.0:0.6208 rs7799;rs3208990;rs60754865;rs7799 58;58 E9PDQ9;P32519 .;ELF1_HUMAN S 58 ENSP00000405580:N58S;ENSP00000239882:N58S ENSP00000239882:N58S N - 2 0 ELF1 40431052 0.992000 0.36948 0.999000 0.59377 0.998000 0.95712 0.041000 0.13927 0.148000 0.19059 0.533000 0.62120 AAT NOVEL ELF1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044654.3 3 13.540301 KEEP 0 0 0 45 1385 TT 1 0.999895 0 - 4 60 141 0 0 8.887255 87 60 2637 197 ENST00000239882.3 0.043956 0.999895 MTRF1 9617 __UNKNOWN__ __UNKNOWN__ 13 41807950 41807950 __UNKNOWN__ Intron SNP T T C rs3751344 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:41807950T>C ENST00000379480.4 - 7 1089 MTRF1_ENST00000379477.1_Intron|MTRF1_ENST00000430347.2_Intron NM_004294.2 NP_004285.2 O75570 RF1M_HUMAN mitochondrial translational release factor 1 NA NA regulation of translational termination (GO:0006449) mitochondrion (GO:0005739) translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149) breast(1)|endometrium(4)|large_intestine(3)|lung(6) 14 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) CAGACACTCATATAGGACTAT 0.433 NA NA C||| 3092 0.617412 0.5847 0.6931 5008 , , NA 20235 0.5526 NA 0.6471 False NA ,,, NA NA NA 2504 0.6442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF072934 CCDS9378.1 13q14.1-q14.3 2008-07-18 ENSG00000120662 ENSG00000120662 9617 7469 protein-coding gene gene with protein product mitochontrial peptide chain release factor 1 604601 NA 9838146, 10773675 Standard NM_004294 NM_004294 NA Approved RF1, MTTRF1, MGC47721 uc001uxy.3 O75570 OTTHUMG00000016790 ENST00000379480.4:c.988+75A>G chr13.hg19:g.41807950T>C NA B4DG01|Q5T6Y5|Q8IUQ6 hg19 CCDS9378.1 0.02 -0.271822 TCAxATA COVERED NOVEL MTRF1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044666.3 2 4.211296 KEEP 0 0 0 14 402 TT 0.995343 0.713975 0 - 3 60 106 0 0 7.752627 28 60 783 63 ENST00000379480.4 0.096774 0.717315 RGCC 28984 __UNKNOWN__ __UNKNOWN__ 13 42042895 42042895 __UNKNOWN__ Intron SNP C C T rs545924977 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:42042895C>T ENST00000379359.3 + 4 492 RGCC_ENST00000487837.1_Intron NM_014059.2 NP_054778.2 Q9H4X1 RGCC_HUMAN regulator of cell cycle NA NA cellular response to hypoxia (GO:0071456)|complement activation (GO:0006956)|fibroblast activation (GO:0072537)|mitotic cell cycle arrest (GO:0071850)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of exit from mitosis (GO:0001100)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mitotic cell cycle phase transition (GO:1901991)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of mitosis (GO:0045840)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stress fiber assembly (GO:0051496) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634) protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412) NA tctctctctccctctcCTGTT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 47 44 45 NA NA 13 NA 42042895 1836 4091 5927 SO:0001627 intron_variant AF036549 CCDS41880.1 13q14.11 2012-02-20 2012-02-20 2012-02-20 ENSG00000102760 ENSG00000102760 28984 20369 protein-coding gene gene with protein product response gene to complement 32 610077 chromosome 13 open reading frame 15 C13orf15 NA 17146433, 19158077, 19652095 Standard NM_014059 NM_014059 NA Approved bA157L14.2, RGC-32, RGC32 uc001uyi.2 Q9H4X1 OTTHUMG00000016796 ENST00000379359.3:c.344-17C>T chr13.hg19:g.42042895C>T NA Q6NZ48|Q9UL69 hg19 CCDS41880.1 0.02 3.385448 CTCxCTC COVERED NOVEL RGCC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044684.1 12 15.084576 KEEP 0 1 16 56 1933 CC 1 0.999973 0 + 6 60 167 1 0 9.881754 91 70 3121 236 ENST00000379359.3 0.061856 0.999973 KLF12 11278 __UNKNOWN__ __UNKNOWN__ 13 74263386 74263386 __UNKNOWN__ 3'UTR SNP G G T rs4883946 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:74263386G>T ENST00000377669.2 - 0 7476 NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) GTACATTTCCGTCTCCCTTTT 0.428 NA NA T||| 3853 0.769369 0.7481 0.8184 5008 , , NA 18311 0.6994 NA 0.8757 False NA ,,, NA NA NA 2504 0.726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ243274 CCDS9449.1 13q22 2013-01-08 ENSG00000118922 ENSG00000118922 11278 Kruppel-like transcription factors, Zinc fingers, C2H2-type 6346 protein-coding gene gene with protein product KLF12 zinc finger transcriptional repressor, AP-2rep transcription factor, AP-2 repressor 607531 NA 10704285 Standard NM_007249 NM_007249 NA Approved AP-2rep, HSPC122, AP2REP uc001vjf.3 Q9Y4X4 OTTHUMG00000017078 ENST00000377669.2:c.*6241C>A chr13.hg19:g.74263386G>T NA A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0 hg19 CCDS9449.1 0.02 1.625335 TCCxTCT COVERED NOVEL KLF12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045271.2 1 7.249312 KEEP 0 1 28 34 1128 GG 1 0.97082 0 - 4 60 124 0 0 8.224071 47 60 1570 128 ENST00000377669.2 0.078431 0.97082 POU4F1 5457 __UNKNOWN__ __UNKNOWN__ 13 79174187 79174187 __UNKNOWN__ 3'UTR SNP T T C rs41288262 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:79174187T>C ENST00000377208.5 - 0 2834 RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 NA NA axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223) neuron projection (GO:0043005)|nuclear chromatin (GO:0000790) RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) CAAATGGGGGTGGGGGCACTT 0.408 NA NA T||| 431 0.0860623 0.1014 0.0648 5008 , , NA 17292 0.0069 NA 0.1044 False NA ,,, NA NA NA 2504 0.1431 NA NA NA Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X64624 CCDS31996.1 13q31.1 2011-06-20 2007-07-13 ENSG00000152192 ENSG00000152192 5457 Homeoboxes / POU class 9218 protein-coding gene gene with protein product 601632 POU domain class 4, transcription factor 1 BRN3A NA 1357630 Standard NM_006237 NA Approved RDC-1 uc001vkv.3 Q01851 OTTHUMG00000017119 ENST00000377208.5:c.*1363A>G chr13.hg19:g.79174187T>C NA Q14986|Q15318|Q5T227 hg19 CCDS31996.1 0.02 -0.412149 GGGxGGG COVERED NOVEL POU4F1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045360.3 3 6.91829 KEEP 0 0 0 23 690 TT 0.999892 0.94164 0 - 3 60 110 0 0 7.616848 43 60 1258 101 ENST00000377208.5 0.065217 0.941741 RNF219 79596 __UNKNOWN__ __UNKNOWN__ 13 79188965 79188965 __UNKNOWN__ 3'UTR SNP T T C rs201076486 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:79188965T>C ENST00000282003.6 - 0 2989 RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 NA NA zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TTTACACACATACACACACAC 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028586 CCDS31997.1 13q31.1 2011-05-23 2008-03-26 2008-03-26 ENSG00000152193 ENSG00000152193 79596 RING-type (C3HC4) zinc fingers 20308 protein-coding gene gene with protein product 615906 chromosome 13 open reading frame 7 C13orf7 NA Standard NM_024546 XM_006719865 NA Approved FLJ13449 uc001vkw.1 Q5W0B1 OTTHUMG00000017122 ENST00000282003.6:c.*750A>G chr13.hg19:g.79188965T>C NA B2RN99|Q8TBY2|Q9H0T2|Q9H8M0 hg19 CCDS31997.1 0.02 1.730956 ACAxACA COVERED NOVEL RNF219-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045363.1 14 8.122356 KEEP 0 0 0 27 794 TT 0.999988 0.998855 0 - 4 60 141 1 0 9.404781 64 60 1854 142 ENST00000282003.6 0.058824 0.998867 RNF219 79596 __UNKNOWN__ __UNKNOWN__ 13 79188976 79188976 __UNKNOWN__ 3'UTR SNP G G A rs539639290 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:79188976G>A ENST00000282003.6 - 0 2978 RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 NA NA zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) ACACACACACGCAGAGGAGAA 0.343 NA NA A||| 2 0.000399361 0 0 5008 , , NA 19812 0.002 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028586 CCDS31997.1 13q31.1 2011-05-23 2008-03-26 2008-03-26 ENSG00000152193 ENSG00000152193 79596 RING-type (C3HC4) zinc fingers 20308 protein-coding gene gene with protein product 615906 chromosome 13 open reading frame 7 C13orf7 NA Standard NM_024546 XM_006719865 NA Approved FLJ13449 uc001vkw.1 Q5W0B1 OTTHUMG00000017122 ENST00000282003.6:c.*739C>T chr13.hg19:g.79188976G>A NA B2RN99|Q8TBY2|Q9H0T2|Q9H8M0 hg19 CCDS31997.1 0.02 1.289341 CACxCAG COVERED NOVEL RNF219-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045363.1 7 5.350992 KEEP 0 1 32 29 967 GG 0.999997 0.999215 0 - 4 60 125 0 0 7.681411 69 60 2277 151 ENST00000282003.6 0.054795 0.999218 RAP2A 5911 __UNKNOWN__ __UNKNOWN__ 13 98118266 98118266 __UNKNOWN__ 3'UTR SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:98118266T>G ENST00000245304.4 + 0 2371 NM_021033.6 NP_066361.1 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family NA NA actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038) GTP binding (GO:0005525)|GTPase activity (GO:0003924) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) GAGTGTGTGTTTGTGTGTGCA 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF205602 CCDS9485.1 13q34 2014-05-09 ENSG00000125249 ENSG00000125249 5911 9861 protein-coding gene gene with protein product 179540 RAP2 NA Standard NM_021033 NA Approved K-REV uc001vnd.3 P10114 OTTHUMG00000017240 ENST00000245304.4:c.*1570T>G chr13.hg19:g.98118266T>G NA B2RCJ1|Q5JSC1|Q5JSC2 hg19 CCDS9485.1 0.02 3.912578 TGTxTGT COVERED NOVEL RAP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045528.4 17 9.56145 KEEP 0 1 32 43 1321 TT 1 0.999993 0 + 5 60 171 0 0 10.78542 99 60 3001 217 ENST00000245304.4 0.048077 0.999993 NALCN 259232 __UNKNOWN__ __UNKNOWN__ 13 101757011 101757011 __UNKNOWN__ Intron SNP A A C rs16958350 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:101757011A>C ENST00000251127.6 - 24 2718 NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective NA NA calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACTGCCAAAGACCAAACAAAA 0.418 NA NA A||| 187 0.0373403 0.0378 0.0144 5008 , , NA 19345 0.0605 NA 0.0189 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 A 165,4241 109.1+/-147.4 5,155,2043 111 99 103 3.2 0.8 13 dbSNP_123 103 190,8410 83.7+/-146.2 2,186,4112 no intron NALCN NM_052867.2 7,341,6155 CC,CA,AA 2.2093,3.7449,2.7295 101757011 355,12651 2203 4300 6503 SO:0001627 intron_variant AY141972 CCDS9498.1 13q32.3 2012-02-21 2007-04-26 2007-04-26 ENSG00000102452 ENSG00000102452 259232 Ion channels / Sodium leak channels, non-selective 19082 protein-coding gene gene with protein product 611549 voltage gated channel like 1 VGCNL1 NA 17448995 Standard NM_052867 XM_006719943 NA Approved bA430M15.1, CanIon uc001vox.1 Q8IZF0 OTTHUMG00000017295 ENST00000251127.6:c.2637-10T>G chr13.hg19:g.101757011A>C NA Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1 hg19 CCDS9498.1 0.02 1.935751 AAGxCCA COVERED NOVEL NALCN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045663.2 8 13.840668 KEEP 0 0 0 46 1420 AA 1 0.992094 0 - 4 60 141 0 0 9.599489 57 60 1715 156 ENST00000251127.6 0.065574 0.992094 IRS2 8660 __UNKNOWN__ __UNKNOWN__ 13 110407906 110407906 __UNKNOWN__ 3'UTR SNP T T C rs2289046 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:110407906T>C ENST00000375856.3 - 0 5276 NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 NA NA brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165) cytosol (GO:0005829)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CCCAATACAGTTGATTTTCAA 0.363 NA NA T||| 1459 0.291334 0.0719 0.402 5008 , , NA 17995 0.4653 NA 0.3101 False NA ,,, NA NA NA 2504 0.3108 NA NA NA Melanoma(100;613 2409 40847) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB000732 CCDS9510.1 13q34 2013-01-10 ENSG00000185950 ENSG00000185950 8660 Pleckstrin homology (PH) domain containing 6126 protein-coding gene gene with protein product 600797 NA 9312143 Standard NM_003749 NM_003749 NA Approved uc001vqv.3 Q9Y4H2 OTTHUMG00000017338 ENST00000375856.3:c.*745A>G chr13.hg19:g.110407906T>C NA Q96RR2|Q9BZG0|Q9Y6I5 hg19 CCDS9510.1 0.02 1.760374 CAGxTGA COVERED NOVEL IRS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045755.1 9 2.242275 KEEP 0 1 36 20 635 TT 0.999869 0.999357 0 - 5 60 177 0 0 11.938835 76 60 2290 140 ENST00000375856.3 0.061728 0.999487 COL4A1 1282 __UNKNOWN__ __UNKNOWN__ 13 110818598 110818598 __UNKNOWN__ Missense_Mutation SNP T T G rs3742207 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:110818598T>G ENST00000375820.4 - 45 4123 c.4002A>C c.(4000-4002)caA>caC p.Q1334H NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1334 Triple-helical region. NA Q -> H (in dbSNP:rs3742207). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21527998}. axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304) basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCGGGACGCCTTGATCGCCTT 0.473 NA NA T||| 1444 0.288339 0.2882 0.2334 5008 , , NA 18983 0.2629 NA 0.325 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 GRCh37 CM083606 COL4A1 M rs3742207 T HIS/GLN 1243,3163 428.5+/-341.9 179,885,1139 183 167 173 http://www.ncbi.nlm.nih.gov/pubmed?term 4002 -1.2 0.9 13 dbSNP_107 173 2935,5665 457.2+/-364.3 501,1933,1866 yes missense COL4A1 NM_001845.4 24 680,2818,3005 GG,GT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 34.1279,28.2115,32.1236 benign 1334/1670 110818598 4178,8828 2203 4300 6503 SO:0001583 missense J04217 CCDS9511.1 13q34 2013-09-05 ENSG00000187498 ENSG00000187498 1282 Collagens 2202 protein-coding gene gene with protein product 120130 NA 3691802 Standard NM_001845 NA Approved uc001vqw.4 P02462 OTTHUMG00000017342 ENST00000375820.4:c.4002A>C chr13.hg19:g.110818598T>G ENSP00000364979:p.Gln1334His NA A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5 hg19 CCDS9511.1 0.02 1.639971 GCCxTGA COVERED 639 0.2925824175824176 142 0.2886178861788618 89 0.24585635359116023 142 0.24825174825174826 266 0.35092348284960423 T 6.850 0.526111 0.13066 0.282115 0.341279 ENSG00000187498 ENST00000375815;ENST00000375820;ENST00000397198 D 0.93307 -3.2 4.68 -1.19 0.09585 . 0.072729 0.56097 D 0.000024 T 0.00012 0.0000 L 0.33093 0.98 0.09310 P 0.9999999999992717 B 0.29988 0.264 B 0.37550 0.253 T 0.04065 -1.0980 9 0.39692 T 0.17 . 10.2129 0.43152 0.0:0.3302:0.0:0.6698 rs3742207;rs17517176;rs61457243;rs3742207 1334 P02462 CO4A1_HUMAN H 977;1334;983 ENSP00000364979:Q1334H ENSP00000364973:Q977H Q - 3 2 COL4A1 109616599 1.000000 0.71417 0.874000 0.34290 0.050000 0.14768 0.460000 0.21924 -0.086000 0.12550 -1.070000 0.02257 CAA NOVEL COL4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045759.3 3 18.655543 KEEP 0 0 0 62 1936 TT 1 0.9982 0 - 5 60 168 0 0 11.242466 69 60 2118 184 ENST00000375820.4 0.067568 0.9982 MCF2L 23263 __UNKNOWN__ __UNKNOWN__ 13 113749475 113749475 __UNKNOWN__ Intron SNP G G A rs2146752 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:113749475G>A ENST00000535094.2 + 27 3234 MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000423482.2_Intron NM_001112732.2 NP_001106203.2 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CATTGTTAATGTCAGAAGCAA 0.413 NA NA OREG0003850 type=REGULATORY REGION|Gene=MCF2L|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay g||| 3135 0.625998 0.5219 0.7233 5008 , , NA 22233 0.6895 NA 0.7038 False NA ,,, NA NA NA 2504 0.5521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002360 CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2 13q34 2013-01-10 ENSG00000126217 ENSG00000126217 23263 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14576 protein-coding gene gene with protein product 609499 NA 9205841 Standard NM_001112732 NA Approved KIAA0362, DBS, OST, ARHGEF14 uc010tjr.2 O15068 OTTHUMG00000017377 ENST00000535094.2:c.3075+526G>A chr13.hg19:g.113749475G>A 1452 A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679 hg19 CCDS45070.2 0.02 1.201581 AATxTCA COVERED NOVEL MCF2L-005 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045853.4 6 19.797799 KEEP 0 1 29 76 2646 GG 1 0.999835 0 + 5 60 142 0 0 8.265919 83 60 2871 231 ENST00000535094.2 0.056818 0.999835 TMCO3 55002 __UNKNOWN__ __UNKNOWN__ 13 114188339 114188339 __UNKNOWN__ Intron SNP C C T rs376392363 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr13:114188339C>T ENST00000434316.2 + 9 1702 TMCO3_ENST00000474393.1_Intron|TMCO3_ENST00000375391.1_Intron NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 NA NA integral component of membrane (GO:0016021) solute:proton antiporter activity (GO:0015299) NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) AGTGAAATCACGTCTCTTTTT 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C 0,4406 0,0,2203 156 153 154 1.4 0 13 154 1,8599 1.2+/-3.3 0,1,4299 no intron TMCO3 NM_017905.4 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 114188339 1,13005 2203 4300 6503 SO:0001627 intron_variant BC012564 CCDS9537.1 13q34 2008-02-05 2005-07-22 2005-07-22 ENSG00000150403 ENSG00000150403 55002 20329 protein-coding gene gene with protein product NA chromosome 13 open reading frame 11 C13orf11 NA Standard NM_017905 NM_017905 NA Approved FLJ20623 uc001vtu.4 Q6UWJ1 OTTHUMG00000017389 ENST00000434316.2:c.1344-21C>T chr13.hg19:g.114188339C>T NA Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2 hg19 CCDS9537.1 0.02 1.076362 TCAxGTC COVERED NOVEL TMCO3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045931.3 5 16.387576 KEEP 0 1 30 65 2257 CC 1 0.999895 0 + 5 60 144 0 0 8.341306 88 60 2980 230 ENST00000434316.2 0.053763 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 20586635 20586635 __UNKNOWN__ IGR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:20586635G>C NA NA OR4K17 (38 upstream) : OR4N5 (25259 downstream) NA NA NA catggtggctgatgcctgtaa 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 8 8 8 NA NA 14 NA 20586635 1948 4143 6091 SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.20586635G>C NA hg19 0.02 1.765731 GCTxATG COVERED NOVEL 0 9 6.357201 KEEP 1 1 37 34 1191 GG 0.999999 0.997162 0 4 60 142 0 0 9.530508 63 60 2178 156 0.059701 0.997163 KLHL33 123103 __UNKNOWN__ __UNKNOWN__ 14 20897882 20897882 __UNKNOWN__ Intron SNP G G A rs17111534 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:20897882G>A ENST00000344581.4 - 3 1104 NM_001109997.2 NP_001103467.2 A6NCF5 KLH33_HUMAN kelch-like family member 33 NA NA NA all_cancers(95;0.00123) Epithelial(56;7.57e-08)|all cancers(55;8.63e-07) GBM - Glioblastoma multiforme(265;0.0223)|READ - Rectum adenocarcinoma(17;0.193) TCCGTGGTTGGCTAGGCCAGC 0.577 NA NA g||| 1049 0.209465 0.4183 0.111 5008 , , NA 18272 0.0397 NA 0.1978 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS53882.1 14q11.2 2013-10-15 2013-02-22 ENSG00000185271 ENSG00000185271 123103 Kelch-like 31952 protein-coding gene gene with protein product NA kelch-like 33 (Drosophila) NA Standard XM_063481 NM_001109997 NA Approved uc010tli.2 A6NCF5 OTTHUMG00000170982 ENST00000344581.4:c.882-54C>T chr14.hg19:g.20897882G>A NA hg19 CCDS53882.1 0.02 3.189348 TTGxCTA COVERED NOVEL KLHL33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411038.1 7 26.754948 KEEP 0 0 0 89 3049 GG 1 0.999995 0 - 6 60 188 0 0 11.488049 107 60 3789 294 ENST00000344581.4 0.053097 0.999995 ABHD4 63874 __UNKNOWN__ __UNKNOWN__ 14 23081223 23081223 __UNKNOWN__ 3'UTR SNP T T C rs9339 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:23081223T>C ENST00000428304.2 + 0 2468 NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 NA NA lipid catabolic process (GO:0016042) hydrolase activity (GO:0016787) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) TCCAGCTGCCTTGGGCTCCTT 0.448 NA NA C||| 3492 0.697284 0.6936 0.6585 5008 , , NA 19508 0.8006 NA 0.675 False NA ,,, NA NA NA 2504 0.6462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022878 CCDS9572.1 14q11.1 2006-10-06 ENSG00000100439 ENSG00000100439 63874 Abhydrolase domain containing 20154 protein-coding gene gene with protein product NA NA Standard NM_022060 NA Approved FLJ12816 uc001wgm.3 Q8TB40 OTTHUMG00000028686 ENST00000428304.2:c.*1369T>C chr14.hg19:g.23081223T>C NA B4DDH7|Q9H9E0 hg19 CCDS9572.1 0.02 -0.438003 GCCxTGG COVERED NOVEL ABHD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071623.3 5 7.824058 KEEP 0 0 0 26 838 TT 0.999957 0.959818 0 + 3 60 107 0 0 7.206652 47 60 1432 100 ENST00000428304.2 0.06 0.959859 MYH6 4624 __UNKNOWN__ __UNKNOWN__ 14 23874851 23874851 __UNKNOWN__ Silent SNP C C T rs77679218 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:23874851C>T ENST00000356287.3 - 3 359 c.330G>A c.(328-330)gcG>gcA p.A110A MYH6_ENST00000405093.3_Silent_p.A110A P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 110 Myosin motor. NA adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522) cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018) actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCATCCAGGCCGCGTAGCGCT 0.587 NA NA c||| 7 0.00139776 0 0 5008 , , NA 19293 0 NA 0.007 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 11,4395 0,11,2192 126 95 105 330 -8.2 0.4 14 dbSNP_132 105 44,8556 0,44,4256 no coding-synonymous MYH6 NM_002471.3 0,55,6448 TT,TC,CC 0.5116,0.2497,0.4229 110/1940 23874851 55,12951 2203 4300 6503 SO:0001819 synonymous_variant D00943 CCDS9600.1 14q11.2-q13 2014-09-17 2008-08-01 ENSG00000197616 ENSG00000197616 4624 Myosins / Myosin superfamily : Class II 7576 protein-coding gene gene with protein product cardiomyopathy, hypertrophic 1 160710 myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) NA 2144212 Standard NM_002471 NA Approved uc001wjv.3 P13533 OTTHUMG00000028753 ENST00000356287.3:c.330G>A chr14.hg19:g.23874851C>T NA A2RTX1|D9YZU2|Q13943|Q14906|Q14907 hg19 CCDS9600.1 0.02 1.298608 GGCxGCG COVERED NOVEL MYH6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071796.3 2 4.582827 KEEP 0 2 59 36 1214 CC 1 0.99911 0 - 5 60 143 0 0 8.610573 74 60 2449 152 ENST00000356287.3 0.063291 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 34901952 34901952 __UNKNOWN__ IGR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:34901952A>G NA NA EGLN3 (302702 upstream) : SPTSSA (42 downstream) NA NA NA ccctccaccaacaaaaaatta 0.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.34901952A>G NA hg19 0.02 1.859991 CCAxCAA COVERED NOVEL 0 13 7.256259 KEEP 1 1 31 35 1100 AA 0.999999 0.999487 0 4 60 143 0 0 9.292547 77 60 2353 176 0.049383 0.999487 EAPP 55837 __UNKNOWN__ __UNKNOWN__ 14 34985645 34985645 __UNKNOWN__ Silent SNP G G A rs7797 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:34985645G>A ENST00000250454.3 - 6 810 c.729C>T c.(727-729)gcC>gcT p.A243A NM_018453.3 NP_060923.2 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 243 NA negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) CTGCCTTCTCGGCAGCATCTT 0.448 NA NA G||| 1387 0.276957 0.2897 0.219 5008 , , NA 18456 0.1905 NA 0.3678 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 G 1303,2659 223,857,901 242 239 240 729 -3 0 14 dbSNP_52 240 3090,5210 569,1952,1629 no coding-synonymous EAPP NM_018453.3 792,2809,2530 AA,AG,GG 37.2289,32.8874,35.8261 243/286 34985645 4393,7869 1981 4150 6131 SO:0001819 synonymous_variant AF217512 CCDS41941.1 14q13 2007-03-26 2007-03-26 2007-03-26 ENSG00000129518 55837 19312 protein-coding gene gene with protein product 609486 chromosome 14 open reading frame 11 C14orf11 NA 15716352 Standard NM_018453 NM_018453 NA Approved BM036, FLJ20578 uc001wsd.1 Q56P03 ENST00000250454.3:c.729C>T chr14.hg19:g.34985645G>A NA Q9BVF4|Q9NWV5|Q9NZ86 hg19 CCDS41941.1 0.02 3.259411 CTCxGCA COVERED NOVEL EAPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409847.1 5 11.900513 KEEP 0 2 64 62 2049 GG 1 0.999984 0 - 6 60 187 0 0 11.611513 98 60 3326 232 ENST00000250454.3 0.057692 0.999984 SEC23A 10484 __UNKNOWN__ __UNKNOWN__ 14 39517925 39517925 __UNKNOWN__ Silent SNP T T C rs11556216 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:39517925T>C ENST00000307712.6 - 15 2185 c.1668A>G c.(1666-1668)aaA>aaG p.K556K SEC23A_ENST00000537403.1_Silent_p.K354K|SEC23A_ENST00000545328.2_Silent_p.K527K|SEC23A_ENST00000536508.1_Silent_p.K430K NM_006364.2 NP_006355.2 Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 556 NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192) COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471) zinc ion binding (GO:0008270) kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) ATTCTCCAAATTTCTGACACT 0.299 NA NA T||| 1241 0.247804 0.0673 0.281 5008 , , NA 15501 0.3065 NA 0.3509 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 T 506,3900 222.3+/-239.2 25,456,1722 55 62 60 1668 1.9 1 14 dbSNP_121 60 2946,5654 450.2+/-362.3 535,1876,1889 no coding-synonymous SEC23A NM_006364.2 560,2332,3611 CC,CT,TT 34.2558,11.4843,26.5416 556/766 39517925 3452,9554 2203 4300 6503 SO:0001819 synonymous_variant X97064 CCDS9668.1 14q21.1 2008-05-14 2001-11-28 ENSG00000100934 ENSG00000100934 10484 10701 protein-coding gene gene with protein product 610511 Sec23 (S. cerevisiae) homolog A NA 8898360, 10329445 Standard NM_006364 NA Approved uc001wup.1 Q15436 OTTHUMG00000028812 ENST00000307712.6:c.1668A>G chr14.hg19:g.39517925T>C NA B2R5P4|B3KXI2|Q8NE16 hg19 CCDS9668.1 0.02 -0.271901 AAAxTTC COVERED NOVEL SEC23A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276728.2 0 4.186889 KEEP 0 0 0 14 438 TT 0.995343 0.713975 0 - 3 60 110 0 0 8.152011 28 60 873 66 ENST00000307712.6 0.096774 0.717315 FKBP3 2287 __UNKNOWN__ __UNKNOWN__ 14 45587806 45587806 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:45587806T>C ENST00000216330.3 - 7 933 FKBP3_ENST00000396062.3_Intron Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa NA NA chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634) FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872) NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 12 tgcactccagtctgggcaaca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M96256 CCDS9683.1 14q21.2 2008-08-11 2002-08-29 ENSG00000100442 ENSG00000100442 2287 3719 protein-coding gene gene with protein product 186947 FK506-binding protein 3 (25kD) NA 1374240, 1532945 Standard NM_002013 NM_002013 NA Approved FKBP-25, PPIase uc010tqf.2 Q00688 OTTHUMG00000140267 ENST00000216330.3:c.523-478A>G chr14.hg19:g.45587806T>C NA B2R4Q9|Q14317 hg19 CCDS9683.1 0.02 2.079801 CAGxCTG COVERED NOVEL FKBP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276796.1 17 5.414243 KEEP 0 0 0 18 532 TT 0.999859 0.984023 0 - 4 60 150 1 0 10.753455 49 60 1469 111 ENST00000216330.3 0.075472 0.984161 TBPL2 387332 __UNKNOWN__ __UNKNOWN__ 14 55880341 55880341 __UNKNOWN__ 3'UTR SNP G G C rs1572610 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:55880341G>C ENST00000247219.5 - 0 1954 NM_199047.2 NP_950248.1 TATA box binding protein like 2 NA NA endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 CTAAGTGCTTGTCTGGGTGGA 0.448 NA NA C||| 4591 0.916733 0.9796 0.8429 5008 , , NA 18888 1 NA 0.7903 False NA ,,, NA NA NA 2504 0.9284 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY457923 CCDS9724.1 14q22.2 2004-06-03 ENSG00000182521 ENSG00000182521 387332 19841 protein-coding gene gene with protein product 608964 NA 14634207 Standard NM_199047 NM_199047 NA Approved TRF3, TBP2 uc001xby.3 Q6SJ96 OTTHUMG00000140313 ENST00000247219.5:c.*756C>G chr14.hg19:g.55880341G>C NA hg19 CCDS9724.1 0.02 1.710696 CTTxTCT COVERED NOVEL TBPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276916.1 5 18.959519 KEEP 0 0 0 63 2216 GG 1 0.999962 0 - 7 60 243 0 0 16.629138 93 60 3264 236 ENST00000247219.5 0.07 0.999962 TMEM260 54916 __UNKNOWN__ __UNKNOWN__ 14 57082648 57082648 __UNKNOWN__ Intron SNP A A G rs2275024 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:57082648A>G ENST00000261556.6 + 8 979 TMEM260_ENST00000538838.1_Intron|TMEM260_ENST00000536419.1_Intron|TMEM260_ENST00000553335.1_Intron NM_017799.3 NP_060269.3 Q9NX78 TM260_HUMAN transmembrane protein 260 NA NA integral component of membrane (GO:0016021) NA AATAAGTTAGATTGTTTTTTG 0.348 NA NA G||| 2991 0.597244 0.8207 0.4179 5008 , , NA 16932 0.4365 NA 0.5666 False NA ,,, NA NA NA 2504 0.6196 NA NA NA NA 0 G 3502,904 348.2+/-309.8 1397,708,98 105 111 109 0.2 0.2 14 dbSNP_100 109 4997,3603 520.5+/-379.7 1456,2085,759 no intron C14orf101 NM_017799.3 2853,2793,857 GG,GA,AA 41.8953,20.5175,34.6532 57082648 8499,4507 2203 4300 6503 SO:0001627 intron_variant AK000399 CCDS9727.2 14q22.2 2013-03-08 2013-03-08 2013-03-08 ENSG00000070269 ENSG00000070269 54916 20185 protein-coding gene gene with protein product NA chromosome 14 open reading frame 101 C14orf101 NA Standard NM_017799 XR_245695 NA Approved FLJ20392 uc001xcm.3 Q9NX78 OTTHUMG00000152337 ENST00000261556.6:c.858-14A>G chr14.hg19:g.57082648A>G NA A8KAN4|B3KPF5|Q86XE1 hg19 CCDS9727.2 0.02 -0.385948 TAGxTTG COVERED NOVEL TMEM260-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276924.1 2 4.813463 KEEP 0 0 0 16 492 AA 0.997832 0.91618 0 + 3 60 106 0 0 7.276676 41 60 1288 83 ENST00000261556.6 0.068182 0.918171 GPR135 64582 __UNKNOWN__ __UNKNOWN__ 14 59927920 59927920 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:59927920A>G ENST00000395116.1 - 0 4140 NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.134) CAAAAATGGTAgatgatgatc 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY288418 CCDS9738.1 14q23.1 2012-08-21 ENSG00000181619 ENSG00000181619 64582 GPCR / Class A : Orphans 19991 protein-coding gene gene with protein product 607970 NA 14623098 Standard NM_022571 NM_022571 NA Approved HUMNPIIY20, PAFR uc010apj.3 Q8IZ08 OTTHUMG00000140325 ENST00000395116.1:c.*2540T>C chr14.hg19:g.59927920A>G NA Q7Z604|Q86SM3|Q8NH39 hg19 CCDS9738.1 0.02 1.678302 GGTxGAT COVERED NOVEL GPR135-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276941.1 2 4.146903 KEEP 0 1 38 27 816 AA 0.999997 0.999314 0 - 11 60 359 0 0 27.179293 70 60 2023 146 ENST00000395116.1 0.135802 0.999317 DHRS7 51635 __UNKNOWN__ __UNKNOWN__ 14 60615722 60615722 __UNKNOWN__ Intron SNP G G A rs370105 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:60615722G>A ENST00000216500.5 - 7 1428 PCNXL4_ENST00000553898.1_Intron|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000557185.1_Intron|DHRS7_ENST00000536410.2_Intron Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 NA NA membrane (GO:0016020) oxidoreductase activity (GO:0016491) endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) atagagtctcgctctatcacc 0.438 NA NA G||| 1812 0.361821 0.5893 0.1571 5008 , , NA 17369 0.3472 NA 0.1501 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151844 CCDS9743.1 14q23.1 2011-09-20 ENSG00000100612 ENSG00000100612 51635 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 21524 protein-coding gene gene with protein product retinal short-chain dehydrogenase/reductase 4, short chain dehydrogenase/reductase family 34C, member 1 612833 NA 10800688, 10810093, 19027726 Standard NM_016029 NM_016029 NA Approved retDSR4, SDR34C1 uc001xes.3 Q9Y394 OTTHUMG00000140331 ENST00000216500.5:c.972+348C>T chr14.hg19:g.60615722G>A NA B2R896|Q9UKU2 hg19 CCDS9743.1 0.02 3.683914 CTCxCTC COVERED NOVEL DHRS7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276947.2 35 31.064742 KEEP 0 2 62 125 4304 GG 1 1 0 - 8 60 226 0 0 12.651944 152 60 5240 433 ENST00000216500.5 0.05 1 PPM1A 5494 __UNKNOWN__ __UNKNOWN__ 14 60760411 60760411 __UNKNOWN__ 3'UTR SNP A A T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:60760411A>T ENST00000395076.4 + 0 2790 NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A NA NA cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891) calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871) cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) tgtgtttgtgagtgtgtgtTT 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant S87759 CCDS9744.1, CCDS9745.1, CCDS45120.1 14q23.1 2013-01-24 2010-03-05 ENSG00000100614 ENSG00000100614 5494 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 9275 protein-coding gene gene with protein product phosphatase 2C alpha, protein phosphatase 2C, alpha isoform 606108 protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform NA 1311954 Standard NM_021003 NM_177952 NA Approved MGC9201, PP2Calpha, PP2CA uc001xew.4 P35813 OTTHUMG00000140333 ENST00000395076.4:c.*1211A>T chr14.hg19:g.60760411A>T NA B5BU11|J3KNM0|O75551 hg19 CCDS9744.1 0.02 2.715527 GTGxGTG COVERED NOVEL PPM1A-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000276949.2 31 2.305166 KEEP 0 3 86 38 1136 AA 1 0.999999 0 + 6 60 183 0 0 10.993714 107 60 3126 212 ENST00000395076.4 0.053097 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 61643078 61643078 __UNKNOWN__ IGR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:61643078G>C NA NA SLC38A6 (92628 upstream) : SNORD112 (86600 downstream) NA NA NA CCCATGCCCTGCTTGTGATGC 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 113 105 108 NA NA 14 NA 61643078 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA NA chr14.hg19:g.61643078G>C NA hg19 0.02 1.765738 CCTxCTT COVERED NOVEL 0 4 14.748541 KEEP 0 0 0 49 1770 GG 1 0.997163 0 5 60 171 0 0 11.666173 65 60 2242 172 0.071429 0.997163 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64565582 64565582 __UNKNOWN__ Intron SNP T T C rs9323444 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:64565582T>C ENST00000554584.1 + 63 12531 SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000344113.4_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Intron|SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000358025.3_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAGAACCAGATCTCTAAAAGA 0.333 NA NA C||| 2060 0.411342 0.3638 0.3977 5008 , , NA 19339 0.5893 NA 0.3787 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 C , 1665,2741 645.0+/-398.1 307,1051,845 71 79 76 , -3.7 0 14 dbSNP_119 76 3247,5353 637.9+/-399.3 618,2011,1671 no intron,intron SYNE2 NM_015180.4,NM_182914.2 , 925,3062,2516 CC,CT,TT 37.7558,37.7894,37.7672 , , 64565582 4912,8094 2203 4300 6503 SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.12480+43T>C chr14.hg19:g.64565582T>C NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 1.596075 AGAxCTC COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 5 18.656431 KEEP 0 0 0 62 1953 TT 1 0.99911 0 + 4 60 138 0 0 8.837566 75 60 2367 194 ENST00000554584.1 0.050633 0.99911 RAD51B 5890 __UNKNOWN__ __UNKNOWN__ 14 69117512 69117512 __UNKNOWN__ Missense_Mutation SNP T T C rs8023214 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:69117512T>C ENST00000488612.1 + 11 1078 c.1051T>C c.(1051-1053)Tgc>Cgc p.C351R RAD51B_ENST00000390683.3_Missense_Mutation_p.C351R O15315 RA51B_HUMAN RAD51 paralog B 0 NA ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697) HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 ttggcacatttgcatatctgg 0.368 NA NA Direct reversal of damage C||| 2647 0.528554 0.7194 0.5562 5008 , , NA 20421 0.2956 NA 0.5736 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 C 1220,532 420,380,76 21 22 21 -0.1 0 14 dbSNP_116 21 2339,1643 666,1007,318 no intergenic 1086,1387,394 CC,CT,TT 41.2607,30.3653,37.9316 69117512 3559,2175 876 1991 2867 SO:0001583 missense U84138 CCDS9789.1, CCDS9790.1 14q23-q24.2 2013-07-02 2013-07-02 2011-07-01 ENSG00000182185 ENSG00000182185 5890 9822 protein-coding gene gene with protein product 602948 RAD51 (S. cerevisiae)-like 1, RAD51-like 1 (S. cerevisiae), RAD51 homolog B (S. cerevisiae) RAD51L1 NA 6261043, 9207106 Standard NM_002877 NA Approved REC2, hREC2, R51H2 uc001xkf.2 O15315 OTTHUMG00000157530 ENST00000488612.1:c.1051T>C chr14.hg19:g.69117512T>C ENSP00000420061:p.Cys351Arg NA O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5 hg19 0.02 3.529222 ATTxGCA COVERED 1113 0.5096153846153846 375 0.7621951219512195 183 0.505524861878453 129 0.22552447552447552 426 0.5620052770448549 C 1.342 -0.593751 0.03771 0.696347 0.587393 ENSG00000182185 ENST00000488612;ENST00000390683 T;T 0.36878 1.23;1.23 3.85 -0.125 0.13519 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.06786 0.001 B 0.04013 0.001 T 0.24728 -1.0152 7 0.28530 T 0.3 . 5.2644 0.15591 0.0:0.109:0.3123:0.5787 rs8023214;rs17835134;rs56472630;rs60835893;rs8023214 351 O15315-4 . R 351 ENSP00000420061:C351R;ENSP00000375101:C351R ENSP00000375101:C351R C + 1 0 RAD51B 68187265 0.350000 0.24878 0.008000 0.14137 0.016000 0.09150 0.189000 0.17037 -0.281000 0.09141 -1.337000 0.01257 TGC NOVEL RAD51B-005 KNOWN basic protein_coding NA protein_coding OTTHUMT00000349064.1 2 22.863855 KEEP 0 0 0 76 2278 TT 1 1 0 + 5 60 168 0 0 9.973696 126 60 3655 293 ENST00000488612.1 0.038168 1 SLC8A3 6547 __UNKNOWN__ __UNKNOWN__ 14 70513755 70513755 __UNKNOWN__ Intron SNP T T A rs1903201 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:70513755T>A ENST00000216568.7 - 6 847 SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000394330.2_Intron NM_001130417.1 NP_001123889.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 NA NA blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085) dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) calcium:sodium antiporter activity (GO:0005432) NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) tcacataggatgttagcaaga 0.403 NA NA T||| 328 0.0654952 0.0976 0.0202 5008 , , NA 20960 0.0109 NA 0.0467 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ304852 CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1 14q24.1 2013-05-22 2008-09-02 ENSG00000100678 ENSG00000100678 6547 Solute carriers 11070 protein-coding gene gene with protein product 607991 NA 8798769 Standard XM_005268017 NA Approved NCX3 uc001xly.3 P57103 OTTHUMG00000152342 ENST00000216568.7:c.521-715A>T chr14.hg19:g.70513755T>A NA Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2 hg19 CCDS45131.1 0.02 -0.359555 GGAxGTT COVERED NOVEL SLC8A3-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000390737.1 2 3.306711 KEEP 0 0 0 11 306 TT 0.993072 0.882717 0 - 5 60 157 0 0 11.543684 35 60 1024 66 ENST00000216568.7 0.125 0.888875 MAP3K9 4293 __UNKNOWN__ __UNKNOWN__ 14 71196428 71196428 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:71196428G>A ENST00000553414.1 - 0 3498 MAP3K9_ENST00000554752.2_3'UTR|MAP3K9_ENST00000555993.2_3'UTR P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 NA NA activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCGTCCCCCCGTTCTCACTGA 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GBM(114;411 1587 13539 28235 50070) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF251442 CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1 14q24.2 2012-10-02 ENSG00000006432 ENSG00000006432 4293 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6861 protein-coding gene gene with protein product 600136 MLK1 NA Standard NM_001284231 NA Approved PRKE1, MEKK9 uc001xml.3 P80192 OTTHUMG00000171249 ENST00000553414.1:c.*669C>T chr14.hg19:g.71196428G>A NA A3KN85|Q0D2G7|Q6EH31|Q9H2N5 hg19 0.02 1.015024 CCCxTTC COVERED NOVEL MAP3K9-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412552.1 4 12.339263 KEEP 0 0 0 41 1390 GG 1 0.999962 0 - 5 60 147 0 0 8.500452 94 60 3072 192 ENST00000553414.1 0.050505 0.999962 PCNX 22990 __UNKNOWN__ __UNKNOWN__ 14 71581935 71581935 __UNKNOWN__ 3'UTR SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:71581935C>G ENST00000304743.2 + 0 12755 PCNX_ENST00000238570.5_3'UTR NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) NA NA integral component of membrane (GO:0016021) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTACGTGTGTCTGTGAGTGTG 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF233450, AB018348 CCDS9806.1 14q24.2 2014-07-03 22990 19740 protein-coding gene gene with protein product NA pecanex-like 1 (Drosophila) PCNXL1 NA 9244429, 15777640 Standard NM_014982 NM_014982 NA Approved KIAA0995, KIAA0805, pecanex uc001xmo.2 Q96RV3 ENST00000304743.2:c.*5283C>G chr14.hg19:g.71581935C>G NA B2RTR6|O94897|Q96AI7|Q9Y2J9 hg19 CCDS9806.1 0.02 3.754294 TGTxTGT COVERED NOVEL PCNX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412479.1 25 15.521673 KEEP 0 2 70 76 2686 CC 1 1 0 + 8 60 280 0 0 19.087157 111 60 3845 290 ENST00000304743.2 0.067227 1 SIPA1L1 26037 __UNKNOWN__ __UNKNOWN__ 14 72055468 72055468 __UNKNOWN__ Silent SNP A A C rs1859643 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:72055468A>C ENST00000358550.2 + 2 1829 c.879A>C c.(877-879)tcA>tcC p.S293S SIPA1L1_ENST00000381232.3_Silent_p.S293S|SIPA1L1_ENST00000555818.1_Silent_p.S293S NM_001284246.1 NP_001271175.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 293 NA actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167) cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) GTPase activator activity (GO:0005096) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CTGGAGACTCATCTATTTTTC 0.433 NA NA A||| 4424 0.883387 0.9622 0.8473 5008 , , NA 20430 0.9355 NA 0.7614 False NA ,,, NA NA NA 2504 0.8742 NA NA NA NA 0 A 4071,335 775.6+/-414.1 1885,301,17 66 71 69 879 -9.2 0.7 14 dbSNP_92 69 6490,2110 710.7+/-405.8 2438,1614,248 no coding-synonymous SIPA1L1 NM_015556.1 4323,1915,265 CC,CA,AA 24.5349,7.6033,18.799 293/1805 72055468 10561,2445 2203 4300 6503 SO:0001819 synonymous_variant AB007900 CCDS9807.1, CCDS61490.1, CCDS61491.1 14q24.1 2003-12-11 ENSG00000197555 26037 20284 protein-coding gene gene with protein product NA NA 9858596 Standard NM_015556 XM_005267514 NA Approved KIAA0440, E6TP1 uc001xmr.1 O43166 ENST00000358550.2:c.879A>C chr14.hg19:g.72055468A>C NA J3KP19|O95321|Q9UDU4|Q9UNU4 hg19 0.02 3.239633 CTCxTCT COVERED NOVEL SIPA1L1-001 NOVEL NAGNAG_splice_site|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000412807.1 8 27.376703 KEEP 0 0 0 91 2710 AA 1 1 0 + 5 60 164 0 0 9.609208 124 60 3727 302 ENST00000358550.2 0.03876 1 ACOT1 641371 __UNKNOWN__ __UNKNOWN__ 14 74004547 74004547 __UNKNOWN__ Missense_Mutation SNP C C T rs199627073 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:74004547C>T ENST00000311148.4 + 1 730 c.422C>T c.(421-423)gCg>gTg p.A141V HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Missense_Mutation_p.A141V|HEATR4_ENST00000560393.1_Intron NM_001037161.1 NP_001032238.1 Q86TX2 ACOT1_HUMAN acyl-CoA thioesterase 1 141 NA acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038) cytosol (GO:0005829) acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290) endometrium(1)|large_intestine(1)|lung(2) 4 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) CCGGTGCGCGCGGGCCGGGTG 0.716 NA NA -||| 30 0.00599042 0.0182 0 5008 , , NA 5594 0 NA 0.002 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 T VAL/ALA,, 18,2790 0,18,1386 3 4 4 422,, -1 0.8 14 4 23,5073 0,23,2525 no missense,intron,intron HEATR4,ACOT1 NM_001037161.1,NM_001220484.1,NM_203309.2 64,, 0,41,3911 TT,TC,CC 0.4513,0.641,0.5187 ,, 141/422,, 74004547 41,7863 1404 2548 3952 SO:0001583 missense DQ082754 CCDS32117.1 14q24.3 2013-09-20 ENSG00000184227 ENSG00000184227 641371 Acyl CoA thioesterases 33128 protein-coding gene gene with protein product 614313 NA 16103133, 16940157 Standard NM_001037161 NM_001037161 NA Approved ACH2, CTE-1, LACH2 Q86TX2 OTTHUMG00000171607 ENST00000311148.4:c.422C>T chr14.hg19:g.74004547C>T ENSP00000311224:p.Ala141Val NA A1L173|Q3I5F9 hg19 CCDS32117.1 0.02 2.720432 GCGxGGG COVERED . . . . . . . . . . - 11.02 1.517457 0.27123 0.00641 0.004513 ENSG00000184227 ENST00000311148;ENST00000557556 T;T 0.36520 1.25;1.25 3.93 -1.05 0.10036 Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1); 0.363391 0.29260 N 0.012677 T 0.16811 0.0404 L 0.40543 1.245 0.20403 N 0.999903 B;B 0.06786 0.001;0.001 B;B 0.04013 0.001;0.001 T 0.12243 -1.0555 10 0.52906 T 0.07 -0.5316 5.532 0.16990 0.5732:0.218:0.0:0.2088 . 141;141 E9KL42;Q86TX2 .;ACOT1_HUMAN V 141 ENSP00000311224:A141V;ENSP00000451764:A141V ENSP00000311224:A141V A + 2 0 ACOT1 73074300 0.624000 0.27102 0.844000 0.33320 0.105000 0.19272 1.914000 0.39966 -0.014000 0.14175 -1.140000 0.01884 GCG NOVEL ACOT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414432.1 7 13.480061 KEEP 1 4 114 85 2971 CC 1 1 0 + 14 60 416 0 0 28.402176 129 60 4481 373 ENST00000311148.4 0.097902 1 FAM161B 145483 __UNKNOWN__ __UNKNOWN__ 14 74400814 74400814 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:74400814T>C ENST00000286544.3 - 0 2476 RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000534936.1_3'UTR NM_152445.2 NP_689658.2 Q96MY7 F161B_HUMAN family with sequence similarity 161, member B NA NA breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 cgtgagccactgcgcctggcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AA356453 CCDS9822.1, CCDS9822.2 14q24.2 2008-06-05 2008-06-05 2008-06-05 ENSG00000156050 145483 19854 protein-coding gene gene with protein product NA chromosome 14 open reading frame 44 C14orf44 NA Standard NM_152445 NM_152445 NA Approved FLJ31697 uc001xpd.3 Q96MY7 ENST00000286544.3:c.*145A>G chr14.hg19:g.74400814T>C NA B7Z882|J3KNA2 hg19 CCDS9822.2 0.02 5.923784 CACxGCG COVERED NOVEL FAM161B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000412612.1 29 29.182551 KEEP 0 0 0 97 2952 TT 1 1 0 - 7 60 237 0 0 14.890356 137 60 4155 353 ENST00000286544.3 0.048611 1 COQ6 51004 __UNKNOWN__ __UNKNOWN__ 14 74423018 74423018 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:74423018A>G ENST00000554920.1 + 4 506 COQ6_ENST00000555552.1_Intron|COQ6_ENST00000394026.4_Intron|COQ6_ENST00000238709.4_Intron|COQ6_ENST00000334571.2_Intron Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase NA NA small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744) cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739) flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) gcgacagagcaagactccgtc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF132944 CCDS9823.1, CCDS9824.1, CCDS9824.2 14q24.1 2013-05-01 2013-05-01 ENSG00000119723 ENSG00000119723 51004 20233 protein-coding gene gene with protein product 614647 coenzyme Q6 homolog (yeast), coenzyme Q6 homolog, monooxygenase (yeast), coenzyme Q6 homolog, monooxygenase (S. cerevisiae) NA 21540551 Standard NM_182476 NA Approved CGI-10 uc001xph.3 Q9Y2Z9 OTTHUMG00000171260 ENST00000554920.1:c.481+387A>G chr14.hg19:g.74423018A>G NA B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2 hg19 0.02 3.745845 AGCxAGA COVERED NOVEL COQ6-019 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412620.1 29 12.804855 KEEP 2 2 70 67 2019 AA 1 1 0 + 5 60 165 2 0 10.103199 103 60 3091 299 ENST00000554920.1 0.046296 1 AHSA1 10598 __UNKNOWN__ __UNKNOWN__ 14 77935330 77935330 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:77935330T>C ENST00000555457.1 + 4 247 AHSA1_ENST00000216479.3_Intron O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) NA NA positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062) ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087) endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) ggattacaggtgtgagccacc 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ243310 CCDS9863.1 14q 2008-02-05 2003-04-04 2003-04-11 ENSG00000100591 10598 1189 protein-coding gene gene with protein product 608466 chromosome 14 open reading frame 3 C14orf3 NA Standard NM_012111 NM_012111 NA Approved p38 uc001xtw.3 O95433 ENST00000555457.1:c.248-90T>C chr14.hg19:g.77935330T>C NA B2R9L2|B4DUR9|Q96IL6|Q9P060 hg19 0.02 3.950418 AGGxGTG COVERED NOVEL AHSA1-009 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000414024.1 21 8.588622 KEEP 0 2 67 52 1530 TT 1 0.999998 0 + 5 60 174 1 0 10.977961 104 60 3109 244 ENST00000555457.1 0.045872 0.999998 DKFZP434O1614 0 __UNKNOWN__ __UNKNOWN__ 14 96742007 96742007 __UNKNOWN__ 3'UTR SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:96742007C>A ENST00000554299.1 - 0 1053 NA NA NA ATTTCCAAACCAAAGTTCCAC 0.562 NA NA OREG0022907 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA NA ENST00000554299.1:c.*329G>T chr14.hg19:g.96742007C>A 1323 hg19 0.02 1.347399 AACxAAA COVERED NOVEL DKFZP434O1614-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000413303.1 1 11.806509 KEEP 0 2 50 57 2004 CC 1 0.99993 0 - 12 60 363 0 0 26.384192 83 60 2938 216 ENST00000554299.1 0.126316 0.99993 ADSSL1 122622 __UNKNOWN__ __UNKNOWN__ 14 105204603 105204603 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:105204603A>G ENST00000330877.2 + 3 380 ADSSL1_ENST00000332972.5_Intron NM_152328.3 NP_689541.1 adenylosuccinate synthase like 1 NA NA central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) ccaaagtgctaggattacagg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095921 CCDS9990.1, CCDS9991.1 14q32.33 2010-08-05 ENSG00000185100 ENSG00000185100 122622 20093 protein-coding gene gene with protein product 612498 NA Standard NM_199165 NA Approved FLJ38602 uc001ype.3 Q8N142 ENST00000330877.2:c.296-110A>G chr14.hg19:g.105204603A>G NA hg19 CCDS9990.1 0.02 -0.377125 GCTxGGA COVERED NOVEL ADSSL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410529.1 6 2.642077 KEEP 1 1 35 21 622 AA 0.999869 0.90895 0 + 3 60 99 0 1 6.84962 33 60 964 84 ENST00000330877.2 0.083333 0.909069 GPR132 29933 __UNKNOWN__ __UNKNOWN__ 14 105515873 105515873 __UNKNOWN__ 3'UTR SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:105515873G>T ENST00000392585.2 - 0 2747 GPR132_ENST00000329797.3_3'UTR NM_001278695.1 NP_001265624.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 NA NA G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) gtgctgggatgacaggcgtga 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF083955 CCDS9997.1, CCDS61567.1 14q32.3 2012-08-21 ENSG00000183484 ENSG00000183484 29933 GPCR / Class A : Orphans 17482 protein-coding gene gene with protein product G2 accumulation 606167 NA 12086852 Standard NM_013345 NM_013345 NA Approved G2A uc001yqd.3 Q9UNW8 OTTHUMG00000140173 ENST00000392585.2:c.*1458C>A chr14.hg19:g.105515873G>T NA A8K7X7|B4E144|Q9BSU2 hg19 0.02 2.850561 GATxACA COVERED NOVEL GPR132-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409279.1 26 14.014601 KEEP 0 2 64 69 2373 GG 1 1 0 - 6 60 174 0 0 9.875225 117 60 4042 285 ENST00000392585.2 0.04878 1 BRF1 2972 __UNKNOWN__ __UNKNOWN__ 14 105772915 105772915 __UNKNOWN__ 5'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:105772915T>C ENST00000546474.1 - 0 9011 BRF1_ENST00000440513.3_Intron|PACS2_ENST00000430725.2_Intron|BRF1_ENST00000327359.3_Intron NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit NA NA gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304) nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126) zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) gctgggattataggcatgagc 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U28838 CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1 14q32.33 2014-04-02 2013-05-29 2001-12-07 ENSG00000185024 ENSG00000185024 2972 General transcription factors 11551 protein-coding gene gene with protein product 604902 TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2, BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) TAF3B2, TAF3C, GTF3B NA 7624363, 8943358 Standard NM_001519 NM_145685 NA Approved TFIIIB90, BRF, hBRF uc001yqp.2 Q92994 OTTHUMG00000029884 ENST00000546474.1:c.-5949A>G chr14.hg19:g.105772915T>C NA B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8 hg19 CCDS10001.1 0.02 -0.42093 TTAxAGG COVERED NOVEL BRF1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074548.4 13 9.024955 KEEP 0 0 0 30 874 TT 0.999997 0.948399 0 - 3 60 107 0 0 7.317088 43 60 1214 113 ENST00000546474.1 0.065217 0.948402 IGHG3 3502 __UNKNOWN__ __UNKNOWN__ 14 106235611 106235611 __UNKNOWN__ RNA SNP A A T rs1051112 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:106235611A>T ENST00000390551.2 - 0 1095 P01860 IGHG3_HUMAN immunoglobulin heavy constant gamma 3 (G3m marker) NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) antigen binding (GO:0003823) NA CTTCTGCGTGAAGCGGTTGTG 0.627 NA NA .||| 2470 0.493211 0.2897 0.6124 5008 , , NA 13710 0.5327 NA 0.4881 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 106 112 110 NA NA 14 NA 106235611 2024 4182 6206 M12958 14q32.33 2012-10-02 ENSG00000211897 ENSG00000211897 3502 Immunoglobulins / IGH locus 5527 other immunoglobulin gene 147120 NA 6808505 Standard NG_001019 NG_001019 NA Approved P01860 OTTHUMG00000152539 ENST00000390551.2: chr14.hg19:g.106235611A>T NA A2NU35 hg19 0.02 1.374875 GTGxAGC COVERED NOVEL IGHG3-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene NA IG_C_gene OTTHUMT00000326654.1 0 5.548556 KEEP 2 1 30 29 855 AA 0.999997 0.986151 0 - 5 21 151 0 0 10.056525 54 60 1522 124 ENST00000390551.2 0.084746 0.986153 IGHG3 3502 __UNKNOWN__ __UNKNOWN__ 14 106235614 106235614 __UNKNOWN__ RNA SNP C C T rs4042056 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:106235614C>T ENST00000390551.2 - 0 1092 P01860 IGHG3_HUMAN immunoglobulin heavy constant gamma 3 (G3m marker) NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) antigen binding (GO:0003823) NA CTGCGTGAAGCGGTTGTGCAG 0.632 NA NA .||| 740 0.147764 0.1558 0.1124 5008 , , NA 13666 0.1498 NA 0.1004 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 107 115 112 NA NA 14 NA 106235614 2029 4184 6213 M12958 14q32.33 2012-10-02 ENSG00000211897 ENSG00000211897 3502 Immunoglobulins / IGH locus 5527 other immunoglobulin gene 147120 NA 6808505 Standard NG_001019 NG_001019 NA Approved P01860 OTTHUMG00000152539 ENST00000390551.2: chr14.hg19:g.106235614C>T NA A2NU35 hg19 0.02 1.482386 AAGxGGT COVERED NOVEL IGHG3-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene NA IG_C_gene OTTHUMT00000326654.1 0 5.251066 KEEP 2 1 30 28 950 CC 0.999997 0.984158 0 - 5 21 153 0 0 10.294338 53 60 1722 122 ENST00000390551.2 0.086207 0.984161 IGHV1-3 28473 __UNKNOWN__ __UNKNOWN__ 14 106471689 106471689 __UNKNOWN__ RNA SNP A A C rs56372013 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:106471689A>C ENST00000390595.2 - 0 34 immunoglobulin heavy variable 1-3 NA NA NA CATGGTGAGGAGTTGTGCTCT 0.517 NA NA .||| 1381 0.275759 0.0802 0.3156 5008 , , NA 9559 0.3006 NA 0.4274 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 A 484,3262 27,430,1416 49 49 49 -0.4 0.2 14 dbSNP_129 49 3435,4751 742,1951,1400 no intergenic 769,2381,2816 CC,CA,AA 41.9619,12.9204,32.8445 106471689 3919,8013 1873 4093 5966 X62109 14q32.33 2012-02-08 ENSG00000211935 ENSG00000211935 28473 Immunoglobulins / IGH locus 5552 other immunoglobulin gene NA NA Standard NG_001019 NG_001019 NA Approved VI-3B OTTHUMG00000152323 ENST00000390595.2: chr14.hg19:g.106471689A>C NA hg19 0.02 -0.306542 AGGxGTT COVERED NOVEL IGHV1-3-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325885.1 1 6.310318 KEEP 0 0 0 21 631 AA 0.999869 0.800141 0 - 3 57 101 0 0 7.089249 32 60 939 79 ENST00000390595.2 0.085714 0.800245 IGHV4-31 28396 __UNKNOWN__ __UNKNOWN__ 14 106805409 106805409 __UNKNOWN__ RNA SNP C C T rs200277374|rs572729572 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr14:106805409C>T ENST00000438142.2 - 0 225 immunoglobulin heavy variable 4-31 NA NA NA CAGTAGTAACCACCACTGCTG 0.597 NA NA N||| 447 0.0892572 0.2829 0.0317 5008 , , NA 9947 0.0198 NA 0.0159 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 92 137 123 NA NA 14 NA 106805409 1935 4127 6062 L10098 14q32.33 2012-02-08 ENSG00000231475 ENSG00000231475 28396 Immunoglobulins / IGH locus 5649 other immunoglobulin gene NA NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152097 ENST00000438142.2: chr14.hg19:g.106805409C>T NA hg19 0.02 3.838751 AACxACC COVERED NOVEL IGHV4-31-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325194.1 15 25.716365 KEEP 0 4 109 124 4360 CC 1 1 0 - 10 42 282 0 0 16.458821 161 60 5655 452 ENST00000438142.2 0.05848 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20444702 20444702 __UNKNOWN__ IGR SNP C C T rs201397924 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:20444702C>T NA NA RP11-173D3.1 (91496 upstream) : CHEK2P2 (43294 downstream) NA NA NA ATCTCGATCTCGTCCTCACCA 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.20444702C>T NA hg19 0.02 7.306172 TCTxGTC COVERED NOVEL 0 16 14.665606 KEEP 4 13 333 167 5495 CC 1 1 0 19 60 504 0 0 30.610788 228 60 7452 630 0.076923 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20453914 20453914 __UNKNOWN__ IGR SNP A A G rs7167903 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:20453914A>G NA NA RP11-173D3.1 (100708 upstream) : CHEK2P2 (34082 downstream) NA NA NA AGAGGGACACACACCCAGCTG 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.20453914A>G NA hg19 0.02 1.871584 CACxCAC COVERED NOVEL 0 2 4.847915 KEEP 3 1 34 28 835 AA 0.999997 0.986151 0 6 40 194 0 0 13.988557 50 60 1446 114 0.107143 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20456743 20456743 __UNKNOWN__ IGR SNP G G A rs566357797 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:20456743G>A NA NA RP11-173D3.1 (103537 upstream) : CHEK2P2 (31253 downstream) NA NA NA TTTCACCAGCGCCTGGCTCAT 0.622 NA NA N||| 98 0.0195687 0.0061 0.0173 5008 , , NA 50178 0.005 NA 0.0547 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.20456743G>A NA hg19 0.02 6.118815 AGCxCCT COVERED NOVEL 0 3 3.481898 KEEP 4 11 310 121 4095 GG 1 1 0 35 60 1015 1 0 77.20531 174 60 6021 538 0.167464 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20462720 20462720 __UNKNOWN__ IGR SNP G G A rs28522508 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:20462720G>A NA NA RP11-173D3.1 (109514 upstream) : CHEK2P2 (25276 downstream) NA NA NA TGAAAGAAATGCATTCAGGGA 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.20462720G>A NA hg19 0.02 2.955824 AATxCAT COVERED NOVEL 0 4 5.464456 KEEP 1 6 152 72 2556 GG 1 0.999998 0 11 60 324 0 0 21.951166 103 70 3607 286 0.096491 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20466465 20466465 __UNKNOWN__ IGR SNP C C A rs28660626 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:20466465C>A NA NA RP11-173D3.1 (113259 upstream) : CHEK2P2 (21531 downstream) NA NA NA tctgaAAATACCAATTGTGGA 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.20466465C>A NA hg19 0.02 3.466781 ATAxCAA COVERED NOVEL 0 19 9.802186 KEEP 9 2 64 55 1938 CC 1 0.999981 0 16 60 503 0 0 38.621151 87 60 3084 265 0.15534 0.999981 HERC2P3 283755 __UNKNOWN__ __UNKNOWN__ 15 20613957 20613957 __UNKNOWN__ RNA SNP G G A rs559355855 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:20613957G>A ENST00000428453.1 - 0 4041 Q9BVR0 HRC23_HUMAN hect domain and RLD 2 pseudogene 3 NA NA metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GCTTGATAGCGTCACAGGGAG 0.393 NA NA G||| 341 0.0680911 0.1135 0.0764 5008 , , NA 56707 0.002 NA 0.0755 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF041081 15q11.2 2010-08-02 ENSG00000180229 ENSG00000180229 283755 4871 pseudogene pseudogene NA NA 9730612 Standard NG_008269 NR_036432 NA Approved D15F37S4, LOC283755 uc001ytg.3 Q9BVR0 OTTHUMG00000157175 ENST00000428453.1: chr15.hg19:g.20613957G>A NA hg19 0.02 8.144316 AGCxTCA COVERED NOVEL HERC2P3-014 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000347772.2 15 12.31829 KEEP 1 8 248 128 4439 GG 1 1 0 - 17 60 520 0 0 32.957823 240 60 8060 607 ENST00000428453.1 0.066148 1 HERC2 8924 __UNKNOWN__ __UNKNOWN__ 15 28566630 28566630 __UNKNOWN__ Intron SNP C C T rs7402161 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:28566630C>T ENST00000261609.7 - 2 78 HERC2_ENST00000563945.1_Intron NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 NA NA NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AACACATACGCTGAAGACCTA 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 7 10 9 NA NA 15 NA 28566630 1301 2261 3562 SO:0001627 intron_variant AF071172 CCDS10021.1 15q13 2012-02-23 2012-02-23 ENSG00000128731 ENSG00000128731 8924 4868 protein-coding gene gene with protein product 605837 hect domain and RLD 2 NA 9949213 Standard NM_004667 NM_004667 NA Approved jdf2, p528, D15F37S1 uc001zbj.4 O95714 OTTHUMG00000129251 ENST00000261609.7:c.31-20G>A chr15.hg19:g.28566630C>T NA hg19 CCDS10021.1 0.02 5.165038 ACGxTGA COVERED NOVEL HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251358.2 25 5.328746 KEEP 7 6 195 86 3072 CC 1 1 0 - 8 44 260 0 0 16.240212 143 60 5106 383 ENST00000261609.7 0.05298 1 RP11-143J24.1 0 __UNKNOWN__ __UNKNOWN__ 15 30337509 30337509 __UNKNOWN__ lincRNA SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:30337509G>C ENST00000561392.1 - 0 138 NA NA NA GTGGCGGTTAGGGTGGGAAGG 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000561392.1: chr15.hg19:g.30337509G>C NA hg19 0.02 1.291994 TTAxGGT COVERED NOVEL RP11-143J24.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000417288.1 1 5.277858 KEEP 0 2 55 37 1254 GG 1 0.999862 0 - 5 60 158 0 0 9.782474 86 60 2915 176 ENST00000561392.1 0.054945 0.999862 KLF13 51621 __UNKNOWN__ __UNKNOWN__ 15 31666463 31666463 __UNKNOWN__ 3'UTR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:31666463G>C ENST00000307145.3 + 0 3186 NM_015995.2 NP_057079.2 Q9Y2Y9 KLF13_HUMAN Kruppel-like factor 13 NA NA negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1) 2 all_lung(180;3.71e-11) all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171) GTGACTTCTAGGTAGACCGAT 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132599 CCDS10025.1 15q13.3 2013-01-08 ENSG00000169926 ENSG00000169926 51621 Kruppel-like transcription factors, Zinc fingers, C2H2-type 13672 protein-coding gene gene with protein product 605328 NA 10415854, 10023774 Standard NM_015995 NM_015995 NA Approved RFLAT-1, BTEB3, NSLP1, FKLF-2 uc001zfo.3 Q9Y2Y9 OTTHUMG00000172224 ENST00000307145.3:c.*1961G>C chr15.hg19:g.31666463G>C NA Q9Y356 hg19 CCDS10025.1 0.02 3.622362 CTAxGTA COVERED NOVEL KLF13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251381.1 2 22.396238 KEEP 0 1 36 87 3024 GG 1 1 0 + 6 60 198 0 0 11.860262 137 60 4802 327 ENST00000307145.3 0.041958 1 FMN1 342184 __UNKNOWN__ __UNKNOWN__ 15 33357262 33357262 __UNKNOWN__ Missense_Mutation SNP A A G rs2306277 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:33357262A>G ENST00000559047.1 - 3 2056 c.2057T>C c.(2056-2058)cTg>cCg p.L686P FMN1_ENST00000334528.9_Missense_Mutation_p.L463P|FMN1_ENST00000558197.1_Missense_Mutation_p.L463P|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_5'UTR Q68DA7 FMN1_HUMAN formin 1 686 Mediates interaction with alpha-catenin. {ECO:0000250}. NA L -> P (in dbSNP:rs2306277). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. actin nucleation (GO:0045010) actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) p.L463P(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CTGCTCAGTCAGGCTGTGGTC 0.458 NA NA G||| 2253 0.44988 0.4342 0.5634 5008 , , NA 16299 0.2054 NA 0.5646 False NA ,,, NA NA NA 2504 0.5245 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G PRO/LEU 1766,2068 396,974,547 147 142 143 1388 5.1 1 15 dbSNP_100 143 4721,3531 1352,2017,757 yes missense FMN1 NM_001103184.2 98 1748,2991,1304 GG,GA,AA 42.7896,46.0616,46.3263 benign 463/1197 33357262 6487,5599 1917 4126 6043 SO:0001583 missense AH002864 CCDS45209.1, CCDS61581.1, CCDS61582.1 15q13.3 2013-06-13 2005-01-20 2005-01-22 ENSG00000248905 ENSG00000248905 342184 3768 protein-coding gene gene with protein product limb deformity protein 136535 formin (limb deformity) LD, FMN NA 1673046 Standard NM_001103184 NM_001277313 NA Approved DKFZP686C2281, FLJ45135, MGC125288, MGC125289 uc031qrh.1 Q68DA7 OTTHUMG00000172201 ENST00000559047.1:c.2057T>C chr15.hg19:g.33357262A>G ENSP00000454047:p.Leu686Pro NA Q3B7I6|Q3ZAR4|Q6ZSY1 hg19 0.02 1.760355 GTCxGGC COVERED 960 0.43956043956043955 194 0.3943089430894309 212 0.585635359116022 127 0.22202797202797203 427 0.5633245382585752 G 2.387 -0.340750 0.05243 0.460616 0.572104 ENSG00000248905 ENST00000334528 T 0.31510 1.49 6.04 5.13 0.70059 . 0.052415 0.85682 N 0.000000 T 0.00012 0.0000 N 0.01009 -1.055 . . . B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.41610 -0.9499 9 0.06494 T 0.89 . 13.1464 0.59463 0.1287:0.0:0.8713:0.0 rs2306277;rs17235540;rs56901218;rs2306277 463;463 Q68DA7-3;Q68DA7-5 .;. P 463 ENSP00000333950:L463P ENSP00000333950:L463P L - 2 0 FMN1 31144554 1.000000 0.71417 0.999000 0.59377 0.474000 0.32979 6.540000 0.73861 0.916000 0.36871 -0.215000 0.12644 CTG NOVEL FMN1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417414.1 1 8.357442 KEEP 0 1 32 39 1171 AA 1 0.999487 0 - 5 60 171 0 0 11.285129 78 60 2311 162 ENST00000559047.1 0.060241 0.999487 RYR3 6263 __UNKNOWN__ __UNKNOWN__ 15 33920662 33920662 __UNKNOWN__ Intron SNP T T C rs35706688 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:33920662T>C ENST00000389232.4 + 21 2644 RYR3_ENST00000415757.3_Intron NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 NA NA calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACTTGCTCCTTTTCCTTTAGG 0.423 NA NA T||| 887 0.177117 0.149 0.2089 5008 , , NA 21270 0.0119 NA 0.3936 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 T 645,3133 51,543,1295 103 92 95 2.5 0 15 dbSNP_126 95 3221,5005 618,1985,1510 no intron RYR3 NM_001036.3 669,2528,2805 CC,CT,TT 39.1563,17.0725,32.2059 33920662 3866,8138 1889 4113 6002 SO:0001627 intron_variant CCDS45210.1, CCDS58351.1 15q14-q15 2013-01-10 ENSG00000198838 6263 Ion channels / Ryanodine receptors, EF-hand domain containing 10485 protein-coding gene gene with protein product 180903 NA 8276408 Standard NM_001036 NA Approved uc001zhi.3 Q15413 ENST00000389232.4:c.2575-10T>C chr15.hg19:g.33920662T>C NA O15175|Q15412 hg19 CCDS45210.1 0.02 1.868763 CCTxTTC COVERED NOVEL RYR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417514.1 5 18.950808 KEEP 0 0 0 63 1906 TT 1 0.999407 0 + 7 60 247 0 0 17.69525 74 60 2259 203 ENST00000389232.4 0.08642 0.999407 RYR3 6263 __UNKNOWN__ __UNKNOWN__ 15 34137200 34137200 __UNKNOWN__ Silent SNP T T G rs41279228 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:34137200T>G ENST00000389232.4 + 93 13504 c.13434T>G c.(13432-13434)cgT>cgG p.R4478R RYR3_ENST00000415757.3_Silent_p.R4473R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4478 NA calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAACCCTGCGTGCCCTGGCCA 0.498 NA NA G||| 551 0.110024 0.1097 0.1412 5008 , , NA 19803 0.0069 NA 0.2078 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 G 467,3611 28,411,1600 141 139 140 13434 2.3 1 15 dbSNP_127 140 1788,6612 176,1436,2588 no coding-synonymous RYR3 NM_001036.3 204,1847,4188 GG,GT,TT 21.2857,11.4517,18.0718 4478/4871 34137200 2255,10223 2039 4200 6239 SO:0001819 synonymous_variant CCDS45210.1, CCDS58351.1 15q14-q15 2013-01-10 ENSG00000198838 6263 Ion channels / Ryanodine receptors, EF-hand domain containing 10485 protein-coding gene gene with protein product 180903 NA 8276408 Standard NM_001036 NA Approved uc001zhi.3 Q15413 ENST00000389232.4:c.13434T>G chr15.hg19:g.34137200T>G NA O15175|Q15412 hg19 CCDS45210.1 0.02 -0.412236 GCGxGCC COVERED NOVEL RYR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417514.1 1 7.521194 KEEP 0 0 0 25 749 TT 0.999931 0.941676 0 + 3 60 98 0 0 6.389347 44 60 1328 105 ENST00000389232.4 0.06383 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 35043218 35043218 __UNKNOWN__ IGR SNP T T C rs2339643 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:35043218T>C NA NA CTD-2125J1.1 (95253 upstream) : GJD2 (14 downstream) NA NA NA CATCAAAAAGTGCAGACTCTT 0.303 NA NA T||| 1761 0.351637 0.1399 0.4222 5008 , , NA 17944 0.5933 NA 0.325 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr15.hg19:g.35043218T>C NA hg19 0.02 1.903947 AAGxGCA COVERED NOVEL 0 4 3.644732 KEEP 0 1 34 24 732 TT 0.999931 0.998924 0 4 60 145 0 0 9.605858 72 60 2111 152 0.052632 0.998993 C15orf41 84529 __UNKNOWN__ __UNKNOWN__ 15 36984409 36984409 __UNKNOWN__ Intron SNP T T C rs3743338 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:36984409T>C ENST00000569302.1 + 7 489 C15orf41_ENST00000567389.1_Intron|C15orf41_ENST00000338183.4_Intron|C15orf41_ENST00000562877.1_Intron|C15orf41_ENST00000437989.2_Intron|C15orf41_ENST00000566621.1_Intron Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 NA NA kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) AGGTGCGCAATTGACGAGCTT 0.393 NA NA T||| 2809 0.560903 0.416 0.7334 5008 , , NA 16753 0.621 NA 0.6064 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 0 T , 1733,2049 388,957,546 66 59 61 , 4.7 1 15 dbSNP_107 61 4942,3306 1487,1968,669 no intron,intron C15orf41 NM_001130010.1,NM_032499.4 , 1875,2925,1215 CC,CT,TT 40.0824,45.8223,44.5137 , , 36984409 6675,5355 1891 4124 6015 SO:0001627 intron_variant BC006254 CCDS45215.1, CCDS45216.1 15q14 2012-05-31 ENSG00000186073 ENSG00000186073 84529 26929 protein-coding gene gene with protein product 615626 NA Standard NM_032499 XM_005254719 NA Approved HH114, MGC11326, FLJ22851 uc001zje.4 Q9Y2V0 OTTHUMG00000172659 ENST00000569302.1:c.476+33T>C chr15.hg19:g.36984409T>C NA B2RD87 hg19 0.02 1.836063 CAAxTGA COVERED NOVEL C15orf41-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000419746.1 3 9.027779 KEEP 0 0 0 30 965 TT 0.999997 0.992091 0 + 4 60 142 0 0 9.6699 58 60 1785 128 ENST00000569302.1 0.064516 0.992094 RP11-122D10.1 0 __UNKNOWN__ __UNKNOWN__ 15 37173147 37173147 __UNKNOWN__ RNA SNP T T G rs12909623 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:37173147T>G ENST00000558089.1 - 0 488 NA NA NA AAATTTGCGGTGTTTCAGGAA 0.408 NA NA T||| 2004 0.40016 0.4168 0.2867 5008 , , NA 18047 0.372 NA 0.4781 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000558089.1: chr15.hg19:g.37173147T>G NA hg19 0.02 3.845205 CGGxGTT COVERED NOVEL RP11-122D10.1-002 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000417548.2 13 29.483033 KEEP 0 0 0 98 2916 TT 1 1 0 - 5 60 170 1 0 10.312123 118 60 3491 347 ENST00000558089.1 0.04065 1 LRRC57 255252 __UNKNOWN__ __UNKNOWN__ 15 42835329 42835329 __UNKNOWN__ 3'UTR SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:42835329T>A ENST00000323443.2 - 0 2039 LRRC57_ENST00000563454.1_3'UTR|LRRC57_ENST00000397130.3_3'UTR Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 NA NA extracellular vesicular exosome (GO:0070062) breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) ggcctcccaatgtgctgggat 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK094891 CCDS10089.1 15q15.1 2006-02-13 ENSG00000180979 ENSG00000180979 255252 26719 protein-coding gene gene with protein product NA NA Standard NM_153260 NM_153260 NA Approved FLJ36812 uc001zqc.3 Q8N9N7 OTTHUMG00000130679 ENST00000323443.2:c.*952A>T chr15.hg19:g.42835329T>A NA Q7Z2Z6|Q8N1T6 hg19 CCDS10089.1 0.02 1.365212 CAAxGTG COVERED NOVEL LRRC57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253174.1 17 14.458488 KEEP 0 1 31 59 1725 TT 1 0.999907 0 - 6 60 183 0 0 11.660275 82 60 2406 238 ENST00000323443.2 0.068182 0.999907 LRRC57 255252 __UNKNOWN__ __UNKNOWN__ 15 42835673 42835673 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:42835673T>C ENST00000323443.2 - 0 1695 LRRC57_ENST00000563454.1_3'UTR|LRRC57_ENST00000397130.3_3'UTR Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 NA NA extracellular vesicular exosome (GO:0070062) breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) gctgggattataggcatgagc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK094891 CCDS10089.1 15q15.1 2006-02-13 ENSG00000180979 ENSG00000180979 255252 26719 protein-coding gene gene with protein product NA NA Standard NM_153260 NM_153260 NA Approved FLJ36812 uc001zqc.3 Q8N9N7 OTTHUMG00000130679 ENST00000323443.2:c.*608A>G chr15.hg19:g.42835673T>C NA Q7Z2Z6|Q8N1T6 hg19 CCDS10089.1 0.02 -0.333209 TTAxAGG COVERED NOVEL LRRC57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253174.1 6 4.813754 KEEP 0 0 0 16 476 TT 0.997832 0.850137 0 - 3 60 105 0 0 7.411558 34 60 967 68 ENST00000323443.2 0.081081 0.851984 CASC4 113201 __UNKNOWN__ __UNKNOWN__ 15 44706308 44706308 __UNKNOWN__ 3'UTR SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:44706308C>A ENST00000345795.2 + 0 2117 CASC4_ENST00000360824.3_3'UTR|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000299957.6_3'UTR NM_177974.2 NP_816929.1 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) tgctggaattccaggcatgag 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF103804 CCDS10108.1, CCDS10109.1 15q15.1 2010-11-24 ENSG00000166734 ENSG00000166734 113201 24892 protein-coding gene gene with protein product NA NA 10497265 Standard NM_138423 NM_138423 NA Approved H63, DKFZp459F1927 uc001ztp.3 Q6P4E1 OTTHUMG00000131133 ENST00000345795.2:c.*704C>A chr15.hg19:g.44706308C>A NA B4DPZ6|G5E934|Q6UY45|Q96EM1 hg19 CCDS10109.1 0.02 4.497856 ATTxCAG COVERED NOVEL CASC4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253816.1 51 2.348364 KEEP 0 7 208 81 2827 CC 1 1 0 + 7 60 202 0 0 11.516443 132 60 4573 355 ENST00000345795.2 0.05036 1 CEP152 22995 __UNKNOWN__ __UNKNOWN__ 15 49030276 49030276 __UNKNOWN__ 3'UTR SNP A A G rs2169757 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:49030276A>G ENST00000380950.2 - 0 5490 NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa NA NA cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634) protein kinase binding (GO:0019901) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CCTTTGGAATATTAAGGCAAC 0.303 NA NA A||| 139 0.0277556 0.0507 0.0202 5008 , , NA 17053 0.001 NA 0.0447 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020719 CCDS42033.1, CCDS58361.1 15q21.1 2014-02-20 22995 29298 protein-coding gene gene with protein product asterless 613529 microcephaly, primary autosomal recessive 4 MCPH4 NA 14654843, 21131973 Standard NM_014985 NM_014985 NA Approved KIAA0912, SCKL5 uc001zwz.3 O94986 ENST00000380950.2:c.*170T>C chr15.hg19:g.49030276A>G NA E7ER66|Q17RV1|Q6NTA0 hg19 CCDS58361.1 0.02 1.871155 AATxTTA COVERED NOVEL CEP152-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417365.1 1 6.918343 KEEP 0 0 0 23 675 AA 0.999892 0.986047 0 - 5 60 170 0 0 12.031002 52 70 1518 121 ENST00000380950.2 0.087719 0.986153 GABPB1 2553 __UNKNOWN__ __UNKNOWN__ 15 50574552 50574552 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:50574552C>T ENST00000380877.3 - 9 1423 GABPB1_ENST00000543881.1_Intron|GABPB1_ENST00000220429.8_Intron NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 ggccaggagtccaagaccagc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13316 CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1 15q21.2 2013-01-10 2008-02-25 2008-02-25 ENSG00000104064 ENSG00000104064 2553 Ankyrin repeat domain containing 4074 protein-coding gene gene with protein product 600610 GA binding protein transcription factor, beta subunit 2 GABPB2 NA 7958862 Standard NM_016655 NA Approved E4TF1-47, GABPB uc001zyb.3 Q06547 OTTHUMG00000131642 ENST00000380877.3:c.1000-3571G>A chr15.hg19:g.50574552C>T NA A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0 hg19 CCDS10135.1 0.02 4.940221 AGTxCAA COVERED NOVEL GABPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254537.2 17 2.214344 KEEP 1 6 184 72 2462 CC 1 1 0 - 7 60 215 0 1 12.553726 144 60 4887 342 ENST00000380877.3 0.046358 1 TMOD2 29767 __UNKNOWN__ __UNKNOWN__ 15 52103868 52103868 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:52103868A>G ENST00000249700.4 + 0 4494 NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) NA NA learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426) tropomyosin binding (GO:0005523) cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) TCGTGTGTGTATGTGTGTGTG 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF177169 CCDS10144.1, CCDS45260.1 15q21.2 2008-05-14 ENSG00000128872 ENSG00000128872 29767 11872 protein-coding gene gene with protein product 602928 NA 10662549 Standard NM_014548 NA Approved NTMOD uc002abk.3 Q9NZR1 OTTHUMG00000131805 ENST00000249700.4:c.*3217A>G chr15.hg19:g.52103868A>G NA B4DEW6 hg19 CCDS10144.1 0.02 3.97438 TGTxTGT COVERED NOVEL TMOD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254742.2 25 7.686254 KEEP 0 2 73 51 1452 AA 1 0.999981 0 + 8 60 265 1 0 18.33294 89 60 2534 217 ENST00000249700.4 0.082474 0.999981 NEDD4 4734 __UNKNOWN__ __UNKNOWN__ 15 56130692 56130692 __UNKNOWN__ Intron SNP T T C rs62046645 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:56130692T>C ENST00000506154.1 - 18 3613 NEDD4_ENST00000338963.2_Intron|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000508342.1_Intron NM_001284339.1 NP_001271268.1 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase NA NA adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151) beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TTTTAACTGATCAAAATTCAC 0.328 NA NA T||| 389 0.0776757 0.059 0.0965 5008 , , NA 16641 0.0675 NA 0.1203 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 T , 290,4096 157.4+/-190.3 10,270,1913 75 75 75 , -0.6 0 15 dbSNP_129 75 967,7615 209.3+/-250.5 58,851,3382 no intron,intron NEDD4 NM_006154.2,NM_198400.2 , 68,1121,5295 CC,CT,TT 11.2678,6.6119,9.6931 , , 56130692 1257,11711 2193 4291 6484 SO:0001627 intron_variant D42055 CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1 15q 2012-02-23 2012-02-23 ENSG00000069869 ENSG00000069869 4734 7727 protein-coding gene gene with protein product receptor-potentiating factor 1 602278 neural precursor cell expressed, developmentally down-regulated 4 NA 9073511, 8649367 Standard NM_198400 XR_243101 NA Approved KIAA0093, MGC176705, NEDD4-1, RPF1 uc002adi.3 P46934 OTTHUMG00000132015 ENST00000506154.1:c.3336+14A>G chr15.hg19:g.56130692T>C NA A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89 hg19 0.02 1.926962 TGAxCAA COVERED NOVEL NEDD4-003 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359818.1 8 8.424587 KEEP 0 0 0 28 851 TT 0.999997 0.992923 0 - 4 60 141 0 0 9.513314 60 60 1787 134 ENST00000506154.1 0.0625 0.992926 TLN2 83660 __UNKNOWN__ __UNKNOWN__ 15 62929841 62929841 __UNKNOWN__ Intron SNP G G A rs11852700 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:62929841G>A ENST00000561311.1 + 3 194 RP11-625H11.1_ENST00000558940.1_3'UTR|RP11-625H11.1_ENST00000560347.1_3'UTR Q9Y4G6 TLN2_HUMAN talin 2 NA NA cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016) actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202) actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGATATACATGGAAGCGCCCT 0.488 NA NA G||| 2576 0.514377 0.5893 0.6254 5008 , , NA 20752 0.2778 NA 0.5755 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002318 CCDS32261.1 15q15-q21 2008-07-03 ENSG00000171914 ENSG00000171914 83660 15447 protein-coding gene gene with protein product 607349 NA 9205841, 11527381 Standard NM_015059 NA Approved KIAA0320, ILWEQ uc002alb.4 Q9Y4G6 OTTHUMG00000133679 ENST00000561311.1:c.-36-9633G>A chr15.hg19:g.62929841G>A NA A6NLB8 hg19 CCDS32261.1 0.02 -0.210535 CATxGAA COVERED NOVEL TLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257878.2 0 3.310536 KEEP 0 0 0 11 368 GG 0.993072 0.518544 0 + 3 60 92 0 0 6.706038 21 60 710 44 ENST00000561311.1 0.125 0.522161 USP3 9960 __UNKNOWN__ __UNKNOWN__ 15 63821307 63821307 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:63821307T>C ENST00000380324.3 + 2 220 USP3_ENST00000268049.7_5'UTR|USP3_ENST00000540797.1_Intron|USP3_ENST00000536001.1_Intron|USP3_ENST00000539772.1_Intron NM_006537.3 NP_006528.2 Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 NA NA DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511) nuclear chromatin (GO:0000790) histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) aagtgattcttctgcctcagc 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF073344 CCDS32265.1, CCDS58370.1 15q22.3 2008-04-11 2005-08-08 ENSG00000140455 9960 Ubiquitin-specific peptidases 12626 protein-coding gene gene with protein product 604728 ubiquitin specific protease 3 NA 12838346 Standard NM_006537 NA Approved uc002amf.4 Q9Y6I4 ENST00000380324.3:c.92-3539T>C chr15.hg19:g.63821307T>C NA B4DVU5|F5H1A6|Q8WVD0 hg19 CCDS32265.1 0.02 7.566722 TCTxCTG COVERED NOVEL USP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417773.1 36 14.968842 KEEP 1 7 244 135 4193 TT 1 1 0 + 9 60 308 1 0 18.84066 208 60 6380 536 ENST00000380324.3 0.041475 1 USP3 9960 __UNKNOWN__ __UNKNOWN__ 15 63821323 63821323 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:63821323A>G ENST00000380324.3 + 2 220 USP3_ENST00000268049.7_5'UTR|USP3_ENST00000540797.1_Intron|USP3_ENST00000536001.1_Intron|USP3_ENST00000539772.1_Intron NM_006537.3 NP_006528.2 Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 NA NA DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511) nuclear chromatin (GO:0000790) histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) tcagcctcccaagtagctggg 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF073344 CCDS32265.1, CCDS58370.1 15q22.3 2008-04-11 2005-08-08 ENSG00000140455 9960 Ubiquitin-specific peptidases 12626 protein-coding gene gene with protein product 604728 ubiquitin specific protease 3 NA 12838346 Standard NM_006537 NA Approved uc002amf.4 Q9Y6I4 ENST00000380324.3:c.92-3523A>G chr15.hg19:g.63821323A>G NA B4DVU5|F5H1A6|Q8WVD0 hg19 CCDS32265.1 0.02 6.911201 CCCxAGT COVERED NOVEL USP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417773.1 30 30.423304 KEEP 1 2 62 123 3493 AA 1 1 0 + 9 60 294 0 0 17.770601 191 60 5481 469 ENST00000380324.3 0.045 1 HERC1 8925 __UNKNOWN__ __UNKNOWN__ 15 63935149 63935149 __UNKNOWN__ Intron SNP A A G rs10519223|rs386784772 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:63935149A>G ENST00000443617.2 - 59 11521 NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 NA NA cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 tATAACTACAATATTACCTTT 0.408 NA NA A||| 1979 0.395168 0.5666 0.4481 5008 , , NA 18899 0.0774 NA 0.5318 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 A 2120,1646 607,906,370 50 47 48 -0.5 0 15 dbSNP_119 48 4432,3796 1177,2078,859 no intron HERC1 NM_003922.3 1784,2984,1229 GG,GA,AA 46.1351,43.7069,45.3727 63935149 6552,5442 1883 4114 5997 SO:0001627 intron_variant U50078 CCDS45277.1 15q22 2013-01-10 2012-02-23 ENSG00000103657 8925 WD repeat domain containing 4867 protein-coding gene gene with protein product 605109 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 NA 8861955, 9233772 Standard NM_003922 NM_003922 NA Approved p532, p619 uc002amp.3 Q15751 ENST00000443617.2:c.11433+6T>C chr15.hg19:g.63935149A>G NA Q8IW65 hg19 CCDS45277.1 0.02 1.874268 ACAxTAT COVERED NOVEL HERC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418523.1 1 18.956625 KEEP 0 0 0 63 1976 AA 1 0.996724 0 - 4 60 138 0 0 9.079441 65 60 2048 183 ENST00000443617.2 0.057971 0.996724 HERC1 8925 __UNKNOWN__ __UNKNOWN__ 15 63984772 63984772 __UNKNOWN__ Intron SNP T T C rs11630720 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:63984772T>C ENST00000443617.2 - 31 5762 RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 NA NA cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) p.?(2) NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCAGCTACAGTGAAGAGACAA 0.358 NA NA T||| 1992 0.397764 0.5741 0.451 5008 , , NA 18756 0.0704 NA 0.5368 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 2 Unknown(2) stomach(2) T 2134,1596 629,876,360 38 36 37 4.3 0.4 15 dbSNP_120 37 4476,3726 1206,2064,831 no intron HERC1 NM_003922.3 1835,2940,1191 CC,CT,TT 45.4279,42.7882,44.6027 63984772 6610,5322 1865 4101 5966 SO:0001627 intron_variant U50078 CCDS45277.1 15q22 2013-01-10 2012-02-23 ENSG00000103657 8925 WD repeat domain containing 4867 protein-coding gene gene with protein product 605109 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 NA 8861955, 9233772 Standard NM_003922 NM_003922 NA Approved p532, p619 uc002amp.3 Q15751 ENST00000443617.2:c.5675-7A>G chr15.hg19:g.63984772T>C NA Q8IW65 hg19 CCDS45277.1 0.02 1.833702 CAGxGAA COVERED NOVEL HERC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418523.1 5 13.839203 KEEP 0 0 0 46 1398 TT 1 0.999678 0 - 5 60 179 0 0 12.030496 80 60 2444 188 ENST00000443617.2 0.058824 0.999678 PIF1 80119 __UNKNOWN__ __UNKNOWN__ 15 65115724 65115724 __UNKNOWN__ Intron SNP G G A rs554919436 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:65115724G>A ENST00000268043.4 - 2 653 PIF1_ENST00000333425.6_Intron|PIF1_ENST00000559239.1_Intron PIF1 5'-to-3' DNA helicase NA NA kidney(1)|lung(1) 2 gattacaggcgtgagccacca 0.488 NA NA G||| 1 0.000199681 0 0.0014 5008 , , NA 15725 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026345 CCDS10195.2, CCDS66797.1 15q22.1 2013-05-13 2013-05-13 2006-11-24 ENSG00000140451 ENSG00000140451 80119 3.6.4.12 26220 protein-coding gene gene with protein product 610953 chromosome 15 open reading frame 20, PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) C15orf20 NA 10926538, 16522649 Standard NM_025049 NM_025049 NA Approved FLJ22692 uc002ant.2 Q9H611 OTTHUMG00000132974 ENST00000268043.4:c.558+252C>T chr15.hg19:g.65115724G>A NA hg19 CCDS10195.2 0.02 2.664188 GGCxTGA COVERED NOVEL PIF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256533.1 26 14.715189 KEEP 0 2 60 70 2365 GG 1 1 0 - 7 60 201 1 0 11.53246 127 60 4154 290 ENST00000268043.4 0.052239 1 SLC24A1 9187 __UNKNOWN__ __UNKNOWN__ 15 65947218 65947218 __UNKNOWN__ 3'UTR SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:65947218C>G ENST00000261892.6 + 0 4388 SLC24A1_ENST00000339868.6_3'UTR|SLC24A1_ENST00000537259.1_Intron NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 NA NA calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886) calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293) breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 ttacaggcgtcagccaccgcg 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF062922 CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1 15q22.31 2014-01-28 ENSG00000074621 ENSG00000074621 9187 Solute carriers 10975 protein-coding gene gene with protein product 603617 NA 9856482 Standard NM_004727 NM_004727 NA Approved NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D uc010ujf.2 O60721 OTTHUMG00000167960 ENST00000261892.6:c.*801C>G chr15.hg19:g.65947218C>G NA O43485|O75184|Q17RM9 hg19 CCDS45284.1 0.02 9.682952 CGTxAGC COVERED NOVEL SLC24A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397304.1 30 26.4265 KEEP 0 4 135 135 4749 CC 1 1 0 + 9 60 290 0 0 16.457883 250 60 8691 630 ENST00000261892.6 0.034749 1 GLCE 26035 __UNKNOWN__ __UNKNOWN__ 15 69564343 69564343 __UNKNOWN__ 3'UTR SNP C C T rs6545 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:69564343C>T ENST00000559420.2 + 0 4627 GLCE_ENST00000261858.2_3'UTR O94923 GLCE_HUMAN glucuronic acid epimerase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379) NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 TTACAGGATGCCCTTCTGAAG 0.348 NA NA C||| 2394 0.478035 0.0976 0.6859 5008 , , NA 19747 0.5794 NA 0.6441 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020643 CCDS32277.1 15q23 2007-01-30 2007-01-30 ENSG00000138604 26035 5.1.3.12 17855 protein-coding gene gene with protein product heparan sulfate epimerase 612134 D-glucuronyl C5-epimerase, UDP-glucuronic acid epimerase NA 15853773 Standard NM_015554 NM_015554 NA Approved KIAA0836, HSEPI uc002ary.1 O94923 ENST00000559420.2:c.*2760C>T chr15.hg19:g.69564343C>T NA Q6GUQ2 hg19 0.02 1.80656 ATGxCCT COVERED NOVEL GLCE-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000416668.3 4 5.417107 KEEP 0 0 0 18 617 CC 0.999859 0.976728 0 + 4 60 125 0 0 8.189142 51 60 1711 89 ENST00000559420.2 0.072727 0.976865 PAQR5 54852 __UNKNOWN__ __UNKNOWN__ 15 69698976 69698976 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:69698976A>G ENST00000340965.3 + 0 4476 RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_3'UTR NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V NA NA multicellular organismal development (GO:0007275)|oogenesis (GO:0048477) integral component of membrane (GO:0016021) receptor activity (GO:0004872)|steroid binding (GO:0005496) endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 gggaggctgaagtgggaggac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10232.1 15q22.31 2012-08-10 ENSG00000137819 ENSG00000137819 54852 29645 protein-coding gene gene with protein product membrane progestin receptor gamma 607781 NA 12574519 Standard NM_017705 NM_001104554 NA Approved FLJ20190, MPRG uc002arz.2 Q9NXK6 OTTHUMG00000133322 ENST00000340965.3:c.*2815A>G chr15.hg19:g.69698976A>G NA Q8IXU2 hg19 CCDS10232.1 0.02 5.96817 TGAxGTG COVERED NOVEL PAQR5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416671.1 39 9.266589 KEEP 0 4 135 78 2448 AA 1 1 0 + 6 60 215 2 0 13.0966 164 60 5093 376 ENST00000340965.3 0.035294 1 RPP25 54913 __UNKNOWN__ __UNKNOWN__ 15 75247156 75247156 __UNKNOWN__ 3'UTR SNP C C G rs34063670 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:75247156C>G ENST00000322177.5 - 0 2649 NM_017793.2 NP_060263.2 Q9BUL9 RPP25_HUMAN ribonuclease P/MRP 25kDa subunit NA NA tRNA processing (GO:0008033) nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526) breast(1)|lung(1) 2 TGTCCTTTCTCAGAGAGAGGG 0.537 NA NA C||| 1216 0.242812 0.1672 0.4669 5008 , , NA 19958 0.0873 NA 0.4632 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY034074 CCDS10274.1 15q24.2 2012-05-21 2007-06-26 ENSG00000178718 ENSG00000178718 54913 30361 protein-coding gene gene with protein product RNase P protein subunit p25 NA ribonuclease P 25kDa subunit NA 12003489 Standard NM_017793 NM_017793 NA Approved FLJ20374 uc002azj.1 Q9BUL9 OTTHUMG00000142822 ENST00000322177.5:c.*1169G>C chr15.hg19:g.75247156C>G NA D3DW70|Q9NX88 hg19 CCDS10274.1 0.02 1.789012 TCTxAGA COVERED NOVEL RPP25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286413.1 3 5.718137 KEEP 0 0 0 19 646 CC 0.99986 0.981818 0 - 4 60 132 0 0 8.88632 51 60 1697 96 ENST00000322177.5 0.072727 0.981955 CSPG4 1464 __UNKNOWN__ __UNKNOWN__ 15 75981976 75981976 __UNKNOWN__ Missense_Mutation SNP C C T rs200493777 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:75981976C>T ENST00000308508.5 - 3 1522 c.1430G>A c.(1429-1431)cGc>cAc p.R477H NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 477 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}. NA RH -> HY (in Ref. 1; CAA65529). {ECO:0000305}. activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) p.R477H(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CTCGCCATGGCGTGCCCCTCG 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) kidney(1) 67 61 63 NA NA 15 NA 75981976 2197 4291 6488 SO:0001583 missense X96753, AY359468 CCDS10284.1 15q24.2 2010-04-19 2007-02-16 ENSG00000173546 ENSG00000173546 1464 Proteoglycans / Cell surface : Other 2466 protein-coding gene gene with protein product melanoma-associated chondroitin sulfate proteoglycan 601172 chondroitin sulfate proteoglycan 4 (melanoma-associated) NA 8790396, 16407841 Standard NM_001897 NM_001897 NA Approved MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA uc002baw.3 Q6UVK1 OTTHUMG00000142836 ENST00000308508.5:c.1430G>A chr15.hg19:g.75981976C>T ENSP00000312506:p.Arg477His NA D3DW77|Q92675 hg19 CCDS10284.1 0.02 3.624801 TGGxGTG COVERED . . . . . . . . . . . 9.517 1.107225 0.20714 . . ENSG00000173546 ENST00000308508 T 0.19532 2.14 5.12 4.19 0.49359 . 0.096704 0.44483 D 0.000447 T 0.17746 0.0426 L 0.57536 1.79 0.27465 N 0.953023 P 0.35628 0.513 B 0.27380 0.079 T 0.14783 -1.0460 10 0.41790 T 0.15 . 9.3594 0.38186 0.0:0.8315:0.0:0.1685 . 477 Q6UVK1 CSPG4_HUMAN H 477 ENSP00000312506:R477H ENSP00000312506:R477H R - 2 0 CSPG4 73769031 0.038000 0.19896 0.145000 0.22337 0.035000 0.12851 1.407000 0.34657 2.375000 0.81037 0.555000 0.69702 CGC NOVEL CSPG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286472.1 0 9.130678 KEEP 1 3 81 59 2032 CC 1 1 0 - 12 54 309 0 0 17.465934 171 60 5852 368 ENST00000308508.5 0.065574 1 IREB2 3658 __UNKNOWN__ __UNKNOWN__ 15 78768871 78768871 __UNKNOWN__ Intron SNP C C G rs8043227 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:78768871C>G ENST00000258886.8 + 9 1344 IREB2_ENST00000560440.1_3'UTR NM_004136.2 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 NA NA aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739) 4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GTTGTGTCCTCAAACCCTAGT 0.348 NA NA C||| 2173 0.433906 0.2443 0.4553 5008 , , NA 20840 0.4643 NA 0.6014 False NA ,,, NA NA NA 2504 0.4714 NA NA NA NSCLC(200;764 2208 35157 49871 50830) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M58511 CCDS10302.1 15q25.1 2013-09-20 ENSG00000136381 ENSG00000136381 3658 6115 protein-coding gene gene with protein product 147582 NA 2172968 Standard NM_004136 NM_004136 NA Approved IRP2 uc002bdr.2 P48200 OTTHUMG00000143861 ENST00000258886.8:c.1195+170C>G chr15.hg19:g.78768871C>G NA A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17 hg19 CCDS10302.1 0.02 1.879985 CCTxAAA COVERED NOVEL IREB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000290109.3 2 8.126266 KEEP 0 0 0 27 933 CC 0.999988 0.986141 0 + 4 60 141 0 0 9.818696 50 60 1677 123 ENST00000258886.8 0.074074 0.986153 C15orf37 283687 __UNKNOWN__ __UNKNOWN__ 15 80216176 80216176 __UNKNOWN__ 3'UTR SNP G G T rs34149442 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:80216176G>T ENST00000560255.1 + 0 1064 C15ORF37_ENST00000542003.1_3'UTR chromosome 15 open reading frame 37 NA NA kidney(1)|lung(1)|stomach(1) 3 AAGACCTAGCGCAGAGAGGAC 0.711 NA NA G||| 204 0.0407348 0.0363 0.0461 5008 , , NA 12485 0.0089 NA 0.0934 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091107 15q25.1 2012-05-30 ENSG00000259642 ENSG00000259642 283687 27521 protein-coding gene gene with protein product NA NA Standard NM_175898 NR_028330 NA Approved FLJ33788 uc002bfb.2 Q8NBB2 OTTHUMG00000172079 ENST00000560255.1:c.*668G>T chr15.hg19:g.80216176G>T NA hg19 0.02 1.280685 AGCxCAG COVERED NOVEL C15orf37-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000416730.1 3 13.241156 KEEP 0 0 0 44 1451 GG 1 0.999317 0 + 5 60 150 0 0 9.24489 76 60 2426 142 ENST00000560255.1 0.061728 0.999317 KIAA1199 0 __UNKNOWN__ __UNKNOWN__ 15 81166116 81166116 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:81166116A>G ENST00000394685.3 + 2 403 KIAA1199_ENST00000220244.3_Intron|KIAA1199_ENST00000356249.5_Intron Q8WUJ3 CEMIP_HUMAN NA NA hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605) clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886) clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GTGTGTGTGCATGTGGCTCTG 0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000394685.3:c.-17+79A>G chr15.hg19:g.81166116A>G NA Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1 hg19 CCDS10315.1 0.02 5.587028 TGCxTGT COVERED NOVEL KIAA1199-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000291389.1 29 26.008906 KEEP 0 1 36 99 2989 AA 1 1 0 + 7 60 245 0 1 15.083976 168 60 5094 393 ENST00000394685.3 0.04 1 NMB 4828 __UNKNOWN__ __UNKNOWN__ 15 85198362 85198362 __UNKNOWN__ 3'UTR SNP G G T rs1107179 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:85198362G>T ENST00000360476.3 - 0 1004 NMB_ENST00000394588.3_3'UTR P08949 NMB_HUMAN neuromedin B NA NA arachidonic acid secretion (GO:0050482)|cell-cell signaling (GO:0007267)|glucose homeostasis (GO:0042593)|negative regulation of hormone secretion (GO:0046888)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hormone secretion (GO:0046887)|signal transduction (GO:0007165) extracellular region (GO:0005576)|neuron projection (GO:0043005) hormone activity (GO:0005179) endometrium(1) 1 all cancers(203;3.5e-06) ACCAGGCATTGTATGTAAAGA 0.488 NA NA OREG0023414 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 3639 0.726637 0.8812 0.6902 5008 , , NA 20386 0.8115 NA 0.5527 False NA ,,, NA NA NA 2504 0.635 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10332.1, CCDS42076.1 15q25.2-q25.3 2013-09-19 ENSG00000197696 ENSG00000197696 4828 7842 protein-coding gene gene with protein product 162340 NA 2458345 Standard NM_021077 NM_021077 NA Approved MGC2277, MGC3936, MGC17211 uc002bla.3 P08949 OTTHUMG00000148666 ENST00000360476.3:c.*243C>A chr15.hg19:g.85198362G>T 1235 Q96A06|Q96HH5 hg19 CCDS10332.1 0.02 1.329845 ATTxTAT COVERED NOVEL NMB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000308995.1 7 21.068663 KEEP 0 0 0 70 2487 GG 1 0.999948 0 - 7 60 220 0 0 14.430262 90 60 3115 232 ENST00000360476.3 0.072165 0.999948 SEC11A 23478 __UNKNOWN__ __UNKNOWN__ 15 85213891 85213891 __UNKNOWN__ Intron SNP T T G rs113664362 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:85213891T>G ENST00000455959.3 - 6 713 SEC11A_ENST00000268220.7_Intron|SEC11A_ENST00000558134.1_Intron|SEC11A_ENST00000560266.1_Intron NM_001271918.1 NP_001258847.1 P67812 SC11A_HUMAN SEC11 homolog A (S. cerevisiae) NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) serine-type peptidase activity (GO:0008236) ovary(1) 1 BRCA - Breast invasive adenocarcinoma(143;0.199) gattacaggcttgagccactg 0.463 NA NA g||| 308 0.0615016 0.121 0.0346 5008 , , NA 15497 0.002 NA 0.0577 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 A 114,1268 6,102,583 13 11 12 -2.5 0 15 dbSNP_132 12 202,2972 9,184,1394 no intron SEC11A NM_014300.2 15,286,1977 GG,GT,TT 6.3642,8.2489,6.9359 85213891 316,4240 691 1587 2278 SO:0001627 intron_variant AF061737 CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1 15q25.2 2006-11-07 2006-11-07 2006-11-07 ENSG00000140612 23478 17718 protein-coding gene gene with protein product NA SEC11-like 1 (S. cerevisiae) SEC11L1 NA Standard NM_014300 NM_001271919 NA Approved SPC18, sid2895, SPCS4A uc031qtg.1 P67812 ENST00000455959.3:c.411+64A>C chr15.hg19:g.85213891T>G NA B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8 hg19 0.02 1.733917 GGCxTGA COVERED NOVEL SEC11A-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418783.1 21 10.866109 KEEP 1 1 37 49 1514 TT 1 0.999835 0 - 5 60 173 2 0 11.566623 75 60 2351 195 ENST00000455959.3 0.0625 0.999835 CRTC3 64784 __UNKNOWN__ __UNKNOWN__ 15 91185291 91185291 __UNKNOWN__ Silent SNP C C T rs71407320 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:91185291C>T ENST00000268184.6 + 15 1783 c.1779C>T c.(1777-1779)gaC>gaT p.D593D CRTC3_ENST00000420329.2_Silent_p.D592D|RP11-387D10.2_ENST00000559531.1_RNA Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 593 NA energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|nucleus (GO:0005634) cAMP response element binding protein binding (GO:0008140) CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) TGAGCCTGGACGGACTCAACA 0.562 NA NA T MAML2 salivary gland mucoepidermoid C||| 159 0.0317492 0.0023 0.0274 5008 , , NA 19468 0 NA 0.0785 False NA ,,, NA NA NA 2504 0.0593 NA NA NA Dom yes 15 15q26.1 64784 CREB regulated transcription coactivator 3 E 0 C , 84,4312 70.9+/-108.8 3,78,2117 79 69 72 1776,1779 -9.9 0.4 15 dbSNP_130 72 695,7901 172.5+/-223.2 33,629,3636 no coding-synonymous,coding-synonymous CRTC3 NM_001042574.1,NM_022769.3 , 36,707,5753 TT,TC,CC 8.0852,1.9108,5.996 , 592/619,593/620 91185291 779,12213 2198 4298 6496 SO:0001819 synonymous_variant CCDS32331.1, CCDS45348.1 15q26.1 2005-11-24 ENSG00000140577 64784 26148 protein-coding gene gene with protein product 608986 NA 14536081, 14506290 Standard NM_022769 NM_022769 NA Approved FLJ21868 uc002bpp.4 Q6UUV7 ENST00000268184.6:c.1779C>T chr15.hg19:g.91185291C>T NA Q6DK61|Q6DK62|Q8NF38|Q9H6U2 hg19 CCDS32331.1 0.02 3.195397 GGAxGGA COVERED NOVEL CRTC3-001 KNOWN NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417716.2 2 20.116402 KEEP 0 0 0 67 2224 CC 1 0.999968 0 + 6 60 179 0 0 10.893476 95 60 3186 229 ENST00000268184.6 0.059406 0.999968 HDDC3 374659 __UNKNOWN__ __UNKNOWN__ 15 91474738 91474738 __UNKNOWN__ Intron SNP G G C rs1052535 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:91474738G>C ENST00000394272.3 - 4 438 UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000330334.3_3'UTR|HDDC3_ENST00000559898.1_3'UTR Q8N4P3 MESH1_HUMAN HD domain containing 3 NA NA guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872) NS(1)|ovary(1) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GTTCCTGATGGAATGAGCTGT 0.443 NA NA OREG0023475 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1698 0.339058 0.2481 0.3689 5008 , , NA 19750 0.5933 NA 0.2664 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 G , 1007,3389 375.6+/-321.7 107,793,1298 98 92 94 , 1 0 15 dbSNP_86 94 2413,6183 400.2+/-346.7 330,1753,2215 no intron,utr-3 UNC45A,HDDC3 NM_001039675.1,NM_198527.2 , 437,2546,3513 CC,CG,GG 28.0712,22.9072,26.3239 , , 91474738 3420,9572 2198 4298 6496 SO:0001627 intron_variant AK057584 CCDS10366.1, CCDS66866.1 15q26.1 2005-08-22 ENSG00000184508 ENSG00000184508 374659 30522 protein-coding gene gene with protein product NA NA 12477932 Standard NM_198527 NM_001286451 NA Approved MGC45386 uc002bqe.4 Q8N4P3 OTTHUMG00000141260 ENST00000394272.3:c.410-103C>G chr15.hg19:g.91474738G>C 1282 hg19 0.02 8.058206 ATGxAAT COVERED NOVEL HDDC3-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000280403.2 9 44.715988 KEEP 0 2 73 174 6008 GG 1 1 0 - 9 60 311 0 0 19.177143 206 60 7023 558 ENST00000394272.3 0.04186 1 C15orf32 145858 __UNKNOWN__ __UNKNOWN__ 15 93015278 93015278 __UNKNOWN__ 5'UTR SNP T T C rs1455775 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:93015278T>C ENST00000333334.2 + 0 395 C15orf32_ENST00000556865.1_5'UTR NM_153040.2 NP_694585.1 Q32M92 CO032_HUMAN chromosome 15 open reading frame 32 NA NA endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) ccccttcatgttctgtgagga 0.542 NA NA C||| 2959 0.590855 0.6641 0.6081 5008 , , NA 19588 0.5675 NA 0.6024 False NA ,,, NA NA NA 2504 0.4918 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS10373.1, CCDS73784.1 15q26.1 2014-09-10 ENSG00000183643 ENSG00000183643 145858 26549 protein-coding gene gene with protein product NA NA Standard NM_153040 NM_153040 NA Approved FLJ32831 uc002brc.1 Q32M92 OTTHUMG00000149844 ENST00000333334.2:c.-101T>C chr15.hg19:g.93015278T>C NA C5HTZ8|Q96M45 hg19 CCDS10373.1 0.02 -0.3596 ATGxTCT COVERED NOVEL C15orf32-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000313527.2 1 6.017608 KEEP 0 0 0 20 623 TT 0.999863 0.888753 0 + 3 60 106 0 0 7.372227 38 60 1162 86 ENST00000333334.2 0.073171 0.888875 MEF2A 4205 __UNKNOWN__ __UNKNOWN__ 15 100243672 100243672 __UNKNOWN__ Intron SNP G G A rs3730281 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:100243672G>A ENST00000557785.1 + 9 1207 MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000338042.6_Intron NM_001171894.1 NP_001165365.1 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A NA NA apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332) endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) TCTAACCAATGTTCCCTTTGT 0.323 NA NA G||| 1339 0.267372 0.3442 0.3343 5008 , , NA 17989 0.2897 NA 0.2207 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 G ,,,, 409,975 61,287,344 257 228 236 ,,,, 3 0.8 15 dbSNP_107 236 700,2482 77,546,968 no intron,intron,intron,intron,intron MEF2A NM_001130926.1,NM_001130927.1,NM_001130928.1,NM_001171894.1,NM_005587.2 ,,,, 138,833,1312 AA,AG,GG 21.9987,29.552,24.2882 ,,,, ,,,, 100243672 1109,3457 692 1591 2283 SO:0001627 intron_variant CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1 15q26 2008-02-05 2007-04-24 ENSG00000068305 4205 Myocyte enhancer factors 6993 protein-coding gene gene with protein product 600660 NA 1516833 Standard NM_005587 NA Approved RSRFC4, RSRFC9 uc002bvf.3 Q02078 ENST00000557785.1:c.859-3262G>A chr15.hg19:g.100243672G>A NA B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14 hg19 CCDS53978.1 0.02 1.350717 AATxTTC COVERED NOVEL MEF2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415985.1 6 10.833755 KEEP 0 0 0 36 1220 GG 0.999999 0.997897 0 + 5 60 142 0 0 8.840669 63 60 2185 143 ENST00000557785.1 0.073529 0.997898 SNRPA1 6627 __UNKNOWN__ __UNKNOWN__ 15 101827755 101827755 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr15:101827755C>T ENST00000254193.6 - 4 429 SNRPA1_ENST00000560856.1_Intron NM_003090.2 NP_003081.2 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ttccatggtgcatatgtgcca 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ130971 CCDS10391.1 15q26.3 2011-10-11 ENSG00000131876 ENSG00000131876 6627 11152 protein-coding gene gene with protein product 603521 NA 2928112 Standard NM_003090 NM_003090 NA Approved Lea1 uc002bww.3 P09661 OTTHUMG00000149871 ENST00000254193.6:c.356+105G>A chr15.hg19:g.101827755C>T NA B2R5I6|Q8TBD2 hg19 CCDS10391.1 0.02 -0.350888 GTGxATA COVERED NOVEL SNRPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313621.2 1 4.248142 KEEP 0 1 19 21 742 CC 0.999879 0.877601 0 - 4 60 114 0 0 7.712728 35 60 1208 88 ENST00000254193.6 0.102564 0.877708 HAGHL 84264 __UNKNOWN__ __UNKNOWN__ 16 779689 779689 __UNKNOWN__ 3'UTR SNP G G C rs1054788 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:779689G>C ENST00000389703.3 + 0 1321 HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000341413.4_3'UTR|HAGHL_ENST00000549114.1_3'UTR NM_032304.2 NP_115680.1 Q6PII5 HAGHL_HUMAN hydroxyacylglutathione hydrolase-like NA NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) lung(3) 3 Hepatocellular(780;0.00335) CGGGGCCTCCGAACTATGAAT 0.577 NA NA G||| 1132 0.226038 0.354 0.1354 5008 , , NA 17613 0.0119 NA 0.2336 False NA ,,, NA NA NA 2504 0.3303 NA NA NA Pancreas(46;538 1326 12403 32360) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK054841 CCDS32354.1 16p13.3 2008-02-05 2003-11-04 84264 14177 protein-coding gene gene with protein product NA hydroxyacyl glutathione hydrolase-like NA 12477932 Standard NM_032304 XM_005255629 NA Approved MGC2605 uc002cjo.1 Q6PII5 ENST00000389703.3:c.*233G>C chr16.hg19:g.779689G>C NA A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45 hg19 CCDS32354.1 0.02 -0.254395 TCCxAAC COVERED NOVEL HAGHL-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409608.1 0 4.213332 KEEP 0 0 0 14 472 GG 0.995343 0.66541 0 + 11 60 366 0 0 33.488838 18 60 597 51 ENST00000389703.3 0.37931 0.668523 HN1L 90861 __UNKNOWN__ __UNKNOWN__ 16 1730470 1730470 __UNKNOWN__ 5'UTR SNP A A G rs7200097 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:1730470A>G ENST00000382710.4 + 0 133 HN1L_ENST00000562684.1_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000569256.1_Intron|HN1L_ENST00000248098.3_Intron|HN1L_ENST00000382711.5_Intron|HN1L_ENST00000561516.1_Intron Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 9 GATGGTGAGGAAGGAAAGCCG 0.522 NA NA A||| 528 0.105431 0.1755 0.049 5008 , , NA 18545 0.1042 NA 0.0726 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK023154 CCDS10441.1 16p13.3 2006-12-13 2006-12-13 2006-12-13 ENSG00000206053 ENSG00000206053 90861 14137 protein-coding gene gene with protein product NA chromosome 16 open reading frame 34 C16orf34 NA 15094197 Standard NM_144570 NM_144570 NA Approved FLJ13092, L11, KIAA1426 uc002cmg.3 Q9H910 OTTHUMG00000047859 ENST00000382710.4:c.-22A>G chr16.hg19:g.1730470A>G NA B1AJY2|Q6EIC7 hg19 0.02 1.875074 AGGxAGG COVERED NOVEL HN1L-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000432999.1 3 15.646666 KEEP 0 0 0 52 1618 AA 1 0.996724 0 + 4 60 133 0 0 8.557728 66 60 1974 170 ENST00000382710.4 0.057143 0.996724 MGRN1 23295 __UNKNOWN__ __UNKNOWN__ 16 4722322 4722322 __UNKNOWN__ Intron SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:4722322T>A ENST00000262370.7 + 9 966 MGRN1_ENST00000588994.1_Intron|MGRN1_ENST00000399577.5_Intron|MGRN1_ENST00000586183.1_Intron|MGRN1_ENST00000588015.1_Intron|MGRN1_ENST00000415496.1_Intron NM_015246.3 NP_056061.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase NA NA endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209) cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 tgctgggatttcaggcctgag 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011116 CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1 16p13 2012-02-23 2012-02-23 23295 RING-type (C3HC4) zinc fingers 20254 protein-coding gene gene with protein product 607559 mahogunin, ring finger 1 NA 9628581 Standard NM_015246 NA Approved KIAA0544, RNF156 uc002cxa.3 O60291 ENST00000262370.7:c.795+862T>A chr16.hg19:g.4722322T>A NA A4URL3|A4URL4|Q86W76 hg19 CCDS42115.1 0.02 1.458864 ATTxCAG COVERED NOVEL MGRN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000432059.2 7 3.575784 KEEP 0 2 63 34 1002 TT 0.999999 0.997552 0 + 5 60 143 1 0 8.9454 63 60 1857 139 ENST00000262370.7 0.073529 0.997553 CARHSP1 23589 __UNKNOWN__ __UNKNOWN__ 16 8952305 8952305 __UNKNOWN__ Silent SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:8952305G>A ENST00000396593.2 - 3 542 c.183C>T c.(181-183)ccC>ccT p.P61P CARHSP1_ENST00000311052.5_Silent_p.P61P|CARHSP1_ENST00000562843.1_Silent_p.P61P|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567554.1_Silent_p.P61P|CARHSP1_ENST00000561530.1_Silent_p.P61P NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3 NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2 Q9Y2V2 CHSP1_HUMAN calcium regulated heat stable protein 1, 24kDa 61 NA intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355) cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186) DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902) endometrium(2)|lung(1) 3 CTTTGTAGACGGGGCCCTGTG 0.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 56 62 60 NA NA 16 NA 8952305 2197 4300 6497 SO:0001819 synonymous_variant AF115345 CCDS10537.1 16p13.2 2008-02-05 2002-08-29 ENSG00000153048 ENSG00000153048 23589 17150 protein-coding gene gene with protein product NA calcium regulated heat stable protein 1 (24kD) NA 9712905 Standard NM_014316 NM_014316 NA Approved CRHSP-24, CSDC1 uc031quz.1 Q9Y2V2 OTTHUMG00000129695 ENST00000396593.2:c.183C>T chr16.hg19:g.8952305G>A NA B2R4C3|D3DUF5|Q2YDX5|Q9BQ53 hg19 CCDS10537.1 0.02 3.027408 GACxGGG COVERED NOVEL CARHSP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251902.1 5 22.872998 KEEP 0 0 0 76 2588 GG 1 0.999993 0 - 7 60 204 0 0 12.477739 102 60 3440 264 ENST00000396593.2 0.06422 0.999993 TNP2 7142 __UNKNOWN__ __UNKNOWN__ 16 11362729 11362729 __UNKNOWN__ Missense_Mutation SNP G G A rs11640138 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:11362729G>A ENST00000312693.3 - 1 460 c.391C>T c.(391-393)Cgg>Tgg p.R131W RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) 131 NA R -> W (in dbSNP:rs11640138). acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) nucleosome (GO:0000786)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 CCTGAGCTCCGCGTCTTGGTT 0.557 NA NA G||| 1669 0.333267 0.264 0.3487 5008 , , NA 20710 0.2401 NA 0.5358 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 1 Whole gene deletion(1) haematopoietic_and_lymphoid_tissue(1) G TRP/ARG 1080,2884 138,804,1040 44 45 45 391 1.7 0.3 16 dbSNP_120 45 4437,3875 1214,2009,933 yes missense TNP2 NM_005425.4 101 1352,2813,1973 AA,AG,GG 46.6193,27.2452,44.9413 probably-damaging 131/139 11362729 5517,6759 1982 4156 6138 SO:0001583 missense CCDS45410.1 16p13.13 2008-08-01 ENSG00000178279 7142 11952 protein-coding gene gene with protein product 190232 NA 1395729, 2250010 Standard NM_005425 NM_005425 NA Approved TP2 uc002das.3 Q05952 ENST00000312693.3:c.391C>T chr16.hg19:g.11362729G>A ENSP00000325738:p.Arg131Trp NA Q9NZB0 hg19 CCDS45410.1 0.02 3.186672 TCCxCGT COVERED 824 0.3772893772893773 125 0.2540650406504065 143 0.39502762430939226 143 0.25 413 0.5448548812664907 G 9.951 1.220264 0.22457 0.272452 0.533807 ENSG00000178279 ENST00000312693 T 0.54479 0.57 3.69 1.74 0.24563 . 0.265469 0.20223 N 0.096660 T 0.00012 0.0000 L 0.35854 1.095 0.49687 P 1.8200000000001548E-4 P 0.46912 0.886 B 0.37015 0.239 T 0.48570 -0.9024 9 0.52906 T 0.07 -5.3047 5.9656 0.19322 0.2364:0.0:0.7636:0.0 rs11640138;rs17807085;rs52838377;rs59366167;rs11640138 131 Q05952 STP2_HUMAN W 131 ENSP00000325738:R131W ENSP00000325738:R131W R - 1 2 TNP2 11270230 0.995000 0.38212 0.270000 0.24601 0.008000 0.06430 2.741000 0.47426 0.546000 0.28920 0.650000 0.86243 CGG NOVEL TNP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417806.1 11 15.949096 KEEP 0 0 0 53 1766 GG 1 0.999973 0 - 6 60 171 0 0 10.123297 95 60 3195 216 ENST00000312693.3 0.059406 0.999973 SNX29 92017 __UNKNOWN__ __UNKNOWN__ 16 12146113 12146113 __UNKNOWN__ Intron SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:12146113C>A ENST00000566228.1 + 8 1193 SNX29_ENST00000306030.3_Intron|SNX29_ENST00000323433.4_Intron NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 NA NA extracellular vesicular exosome (GO:0070062) phosphatidylinositol binding (GO:0035091) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 tctcaccgtcccccaggctgg 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 25 25 25 NA NA 16 NA 12146113 2196 4300 6496 SO:0001627 intron_variant AK074072 CCDS10553.2 16p13.13-p13.12 2011-08-16 ENSG00000048471 ENSG00000048471 92017 Sorting nexins 30542 protein-coding gene gene with protein product NA RUN domain containing 2A RUNDC2A NA 16782399 Standard XM_005255682 NA Approved FLJ12363 uc002dby.5 Q8TEQ0 ENST00000566228.1:c.1124+34C>A chr16.hg19:g.12146113C>A NA B5MDW2|Q8N2X2|Q9HA26 hg19 CCDS10553.2 0.02 1.076559 GTCxCCC COVERED NOVEL SNX29-005 PUTATIVE not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422622.1 17 22.908245 KEEP 0 1 28 86 3005 CC 1 0.999919 0 + 5 60 147 1 1 8.688767 86 60 3034 249 ENST00000566228.1 0.054945 0.999919 USP31 57478 __UNKNOWN__ __UNKNOWN__ 16 23079229 23079229 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:23079229T>C ENST00000219689.7 - 0 4196 NM_020718.3 NP_065769.3 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 31 NA NA ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ubiquitin-specific protease activity (GO:0004843) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) cacacacgcatacactcacac 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033029 CCDS10607.1 16p12.3 2008-02-05 2005-08-08 ENSG00000103404 ENSG00000103404 57478 Ubiquitin-specific peptidases 20060 protein-coding gene gene with protein product NA ubiquitin specific protease 31 NA 12838346 Standard NM_020718 NM_020718 NA Approved KIAA1203 uc002dll.3 Q70CQ4 OTTHUMG00000094793 ENST00000219689.7:c.*138A>G chr16.hg19:g.23079229T>C NA B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0 hg19 CCDS10607.1 0.02 1.853766 GCAxACA COVERED NOVEL USP31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211607.1 20 8.423995 KEEP 0 0 0 28 825 TT 0.999997 0.98954 0 - 4 60 137 1 0 9.26016 55 60 1531 127 ENST00000219689.7 0.067797 0.989542 GGA2 23062 __UNKNOWN__ __UNKNOWN__ 16 23475060 23475060 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:23475060T>C ENST00000309859.4 - 0 5775 NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802) ADP-ribosylation factor binding (GO:0030306) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) ctttgggaggtcaaggcagga 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF190863 CCDS10611.1 16p12 2010-02-12 2010-02-12 ENSG00000103365 ENSG00000103365 23062 16064 protein-coding gene gene with protein product 606005 NA 10747088, 10749927 Standard NM_015044 NA Approved VEAR, KIAA1080 uc002dlq.3 Q9UJY4 OTTHUMG00000096957 ENST00000309859.4:c.*3851A>G chr16.hg19:g.23475060T>C NA D3DWF0|O14564|Q9NYN2|Q9UPS2 hg19 CCDS10611.1 0.02 3.985675 AGGxCAA COVERED NOVEL GGA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214019.1 10 2.675236 KEEP 0 5 172 69 2031 TT 1 0.999996 0 - 6 60 206 1 0 13.459317 100 60 2968 244 ENST00000309859.4 0.056604 0.999996 XPO6 23214 __UNKNOWN__ __UNKNOWN__ 16 28167480 28167480 __UNKNOWN__ Missense_Mutation SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:28167480G>C ENST00000304658.5 - 7 1512 c.1012C>G c.(1012-1014)Cag>Gag p.Q338E XPO6_ENST00000565698.1_Missense_Mutation_p.Q324E|XPO6_ENST00000561488.1_5'UTR NM_015171.3 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 338 NA protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein transporter activity (GO:0008565) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 AAAGTCTGCTGGAACATACGC 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 99 89 92 NA NA 16 NA 28167480 1968 4171 6139 SO:0001583 missense AY026388 CCDS42135.1, CCDS59266.1 16p11.2 2011-04-13 2003-03-11 2003-03-14 ENSG00000169180 23214 Exportins 19733 protein-coding gene gene with protein product 608411 RAN binding protein 20 RANBP20 NA 14592989 Standard XM_055195 NM_001270940 NA Approved KIAA0370, FLJ22519 uc002dpa.2 Q96QU8 ENST00000304658.5:c.1012C>G chr16.hg19:g.28167480G>C ENSP00000302790:p.Gln338Glu NA A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21 hg19 CCDS42135.1 0.02 5.410924 GCTxGAA COVERED . . . . . . . . . . G 22.8 4.339247 0.81911 . . ENSG00000169180 ENST00000304658 T 0.64991 -0.13 5.87 5.87 0.94306 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.60805 0.2297 M 0.66939 2.045 0.80722 D 1 P;P 0.48089 0.517;0.905 B;B 0.43536 0.109;0.423 T 0.60525 -0.7246 10 0.05620 T 0.96 -16.5787 18.0718 0.89410 0.0:0.0:1.0:0.0 . 338;338 B7ZM10;Q96QU8 .;XPO6_HUMAN E 338 ENSP00000302790:Q338E ENSP00000302790:Q338E Q - 1 0 XPO6 28074981 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.813000 0.99286 2.941000 0.99782 0.655000 0.94253 CAG NOVEL XPO6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433732.1 4 36.115742 KEEP 0 0 0 120 4141 GG 1 1 0 - 6 60 201 0 0 11.795526 158 60 5458 388 ENST00000304658.5 0.036585 1 SBK1 388228 __UNKNOWN__ __UNKNOWN__ 16 28332541 28332541 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:28332541C>T ENST00000341901.4 + 0 2363 NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 NA NA cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) kidney(1)|lung(3)|ovary(1) 5 cacacacacacacacacacac 0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32416.1 16p11.2 2013-09-27 2013-09-27 ENSG00000188322 388228 17699 protein-coding gene gene with protein product NA SH3-binding domain kinase 1 NA Standard XM_370948 XM_005255315 NA Approved Sbk uc002dpd.3 Q52WX2 ENST00000341901.4:c.*299C>T chr16.hg19:g.28332541C>T NA hg19 CCDS32416.1 0.02 2.322191 ACAxACA COVERED NOVEL SBK1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387677.1 6 18.892704 KEEP 1 1 17 69 2276 CC 1 1 0 + 8 60 220 0 0 13.080236 112 70 3688 243 ENST00000341901.4 0.066667 1 SBK1 388228 __UNKNOWN__ __UNKNOWN__ 16 28334717 28334717 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:28334717A>G ENST00000341901.4 + 0 4539 NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 NA NA cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) kidney(1)|lung(3)|ovary(1) 5 gtatgtgtgtatgtgtgtatg 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32416.1 16p11.2 2013-09-27 2013-09-27 ENSG00000188322 388228 17699 protein-coding gene gene with protein product NA SH3-binding domain kinase 1 NA Standard XM_370948 XM_005255315 NA Approved Sbk uc002dpd.3 Q52WX2 ENST00000341901.4:c.*2475A>G chr16.hg19:g.28334717A>G NA hg19 CCDS32416.1 0.02 5.575699 TGTxTGT COVERED NOVEL SBK1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387677.1 37 5.314958 KEEP 0 6 207 90 2605 AA 1 1 0 + 6 60 202 0 1 12.098218 146 60 4152 382 ENST00000341901.4 0.039474 1 SULT1A2 6799 __UNKNOWN__ __UNKNOWN__ 16 28603721 28603721 __UNKNOWN__ Missense_Mutation SNP C C T rs141581853 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:28603721C>T ENST00000533150.1 - 3 1655 c.539G>A c.(538-540)cGc>cAc p.R180H SULT1A2_ENST00000395630.1_Missense_Mutation_p.R213H|SULT1A2_ENST00000335715.4_Missense_Mutation_p.R213H P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 213 NA 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146) p.R213H(4) NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 TGGCAGGGAGCGCCCCACAAA 0.532 NA NA .||| 134 0.0267572 0.0363 0.0677 5008 , , NA 20273 0.005 NA 0.0268 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 4 Substitution - Missense(4) skin(2)|large_intestine(1)|NS(1) 132 119 123 NA NA 16 NA 28603721 2197 4300 6497 SO:0001583 missense U34804 CCDS10636.1 16p12.1 2008-02-05 ENSG00000197165 ENSG00000197165 6799 2.8.2.1 Sulfotransferases, cytosolic 11454 protein-coding gene gene with protein product 601292 STP2 NA 8661000, 8912648 Standard NM_001054 NM_001054 NA Approved HAST4 uc002dqh.2 P50226 OTTHUMG00000048082 ENST00000533150.1:c.539G>A chr16.hg19:g.28603721C>T ENSP00000435271:p.Arg180His NA A9QY25|P78393|Q14CJ7 hg19 0.02 1.161939 GAGxGCC COVERED . . . . . . . . . . c 15.21 2.765812 0.49574 . . ENSG00000197165 ENST00000533150;ENST00000335715;ENST00000395630 D;D;D 0.82526 -1.62;-1.62;-1.62 4.98 3.0 0.34707 Sulfotransferase domain (1); 0.265029 0.30329 N 0.009878 T 0.81307 0.4795 M 0.85462 2.755 0.22081 N 0.999373 B 0.12013 0.005 B 0.06405 0.002 T 0.73867 -0.3847 10 0.62326 D 0.03 . 6.5172 0.22254 0.0:0.7359:0.0:0.2641 . 213 P50226 ST1A2_HUMAN H 180;213;213 ENSP00000435271:R180H;ENSP00000338742:R213H;ENSP00000378992:R213H ENSP00000338742:R213H R - 2 0 SULT1A2 28511222 0.000000 0.05858 1.000000 0.80357 0.908000 0.53690 -0.149000 0.10204 2.300000 0.77407 0.456000 0.33151 CGC NOVEL SULT1A2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395195.1 5 7.958539 KEEP 0 2 55 46 1542 CC 1 0.997553 0 - 9 70 257 0 0 18.338852 61 60 2105 177 ENST00000533150.1 0.128571 0.997553 SPN 6693 __UNKNOWN__ __UNKNOWN__ 16 29681152 29681152 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:29681152A>G ENST00000360121.3 + 0 6195 NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 O75398 DEAF1_HUMAN sialophorin NA NA anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 agccgagatcacgccattgca 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J04536 CCDS10650.1 16p11.2 2008-07-31 2008-07-31 ENSG00000197471 ENSG00000197471 6693 CD molecules 11249 protein-coding gene gene with protein product leukosialin 182160 sialophorin (gpL115, leukosialin, CD43) NA 2784859, 2521952 Standard NM_001030288 NA Approved LSN, CD43, GPL115 uc002dtm.4 P16150 OTTHUMG00000097765 ENST00000360121.3:c.*4900A>G chr16.hg19:g.29681152A>G NA A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1 hg19 CCDS10650.1 0.02 -0.350838 ATCxCGC COVERED NOVEL SPN-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215001.2 9 2.736332 KEEP 1 1 5 11 332 AA 0.993634 0.87212 0 + 3 60 94 0 0 6.553801 28 60 846 75 ENST00000360121.3 0.096774 0.877708 PAGR1 79447 __UNKNOWN__ __UNKNOWN__ 16 29831227 29831227 __UNKNOWN__ 3'UTR SNP A A T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:29831227A>T ENST00000320330.6 + 0 1479 AC009133.12_ENST00000564980.1_RNA|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_3'UTR|AC009133.12_ENST00000569809.1_RNA Q9BTK6 PAGR1_HUMAN PAXIP1 associated glutamate-rich protein 1 NA NA histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) NA AGAGAGTGTGAGTGTGTGTGT 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC003640 CCDS10655.1 16p11.2 2012-10-12 2012-10-12 2012-10-12 ENSG00000185928 ENSG00000185928 79447 28707 protein-coding gene gene with protein product glutamate-rich coactivator interacting with SRC1/NCOA1, PTIP-associated 1 protein, glutamate-rich coactivator associated with SRC1 612033 chromosome 16 open reading frame 53 C16orf53 NA 17500065, 19039327 Standard NM_024516 NM_024516 NA Approved MGC4606, GAS, PA1 uc002dug.4 Q9BTK6 OTTHUMG00000132117 ENST00000320330.6:c.*152A>T chr16.hg19:g.29831227A>T NA A2ICR6 hg19 CCDS10655.1 0.02 1.124747 GTGxGTG COVERED NOVEL PAGR1-002 PUTATIVE basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000473165.1 19 10.965566 KEEP 0 1 30 47 1437 AA 1 0.999956 0 + 5 60 135 1 0 7.450785 89 60 2620 200 ENST00000320330.6 0.053191 0.999956 ZNF785 146540 __UNKNOWN__ __UNKNOWN__ 16 30592241 30592241 __UNKNOWN__ 3'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:30592241A>C ENST00000395216.2 - 0 3017 AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Intron|AC002310.7_ENST00000486926.1_RNA NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 gtaatcccagaactttgggag 0.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC040642 CCDS10685.1 16p11.2 2013-01-08 ENSG00000197162 ENSG00000197162 146540 Zinc fingers, C2H2-type, - 26496 protein-coding gene gene with protein product NA NA 10493829 Standard NM_152458 NM_152458 NA Approved FLJ32130 uc002dyu.3 A8K8V0 OTTHUMG00000132398 ENST00000395216.2:c.*1640T>G chr16.hg19:g.30592241A>C NA O75701|Q8IW91|Q8WV14|Q96MN0 hg19 CCDS10685.1 0.02 1.804348 CAGxACT COVERED NOVEL ZNF785-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255529.2 9 9.044086 KEEP 1 1 34 42 1128 AA 1 0.998993 0 - 4 60 142 0 0 9.306851 72 60 2012 155 ENST00000395216.2 0.052632 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33392125 33392125 __UNKNOWN__ IGR SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:33392125G>T NA NA RP11-23E10.4 (25312 upstream) : BMS1P8 (105037 downstream) NA NA NA TCCACAATTGGTATTTtcaga 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.33392125G>T NA hg19 0.02 4.785541 TTGxTAT COVERED NOVEL 0 27 16.392345 KEEP 7 4 121 97 3414 GG 1 1 0 8 54 245 0 0 14.704301 145 60 4963 359 0.052288 1 IGHV3OR16-13 100287372 __UNKNOWN__ __UNKNOWN__ 16 33629700 33629700 __UNKNOWN__ RNA SNP G G A rs2019670 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:33629700G>A ENST00000562905.2 + 0 20 immunoglobulin heavy variable 3/OR16-13 (non-functional) NA NA NA GGGCTGAGCTGGGTTTTCCTT 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA Z29610 16p11.2 2013-12-06 2008-09-11 ENSG00000271178 ENSG00000271178 100287372 Immunoglobulins / IGH orphons 5637 other immunoglobulin gene NA immunoglobulin heavy variable 3/OR16-13 NA Standard NG_011771 NG_011771 NA Approved IGHV3/OR16-13 OTTHUMG00000176357 ENST00000562905.2: chr16.hg19:g.33629700G>A NA hg19 0.02 3.02677 GCTxGGT COVERED NOVEL IGHV3OR16-13-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000431815.2 8 15.952161 KEEP 1 0 0 53 1885 GG 1 0.999992 0 + 6 60 182 0 0 11.039639 101 60 3513 244 ENST00000562905.2 0.056075 0.999992 LINC00273 649159 __UNKNOWN__ __UNKNOWN__ 16 33961317 33961317 __UNKNOWN__ lincRNA SNP G G A rs75989665 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:33961317G>A ENST00000539813.1 - 0 1186 NR_038368.1 long intergenic non-protein coding RNA 273 NA NA lung(1) 1 GGATCCCGCCGGGCCGGGCCG 0.746 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AY587847 16p11.2 2013-06-03 2011-08-11 2011-08-11 ENSG00000256642 ENSG00000256642 649159 Long non-coding RNAs 38595 other unknown non-protein coding RNA 273-1 NA non-protein coding RNA 273 NCRNA00273 NA Standard NR_038368 NR_038368 NA Approved TOP, NCRNA00273-1 uc021thl.1 OTTHUMG00000176379 ENST00000539813.1: chr16.hg19:g.33961317G>A NA hg19 0.02 4.427778 GCCxGGC COVERED . . . . . . . . . . N 2.586 -0.296215 0.05532 . . ENSG00000256642 ENST00000539813 . . . 0.337 0.337 0.15966 . . . . . T 0.31231 0.0790 . . . 0.09310 N 1 . . . . . . T 0.27226 -1.0080 3 . . . . . . . . . . . L 375 . . P - 2 0 AC136932.2 33868818 0.031000 0.19500 0.007000 0.13788 0.007000 0.05969 0.064000 0.14437 0.409000 0.25649 0.409000 0.27619 CCG NOVEL LINC00273-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000431840.1 55 22.949058 KEEP 0 4 120 119 3706 GG 1 1 0 - 6 60 168 0 0 12.121772 37 60 1227 436 ENST00000539813.1 0.139535 1 CNEP1R1 255919 __UNKNOWN__ __UNKNOWN__ 16 50069312 50069312 __UNKNOWN__ Intron SNP C C G rs570087741|rs2041918 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:50069312C>G ENST00000458059.3 + 7 1293 CNEP1R1_ENST00000427478.2_Intron|CNEP1R1_ENST00000565556.1_Intron|CNEP1R1_ENST00000562576.1_Intron NM_153261.4 NP_694993.2 Q8N9A8 NEPR1_HUMAN CTD nuclear envelope phosphatase 1 regulatory subunit 1 NA NA lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965) NA AAAATTCTGTCTTTTCATTTT 0.328 NA NA 3034 0.605831 0.3555 0.7176 5008 , , NA 19842 0.6458 NA 0.7048 False NA ,,, NA NA NA 2504 0.7219 NA NA NA NA 0 C 1488,2110 327,834,638 56 50 52 -3.7 0 16 dbSNP_94 52 5771,2353 2065,1641,356 no intron TMEM188 NM_153261.4 2392,2475,994 GG,GC,CC 28.9636,41.3563,38.0737 50069312 7259,4463 1799 4062 5861 SO:0001627 intron_variant AK095420 CCDS45480.1, CCDS61931.1 16q12.1 2012-02-01 2012-02-01 2012-02-01 ENSG00000205423 ENSG00000205423 255919 26759 protein-coding gene gene with protein product nuclear envelope phosphatase 1-regulatory subunit 1 NA chromosome 16 open reading frame 69, transmembrane protein 188 C16orf69, TMEM188 NA 22134922 Standard NM_153261 NM_153261 NA Approved FLJ38101, NEP1-R1 uc002eft.3 Q8N9A8 ENST00000458059.3:c.388-16C>G chr16.hg19:g.50069312C>G NA Q4G1A9|Q5H9V0|Q8NE06 hg19 CCDS45480.1 0.02 -0.394772 TGTxTTT COVERED NOVEL CNEP1R1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000423129.1 2 10.233302 KEEP 0 0 0 34 1214 CC 0.999998 0.926638 0 + 3 60 97 0 0 6.379843 41 60 1463 125 ENST00000458059.3 0.068182 0.92664 NKD1 85407 __UNKNOWN__ __UNKNOWN__ 16 50668426 50668426 __UNKNOWN__ 3'UTR SNP T T C rs12913 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:50668426T>C ENST00000268459.3 + 0 2371 NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) NA NA eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GAGACCATCCTTCTCATTTTG 0.448 NA NA T||| 2640 0.527157 0.4879 0.5144 5008 , , NA 20060 0.504 NA 0.7087 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF358135 CCDS10743.1 16q12.1 2013-01-10 ENSG00000140807 ENSG00000140807 85407 EF-hand domain containing 17045 protein-coding gene gene with protein product 607851 NA 11356022 Standard NM_033119 NA Approved uc002egg.2 Q969G9 OTTHUMG00000133169 ENST00000268459.3:c.*734T>C chr16.hg19:g.50668426T>C NA B2RC39|Q8WZ08 hg19 CCDS10743.1 0.02 2.088073 TCCxTCT COVERED NOVEL NKD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256873.1 2 4.81401 KEEP 0 0 0 16 490 TT 0.997832 0.979826 0 + 6 60 210 0 0 15.634027 49 60 1470 106 ENST00000268459.3 0.109091 0.981955 CES1 1066 __UNKNOWN__ __UNKNOWN__ 16 55867006 55867006 __UNKNOWN__ 5'UTR SNP T T C rs12149371 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:55867006T>C ENST00000360526.3 - 0 64 CES1_ENST00000422046.2_5'UTR|CES1_ENST00000361503.4_5'UTR NM_001025194.1|NM_001025195.1|NM_001266.4 NP_001020365.1|NP_001020366.1|NP_001257.4 P23141 EST1_HUMAN carboxylesterase 1 NA NA epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636) endoplasmic reticulum (GO:0005783) carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374) NA all cancers(182;0.13)|Epithelial(162;0.137) Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519) GCGAGGTCTCTGTGCAGTTCA 0.617 NA NA .||| 1102 0.220048 0.2905 0.1599 5008 , , NA 15390 0.2183 NA 0.1759 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NSCLC(162;1801 2756 42904 52896) NA 0 G ,, 794,3580 155,484,1548 50 38 42 ,, -7.2 0 16 dbSNP_125 42 339,8207 41,257,3975 no utr-5,utr-5,utr-5 CES1 NM_001025194.1,NM_001025195.1,NM_001266.4 ,, 196,741,5523 CC,CT,TT 3.9668,18.1527,8.7693 ,, ,, 55867006 1133,11787 2187 4273 6460 SO:0001623 5_prime_UTR_variant BC012418 CCDS32450.1, CCDS45488.1, CCDS45489.1 16q22.2 2010-10-12 2010-10-12 ENSG00000198848 ENSG00000198848 1066 3.1.1.1 Carboxylesterases 1863 protein-coding gene gene with protein product human monocyte/macrophage serine esterase 1 114835 carboxylesterase 1 (monocyte/macrophage serine esterase 1) NA 2070086, 20931200 Standard NM_001266 XM_005255774 NA Approved HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2 uc002eil.3 P23141 ENST00000360526.3:c.-39A>G chr16.hg19:g.55867006T>C NA A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2 hg19 CCDS32450.1 0.02 1.789831 CTCxGTG COVERED NOVEL CES1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000433282.2 7 3.847393 KEEP 0 4 123 56 1708 TT 1 0.999862 0 - 4 60 139 0 0 8.746826 84 60 2560 201 ENST00000360526.3 0.045455 0.999862 NLRC5 84166 __UNKNOWN__ __UNKNOWN__ 16 57095842 57095842 __UNKNOWN__ Intron SNP A A G rs142124514|rs562268098|rs397719564|rs373087068|rs372275096|rs71383216 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:57095842A>G ENST00000262510.6 + 32 4379 NLRC5_ENST00000308149.7_Intron|NLRC5_ENST00000539144.1_Intron|NLRC5_ENST00000436936.1_Intron NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) ATTTaagaaaaaaagaaagaa 0.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF389420 CCDS10773.1 16q13 2008-02-05 ENSG00000140853 ENSG00000140853 84166 Nucleotide-binding domain and leucine rich repeat containing 29933 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5 613537 NA 12615073 Standard NM_032206 NM_032206 NA Approved NOD27, CLR16.1, FLJ21709 uc021tiu.1 Q86WI3 OTTHUMG00000133470 ENST00000262510.6:c.4154+229A>G chr16.hg19:g.57095842A>G NA B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7 hg19 CCDS10773.1 0.02 5.900355 AAAxAAA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 13.21|13.21 2.168059|2.168059 0.38315|0.38315 .|. .|. ENSG00000140853|ENSG00000140853 ENST00000538110;ENST00000543030|ENST00000538805 T;T|T 0.19394|0.77620 2.35;2.15|-1.11 2.98|2.98 -2.55|-2.55 0.06288|0.06288 .|. .|. .|. .|. .|. T|T 0.62974|0.62974 0.2472|0.2472 .|. .|. .|. 0.09310|0.09310 N|N 0.999999|0.999999 .|. .|. .|. .|. .|. .|. T|T 0.54200|0.54200 -0.8329|-0.8329 6|6 0.87932|0.41790 D|T 0|0.15 .|. 0.4394|0.4394 0.00484|0.00484 0.3176:0.1897:0.1215:0.3712|0.3176:0.1897:0.1215:0.3712 .|. .|. .|. .|. E|R 885;620|1160 ENSP00000441597:K885E;ENSP00000440153:K620E|ENSP00000442906:K1160R ENSP00000441597:K885E|ENSP00000442906:K1160R K|K +|+ 1|2 0|0 NLRC5|NLRC5 55653343|55653343 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.015000|0.015000 0.08874|0.08874 -0.491000|-0.491000 0.06474|0.06474 -0.602000|-0.602000 0.05775|0.05775 0.358000|0.358000 0.22013|0.22013 AAA|AAA NOVEL NLRC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257346.1 14 15.454965 KEEP 0 6 214 126 3914 AA 1 1 0 + 6 60 210 2 0 12.791456 152 60 4680 429 ENST00000262510.6 0.037975 1 NLRC5 84166 __UNKNOWN__ __UNKNOWN__ 16 57116726 57116726 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:57116726G>A ENST00000262510.6 + 0 6112 NLRC5_ENST00000308149.7_3'UTR|NLRC5_ENST00000539144.1_3'UTR|NLRC5_ENST00000436936.1_3'UTR NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGACACGTACGGTTATATGTG 0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF389420 CCDS10773.1 16q13 2008-02-05 ENSG00000140853 ENSG00000140853 84166 Nucleotide-binding domain and leucine rich repeat containing 29933 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5 613537 NA 12615073 Standard NM_032206 NM_032206 NA Approved NOD27, CLR16.1, FLJ21709 uc021tiu.1 Q86WI3 OTTHUMG00000133470 ENST00000262510.6:c.*286G>A chr16.hg19:g.57116726G>A NA B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7 hg19 CCDS10773.1 0.02 1.35951 TACxGTT COVERED NOVEL NLRC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257346.1 3 9.329457 KEEP 0 0 0 31 1040 GG 0.999997 0.99755 0 + 4 60 127 0 0 7.905174 68 60 2280 146 ENST00000262510.6 0.055556 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 65839537 65839537 __UNKNOWN__ IGR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:65839537T>C NA NA RP11-351A20.1 (158687 upstream) : RP11-513N24.1 (55477 downstream) NA NA NA gctgggattataggcataagc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr16.hg19:g.65839537T>C NA hg19 0.02 3.58454 TTAxAGG COVERED NOVEL 0 51 5.650534 KEEP 0 4 132 65 1901 TT 1 1 0 5 60 171 0 0 10.341826 122 70 3522 289 0.03937 1 FHOD1 29109 __UNKNOWN__ __UNKNOWN__ 16 67264021 67264021 __UNKNOWN__ Missense_Mutation SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:67264021C>A ENST00000258201.4 - 20 3409 c.3162G>T c.(3160-3162)aaG>aaT p.K1054N NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1054 DAD. NA positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634) identical protein binding (GO:0042802) p.K1054N(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TCAGCAGACTCTTCATACTAG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) lung(1) 97 97 97 NA NA 16 NA 67264021 2198 4300 6498 SO:0001583 missense AF113615 CCDS10834.1 16q22 2008-02-22 ENSG00000135723 ENSG00000135723 29109 17905 protein-coding gene gene with protein product 606881 NA 10352228, 16112087 Standard NM_013241 NA Approved FHOS uc002esl.3 Q9Y613 OTTHUMG00000137521 ENST00000258201.4:c.3162G>T chr16.hg19:g.67264021C>A ENSP00000258201:p.Lys1054Asn NA Q59F76|Q6Y1F2|Q76MS8|Q8N521 hg19 CCDS10834.1 0.02 2.962221 ACTxTTC COVERED . . . . . . . . . . C 13.36 2.212983 0.39102 . . ENSG00000135723 ENST00000258201 T 0.38560 1.13 5.03 1.84 0.25277 Actin-binding FH2/DRF autoregulatory (1); 0.169822 0.52532 D 0.000076 T 0.41971 0.1182 M 0.70595 2.14 0.54753 D 0.99998 B 0.32893 0.389 B 0.40602 0.334 T 0.18147 -1.0346 10 0.29301 T 0.29 . 6.6691 0.23058 0.0:0.6824:0.1479:0.1697 . 1054 Q9Y613 FHOD1_HUMAN N 1054 ENSP00000258201:K1054N ENSP00000258201:K1054N K - 3 2 FHOD1 65821522 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 1.112000 0.31172 0.829000 0.34733 0.561000 0.74099 AAG NOVEL FHOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268844.2 2 8.59319 KEEP 0 2 52 47 1587 CC 1 0.999984 0 - 9 60 264 0 0 17.368635 96 60 3267 201 ENST00000258201.4 0.085714 0.999984 NQO1 1728 __UNKNOWN__ __UNKNOWN__ 16 69744215 69744215 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:69744215A>G ENST00000379047.3 - 0 1615 NQO1_ENST00000320623.5_3'UTR|CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000561500.1_Intron NM_001025433.1 NP_001020604.1 P15559 NQO1_HUMAN NAD(P)H dehydrogenase, quinone 1 NA NA aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025) cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784) autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 10 Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163) cagcctgggtaacagagcaag 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M81600 CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1 16q12-q22 2012-10-02 2001-11-30 2001-12-07 ENSG00000181019 ENSG00000181019 1728 1.6.5.2 2874 protein-coding gene gene with protein product 125860 diaphorase (NADH/NADPH) (cytochrome b-5 reductase) NMOR1, DIA4 NA 2843525 Standard NM_001286137 NA Approved DHQU, QR1, DTD uc002exp.3 P15559 OTTHUMG00000137575 ENST00000379047.3:c.*664T>C chr16.hg19:g.69744215A>G NA B2R5Y9|B4DNM7|B7ZAD1|Q86UK1 hg19 CCDS32472.1 0.02 -0.166618 GGTxACA COVERED NOVEL NQO1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000268957.2 3 3.609948 KEEP 0 0 0 12 347 AA 0.993634 0.351693 0 - 3 60 104 1 0 8.233442 16 60 449 43 ENST00000379047.3 0.157895 0.353947 PDPR 55066 __UNKNOWN__ __UNKNOWN__ 16 70165739 70165739 __UNKNOWN__ Intron SNP C C T rs201458502 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:70165739C>T ENST00000288050.4 + 9 1804 PDPR_ENST00000568530.1_Intron|PDPR_ENST00000398122.3_Intron NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit NA NA cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759) aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GGCTCTGCAACCCCCCTCTCT 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45520.1 16q22.1 2010-08-24 ENSG00000090857 ENSG00000090857 55066 30264 protein-coding gene gene with protein product NA NA 9395502 Standard NM_017990 NM_017990 NA Approved PDP3 uc002eyf.1 Q8NCN5 ENST00000288050.4:c.848-315C>T chr16.hg19:g.70165739C>T NA A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9 hg19 CCDS45520.1 0.02 1.236746 CAAxCCC COVERED NOVEL PDPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434502.1 4 2.395367 KEEP 0 3 88 39 1363 CC 1 0.999678 0 + 8 58 223 0 0 14.7021 75 60 2605 186 ENST00000288050.4 0.096386 0.999678 PDPR 55066 __UNKNOWN__ __UNKNOWN__ 16 70165746 70165746 __UNKNOWN__ Intron SNP C C T rs202188872 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:70165746C>T ENST00000288050.4 + 9 1804 PDPR_ENST00000568530.1_Intron|PDPR_ENST00000398122.3_Intron NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit NA NA cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759) aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CAACCCCCCTCTCTGTTAAAC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45520.1 16q22.1 2010-08-24 ENSG00000090857 ENSG00000090857 55066 30264 protein-coding gene gene with protein product NA NA 9395502 Standard NM_017990 NM_017990 NA Approved PDP3 uc002eyf.1 Q8NCN5 ENST00000288050.4:c.848-308C>T chr16.hg19:g.70165746C>T NA A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9 hg19 CCDS45520.1 0.02 1.012807 CCTxTCT COVERED NOVEL PDPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434502.1 4 2.612552 KEEP 0 3 92 41 1441 CC 1 0.999804 0 + 8 53 229 0 0 15.169875 78 60 2685 194 ENST00000288050.4 0.093023 0.999804 PDPR 55066 __UNKNOWN__ __UNKNOWN__ 16 70191029 70191029 __UNKNOWN__ 3'UTR SNP T T G rs4985509 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:70191029T>G ENST00000288050.4 + 0 3844 PDPR_ENST00000568530.1_3'UTR|PDPR_ENST00000398122.3_3'UTR|PDPR_ENST00000567046.1_3'UTR|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000542659.1_3'UTR NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit NA NA cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759) aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) TCACTCAGCTTCTCGTGGTGG 0.507 NA NA T||| 2461 0.491414 0.8056 0.3386 5008 , , NA 31769 0.3661 NA 0.4264 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS45520.1 16q22.1 2010-08-24 ENSG00000090857 ENSG00000090857 55066 30264 protein-coding gene gene with protein product NA NA 9395502 Standard NM_017990 NM_017990 NA Approved PDP3 uc002eyf.1 Q8NCN5 ENST00000288050.4:c.*247T>G chr16.hg19:g.70191029T>G NA A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9 hg19 CCDS45520.1 0.02 3.929807 GCTxCTC COVERED . . . . . . . . . . T 7.459 0.644286 0.14451 . . ENSG00000090857 ENST00000205055 . . . 5.14 0.251 0.15540 . . . . . T 0.45994 0.1370 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.54543 -0.8278 4 0.49607 T 0.09 . 7.4479 0.27221 0.0:0.4597:0.0:0.5403 rs4985509;rs56789796 . . . C 567 . ENSP00000205055:F567C F + 2 0 PDPR 68748530 0.000000 0.05858 0.000000 0.03702 0.017000 0.09413 -0.270000 0.08584 0.002000 0.14630 -0.464000 0.05259 TTC NOVEL PDPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434502.1 9 12.669642 KEEP 0 1 37 55 1676 TT 1 0.999991 0 + 5 60 173 0 0 10.919594 102 60 3047 213 ENST00000288050.4 0.046729 0.999991 FUK 197258 __UNKNOWN__ __UNKNOWN__ 16 70513384 70513384 __UNKNOWN__ Intron SNP C C G rs11075764 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:70513384C>G ENST00000571514.1 + 15 2359 FUK_ENST00000288078.6_Intron|FUK_ENST00000378912.2_Intron Q8N0W3 FUK_HUMAN fucokinase NA NA cytoplasm (GO:0005737) ATP binding (GO:0005524)|fucokinase activity (GO:0050201) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) TAACCAGGGGCTATATCTGTA 0.582 NA NA C||| 1346 0.26877 0.1483 0.1902 5008 , , NA 18758 0.3343 NA 0.2515 False NA ,,, NA NA NA 2504 0.4376 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10891.2 16q22.1 2008-02-05 ENSG00000157353 ENSG00000157353 197258 2.7.1.52 29500 protein-coding gene gene with protein product L-fucose kinase 608675 NA 12056818 Standard NM_145059 XM_006721161 NA Approved FLJ39408 uc002eyy.3 Q8N0W3 OTTHUMG00000074085 ENST00000571514.1:c.1626+78C>G chr16.hg19:g.70513384C>G NA Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9 hg19 0.02 -0.42105 GGGxTAT COVERED NOVEL FUK-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000437736.2 2 6.019078 KEEP 0 0 0 20 676 CC 0.999863 0.948272 0 + 3 60 100 0 0 6.560495 45 60 1543 80 ENST00000571514.1 0.0625 0.948402 RP11-252A24.2 0 __UNKNOWN__ __UNKNOWN__ 16 74385310 74385310 __UNKNOWN__ RNA SNP T T C rs202132855 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:74385310T>C ENST00000429810.2 - 0 815 NA NA NA CAACTGGGCTTATGATTTCAG 0.423 NA NA .||| 16 0.00319489 0.0121 0 5008 , , NA 19814 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000429810.2: chr16.hg19:g.74385310T>C NA hg19 0.02 1.605013 GCTxATG COVERED NOVEL RP11-252A24.2-003 KNOWN basic retained_intron NA pseudogene OTTHUMT00000434683.1 1 8.79422 KEEP 8 2 68 53 1586 TT 1 0.998993 0 - 6 33 206 0 0 14.280567 72 60 2098 203 ENST00000429810.2 0.076923 0.998993 TMEM231 79583 __UNKNOWN__ __UNKNOWN__ 16 75575308 75575308 __UNKNOWN__ Missense_Mutation SNP C C G rs199813223 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:75575308C>G ENST00000258173.6 - 6 786 c.710G>C c.(709-711)aGg>aCg p.R237T RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000569294.1_5'UTR|TMEM231_ENST00000565067.1_Missense_Mutation_p.R189T|TMEM231_ENST00000568377.1_Missense_Mutation_p.R266T|RP11-77K12.8_ENST00000564489.1_RNA NM_001077418.1 NP_001070886.1 Q9H6L2 TM231_HUMAN transmembrane protein 231 237 NA cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224) ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038) endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 ATCTGCGGCCCTGCCCACCAG 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 C THR/ARG,THR/ARG,THR/ARG 0,3954 0,0,1977 62 68 66 797,710,362 4.4 0.9 16 66 14,8334 0,14,4160 yes missense,missense,missense TMEM231 NM_001077416.1,NM_001077418.1,NM_001077419.1 71,71,71 0,14,6137 GG,GC,CC 0.1677,0.0,0.1138 probably-damaging,probably-damaging,probably-damaging 266/346,237/317,121/201 75575308 14,12288 1977 4174 6151 SO:0001583 missense CCDS45530.1 16q23.1 2014-01-28 ENSG00000205084 ENSG00000205084 79583 37234 protein-coding gene gene with protein product 614949 NA 23012439 Standard NM_001077416 NM_001077416 NA Approved FLJ22167, ALYE870, PRO1886, JBTS20, MKS11 uc002fek.4 Q9H6L2 ENST00000258173.6:c.710G>C chr16.hg19:g.75575308C>G ENSP00000258173:p.Arg237Thr NA A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5 hg19 CCDS45530.1 0.02 1.871006 GCCxTGC COVERED . . . . . . . . . . C 20.4 3.979983 0.74360 0.0 0.001677 ENSG00000205084 ENST00000258173;ENST00000398114 T;T 0.65916 -0.18;-0.18 4.42 4.42 0.53409 . 0.268138 0.32204 N 0.006434 T 0.78136 0.4236 M 0.74881 2.28 0.45477 D 0.998442 D;P;D 0.69078 0.997;0.817;0.996 D;P;D 0.80764 0.994;0.555;0.99 T 0.80243 -0.1463 10 0.51188 T 0.08 -3.5056 15.9468 0.79799 0.0:1.0:0.0:0.0 . 266;237;266 B3KU85;Q9H6L2;G5E9E3 .;TM231_HUMAN;. T 237;266 ENSP00000258173:R237T;ENSP00000381184:R266T ENSP00000258173:R237T R - 2 0 TMEM231 74132809 1.000000 0.71417 0.938000 0.37757 0.913000 0.54294 4.417000 0.59822 2.166000 0.68216 0.467000 0.42956 AGG NOVEL TMEM231-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000435481.2 7 6.319855 KEEP 0 0 0 21 719 CC 0.999869 0.986024 0 - 5 60 172 0 0 12.15201 54 60 1875 111 ENST00000258173.6 0.084746 0.986153 RP11-538I12.3 0 __UNKNOWN__ __UNKNOWN__ 16 77281998 77281998 __UNKNOWN__ RNA SNP A A G rs13337994 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:77281998A>G ENST00000561672.1 + 0 73 RP11-538I12.2_ENST00000569032.1_RNA NA NA NA aaagcccaatatttgttatgg 0.423 NA NA G||| 334 0.0666933 0.1785 0.0375 5008 , , NA 20885 0.0139 NA 0.0229 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000561672.1: chr16.hg19:g.77281998A>G NA hg19 0.02 -0.377067 AATxTTT COVERED NOVEL RP11-538I12.3-001 KNOWN basic antisense NA antisense OTTHUMT00000433944.1 0 7.520081 KEEP 0 0 0 25 735 AA 0.999931 0.918107 0 + 4 60 142 0 0 10.331287 39 60 1116 98 ENST00000561672.1 0.093023 0.918171 OSGIN1 29948 __UNKNOWN__ __UNKNOWN__ 16 83983093 83983093 __UNKNOWN__ 5'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:83983093T>C ENST00000361711.3 + 0 422 RP11-505K9.4_ENST00000561562.1_3'UTR|RP11-505K9.4_ENST00000566309.1_3'UTR|OSGIN1_ENST00000343939.2_Silent_p.N13N Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065) growth factor activity (GO:0008083) autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GCCGGGGAAATATGCAGTGCA 0.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 101 78 86 NA NA 16 NA 83983093 2201 4300 6501 SO:0001623 5_prime_UTR_variant AY258066 CCDS10939.1 16q23.3 2010-11-23 ENSG00000140961 ENSG00000140961 29948 30093 protein-coding gene gene with protein product bone marrow stromal cell-derived growth inhibitor, pregnancy induced growth inhibitor 607975 NA 11459809, 14570898 Standard NM_013370 NM_182981 NA Approved BDGI, OKL38 uc002fhc.3 Q9UJX0 OTTHUMG00000137640 ENST00000361711.3:c.-51T>C chr16.hg19:g.83983093T>C NA Q52M33|Q86UQ1|Q96S88|Q9BZ70 hg19 CCDS10939.1 0.02 1.612317 AAAxATG COVERED NOVEL OSGIN1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000432616.1 2 14.268141 KEEP 0 1 36 60 1689 TT 1 0.999962 0 + 4 60 144 0 0 9.056571 94 60 2641 231 ENST00000361711.3 0.040816 0.999962 HSDL1 83693 __UNKNOWN__ __UNKNOWN__ 16 84156747 84156747 __UNKNOWN__ 3'UTR SNP G G A rs77571693 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:84156747G>A ENST00000219439.4 - 0 2657 HSDL1_ENST00000565275.1_5'UTR NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 NA NA mitochondrion (GO:0005739) oxidoreductase activity (GO:0016491) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 TGATCTAAGCGTGGAAGAGCT 0.433 NA NA G||| 158 0.0315495 0.0726 0.0202 5008 , , NA 22640 0 NA 0.0179 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF237684 CCDS10942.1, CCDS54046.1 16q24 2011-09-20 ENSG00000103160 ENSG00000103160 83693 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 16475 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 12C, member 3 NA NA 12153137, 19027726 Standard NM_031463 NM_031463 NA Approved SDR12C3 uc002fhk.2 Q3SXM5 OTTHUMG00000137635 ENST00000219439.4:c.*1488C>T chr16.hg19:g.84156747G>A NA B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22 hg19 CCDS10942.1 0.02 1.642889 AGCxTGG COVERED NOVEL HSDL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269076.3 8 8.125877 KEEP 0 0 0 27 915 GG 0.999988 0.963762 0 - 5 60 145 0 0 9.833631 45 60 1482 109 ENST00000219439.4 0.1 0.963774 HSDL1 83693 __UNKNOWN__ __UNKNOWN__ 16 84157059 84157059 __UNKNOWN__ 3'UTR SNP A A C rs1058438 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:84157059A>C ENST00000219439.4 - 0 2345 NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 NA NA mitochondrion (GO:0005739) oxidoreductase activity (GO:0016491) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 TATGACCCAAACTAAGGACAT 0.338 NA NA A||| 1109 0.221446 0.146 0.1657 5008 , , NA 21201 0.2401 NA 0.3042 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF237684 CCDS10942.1, CCDS54046.1 16q24 2011-09-20 ENSG00000103160 ENSG00000103160 83693 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 16475 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 12C, member 3 NA NA 12153137, 19027726 Standard NM_031463 NM_031463 NA Approved SDR12C3 uc002fhk.2 Q3SXM5 OTTHUMG00000137635 ENST00000219439.4:c.*1176T>G chr16.hg19:g.84157059A>C NA B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22 hg19 CCDS10942.1 0.02 2.047529 CAAxCTA COVERED NOVEL HSDL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269076.3 2 9.929344 KEEP 0 0 0 33 1031 AA 0.999998 0.997895 0 - 4 60 143 0 0 9.477944 69 60 2086 152 ENST00000219439.4 0.054795 0.997898 ATP2C2 9914 __UNKNOWN__ __UNKNOWN__ 16 84493081 84493081 __UNKNOWN__ Intron SNP G G A rs437299 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:84493081G>A ENST00000416219.2 + 24 2422 ATP2C2_ENST00000420010.2_Intron|ATP2C2_ENST00000262429.4_Intron|RP11-517C16.2_ENST00000565700.1_RNA O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 NA NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CAAGGCTATAGGGATGAACAA 0.582 NA NA G||| 635 0.126797 0.0522 0.1844 5008 , , NA 18374 0.0387 NA 0.2078 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091051 CCDS42207.1, CCDS67088.1 16q24.1 2010-04-20 ENSG00000064270 ENSG00000064270 9914 3.6.3.8 ATPases / P-type 29103 protein-coding gene gene with protein product secretory pathway calcium ATPase 2 613082 NA 9734811 Standard NM_014861 XM_006721355 NA Approved KIAA0703, SPCA2 uc002fhx.3 O75185 ENST00000416219.2:c.2334-31G>A chr16.hg19:g.84493081G>A NA B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2 hg19 0.02 1.552135 ATAxGGA COVERED NOVEL ATP2C2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000433405.1 0 14.445608 KEEP 0 0 0 48 1615 GG 1 0.999559 0 + 4 60 132 0 0 8.129934 80 60 2762 179 ENST00000416219.2 0.047619 0.999559 KLHDC4 54758 __UNKNOWN__ __UNKNOWN__ 16 87795580 87795580 __UNKNOWN__ Missense_Mutation SNP G G C rs2303772 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:87795580G>C ENST00000270583.5 - 2 224 c.166C>G c.(166-168)Ctt>Gtt p.L56V KLHDC4_ENST00000347925.5_Missense_Mutation_p.L56V|KLHDC4_ENST00000353170.5_Intron NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 56 NA L -> V (in dbSNP:rs2303772). breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) GGGCACGGAAGTTCCACAGTC 0.468 NA NA c||| 382 0.076278 0.0953 0.0634 5008 , , NA 20888 0.0188 NA 0.1123 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 T ,VAL/LEU,VAL/LEU 478,3918 35,408,1755 183 177 179 ,166,166 1.8 0 16 dbSNP_100 179 874,7726 49,776,3475 yes intron,missense,missense KLHDC4 NM_001184854.1,NM_001184856.1,NM_017566.3 ,32,32 84,1184,5230 CC,CG,GG 10.1628,10.8735,10.4032 ,benign,benign ,56/490,56/521 87795580 1352,11644 2198 4300 6498 SO:0001583 missense AK001742 CCDS10963.1, CCDS54050.1, CCDS54051.1 16q24 2008-02-05 ENSG00000104731 ENSG00000104731 54758 25272 protein-coding gene gene with protein product NA NA Standard NM_017566 NM_001184854 NA Approved DKFZp434G0522 uc002fki.3 Q8TBB5 OTTHUMG00000137657 ENST00000270583.5:c.166C>G chr16.hg19:g.87795580G>C ENSP00000270583:p.Leu56Val NA D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3 hg19 CCDS10963.1 0.02 2.017756 GAAxTTC COVERED 186 0.08516483516483517 52 0.10569105691056911 28 0.07734806629834254 13 0.022727272727272728 93 0.12269129287598944 t 0.001 -2.962716 0.00049 0.108735 0.101628 ENSG00000104731 ENST00000270583;ENST00000347925 T;T 0.70164 -0.46;3.24 4.12 1.82 0.25136 Kelch-type beta propeller (1); 0.159238 0.53938 D 0.000042 T 0.00412 0.0013 N 0.00621 -1.32 0.80722 P 0.0 B;B 0.19583 0.037;0.002 B;B 0.10450 0.005;0.005 T 0.05750 -1.0866 9 0.23302 T 0.38 -4.9895 7.4337 0.27143 0.0:0.0877:0.1401:0.7722 rs2303772;rs17699926;rs52817010;rs2303772 56;56 Q8TBB5-3;Q8TBB5 .;KLDC4_HUMAN V 56 ENSP00000270583:L56V;ENSP00000325717:L56V ENSP00000270583:L56V L - 1 0 KLHDC4 86353081 0.130000 0.22417 0.000000 0.03702 0.002000 0.02628 1.245000 0.32790 -0.232000 0.09811 -3.255000 0.00050 CTT NOVEL KLHDC4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000269109.2 0 12.641049 KEEP 0 0 0 42 1491 GG 1 0.993703 0 - 4 60 144 0 0 9.812598 60 60 2105 158 ENST00000270583.5 0.0625 0.993703 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88921634 88921634 __UNKNOWN__ 3'UTR SNP C C G rs34150867 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:88921634C>G ENST00000568311.1 - 0 604 GALNS_ENST00000565364.1_Intron|GALNS_ENST00000542788.1_Splice_Site|GALNS_ENST00000268695.5_Intron P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) CCCCGCCTCACCCCTCTGTCC 0.428 NA NA G||| 2007 0.400759 0.6233 0.2867 5008 , , NA 17227 0.4444 NA 0.2992 False NA ,,, NA NA NA 2504 0.2403 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000568311.1:c.*161G>C chr16.hg19:g.88921634C>G NA Q86VK3 hg19 0.02 1.847844 TCAxCCC COVERED 861 0.3942307692307692 295 0.5995934959349594 99 0.27348066298342544 245 0.42832167832167833 222 0.2928759894459103 G 0.788 -0.759765 0.03019 . . ENSG00000141012 ENST00000542788 . . . 0.676 -0.451 0.12214 . . . . . . . . . . . 0.39062 P 0.039456999999999964 . . . . . . . . . . . . . . . . . rs34150867;rs56675682 . . . . -1 . . . - . . GALNS 87449135 0.000000 0.05858 0.001000 0.08648 0.004000 0.04260 -0.704000 0.05058 -0.906000 0.03866 -0.647000 0.03941 . NOVEL GALNS-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000430329.1 4 7.259231 KEEP 0 1 34 36 1266 CC 1 0.997897 0 - 4 60 144 0 0 9.601699 68 60 2362 160 ENST00000568311.1 0.055556 0.997898 ZNF778 197320 __UNKNOWN__ __UNKNOWN__ 16 89294595 89294595 __UNKNOWN__ Silent SNP C C T rs74466939 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:89294595C>T ENST00000433976.2 + 6 2147 c.1815C>T c.(1813-1815)atC>atT p.I605I RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.I563I NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 605 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) CACACCTTATCGTGCACATAA 0.473 NA NA C||| 813 0.16234 0.1248 0.2651 5008 , , NA 22985 0.1746 NA 0.0815 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 C , 557,3831 227.8+/-242.9 39,479,1676 92 96 95 1899,1815 -1.7 0 16 dbSNP_131 95 860,7738 190.1+/-236.7 45,770,3484 no coding-synonymous,coding-synonymous ZNF778 NM_001201407.1,NM_182531.3 , 84,1249,5160 TT,TC,CC 10.0023,12.6937,10.9118 , 633/758,605/730 89294595 1417,11569 2194 4299 6493 SO:0001819 synonymous_variant AK056437 CCDS45550.1, CCDS73928.1 16q24.3 2014-09-17 ENSG00000170100 ENSG00000170100 197320 Zinc fingers, C2H2-type, - 26479 protein-coding gene gene with protein product NA NA Standard NM_182531 NM_182531 NA Approved FLJ31875 uc021tms.1 Q96MU6 ENST00000433976.2:c.1815C>T chr16.hg19:g.89294595C>T NA Q08AG0 hg19 CCDS45550.1 0.02 1.555288 TATxGTG COVERED NOVEL ZNF778-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430383.1 9 3.444246 KEEP 0 1 30 22 710 CC 0.999892 0.989436 0 + 4 60 124 0 0 7.993015 54 60 1746 111 ENST00000433976.2 0.068966 0.989542 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89806819 89806819 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr16:89806819C>G ENST00000389301.3 - 39 3859 FANCA_ENST00000568369.1_Intron|ZNF276_ENST00000289816.5_3'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) aggccgaggtcggcggatcac 0.527 NA NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.3829-312G>C chr16.hg19:g.89806819C>G NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 -0.271928 GGTxGGC COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 6 2.708449 KEEP 0 0 0 9 291 CC 0.99254 0.711964 0 - 3 60 95 0 0 6.653333 28 60 907 54 ENST00000389301.3 0.096774 0.717315 CLUH 23277 __UNKNOWN__ __UNKNOWN__ 17 2599778 2599778 __UNKNOWN__ Missense_Mutation SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:2599778A>C ENST00000570628.2 - 12 2228 c.2123T>G c.(2122-2124)aTc>aGc p.I708S CLUH_ENST00000538975.1_Missense_Mutation_p.I708S|CLUH_ENST00000435359.1_Missense_Mutation_p.I708S O75153 CLU_HUMAN clustered mitochondria (cluA/CLU1) homolog 708 NA intracellular distribution of mitochondria (GO:0048312) cytoplasm (GO:0005737) NA GGTGCTGCTGATGGAGCCGAC 0.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 27 34 31 NA NA 17 NA 2599778 2090 4209 6299 SO:0001583 missense AB014564 CCDS45572.1 17p13.3 2012-12-18 2012-11-30 2012-11-30 ENSG00000132361 ENSG00000132361 23277 29094 protein-coding gene gene with protein product NA KIAA0664 KIAA0664 NA Standard NM_015229 XM_005256567 NA Approved CLU1 uc002fuy.1 O75153 OTTHUMG00000177575 ENST00000570628.2:c.2123T>G chr17.hg19:g.2599778A>C ENSP00000458986:p.Ile708Ser NA Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979 hg19 CCDS45572.1 0.02 6.055917 CTGxTGG COVERED . . . . . . . . . . A 16.36 3.102648 0.56183 . . ENSG00000132361 ENST00000435359;ENST00000322335;ENST00000538975 D;D 0.81739 -1.53;-1.53 5.66 5.66 0.87406 . 0.186055 0.56097 D 0.000023 T 0.78136 0.4236 M 0.72894 2.215 0.80722 D 1 B;B 0.09022 0.002;0.001 B;B 0.14023 0.01;0.007 T 0.73202 -0.4057 10 0.32370 T 0.25 . 11.0202 0.47713 0.9252:0.0:0.0748:0.0 . 708;708 O75153;C9J6D7 K0664_HUMAN;. S 708 ENSP00000388872:I708S;ENSP00000439628:I708S ENSP00000320468:I708S I - 2 0 KIAA0664 2546528 1.000000 0.71417 1.000000 0.80357 0.972000 0.66771 7.131000 0.77243 2.158000 0.67659 0.482000 0.46254 ATC NOVEL CLUH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437807.2 2 4.19314 KEEP 0 8 293 116 3568 AA 1 1 0 - 6 60 214 0 0 12.965972 166 60 5088 448 ENST00000570628.2 0.034884 1 CTNS 1497 __UNKNOWN__ __UNKNOWN__ 17 3553656 3553656 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:3553656A>G ENST00000381870.3 + 5 684 CTNS_ENST00000488623.1_Intron|CTNS_ENST00000441220.2_Intron|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000046640.3_Intron|CTNS_ENST00000399306.2_3'UTR NM_001031681.2 NP_001026851.2 O60931 CTNS_HUMAN cystinosin, lysosomal cystine transporter NA NA adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886) L-cystine transmembrane transporter activity (GO:0015184) NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2) 10 COAD - Colon adenocarcinoma(5;0.0829) L-Cystine(DB00138) tgcacctgtaatcccagctac 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ222967 CCDS11031.1, CCDS32530.1 17p13 2011-06-07 2011-06-07 ENSG00000040531 ENSG00000040531 1497 2518 protein-coding gene gene with protein product 606272 cystinosis, nephropathic NA 9537412, 15128704 Standard NM_004937 NM_004937 NA Approved CTNS-LSB, PQLC4 uc002fwa.3 O60931 OTTHUMG00000090693 ENST00000381870.3:c.225+1431A>G chr17.hg19:g.3553656A>G NA D3DTJ5|Q8IZ01|Q9UNK6 hg19 CCDS32530.1 0.02 3.921755 GTAxTCC COVERED NOVEL CTNS-002 KNOWN basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000207377.1 29 24.440368 KEEP 0 2 71 106 3257 AA 1 1 0 + 6 60 217 1 0 13.987817 125 60 3829 348 ENST00000381870.3 0.045802 1 P2RX5-TAX1BP3 100533970 __UNKNOWN__ __UNKNOWN__ 17 3575800 3575800 __UNKNOWN__ Intron SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:3575800G>C ENST00000550383.1 - 12 1448 P2RX5_ENST00000552276.1_Intron|P2RX5_ENST00000435558.1_Intron P2RX5-TAX1BP3 readthrough (NMD candidate) NA NA NA GGTGGGAGAGGAGAAAAAAGG 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 17p13.2 2013-09-25 ENSG00000257950 ENSG00000257950 100533970 49191 other readthrough NA NA Standard NR_037928 NA Approved OTTHUMG00000169623 ENST00000550383.1:c.1260-13C>G chr17.hg19:g.3575800G>C NA hg19 0.02 -0.333369 GAGxAGA COVERED NOVEL P2RX5-TAX1BP3-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000405135.1 2 4.514794 KEEP 0 0 0 15 535 GG 0.99649 0.848994 0 - 9 60 325 0 0 27.760616 29 60 1025 82 ENST00000550383.1 0.236842 0.851984 PITPNM3 83394 __UNKNOWN__ __UNKNOWN__ 17 6354965 6354965 __UNKNOWN__ 3'UTR SNP T T C rs3169862 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:6354965T>C ENST00000262483.8 - 0 6705 PITPNM3_ENST00000421306.3_3'UTR NM_031220.3 NP_112497.2 Q9BZ71 PITM3_HUMAN PITPNM family member 3 NA NA phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914) integral component of membrane (GO:0016021)|intracellular (GO:0005622) calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GGGTCACCTGTTTCTCCTTTG 0.582 NA NA C||| 2414 0.482029 0.5915 0.5303 5008 , , NA 14372 0.2768 NA 0.5547 False NA ,,, NA NA NA 2504 0.4366 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF334586 CCDS11076.1, CCDS54080.1 17p13 2013-07-18 2013-07-18 2013-07-18 ENSG00000091622 ENSG00000091622 83394 GPCR / Class A : Chemokine receptors : Atypical 21043 protein-coding gene gene with protein product atypical chemokine receptor 6 608921 cone rod dystrophy 5 CORD5 NA 10022914 Standard NM_031220 NM_031220 NA Approved NIR1, RDGBA3, ACKR6 uc002gdd.4 Q9BZ71 OTTHUMG00000102039 ENST00000262483.8:c.*3693A>G chr17.hg19:g.6354965T>C NA A1A5D0|F8WEW5|Q59GH9|Q9NPQ4 hg19 CCDS11076.1 0.02 1.637621 CTGxTTC COVERED NOVEL PITPNM3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000219824.2 1 14.141432 KEEP 0 0 0 47 1437 TT 1 0.99994 0 - 4 60 144 0 0 9.109818 91 60 2670 196 ENST00000262483.8 0.042105 0.99994 KIAA0753 9851 __UNKNOWN__ __UNKNOWN__ 17 6538355 6538355 __UNKNOWN__ Silent SNP G G A rs2301873 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:6538355G>A ENST00000361413.3 - 2 427 c.69C>T c.(67-69)agC>agT p.S23S KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_Intron NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 23 NA centrosome (GO:0005813)|cytoplasm (GO:0005737) endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) CTTTGGGGTCGCTCCTCCCAT 0.413 NA NA G||| 1684 0.336262 0.2655 0.3271 5008 , , NA 16510 0.2897 NA 0.4543 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 G 1105,2703 158,789,957 108 98 101 69 0.3 0 17 dbSNP_100 101 3516,4718 754,2008,1355 no coding-synonymous KIAA0753 NM_014804.2 912,2797,2312 AA,AG,GG 42.701,29.0179,38.374 23/968 6538355 4621,7421 1904 4117 6021 SO:0001819 synonymous_variant CCDS42247.1 17p13.1 2014-04-04 ENSG00000198920 ENSG00000198920 9851 29110 protein-coding gene gene with protein product NA NA 24613305 Standard NM_014804 NM_014804 NA Approved uc002gde.4 Q2KHM9 OTTHUMG00000177928 ENST00000361413.3:c.69C>T chr17.hg19:g.6538355G>A NA A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45 hg19 CCDS42247.1 0.02 1.599083 GTCxCTC COVERED NOVEL KIAA0753-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439769.3 1 6.621312 KEEP 0 0 0 22 769 GG 0.999879 0.979408 0 - 5 60 149 0 0 9.975127 51 60 1691 107 ENST00000361413.3 0.089286 0.979526 KCTD11 147040 __UNKNOWN__ __UNKNOWN__ 17 7257876 7257876 __UNKNOWN__ 3'UTR SNP T T G rs200304545 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:7257876T>G ENST00000333751.3 + 0 2669 RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 NA NA cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008) cytoplasm (GO:0005737) kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) gtgtgtgtgtttatgtgCACG 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056227 CCDS32545.1 17p13.2 2013-06-20 2013-06-20 2003-11-26 ENSG00000213859 ENSG00000213859 147040 21302 protein-coding gene gene with protein product 609848 chromosome 17 open reading frame 36, potassium channel tetramerisation domain containing 11 C17orf36 NA 12186855, 21472142 Standard NM_001002914 NM_001002914 NA Approved REN, KCASH1 uc002gge.4 Q693B1 OTTHUMG00000132061 ENST00000333751.3:c.*916T>G chr17.hg19:g.7257876T>G NA B3KPE0 hg19 CCDS32545.1 0.02 1.620221 TGTxTAT COVERED NOVEL KCTD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255084.2 24 6.925631 KEEP 1 2 68 47 1324 TT 1 0.999956 0 + 5 60 169 0 0 10.860373 87 60 2494 193 ENST00000333751.3 0.054348 0.999956 KCTD11 147040 __UNKNOWN__ __UNKNOWN__ 17 7257878 7257878 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:7257878A>G ENST00000333751.3 + 0 2671 RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 NA NA cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008) cytoplasm (GO:0005737) kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) gtgtgtgtttatgtgCACGCA 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056227 CCDS32545.1 17p13.2 2013-06-20 2013-06-20 2003-11-26 ENSG00000213859 ENSG00000213859 147040 21302 protein-coding gene gene with protein product 609848 chromosome 17 open reading frame 36, potassium channel tetramerisation domain containing 11 C17orf36 NA 12186855, 21472142 Standard NM_001002914 NM_001002914 NA Approved REN, KCASH1 uc002gge.4 Q693B1 OTTHUMG00000132061 ENST00000333751.3:c.*918A>G chr17.hg19:g.7257878A>G NA B3KPE0 hg19 CCDS32545.1 0.02 3.992764 TTTxTGT COVERED NOVEL KCTD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255084.2 25 5.653256 KEEP 1 3 73 45 1196 AA 1 0.999968 0 + 7 60 246 2 0 17.164583 86 60 2329 197 ENST00000333751.3 0.075269 0.999968 TP53 7157 __UNKNOWN__ __UNKNOWN__ 17 7572063 7572063 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:7572063C>T ENST00000269305.4 - 0 2235 TP53_ENST00000445888.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 NA NA apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) p.0?(2)|p.?(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) Acetylsalicylic acid(DB00945) caggactgctcgagccgggga 0.542 NA 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 3 Whole gene deletion(2)|Unknown(1) haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; AF307851 CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1 17p13.1 2014-09-17 2008-01-16 ENSG00000141510 ENSG00000141510 7157 11998 protein-coding gene gene with protein product Li-Fraumeni syndrome 191170 NA 6396087, 3456488, 2047879 Standard NM_000546 NM_001126115 NA Approved p53, LFS1 uc002gij.3 P04637 OTTHUMG00000162125 ENST00000269305.4:c.*864G>A chr17.hg19:g.7572063C>T NA Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61 hg19 CCDS11118.1 0.02 1.06899 GCTxGAG COVERED NOVEL TP53-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367397.1 10 12.335901 KEEP 0 0 0 41 1345 CC 1 0.999907 0 - 5 60 137 0 0 7.705898 86 60 2859 204 ENST00000269305.4 0.054945 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 8243118 8243118 __UNKNOWN__ IGR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:8243118G>A NA NA RP11-849F2.4 (1042 upstream) : ODF4 (63 downstream) NA NA NA CTGAAGACTTGGCTTCCCTCC 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.8243118G>A NA hg19 0.02 1.357062 CTTxGCT COVERED NOVEL 0 16 7.825232 KEEP 1 0 0 26 901 GG 0.999957 0.9895 0 4 60 122 0 0 7.76234 55 60 1876 110 0.067797 0.989542 ADPRM 56985 __UNKNOWN__ __UNKNOWN__ 17 10614442 10614442 __UNKNOWN__ Missense_Mutation SNP A A G rs406446 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:10614442A>G ENST00000379774.4 + 4 1101 c.1010A>G c.(1009-1011)gAa>gGa p.E337G ADPRM_ENST00000609540.1_3'UTR NM_020233.4 NP_064618.3 Q3LIE5 ADPRM_HUMAN ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent 337 NA E -> G (in dbSNP:rs406446). ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872) NA TACAAGAAAGAAAGAGCCTTC 0.358 NA NA A||| 2440 0.48722 0.6853 0.4409 5008 , , NA 19424 0.3938 NA 0.4751 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 A GLY/GLU 2863,1543 654.9+/-399.8 933,997,273 63 69 67 1010 5.2 0.1 17 dbSNP_80 67 3800,4800 527.7+/-381.2 853,2094,1353 yes missense C17orf48 NM_020233.4 98 1786,3091,1626 GG,GA,AA 44.186,35.0204,48.7698 possibly-damaging 337/343 10614442 6663,6343 2203 4300 6503 SO:0001583 missense BC070155 CCDS11159.2 17p13.1 2012-07-20 2012-07-20 2012-07-20 ENSG00000170222 ENSG00000170222 56985 3.6.1.13, 3.6.1.16, 3.6.1.53 30925 protein-coding gene gene with protein product NA chromosome 17 open reading frame 48 C17orf48 NA 18352857 Standard NM_020233 XM_005256738 NA Approved MDS006 uc002gmt.3 Q3LIE5 OTTHUMG00000130366 ENST00000379774.4:c.1010A>G chr17.hg19:g.10614442A>G ENSP00000369099:p.Glu337Gly NA A8K9B4|D3DTS4|Q9BVD4|Q9NRU8 hg19 CCDS11159.2 0.02 3.683435 AAGxAAG COVERED 1034 0.4734432234432234 322 0.6544715447154471 160 0.4419889502762431 210 0.36713286713286714 342 0.45118733509234826 A 10.76 1.441681 0.25900 0.649796 0.44186 ENSG00000170222 ENST00000379774 T 0.32988 1.43 5.15 5.15 0.70609 . 0.928106 0.09098 N 0.848899 T 0.00012 0.0000 L 0.36672 1.1 0.18873 P 0.9999881927 B 0.27498 0.18 B 0.21546 0.035 T 0.42899 -0.9424 9 0.48119 T 0.1 -17.0904 12.5888 0.56432 1.0:0.0:0.0:0.0 rs406446;rs3169658;rs17817408;rs60519364;rs406446 337 Q3LIE5 ADPRM_HUMAN G 337 ENSP00000369099:E337G ENSP00000369099:E337G E + 2 0 C17orf48 10555167 0.064000 0.20934 0.073000 0.20177 0.547000 0.35210 0.796000 0.26986 2.163000 0.67991 0.482000 0.46254 GAA NOVEL ADPRM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252732.2 4 15.337 KEEP 0 0 0 51 1515 AA 1 0.999973 0 + 6 60 201 0 0 13.138689 93 60 2865 208 ENST00000379774.4 0.060606 0.999973 DNAH9 1770 __UNKNOWN__ __UNKNOWN__ 17 11786951 11786951 __UNKNOWN__ Silent SNP T T C rs8070256 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:11786951T>C ENST00000454412.2 + 56 10855 c.10855T>C c.(10855-10857)Ttg>Ctg p.L3619L DNAH9_ENST00000262442.4_Silent_p.L3619L|DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000396001.2_3'UTR Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3619 AAA 5. {ECO:0000250}. NA cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283) axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) p.L3619L(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCTGAAAACGTTGGAAGACAG 0.512 NA NA T||| 1933 0.385982 0.1256 0.3674 5008 , , NA 19406 0.4643 NA 0.5278 False NA ,,, NA NA NA 2504 0.5245 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T , 880,3526 342.5+/-307.2 94,692,1417 139 118 125 10855, -3.6 0 17 dbSNP_116 125 4401,4199 584.7+/-391.8 1121,2159,1020 no coding-synonymous,utr-5 DNAH9 NM_001372.3,NM_004662.2 , 1215,2851,2437 CC,CT,TT 48.8256,19.9728,40.6043 , 3619/4487, 11786951 5281,7725 2203 4300 6503 SO:0001819 synonymous_variant U61740 CCDS11160.1, CCDS11161.1 17p12 2009-05-07 2006-09-04 ENSG00000007174 ENSG00000007174 1770 Axonemal dyneins 2953 protein-coding gene gene with protein product 603330 dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9 DNAH17L NA 8812413, 11247663 Standard NM_001372 NM_001372 NA Approved Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9 uc002gne.3 Q9NYC9 OTTHUMG00000130383 ENST00000454412.2:c.10855T>C chr17.hg19:g.11786951T>C NA A2VCQ8|O15064|O95494|Q9NQ28 hg19 0.02 -0.393868 ACGxTGG COVERED NOVEL DNAH9-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000252758.4 4 5.112232 KEEP 0 0 0 17 485 TT 0.999366 0.926053 0 + 3 60 106 0 0 7.279741 41 60 1193 85 ENST00000454412.2 0.068182 0.92664 MYOCD 93649 __UNKNOWN__ __UNKNOWN__ 17 12620761 12620761 __UNKNOWN__ Intron SNP A A G rs12944823 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:12620761A>G ENST00000343344.4 + 4 253 MYOCD_ENST00000425538.1_Intron Q8IZQ8 MYCD_HUMAN myocardin NA NA cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012) nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GAAATCAGACACCAAGAGATG 0.463 NA NA A||| 3519 0.702676 0.6967 0.5879 5008 , , NA 18593 0.7272 NA 0.7773 False NA ,,, NA NA NA 2504 0.6902 NA NA NA NA 0 A , 3075,1331 690.8+/-405.3 1080,915,208 45 45 45 , -5.9 0 17 dbSNP_121 45 6692,1908 721.1+/-406.3 2594,1504,202 no intron,intron MYOCD NM_001146312.1,NM_153604.2 , 3674,2419,410 GG,GA,AA 22.186,30.2088,24.9039 , , 12620761 9767,3239 2203 4300 6503 SO:0001627 intron_variant AF532596 CCDS11163.1, CCDS54091.1 17p11.2 2004-03-01 ENSG00000141052 ENSG00000141052 93649 16067 protein-coding gene gene with protein product 606127 NA 11439182, 12397177 Standard NM_153604 XM_005256863 NA Approved MYCD uc002gno.2 Q8IZQ8 OTTHUMG00000058767 ENST00000343344.4:c.253+23A>G chr17.hg19:g.12620761A>G NA Q5UBU5|Q8N7Q1 hg19 CCDS11163.1 0.02 1.921467 GACxCCA COVERED NOVEL MYOCD-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000129950.1 2 15.041884 KEEP 0 0 0 50 1505 AA 1 0.998696 0 + 5 60 164 0 0 10.784283 71 60 2108 185 ENST00000343344.4 0.065789 0.998696 COX10 1352 __UNKNOWN__ __UNKNOWN__ 17 14111606 14111606 __UNKNOWN__ 3'UTR SNP T T C rs1050216 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:14111606T>C ENST00000261643.3 + 0 2485 NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) NA NA aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495) cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) GGTTACCAAATACGGTTACCT 0.483 NA NA C||| 1068 0.213259 0.1611 0.1182 5008 , , NA 18569 0.4087 NA 0.173 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U09466 CCDS11166.1 17p12 2013-05-24 2012-10-15 ENSG00000006695 ENSG00000006695 1352 Mitochondrial respiratory chain complex assembly factors 2260 protein-coding gene gene with protein product heme A: farnesyltransferase, protoheme IX farnesyltransferase, mitochondrial, heme O synthase 602125 COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase), COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) NA 9177788, 12928484 Standard NM_001303 NM_001303 NA Approved uc002gof.4 Q12887 OTTHUMG00000058814 ENST00000261643.3:c.*1076T>C chr17.hg19:g.14111606T>C NA B2R6U5|B4DJ50|O15334|Q969F7 hg19 CCDS11166.1 0.02 1.979612 AAAxACG COVERED NOVEL COX10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130003.1 0 5.415201 KEEP 0 0 0 18 531 TT 0.999859 0.984023 0 + 5 60 175 0 0 12.491282 53 60 1534 104 ENST00000261643.3 0.086207 0.984161 RP11-219A15.1 0 __UNKNOWN__ __UNKNOWN__ 17 16680080 16680080 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:16680080T>C ENST00000448331.3 + 17 5067 CCDC144A_ENST00000399273.1_3'UTR|CCDC144A_ENST00000443444.2_Intron NA NA NA agagggcatctttgtcttgtg 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000448331.3:c.4275+2484T>C chr17.hg19:g.16680080T>C NA hg19 0.02 1.842459 ATCxTTG COVERED NOVEL RP11-219A15.1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000445382.1 22 13.279056 KEEP 66 4 143 94 2957 TT 1 0.999622 0 + 6 60 221 0 0 15.578432 78 60 2374 335 ENST00000448331.3 0.071429 0.999622 RP11-219A15.1 0 __UNKNOWN__ __UNKNOWN__ 17 16680081 16680081 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:16680081T>C ENST00000448331.3 + 17 5067 CCDC144A_ENST00000399273.1_3'UTR|CCDC144A_ENST00000443444.2_Intron NA NA NA gagggcatctttgtcttgtgt 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000448331.3:c.4275+2485T>C chr17.hg19:g.16680081T>C NA hg19 0.02 1.825044 TCTxTGT COVERED NOVEL RP11-219A15.1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000445382.1 24 17.251472 KEEP 66 3 108 95 2890 TT 1 0.999726 0 + 4 60 148 0 0 9.685741 82 60 2448 342 ENST00000448331.3 0.046512 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 18175126 18175126 __UNKNOWN__ IGR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:18175126T>C NA NA RP1-178F10.1 (2984 upstream) : TOP3A (2154 downstream) NA NA NA ctgttaatcctagcactttgg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.18175126T>C NA hg19 0.02 3.792492 TCCxAGC COVERED NOVEL 0 27 13.41448 KEEP 1 5 182 108 3286 TT 1 1 0 6 60 212 0 0 13.550277 122 60 3694 365 0.046875 1 ZNF286B 729288 __UNKNOWN__ __UNKNOWN__ 17 18565350 18565350 __UNKNOWN__ 3'UTR SNP G G C rs9912644 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:18565350G>C ENST00000285274.5 - 0 1536 ZNF286B_ENST00000545289.1_Missense_Mutation_p.T490S P0CG31 Z286B_HUMAN zinc finger protein 286B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.T490S(2) endometrium(1)|lung(1) 2 TTTCTCTCCGGTATGAGTTCT 0.393 NA NA .||| 1496 0.298722 0.2095 0.4092 5008 , , NA 22635 0.3611 NA 0.3827 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 2 Substitution - Missense(2) endometrium(2) 103 101 102 NA NA 17 NA 18565350 692 1591 2283 SO:0001624 3_prime_UTR_variant CCDS58523.1 17p11.2 2013-01-08 ENSG00000249459 ENSG00000249459 729288 Zinc fingers, C2H2-type 33241 protein-coding gene gene with protein product zinc finger protein 590 NA zinc finger protein 286-like, zinc finger 286C pseudogene ZNF286L, ZNF286C NA Standard XM_001723047 NM_001145045 NA Approved ZNF590 uc010vyd.1 P0CG31 OTTHUMG00000178136 ENST00000285274.5:c.*1119C>G chr17.hg19:g.18565350G>C NA hg19 0.02 3.722064 CCGxTAT COVERED NOVEL ZNF286B-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000131052.3 13 28.893577 KEEP 45 0 0 96 3343 GG 1 1 0 - 5 49 176 0 0 10.592468 137 60 4746 375 ENST00000285274.5 0.035211 1 ZNF286B 729288 __UNKNOWN__ __UNKNOWN__ 17 18565423 18565423 __UNKNOWN__ 3'UTR SNP G G A rs9912852 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:18565423G>A ENST00000285274.5 - 0 1463 ZNF286B_ENST00000545289.1_Missense_Mutation_p.P466S P0CG31 Z286B_HUMAN zinc finger protein 286B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|lung(1) 2 CATTTGTACGGTTTCTTTCCA 0.393 NA NA .||| 1375 0.274561 0.2027 0.4496 5008 , , NA 22033 0.1935 NA 0.4066 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 G SER/PRO 333,1051 41,251,400 137 131 133 1396 2.6 1 17 dbSNP_119 133 1243,1939 237,769,585 no missense ZNF286B NM_001145045.1 74 278,1020,985 AA,AG,GG 39.0635,24.0607,34.516 probably-damaging 466/523 18565423 1576,2990 692 1591 2283 SO:0001624 3_prime_UTR_variant CCDS58523.1 17p11.2 2013-01-08 ENSG00000249459 ENSG00000249459 729288 Zinc fingers, C2H2-type 33241 protein-coding gene gene with protein product zinc finger protein 590 NA zinc finger protein 286-like, zinc finger 286C pseudogene ZNF286L, ZNF286C NA Standard XM_001723047 NM_001145045 NA Approved ZNF590 uc010vyd.1 P0CG31 OTTHUMG00000178136 ENST00000285274.5:c.*1046C>T chr17.hg19:g.18565423G>A NA hg19 0.02 2.394014 ACGxTTT COVERED NOVEL ZNF286B-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000131052.3 18 20.466195 KEEP 16 0 0 68 2368 GG 1 1 0 - 6 60 174 0 0 9.683322 126 60 4299 280 ENST00000285274.5 0.045455 1 TRIM16L 147166 __UNKNOWN__ __UNKNOWN__ 17 18639255 18639255 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:18639255C>T ENST00000449552.2 + 0 3013 TRIM16L_ENST00000395671.4_3'UTR Q309B1 TR16L_HUMAN tripartite motif containing 16-like NA NA cytoplasm (GO:0005737) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 tgagccactgcgccctgccTG 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant DQ232882 CCDS32588.1 17p11.2 2011-02-10 2011-01-25 ENSG00000108448 ENSG00000108448 147166 32670 protein-coding gene gene with protein product NA tripartite motif-containing 16-like NA Standard NM_001037330 XM_005256479 NA Approved TRIM70 uc002gui.1 Q309B1 OTTHUMG00000059050 ENST00000449552.2:c.*482C>T chr17.hg19:g.18639255C>T NA A0PK10|B2RUW6|B4DQK2|B4DWQ8 hg19 CCDS32588.1 0.02 2.626812 CTGxGCC COVERED NOVEL TRIM16L-012 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130670.3 43 21.272089 KEEP 29 3 92 103 3595 CC 1 1 0 + 8 49 219 0 0 13.186168 110 60 3826 368 ENST00000449552.2 0.067797 1 ALDH3A2 224 __UNKNOWN__ __UNKNOWN__ 17 19579869 19579869 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:19579869A>G ENST00000339618.4 + 0 2788 ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000176643.6_3'UTR|ALDH3A2_ENST00000395575.2_3'UTR NM_001031806.1 NP_001026976.1 P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 NA NA cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) aggaggctgaagcaggaggat 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L47162 CCDS11210.1, CCDS32589.1 17p11.2 2010-05-07 ENSG00000072210 ENSG00000072210 224 1.2.1.3 Aldehyde dehydrogenases 403 protein-coding gene gene with protein product fatty aldehyde dehydrogenase 609523 SLS, ALDH10 NA 7894487 Standard NM_000382 NA Approved FALDH uc002gwa.1 P51648 OTTHUMG00000059471 ENST00000339618.4:c.*1040A>G chr17.hg19:g.19579869A>G NA Q6I9T3|Q93011|Q96J37 hg19 CCDS32589.1 0.02 2.035445 TGAxGCA COVERED NOVEL ALDH3A2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132269.1 15 8.426383 KEEP 0 0 0 28 914 AA 0.999997 0.992091 0 + 4 60 130 0 0 8.625623 53 60 1607 131 ENST00000339618.4 0.070175 0.992094 AC004702.2 0 __UNKNOWN__ __UNKNOWN__ 17 20224794 20224794 __UNKNOWN__ lincRNA SNP A A G rs542179283 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:20224794A>G ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA NA NA NA GCTGGTGGAAAAACAGCGTCG 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000580225.1: chr17.hg19:g.20224794A>G NA hg19 0.02 4.064476 GAAxAAC COVERED NOVEL AC004702.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000448285.1 3 6.656644 KEEP 0 4 116 63 1873 AA 1 0.999981 0 + 6 47 205 0 0 13.432614 97 60 2852 244 ENST00000580225.1 0.058252 0.999981 RP11-434D2.11 0 __UNKNOWN__ __UNKNOWN__ 17 20459506 20459506 __UNKNOWN__ RNA SNP A A G rs113624258 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:20459506A>G ENST00000579603.1 - 0 89 NA NA NA TGCAGAGTCAATGAGGAGAGG 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000579603.1: chr17.hg19:g.20459506A>G NA hg19 0.02 2.014655 TCAxTGA COVERED NOVEL RP11-434D2.11-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000448286.1 9 5.583898 KEEP 0 2 70 43 1293 AA 1 0.973965 0 - 4 49 143 0 0 10.051941 49 60 1464 138 ENST00000579603.1 0.075472 0.973965 CCDC144NL 339184 __UNKNOWN__ __UNKNOWN__ 17 20768691 20768691 __UNKNOWN__ 3'UTR SNP C C T rs75640454 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:20768691C>T ENST00000327925.5 - 0 822 CCDC144NL_ENST00000539484.1_Intron NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like NA NA large_intestine(3)|lung(3)|skin(1) 7 TTCTTAAAGGCAAAAGTTAAT 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 65 60 62 NA NA 17 NA 20768691 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS32591.1 17p11.2 2009-01-15 ENSG00000205212 ENSG00000205212 339184 33735 protein-coding gene gene with protein product NA NA Standard NM_001004306 NM_001004306 NA Approved MGC87631 uc002gyf.3 Q6NUI1 OTTHUMG00000132271 ENST00000327925.5:c.*37G>A chr17.hg19:g.20768691C>T NA hg19 CCDS32591.1 0.02 1.347427 AGGxAAA COVERED NOVEL CCDC144NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255361.2 9 7.429588 KEEP 2 3 95 58 2072 CC 1 0.99993 0 - 12 53 352 0 0 25.841053 74 60 2589 222 ENST00000327925.5 0.139535 0.99993 CCDC144NL 339184 __UNKNOWN__ __UNKNOWN__ 17 20768692 20768692 __UNKNOWN__ 3'UTR SNP A A G rs4629022 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:20768692A>G ENST00000327925.5 - 0 821 CCDC144NL_ENST00000539484.1_Intron NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like NA NA large_intestine(3)|lung(3)|skin(1) 7 TCTTAAAGGCAAAAGTTAATA 0.343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 66 61 62 NA NA 17 NA 20768692 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS32591.1 17p11.2 2009-01-15 ENSG00000205212 ENSG00000205212 339184 33735 protein-coding gene gene with protein product NA NA Standard NM_001004306 NM_001004306 NA Approved MGC87631 uc002gyf.3 Q6NUI1 OTTHUMG00000132271 ENST00000327925.5:c.*36T>C chr17.hg19:g.20768692A>G NA hg19 CCDS32591.1 0.02 1.737154 GGCxAAA COVERED NOVEL CCDC144NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255361.2 9 2.847325 KEEP 1 4 136 57 1769 AA 1 0.99994 0 - 22 60 755 0 0 64.02186 70 60 2147 223 ENST00000327925.5 0.23913 0.99994 WSB1 26118 __UNKNOWN__ __UNKNOWN__ 17 25630388 25630388 __UNKNOWN__ Intron SNP T T C rs2270761 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:25630388T>C ENST00000427287.2 + 3 398 WSB1_ENST00000583193.1_Intron|WSB1_ENST00000262394.2_Intron|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000578312.1_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000581185.1_Intron Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 NA NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) intracellular (GO:0005622) lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CTTCCCCCACTCCAGTCTCTT 0.363 NA NA C||| 2564 0.511981 0.8548 0.3833 5008 , , NA 18467 0.2609 NA 0.3887 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 0 C , 3489,917 345.4+/-308.5 1378,733,92 83 88 86 , -3.2 0 17 dbSNP_100 86 3652,4948 620.2+/-397.0 790,2072,1438 no intron,intron WSB1 NM_015626.8,NM_134265.2 , 2168,2805,1530 CC,CT,TT 42.4651,20.8125,45.0946 , , 25630388 7141,5865 2203 4300 6503 SO:0001627 intron_variant AF069313 CCDS11220.1, CCDS11221.1 17q11.2 2013-01-09 2011-01-25 ENSG00000109046 ENSG00000109046 26118 WD repeat domain containing 19221 protein-coding gene gene with protein product 610091 WD repeat and SOCS box-containing 1 NA 10354473, 12076535 Standard NM_015626 XR_243778 NA Approved DKFZp564A122, DKFZp564B0482, SWIP1 uc002gzd.1 Q9Y6I7 OTTHUMG00000132293 ENST00000427287.2:c.117-5T>C chr17.hg19:g.25630388T>C NA Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656 hg19 0.02 1.751458 CACxCCA COVERED NOVEL WSB1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000445009.1 7 18.653283 KEEP 0 0 0 62 1942 TT 1 0.999559 0 + 4 60 138 0 0 8.77146 78 60 2433 210 ENST00000427287.2 0.04878 0.999559 RAB11FIP4 84440 __UNKNOWN__ __UNKNOWN__ 17 29843776 29843776 __UNKNOWN__ Intron SNP T T C rs570846985 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:29843776T>C ENST00000325874.8 + 4 565 RAB11FIP4_ENST00000394744.2_Intron NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) NA NA cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032) cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038) ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) tgagccaccgtgcctagagat 0.532 NA NA T||| 2 0.000399361 0 0 5008 , , NA 16520 0 NA 0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058724 CCDS11267.1 17q11.2 2013-01-10 ENSG00000131242 ENSG00000131242 84440 EF-hand domain containing 30267 protein-coding gene gene with protein product 611999 NA 11347906, 11468690 Standard NM_032932 NM_032932 NA Approved RAB11-FIP4, KIAA1821, MGC11316, FLJ00131 uc002hgn.1 Q86YS3 OTTHUMG00000132787 ENST00000325874.8:c.337-893T>C chr17.hg19:g.29843776T>C NA Q52LI1|Q8N829|Q8NDT7|Q969D8 hg19 CCDS11267.1 0.02 1.675054 CCGxGCC COVERED NOVEL RAB11FIP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256195.2 10 11.434151 KEEP 0 0 0 38 1168 TT 1 0.996724 0 + 4 60 134 0 1 8.759127 62 60 1900 169 ENST00000325874.8 0.060606 0.996724 TMEM132E 124842 __UNKNOWN__ __UNKNOWN__ 17 32966119 32966119 __UNKNOWN__ 3'UTR SNP G G C rs386796705|rs998638 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:32966119G>C ENST00000321639.5 + 0 4151 NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E NA NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) AGCCACCTATGCCCCACAAGA 0.632 NA NA C||| 3530 0.704872 0.6384 0.7565 5008 , , NA 18743 0.8423 NA 0.5706 False NA ,,, NA NA NA 2504 0.7546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BN000149 CCDS11283.1 17q12 2012-11-01 ENSG00000181291 ENSG00000181291 124842 26991 protein-coding gene gene with protein product NA NA Standard NM_207313 NM_207313 NA Approved uc002hif.3 Q6IEE7 OTTHUMG00000132927 ENST00000321639.5:c.*868G>C chr17.hg19:g.32966119G>C NA Q8WUF4|Q8WVA5 hg19 CCDS11283.1 0.02 5.574907 TATxCCC COVERED NOVEL TMEM132E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256440.2 1 31.597875 KEEP 0 0 0 105 3700 GG 1 1 0 + 6 60 204 0 0 12.078656 159 60 5649 401 ENST00000321639.5 0.036364 1 RFFL 117584 __UNKNOWN__ __UNKNOWN__ 17 33334863 33334863 __UNKNOWN__ 3'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:33334863A>C ENST00000315249.7 - 0 5438 RFFL_ENST00000580569.1_Intron|RP5-837J1.2_ENST00000578488.1_RNA ring finger and FYVE-like domain containing E3 ubiquitin protein ligase NA NA kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) agcaattctcatgcctcagcc 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF434816 CCDS11286.1 17q12 2012-02-23 2012-02-23 ENSG00000092871 ENSG00000092871 117584 RING-type (C3HC4) zinc fingers 24821 protein-coding gene gene with protein product 609735 ring finger and FYVE-like domain containing NA 15229288 Standard NM_057178 NR_037713 NA Approved rififylin, fring, RNF189, RNF34L uc002hin.1 Q8WZ73 OTTHUMG00000132933 ENST00000315249.7:c.*4124T>G chr17.hg19:g.33334863A>C NA hg19 CCDS11286.1 0.02 8.296242 CTCxTGC COVERED NOVEL RFFL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256460.2 72 13.560461 KEEP 0 9 333 161 4967 AA 1 1 0 - 9 60 322 1 0 20.411169 199 60 6066 582 ENST00000315249.7 0.043269 1 CCL16 6360 __UNKNOWN__ __UNKNOWN__ 17 34304326 34304326 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:34304326A>G ENST00000293275.3 - 0 714 NM_004590.2 NP_004581.1 O15467 CCL16_HUMAN chemokine (C-C motif) ligand 16 NA NA cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918) extracellular region (GO:0005576)|extracellular space (GO:0005615) chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009) endometrium(1)|lung(2) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ccaagatcacaccactgcact 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007454 CCDS11303.1 17q11.2 2014-05-06 2002-08-22 2002-08-23 ENSG00000161573 ENSG00000275152 6360 Chemokine ligands, Endogenous ligands 10614 protein-coding gene gene with protein product 601394 small inducible cytokine subfamily A (Cys-Cys), member 16 SCYA16 NA 8661057 Standard NM_004590 NM_004590 NA Approved NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1 uc002hkl.3 O15467 OTTHUMG00000188402 ENST00000293275.3:c.*276T>C chr17.hg19:g.34304326A>G NA Q4KKU0 hg19 CCDS11303.1 0.02 -0.350819 CACxCCA COVERED NOVEL CCL16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256579.1 6 8.424456 KEEP 0 0 0 28 852 AA 0.999997 0.877705 0 - 3 60 92 0 0 6.398894 27 60 802 88 ENST00000293275.3 0.1 0.877708 PIGW 284098 __UNKNOWN__ __UNKNOWN__ 17 34894883 34894883 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:34894883T>C ENST00000328396.2 + 0 1988 MYO19_ENST00000590081.1_Intron NM_178517.3 NP_848612.2 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transferase activity, transferring acyl groups (GO:0016746) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ggattacaggtgtgagccacc 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB097818 CCDS11313.1 17q21.1 2014-05-06 2006-06-28 ENSG00000184886 ENSG00000277161 284098 Phosphatidylinositol glycan anchor biosynthesis 23213 protein-coding gene gene with protein product 610275 phosphatidylinositol glycan, class W NA 14517336, 12714589 Standard NM_178517 XM_005257238 NA Approved Gwt1, FLJ37433 uc002hmz.1 Q7Z7B1 OTTHUMG00000188438 ENST00000328396.2:c.*418T>C chr17.hg19:g.34894883T>C NA Q8N9G3 hg19 CCDS11313.1 0.02 1.897514 AGGxGTG COVERED NOVEL PIGW-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256702.2 10 7.216318 KEEP 0 0 0 24 668 TT 0.999909 0.981866 0 + 4 60 132 0 0 8.921576 50 60 1475 109 ENST00000328396.2 0.074074 0.981955 LHX1 3975 __UNKNOWN__ __UNKNOWN__ 17 35301119 35301119 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:35301119T>C ENST00000254457.5 + 0 3323 NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 NA NA anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517) nucleus (GO:0005634)|protein complex (GO:0043234) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) catacacacatacacacgtac 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U14755 CCDS11316.1 17q12 2014-04-11 ENSG00000132130 ENSG00000273706 3975 Homeoboxes / LIM class 6593 protein-coding gene gene with protein product 601999 NA 9212161 Standard NM_005568 NM_005568 NA Approved LIM-1, LIM1 uc002hnh.2 P48742 OTTHUMG00000188456 ENST00000254457.5:c.*691T>C chr17.hg19:g.35301119T>C NA Q3MIW0 hg19 CCDS11316.1 0.02 3.470564 ACAxACA COVERED NOVEL LHX1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000256704.3 20 20.155158 KEEP 0 0 0 67 1945 TT 1 1 0 + 7 60 240 0 0 15.323197 131 60 3729 307 ENST00000254457.5 0.050725 1 MLLT6 4302 __UNKNOWN__ __UNKNOWN__ 17 36870972 36870972 __UNKNOWN__ Intron SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:36870972T>G ENST00000325718.7 + 9 910 MLLT6_ENST00000378137.5_3'UTR NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 NA NA regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) ctccagcctgtgcaacaagag 0.493 NA NA T MLL AL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 17 17q21 4302 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11327.1 17q21 2014-04-10 2001-11-28 ENSG00000108292 ENSG00000275023 4302 Zinc fingers, PHD-type 7138 protein-coding gene gene with protein product Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6, trithorax homolog 600328 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6 NA 8058765 Standard NM_005937 NM_005937 NA Approved AF17, FLJ23480 uc002hqi.4 P55198 OTTHUMG00000188498 ENST00000325718.7:c.820-893T>G chr17.hg19:g.36870972T>G NA Q59F28|Q96IU3|Q9H5F6|Q9UF49 hg19 CCDS11327.1 0.02 4.001014 CTGxGCA COVERED NOVEL MLLT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256799.1 20 3.246567 KEEP 0 4 144 61 1822 TT 1 1 0 + 7 60 230 1 0 14.610977 120 60 3592 302 ENST00000325718.7 0.055118 1 PIP4K2B 8396 __UNKNOWN__ __UNKNOWN__ 17 36923779 36923779 __UNKNOWN__ 3'UTR SNP T T C rs370982494 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:36923779T>C ENST00000269554.3 - 0 3896 NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta NA NA cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057) endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 cacacaaacatacacacacac 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U85245 CCDS11329.1 17q21.2 2007-08-14 2007-08-14 2007-08-14 ENSG00000276293 8396 2.7.1.149 8998 protein-coding gene gene with protein product 603261 phosphatidylinositol-4-phosphate 5-kinase, type II, beta PIP5K2B NA 9038203, 14691457, 9367159 Standard NM_003559 NM_003559 NA Approved PIP5KIIB, PIP5KIIbeta uc002hqs.3 P78356 ENST00000269554.3:c.*2165A>G chr17.hg19:g.36923779T>C NA Q5U0E8|Q8TBP2 hg19 CCDS11329.1 0.02 3.722696 ACAxACA COVERED NOVEL PIP4K2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256791.1 21 15.284373 KEEP 2 2 66 74 2059 TT 1 1 0 - 7 60 241 0 0 15.492236 128 60 3601 302 ENST00000269554.3 0.051852 1 TOP2A 7153 __UNKNOWN__ __UNKNOWN__ 17 38565964 38565964 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:38565964A>G ENST00000423485.1 - 11 1362 NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa NA NA apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819) condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) cctgggaggcagagattgcaa 0.502 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45672.1 17q21-q22 2008-08-06 2002-08-29 ENSG00000131747 ENSG00000131747 7153 5.99.1.2 11989 protein-coding gene gene with protein product 126430 topoisomerase (DNA) II alpha (170kD) TOP2 NA Standard NM_001067 NA Approved uc002huq.3 P11388 OTTHUMG00000155008 ENST00000423485.1:c.1204-1082T>C chr17.hg19:g.38565964A>G NA B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9 hg19 CCDS45672.1 0.02 -0.315736 GGCxGAG COVERED NOVEL TOP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338035.1 11 3.607153 KEEP 0 0 0 12 343 AA 0.993634 0.813254 0 - 3 60 105 0 0 7.486748 32 60 954 65 ENST00000423485.1 0.085714 0.818465 KRT40 125115 __UNKNOWN__ __UNKNOWN__ 17 39137387 39137387 __UNKNOWN__ Missense_Mutation SNP C C T rs2010027 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:39137387C>T ENST00000398486.2 - 6 864 c.704G>A c.(703-705)cGt>cAt p.R235H KRT40_ENST00000377755.4_Missense_Mutation_p.R235H NM_182497.3 NP_872303.2 Q6A162 K1C40_HUMAN keratin 40 235 Coil 1B.|Rod. NA R -> H (in dbSNP:rs2010027). intermediate filament (GO:0005882) structural molecule activity (GO:0005198) endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) AAGCTGTTCACGAAGCAAGTT 0.502 NA NA c||| 1807 0.360823 0.6853 0.2378 5008 , , NA 20547 0.1716 NA 0.2684 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 T HIS/ARG 2370,1684 716,938,373 90 97 94 704 -2.2 0.2 17 dbSNP_92 94 2302,6088 314,1674,2207 yes missense KRT40 NM_182497.3 29 1030,2612,2580 TT,TC,CC 27.4374,41.5392,37.5442 benign 235/432 39137387 4672,7772 2027 4195 6222 SO:0001583 missense AK093919 CCDS42320.1 17q21.2 2013-01-16 ENSG00000204889 ENSG00000204889 125115 -, Intermediate filaments type I, keratins (acidic) 26707 protein-coding gene gene with protein product NA NA 16831889 Standard NM_182497 NM_182497 NA Approved FLJ36600, KA36 uc010cxh.1 Q6A162 OTTHUMG00000133596 ENST00000398486.2:c.704G>A chr17.hg19:g.39137387C>T ENSP00000381500:p.Arg235His NA Q6IFU5 hg19 CCDS42320.1 0.02 1.528895 TCAxGAA COVERED 733 0.3356227106227106 338 0.6869918699186992 92 0.2541436464088398 96 0.16783216783216784 207 0.27308707124010556 c 15.14 2.744312 0.49151 0.584608 0.274374 ENSG00000204889 ENST00000377755;ENST00000398486 D;D 0.89343 -2.5;-2.5 5.4 -2.24 0.06909 Filament (1); 0.507141 0.14933 N 0.289963 T 0.00012 0.0000 M 0.70903 2.155 0.80722 P 0.0 B 0.33266 0.404 B 0.33196 0.159 T 0.40813 -0.9543 9 0.66056 D 0.02 . 6.3188 0.21206 0.1201:0.3779:0.0:0.502 rs2010027;rs17646708 235 Q6A162 K1C40_HUMAN H 235 ENSP00000366984:R235H;ENSP00000381500:R235H ENSP00000366984:R235H R - 2 0 KRT40 36390913 0.000000 0.05858 0.204000 0.23530 0.385000 0.30292 -0.494000 0.06451 -0.126000 0.11682 -0.119000 0.15052 CGT NOVEL KRT40-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257701.3 5 11.133868 KEEP 0 0 0 37 1198 CC 1 0.992925 0 - 5 60 147 0 0 9.481902 59 60 1890 127 ENST00000398486.2 0.078125 0.992926 KRT40 125115 __UNKNOWN__ __UNKNOWN__ 17 39137553 39137553 __UNKNOWN__ Intron SNP T T G rs8074364 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:39137553T>G ENST00000398486.2 - 6 848 KRT40_ENST00000377755.4_Intron NM_182497.3 NP_872303.2 Q6A162 K1C40_HUMAN keratin 40 NA NA intermediate filament (GO:0005882) structural molecule activity (GO:0005198) endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) ttttcaccacttagaagggcc 0.373 NA NA T||| 1807 0.360823 0.6853 0.2378 5008 , , NA 19425 0.1716 NA 0.2684 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093919 CCDS42320.1 17q21.2 2013-01-16 ENSG00000204889 ENSG00000204889 125115 -, Intermediate filaments type I, keratins (acidic) 26707 protein-coding gene gene with protein product NA NA 16831889 Standard NM_182497 NM_182497 NA Approved FLJ36600, KA36 uc010cxh.1 Q6A162 OTTHUMG00000133596 ENST00000398486.2:c.688-150A>C chr17.hg19:g.39137553T>G NA Q6IFU5 hg19 CCDS42320.1 0.02 1.648723 CACxTAG COVERED NOVEL KRT40-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257701.3 5 14.142292 KEEP 0 0 0 47 1479 TT 1 0.997898 0 - 4 60 134 0 0 8.579183 69 60 2169 173 ENST00000398486.2 0.054795 0.997898 KRTAP3-3 85293 __UNKNOWN__ __UNKNOWN__ 17 39149741 39149741 __UNKNOWN__ 3'UTR SNP T T C rs8072775 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:39149741T>C ENST00000391586.1 - 0 644 NM_033185.2 NP_149441.1 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 NA NA keratin filament (GO:0045095) structural molecule activity (GO:0005198) lung(2)|prostate(2) 4 Breast(137;0.00043) TCCTTAATTTTCAGAAAGATA 0.348 NA NA C||| 2693 0.53774 0.6732 0.536 5008 , , NA 18828 0.5278 NA 0.3718 False NA ,,, NA NA NA 2504 0.5368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ406933 CCDS32643.1 17q21.2 2013-06-25 ENSG00000212899 ENSG00000212899 85293 Keratin associated proteins 18890 protein-coding gene gene with protein product NA NA 11279113 Standard NM_033185 NA Approved KAP3.3 uc002hvr.1 Q9BYR6 OTTHUMG00000133591 ENST00000391586.1:c.*312A>G chr17.hg19:g.39149741T>C NA Q52LP0|Q6NTD4 hg19 CCDS32643.1 0.02 1.780297 TTTxCAG COVERED NOVEL KRTAP3-3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257695.1 1 9.926637 KEEP 0 0 0 33 1012 TT 0.999998 0.984159 0 - 4 60 131 0 0 8.722507 53 60 1642 132 ENST00000391586.1 0.070175 0.984161 KRTAP4-9 100132386 __UNKNOWN__ __UNKNOWN__ 17 39261693 39261693 __UNKNOWN__ Missense_Mutation SNP A A T rs113059833 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 NA aging (GO:0007568)|hair cycle (GO:0042633) keratin filament (GO:0045095) p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) endometrium(1) 18 22 21 NA NA 17 NA 39261693 692 1590 2282 SO:0001583 missense AJ406941 CCDS54124.1 17q21.2 2013-06-25 ENSG00000212722 ENSG00000212722 100132386 Keratin associated proteins 18910 protein-coding gene gene with protein product NA NA Standard NM_001146041 NM_001146041 NA Approved KAP4.9 uc010wfp.2 Q9BYQ8 OTTHUMG00000133584 ENST00000391415.1:c.53A>T chr17.hg19:g.39261693A>T ENSP00000375234:p.Asp18Val NA hg19 CCDS54124.1 0.02 4.73009 AAGxCCT COVERED . . . . . . . . . . . 6.082 0.383461 0.11524 . . ENSG00000212722 ENST00000391415;ENST00000333994 T 0.32272 1.46 2.51 0.174 0.15040 . . . . . T 0.25865 0.0630 M 0.64404 1.975 0.30580 P 0.762648 B 0.17852 0.024 B 0.14023 0.01 T 0.23154 -1.0196 8 0.45353 T 0.12 . 3.5681 0.07907 0.2702:0.2037:0.5261:0.0 . 18 Q9BYQ8 KRA49_HUMAN V 18 ENSP00000375234:D18V ENSP00000334461:D18V D + 2 0 KRTAP4-9 36515219 0.000000 0.05858 0.388000 0.26195 0.320000 0.28249 0.098000 0.15189 -0.245000 0.09625 0.155000 0.16302 GAC NOVEL KRTAP4-9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257688.1 2 11.191835 KEEP 6 8 247 124 3696 AA 1 1 0 + 10 49 316 0 0 19.469425 176 60 5298 499 ENST00000391415.1 0.053763 1 KRTAP4-3 85290 __UNKNOWN__ __UNKNOWN__ 17 39324333 39324333 __UNKNOWN__ Missense_Mutation SNP T T A rs12953139 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:39324333T>A ENST00000391356.2 - 1 91 c.92A>T c.(91-93)cAg>cTg p.Q31L NM_033187.1 NP_149443.1 Q9BYR4 KRA43_HUMAN keratin associated protein 4-3 31 NA aging (GO:0007568)|hair cycle (GO:0042633) keratin filament (GO:0045095) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGGTGGTCTGGCAGCAGCT 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 29 32 31 NA NA 17 NA 39324333 2195 4293 6488 SO:0001583 missense AJ406935 CCDS42331.1 17q21.2 2013-06-25 ENSG00000196156 ENSG00000196156 85290 Keratin associated proteins 18908 protein-coding gene gene with protein product NA NA Standard NM_033187 NA Approved KAP4.3 uc010cxl.3 Q9BYR4 OTTHUMG00000133639 ENST00000391356.2:c.92A>T chr17.hg19:g.39324333T>A ENSP00000375151:p.Gln31Leu NA hg19 CCDS42331.1 0.02 2.962433 GTCxGGC COVERED . . . . . . . . . . . 8.661 0.900435 0.17686 . . ENSG00000196156 ENST00000391356 T 0.01629 4.72 5.15 0.112 0.14623 . . . . . T 0.03608 0.0103 M 0.85373 2.75 0.80722 P 0.0 B 0.34181 0.44 B 0.38378 0.272 T 0.11131 -1.0600 8 0.35671 T 0.21 . 3.821 0.08836 0.1588:0.2591:0.0:0.5822 . 31 Q9BYR4 KRA43_HUMAN L 31 ENSP00000375151:Q31L ENSP00000375151:Q31L Q - 2 0 KRTAP4-3 36577859 0.006000 0.16342 0.208000 0.23602 0.204000 0.24138 0.129000 0.15830 0.020000 0.15106 0.533000 0.62120 CAG NOVEL KRTAP4-3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257784.1 5 7.787419 KEEP 0 2 57 46 1379 TT 1 0.999984 0 - 10 60 293 0 0 19.748147 95 60 2841 198 ENST00000391356.2 0.095238 0.999984 KRT15 3866 __UNKNOWN__ __UNKNOWN__ 17 39674540 39674540 __UNKNOWN__ Intron SNP A A G rs3744784 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:39674540A>G ENST00000254043.3 - 1 4084 KRT15_ENST00000393981.3_Intron|KRT15_ENST00000393974.3_Intron|KRT15_ENST00000393976.2_Intron NM_002275.3 NP_002266 P19012 K1C15_HUMAN keratin 15 NA NA epidermis development (GO:0008544) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634) scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) TGTACAGGGTACCAGCCACCT 0.502 NA NA A||| 1002 0.20008 0.1589 0.2032 5008 , , NA 19498 0.0843 NA 0.3519 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 A 934,3472 356.6+/-313.6 86,762,1355 83 77 79 -1.8 0 17 dbSNP_107 79 3117,5483 474.9+/-369.0 565,1987,1748 no intron KRT15 NM_002275.3 651,2749,3103 GG,GA,AA 36.2442,21.1984,31.1472 39674540 4051,8955 2203 4300 6503 SO:0001627 intron_variant CCDS11398.1 17q21.2 2013-06-20 ENSG00000171346 ENSG00000171346 3866 -, Intermediate filaments type I, keratins (acidic) 6421 protein-coding gene gene with protein product keratin-15, basic, keratin-15, beta, type I cytoskeletal 15, cytokeratin 15 148030 NA 16831889 Standard NM_002275 NM_002275 NA Approved K15, CK15, K1CO uc002hwy.3 P19012 OTTHUMG00000133435 ENST00000254043.3:c.498+41T>C chr17.hg19:g.39674540A>G NA B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4 hg19 CCDS11398.1 0.02 1.739656 GGTxCCA COVERED NOVEL KRT15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257301.1 9 8.723769 KEEP 0 0 0 29 836 AA 0.999997 0.998198 0 - 5 60 170 0 0 11.442424 69 60 1975 142 ENST00000254043.3 0.067568 0.9982 HAP1 9001 __UNKNOWN__ __UNKNOWN__ 17 39878102 39878102 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:39878102A>G ENST00000393939.2 - 0 4645 JUP_ENST00000540235.1_Intron P54257 HAP1_HUMAN huntingtin-associated protein 1 NA NA anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202) brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) gattacaggcatgagccaccg 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF040723 CCDS11406.1, CCDS42338.1, CCDS42339.1 17q21.2-q21.3 2008-04-23 2008-04-23 ENSG00000173805 ENSG00000173805 9001 4812 protein-coding gene gene with protein product neuroan 1 600947 HAP2 NA 7477378, 9668110 Standard NM_003949 NM_177977 NA Approved HLP, hHLP1, HIP5 uc002hxn.1 P54257 OTTHUMG00000133498 ENST00000393939.2:c.*2851T>C chr17.hg19:g.39878102A>G NA A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90 hg19 CCDS42339.1 0.02 1.748374 GGCxTGA COVERED NOVEL HAP1-007 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000389618.1 24 2.514556 KEEP 3 1 33 20 570 AA 0.999863 0.997761 0 - 4 60 134 0 0 8.789031 61 60 1817 126 ENST00000393939.2 0.061538 0.997898 BRCA1 672 __UNKNOWN__ __UNKNOWN__ 17 41197100 41197100 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:41197100C>T ENST00000357654.3 - 0 6305 BRCA1_ENST00000354071.3_3'UTR|BRCA1_ENST00000352993.3_3'UTR|BRCA1_ENST00000346315.3_3'UTR|BRCA1_ENST00000351666.3_3'UTR|BRCA1_ENST00000309486.4_3'UTR|BRCA1_ENST00000468300.1_3'UTR NM_007294.3 NP_009225.1 P38398 BRCA1_HUMAN breast cancer 1, early onset NA NA androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212) BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151) androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) ggattacaggcgtgagccacc 0.507 NA NA D, Mis, N, F, S ovarian breast, ovarian Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA yes Rec yes Hereditary breast/ovarian cancer 17 17q21 672 familial breast/ovarian cancer gene 1 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database U14680 CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2 17q21.31 2014-09-17 ENSG00000012048 ENSG00000012048 672 RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 1100 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 1, protein phosphatase 1, regulatory subunit 53 113705 NA 1676470 Standard NM_007294 NM_007300 NA Approved RNF53, BRCC1, PPP1R53 uc002ict.3 P38398 OTTHUMG00000157426 ENST00000357654.3:c.*595G>A chr17.hg19:g.41197100C>T NA O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9 hg19 CCDS11453.1 0.02 1.111474 AGGxGTG COVERED NOVEL BRCA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348798.2 17 10.467406 KEEP 1 1 32 46 1548 CC 1 0.999804 0 - 5 60 136 0 0 7.911114 74 60 2527 179 ENST00000357654.3 0.063291 0.999804 DHX8 1659 __UNKNOWN__ __UNKNOWN__ 17 41598940 41598940 __UNKNOWN__ Intron SNP T T C rs71361531|rs2271957 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:41598940T>C ENST00000262415.3 + 21 3335 DHX8_ENST00000540306.1_Intron NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 NA NA ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACAGGTAAGCTGGAATCTGAT 0.473 NA NA C||| 1400 0.279553 0.3374 0.2406 5008 , , NA 21011 0.3244 NA 0.2306 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NSCLC(56;1548 1661 49258 49987) NA 0 C 1494,2912 676.1+/-403.2 255,984,964 102 85 91 -6.9 0 17 dbSNP_100 91 2216,6384 710.4+/-405.8 299,1618,2383 no intron DHX8 NM_004941.1 554,2602,3347 CC,CT,TT 25.7674,33.9083,28.5253 41598940 3710,9296 2203 4300 6503 SO:0001627 intron_variant D50487 CCDS11464.1 17q21.31 2005-08-19 2003-06-13 2003-06-20 ENSG00000067596 1659 DEAH-boxes 2749 protein-coding gene gene with protein product 600396 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase) DDX8 NA 7935475 Standard NM_004941 NA Approved HRH1, PRP22, PRPF22 uc002idu.1 Q14562 ENST00000262415.3:c.3263+7T>C chr17.hg19:g.41598940T>C NA hg19 CCDS11464.1 0.02 4.128893 AGCxGGA COVERED NOVEL DHX8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453485.1 6 14.736823 KEEP 0 0 0 49 1488 TT 1 0.999991 0 + 6 60 204 0 0 13.230341 101 60 3181 237 ENST00000262415.3 0.056075 0.999991 UBTF 7343 __UNKNOWN__ __UNKNOWN__ 17 42283800 42283800 __UNKNOWN__ 3'UTR SNP T T A rs59928879 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:42283800T>A ENST00000302904.4 - 0 3597 CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_3'UTR P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I NA NA chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) nucleolus (GO:0005730)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) acacacacactcacacTCTTT 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC042297 CCDS11480.1, CCDS42346.1 17q21.31 2014-03-25 ENSG00000108312 ENSG00000108312 7343 12511 protein-coding gene gene with protein product 600673 NA 9126496 Standard NM_014233 NM_001076683 NA Approved UBF, NOR-90, UBF1, UBF2 uc010czs.3 P17480 OTTHUMG00000167585 ENST00000302904.4:c.*810A>T chr17.hg19:g.42283800T>A NA A8K6R8 hg19 CCDS11480.1 0.02 4.675458 CACxCAC COVERED NOVEL UBTF-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395205.1 40 10.630114 KEEP 0 6 169 95 2922 TT 1 1 0 - 13 60 383 1 0 24.878725 149 60 4500 399 ENST00000302904.4 0.080247 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 44336911 44336911 __UNKNOWN__ IGR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:44336911G>C NA NA KANSL1 (35737 upstream) : RP11-259G18.1 (7491 downstream) NA NA NA AGAGAGAATGGAGTCACTGTT 0.597 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr17.hg19:g.44336911G>C NA hg19 0.02 3.669386 ATGxAGT COVERED NOVEL 0 9 6.337252 KEEP 39 6 212 95 3355 GG 1 1 0 5 27 172 0 0 10.16245 139 50 4824 409 0.034722 1 CDC27 996 __UNKNOWN__ __UNKNOWN__ 17 45214564 45214564 __UNKNOWN__ Missense_Mutation SNP A A T rs201184967 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:45214564A>T ENST00000531206.1 - 14 1888 c.1885T>A c.(1885-1887)Tgt>Agt p.C629S CDC27_ENST00000066544.3_Missense_Mutation_p.C623S|CDC27_ENST00000446365.2_Missense_Mutation_p.C562S|CDC27_ENST00000527547.1_Missense_Mutation_p.C622S P30260 CDC27_HUMAN cell division cycle 27 623 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) protein phosphatase binding (GO:0019903) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTTCGAAAACAAGCTAATGCT 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 59 61 60 NA NA 17 NA 45214564 2203 4300 6503 SO:0001583 missense U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 996 Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing 1728 protein-coding gene gene with protein product anaphase promoting complex subunit 3 116946 cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae) D0S1430E, D17S978E NA 8234252 Standard XM_005257892 NA Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000531206.1:c.1885T>A chr17.hg19:g.45214564A>T ENSP00000434614:p.Cys629Ser NA G3V1C4|Q16349|Q96F35 hg19 CCDS45720.1 0.02 17.838822 AACxAGC COVERED . . . . . . . . . . A 15.90 2.968854 0.53614 . . ENSG00000004897 ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547 T;T;T;T 0.36878 1.23;1.23;1.23;1.23 5.81 5.81 0.92471 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 T 0.42245 0.1194 L 0.33485 1.01 0.80722 D 1 D;P;P;P 0.55172 0.97;0.698;0.698;0.936 P;B;B;P 0.56751 0.805;0.112;0.112;0.491 T 0.12889 -1.0530 10 0.25751 T 0.34 -10.7595 14.1085 0.65107 1.0:0.0:0.0:0.0 . 562;622;629;623 B4DL80;G5EA36;G3V1C4;P30260 .;.;.;CDC27_HUMAN S 623;629;562;622 ENSP00000066544:C623S;ENSP00000434614:C629S;ENSP00000392802:C562S;ENSP00000437339:C622S ENSP00000066544:C623S C - 1 0 CDC27 42569563 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.529000 0.81952 2.228000 0.72767 0.477000 0.44152 TGT NOVEL CDC27-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389745.1 43 33.996649 KEEP 1 9 276 210 6361 AA 1 1 0 - 19 60 578 0 0 51.471685 36 60 1018 1252 ENST00000531206.1 0.345455 1 CDC27 996 __UNKNOWN__ __UNKNOWN__ 17 45234303 45234303 __UNKNOWN__ Missense_Mutation SNP G G C rs200611688 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:45234303G>C ENST00000531206.1 - 7 821 c.818C>G c.(817-819)gCa>gGa p.A273G CDC27_ENST00000066544.3_Missense_Mutation_p.A273G|CDC27_ENST00000446365.2_Missense_Mutation_p.A212G|CDC27_ENST00000527547.1_Missense_Mutation_p.A273G P30260 CDC27_HUMAN cell division cycle 27 273 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) protein phosphatase binding (GO:0019903) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 ACTAAGAGCTGCTGGTCCTCC 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 62 66 65 NA NA 17 NA 45234303 2201 4293 6494 SO:0001583 missense U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 996 Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing 1728 protein-coding gene gene with protein product anaphase promoting complex subunit 3 116946 cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae) D0S1430E, D17S978E NA 8234252 Standard XM_005257892 NA Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000531206.1:c.818C>G chr17.hg19:g.45234303G>C ENSP00000434614:p.Ala273Gly NA G3V1C4|Q16349|Q96F35 hg19 CCDS45720.1 0.02 12.965521 GCTxCTG COVERED . . . . . . . . . . G 15.95 2.983381 0.53827 . . ENSG00000004897 ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866 T;T;T;T;T 0.69175 -0.37;-0.38;-0.11;-0.36;0.76 5.64 5.64 0.86602 . 0.116892 0.56097 D 0.000021 T 0.54647 0.1871 L 0.29908 0.895 0.51233 D 0.999911 B;P;P;B 0.43094 0.304;0.629;0.799;0.304 B;B;B;B 0.36092 0.15;0.213;0.217;0.046 T 0.57911 -0.7729 10 0.40728 T 0.16 -26.4879 17.2083 0.86924 0.0:0.0:1.0:0.0 . 212;273;273;273 B4DL80;G5EA36;G3V1C4;P30260 .;.;.;CDC27_HUMAN G 273;273;212;273;273 ENSP00000066544:A273G;ENSP00000434614:A273G;ENSP00000392802:A212G;ENSP00000437339:A273G;ENSP00000432105:A273G ENSP00000066544:A273G A - 2 0 CDC27 42589302 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 9.260000 0.95568 2.665000 0.90641 0.460000 0.39030 GCA NOVEL CDC27-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389745.1 29 29.562306 KEEP 8 2 68 122 4315 GG 1 1 0 - 11 60 376 0 0 26.564322 117 60 4039 741 ENST00000531206.1 0.085937 1 NPEPPS 9520 __UNKNOWN__ __UNKNOWN__ 17 45608592 45608592 __UNKNOWN__ 5'UTR SNP G G T rs142358928 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:45608592G>T ENST00000322157.4 + 0 163 NPEPPS_ENST00000530173.1_Intron|NPEPPS_ENST00000525037.1_Intron NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 AGCCCCTAGCGCTCCGGCTGG 0.781 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant Y07701 CCDS45721.1 17q12-q21 2008-07-18 ENSG00000141279 ENSG00000141279 9520 3.4.11.2 7900 protein-coding gene gene with protein product puromycin-sensitive aminopeptidase, metalloproteinase MP100 606793 NA 9048733, 10329370 Standard NM_006310 NM_006310 NA Approved PSA, MP100 uc002ilr.4 P55786 OTTHUMG00000165471 ENST00000322157.4:c.-75G>T chr17.hg19:g.45608592G>T NA B7Z463|Q6P145|Q9NP16|Q9UEM2 hg19 CCDS45721.1 0.02 -0.201728 AGCxCTC COVERED NOVEL NPEPPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384269.1 0 3.008304 KEEP 6 0 0 10 312 GG 0.99254 0.486885 0 + 5 49 150 0 0 12.265867 17 60 566 60 ENST00000322157.4 0.227273 0.490544 NPEPPS 9520 __UNKNOWN__ __UNKNOWN__ 17 45664593 45664593 __UNKNOWN__ Intron SNP C C T rs140005328 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:45664593C>T ENST00000322157.4 + 9 1217 NPEPPS_ENST00000544660.1_Intron|NPEPPS_ENST00000530173.1_Intron|NPEPPS_ENST00000525037.1_Intron NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TTTTTAAACACAGGGAGACTG 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 31 26 27 NA NA 17 NA 45664593 1803 4076 5879 SO:0001627 intron_variant Y07701 CCDS45721.1 17q12-q21 2008-07-18 ENSG00000141279 ENSG00000141279 9520 3.4.11.2 7900 protein-coding gene gene with protein product puromycin-sensitive aminopeptidase, metalloproteinase MP100 606793 NA 9048733, 10329370 Standard NM_006310 NM_006310 NA Approved PSA, MP100 uc002ilr.4 P55786 OTTHUMG00000165471 ENST00000322157.4:c.981-3C>T chr17.hg19:g.45664593C>T NA B7Z463|Q6P145|Q9NP16|Q9UEM2 hg19 CCDS45721.1 0.02 2.725252 ACAxAGG COVERED NOVEL NPEPPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384269.1 9 15.559475 KEEP 1 1 29 62 2082 CC 1 0.999999 0 + 7 44 193 0 0 11.090828 113 60 3528 279 ENST00000322157.4 0.058333 0.999999 PSMD12 5718 __UNKNOWN__ __UNKNOWN__ 17 65341976 65341976 __UNKNOWN__ Intron SNP A A G rs62086002 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:65341976A>G ENST00000356126.3 - 8 903 PSMD12_ENST00000357146.4_Intron NM_002816.3 NP_002807.1 O00232 PSD12_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838) breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) TTCAGAGCCTAAAAGAGTTGT 0.343 NA NA A||| 991 0.197883 0.2685 0.1556 5008 , , NA 18107 0.1042 NA 0.2256 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 A , 1219,3187 397.2+/-330.3 165,889,1149 79 69 72 , 0.6 0.3 17 dbSNP_129 72 1827,6773 307.3+/-308.3 195,1437,2668 no intron,intron PSMD12 NM_002816.3,NM_174871.2 , 360,2326,3817 GG,GA,AA 21.2442,27.6668,23.42 , , 65341976 3046,9960 2203 4300 6503 SO:0001627 intron_variant AB003103 CCDS11669.1, CCDS11670.1 17q24.3 2008-05-22 ENSG00000197170 ENSG00000197170 5718 Proteasome (prosome, macropain) subunits 9557 protein-coding gene gene with protein product 604450 NA 9426256 Standard NM_002816, NM_174871 NM_002816 NA Approved p55, Rpn5 uc002jfy.3 O00232 OTTHUMG00000140376 ENST00000356126.3:c.796-3T>C chr17.hg19:g.65341976A>G NA A6NP15|Q53HA2|Q6P053 hg19 CCDS11669.1 0.02 -0.438518 CCTxAAA COVERED NOVEL PSMD12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277103.1 5 6.619396 KEEP 0 0 0 22 664 AA 0.999879 0.959743 0 - 4 60 137 1 0 9.557708 46 60 1364 101 ENST00000356126.3 0.08 0.959859 BPTF 2186 __UNKNOWN__ __UNKNOWN__ 17 65919027 65919027 __UNKNOWN__ Missense_Mutation SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:65919027C>G ENST00000306378.6 + 14 5689 c.5629C>G c.(5629-5631)Caa>Gaa p.Q1877E BPTF_ENST00000321892.4_Missense_Mutation_p.Q2003E|BPTF_ENST00000335221.5_Missense_Mutation_p.Q2003E|BPTF_ENST00000424123.3_Missense_Mutation_p.Q1864E NM_182641.3 NP_872579.2 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2003 NA anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589) sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AACGCCCAAGCAAACTGGCCC 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 125 115 119 NA NA 17 NA 65919027 2203 4300 6503 SO:0001583 missense AY282495 CCDS11673.1 17q24 2013-01-28 2006-12-01 2006-12-01 ENSG00000171634 ENSG00000171634 2186 Zinc fingers, PHD-type 3581 protein-coding gene gene with protein product 601819 fetal Alzheimer antigen FALZ NA 8975731, 10662542, 16728976 Standard NM_182641, NM_004459 NM_182641 NA Approved FAC1, NURF301 uc002jgf.3 Q12830 OTTHUMG00000132254 ENST00000306378.6:c.5629C>G chr17.hg19:g.65919027C>G ENSP00000307208:p.Gln1877Glu NA Q6NX67|Q7Z7D6|Q9UIG2 hg19 CCDS11673.1 0.02 4.067371 AAGxAAA COVERED . . . . . . . . . . C 21.4 4.150773 0.78001 . . ENSG00000171634 ENST00000306378;ENST00000335221;ENST00000321892 T;T;T 0.12361 2.69;2.69;2.69 5.25 5.25 0.73442 . . . . . T 0.28863 0.0716 L 0.36672 1.1 0.80722 D 1 D;D 0.58268 0.971;0.982 D;D 0.70227 0.956;0.968 T 0.00896 -1.1523 9 0.34782 T 0.22 -10.1816 18.9223 0.92530 0.0:1.0:0.0:0.0 . 1877;2003 Q12830-2;Q12830-4 .;. E 1877;2003;2003 ENSP00000307208:Q1877E;ENSP00000334351:Q2003E;ENSP00000315454:Q2003E ENSP00000307208:Q1877E Q + 1 0 BPTF 63349489 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 7.768000 0.85345 2.467000 0.83353 0.552000 0.68991 CAA NOVEL BPTF-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255334.2 2 15.049387 KEEP 0 0 0 50 1801 CC 1 0.999997 0 + 5 60 174 0 0 10.859021 110 60 3863 241 ENST00000306378.6 0.043478 0.999997 SLC16A6 9120 __UNKNOWN__ __UNKNOWN__ 17 66267752 66267752 __UNKNOWN__ Silent SNP G G A rs62087130 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:66267752G>A ENST00000327268.4 - 6 713 c.549C>T c.(547-549)ctC>ctT p.L183L SLC16A6_ENST00000580666.1_Silent_p.L183L|ARSG_ENST00000448504.2_Intron NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 183 NA monocarboxylic acid transport (GO:0015718) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293) large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) CCACGAAGAGGAGGCTGTATC 0.468 NA NA G||| 1 0.000199681 0 0 5008 , , NA 18076 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 G ,, 8,4398 14.3+/-33.2 0,8,2195 55 54 54 549,549, -3.8 1 17 dbSNP_129 54 63,8537 39.3+/-95.6 1,61,4238 yes coding-synonymous,coding-synonymous,intron SLC16A6,ARSG NM_001174166.1,NM_004694.4,NM_014960.3 ,, 1,69,6433 AA,AG,GG 0.7326,0.1816,0.5459 ,, 183/524,183/524, 66267752 71,12935 2203 4300 6503 SO:0001819 synonymous_variant U79745 CCDS11675.1 17q24.2 2013-07-18 2013-07-18 ENSG00000108932 ENSG00000108932 9120 Solute carriers 10927 protein-coding gene gene with protein product 603880 solute carrier family 16 (monocarboxylic acid transporters), member 6, solute carrier family 16, member 6 (monocarboxylic acid transporter 7) NA 9425115 Standard NM_004694 NM_004694 NA Approved MCT6, MCT7 uc002jgz.2 O15403 OTTHUMG00000179812 ENST00000327268.4:c.549C>T chr17.hg19:g.66267752G>A NA Q6P1X3 hg19 CCDS11675.1 0.02 1.467398 GAGxAGG COVERED NOVEL SLC16A6-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448323.1 4 8.125946 KEEP 1 0 0 27 919 GG 0.999957 0.99712 0 - 4 60 126 0 0 7.855734 66 60 2282 148 ENST00000327268.4 0.057143 0.997163 SRP68 6730 __UNKNOWN__ __UNKNOWN__ 17 74066447 74066447 __UNKNOWN__ Intron SNP T T A rs2443168 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:74066447T>A ENST00000539137.1 - 2 267 SRP68_ENST00000307877.2_Intron|SRP68_ENST00000355113.5_Intron NM_001260502.1 NP_001247431.1 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 ACATCTTGTATGTGATACTAA 0.378 NA NA T||| 2820 0.563099 0.944 0.5836 5008 , , NA 18965 0.4792 NA 0.3936 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 T 3747,659 764.8+/-413.3 1599,549,55 114 102 106 -4.3 0 17 dbSNP_100 106 3494,5106 510.2+/-377.4 710,2074,1516 no intron SRP68 NM_014230.2 2309,2623,1571 AA,AT,TT 40.6279,14.9569,44.3257 74066447 7241,5765 2203 4300 6503 SO:0001627 intron_variant AF195951 CCDS11738.1, CCDS58600.1, CCDS58601.1 17q25.1 2010-04-30 2002-08-29 ENSG00000167881 ENSG00000167881 6730 11302 protein-coding gene gene with protein product 604858 signal recognition particle 68kD NA 10618370 Standard NM_014230 NM_014230 NA Approved uc002jqk.2 Q9UHB9 ENST00000539137.1:c.251+11A>T chr17.hg19:g.74066447T>A NA B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2 hg19 CCDS58601.1 0.02 3.139747 GTAxGTG COVERED NOVEL SRP68-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000449491.1 19 30.688291 KEEP 0 0 0 102 3090 TT 1 1 0 - 6 60 189 0 0 11.238506 123 60 3627 305 ENST00000539137.1 0.046512 1 TMC8 147138 __UNKNOWN__ __UNKNOWN__ 17 76133746 76133746 __UNKNOWN__ Intron SNP A A G rs12449680 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:76133746A>G ENST00000318430.5 + 11 1625 TMC8_ENST00000589691.1_Intron NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 NA NA ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) receptor binding (GO:0005102) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) TAAGGGAAGGAAGGGCCGGGG 0.587 NA NA G||| 1883 0.375998 0.4697 0.4107 5008 , , NA 20852 0.3968 NA 0.2396 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 G 1333,1803 289,755,524 61 60 60 2.2 0 17 dbSNP_120 60 1615,5549 177,1261,2144 no intron TMC8 NM_152468.4 466,2016,2668 GG,GA,AA 22.5433,42.5064,28.6214 76133746 2948,7352 1568 3582 5150 SO:0001627 intron_variant AY057380 CCDS32749.1 17q25.3 2014-09-17 2005-11-10 2005-11-10 ENSG00000167895 ENSG00000167895 147138 20474 protein-coding gene gene with protein product 605829 epidermodysplasia verruciformis 2 EVER2 NA 12426567 Standard NM_152468 NA Approved EVIN2 uc002jup.2 Q8IU68 ENST00000318430.5:c.1252-52A>G chr17.hg19:g.76133746A>G NA Q2YDC0|Q8IWU7|Q8N358|Q8NF04 hg19 CCDS32749.1 0.02 -0.438559 AGGxAGG COVERED NOVEL TMC8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436900.3 3 6.016939 KEEP 0 0 0 20 601 AA 0.999863 0.959727 0 + 3 60 104 0 0 6.905526 47 60 1461 90 ENST00000318430.5 0.06 0.959859 CCDC40 55036 __UNKNOWN__ __UNKNOWN__ 17 78064092 78064092 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr17:78064092G>A ENST00000397545.4 + 17 2859 CCDC40_ENST00000573903.1_Intron|CCDC40_ENST00000374877.3_Missense_Mutation_p.R996H NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 NA NA axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356) cilium (GO:0005929)|cytoplasm (GO:0005737) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) cacgggacgcgcgcaggcacg 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046860 CCDS42395.1, CCDS58604.1 17q25.3 2013-11-15 ENSG00000141519 ENSG00000141519 55036 26090 protein-coding gene gene with protein product 613799 NA 21131974 Standard XM_371082 NM_017950 NA Approved FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172 uc010dht.3 Q4G0X9 OTTHUMG00000132707 ENST00000397545.4:c.2832+409G>A chr17.hg19:g.78064092G>A NA A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5 hg19 CCDS42395.1 0.02 6.699078 CGCxCGC COVERED . . . . . . . . . . a 3.926 -0.017051 0.07681 . . ENSG00000141519 ENST00000374877 T 0.53857 0.6 . . . . . . . . T 0.35248 0.0925 . . . 0.09310 N 1 . . . . . . T 0.27571 -1.0070 4 0.45353 T 0.12 . . . . . . . . H 996 ENSP00000364011:R996H ENSP00000364011:R996H R + 2 0 CCDC40 75678687 0.020000 0.18652 0.020000 0.16555 0.020000 0.10135 -2.066000 0.01385 -2.068000 0.00884 -2.092000 0.00371 CGC NOVEL CCDC40-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256005.2 3 6.929632 KEEP 47 8 229 104 3459 GG 1 1 0 + 17 50 487 0 0 29.416291 249 60 8307 601 ENST00000397545.4 0.06391 1 ADCYAP1 116 __UNKNOWN__ __UNKNOWN__ 18 910635 910635 __UNKNOWN__ 3'UTR SNP A A G rs1610037 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:910635A>G ENST00000579794.1 + 0 1808 NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) NA NA activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195) neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057) endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 TCCAGTCCCAATGGTCCTGAC 0.517 NA NA A||| 1152 0.230032 0.1006 0.2478 5008 , , NA 20032 0.2014 NA 0.338 False NA ,,, NA NA NA 2504 0.3108 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant S83513 CCDS11825.1 18p11 2013-02-28 ENSG00000141433 ENSG00000141433 116 Endogenous ligands 241 protein-coding gene gene with protein product prepro-PACAP 102980 NA 1730060 Standard NM_001117 NM_001099733 NA Approved PACAP uc010dkh.4 P18509 OTTHUMG00000131479 ENST00000579794.1:c.*999A>G chr18.hg19:g.910635A>G NA B2R7N4|Q52LQ0 hg19 CCDS11825.1 0.02 1.997119 CCAxTGG COVERED NOVEL ADCYAP1-003 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440765.3 6 8.124169 KEEP 0 0 0 27 843 AA 0.999988 0.979514 0 + 7 60 235 0 0 17.680071 49 60 1495 104 ENST00000579794.1 0.125 0.979526 LAMA1 284217 __UNKNOWN__ __UNKNOWN__ 18 7017322 7017322 __UNKNOWN__ Silent SNP A A G rs539713 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:7017322A>G ENST00000389658.3 - 20 2856 c.2763T>C c.(2761-2763)tgT>tgC p.C921C NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 921 Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}. NA axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304) basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) GTTTGCAGTCACAGAGCCCGG 0.488 NA NA A||| 2742 0.547524 0.9168 0.4135 5008 , , NA 19361 0.2262 NA 0.5368 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 A 3707,699 760.4+/-413.0 1563,581,59 168 126 140 2763 -5 0.5 18 dbSNP_83 140 4601,3999 598.7+/-394.0 1254,2093,953 no coding-synonymous LAMA1 NM_005559.3 2817,2674,1012 GG,GA,AA 46.5,15.8647,36.1218 921/3076 7017322 8308,4698 2203 4300 6503 SO:0001819 synonymous_variant X58531 CCDS32787.1 18p11.3 2013-03-01 ENSG00000101680 ENSG00000101680 284217 Laminins 6481 protein-coding gene gene with protein product 150320 LAMA NA 2591971 Standard NM_005559 NM_005559 NA Approved uc002knm.3 P25391 OTTHUMG00000133478 ENST00000389658.3:c.2763T>C chr18.hg19:g.7017322A>G NA hg19 CCDS32787.1 0.02 -0.350775 GTCxCAG COVERED NOVEL LAMA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257369.1 4 5.715859 KEEP 0 0 0 19 559 AA 0.99986 0.877585 0 - 3 60 104 0 0 7.275355 35 60 1038 82 ENST00000389658.3 0.078947 0.877708 CHMP1B 57132 __UNKNOWN__ __UNKNOWN__ 18 11854104 11854104 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:11854104A>G ENST00000526991.2 + 0 2710 GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|CHMP1B_ENST00000588284.1_3'UTR|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000269162.5_Intron NM_020412.4 NP_065145.2 Q7LBR1 CHM1B_HUMAN charged multivesicular body protein 1B NA NA cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) protein domain specific binding (GO:0019904) endometrium(1)|lung(1)|urinary_tract(1) 3 gattacaggcatgagccactg 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF306520 CCDS54180.1 18p11.21 2011-09-21 2011-09-21 ENSG00000255112 ENSG00000255112 57132 Charged multivesicular body proteins 24287 protein-coding gene gene with protein product 606486 chromatin modifying protein 1B NA 15537668 Standard NM_020412 NM_020412 NA Approved CHMP1.5, C18orf2, Vps46B uc002kqe.3 Q7LBR1 OTTHUMG00000165820 ENST00000526991.2:c.*1994A>G chr18.hg19:g.11854104A>G NA Q96E89|Q9HD41 hg19 CCDS54180.1 0.02 1.962029 GGCxTGA COVERED NOVEL CHMP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386375.2 13 3.444667 KEEP 1 1 36 24 726 AA 0.999909 0.987854 0 + 4 60 133 0 0 8.95401 52 60 1534 106 ENST00000526991.2 0.071429 0.987943 ANKRD62 342850 __UNKNOWN__ __UNKNOWN__ 18 12122470 12122470 __UNKNOWN__ Missense_Mutation SNP C C T rs74988693 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:12122470C>T ENST00000587848.2 + 11 1574 c.1409C>T c.(1408-1410)tCa>tTa p.S470L ANKRD62_ENST00000418274.2_3'UTR|ANKRD62_ENST00000314074.8_Missense_Mutation_p.S456L A6NC57 ANR62_HUMAN ankyrin repeat domain 62 470 NA breast(2)|haematopoietic_and_lymphoid_tissue(1) 3 AAATCACAGTCAGAGCATCAG 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BX648696 CCDS67439.1 18p11.21 2014-01-21 ENSG00000181626 ENSG00000181626 342850 Ankyrin repeat domain containing 35241 protein-coding gene gene with protein product NA NA Standard XM_001715728 XM_003959949 NA Approved DKFZp779B1634 uc031rhk.1 A6NC57 OTTHUMG00000180673 ENST00000587848.2:c.1409C>T chr18.hg19:g.12122470C>T ENSP00000467740:p.Ser470Leu NA hg19 0.02 -0.377213 AGTxAGA COVERED . . . . . . . . . . C 0.007 -1.935910 0.00484 . . ENSG00000181626 ENST00000314074;ENST00000418274 T;T 0.10099 2.91;2.91 1.74 0.505 0.16953 . . . . . T 0.01592 0.0051 N 0.00112 -2.095 0.19775 N 0.999952 B 0.02656 0.0 B 0.01281 0.0 T 0.44605 -0.9317 9 0.02654 T 1 . 5.4769 0.16700 0.0:0.1674:0.0:0.8326 . 470 A6NC57 ANR62_HUMAN L 456;192 ENSP00000326572:S456L;ENSP00000405628:S192L ENSP00000326572:S456L S + 2 0 ANKRD62 12112470 1.000000 0.71417 0.396000 0.26296 0.005000 0.04900 2.327000 0.43858 0.092000 0.17331 -1.280000 0.01385 TCA NOVEL ANKRD62-003 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000452521.2 2 3.446541 KEEP 0 1 33 23 810 CC 0.999909 0.908987 0 + 5 60 141 0 0 9.832991 37 60 1289 97 ENST00000587848.2 0.119048 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 14392844 14392844 __UNKNOWN__ IGR SNP C C G rs200563073 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:14392844C>G NA NA CYP4F35P (50321 upstream) : CXADRP3 (85109 downstream) NA NA NA GCGCCTCCAGCTCCTCGGTGG 0.612 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr18.hg19:g.14392844C>G NA hg19 0.02 -0.228086 CAGxTCC COVERED NOVEL 0 2 3.310896 KEEP 0 0 0 11 400 CC 0.993072 0.578892 0 5 49 179 0 0 14.758379 21 60 729 57 0.192308 0.58293 TMEM241 85019 __UNKNOWN__ __UNKNOWN__ 18 20876023 20876023 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:20876023T>C ENST00000383233.3 - 0 2891 TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000475185.1_5'UTR NM_032933.4 NP_116322.3 Q24JQ0 TM241_HUMAN transmembrane protein 241 NA NA integral component of membrane (GO:0016021) NA cacatggacatagggagggga 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC082984 CCDS11876.2 18q11.2 2011-11-25 2011-11-25 2011-11-25 ENSG00000134490 ENSG00000134490 85019 31723 protein-coding gene gene with protein product 615430 chromosome 18 open reading frame 45 C18orf45 NA 12477932 Standard NM_032933 NM_032933 NA Approved MGC11386, FLJ44259 uc002kuf.3 Q24JQ0 OTTHUMG00000131771 ENST00000383233.3:c.*1948A>G chr18.hg19:g.20876023T>C NA I0J130|Q6ZTS7|Q6ZW41 hg19 CCDS11876.2 0.02 3.967958 ACAxAGG COVERED NOVEL TMEM241-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254702.3 18 2.878765 KEEP 0 5 176 71 2098 TT 1 0.999997 0 - 7 60 244 0 0 16.636985 96 60 2811 267 ENST00000383233.3 0.067961 0.999997 DSG4 147409 __UNKNOWN__ __UNKNOWN__ 18 28956808 28956808 __UNKNOWN__ 5'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:28956808C>T ENST00000308128.4 + 0 69 RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA NM_177986.3 NP_817123.1 Q86SJ6 DSG4_HUMAN desmoglein 4 NA NA anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337) desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GAGCAGAATTCGGAACTGAGA 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 71 63 65 NA NA 18 NA 28956808 692 1591 2283 SO:0001623 5_prime_UTR_variant AY177664, AY168788 CCDS11897.1, CCDS45845.1 18q12.1 2010-01-26 ENSG00000175065 ENSG00000175065 147409 Cadherins / Major cadherins 21307 protein-coding gene gene with protein product 607892 NA 12648213 Standard NM_177986 NM_001134453 NA Approved CDHF13, LAH uc002kwq.2 Q86SJ6 OTTHUMG00000131979 ENST00000308128.4:c.-67C>T chr18.hg19:g.28956808C>T NA A2RUI1|Q6Y9L9|Q8IXV4 hg19 CCDS11897.1 0.02 2.446728 ATTxGGA COVERED NOVEL DSG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254941.1 7 18.590629 KEEP 0 1 29 72 2391 CC 1 1 0 + 6 60 176 0 0 9.963394 122 60 4005 287 ENST00000308128.4 0.046875 1 ZNF24 7572 __UNKNOWN__ __UNKNOWN__ 18 32916219 32916219 __UNKNOWN__ 3'UTR SNP A A G rs7239712 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:32916219A>G ENST00000589881.1 - 0 3390 ZNF24_ENST00000399061.3_3'UTR|ZNF24_ENST00000261332.6_3'UTR P17028 ZNF24_HUMAN zinc finger protein 24 NA NA myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 15 TTTGTACCAAAGGAATAAAAA 0.368 NA NA A||| 1345 0.26857 0.2481 0.3343 5008 , , NA 18370 0.1657 NA 0.3479 False NA ,,, NA NA NA 2504 0.274 NA NA NA Colon(42;769 913 8916 19469 46270) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF016052 CCDS11912.1 18q12 2013-01-09 2006-05-10 ENSG00000172466 ENSG00000172466 7572 -, Zinc fingers, C2H2-type 13032 protein-coding gene gene with protein product 194534 zinc finger protein 24 (KOX 17) ZNF191 NA Standard NM_006965 NM_006965 NA Approved ZSCAN3, Zfp191, KOX17 uc002kys.2 P17028 OTTHUMG00000132565 ENST00000589881.1:c.*2805T>C chr18.hg19:g.32916219A>G NA O14754|Q53YE4|Q6ICR5|Q8IZN4 hg19 0.02 1.792179 CAAxGGA COVERED NOVEL ZNF24-003 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000442598.2 2 7.519626 KEEP 0 0 0 25 772 AA 0.999931 0.995618 0 - 4 60 136 0 0 8.905426 64 60 1951 126 ENST00000589881.1 0.058824 0.995687 RPRD1A 55197 __UNKNOWN__ __UNKNOWN__ 18 33570611 33570611 __UNKNOWN__ 3'UTR SNP G G A rs4799407 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:33570611G>A ENST00000399022.4 - 0 3613 RPRD1A_ENST00000337059.5_Intron|RPRD1A_ENST00000590898.1_Intron|RPRD1A_ENST00000357384.4_Intron NM_018170.3 NP_060640.2 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 1A NA NA dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940) DNA-directed RNA polymerase II, holoenzyme (GO:0016591) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2) 12 GCAGCCCTACGGCACCATGCT 0.483 NA NA G||| 652 0.130192 0.0076 0.1081 5008 , , NA 18878 0.2431 NA 0.1322 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF419845 CCDS11917.1 18q12.2 2012-02-09 2008-08-15 ENSG00000141425 ENSG00000141425 55197 25560 protein-coding gene gene with protein product cyclin-dependent kinase 2B-inhibitor-related protein, Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein) 610347 NA 12470661, 22231121 Standard NM_018170 NM_018170 NA Approved P15RS, FLJ10656, HsT3101 uc002kzg.3 Q96P16 OTTHUMG00000132591 ENST00000399022.4:c.*2503C>T chr18.hg19:g.33570611G>A NA A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4 hg19 CCDS11917.1 0.02 1.427272 TACxGCA COVERED NOVEL RPRD1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255802.1 1 6.017244 KEEP 0 0 0 20 634 GG 0.999863 0.970687 0 - 4 60 122 0 0 7.954907 49 60 1644 100 ENST00000399022.4 0.075472 0.97082 SKA1 220134 __UNKNOWN__ __UNKNOWN__ 18 47919019 47919019 __UNKNOWN__ 3'UTR SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:47919019T>G ENST00000285116.3 + 0 1381 NM_001039535.2|NM_145060.3 NP_001034624.1|NP_659497.1 Q96BD8 SKA1_HUMAN spindle and kinetochore associated complex subunit 1 NA NA cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110) condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876) microtubule binding (GO:0008017) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 gattacaggcttgagccacca 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015706 CCDS11946.1 18q21.1 2013-01-17 2009-08-19 2009-08-19 ENSG00000154839 ENSG00000154839 220134 28109 protein-coding gene gene with protein product NA chromosome 18 open reading frame 24 C18orf24 NA 17093495 Standard NM_145060 NM_145060 NA Approved MGC10200 uc002leu.3 Q96BD8 OTTHUMG00000132685 ENST00000285116.3:c.*402T>G chr18.hg19:g.47919019T>G NA B2R9Y6|B4E0P4 hg19 CCDS11946.1 0.02 1.783377 GGCxTGA COVERED NOVEL SKA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255982.2 20 7.957665 KEEP 0 1 27 36 1160 TT 1 0.996724 0 + 4 60 137 0 0 9.005252 64 60 2008 159 ENST00000285116.3 0.058824 0.996724 DYNAP 284254 __UNKNOWN__ __UNKNOWN__ 18 52258548 52258548 __UNKNOWN__ Missense_Mutation SNP T T C rs35428499 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:52258548T>C ENST00000585973.1 + 2 213 c.122T>C c.(121-123)gTt>gCt p.V41A DYNAP_ENST00000321600.1_Missense_Mutation_p.V38A Q8N1N2 DYNAP_HUMAN dynactin associated protein 86 NA activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA ATATTGAACGTTGAGCACTCT 0.368 NA NA T||| 584 0.116613 0.1483 0.0865 5008 , , NA 15927 0.0288 NA 0.1551 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 T ALA/VAL 679,3727 48,583,1572 146 144 145 113 -1.3 0 18 dbSNP_126 145 1300,7300 101,1098,3101 yes missense C18orf26 NM_173629.1 64 149,1681,4673 CC,CT,TT 15.1163,15.4108,15.2161 possibly-damaging 38/211 52258548 1979,11027 2203 4300 6503 SO:0001583 missense AK096425 CCDS11957.1 18q21.2 2012-10-24 2012-10-24 2012-10-24 ENSG00000178690 ENSG00000178690 284254 26808 protein-coding gene gene with protein product NA chromosome 18 open reading frame 26 C18orf26 NA 20978158 Standard NM_173629 NM_173629 NA Approved FLJ39106 uc002lfq.1 Q8N1N2 OTTHUMG00000132709 ENST00000585973.1:c.122T>C chr18.hg19:g.52258548T>C ENSP00000466577:p.Val41Ala NA hg19 0.02 1.634289 ACGxTGA COVERED 245 0.11217948717948718 67 0.13617886178861788 42 0.11602209944751381 15 0.026223776223776224 121 0.15963060686015831 . 3.925 -0.017299 0.07681 0.154108 0.151163 ENSG00000178690 ENST00000321600 T 0.21191 2.02 5.21 -1.32 0.09201 . 1.146150 0.06450 N 0.727527 T 0.00039 0.0001 N 0.04959 -0.14 0.80722 P 0.0 B 0.23891 0.093 B 0.27170 0.077 T 0.38672 -0.9650 9 0.66056 D 0.02 -0.8943 9.2704 0.37668 0.0:0.4461:0.0:0.5539 rs35428499;rs35428499 38 Q8N1N2 CR026_HUMAN A 38 ENSP00000315265:V38A ENSP00000315265:V38A V + 2 0 C18orf26 50409546 0.000000 0.05858 0.003000 0.11579 0.012000 0.07955 -0.159000 0.10056 -0.133000 0.11537 0.496000 0.49642 GTT NOVEL DYNAP-002 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000448062.1 5 16.249234 KEEP 0 0 0 54 1713 TT 1 0.999678 0 + 4 60 138 0 0 8.708356 81 60 2502 198 ENST00000585973.1 0.047059 0.999678 LMAN1 3998 __UNKNOWN__ __UNKNOWN__ 18 56995396 56995396 __UNKNOWN__ 3'UTR SNP A A G rs4806 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:56995396A>G ENST00000251047.5 - 0 5179 NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 NA NA blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017) mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) GTTCTTTACAAAAATTGTATC 0.333 NA NA A||| 1633 0.326078 0.1778 0.3775 5008 , , NA 19949 0.504 NA 0.2952 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X71661 CCDS11974.1 18q21.3-q22 2014-09-17 2002-08-30 ENSG00000074695 ENSG00000074695 3998 6631 protein-coding gene gene with protein product endoplasmic reticulum-golgi intermediate compartment protein 53 601567 coagulation factor V-factor VIII combined deficiency F5F8D NA 9546392, 8854877 Standard NM_005570 NM_005570 NA Approved MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1 uc002lhz.3 P49257 OTTHUMG00000132758 ENST00000251047.5:c.*2929T>C chr18.hg19:g.56995396A>G NA Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2 hg19 CCDS11974.1 0.02 1.979549 ACAxAAA COVERED NOVEL LMAN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256129.2 3 10.229129 KEEP 0 0 0 34 1041 AA 0.999998 0.984159 0 - 4 60 139 0 0 9.553171 52 60 1588 131 ENST00000251047.5 0.071429 0.984161 RNF152 220441 __UNKNOWN__ __UNKNOWN__ 18 59482280 59482280 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:59482280T>C ENST00000312828.3 - 0 2516 NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 NA NA apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936) integral component of membrane (GO:0016021)|lysosome (GO:0005764) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) cacacacacatacacacacaa 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096495 CCDS11978.1 18q21.33 2013-01-09 ENSG00000176641 ENSG00000176641 220441 RING-type (C3HC4) zinc fingers 26811 protein-coding gene gene with protein product NA NA Standard NM_173557 XM_005266650 NA Approved FLJ39176 uc002lih.1 Q8N8N0 OTTHUMG00000132774 ENST00000312828.3:c.*805A>G chr18.hg19:g.59482280T>C NA B3KV99|Q52LA4 hg19 CCDS11978.1 0.02 1.646414 ACAxACA COVERED NOVEL RNF152-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256180.1 17 2.576455 KEEP 0 2 73 34 995 TT 0.999999 0.999939 0 - 4 60 140 0 0 8.806359 86 60 2475 186 ENST00000312828.3 0.044444 0.99994 HMSD 284293 __UNKNOWN__ __UNKNOWN__ 18 61621805 61621805 __UNKNOWN__ Intron SNP G G C rs8089648 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:61621805G>C ENST00000408945.3 + 3 424 HMSD_ENST00000481726.1_Intron|HMSD_ENST00000526932.1_Intron NM_001123366.1 NP_001116838.1 A8MTL9 HMSD_HUMAN histocompatibility (minor) serpin domain containing NA NA extracellular space (GO:0005615) serine-type endopeptidase inhibitor activity (GO:0004867) kidney(1)|large_intestine(2)|lung(2)|stomach(1) 6 AGTCATACTTGTTTATTAGGA 0.413 NA NA G||| 201 0.0401358 0.0726 0.0389 5008 , , NA 19508 0 NA 0.0646 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 G 223,2913 6,211,1351 95 90 91 -4.4 0 18 dbSNP_116 91 360,6804 8,344,3230 no intron HMSD NM_001123366.1 14,555,4581 CC,CG,GG 5.0251,7.111,5.6602 61621805 583,9717 1568 3582 5150 SO:0001627 intron_variant AC009802 CCDS42441.1 18q21.33 2008-02-04 ENSG00000221887 ENSG00000221887 284293 23037 protein-coding gene gene with protein product 612086 C18orf53 NA 17409267 Standard XM_209104 NM_001123366 NA Approved ACC-6 uc010dqj.3 A8MTL9 OTTHUMG00000060593 ENST00000408945.3:c.222+14G>C chr18.hg19:g.61621805G>C NA hg19 CCDS42441.1 0.02 -0.438614 CTTxTTT COVERED NOVEL HMSD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134010.2 3 9.631089 KEEP 0 0 0 32 1129 GG 0.999997 0.959856 0 + 3 60 99 1 0 6.406417 47 60 1589 106 ENST00000408945.3 0.06 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 63550737 63550737 __UNKNOWN__ IGR SNP A A G rs12967121 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:63550737A>G NA NA CDH7 (2099 upstream) : RP11-389J22.3 (34280 downstream) NA NA NA TCCAAATATGatttaaataaa 0.279 NA NA A||| 2819 0.562899 0.1195 0.6744 5008 , , NA 11953 0.9196 NA 0.6451 False NA ,,, NA NA NA 2504 0.6309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr18.hg19:g.63550737A>G NA hg19 0.02 -0.254262 ATGxTTT COVERED NOVEL 0 3 4.512583 KEEP 0 0 0 15 451 AA 0.99649 0.666177 0 4 60 125 0 0 9.424366 24 60 663 52 0.142857 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 63551080 63551080 __UNKNOWN__ IGR SNP A A T rs2628213 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:63551080A>T NA NA CDH7 (2442 upstream) : RP11-389J22.3 (33937 downstream) NA NA NA CTACTAAATAACAATGTATGT 0.274 NA NA T||| 4038 0.80631 0.6997 0.8458 5008 , , NA 15060 0.9623 NA 0.7465 False NA ,,, NA NA NA 2504 0.8231 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr18.hg19:g.63551080A>T NA hg19 0.02 -0.263129 ATAxCAA COVERED NOVEL 0 1 4.81369 KEEP 0 0 0 16 493 AA 0.997832 0.692164 0 4 60 107 0 0 7.497384 26 60 818 67 0.133333 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 63551127 63551127 __UNKNOWN__ IGR SNP T T C rs2587422 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:63551127T>C NA NA CDH7 (2489 upstream) : RP11-389J22.3 (33890 downstream) NA NA NA TTGGAGCTACTTGTAGACAGG 0.303 NA NA T||| 3584 0.715655 0.5651 0.768 5008 , , NA 15754 0.9494 NA 0.7107 False NA ,,, NA NA NA 2504 0.6462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr18.hg19:g.63551127T>C NA hg19 0.02 -0.324544 TACxTGT COVERED NOVEL 0 1 5.717163 KEEP 0 0 0 19 612 TT 0.99986 0.835599 0 3 60 97 0 0 6.612115 34 60 1065 87 0.081081 0.835716 CDH19 28513 __UNKNOWN__ __UNKNOWN__ 18 64170983 64170983 __UNKNOWN__ 3'UTR SNP T T G rs7244993 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:64170983T>G ENST00000262150.2 - 0 3677 NM_021153.3 NP_066976.1 Q96JQ0 PCD16_HUMAN cadherin 19, type 2 NA NA branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342) apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) AAATTTATACTATATAACTCT 0.229 NA NA T||| 2022 0.403754 0.6732 0.2435 5008 , , NA 13252 0.3819 NA 0.2296 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ007607 CCDS11994.1, CCDS59325.1 18q22.1 2010-01-26 ENSG00000071991 ENSG00000071991 28513 Cadherins / Major cadherins 1758 protein-coding gene gene with protein product 603016 NA 10995570 Standard NM_021153 NM_021153 NA Approved CDH7 uc002lkc.2 Q9H159 OTTHUMG00000132802 ENST00000262150.2:c.*1066A>C chr18.hg19:g.64170983T>G NA O15098 hg19 CCDS11994.1 0.02 -0.263042 TACxATA COVERED NOVEL CDH19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256219.1 1 3.008772 KEEP 0 0 0 10 311 TT 0.992708 0.68861 0 - 3 60 97 0 0 6.944914 26 60 742 46 ENST00000262150.2 0.103448 0.693668 CD226 10666 __UNKNOWN__ __UNKNOWN__ 18 67531026 67531026 __UNKNOWN__ 3'UTR SNP C C A rs34794968 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:67531026C>A ENST00000280200.4 - 0 1803 CD226_ENST00000581982.1_3'UTR NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule NA NA cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TCCATCCTTTCTGGTCATGTT 0.388 NA NA C||| 1672 0.333866 0.3033 0.3271 5008 , , NA 21377 0.2589 NA 0.3817 False NA ,,, NA NA NA 2504 0.408 NA NA NA NSCLC(184;838 2130 8673 21498 50749) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U56102 CCDS11997.1 18q22.3 2013-01-11 2006-03-28 ENSG00000150637 ENSG00000150637 10666 CD molecules, Immunoglobulin superfamily / V-set domain containing 16961 protein-coding gene gene with protein product 605397 CD226 antigen NA 8673704 Standard NM_006566 NM_006566 NA Approved DNAM-1, DNAM1, PTA1, TLiSA1 uc002lkm.4 Q15762 OTTHUMG00000132809 ENST00000280200.4:c.*524G>T chr18.hg19:g.67531026C>A NA B2R818 hg19 CCDS11997.1 0.02 1.534966 TTTxTGG COVERED NOVEL CD226-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256226.3 3 4.815396 KEEP 0 0 0 16 557 CC 0.997832 0.965327 0 - 5 60 137 0 0 8.947327 47 60 1635 89 ENST00000280200.4 0.096154 0.967425 RP11-795F19.5 0 __UNKNOWN__ __UNKNOWN__ 18 77807211 77807211 __UNKNOWN__ Intron SNP C C T rs72972292 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr18:77807211C>T ENST00000569722.1 + 1 308 RP11-795F19.5_ENST00000564012.1_Intron NA NA NA CAGGTGCCCACGGTGCAGGAG 0.582 NA NA C||| 1514 0.302316 0.059 0.3026 5008 , , NA 21602 0.4385 NA 0.4692 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000569722.1:c.158+12558C>T chr18.hg19:g.77807211C>T NA hg19 0.02 1.280669 CCAxGGT COVERED NOVEL RP11-795F19.5-001 KNOWN basic|appris_candidate_longest|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000451048.1 4 7.656891 KEEP 0 1 30 36 1193 CC 1 0.999317 0 + 7 60 193 0 0 12.308068 74 60 2467 161 ENST00000569722.1 0.08642 0.999317 TMEM259 91304 __UNKNOWN__ __UNKNOWN__ 19 1011564 1011564 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:1011564G>A ENST00000356663.3 - 8 1206 TMEM259_ENST00000333175.5_Intron NM_001033026.1 NP_001028198.1 Q4ZIN3 MBRL_HUMAN transmembrane protein 259 NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) NA gggggaggccgggtggggTCC 0.697 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 9 11 10 NA NA 19 NA 1011564 1727 3394 5121 SO:0001627 intron_variant BC008957 CCDS12052.1, CCDS32862.1 19p13.3 2013-02-06 2013-02-06 2013-02-06 ENSG00000182087 ENSG00000182087 91304 17039 protein-coding gene gene with protein product membralin, aspecific BCL2 ARE-binding protein 1 611011 chromosome 19 open reading frame 6 C19orf6 NA 12638133, 16084606 Standard NM_033420 XM_005259675 NA Approved MGC4022, ASBABP1, MBRL uc002lqr.1 Q4ZIN3 ENST00000356663.3:c.1084+14C>T chr19.hg19:g.1011564G>A NA O60392|Q8NF79|Q96H30 hg19 CCDS32862.1 0.02 -0.429775 GCCxGGT COVERED NOVEL TMEM259-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000458236.1 2 13.839093 KEEP 0 0 0 46 1447 GG 1 0.959859 0 - 4 60 113 0 0 7.237393 44 60 1445 123 ENST00000356663.3 0.083333 0.959859 GNG7 2788 __UNKNOWN__ __UNKNOWN__ 19 2642750 2642750 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:2642750T>C ENST00000382159.3 - 2 121 CTC-265F19.1_ENST00000587894.1_RNA NM_052847.2 NP_443079.1 O60262 GBG7_HUMAN guanine nucleotide binding protein (G protein), gamma 7 NA NA behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) central_nervous_system(2)|large_intestine(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ccttggcctctcaaagtgctg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB010414 CCDS12091.1 19p13.3 2010-02-17 ENSG00000176533 ENSG00000176533 2788 4410 protein-coding gene gene with protein product 604430 NA 9600093 Standard NM_052847 NM_052847 NA Approved FLJ00058 uc002lwd.2 O60262 ENST00000382159.3:c.76+3471A>G chr19.hg19:g.2642750T>C NA B2R496 hg19 CCDS12091.1 0.02 1.769082 CTCxCAA COVERED NOVEL GNG7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451345.1 16 8.626187 KEEP 1 3 92 61 1855 TT 1 0.999407 0 - 4 60 141 0 0 9.182977 73 60 2179 191 ENST00000382159.3 0.051948 0.999407 HSD11B1L 374875 __UNKNOWN__ __UNKNOWN__ 19 5684307 5684307 __UNKNOWN__ 5'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:5684307A>G ENST00000581521.1 + 0 407 HSD11B1L_ENST00000577917.1_Intron|HSD11B1L_ENST00000422535.2_Intron|HSD11B1L_ENST00000301382.4_Intron|HSD11B1L_ENST00000577701.1_Intron|RPL36_ENST00000579649.1_Intron|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000339423.2_Intron|HSD11B1L_ENST00000423665.2_Intron|HSD11B1L_ENST00000583928.1_Intron|HSD11B1L_ENST00000581773.1_Intron|HSD11B1L_ENST00000342970.2_Intron|HSD11B1L_ENST00000411793.2_Intron|HSD11B1L_ENST00000581893.1_Intron Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like NA NA extracellular region (GO:0005576) oxidoreductase activity (GO:0016491) NA gattccaggcatgagccacca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY268353 CCDS12144.1, CCDS12145.1, CCDS12146.1, CCDS45931.1, CCDS45932.1, CCDS58641.1, CCDS58642.1, CCDS74266.1 19p13.3 2011-09-20 ENSG00000167733 374875 1.1.1.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 30419 protein-coding gene gene with protein product short chain dehydrogenase/reductase 10, short chain dehydrogenase/reductase family 26C, member 2 NA NA 12477932 Standard NM_198706 NM_001267868 NA Approved SCDR10, SDR26C2 uc010dug.4 Q7Z5J1 ENST00000581521.1:c.-69A>G chr19.hg19:g.5684307A>G NA Q05D45|Q52LF4|Q7Z5I9|Q7Z5J0|Q7Z5P5|Q7Z5P6|Q7Z5P7|Q7Z5P8 hg19 CCDS12145.1 0.02 3.93314 GGCxTGA COVERED NOVEL HSD11B1L-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442581.1 25 9.629509 KEEP 0 3 97 66 1999 AA 1 0.999998 0 + 5 60 174 1 0 10.978729 104 60 3101 260 ENST00000581521.1 0.045872 0.999998 LRRC8E 80131 __UNKNOWN__ __UNKNOWN__ 19 7963512 7963512 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:7963512A>G ENST00000306708.6 + 3 239 NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E NA NA ion transport (GO:0006811) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 ccaaagtgctaggattacagC 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 108 113 111 NA NA 19 NA 7963512 2203 4300 6503 SO:0001627 intron_variant CCDS12189.1 19p13.2 2008-02-05 ENSG00000171017 80131 26272 protein-coding gene gene with protein product 612891 NA 12477932 Standard NM_025061 NM_025061 NA Approved FLJ23420 uc002mir.3 Q6NSJ5 ENST00000306708.6:c.139-34A>G chr19.hg19:g.7963512A>G NA B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8 hg19 CCDS12189.1 0.02 1.651828 GCTxGGA COVERED NOVEL LRRC8E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461354.1 16 3.780839 KEEP 0 2 70 37 1131 AA 1 0.999559 0 + 7 60 242 0 0 17.356354 70 60 2117 168 ENST00000306708.6 0.090909 0.999559 ZNF561 93134 __UNKNOWN__ __UNKNOWN__ 19 9728318 9728318 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:9728318A>G ENST00000424629.1 - 3 198 ZNF561_ENST00000354661.4_Intron|ZNF561_ENST00000495503.1_Intron|ZNF561_ENST00000302851.3_Intron|ZNF561_ENST00000326044.5_Intron Q8N587 ZN561_HUMAN zinc finger protein 561 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 gagtagctggaattacaggca 0.537 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074787 CCDS12216.2 19p13.2 2013-09-20 ENSG00000171469 ENSG00000171469 93134 Zinc fingers, C2H2-type, - 28684 protein-coding gene gene with protein product NA NA 12477932 Standard NM_152289 NM_152289 NA Approved MGC45408 uc002mlu.3 Q8N587 OTTHUMG00000157054 ENST00000424629.1:c.93-471T>C chr19.hg19:g.9728318A>G NA B4E2Q8|Q6PJS0 hg19 0.02 1.871083 TGGxATT COVERED NOVEL ZNF561-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000347358.1 9 2.842705 KEEP 0 1 36 22 679 AA 0.999892 0.986047 0 - 6 60 201 0 0 14.784987 48 60 1486 107 ENST00000424629.1 0.111111 0.986153 C3P1 388503 __UNKNOWN__ __UNKNOWN__ 19 10169208 10169208 __UNKNOWN__ RNA SNP G G A rs17211059 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:10169208G>A ENST00000495140.1 + 0 1795 Q6ZMU1 C3P1_HUMAN complement component 3 precursor pseudogene NA NA extracellular space (GO:0005615) endopeptidase inhibitor activity (GO:0004866) endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TCTCCAAGACGCTGAGGGAAT 0.542 NA NA G||| 558 0.111422 0.0091 0.2277 5008 , , NA 20094 0.0645 NA 0.1501 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 G 129,3839 2,125,1857 63 63 63 -2.2 0 19 dbSNP_123 63 1308,7026 105,1098,2964 no intergenic 107,1223,4821 AA,AG,GG 15.6947,3.251,11.681 10169208 1437,10865 1984 4167 6151 AK131489 19p13.2 2009-04-08 ENSG00000167798 ENSG00000167798 388503 34414 pseudogene pseudogene NA NA Standard NR_027300 NR_027300 NA Approved CPLP uc010dwx.2 Q6ZMU1 OTTHUMG00000158555 ENST00000495140.1: chr19.hg19:g.10169208G>A NA hg19 0.02 -0.219291 GACxCTG COVERED NOVEL C3P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000351284.1 1 3.309415 KEEP 0 0 0 11 345 GG 0.993072 0.549057 0 + 4 60 118 0 0 8.936909 21 60 695 50 ENST00000495140.1 0.16 0.552887 SLC44A2 57153 __UNKNOWN__ __UNKNOWN__ 19 10748820 10748820 __UNKNOWN__ Intron SNP T T C rs3859514 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:10748820T>C ENST00000335757.5 + 19 2216 SLC44A2_ENST00000407327.4_Intron|SLC44A2_ENST00000586078.1_Intron|SLC44A2_ENST00000588214.1_Intron Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 NA NA choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871) NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GATTTCTGTCTTCTGTGATGA 0.512 NA NA T||| 3394 0.677716 0.7421 0.7666 5008 , , NA 19350 0.6538 NA 0.5964 False NA ,,, NA NA NA 2504 0.636 NA NA NA NA 0 T , 3177,1229 704.4+/-407.1 1147,883,173 111 104 107 , -3 0 19 dbSNP_108 107 5558,3042 662.6+/-402.0 1802,1954,544 no intron,intron SLC44A2 NM_001145056.1,NM_020428.3 , 2949,2837,717 CC,CT,TT 35.3721,27.8938,32.8387 , , 10748820 8735,4271 2203 4300 6503 SO:0001627 intron_variant AF070636 CCDS12245.1, CCDS54216.1 19p13.2 2014-08-12 2013-07-17 ENSG00000129353 ENSG00000129353 57153 Solute carriers 17292 protein-coding gene gene with protein product 606106 NA 10677542, 15715662 Standard NM_001145056 NA Approved CTL2 uc002mpf.3 Q8IWA5 OTTHUMG00000180585 ENST00000335757.5:c.1840+51T>C chr19.hg19:g.10748820T>C NA B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68 hg19 CCDS12245.1 0.02 1.62926 GTCxTCT COVERED NOVEL SLC44A2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452045.1 8 16.247497 KEEP 0 0 0 54 1686 TT 1 0.999948 0 + 4 60 137 0 0 8.395598 92 60 2828 224 ENST00000335757.5 0.041667 0.999948 ZNF440 126070 __UNKNOWN__ __UNKNOWN__ 19 11940893 11940893 __UNKNOWN__ Intron SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:11940893G>C ENST00000304060.5 + 2 167 NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ccattgcactgcagcctgggc 0.473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095252 CCDS42503.1 19p13.13 2013-01-08 2006-08-14 2006-08-14 ENSG00000171295 ENSG00000171295 126070 Zinc fingers, C2H2-type, - 20874 protein-coding gene gene with protein product NA NA Standard NM_152357 NM_152357 NA Approved FLJ37933 uc002msp.1 Q8IYI8 OTTHUMG00000156403 ENST00000304060.5:c.4-205G>C chr19.hg19:g.11940893G>C NA Q8N1R9 hg19 CCDS42503.1 0.02 5.765284 ACTxCAG COVERED NOVEL ZNF440-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344508.1 39 5.603048 KEEP 1 8 270 113 3951 GG 1 1 0 + 11 60 384 0 0 26.317685 147 60 5194 405 ENST00000304060.5 0.06962 1 ZNF844 284391 __UNKNOWN__ __UNKNOWN__ 19 12191221 12191221 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:12191221G>A ENST00000439326.3 + 0 5461 NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 AAATGGAGTTGGAGGATGTCA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832297 CCDS45985.1 19p13.2 2013-01-08 ENSG00000223547 ENSG00000223547 284391 Zinc fingers, C2H2-type, - 25932 protein-coding gene gene with protein product NA NA Standard NM_001136501 NA Approved FLJ14959 uc002mtb.2 Q08AG5 OTTHUMG00000156405 ENST00000439326.3:c.*3285G>A chr19.hg19:g.12191221G>A NA Q5JPI8 hg19 CCDS45985.1 0.02 2.494789 GTTxGAG COVERED NOVEL ZNF844-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344086.2 47 30.834257 KEEP 0 1 30 113 3903 GG 1 1 0 + 6 60 185 0 0 10.52718 139 60 4721 367 ENST00000439326.3 0.041379 1 ASNA1 439 __UNKNOWN__ __UNKNOWN__ 19 12856216 12856216 __UNKNOWN__ Missense_Mutation SNP C C T rs144446697 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:12856216C>T ENST00000591090.1 + 4 437 c.335C>T c.(334-336)gCg>gTg p.A112V ASNA1_ENST00000357332.3_Missense_Mutation_p.A112V arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) NA NA endometrium(1)|lung(6)|ovary(3) 10 CTGGGCGTGGCGGAGCTGCCT 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 56 50 52 NA NA 19 NA 12856216 2203 4300 6503 SO:0001583 missense U60276 CCDS32920.1 19p13.13 2010-08-05 2001-12-04 ENSG00000198356 439 752 protein-coding gene gene with protein product golgi to ER traffic 3 homolog (S. cerevisiae), transmembrane domain recognition complex, 40kDa 601913 arsA (bacterial) arsenite transporter, ATP-binding, homolog 1 NA 8884272, 17382883 Standard NM_004317 NM_004317 NA Approved ARSA-I, GET3, TRC40 uc002muv.3 O43681 ENST00000591090.1:c.335C>T chr19.hg19:g.12856216C>T ENSP00000466379:p.Ala112Val NA hg19 CCDS32920.1 0.02 2.72537 TGGxGGA COVERED . . . . . . . . . . C 17.47 3.397209 0.62177 . . ENSG00000198356 ENST00000357332 T 0.44482 0.92 4.97 4.97 0.65823 . 0.000000 0.85682 D 0.000000 T 0.42426 0.1202 L 0.55103 1.725 0.80722 D 1 B;B 0.15930 0.015;0.008 B;B 0.16722 0.007;0.016 T 0.30534 -0.9975 10 0.45353 T 0.12 -21.0208 17.3696 0.87372 0.0:1.0:0.0:0.0 . 94;112 E7EVN0;O43681 .;ASNA_HUMAN V 112 ENSP00000349887:A112V ENSP00000349887:A112V A + 2 0 ASNA1 12717216 1.000000 0.71417 0.944000 0.38274 0.966000 0.64601 7.150000 0.77403 2.466000 0.83321 0.655000 0.94253 GCG NOVEL ASNA1-001 KNOWN overlapping_uORF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450921.1 3 27.057298 KEEP 0 0 0 90 3030 CC 1 1 0 + 6 60 178 0 0 10.101898 125 60 4262 304 ENST00000591090.1 0.045802 1 C19orf57 79173 __UNKNOWN__ __UNKNOWN__ 19 14003969 14003969 __UNKNOWN__ Missense_Mutation SNP G G C rs62622787 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:14003969G>C ENST00000346736.2 - 4 401 c.274C>G c.(274-276)Ctt>Gtt p.L92V C19orf57_ENST00000591586.1_Missense_Mutation_p.L92V|C19orf57_ENST00000454313.1_Missense_Mutation_p.L92V|C19orf57_ENST00000586783.1_Missense_Mutation_p.L92V NM_024323.3 NP_077299.3 Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 92 NA multicellular organismal development (GO:0007275) breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GAAGGAGGAAGGGGAGCTGGC 0.537 NA NA G||| 100 0.0199681 0.003 0.0331 5008 , , NA 17877 0.001 NA 0.0567 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 G VAL/LEU 65,4339 2,61,2139 45 43 44 274 -3.6 0 19 dbSNP_129 44 578,8018 22,534,3742 yes missense C19orf57 NM_024323.3 32 24,595,5881 CC,CG,GG 6.7241,1.4759,4.9462 possibly-damaging 92/638 14003969 643,12357 2202 4298 6500 SO:0001583 missense BC012945 CCDS12299.1 19p13.12 2012-10-26 ENSG00000132016 ENSG00000132016 79173 28153 protein-coding gene gene with protein product NA NA 8228263 Standard NM_024323 NM_024323 NA Approved MGC11271 uc002mxl.1 Q0VDD7 OTTHUMG00000181851 ENST00000346736.2:c.274C>G chr19.hg19:g.14003969G>C ENSP00000254336:p.Leu92Val NA Q13411|Q8N825|Q96D63|Q9BU49 hg19 CCDS12299.1 0.02 -0.245643 GAAxGGG COVERED 62 0.028388278388278388 1 0.0020325203252032522 15 0.04143646408839779 1 0.0017482517482517483 45 0.059366754617414245 G 14.65 2.599703 0.46318 0.014759 0.067241 ENSG00000132016 ENST00000454313;ENST00000346736 T;T 0.33865 1.39;1.39 3.99 -3.6 0.04570 . 1.088120 0.07297 N 0.873518 T 0.01765 0.0056 L 0.29908 0.895 0.09310 N 1 P 0.50819 0.939 B 0.43754 0.43 T 0.09443 -1.0674 10 0.54805 T 0.06 0.0 4.4323 0.11533 0.1567:0.0:0.517:0.3264 rs62622787 92 Q0VDD7-2 . V 92 ENSP00000404382:L92V;ENSP00000254336:L92V ENSP00000254336:L92V L - 1 0 C19orf57 13864969 0.000000 0.05858 0.006000 0.13384 0.234000 0.25298 -2.428000 0.01025 -0.367000 0.08052 0.561000 0.74099 CTT NOVEL C19orf57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457948.1 0 2.407953 KEEP 0 0 0 8 289 GG 0.99257 0.636582 0 - 11 60 387 0 0 35.800603 17 60 603 56 ENST00000346736.2 0.392857 0.641347 CLEC17A 388512 __UNKNOWN__ __UNKNOWN__ 19 14719895 14719895 __UNKNOWN__ Intron SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:14719895T>A ENST00000417570.1 + 14 1042 CLEC17A_ENST00000397439.2_Intron|CLEC17A_ENST00000547437.1_Intron NM_001204118.1 NP_001191047.1 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A NA NA cell surface (GO:0009986)|integral component of membrane (GO:0016021) fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872) NA tacaggtgtgtgccaccgcac 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK127809 CCDS46002.1, CCDS46002.2, CCDS56087.1 19p13.12 2009-06-26 ENSG00000187912 ENSG00000187912 388512 C-type lectin domain containing 34520 protein-coding gene gene with protein product prolectin NA NA 19419970 Standard NM_207390 NM_207390 NA Approved FLJ45910 uc010dzn.2 Q6ZS10 ENST00000417570.1:c.1005-981T>A chr19.hg19:g.14719895T>A NA A8MX68|B2RTX0|B7ZMM4 hg19 CCDS56087.1 0.02 1.593139 GTGxGCC COVERED NOVEL CLEC17A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403400.1 18 2.571398 KEEP 0 2 67 32 911 TT 0.999998 0.995685 0 + 4 60 131 0 0 8.691103 54 60 1636 145 ENST00000417570.1 0.068966 0.995687 ZNF333 84449 __UNKNOWN__ __UNKNOWN__ 19 14818652 14818652 __UNKNOWN__ Intron SNP C C T rs34821457 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:14818652C>T ENST00000292530.6 + 7 602 ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000536363.1_Intron NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 cgtgagccaccgcgcccggcc 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSCLC(60;75 1281 16985 25154 29885) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12316.1, CCDS74298.1 19p13 2013-01-08 ENSG00000160961 84449 Zinc fingers, C2H2-type, - 15624 protein-coding gene gene with protein product 611811 NA 12151103 Standard NM_032433 XM_005260098 NA Approved KIAA1806 uc002mzn.3 Q96JL9 ENST00000292530.6:c.511+1067C>T chr19.hg19:g.14818652C>T NA Q6P2E6|Q86WS6|Q8TDL0 hg19 CCDS12316.1 0.02 2.602533 CACxGCG COVERED NOVEL ZNF333-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466496.1 14 17.525293 KEEP 8 2 65 81 2765 CC 1 1 0 + 6 60 179 0 0 9.968862 137 60 4628 327 ENST00000292530.6 0.041958 1 CYP4F2 8529 __UNKNOWN__ __UNKNOWN__ 19 15989696 15989696 __UNKNOWN__ Missense_Mutation SNP G G C rs3952537 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:15989696G>C ENST00000221700.6 - 13 1543 c.1448C>G c.(1447-1449)gCg>gGg p.A483G NM_001082.3 NP_001073.3 cytochrome P450, family 4, subfamily F, polypeptide 2 NA NA p.A483G(1) NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CAGCGTGAGCGCCAGGACCAC 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) NS(1) 49 46 47 NA NA 19 NA 15989696 2203 4300 6503 SO:0001583 missense U02388 CCDS12336.1 19p13.12 2013-11-11 2003-01-14 ENSG00000186115 ENSG00000186115 8529 Cytochrome P450s 2645 protein-coding gene gene with protein product 604426 cytochrome P450, subfamily IVF, polypeptide 2 NA 8424651, 8026587 Standard NM_001082 NM_001082 NA Approved uc002nbs.1 P78329 OTTHUMG00000185995 ENST00000221700.6:c.1448C>G chr19.hg19:g.15989696G>C ENSP00000221700:p.Ala483Gly NA hg19 CCDS12336.1 0.02 4.220275 AGCxCCA COVERED . . . . . . . . . . g 13.56 2.275003 0.40194 . . ENSG00000186115 ENST00000221700;ENST00000392846 T 0.72167 -0.63 2.63 0.365 0.16131 . 0.000000 0.64402 U 0.000006 T 0.67590 0.2909 M 0.83012 2.62 0.80722 D 1 B 0.27594 0.182 B 0.30943 0.122 T 0.61058 -0.7139 10 0.54805 T 0.06 . 5.3057 0.15803 0.131:0.2102:0.6588:0.0 rs3952537 483 P78329 CP4F2_HUMAN G 483;334 ENSP00000221700:A483G ENSP00000221700:A483G A - 2 0 CYP4F2 15850696 1.000000 0.71417 0.907000 0.35723 0.763000 0.43281 4.512000 0.60469 0.028000 0.15324 -0.324000 0.08512 GCG NOVEL CYP4F2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460372.3 0 10.168248 KEEP 0 1 35 46 1582 GG 1 0.999992 0 - 21 60 686 0 0 55.432523 88 60 2963 196 ENST00000221700.6 0.192661 0.999992 SMIM7 79086 __UNKNOWN__ __UNKNOWN__ 19 16756753 16756753 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:16756753A>G ENST00000487416.2 - 0 1578 CTC-429P9.4_ENST00000593962.1_Intron|CTC-429P9.4_ENST00000600705.1_Intron NM_024104.3 NP_077009.2 Q9BQ49 SMIM7_HUMAN small integral membrane protein 7 NA NA integral component of membrane (GO:0016021) NA gattacaggtatgagccactg 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025602 CCDS12348.2, CCDS74307.1 19p13.11 2012-10-26 2012-10-26 2012-10-26 ENSG00000214046 ENSG00000214046 79086 28419 protein-coding gene gene with protein product NA chromosome 19 open reading frame 42 C19orf42 NA 12477932 Standard NM_024104 NM_024104 NA Approved MGC2747 uc002ner.3 Q9BQ49 OTTHUMG00000149895 ENST00000487416.2:c.*1304T>C chr19.hg19:g.16756753A>G NA A8MX44 hg19 CCDS12348.2 0.02 3.719415 GGTxTGA COVERED NOVEL SMIM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313801.2 20 15.771863 KEEP 0 1 36 65 1864 AA 1 1 0 - 6 60 206 0 0 13.102606 115 60 3265 276 ENST00000487416.2 0.049587 1 FCHO1 23149 __UNKNOWN__ __UNKNOWN__ 19 17881171 17881171 __UNKNOWN__ Intron SNP G G A rs12327667 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:17881171G>A ENST00000596536.1 + 8 619 FCHO1_ENST00000597512.1_Intron|FCHO1_ENST00000594202.1_Intron|FCHO1_ENST00000389133.4_Intron|FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000600676.1_Intron|FCHO1_ENST00000596951.1_Intron|FCHO1_ENST00000539407.1_Intron|FCHO1_ENST00000252771.7_Intron NM_015122.2 NP_055937.1 O14526 FCHO1_HUMAN FCH domain only 1 NA NA clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583) coated pit (GO:0005905)|plasma membrane (GO:0005886) AP-2 adaptor complex binding (GO:0035612) NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CTGACATCACGTGGAGTGTTT 0.493 NA NA A||| 2761 0.551318 0.5567 0.5259 5008 , , NA 19112 0.7292 NA 0.4016 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006628 CCDS32955.1, CCDS59365.1, CCDS59366.1 19p13.12 2008-02-05 ENSG00000130475 23149 29002 protein-coding gene gene with protein product 613437 NA 12477932 Standard NM_015122 NM_001161357 NA Approved KIAA0290 uc002nhg.3 O14526 ENST00000596536.1:c.337-63G>A chr19.hg19:g.17881171G>A NA A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22 hg19 CCDS32955.1 0.02 1.581469 CACxTGG COVERED NOVEL FCHO1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466946.2 5 6.755318 KEEP 0 1 27 32 1087 GG 0.999998 0.984159 0 + 4 60 125 0 0 8.123421 53 60 1756 121 ENST00000596536.1 0.070175 0.984161 RAB3A 5864 __UNKNOWN__ __UNKNOWN__ 19 18311111 18311111 __UNKNOWN__ Intron SNP A A G rs138348056|rs3803919 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:18311111A>G ENST00000222256.4 - 3 526 RAB3A_ENST00000464076.3_Intron NM_002866.4 NP_002857.1 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family NA NA axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465) acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982) ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 gaaaagaaaaaaaaagaGCAA 0.517 NA NA A||| 1077 0.215056 0.1876 0.3213 5008 , , NA 21140 0.0913 NA 0.3668 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 A 708,3694 88,532,1581 77 78 77 -3.1 0 19 dbSNP_107 77 2744,5856 492,1760,2048 no intron RAB3A NM_002866.4 580,2292,3629 GG,GA,AA 31.907,16.0836,26.5498 18311111 3452,9550 2201 4300 6501 SO:0001627 intron_variant CCDS12372.1 19p13.2 2008-07-17 ENSG00000105649 ENSG00000105649 5864 RAB, member RAS oncogene 9777 protein-coding gene gene with protein product RAS-associated protein RAB3A 179490 NA 2687157, 7532276 Standard NM_002866 NM_002866 NA Approved uc002nie.2 P20336 OTTHUMG00000137378 ENST00000222256.4:c.347+25T>C chr19.hg19:g.18311111A>G NA A8K0J4|Q9NYE1 hg19 CCDS12372.1 0.02 1.72522 AAAxAAA COVERED NOVEL RAB3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268056.2 18 16.549961 KEEP 0 0 0 55 1727 AA 1 0.999726 0 - 5 60 169 1 0 11.168231 75 60 2284 176 ENST00000222256.4 0.0625 0.999726 ARMC6 93436 __UNKNOWN__ __UNKNOWN__ 19 19150219 19150219 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:19150219C>T ENST00000546344.1 + 1 318 ARMC6_ENST00000269932.6_Intron|ARMC6_ENST00000392335.2_Intron|ARMC6_ENST00000392336.3_Intron|ARMC6_ENST00000535612.1_Intron Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 NA NA hematopoietic progenitor cell differentiation (GO:0002244) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) gcactgggatcacaggtgtga 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648486 CCDS32965.1, CCDS56089.1 19p13 2013-02-14 ENSG00000105676 93436 Armadillo repeat containing 25049 protein-coding gene gene with protein product NA NA 12477932 Standard NM_033415 NM_033415 NA Approved MGC19595 uc002nlc.3 Q6NXE6 ENST00000546344.1:c.-1+5480C>T chr19.hg19:g.19150219C>T NA B4DI98|O94999|Q9BTH5 hg19 0.02 1.278173 GATxACA COVERED . . . . . . . . . . c 1.003 -0.690346 0.03303 . . ENSG00000105676 ENST00000543877 . . . 0.149 0.149 0.14863 . . . . . T 0.39489 0.1080 . . . 0.09310 N 0.999998 . . . . . . T 0.39014 -0.9634 4 0.87932 D 0 . . . . . . . . Y 40 . ENSP00000439003:H40Y H + 1 0 ARMC6 19011219 0.501000 0.26099 0.159000 0.22649 0.106000 0.19336 0.193000 0.17116 0.192000 0.20272 0.195000 0.17529 CAC NOVEL ARMC6-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403231.1 11 2.877114 KEEP 0 2 58 30 1013 CC 0.999997 0.996721 0 + 5 60 133 0 0 7.979072 62 60 2065 137 ENST00000546344.1 0.074627 0.996724 ZNF429 353088 __UNKNOWN__ __UNKNOWN__ 19 21720133 21720133 __UNKNOWN__ Missense_Mutation SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:21720133T>A ENST00000358491.4 + 4 1486 c.1278T>A c.(1276-1278)aaT>aaA p.N426K ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 426 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 AACCCTACAATTGTGAAGAAT 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AY269786 CCDS42537.1 19p12 2014-02-14 ENSG00000197013 ENSG00000197013 353088 Zinc fingers, C2H2-type, - 20817 protein-coding gene gene with protein product NA NA Standard NM_001001415 NM_001001415 NA Approved uc002nqd.1 Q86V71 OTTHUMG00000182848 ENST00000358491.4:c.1278T>A chr19.hg19:g.21720133T>A ENSP00000351280:p.Asn426Lys NA A6NLV7|Q9BZE6 hg19 CCDS42537.1 0.02 2.539317 CAAxTGT COVERED . . . . . . . . . . . 0.001 -3.625700 0.00007 . . ENSG00000197013 ENST00000358491 T 0.06449 3.3 0.81 -1.62 0.08372 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00906 0.0030 N 0.00081 -2.22 0.09310 N 1 B 0.14012 0.009 B 0.04013 0.001 T 0.36432 -0.9748 9 0.02654 T 1 . 2.4122 0.04427 0.3241:0.2216:0.0:0.4543 . 426 Q86V71 ZN429_HUMAN K 426 ENSP00000351280:N426K ENSP00000351280:N426K N + 3 2 ZNF429 21511973 0.000000 0.05858 0.303000 0.25071 0.304000 0.27724 -5.363000 0.00128 -1.195000 0.02680 -1.194000 0.01681 AAT NOVEL ZNF429-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463981.1 13 16.848391 KEEP 0 0 0 56 1757 TT 1 1 0 + 7 60 183 0 0 9.663386 131 60 4004 278 ENST00000358491.4 0.050725 1 ZNF100 163227 __UNKNOWN__ __UNKNOWN__ 19 21909483 21909483 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:21909483T>C ENST00000358296.6 - 0 1829 ZNF100_ENST00000305570.6_3'UTR NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 TTGCCACATTTTTCACATTTG 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 46 52 50 NA NA 19 NA 21909483 2110 4239 6349 SO:0001624 3_prime_UTR_variant BC035579 CCDS42538.1 19p13.1 2013-01-08 2003-12-19 ENSG00000197020 ENSG00000197020 163227 Zinc fingers, C2H2-type, - 12880 protein-coding gene gene with protein product 603982 zinc finger protein 100 (Y1) NA 12477932 Standard NM_173531 NM_173531 NA Approved uc002nqi.3 Q8IYN0 ENST00000358296.6:c.*2A>G chr19.hg19:g.21909483T>C NA Q7M4M0 hg19 CCDS42538.1 0.02 4.1499 ATTxTTC COVERED NOVEL ZNF100-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464087.1 6 11.129937 KEEP 0 0 0 37 1097 TT 1 0.999997 0 - 6 60 198 0 0 12.512667 106 60 3219 221 ENST00000358296.6 0.053571 0.999998 ZNF91 7644 __UNKNOWN__ __UNKNOWN__ 19 23542455 23542455 __UNKNOWN__ Missense_Mutation SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:23542455C>T ENST00000300619.7 - 4 3531 c.3326G>A c.(3325-3327)gGa>gAa p.G1109E ZNF91_ENST00000397082.2_Missense_Mutation_p.G1077E|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1109 NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GCCACATTCTCCACATTTGTA 0.408 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 66 72 70 NA NA 19 NA 23542455 2135 4272 6407 SO:0001583 missense M61871 CCDS42541.1, CCDS74322.1 19p12 2014-02-04 2006-05-12 ENSG00000167232 ENSG00000167232 7644 Zinc fingers, C2H2-type, - 13166 protein-coding gene gene with protein product 603971 zinc finger protein 91 (HPF7, HTF10) NA 2023909, 2505992 Standard NM_003430 XR_430154 NA Approved HPF7, HTF10 uc002nre.3 Q05481 OTTHUMG00000183268 ENST00000300619.7:c.3326G>A chr19.hg19:g.23542455C>T ENSP00000300619:p.Gly1109Glu NA A8K5E1|B7Z6G6 hg19 CCDS42541.1 0.02 2.777975 TCTxCAC COVERED . . . . . . . . . . C 0.031 -1.334451 0.01287 . . ENSG00000167232 ENST00000300619;ENST00000397082 T;T 0.16897 2.31;2.31 1.49 -0.0244 0.13939 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.03959 0.0111 N 0.01438 -0.865 0.09310 N 1 B;B 0.19583 0.037;0.004 B;B 0.12837 0.008;0.004 T 0.40308 -0.9570 9 0.06236 T 0.91 . 2.9556 0.05875 0.0:0.1738:0.2527:0.5736 . 1077;1109 Q05481-2;Q05481 .;ZNF91_HUMAN E 1109;1077 ENSP00000300619:G1109E;ENSP00000380272:G1077E ENSP00000300619:G1109E G - 2 0 ZNF91 23334295 0.000000 0.05858 0.002000 0.10522 0.374000 0.29953 -1.295000 0.02764 -0.137000 0.11455 -1.043000 0.02367 GGA NOVEL ZNF91-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465891.1 19 18.973372 KEEP 0 1 31 74 2483 CC 1 1 0 - 7 60 203 0 0 11.922005 119 60 4059 257 ENST00000300619.7 0.055556 1 POP4 10775 __UNKNOWN__ __UNKNOWN__ 19 30102856 30102856 __UNKNOWN__ Intron SNP A A G rs2288477 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:30102856A>G ENST00000585603.1 + 4 2664 POP4_ENST00000591824.1_Intron|POP4_ENST00000392279.3_Intron|POP4_ENST00000221770.3_Intron O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) NA NA mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033) nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677) ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723) breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) CGTAAGTTGCATTCCTGAAGC 0.507 NA NA A||| 1488 0.297125 0.1407 0.317 5008 , , NA 20236 0.4603 NA 0.327 False NA ,,, NA NA NA 2504 0.2955 NA NA NA Melanoma(89;1165 1449 14085 34436 43672) NA 0 A 781,3625 317.4+/-295.1 56,669,1478 109 101 103 -4.2 0 19 dbSNP_100 103 3109,5491 473.6+/-368.6 563,1983,1754 no intron POP4 NM_006627.2 619,2652,3232 GG,GA,AA 36.1512,17.7258,29.9093 30102856 3890,9116 2203 4300 6503 SO:0001627 intron_variant BC006098 CCDS12416.1 19q13.11 2012-05-21 ENSG00000105171 10775 30081 protein-coding gene gene with protein product 606114 NA 10352175, 10024167 Standard NM_006627 NM_006627 NA Approved RPP29 uc002nsf.2 O95707 ENST00000585603.1:c.362+10A>G chr19.hg19:g.30102856A>G NA Q5XKL7|Q6FHW9|Q9UQQ3 hg19 CCDS12416.1 0.02 1.447249 TGCxTTC COVERED NOVEL POP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458710.1 2 16.844538 KEEP 0 0 0 56 1614 AA 1 0.99993 0 + 4 60 131 0 0 7.831842 90 60 2660 212 ENST00000585603.1 0.042553 0.99993 TSHZ3 57616 __UNKNOWN__ __UNKNOWN__ 19 31767135 31767135 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:31767135C>T ENST00000240587.4 - 0 3891 NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 NA NA in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105) growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGCCTGATTCCGTTATAAATG 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136805 CCDS12421.2 19q13.11 2013-11-20 2007-07-16 2006-03-14 ENSG00000121297 ENSG00000121297 57616 Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type 30700 protein-coding gene gene with protein product teashirt 3 614119 zinc finger protein 537, teashirt family zinc finger 3 ZNF537 NA Standard NM_020856 NM_020856 NA Approved KIAA1474, TSH3 uc002nsy.4 Q63HK5 OTTHUMG00000150184 ENST00000240587.4:c.*318G>A chr19.hg19:g.31767135C>T NA Q9H0G6|Q9P254 hg19 CCDS12421.2 0.02 1.324458 TTCxGTT COVERED NOVEL TSHZ3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316743.2 3 6.620301 KEEP 0 0 0 22 723 CC 0.999879 0.998574 0 - 4 60 126 0 0 7.733082 71 60 2309 131 ENST00000240587.4 0.053333 0.998696 FAM187B 148109 __UNKNOWN__ __UNKNOWN__ 19 35719577 35719577 __UNKNOWN__ Missense_Mutation SNP G G A rs34873156 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:35719577G>A ENST00000324675.3 - 1 55 c.7C>T c.(7-9)Ccc>Tcc p.P3S NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 3 NA P -> S (in dbSNP:rs34873156). {ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 CACAGCATGGGTGGCATGGTG 0.612 NA NA -||| 864 0.172524 0.112 0.2435 5008 , , NA 16647 0.0159 NA 0.3718 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 G SER/PRO 590,3804 38,514,1645 25 28 27 7 -3.6 0 19 dbSNP_126 27 3231,5367 596,2039,1664 yes missense FAM187B NM_152481.1 74 634,2553,3309 AA,AG,GG 37.5785,13.4274,29.4104 benign 3/370 35719577 3821,9171 2197 4299 6496 SO:0001583 missense AK098526 CCDS12448.1 19q13.12 2008-10-16 2008-10-16 2008-10-16 ENSG00000177558 ENSG00000177558 148109 26366 protein-coding gene gene with protein product NA transmembrane protein 162 TMEM162 NA Standard NM_152481 NM_152481 NA Approved FLJ25660 uc002nyk.1 Q17R55 OTTHUMG00000164450 ENST00000324675.3:c.7C>T chr19.hg19:g.35719577G>A ENSP00000323355:p.Pro3Ser NA Q8N7G6 hg19 CCDS12448.1 0.02 -0.342089 TGGxTGG COVERED 458 0.2097069597069597 65 0.13211382113821138 92 0.2541436464088398 14 0.024475524475524476 287 0.3786279683377309 G 2.096 -0.407252 0.04832 0.134274 0.375785 ENSG00000177558 ENST00000324675 T 0.21543 2.0 5.3 -3.6 0.04570 . 0.804889 0.11107 N 0.599034 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.09022 0.002 B 0.06405 0.002 T 0.46034 -0.9220 9 0.09338 T 0.73 -17.2885 2.0071 0.03480 0.128:0.3374:0.2819:0.2527 rs34873156;rs62111448 3 Q17R55 F187B_HUMAN S 3 ENSP00000323355:P3S ENSP00000323355:P3S P - 1 0 FAM187B 40411417 0.000000 0.05858 0.013000 0.15412 0.002000 0.02628 -1.237000 0.02922 -0.394000 0.07727 -1.105000 0.02106 CCC NOVEL FAM187B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378854.1 0 2.708603 KEEP 0 0 0 9 303 GG 0.99254 0.859287 0 - 14 60 422 0 0 37.819763 25 60 859 57 ENST00000324675.3 0.358974 0.865745 NPHS1 4868 __UNKNOWN__ __UNKNOWN__ 19 36321910 36321910 __UNKNOWN__ Intron SNP G G A rs731934 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:36321910G>A ENST00000378910.5 - 27 3481 NPHS1_ENST00000353632.6_Intron NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) NA NA cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519) cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057) myosin binding (GO:0017022) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCAGGCGTCGGGGGTACCTC 0.582 NA NA G||| 1837 0.366813 0.0514 0.3919 5008 , , NA 20051 0.6736 NA 0.3658 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 G 457,3949 218.4+/-236.5 24,409,1770 63 62 62 -3.7 0 19 dbSNP_96 62 3299,5301 493.4+/-373.6 634,2031,1635 no intron NPHS1 NM_004646.3 658,2440,3405 AA,AG,GG 38.3605,10.3722,28.879 36321910 3756,9250 2203 4300 6503 SO:0001627 intron_variant CCDS32996.1 19q12-q13.1 2014-09-17 ENSG00000161270 4868 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7908 protein-coding gene gene with protein product 602716 NA 9915943, 9660941 Standard NM_004646 NA Approved CNF, NPHN uc002oby.3 O60500 ENST00000378910.5:c.3481+44C>T chr19.hg19:g.36321910G>A NA A6NDH2|C3RX61 hg19 CCDS32996.1 0.02 1.113897 GTCxGGG COVERED NOVEL NPHS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452553.1 3 11.435966 KEEP 0 0 0 38 1288 GG 1 0.999962 0 - 7 60 209 0 0 13.3327 90 60 3051 201 ENST00000378910.5 0.072165 0.999962 WDR87 83889 __UNKNOWN__ __UNKNOWN__ 19 38376103 38376103 __UNKNOWN__ Silent SNP A A G rs73027454 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:38376103A>G ENST00000303868.5 - 6 8315 c.8091T>C c.(8089-8091)ttT>ttC p.F2697F WDR87_ENST00000447313.2_Silent_p.F2736F NM_031951.3 NP_114157.3 Q6ZQQ6 WDR87_HUMAN WD repeat domain 87 2697 NA NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1) 36 GTTTATCCTTAAAATCCCAGA 0.423 NA NA A||| 961 0.191893 0.0998 0.2622 5008 , , NA 20467 0.0298 NA 0.3469 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 A 197,1187 16,165,511 20 18 19 8091 -5 0 19 dbSNP_130 19 1123,2059 213,697,681 no coding-synonymous WDR87 NM_031951.3 229,862,1192 GG,GA,AA 35.2923,14.2341,28.9093 2697/2874 38376103 1320,3246 692 1591 2283 SO:0001819 synonymous_variant AK128826 CCDS46063.1, CCDS74356.1 19q13.13 2013-01-09 ENSG00000171804 ENSG00000171804 83889 WD repeat domain containing 29934 protein-coding gene gene with protein product NA NA Standard XM_940478 XM_005259304 NA Approved NYD-SP11 uc010efu.2 Q6ZQQ6 OTTHUMG00000048187 ENST00000303868.5:c.8091T>C chr19.hg19:g.38376103A>G NA Q9BWV9 hg19 CCDS46063.1 0.02 3.69249 CTTxAAA COVERED NOVEL WDR87-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000314628.2 7 18.349319 KEEP 0 0 0 61 1771 AA 1 0.999968 0 - 5 60 169 0 0 10.692762 94 60 2689 222 ENST00000303868.5 0.050505 0.999968 CYP2A6 1548 __UNKNOWN__ __UNKNOWN__ 19 41355820 41355820 __UNKNOWN__ Silent SNP A A G rs199702575 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:41355820A>G ENST00000301141.5 - 2 266 c.246T>C c.(244-246)tgT>tgC p.C82C CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 82 NA coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789) coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495) CATCATGTCCACACAGCACCA 0.617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 63 62 62 NA NA 19 NA 41355820 2203 4296 6499 SO:0001819 synonymous_variant AF182275 CCDS12568.1 19q13.2 2013-11-11 2003-01-14 ENSG00000255974 ENSG00000255974 1548 Cytochrome P450s 2610 protein-coding gene gene with protein product 122720 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6 CYP2A3 NA 7668294, 2748347 Standard NM_000762 NM_000762 NA Approved CPA6, CYP2A uc002opl.4 P11509 OTTHUMG00000182713 ENST00000301141.5:c.246T>C chr19.hg19:g.41355820A>G NA A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48 hg19 CCDS12568.1 0.02 5.950899 TCCxCAC COVERED NOVEL CYP2A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463259.1 3 8.899191 KEEP 42 5 173 90 2732 AA 1 1 0 - 15 46 517 0 0 36.334035 168 60 5075 475 ENST00000301141.5 0.081967 1 CYP2A6 1548 __UNKNOWN__ __UNKNOWN__ 19 41355828 41355828 __UNKNOWN__ Missense_Mutation SNP C C T rs200582200 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:41355828C>T ENST00000301141.5 - 2 258 c.238G>A c.(238-240)Gtg>Atg p.V80M CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 80 NA coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789) coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495) CCACACAGCACCACGACCCGC 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF182275 CCDS12568.1 19q13.2 2013-11-11 2003-01-14 ENSG00000255974 ENSG00000255974 1548 Cytochrome P450s 2610 protein-coding gene gene with protein product 122720 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6 CYP2A3 NA 7668294, 2748347 Standard NM_000762 NM_000762 NA Approved CPA6, CYP2A uc002opl.4 P11509 OTTHUMG00000182713 ENST00000301141.5:c.238G>A chr19.hg19:g.41355828C>T ENSP00000301141:p.Val80Met NA A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48 hg19 CCDS12568.1 0.02 3.948507 GCAxCAC COVERED . . . . . . . . . . - 14.78 2.638204 0.47153 . . ENSG00000255974 ENST00000301141 T 0.72167 -0.63 2.72 2.72 0.32119 . 0.233778 0.33792 U 0.004555 T 0.71567 0.3355 M 0.69463 2.115 0.30711 N 0.749265 D 0.61697 0.99 P 0.48524 0.58 T 0.74197 -0.3743 10 0.48119 T 0.1 . 12.2118 0.54383 0.0:1.0:0.0:0.0 . 80 P11509 CP2A6_HUMAN M 80 ENSP00000301141:V80M ENSP00000301141:V80M V - 1 0 CYP2A6 46047668 1.000000 0.71417 0.330000 0.25442 0.037000 0.13140 2.581000 0.46077 1.336000 0.45506 0.185000 0.17295 GTG NOVEL CYP2A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463259.1 5 9.336642 KEEP 40 6 182 95 3303 CC 1 1 0 - 16 46 479 0 0 31.563002 178 60 6217 496 ENST00000301141.5 0.082474 1 CYP2A7 1549 __UNKNOWN__ __UNKNOWN__ 19 41386033 41386033 __UNKNOWN__ Missense_Mutation SNP T T C rs73032311 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:41386033T>C ENST00000301146.4 - 4 1151 c.610A>G c.(610-612)Atg>Gtg p.M204V CYP2A7_ENST00000291764.3_Missense_Mutation_p.M153V|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 204 NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCTAGCATCATGCTCAGCAGT 0.567 NA NA .||| 569 0.113618 0.0802 0.0807 5008 , , NA 9800 0.1796 NA 0.1441 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 T VAL/MET,VAL/MET 408,3998 202.8+/-225.5 17,374,1812 163 136 145 610,457 0.8 0 19 dbSNP_131 145 1367,7233 267.1+/-287.1 131,1105,3064 yes missense,missense CYP2A7 NM_000764.2,NM_030589.2 21,21 148,1479,4876 CC,CT,TT 15.8953,9.2601,13.6475 possibly-damaging,possibly-damaging 204/495,153/444 41386033 1775,11231 2203 4300 6503 SO:0001583 missense NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549 Cytochrome P450s 2611 protein-coding gene gene with protein product 608054 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 NA 7668294, 15128046 Standard NM_030589 NM_030589 NA Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.610A>G chr19.hg19:g.41386033T>C ENSP00000301146:p.Met204Val NA Q13121 hg19 CCDS12569.1 0.02 3.441026 TCAxGCT COVERED 299 0.13690476190476192 49 0.09959349593495935 32 0.08839779005524862 106 0.1853146853146853 112 0.14775725593667546 t 5.558 0.287753 0.10513 0.092601 0.158953 ENSG00000198077 ENST00000301146;ENST00000291764 T;T 0.68331 -0.32;-0.32 1.95 0.761 0.18448 . 0.227903 0.43579 U 0.000551 T 0.00109 0.0003 L 0.37507 1.11 0.80722 P 0.0 B;B 0.24533 0.03;0.105 B;B 0.22386 0.036;0.039 T 0.02758 -1.1114 9 0.40728 T 0.16 . 4.8627 0.13592 0.2728:0.0:0.0:0.7272 . 153;204 F8W816;P20853 .;CP2A7_HUMAN V 204;153 ENSP00000301146:M204V;ENSP00000291764:M153V ENSP00000291764:M153V M - 1 0 CYP2A7 46077873 0.830000 0.29337 0.002000 0.10522 0.018000 0.09664 1.082000 0.30803 0.000000 0.14550 0.147000 0.16070 ATG NOVEL CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463269.2 8 24.666043 KEEP 3 0 0 82 2488 TT 1 1 0 - 6 60 197 0 0 11.798039 135 60 4144 306 ENST00000301146.4 0.042553 1 TEX101 83639 __UNKNOWN__ __UNKNOWN__ 19 43922300 43922300 __UNKNOWN__ Intron SNP G G A rs2278834 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:43922300G>A ENST00000602198.1 + 8 1016 TEX101_ENST00000601707.1_Intron|TEX101_ENST00000598265.1_Intron|TEX101_ENST00000253435.7_Intron NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 NA NA acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TGTCTCTCCCGATCCTTCCTT 0.512 NA NA c||| 1443 0.288139 0.034 0.2824 5008 , , NA 20291 0.6091 NA 0.2346 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 0 C , 272,4134 6,260,1937 77 75 75 , -2.2 0 19 dbSNP_100 75 1947,6653 249,1449,2602 no intron,intron TEX101 NM_001130011.1,NM_031451.4 , 255,1709,4539 AA,AG,GG 22.6395,6.1734,17.0614 , , 43922300 2219,10787 2203 4300 6503 SO:0001627 intron_variant AF241268 CCDS12619.1, CCDS59393.1 19q13.31 2013-06-06 2007-03-13 ENSG00000131126 83639 30722 protein-coding gene gene with protein product cancer/testis antigen 131, spermatogenesis associated 44 612665 testis expressed sequence 101 NA 16388701, 16516155 Standard NM_031451 NM_031451 NA Approved MGC4766, SGRG, CT131, SPATA44 uc010xwo.2 Q9BY14 ENST00000602198.1:c.575-20G>A chr19.hg19:g.43922300G>A NA Q7L5R2|Q9BPY7 hg19 CCDS12619.1 0.02 -0.245602 CCCxATC COVERED NOVEL TEX101-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463173.1 4 6.018223 KEEP 0 0 0 20 642 GG 0.999863 0.641259 0 + 4 60 121 0 0 9.023501 24 60 777 59 ENST00000602198.1 0.142857 0.641347 ZNF45 7596 __UNKNOWN__ __UNKNOWN__ 19 44418544 44418544 __UNKNOWN__ Silent SNP A A G rs425221 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:44418544A>G ENST00000269973.5 - 10 2134 c.1044T>C c.(1042-1044)aaT>aaC p.N348N RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.N348N NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 348 NA gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 TACAATGAATATTAAGGTGTG 0.478 NA NA G||| 2632 0.525559 0.3343 0.6499 5008 , , NA 22417 0.7996 NA 0.5169 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 G 1580,2826 666.5+/-401.7 293,994,916 71 66 68 1044 1.4 0.3 19 dbSNP_80 68 4353,4247 573.4+/-389.9 1119,2115,1066 no coding-synonymous ZNF45 NM_003425.3 1412,3109,1982 GG,GA,AA 49.3837,35.8602,45.6174 348/683 44418544 5933,7073 2203 4300 6503 SO:0001819 synonymous_variant M67509 CCDS12632.1 19q13.2 2013-01-08 2005-01-11 ENSG00000124459 7596 Zinc fingers, C2H2-type, - 13111 protein-coding gene gene with protein product 194554 zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide), zinc finger protein 13 ZNF13 NA 9067431 Standard NM_003425 NM_003425 NA Approved uc002oxw.2 Q02386 ENST00000269973.5:c.1044T>C chr19.hg19:g.44418544A>G NA P17016|P78472|Q9P1U9 hg19 CCDS12632.1 0.02 1.725344 AATxTTA COVERED NOVEL ZNF45-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459919.1 7 10.162926 KEEP 0 1 38 47 1383 AA 1 0.999726 0 - 4 60 139 0 0 8.787174 82 60 2363 185 ENST00000269973.5 0.046512 0.999726 ZNF233 353355 __UNKNOWN__ __UNKNOWN__ 19 44769974 44769974 __UNKNOWN__ Intron SNP C C T rs12462723 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:44769974C>T ENST00000592581.1 + 3 121 ZNF233_ENST00000391958.2_Intron|ZNF233_ENST00000589522.1_Intron|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron NM_001207005.1 NP_001193934.1 A6NK53 ZN233_HUMAN zinc finger protein 233 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) gtacaaacacctttttcAGCG 0.358 NA NA C||| 2180 0.435304 0.121 0.4597 5008 , , NA 20297 0.5179 NA 0.5447 False NA ,,, NA NA NA 2504 0.6452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY166792 CCDS33047.1 19q13.31 2013-01-08 ENSG00000159915 353355 Zinc fingers, C2H2-type, - 30946 protein-coding gene gene with protein product NA NA 12743021 Standard NM_181756 NM_001207005 NA Approved FLJ38032 uc021uvi.1 A6NK53 ENST00000592581.1:c.16-377C>T chr19.hg19:g.44769974C>T NA B2RN78|B2RN79|Q86WL8 hg19 0.02 -0.368002 CACxTTT COVERED NOVEL ZNF233-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000460734.1 2 2.742998 KEEP 0 1 31 20 667 CC 0.999869 0.899196 0 + 4 60 114 0 0 7.626015 37 60 1236 82 ENST00000592581.1 0.097561 0.899314 TOMM40 10452 __UNKNOWN__ __UNKNOWN__ 19 45396219 45396219 __UNKNOWN__ Intron SNP C C T rs157582 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:45396219C>T ENST00000426677.2 + 3 615 TOMM40_ENST00000252487.5_Intron|TOMM40_ENST00000405636.2_Intron|TOMM40_ENST00000592434.1_Intron NM_001128917.1 NP_001122389.1 O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) NA NA cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930) porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) TCATTGTATCCTTCTAATAAC 0.488 NA NA T||| 1471 0.29373 0.5076 0.2522 5008 , , NA 20552 0.2093 NA 0.2068 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 T ,, 2061,2345 583.8+/-385.9 481,1099,623 37 40 39 http://www.ncbi.nlm.nih.gov/pubmed?term ,, 0.4 0 19 dbSNP_79 39 1781,6819 715.3+/-406.0 178,1425,2697 no intron,intron,intron TOMM40 NM_001128916.1,NM_001128917.1,NM_006114.2 ,, 659,2524,3320 TT,TC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 20.7093,46.7771,29.5402 ,, ,, 45396219 3842,9164 2203 4300 6503 SO:0001627 intron_variant AF043250 CCDS12646.1 19q13 2008-07-04 ENSG00000130204 10452 18001 protein-coding gene gene with protein product 608061 NA 10980201, 15644312 Standard NM_006114 NA Approved PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1 uc002paa.4 O96008 ENST00000426677.2:c.435+33C>T chr19.hg19:g.45396219C>T NA Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95 hg19 CCDS12646.1 0.02 1.230552 ATCxTTC COVERED NOVEL TOMM40-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453241.1 4 17.756837 KEEP 0 0 0 59 2060 CC 1 0.999948 0 + 7 60 211 0 0 13.564643 89 60 3090 228 ENST00000426677.2 0.072917 0.999948 FBXO46 23403 __UNKNOWN__ __UNKNOWN__ 19 46214820 46214820 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:46214820C>T ENST00000317683.3 - 0 2067 NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 NA NA breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) AGCTCAGTTCCGGTGAGGGAT 0.637 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC021978 CCDS46116.1 19q13.3 2008-02-05 2004-06-15 2004-06-16 ENSG00000177051 23403 F-boxes / other 25069 protein-coding gene gene with protein product 609117 F-box only protein 34-like FBXO34L NA 9585442 Standard XM_371179 NM_001080469 NA Approved 20D7-FC4, Fbx46 uc002pcz.3 Q6PJ61 ENST00000317683.3:c.*122G>A chr19.hg19:g.46214820C>T NA hg19 CCDS46116.1 0.02 4.254737 TTCxGGT COVERED NOVEL FBXO46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459661.1 2 36.110739 KEEP 0 0 0 120 4014 CC 1 1 0 - 7 60 212 0 0 11.450802 189 60 6342 460 ENST00000317683.3 0.035714 1 CCDC114 93233 __UNKNOWN__ __UNKNOWN__ 19 48800557 48800557 __UNKNOWN__ Silent SNP G G A rs570425201 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:48800557G>A ENST00000315396.7 - 14 2371 c.1689C>T c.(1687-1689)ggC>ggT p.G563G NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 563 NA outer dynein arm assembly (GO:0036158) cilium (GO:0005929)|outer dynein arm (GO:0036157) cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) AGCTGAGGCCGCCAAAAGTGA 0.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 50 51 51 NA NA 19 NA 48800557 2203 4300 6503 SO:0001819 synonymous_variant BC025752 CCDS12714.2 19q13.32 2013-02-22 ENSG00000105479 ENSG00000105479 93233 26560 protein-coding gene gene with protein product 615038 NA 23261302, 23261303 Standard NM_144577 NM_144577 NA Approved FLJ32926, CILD20 uc002pir.2 Q96M63 OTTHUMG00000156161 ENST00000315396.7:c.1689C>T chr19.hg19:g.48800557G>A NA Q6ZRL4|Q96M06|Q9UFG8 hg19 CCDS12714.2 0.02 2.637638 GCCxCCA COVERED NOVEL CCDC114-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343207.1 1 28.018964 KEEP 0 1 31 104 3458 GG 1 1 0 - 6 60 169 0 0 9.025988 135 60 4590 339 ENST00000315396.7 0.042553 1 JOSD2 126119 __UNKNOWN__ __UNKNOWN__ 19 51009772 51009772 __UNKNOWN__ Silent SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:51009772C>T ENST00000598418.1 - 4 583 c.330G>A c.(328-330)tcG>tcA p.S110S JOSD2_ENST00000391815.3_Silent_p.S110S|JOSD2_ENST00000595669.1_Silent_p.S68S|JOSD2_ENST00000601423.1_Silent_p.S110S NM_001270639.1|NM_001270640.1 NP_001257568.1|NP_001257569.1 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 110 Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}. NA protein deubiquitination (GO:0016579) cytoplasm (GO:0005737) omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843) kidney(1)|lung(3)|prostate(1) 5 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) GCGACACGGGCGAGGGCAGGT 0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 7 8 7 NA NA 19 NA 51009772 2122 4144 6266 SO:0001819 synonymous_variant AF247787 CCDS12797.1, CCDS59413.1 19q13.33 2008-02-05 ENSG00000161677 126119 28853 protein-coding gene gene with protein product 615324 NA Standard NM_138334 NM_138334 NA Approved SBBI54 uc031rmi.1 Q8TAC2 ENST00000598418.1:c.330G>A chr19.hg19:g.51009772C>T NA M0QX25 hg19 CCDS12797.1 0.02 2.88375 GGGxGAG COVERED NOVEL JOSD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464902.1 0 4.984597 KEEP 0 5 140 66 2232 CC 1 0.999996 0 - 6 60 179 0 0 10.594886 107 60 3516 263 ENST00000598418.1 0.053097 0.999996 GPR32 2854 __UNKNOWN__ __UNKNOWN__ 19 51274851 51274851 __UNKNOWN__ Missense_Mutation SNP A A C rs201404376 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:51274851A>C ENST00000270590.4 + 1 1131 c.994A>C c.(994-996)Act>Cct p.T332P NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 332 NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887) G-protein coupled receptor activity (GO:0004930) breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCAGTCTTTGACTTCTGCCCT 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(113;152 1581 5732 15840 44398) NA 0 66 71 69 NA NA 19 NA 51274851 2203 4298 6501 SO:0001583 missense AF045764 CCDS12801.1 19q13.33 2012-08-20 ENSG00000142511 ENSG00000142511 2854 GPCR / Class A : Resolvin receptors 4487 protein-coding gene gene with protein product resolvin D1 receptor 603195 NA 9653656 Standard NM_001506 NA Approved RVDR1 uc010ycf.3 O75388 ENST00000270590.4:c.994A>C chr19.hg19:g.51274851A>C ENSP00000270590:p.Thr332Pro NA Q502U7|Q6NWS5 hg19 CCDS12801.1 0.02 1.760387 TTGxCTT COVERED . . . . . . . . . . a 0.006 -2.066505 0.00382 . . ENSG00000142511 ENST00000270590 T 0.36699 1.24 2.71 -0.781 0.10965 . . . . . T 0.12518 0.0304 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.31138 -0.9954 9 0.02654 T 1 . 3.6506 0.08202 0.205:0.5623:0.0:0.2327 . 332 O75388 GPR32_HUMAN P 332 ENSP00000270590:T332P ENSP00000270590:T332P T + 1 0 GPR32 55966663 0.000000 0.05858 0.025000 0.17156 0.653000 0.38743 0.089000 0.15002 -0.262000 0.09392 -0.755000 0.03482 ACT NOVEL GPR32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465016.1 5 3.711187 KEEP 3 3 96 46 1370 AA 1 0.999487 0 + 7 50 240 0 0 16.921008 76 60 2249 182 ENST00000270590.4 0.084337 0.999487 ZNF28 7576 __UNKNOWN__ __UNKNOWN__ 19 53301677 53301677 __UNKNOWN__ 3'UTR SNP A A G rs17770620 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:53301677A>G ENST00000457749.2 - 0 3540 ZNF28_ENST00000438150.2_3'UTR|ZNF28_ENST00000360272.4_3'UTR NM_006969.3 NP_008900.3 P17035 ZNF28_HUMAN zinc finger protein 28 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TTGCTATACTAATGGCATTTG 0.373 NA NA -||| 1936 0.386581 0.2882 0.1888 5008 , , NA 21800 0.7351 NA 0.3082 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X52355 CCDS33093.1, CCDS33093.2 19q13.41 2013-01-08 2006-05-10 ENSG00000198538 ENSG00000198538 7576 Zinc fingers, C2H2-type, - 13073 protein-coding gene gene with protein product NA zinc finger protein 28 (KOX 24) NA Standard NM_006969 NR_036599 NA Approved KOX24, DKFZp781D0275 uc002qad.3 P17035 OTTHUMG00000154564 ENST00000457749.2:c.*1264T>C chr19.hg19:g.53301677A>G NA A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56 hg19 CCDS33093.2 0.02 1.830678 ACTxATG COVERED NOVEL ZNF28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336038.2 3 13.230249 KEEP 0 0 0 44 1268 AA 1 0.998465 0 - 4 60 143 0 0 9.430076 71 60 2053 171 ENST00000457749.2 0.053333 0.998465 ZNF525 170958 __UNKNOWN__ __UNKNOWN__ 19 53884412 53884412 __UNKNOWN__ Intron SNP G G A rs4438413 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:53884412G>A ENST00000475179.1 + 4 256 ZNF525_ENST00000474037.1_Missense_Mutation_p.D194N|ZNF525_ENST00000467003.1_Missense_Mutation_p.D158N|ZNF525_ENST00000593918.1_Intron Q8N782 ZN525_HUMAN zinc finger protein 525 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(3)|kidney(3)|lung(3) 9 TAACTATGGGGATAATTTTCT 0.358 NA NA .||| 2772 0.553514 0.3253 0.7205 5008 , , NA 19206 0.5952 NA 0.6332 False NA ,,, NA NA NA 2504 0.6186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB075859 19q13.42 2013-01-16 ENSG00000203326 ENSG00000203326 170958 Zinc fingers, C2H2-type, - 29423 protein-coding gene gene with protein product NA NA 11853319 Standard NR_003699 NR_003699 NA Approved KIAA1979 uc010eqn.3 Q8N782 OTTHUMG00000158277 ENST00000475179.1:c.143-3811G>A chr19.hg19:g.53884412G>A NA Q8TF23 hg19 0.02 1.397291 GGGxATA COVERED 1212 0.554945054945055 159 0.3231707317073171 245 0.6767955801104972 329 0.5751748251748252 479 0.6319261213720316 A 0.043 -1.277500 0.01410 . . ENSG00000203326 ENST00000474037;ENST00000467003 T;T 0.27557 1.66;1.66 1.53 1.53 0.23141 . . . . . T 0.00012 0.0000 . . . 0.47183 P 6.599999999999939E-4 . . . . . . T 0.33650 -0.9860 5 0.12430 T 0.62 . 5.6092 0.17396 0.8386:0.0:0.1614:0.0 rs4438413;rs17737832;rs52820316;rs59255294;rs4438413 . . . N 194;158 ENSP00000417696:D194N;ENSP00000419136:D158N ENSP00000419136:D158N D + 1 0 ZNF525 58576224 0.001000 0.12720 0.001000 0.08648 0.002000 0.02628 0.420000 0.21263 -0.095000 0.12351 -0.945000 0.02674 GAT NOVEL ZNF525-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350553.1 4 15.649099 KEEP 0 0 0 52 1739 GG 1 0.99911 0 + 6 60 179 0 0 11.585448 72 60 2390 172 ENST00000475179.1 0.076923 0.99911 MYADM 91663 __UNKNOWN__ __UNKNOWN__ 19 54379035 54379035 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:54379035T>C ENST00000391769.2 + 0 2532 MYADM_ENST00000391770.4_3'UTR|MYADM_ENST00000336967.3_3'UTR|MYADM_ENST00000391771.1_3'UTR|AC008440.5_ENST00000413496.2_RNA NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker NA NA establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661) cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) acccgggaggtggaggttgca 0.517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF087882 CCDS12866.1 19q13.33-q13.4 2004-07-23 ENSG00000179820 ENSG00000179820 91663 7544 protein-coding gene gene with protein product 609959 NA 10733104, 12075932 Standard NM_138373 NM_001020818 NA Approved uc002qcl.3 Q96S97 OTTHUMG00000060775 ENST00000391769.2:c.*1283T>C chr19.hg19:g.54379035T>C NA B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9 hg19 CCDS12866.1 0.02 -0.271689 AGGxGGA COVERED NOVEL MYADM-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134337.1 3 3.903833 KEEP 0 0 0 13 356 TT 0.994391 0.713292 0 + 3 60 104 0 0 7.693911 25 60 669 58 ENST00000391769.2 0.107143 0.717315 LILRB5 10990 __UNKNOWN__ __UNKNOWN__ 19 54754385 54754385 __UNKNOWN__ 3'UTR SNP T T G rs2361796 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:54754385T>G ENST00000316219.5 - 0 2145 LILRB5_ENST00000345866.6_3'UTR|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000449561.2_3'UTR NM_001081442.1|NM_006840.3 NP_001074911.1|NP_006831.1 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 NA NA cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376) integral component of membrane (GO:0016021) transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) cattccaaatttataccatgc 0.289 NA NA .||| 1134 0.226438 0.1354 0.3905 5008 , , NA 19944 0.1141 NA 0.3241 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF025534 CCDS12885.1, CCDS42611.1, CCDS46176.1 19q13.4 2013-01-11 ENSG00000105609 ENSG00000105609 10990 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6609 protein-coding gene gene with protein product 604814 NA 9548455 Standard NM_006840 NA Approved LIR-8, LIR8, CD85c uc002qey.3 O75023 OTTHUMG00000066636 ENST00000316219.5:c.*265A>C chr19.hg19:g.54754385T>G NA Q8N760 hg19 CCDS12885.1 0.02 -0.385921 AATxTAT COVERED NOVEL LILRB5-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000142877.2 1 6.016626 KEEP 0 0 0 20 611 TT 0.999863 0.918045 0 - 3 60 104 0 0 7.077 41 60 1272 91 ENST00000316219.5 0.068182 0.918171 FCAR 2204 __UNKNOWN__ __UNKNOWN__ 19 55396900 55396900 __UNKNOWN__ Silent SNP A A G rs1865096 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:55396900A>G ENST00000355524.3 + 3 334 c.324A>G c.(322-324)agA>agG p.R108R FCAR_ENST00000345937.4_Silent_p.R108R|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000359272.4_Silent_p.R96R|FCAR_ENST00000391725.3_Silent_p.R108R|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Silent_p.R96R|FCAR_ENST00000391723.3_Silent_p.R96R|FCAR_ENST00000391724.3_Silent_p.R96R|FCAR_ENST00000469767.1_Silent_p.R108R NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 108 NA immune response (GO:0006955) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) GGCACTACAGATTCCGGTACA 0.458 NA NA .||| 3703 0.739417 0.8933 0.6167 5008 , , NA 17121 0.7341 NA 0.7157 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 GRCh37 CM044227 FCAR M rs1865096 G ,,,,,,,, 3767,639 275.7+/-272.7 1605,557,41 71 64 66 324,324,324,288,288,288,,288,324 2.1 0 19 dbSNP_92 66 6311,2289 386.1+/-341.7 2311,1689,300 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous FCAR NM_002000.2,NM_133269.2,NM_133271.2,NM_133272.2,NM_133273.2,NM_133274.2,NM_133277.2,NM_133278.2,NM_133279.2 ,,,,,,,, 3916,2246,341 GG,GA,AA 26.6163,14.503,22.5127 ,,,,,,,, 108/288,108/266,108/192,96/276,96/180,96/210,,96/254,108/240 55396900 10078,2928 2203 4300 6503 SO:0001819 synonymous_variant X54150 CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1 19q13.42 2013-01-29 ENSG00000186431 ENSG00000186431 2204 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3608 protein-coding gene gene with protein product 147045 NA 1577457 Standard NM_002000 NM_133269 NA Approved CD89 uc002qhr.1 P24071 OTTHUMG00000065936 ENST00000355524.3:c.324A>G chr19.hg19:g.55396900A>G NA Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0 hg19 CCDS12907.1 0.02 -0.420893 CAGxTTC COVERED NOVEL FCAR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000141243.1 3 6.016685 KEEP 0 0 0 20 590 AA 0.999863 0.948272 0 + 4 60 127 0 0 8.635252 44 60 1254 91 ENST00000355524.3 0.083333 0.948402 NLRP2 55655 __UNKNOWN__ __UNKNOWN__ 19 55501579 55501579 __UNKNOWN__ Intron SNP A A C rs1654495 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:55501579A>C ENST00000543010.1 + 9 2680 NLRP2_ENST00000448584.2_Intron|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000263437.6_Intron|NLRP2_ENST00000427260.2_Intron|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000537859.1_Intron NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 NA NA positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718) cytoplasm (GO:0005737) ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CTCCTCTCTTACAGAGCAGCT 0.517 NA NA C||| 1694 0.338259 0.3222 0.4669 5008 , , NA 19156 0.1786 NA 0.4543 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 C ,,, 1509,2897 674.9+/-403.0 248,1013,942 67 58 61 ,,, 0.6 0 19 dbSNP_89 61 3872,4728 607.7+/-395.3 880,2112,1308 no intron,intron,intron,intron NLRP2 NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3 ,,, 1128,3125,2250 CC,CA,AA 45.0233,34.2488,41.3732 ,,, ,,, 55501579 5381,7625 2203 4300 6503 SO:0001627 intron_variant AK000517 CCDS12913.1, CCDS54318.1, CCDS54319.1 19q13.42 2008-02-05 2006-12-08 2006-12-08 ENSG00000022556 ENSG00000022556 55655 Nucleotide-binding domain and leucine rich repeat containing 22948 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2 609364 NACHT, leucine rich repeat and PYD containing 2 NALP2 NA 12563287, 11270363 Standard NM_017852 NM_001174081 NA Approved FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9 uc021vbq.1 Q9NX02 OTTHUMG00000167763 ENST00000543010.1:c.2537+19A>C chr19.hg19:g.55501579A>C NA B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3 hg19 CCDS12913.1 0.02 -0.394579 CTTxCAG COVERED NOVEL NLRP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396152.1 1 6.015601 KEEP 0 0 0 20 576 AA 0.999863 0.926513 0 + 4 60 112 0 0 7.337536 39 60 1098 88 ENST00000543010.1 0.093023 0.92664 TMEM86B 255043 __UNKNOWN__ __UNKNOWN__ 19 55739605 55739605 __UNKNOWN__ Silent SNP C C T rs4606850 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:55739605C>T ENST00000327042.4 - 2 774 c.252G>A c.(250-252)tcG>tcA p.S84S AC010327.2_ENST00000598855.1_3'UTR NM_173804.4 NP_776165.3 Q8N661 TM86B_HUMAN transmembrane protein 86B 84 NA ether lipid metabolic process (GO:0046485) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020) alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409) skin(2) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) CCCCCACAGCCGAGCACACAA 0.657 NA NA C||| 842 0.168131 0.1989 0.2205 5008 , , NA 16486 0.0754 NA 0.1968 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 C 816,3588 68,680,1454 29 30 30 252 -10.8 0 19 dbSNP_111 30 1723,6877 180,1363,2757 no coding-synonymous TMEM86B NM_173804.4 248,2043,4211 TT,TC,CC 20.0349,18.5286,19.5248 84/227 55739605 2539,10465 2202 4300 6502 SO:0001819 synonymous_variant BC023000 CCDS12920.1 19q13.42 2011-07-12 255043 3.3.2.2, 3.3.2.5 28448 protein-coding gene gene with protein product NA NA 21515882 Standard NM_173804 NM_173804 NA Approved MGC30208 uc002qju.3 Q8N661 ENST00000327042.4:c.252G>A chr19.hg19:g.55739605C>T NA hg19 CCDS12920.1 0.02 -0.429515 AGCxGAG COVERED NOVEL TMEM86B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452659.1 1 6.018276 KEEP 0 0 0 20 639 CC 0.999863 0.95436 0 - 4 60 117 0 0 7.599404 45 60 1517 89 ENST00000327042.4 0.081633 0.954491 RPL28 6158 __UNKNOWN__ __UNKNOWN__ 19 55901843 55901843 __UNKNOWN__ Intron SNP C C G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:55901843C>G ENST00000560055.1 + 4 362 RPL28_ENST00000558815.1_Intron|RPL28_ENST00000344063.2_3'UTR|RPL28_ENST00000458349.2_Intron P46779 RL28_HUMAN ribosomal protein L28 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) aaagtgctggcattacaggcg 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U14969 CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1 19q13.4 2011-04-06 ENSG00000108107 6158 L ribosomal proteins 10330 protein-coding gene gene with protein product 60S ribosomal protein L28 603638 NA 7772601, 9582194 Standard NM_000991 NM_001136134 NA Approved FLJ43307, L28 uc010yga.2 P46779 ENST00000560055.1:c.324+2427C>G chr19.hg19:g.55901843C>G NA B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0 hg19 0.02 1.646167 TGGxATT COVERED NOVEL RPL28-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000416293.1 13 7.231807 KEEP 0 3 109 62 2146 CC 1 0.999948 0 + 5 60 164 0 0 10.357071 87 60 2996 201 ENST00000560055.1 0.054348 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 56284587 56284587 __UNKNOWN__ IGR SNP C C T rs200252021 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:56284587C>T NA NA RFPL4AL1 (42 upstream) : NLRP11 (12182 downstream) NA NA NA GTTTCAGTGCCCCCATAGCCA 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr19.hg19:g.56284587C>T NA hg19 0.02 1.654425 TGCxCCC COVERED NOVEL 0 5 8.598064 KEEP 12 2 64 51 1784 CC 1 0.989542 0 4 27 125 0 0 8.003223 57 60 2013 187 0.065574 0.989542 NLRP5 126206 __UNKNOWN__ __UNKNOWN__ 19 56520150 56520150 __UNKNOWN__ Intron SNP C C G rs12460592 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:56520150C>G ENST00000390649.3 + 3 442 NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 NA NA cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487) apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234) ATP binding (GO:0005524) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCTTTGTCTTCCAGGACATTC 0.473 NA NA G||| 1347 0.26897 0.2156 0.3919 5008 , , NA 19768 0.0942 NA 0.3529 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 G 1001,2805 144,713,1046 59 55 56 2.6 0.3 19 dbSNP_120 56 3029,5243 565,1899,1672 no intron NLRP5 NM_153447.4 709,2612,2718 GG,GC,CC 36.6175,26.3006,33.3665 56520150 4030,8048 1903 4136 6039 SO:0001627 intron_variant AY154460 CCDS12938.1 19q13.43 2008-10-30 2006-12-08 2006-12-08 ENSG00000171487 ENSG00000171487 126206 Nucleotide-binding domain and leucine rich repeat containing 21269 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5 609658 NACHT, leucine rich repeat and PYD containing 5 NALP5 NA 12563287, 11925379 Standard NM_153447 NM_153447 NA Approved PYPAF8, MATER, PAN11, CLR19.8 uc002qmj.3 P59047 OTTHUMG00000149887 ENST00000390649.3:c.443-4C>G chr19.hg19:g.56520150C>G NA A8MTY4|Q86W29 hg19 CCDS12938.1 0.02 -0.350909 CTTxCAG COVERED NOVEL NLRP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313735.1 1 6.320354 KEEP 0 0 0 21 718 CC 0.999869 0.877593 0 + 3 60 103 0 0 7.105737 37 60 1275 92 ENST00000390649.3 0.075 0.877708 AC004076.9 0 __UNKNOWN__ __UNKNOWN__ 19 57983081 57983081 __UNKNOWN__ Intron SNP C C A rs73065298 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:57983081C>A ENST00000596831.1 - 3 393 ZNF772_ENST00000343280.4_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_3'UTR|ZNF772_ENST00000600175.1_Intron NA NA NA tgctttgAAACtatttctcta 0.368 NA NA C||| 951 0.189896 0.2337 0.1643 5008 , , NA 18446 0.0992 NA 0.2475 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA NA ENST00000596831.1:c.199+3946G>T chr19.hg19:g.57983081C>A NA hg19 0.02 3.31774 AAAxTAT COVERED NOVEL AC004076.9-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000466461.1 6 15.350285 KEEP 0 0 0 51 1819 CC 1 0.999999 0 - 6 60 188 0 0 11.329517 114 60 4022 254 ENST00000596831.1 0.05 0.999999 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58374357 58374357 __UNKNOWN__ 3'UTR SNP T T G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:58374357T>G ENST00000339656.5 + 0 4759 ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_3'UTR|ZNF814_ENST00000595295.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) gtctcactctttcacccaggc 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*2849T>G chr19.hg19:g.58374357T>G NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 4.120224 TCTxTCA COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 14 13.812062 KEEP 0 2 51 64 1982 TT 1 0.999992 0 + 5 60 177 0 0 11.381622 99 60 3005 229 ENST00000339656.5 0.048077 0.999992 ZNF606 80095 __UNKNOWN__ __UNKNOWN__ 19 58490773 58490773 __UNKNOWN__ Silent SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:58490773T>C ENST00000341164.4 - 7 1895 c.1275A>G c.(1273-1275)gaA>gaG p.E425E ZNF606_ENST00000536132.1_Silent_p.E335E NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 425 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CATAGGGTTTTTCTCCAGTAT 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 47 49 48 NA NA 19 NA 58490773 2203 4300 6503 SO:0001819 synonymous_variant AB058755 CCDS12968.1 19q13.43 2013-01-08 ENSG00000166704 ENSG00000166704 80095 Zinc fingers, C2H2-type, - 25879 protein-coding gene gene with protein product 613905 ZNF328 NA 11347906 Standard NM_025027 XM_005259276 NA Approved FLJ14260, KIAA1852 uc002qqw.3 Q8WXB4 OTTHUMG00000169804 ENST00000341164.4:c.1275A>G chr19.hg19:g.58490773T>C NA A8KAN2|Q8NE04|Q96JH5 hg19 CCDS12968.1 0.02 -0.438493 TTTxTCT COVERED NOVEL ZNF606-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405961.1 13 6.618141 KEEP 0 0 0 22 651 TT 0.999879 0.959743 0 - 3 60 110 0 0 7.646372 42 60 1251 84 ENST00000341164.4 0.066667 0.959859 CTD-2368P22.1 0 __UNKNOWN__ __UNKNOWN__ 19 58518229 58518229 __UNKNOWN__ 3'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:58518229A>C ENST00000550135.1 + 0 2067 NA NA NA gcactccagcatgggcaaaaa 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA NA ENST00000550135.1:c.*862A>C chr19.hg19:g.58518229A>C NA hg19 0.02 6.351823 AGCxTGG COVERED NOVEL CTD-2368P22.1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000405971.1 27 7.048548 KEEP 1 4 148 75 2252 AA 1 1 0 + 9 60 312 0 0 20.938041 133 60 3989 338 ENST00000550135.1 0.06338 1 ZNF8 7554 __UNKNOWN__ __UNKNOWN__ 19 58806075 58806075 __UNKNOWN__ Missense_Mutation SNP G G A rs533980225 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr19:58806075G>A ENST00000196548.5 + 4 1032 c.901G>A c.(901-903)Gtc>Atc p.V301I AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.V301I P17098 ZNF8_HUMAN zinc finger protein 8 301 NA BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) CTCCTCCCTCGTCCAGCATGA 0.527 NA NA G||| 1 0.000199681 0 0 5008 , , NA 21482 0 NA 0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 91 89 90 NA NA 19 NA 58806075 2203 4300 6503 SO:0001583 missense M29581 CCDS12974.1 19q13.43 2013-01-08 2006-05-09 7554 Zinc fingers, C2H2-type, - 13154 protein-coding gene gene with protein product 194532 zinc finger protein 8 (clone HF.18) NA 2106481 Standard NM_021089 NM_021089 NA Approved HF.18, Zfp128 uc002qry.1 P17098 ENST00000196548.5:c.901G>A chr19.hg19:g.58806075G>A ENSP00000196548:p.Val301Ile NA Q6PI99 hg19 CCDS12974.1 0.02 1.201595 CTCxTCC COVERED . . . . . . . . . . G 13.12 2.142658 0.37825 . . ENSG00000083842 ENST00000196548;ENST00000546178 T 0.07688 3.17 4.82 4.82 0.62117 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.44285 D 0.000466 T 0.09818 0.0241 N 0.10837 0.055 0.26091 N 0.980951 D 0.76494 0.999 D 0.67548 0.952 T 0.34700 -0.9818 10 0.17369 T 0.5 -10.737 9.2474 0.37534 0.0969:0.0:0.9031:0.0 . 301 P17098 ZNF8_HUMAN I 301;16 ENSP00000196548:V301I ENSP00000196548:V301I V + 1 0 ZNF8 63497887 0.000000 0.05858 0.981000 0.43875 0.824000 0.46624 0.184000 0.16939 2.671000 0.90904 0.644000 0.83932 GTC NOVEL ZNF8-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000459135.1 3 13.843895 KEEP 0 0 0 46 1552 GG 1 0.999835 0 + 5 60 150 0 0 9.010559 85 60 2886 194 ENST00000196548.5 0.055556 0.999835 CSNK2A1 1457 __UNKNOWN__ __UNKNOWN__ 20 463059 463059 __UNKNOWN__ 3'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:463059A>C ENST00000217244.3 - 0 3097 CSNK2A1_ENST00000400227.3_Intron|CSNK2A1_ENST00000349736.5_3'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide NA NA axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580) ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CACACACACAAACACACAAAA 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M55265 CCDS13003.1, CCDS13004.1 20p13 2013-01-17 ENSG00000101266 ENSG00000101266 1457 2457 protein-coding gene gene with protein product 115440 NA 2174700, 1766873 Standard NM_001895 NM_177559 NA Approved uc002wdx.1 P68400 OTTHUMG00000031636 ENST00000217244.3:c.*1546T>G chr20.hg19:g.463059A>C NA B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065 hg19 CCDS13003.1 0.02 1.520876 ACAxACA COVERED NOVEL CSNK2A1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077466.1 15 2.710627 KEEP 0 3 103 45 1379 AA 1 0.999962 0 - 7 60 242 0 0 16.760355 86 60 2596 219 ENST00000217244.3 0.075269 0.999962 SDCBP2 27111 __UNKNOWN__ __UNKNOWN__ 20 1293046 1293046 __UNKNOWN__ Missense_Mutation SNP G G A rs1048621 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:1293046G>A ENST00000360779.3 - 7 840 c.667C>T c.(667-669)Cgc>Tgc p.R223C SDCBP2_ENST00000381808.3_Missense_Mutation_p.R138C|SDCBP2_ENST00000381812.1_Missense_Mutation_p.R223C|SDCBP2_ENST00000339987.3_Missense_Mutation_p.R223C NM_080489.4 NP_536737.3 Q9H190 SDCB2_HUMAN syndecan binding protein (syntenin) 2 223 PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}. NA R -> C (in dbSNP:rs1048621). intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 7 AGCCCGTTGCGGGCCGCAGAA 0.612 NA NA G||| 680 0.135783 0.149 0.1974 5008 , , NA 19368 0.0208 NA 0.2247 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 G CYS/ARG,CYS/ARG,CYS/ARG 737,3669 300.4+/-286.3 59,619,1525 77 62 67 667,412,667 2.8 1 20 dbSNP_86 67 2320,6280 380.0+/-339.5 312,1696,2292 yes missense,missense,missense SDCBP2 NM_001199784.1,NM_015685.5,NM_080489.4 180,180,180 371,2315,3817 AA,AG,GG 26.9767,16.7272,23.5045 probably-damaging,probably-damaging,probably-damaging 223/293,138/208,223/293 1293046 3057,9949 2203 4300 6503 SO:0001583 missense AF131809 CCDS13013.1, CCDS42848.1 20p13 2008-07-02 ENSG00000125775 ENSG00000125775 27111 15756 protein-coding gene gene with protein product NA NA 11152476 Standard NM_080489 NM_080489 NA Approved ST-2, SITAC18 uc021vzn.1 Q9H190 OTTHUMG00000031661 ENST00000360779.3:c.667C>T chr20.hg19:g.1293046G>A ENSP00000354013:p.Arg223Cys NA O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8 hg19 CCDS42848.1 0.02 6.013683 TGCxGGC COVERED 310 0.14194139194139194 61 0.12398373983739837 77 0.212707182320442 12 0.02097902097902098 160 0.21108179419525067 g 19.83 3.900364 0.72754 0.167272 0.269767 ENSG00000125775 ENST00000381812;ENST00000381808;ENST00000360779;ENST00000339987 T;T;T;T 0.29655 1.56;1.56;1.56;1.56 4.7 2.75 0.32379 PDZ/DHR/GLGF (4); 0.133760 0.51477 N 0.000093 T 0.00012 0.0000 M 0.93197 3.39 0.09310 P 0.999999283908 D 0.62365 0.991 P 0.55508 0.777 T 0.05068 -1.0908 9 0.87932 D 0 -22.5959 5.8309 0.18581 0.163:0.0:0.6836:0.1534 rs1048621;rs3188641;rs17718154;rs52811665;rs59907914;rs1048621 223 Q9H190 SDCB2_HUMAN C 223;138;223;223 ENSP00000371233:R223C;ENSP00000371229:R138C;ENSP00000354013:R223C;ENSP00000342935:R223C ENSP00000342935:R223C R - 1 0 SDCBP2 1241046 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 3.735000 0.55044 0.582000 0.29556 -0.291000 0.09656 CGC NOVEL SDCBP2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077513.2 8 45.753751 KEEP 0 1 31 163 5536 GG 1 1 0 - 9 60 274 0 0 14.996298 235 60 7970 584 ENST00000360779.3 0.036885 1 RP4-576H24.4 0 __UNKNOWN__ __UNKNOWN__ 20 1558985 1558985 __UNKNOWN__ Splice_Site SNP G G A rs200840558 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:1558985G>A ENST00000564763.1 - 2 496 c.432C>T c.(430-432)cgC>cgT p.R144R SIRPB1_ENST00000381605.4_Splice_Site_p.R144R|SIRPB1_ENST00000262929.5_Splice_Site_p.R143R|SIRPB1_ENST00000381603.3_Splice_Site_p.R144R NA NA NA TGTACTCACCGCGCACAGACA 0.552 NA NA A||| 3 0.000599042 0.0015 0 5008 , , NA 18196 0 NA 0.001 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 118 105 110 NA NA 20 NA 1558985 2196 4235 6431 SO:0001630 splice_region_variant NA NA NA NA NA ENST00000564763.1:c.433+1C>T chr20.hg19:g.1558985G>A NA hg19 0.02 2.903189 ACCxCGC COVERED NOVEL RP4-576H24.4-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000421423.1 5 13.313009 KEEP 3 2 65 67 2333 GG 1 0.999999 0 Silent - 13 43 396 0 0 27.789334 110 60 3817 287 ENST00000564763.1 0.105691 0.999999 SLC23A2 9962 __UNKNOWN__ __UNKNOWN__ 20 4839919 4839919 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:4839919G>A ENST00000379333.1 - 16 2113 SLC23A2_ENST00000338244.1_Intron|SLC23A2_ENST00000424750.2_Intron NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 NA NA L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767) apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 aaGTGTGTTTGATATATACCA 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 92 95 94 NA NA 20 NA 4839919 2203 4300 6503 SO:0001627 intron_variant AF058319 CCDS13085.1 20p13 2013-07-18 2013-07-18 2003-03-21 ENSG00000089057 ENSG00000089057 9962 Solute carriers 10973 protein-coding gene gene with protein product 603791 solute carrier family 23 (nucleobase transporters), member 1 SLC23A1 NA 9804989, 10331392 Standard NM_005116 NA Approved SVCT2, KIAA0238, YSPL2 uc002wlh.1 Q9UGH3 OTTHUMG00000031793 ENST00000379333.1:c.1720+15C>T chr20.hg19:g.4839919G>A NA B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85 hg19 CCDS13085.1 0.02 0.995313 TTTxATA COVERED NOVEL SLC23A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077832.1 12 17.153765 KEEP 0 0 0 57 1985 GG 1 0.999862 0 - 5 60 144 0 0 8.438013 84 60 2887 232 ENST00000379333.1 0.05618 0.999862 C20orf196 149840 __UNKNOWN__ __UNKNOWN__ 20 5737462 5737462 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:5737462A>G ENST00000303142.6 + 1 83 C20orf196_ENST00000378979.4_Intron NM_152504.2 NP_689717.2 Q8IYI0 CT196_HUMAN chromosome 20 open reading frame 196 NA NA endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 9 ttacaggcgtaagccaccaca 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057796 CCDS13091.1 20p12.3 2006-07-07 ENSG00000171984 ENSG00000171984 149840 26318 protein-coding gene gene with protein product NA NA 12477932 Standard NM_152504 NM_152504 NA Approved FLJ25067 uc002wmf.3 Q8IYI0 OTTHUMG00000031813 ENST00000303142.6:c.-5+6337A>G chr20.hg19:g.5737462A>G NA A8K9J3|Q5TGA9|Q96LU1 hg19 CCDS13091.1 0.02 1.616882 CGTxAGC COVERED NOVEL C20orf196-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077882.2 22 3.173714 KEEP 0 2 73 36 1044 AA 1 0.999804 0 + 5 60 175 0 0 11.65785 79 60 2301 168 ENST00000303142.6 0.059524 0.999804 HAO1 54363 __UNKNOWN__ __UNKNOWN__ 20 7866261 7866261 __UNKNOWN__ Intron SNP G G C rs2272813 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:7866261G>C ENST00000378789.3 - 7 1024 NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 NA NA cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281) peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) (S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AAGATACAGAGTGATTCAGAA 0.383 NA NA A||| 1708 0.341054 0.8079 0.1816 5008 , , NA 20301 0.4206 NA 0.0298 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 A 2994,1412 1032,930,241 86 78 81 2.4 0 20 dbSNP_100 81 292,8308 4,284,4012 no intron HAO1 NM_017545.2 1036,1214,4253 CC,CG,GG 3.3953,32.0472,25.2653 7866261 3286,9720 2203 4300 6503 SO:0001627 intron_variant AL021879 CCDS13100.1 20p12 2005-01-10 ENSG00000101323 ENSG00000101323 54363 1.1.3.15 4809 protein-coding gene gene with protein product 605023 GOX1 NA 9891009 Standard NM_017545 NA Approved GOX uc002wmw.1 Q9UJM8 OTTHUMG00000031841 ENST00000378789.3:c.973-24C>G chr20.hg19:g.7866261G>C NA Q14CQ0|Q9UPZ0|Q9Y3I7 hg19 CCDS13100.1 0.02 1.912476 AGAxTGA COVERED NOVEL HAO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077926.2 3 13.844997 KEEP 0 0 0 46 1615 GG 1 0.998993 0 - 4 60 142 0 0 9.305982 72 60 2526 170 ENST00000378789.3 0.052632 0.998993 CD93 22918 __UNKNOWN__ __UNKNOWN__ 20 23063207 23063207 __UNKNOWN__ 3'UTR SNP A A T rs6048536 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:23063207A>T ENST00000246006.4 - 0 3486 NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule NA NA macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032) cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) tgtgtgtgtgagagagagaga 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U94333 CCDS13149.1 20p11.21 2009-01-29 2006-03-28 2006-02-22 ENSG00000125810 ENSG00000125810 22918 CD molecules 15855 protein-coding gene gene with protein product 120577 matrix-remodelling associated 4, complement component 1, q subcomponent, receptor 1, CD93 antigen MXRA4, C1QR1 NA 9047234, 10648005 Standard NM_012072 NM_012072 NA Approved C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3 uc002wsv.3 Q9NPY3 OTTHUMG00000032058 ENST00000246006.4:c.*1380T>A chr20.hg19:g.23063207A>T NA O00274 hg19 CCDS13149.1 0.02 1.298244 GTGxGAG COVERED NOVEL CD93-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078312.2 26 6.185184 KEEP 1 2 55 40 1254 AA 1 0.99911 0 - 7 60 218 0 0 15.263379 63 60 1902 165 ENST00000246006.4 0.1 0.99911 GZF1 64412 __UNKNOWN__ __UNKNOWN__ 20 23352480 23352480 __UNKNOWN__ 3'UTR SNP A A G rs12349 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:23352480A>G ENST00000338121.5 + 0 3615 GZF1_ENST00000377051.2_3'UTR Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 NA NA branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TAAGTTCCAGAATGAACATGT 0.323 NA NA G||| 3472 0.693291 0.9153 0.5908 5008 , , NA 18826 0.8879 NA 0.4583 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025447 CCDS13151.1 20p11.21 2013-01-09 2006-09-19 2006-09-19 ENSG00000125812 ENSG00000125812 64412 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 15808 protein-coding gene gene with protein product 613842 zinc finger protein 336 ZNF336 NA 14522971, 16049025 Standard NM_022482 NM_022482 NA Approved dJ322G13.2, ZBTB23 uc002wsz.3 Q9H116 OTTHUMG00000032069 ENST00000338121.5:c.*1402A>G chr20.hg19:g.23352480A>G NA A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6 hg19 CCDS13151.1 0.02 1.736553 CAGxATG COVERED NOVEL GZF1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078333.1 5 6.015548 KEEP 0 0 0 20 601 AA 0.999863 0.991958 0 + 5 60 167 0 0 11.504923 58 60 1729 106 ENST00000338121.5 0.079365 0.992094 CST1 1469 __UNKNOWN__ __UNKNOWN__ 20 23728528 23728528 __UNKNOWN__ Silent SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:23728528C>T ENST00000304749.2 - 3 421 c.351G>A c.(349-351)ttG>ttA p.L117L CST1_ENST00000398402.1_Silent_p.L117L NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 117 NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951) extracellular space (GO:0005615) cysteine-type endopeptidase inhibitor activity (GO:0004869) p.L117L(1) kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) CGAAAGAGCACAACTGTTTCT 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) lung(1) 93 81 85 NA NA 20 NA 23728528 2203 4300 6503 SO:0001819 synonymous_variant M19169 CCDS13160.1 20p11.2 2008-04-15 ENSG00000170373 ENSG00000170373 1469 2473 protein-coding gene gene with protein product 123855 NA Standard NM_001898 NM_001898 NA Approved uc002wtp.3 P01037 OTTHUMG00000032085 ENST00000304749.2:c.351G>A chr20.hg19:g.23728528C>T NA Q96LE6|Q9UCQ6 hg19 CCDS13160.1 0.02 2.585202 GCAxAAC COVERED NOVEL CST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078351.2 10 13.810173 KEEP 6 2 54 65 2309 CC 1 0.999978 0 - 8 49 232 0 0 14.816737 95 60 3264 245 ENST00000304749.2 0.07767 0.999978 SYNDIG1 79953 __UNKNOWN__ __UNKNOWN__ 20 24645939 24645939 __UNKNOWN__ Intron SNP G G A rs2892217 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:24645939G>A ENST00000376862.3 + 4 1251 NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 NA NA intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091) cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803) breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 TGCTTGTTCCGACTTGCTTAC 0.557 NA NA A||| 3335 0.665935 0.9758 0.3919 5008 , , NA 19005 0.8671 NA 0.4085 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 A 3839,567 251.8+/-258.4 1681,477,45 73 84 80 -8.3 0 20 dbSNP_101 80 3578,5022 626.2+/-397.8 751,2076,1473 no intron SYNDIG1 NM_024893.1 2432,2553,1518 AA,AG,GG 41.6047,12.8688,42.9725 24645939 7417,5589 2203 4300 6503 SO:0001627 intron_variant AK024282 CCDS13164.1 20p11.21 2011-06-30 2011-06-30 2011-06-30 ENSG00000101463 ENSG00000101463 79953 15885 protein-coding gene gene with protein product interferon induced transmembrane protein domain containing 5, synapse differentiation induced gene 1 614311 chromosome 20 open reading frame 39, transmembrane protein 90B C20orf39, TMEM90B NA 20152115 Standard NM_024893 NM_024893 NA Approved FLJ14220, IFITMD5, SynDIG1 uc002wtw.1 Q9H7V2 OTTHUMG00000032104 ENST00000376862.3:c.619-43G>A chr20.hg19:g.24645939G>A NA Q6IA30|Q9H514 hg19 CCDS13164.1 0.02 3.046273 TCCxACT COVERED NOVEL SYNDIG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078376.1 6 28.287533 KEEP 0 0 0 94 3093 GG 1 0.999998 0 + 7 60 205 0 0 12.349627 110 60 3600 290 ENST00000376862.3 0.059829 0.999998 ENTPD6 955 __UNKNOWN__ __UNKNOWN__ 20 25193863 25193863 __UNKNOWN__ Intron SNP T T C rs2076560 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:25193863T>C ENST00000376652.4 + 5 616 ENTPD6_ENST00000354989.5_Intron|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000360031.2_Intron O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) NA NA response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026) cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 TATGCTGCACTTGACAGACCC 0.512 NA NA T||| 1463 0.292133 0.034 0.2205 5008 , , NA 22185 0.5913 NA 0.3449 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 T , 345,4061 175.5+/-204.9 20,305,1878 120 91 101 , -7.2 0 20 dbSNP_96 101 2762,5838 434.3+/-357.7 430,1902,1968 no intron,intron ENTPD6 NM_001114089.1,NM_001247.2 , 450,2207,3846 CC,CT,TT 32.1163,7.8302,23.889 , , 25193863 3107,9899 2203 4300 6503 SO:0001627 intron_variant AF039916 CCDS13170.1, CCDS46586.1 20p11.21 2010-06-24 2010-06-24 ENSG00000197586 ENSG00000197586 955 3368 protein-coding gene gene with protein product 603160 interleukin 6 signal transducer-2 CD39L2, IL6ST2 NA 9676430 Standard NM_001247 NA Approved NTPDase-6, dJ738P15.3 uc002wuj.2 O75354 OTTHUMG00000032116 ENST00000376652.4:c.454-36T>C chr20.hg19:g.25193863T>C NA A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1 hg19 CCDS13170.1 0.02 1.438549 CACxTGA COVERED NOVEL ENTPD6-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078414.2 3 9.024562 KEEP 0 0 0 30 895 TT 0.999997 0.992091 0 + 4 60 126 0 0 8.101826 57 60 1735 122 ENST00000376652.4 0.065574 0.992094 ENTPD6 955 __UNKNOWN__ __UNKNOWN__ 20 25193949 25193949 __UNKNOWN__ Silent SNP G G A rs2076561 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:25193949G>A ENST00000376652.4 + 5 667 c.504G>A c.(502-504)ccG>ccA p.P168P ENTPD6_ENST00000354989.5_Silent_p.P151P|ENTPD6_ENST00000433259.2_Silent_p.P168P|ENTPD6_ENST00000360031.2_Silent_p.P167P O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 168 NA response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026) cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 AGGACATTCCGTTCGACTTCT 0.547 NA NA G||| 1553 0.310104 0.0983 0.2262 5008 , , NA 20740 0.5913 NA 0.3459 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 G , 619,3787 269.2+/-268.9 42,535,1626 169 127 141 453,504 -11.6 0 20 dbSNP_96 141 2765,5835 439.7+/-359.3 431,1903,1966 no coding-synonymous,coding-synonymous ENTPD6 NM_001114089.1,NM_001247.2 , 473,2438,3592 AA,AG,GG 32.1512,14.049,26.0188 , 151/468,168/485 25193949 3384,9622 2203 4300 6503 SO:0001819 synonymous_variant AF039916 CCDS13170.1, CCDS46586.1 20p11.21 2010-06-24 2010-06-24 ENSG00000197586 ENSG00000197586 955 3368 protein-coding gene gene with protein product 603160 interleukin 6 signal transducer-2 CD39L2, IL6ST2 NA 9676430 Standard NM_001247 NA Approved NTPDase-6, dJ738P15.3 uc002wuj.2 O75354 OTTHUMG00000032116 ENST00000376652.4:c.504G>A chr20.hg19:g.25193949G>A NA A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1 hg19 CCDS13170.1 0.02 1.216756 TCCxTTC COVERED 755 0.3456959706959707 59 0.11991869918699187 92 0.2541436464088398 346 0.6048951048951049 258 0.3403693931398417 G 0.470 -0.885057 0.02511 0.14049 0.321512 ENSG00000197586 ENST00000433417;ENST00000447877 . . . 5.79 -11.6 0.00059 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.99999999861442 . . . . . . T 0.26608 -1.0098 3 . . . -1.1705 1.9584 0.03381 0.1245:0.3117:0.2786:0.2853 rs2076561;rs17250460;rs58880188;rs2076561 . . . H 89;61 . . R + 2 0 ENTPD6 25141949 0.000000 0.05858 0.008000 0.14137 0.056000 0.15407 -2.000000 0.01466 -3.712000 0.00117 -2.589000 0.00165 CGT NOVEL ENTPD6-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078414.2 3 14.144805 KEEP 0 0 0 47 1588 GG 1 0.998867 0 + 5 60 145 0 0 8.861874 72 60 2414 171 ENST00000376652.4 0.064935 0.998867 FAM182B 728882 __UNKNOWN__ __UNKNOWN__ 20 25753941 25753941 __UNKNOWN__ Intron SNP G G A rs78047624 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:25753941G>A ENST00000478164.1 - 3 645 FAM182B_ENST00000376404.2_Intron Q5T319 F182B_HUMAN family with sequence similarity 182, member B NA NA lung(1) 1 GGTGTGCATCGGTCCCCAGGT 0.532 NA NA .||| 1 0.000199681 0 0.0014 5008 , , NA 24732 0 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20p11.1 2010-07-14 ENSG00000175170 ENSG00000175170 728882 34503 pseudogene pseudogene NA NA Standard NR_026714 NR_027061 NA Approved Q5T319 OTTHUMG00000032136 ENST00000478164.1:c.347+1804C>T chr20.hg19:g.25753941G>A NA Q4G0Q1 hg19 0.02 1.423584 ATCxGTC COVERED NOVEL FAM182B-005 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000316665.1 5 5.852953 KEEP 8 1 30 30 1013 GG 0.999997 0.998693 0 - 6 43 184 0 0 12.663585 57 60 1896 174 ENST00000478164.1 0.095238 0.998696 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26063993 26063993 __UNKNOWN__ RNA SNP A A G rs202066058 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:26063993A>G ENST00000376398.2 + 0 1510 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 CTGAGACTTGATGTTTAATAT 0.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown NA chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26063993A>G NA A2RRD0|Q8N947 hg19 0.02 4.073062 TTGxTGT COVERED NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 9 3.790725 KEEP 21 3 110 51 1586 AA 1 0.999978 0 + 7 27 247 0 0 18.602256 54 60 1677 268 ENST00000376398.2 0.114754 0.999978 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26064021 26064021 __UNKNOWN__ RNA SNP G G T rs76817215 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:26064021G>T ENST00000376398.2 + 0 1538 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 AGTTCTTTTGGGGCCTGTTGT 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown NA chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26064021G>T NA A2RRD0|Q8N947 hg19 0.02 3.306042 TTGxGGC COVERED NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 11 5.623392 KEEP 19 3 95 52 1835 GG 1 0.999995 0 + 9 27 282 0 0 20.955988 59 60 2086 303 ENST00000376398.2 0.132353 0.999995 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628215 29628215 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29628215T>C ENST00000278882.3 + 6 608 FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000439954.2_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTGTTATTTTGTTTCACTTA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.229-12T>C chr20.hg19:g.29628215T>C NA C4AME5 hg19 0.02 23.483829 TTTxGTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 49 37.957336 KEEP 37 19 646 352 10610 TT 1 1 0 + 24 44 791 1 0 48.625549 483 60 14463 1569 ENST00000278882.3 0.047337 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628236 29628236 __UNKNOWN__ Missense_Mutation SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 80 NA p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8 Substitution - Missense(8) prostate(4)|kidney(4) NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.238G>C chr20.hg19:g.29628236G>C ENSP00000278882:p.Ala80Pro NA C4AME5 hg19 0.02 24.506997 ATGxCTT COVERED . . . . . . . . . . g 15.73 2.920277 0.52653 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.57595 0.39 2.08 2.08 0.27032 Actin cross-linking (1); 0.052409 0.85682 D 0.000000 T 0.68952 0.3057 . . . 0.80722 D 1 D;D 0.64830 0.994;0.988 D;D 0.85130 0.997;0.993 T 0.72766 -0.4194 9 0.87932 D 0 . 10.2211 0.43198 0.0:0.0:1.0:0.0 . 85;80 F5H5R5;Q9BZ01 .;FRG1B_HUMAN P 80;85;80 ENSP00000408863:A85P ENSP00000278882:A80P A + 1 0 FRG1B 28241897 1.000000 0.71417 1.000000 0.80357 0.334000 0.28698 8.494000 0.90477 1.475000 0.48197 0.423000 0.28283 GCT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 50 47.952956 KEEP 56 16 581 362 12916 GG 1 1 0 + 20 60 692 0 0 42.227253 484 60 16977 1626 ENST00000278882.3 0.039683 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628251 29628251 __UNKNOWN__ Missense_Mutation SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 85 NA p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) kidney(2) NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.253A>G chr20.hg19:g.29628251A>G ENSP00000278882:p.Asn85Asp NA C4AME5 hg19 0.02 27.989895 TCAxATA COVERED . . . . . . . . . . a 15.78 2.933773 0.52866 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.50277 0.75 2.08 2.08 0.27032 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.46619 0.1402 . . . 0.45390 D 0.998378 B;B 0.26809 0.086;0.16 B;B 0.40329 0.326;0.253 T 0.51553 -0.8691 9 0.66056 D 0.02 . 8.0833 0.30758 1.0:0.0:0.0:0.0 . 90;85 F5H5R5;Q9BZ01 .;FRG1B_HUMAN D 85;90;85 ENSP00000408863:N90D ENSP00000278882:N85D N + 1 0 FRG1B 28241912 1.000000 0.71417 1.000000 0.80357 0.799000 0.45148 8.047000 0.89440 1.208000 0.43306 0.347000 0.21830 AAT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 43 49.573467 KEEP 57 15 546 355 11348 AA 1 1 0 + 40 60 1405 0 0 99.293726 454 60 14104 1577 ENST00000278882.3 0.080972 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632643 29632643 __UNKNOWN__ Missense_Mutation SNP T T C rs143379667 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29632643T>C ENST00000278882.3 + 8 838 c.458T>C c.(457-459)cTt>cCt p.L153P FRG1B_ENST00000358464.4_Missense_Mutation_p.L153P Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 153 NA p.L153P(10) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GACCACAAACTTAAAATAAGT 0.294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10 Substitution - Missense(10) endometrium(6)|kidney(4) NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.458T>C chr20.hg19:g.29632643T>C ENSP00000278882:p.Leu153Pro NA C4AME5 hg19 0.02 25.444391 AACxTAA COVERED . . . . . . . . . . t 12.77 2.038665 0.35989 . . ENSG00000149531 ENST00000278882;ENST00000358464 . . . 1.44 1.44 0.22558 . 0.000000 0.64402 U 0.000001 T 0.50463 0.1617 . . . 0.80722 D 1 P 0.35033 0.481 B 0.40038 0.317 T 0.53187 -0.8474 8 0.87932 D 0 . 6.9831 0.24713 0.0:0.0:0.0:1.0 . 153 Q9BZ01 FRG1B_HUMAN P 153 . ENSP00000278882:L153P L + 2 0 FRG1B 28246304 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 6.723000 0.74742 0.925000 0.37094 0.327000 0.21459 CTT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 42 47.327111 KEEP 143 22 797 435 13929 TT 1 1 0 + 42 60 1451 0 0 100.555704 513 70 16035 1716 ENST00000278882.3 0.075676 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632664 29632664 __UNKNOWN__ Missense_Mutation SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29632664G>T ENST00000278882.3 + 8 859 c.479G>T c.(478-480)aGt>aTt p.S160I FRG1B_ENST00000358464.4_Missense_Mutation_p.S160I Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 160 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAAGAAGAGAGTAAAATTCTT 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.479G>T chr20.hg19:g.29632664G>T ENSP00000278882:p.Ser160Ile NA C4AME5 hg19 0.02 19.975435 AGAxTAA COVERED . . . . . . . . . . g 2.920 -0.223331 0.06061 . . ENSG00000149531 ENST00000278882;ENST00000358464 . . . 1.44 -0.673 0.11373 . 0.629622 0.15865 U 0.240820 T 0.16642 0.0400 . . . 0.09310 N 1 B 0.23249 0.082 B 0.24701 0.055 T 0.17592 -1.0364 8 0.19590 T 0.45 . 1.8931 0.03252 0.3573:0.0:0.373:0.2698 . 160 Q9BZ01 FRG1B_HUMAN I 160 . ENSP00000278882:S160I S + 2 0 FRG1B 28246325 0.994000 0.37717 0.981000 0.43875 0.941000 0.58515 1.335000 0.33839 -0.171000 0.10797 -0.551000 0.04211 AGT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 47 72.002616 KEEP 124 19 607 452 16348 GG 1 1 0 + 17 49 527 0 0 28.002719 528 70 18631 1699 ENST00000278882.3 0.031193 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632680 29632680 __UNKNOWN__ Silent SNP G G A rs4892355 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29632680G>A ENST00000278882.3 + 8 875 c.495G>A c.(493-495)aaG>aaA p.K165K FRG1B_ENST00000358464.4_Silent_p.K165K Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 165 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTCTTAAAAAGGCTCAGAAAG 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.495G>A chr20.hg19:g.29632680G>A NA C4AME5 hg19 0.02 20.182712 AAAxGCT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 39 52.472858 KEEP 101 23 744 435 15308 GG 1 1 0 + 37 49 1141 1 0 74.048177 477 67 16812 1565 ENST00000278882.3 0.071984 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633861 29633861 __UNKNOWN__ Intron SNP A A T rs80250025 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29633861A>T ENST00000278882.3 + 9 916 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CATGTTTTACATAGATTAATT 0.274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.537-37A>T chr20.hg19:g.29633861A>T NA C4AME5 hg19 0.02 3.089897 TACxTAG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 8 6.988501 KEEP 17 5 153 77 2346 AA 1 1 0 + 11 60 328 0 1 22.222972 106 60 3210 295 ENST00000278882.3 0.094017 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633945 29633945 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29633945G>A ENST00000278882.3 + 0 964 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGGAATTTTTGTTTCTGCCTT 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*35G>A chr20.hg19:g.29633945G>A NA C4AME5 hg19 0.02 13.296203 TTTxTTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 21 7.736614 KEEP 50 21 617 243 8543 GG 1 1 0 + 44 60 1258 0 0 88.067011 329 60 11431 1073 ENST00000278882.3 0.117962 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633957 29633957 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29633957T>C ENST00000278882.3 + 0 976 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTCTGCCTTATCTTTTTGTGT 0.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*47T>C chr20.hg19:g.29633957T>C NA C4AME5 hg19 0.02 20.567148 TTAxCTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 28 26.6212 KEEP 53 16 548 280 8421 TT 1 1 0 + 24 60 781 0 0 49.051292 430 60 12746 1220 ENST00000278882.3 0.052863 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633983 29633983 __UNKNOWN__ 3'UTR SNP A A G rs76742789 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29633983A>G ENST00000278882.3 + 0 1002 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTTCTGAATAAAATATTCAG 0.308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*73A>G chr20.hg19:g.29633983A>G NA C4AME5 hg19 0.02 23.680593 AATxAAA COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 34 40.655773 KEEP 49 16 543 325 9619 AA 1 1 0 + 29 60 959 0 0 60.568172 519 70 15175 1463 ENST00000278882.3 0.05292 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633987 29633987 __UNKNOWN__ 3'UTR SNP T T A rs4006817 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29633987T>A ENST00000278882.3 + 0 1006 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CTGAATAAAATATTCAGAGGA 0.308 NA NA .||| 743 0.148363 0.0446 0.1657 5008 , , NA 33780 0.1984 NA 0.166 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*77T>A chr20.hg19:g.29633987T>A NA C4AME5 hg19 0.02 19.103332 AAAxATT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 35 25.313188 KEEP 46 23 690 327 9807 TT 1 1 0 + 37 60 1130 0 0 70.985627 542 70 15985 1519 ENST00000278882.3 0.063903 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29634002 29634002 __UNKNOWN__ 3'UTR SNP C C A rs371593782 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29634002C>A ENST00000278882.3 + 0 1021 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAGGAAATGCTTTTACAGAG 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown NA chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*92C>A chr20.hg19:g.29634002C>A NA C4AME5 hg19 0.02 18.830227 ATGxTTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 37 52.023383 KEEP 45 16 484 343 12371 CC 1 1 0 + 35 70 1069 1 0 65.85357 560 70 20156 1546 ENST00000278882.3 0.058824 1 DEFB119 245932 __UNKNOWN__ __UNKNOWN__ 20 29976949 29976949 __UNKNOWN__ Intron SNP C C T rs17327630 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:29976949C>T ENST00000376321.3 - 1 181 DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376315.2_Missense_Mutation_p.C49Y NM_153289.3 NP_695021.2 Q8N690 DB119_HUMAN defensin, beta 119 NA NA defense response to bacterium (GO:0042742) extracellular region (GO:0005576) large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGGAACACAGCACCGTTTACG 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 202 174 183 NA NA 20 NA 29976949 2203 4300 6503 SO:0001627 intron_variant AA939044 CCDS13178.1, CCDS33455.1 20q11.21 2007-02-19 2003-10-06 ENSG00000180483 ENSG00000180483 245932 Defensins, beta 18099 protein-coding gene gene with protein product NA defensin, beta 120 DEFB120 NA 11854508 Standard NM_153289 NM_153289 NA Approved DEFB-19, DEFB-20 uc002wvu.2 Q8N690 OTTHUMG00000032172 ENST00000376321.3:c.61+1276G>A chr20.hg19:g.29976949C>T NA Q5GRG1|Q5JWP1|Q5TH42|Q8N689 hg19 CCDS13178.1 0.02 0.977782 CAGxACC COVERED . . . . . . . . . . C 25.6 4.651098 0.88056 . . ENSG00000180483 ENST00000376315 D 0.99270 -5.66 3.49 3.49 0.39957 . 0.315296 0.23494 N 0.047563 D 0.99236 0.9734 . . . 0.36989 D 0.894674 D 0.89917 1.0 D 0.87578 0.998 D 0.99589 1.0975 9 0.87932 D 0 -9.2329 10.7899 0.46426 0.0:1.0:0.0:0.0 . 49 Q8N690-2 . Y 49 ENSP00000365492:C49Y ENSP00000365492:C49Y C - 2 0 DEFB119 29440610 0.988000 0.35896 0.995000 0.50966 0.986000 0.74619 0.889000 0.28282 2.263000 0.75096 0.563000 0.77884 TGC NOVEL DEFB119-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078514.1 8 9.465291 KEEP 0 1 30 42 1481 CC 1 0.999895 0 - 7 60 188 1 0 11.445488 84 60 2896 184 ENST00000376321.3 0.076923 0.999895 CBFA2T2 9139 __UNKNOWN__ __UNKNOWN__ 20 32161876 32161876 __UNKNOWN__ Intron SNP A A T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:32161876A>T ENST00000342704.6 + 2 215 CBFA2T2_ENST00000344201.3_Intron|CBFA2T2_ENST00000397798.2_5'UTR|CBFA2T2_ENST00000346541.3_5'UTR|CBFA2T2_ENST00000375279.2_5'UTR|CBFA2T2_ENST00000397800.1_Intron|CBFA2T2_ENST00000492345.1_5'UTR NM_001032999.2 NP_001028171.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 NA NA epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 attacaggcaagagccaccat 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(174;142 1955 14837 21276 28041) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052210 CCDS13221.1, CCDS46590.1 20q11 2007-01-29 ENSG00000078699 ENSG00000078699 9139 Zinc fingers, MYND-type 1536 protein-coding gene gene with protein product 603672 NA 9790752 Standard NM_001032999 XM_006723886 NA Approved MTGR1, ZMYND3 uc002wze.1 O43439 OTTHUMG00000032261 ENST00000342704.6:c.35-32886A>T chr20.hg19:g.32161876A>T NA B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24 hg19 CCDS46590.1 0.02 4.955255 GCAxGAG COVERED NOVEL CBFA2T2-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471953.1 28 15.713146 KEEP 0 2 56 72 2263 AA 1 1 0 + 10 60 302 0 0 19.471577 126 60 3911 309 ENST00000342704.6 0.073529 1 SGK2 10110 __UNKNOWN__ __UNKNOWN__ 20 42199743 42199743 __UNKNOWN__ Intron SNP A A T rs112312235 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:42199743A>T ENST00000373100.1 + 9 970 SGK2_ENST00000341458.4_Intron|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000423407.3_Intron|SGK2_ENST00000426287.1_Intron|SGK2_ENST00000373077.1_Intron Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 NA NA intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) gtgtgtgtgtatgtgGTTGCA 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF169034 CCDS13320.1, CCDS13321.1 20q13.2 2008-07-04 ENSG00000101049 ENSG00000101049 10110 13900 protein-coding gene gene with protein product 607589 NA 10548550 Standard NM_016276 NA Approved uc002xkv.3 Q9HBY8 OTTHUMG00000033054 ENST00000373100.1:c.510+43A>T chr20.hg19:g.42199743A>T NA Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6 hg19 CCDS13321.1 0.02 -0.333247 TGTxTGT COVERED NOVEL SGK2-005 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080386.1 18 5.414365 KEEP 0 0 0 18 527 AA 0.99986 0.908941 0 + 3 60 98 0 0 6.827013 31 60 889 90 ENST00000373100.1 0.088235 0.909069 ADA 100 __UNKNOWN__ __UNKNOWN__ 20 43252660 43252660 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:43252660C>T ENST00000537820.1 - 6 690 PKIG_ENST00000372887.1_3'UTR|ADA_ENST00000464097.1_Intron|ADA_ENST00000372874.4_Intron P00813 ADA_HUMAN adenosine deaminase NA NA adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111) cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) gtgctgggatcacaggcatga 0.532 NA NA Adenosine Deaminase Deficiency NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Severe Combined Immunodeficiency (SCID) due to ADA-deficiency X02994 CCDS13335.1 20q13.12 2014-09-17 ENSG00000196839 ENSG00000196839 100 3.5.4.4 186 protein-coding gene gene with protein product 608958 NA 6198240, 6090454 Standard NM_000022 NM_000022 NA Approved uc002xmj.3 P00813 OTTHUMG00000033081 ENST00000537820.1:c.606+182G>A chr20.hg19:g.43252660C>T NA Q53F92|Q6LA59 hg19 0.02 3.847633 GATxACA COVERED NOVEL ADA-008 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000402954.1 42 7.896974 KEEP 0 8 226 106 3659 CC 1 1 0 - 8 60 219 0 0 11.786851 160 70 5495 415 ENST00000537820.1 0.047619 1 WFDC12 128488 __UNKNOWN__ __UNKNOWN__ 20 43752168 43752168 __UNKNOWN__ 3'UTR SNP T T A rs6104017 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:43752168T>A ENST00000372785.3 - 0 672 NM_080869.1 NP_543145.1 Q8WWY7 WFD12_HUMAN WAP four-disulfide core domain 12 NA NA defense response to bacterium (GO:0042742)|negative regulation of endopeptidase activity (GO:0010951) extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 Myeloproliferative disorder(115;0.0122) ccagtttctcttctctgacag 0.463 NA NA A||| 1723 0.34405 0.5023 0.3545 5008 , , NA 16746 0.1577 NA 0.4314 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z93016 CCDS13343.1 20q13.12 2013-01-21 2003-02-21 2003-02-21 ENSG00000168703 ENSG00000168703 128488 WAP four-disulfide core domain containing 16115 protein-coding gene gene with protein product 609872 chromosome 20 open reading frame 122 C20orf122 NA 11779191, 12206714 Standard NM_080869 NA Approved dJ211D12.4, WAP2 uc002xnf.1 Q8WWY7 OTTHUMG00000046412 ENST00000372785.3:c.*319A>T chr20.hg19:g.43752168T>A NA Q5H980|Q9BR31 hg19 CCDS13343.1 0.02 -0.114004 CTCxTCT UNCOVERED NOVEL WFDC12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000107194.1 0 2.708272 KEEP 0 0 0 9 285 TT 0.99254 0.161255 0 - 8 60 238 0 0 24.297139 4 60 117 32 ENST00000372785.3 0.666667 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 44517165 44517165 __UNKNOWN__ IGR SNP A A G rs74212978 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:44517165A>G NA NA SPATA25 (891 upstream) : NEURL2 (107 downstream) NA NA NA gactctaacaagcagccagcc 0.488 NA NA A||| 440 0.0878594 0.1021 0.0418 5008 , , NA 18271 0.1032 NA 0.0517 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr20.hg19:g.44517165A>G NA hg19 0.02 1.681253 ACAxGCA COVERED NOVEL 0 4 15.046104 KEEP 0 0 0 50 1590 AA 1 0.999881 0 4 60 141 0 0 8.866648 88 60 2780 200 0.043478 0.999881 B4GALT5 9334 __UNKNOWN__ __UNKNOWN__ 20 48250842 48250842 __UNKNOWN__ 3'UTR SNP T T C rs538104535|rs145820400 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:48250842T>C ENST00000371711.4 - 0 3361 NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) CCcacacacatacacacacac 0.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB004550 CCDS13420.1 20q13.1-q13.2 2013-02-19 ENSG00000158470 ENSG00000158470 9334 Beta 4-glycosyltransferases 928 protein-coding gene gene with protein product beta4-GalT IV 604016 NA 9597550, 9435216 Standard NM_004776 NM_004776 NA Approved beta4GalT-V uc002xuu.4 O43286 OTTHUMG00000033086 ENST00000371711.4:c.*2007A>G chr20.hg19:g.48250842T>C NA E1P625|Q2M394|Q9UJQ8 hg19 CCDS13420.1 0.02 3.864063 ACAxACA COVERED NOVEL B4GALT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080543.3 18 6.392425 KEEP 0 3 108 59 1675 TT 1 1 0 - 8 60 260 0 0 17.238746 108 60 2963 233 ENST00000371711.4 0.068966 1 PARD6B 84612 __UNKNOWN__ __UNKNOWN__ 20 49367076 49367076 __UNKNOWN__ Intron SNP T T G rs6020721 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:49367076T>G ENST00000396039.1 + 3 411 PARD6B_ENST00000371610.2_3'UTR Q9BYG5 PAR6B_HUMAN par-6 family cell polarity regulator beta NA NA axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830) apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11 GACTTGTACATTTGGCTAGTT 0.373 NA NA T||| 1993 0.397963 0.1293 0.4611 5008 , , NA 23450 0.6597 NA 0.339 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 T 760,3602 77,606,1498 15 15 15 5.2 0 20 dbSNP_114 15 2823,5713 486,1851,1931 no utr-3 PARD6B NM_032521.2 563,2457,3429 GG,GT,TT 33.0717,17.4232,27.7795 49367076 3583,9315 2181 4268 6449 SO:0001627 intron_variant AB044555 CCDS33485.1 20q13.13 2013-08-28 2013-08-28 ENSG00000124171 ENSG00000124171 84612 16245 protein-coding gene gene with protein product 608975 par-6 (partitioning defective 6, C.elegans) homolog beta, par-6 partitioning defective 6 homolog beta (C. elegans) NA 11260256 Standard NM_032521 NM_032521 NA Approved PAR-6B uc002xvo.3 Q9BYG5 OTTHUMG00000032732 ENST00000396039.1:c.290-6146T>G chr20.hg19:g.49367076T>G NA A2A2A7|Q9Y510 hg19 0.02 6.169938 ACAxTTG COVERED NOVEL PARD6B-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000258383.1 7 40.018265 KEEP 0 0 0 133 4159 TT 1 1 0 + 6 60 219 0 0 13.723342 150 60 4674 436 ENST00000396039.1 0.038462 1 TSHZ2 128553 __UNKNOWN__ __UNKNOWN__ 20 51802154 51802154 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:51802154A>G ENST00000371497.5 + 2 927 TSHZ2_ENST00000329613.6_5'UTR|TSHZ2_ENST00000603338.2_5'UTR NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 NA NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) gcaagactccatctcaaaaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF230201 CCDS33490.1, CCDS54474.1 20q13.2 2013-11-20 2007-07-16 2006-03-14 ENSG00000182463 ENSG00000182463 128553 Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type 13010 protein-coding gene gene with protein product 614118 chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2 C20orf17, ZNF218 NA 9671742 Standard NM_173485 NM_173485 NA Approved ZABC2, OVC10-2, TSH2 uc021wex.1 Q9NRE2 OTTHUMG00000033058 ENST00000371497.5:c.41-67884A>G chr20.hg19:g.51802154A>G NA B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260 hg19 CCDS33490.1 0.02 3.578745 TCCxTCT COVERED NOVEL TSHZ2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080398.6 49 16.487445 KEEP 0 4 141 104 3152 AA 1 1 0 + 5 60 173 0 1 10.522806 123 60 3729 363 ENST00000371497.5 0.039062 1 TSHZ2 128553 __UNKNOWN__ __UNKNOWN__ 20 51871917 51871917 __UNKNOWN__ Silent SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:51871917T>A ENST00000371497.5 + 2 2807 c.1920T>A c.(1918-1920)ccT>ccA p.P640P TSHZ2_ENST00000329613.6_Silent_p.P637P|TSHZ2_ENST00000603338.2_Silent_p.P637P NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 640 NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GTGAAACACCTCCAGAAGCCA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 53 59 57 NA NA 20 NA 51871917 2203 4300 6503 SO:0001819 synonymous_variant AF230201 CCDS33490.1, CCDS54474.1 20q13.2 2013-11-20 2007-07-16 2006-03-14 ENSG00000182463 ENSG00000182463 128553 Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type 13010 protein-coding gene gene with protein product 614118 chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2 C20orf17, ZNF218 NA 9671742 Standard NM_173485 NM_173485 NA Approved ZABC2, OVC10-2, TSH2 uc021wex.1 Q9NRE2 OTTHUMG00000033058 ENST00000371497.5:c.1920T>A chr20.hg19:g.51871917T>A NA B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260 hg19 CCDS33490.1 0.02 2.690575 ACCxCCA COVERED NOVEL TSHZ2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080398.6 6 14.174233 KEEP 0 1 31 58 1751 TT 1 1 0 + 6 60 173 1 0 9.5566 128 60 3859 261 ENST00000371497.5 0.044776 1 RTFDC1 51507 __UNKNOWN__ __UNKNOWN__ 20 55045559 55045559 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:55045559C>T ENST00000395881.3 + 1 153 RTFDC1_ENST00000435342.2_Intron|RTFDC1_ENST00000023939.4_Intron|RTFDC1_ENST00000357348.5_Intron|RTFDC1_ENST00000484084.1_Intron NM_001283037.1 NP_001269966.1 Q9BY42 RTF2_HUMAN replication termination factor 2 domain containing 1 NA NA NA gcttacattTCGGATCAatat 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161513 CCDS13453.1, CCDS63316.1, CCDS63317.1 20q13 2012-10-29 2012-10-29 2012-10-29 ENSG00000022277 ENSG00000022277 51507 15890 protein-coding gene gene with protein product NA chromosome 20 open reading frame 43 C20orf43 NA Standard NM_016407 NM_001283035 NA Approved HSPC164, CDAO5 uc002xxt.2 Q9BY42 OTTHUMG00000032801 ENST00000395881.3:c.69+1737C>T chr20.hg19:g.55045559C>T NA E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3 hg19 0.02 1.350754 TTTxGGA COVERED NOVEL RTFDC1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000259433.1 1 11.435874 KEEP 0 0 0 38 1288 CC 1 0.997898 0 + 5 60 152 0 0 9.676223 68 60 2226 155 ENST00000395881.3 0.068493 0.997898 PHACTR3 116154 __UNKNOWN__ __UNKNOWN__ 20 58318099 58318099 __UNKNOWN__ Intron SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:58318099G>C ENST00000371015.1 + 2 585 PHACTR3_ENST00000541461.1_Intron|PHACTR3_ENST00000395636.2_Intron|PHACTR3_ENST00000355648.4_Intron|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000359926.3_Intron|PHACTR3_ENST00000361300.4_Intron NM_001281507.1|NM_080672.3 NP_001268436.1|NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 NA NA nucleus (GO:0005634) protein phosphatase inhibitor activity (GO:0004864) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CATCACCTTGGGCCCCCAGGA 0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ311122 CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1 20q13.32-q13.33 2014-06-13 2004-05-20 2004-05-20 ENSG00000087495 ENSG00000087495 116154 Phosphatase and actin regulators 15833 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 123 608725 chromosome 20 open reading frame 101 C20orf101 NA 15107502 Standard NM_080672 NM_001199505 NA Approved PPP1R123 uc002yau.3 Q96KR7 OTTHUMG00000032869 ENST00000371015.1:c.119-63G>C chr20.hg19:g.58318099G>C NA B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4 hg19 CCDS13480.1 0.02 1.590351 TTGxGCC COVERED NOVEL PHACTR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079923.3 3 4.521971 KEEP 0 3 103 51 1783 GG 1 0.999862 0 + 8 60 273 0 0 19.397277 82 60 2876 203 ENST00000371015.1 0.088889 0.999862 COL9A3 1299 __UNKNOWN__ __UNKNOWN__ 20 61472440 61472440 __UNKNOWN__ 3'UTR SNP C C T rs1048132 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:61472440C>T ENST00000343916.3 + 0 2414 COL9A3_ENST00000462700.1_3'UTR NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 NA NA axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) ATATATTAAACCTTCAGATTA 0.318 NA NA T||| 1217 0.243011 0.348 0.1974 5008 , , NA 18636 0.1607 NA 0.2744 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK075240 CCDS13505.1 20q13.3 2013-01-16 ENSG00000092758 ENSG00000092758 1299 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2219 protein-coding gene gene with protein product collagen type IX proteoglycan 120270 NA 8586434, 1429648 Standard NM_001853 NM_001853 NA Approved IDD, MED, EDM3, FLJ90759, DJ885L7.4.1 uc002ydm.3 Q14050 OTTHUMG00000032938 ENST00000343916.3:c.*356C>T chr20.hg19:g.61472440C>T NA Q13681|Q9H4G9|Q9UPE2 hg19 CCDS13505.1 0.02 -0.333355 AAAxCTT COVERED NOVEL COL9A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080071.2 2 5.417697 KEEP 0 0 0 18 635 CC 0.999859 0.851864 0 + 3 60 96 0 0 6.512347 34 60 1158 74 ENST00000343916.3 0.081081 0.851984 SOX18 54345 __UNKNOWN__ __UNKNOWN__ 20 62679146 62679146 __UNKNOWN__ 3'UTR SNP G G A rs12303 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr20:62679146G>A ENST00000340356.7 - 0 1652 ZNF512B_ENST00000450537.1_Intron NM_018419.2 NP_060889.1 P35713 SOX18_HUMAN SRY (sex determining region Y)-box 18 NA NA angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|cell maturation (GO:0048469)|embryonic heart tube development (GO:0035050)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|establishment of endothelial barrier (GO:0061028)|hair cycle process (GO:0022405)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell proliferation (GO:0072091)|stem cell fate specification (GO:0048866)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570) nuclear chromatin (GO:0000790)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212) lung(3) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) ttttaaaaGGGCAAAGTAAAA 0.323 NA NA G||| 363 0.072484 0.0061 0.1009 5008 , , NA 13930 0.0169 NA 0.17 False NA ,,, NA NA NA 2504 0.0992 NA NA NA GBM(27;64 690 17108 39708) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033888 CCDS13552.1 20q13.33 2008-07-28 ENSG00000203883 ENSG00000203883 54345 SRY (sex determining region Y)-boxes 11194 protein-coding gene gene with protein product 601618 NA 10807548 Standard NM_018419 NA Approved uc002yhs.3 P35713 OTTHUMG00000033017 ENST00000340356.7:c.*373C>T chr20.hg19:g.62679146G>A NA Q0VGA9|Q9NPH8 hg19 CCDS13552.1 0.02 -0.412291 AGGxCAA COVERED NOVEL SOX18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080265.1 3 7.223034 KEEP 0 0 0 24 808 GG 0.999909 0.941656 0 - 4 60 131 0 0 9.109206 42 60 1427 90 ENST00000340356.7 0.086957 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825769 9825769 __UNKNOWN__ IGR SNP C C A rs367745251 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:9825769C>A NA NA CR381670.1 (142497 upstream) : MIR3648 (62 downstream) NA NA NA GTGGGCTTCCCGGAGGGTTCC 0.831 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9825769C>A NA hg19 0.02 8.986298 TCCxGGA COVERED NOVEL 0 9 16.631304 KEEP 0 12 350 179 5907 CC 1 1 0 19 60 550 0 0 33.12363 290 70 9704 806 0.061489 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825802 9825802 __UNKNOWN__ IGR SNP C C A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:9825802C>A NA NA CR381670.1 (142530 upstream) : MIR3648 (29 downstream) NA NA NA gcggcgcgtgcgggggaggag 0.836 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr21.hg19:g.9825802C>A NA hg19 0.02 6.697651 GTGxGGG COVERED NOVEL 0 7 3.770652 KEEP 0 16 421 162 5081 CC 1 1 0 27 70 746 0 0 48.756116 259 70 8248 790 0.094406 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9907202 9907202 __UNKNOWN__ RNA SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:9907202C>T ENST00000416067.1 - 0 1590 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA AGAAAGCTAACGCACTGTTTA 0.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene NA MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9907202C>T NA hg19 0.02 9.691487 TAAxGCA COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 30 20.038528 KEEP 21 19 528 253 8693 CC 1 1 0 - 13 49 371 0 0 18.904245 361 60 12214 933 ENST00000416067.1 0.034759 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9907302 9907302 __UNKNOWN__ RNA SNP C C T rs375423448 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:9907302C>T ENST00000416067.1 - 0 1490 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA ATGGGCCATGCACTTCTGGCG 0.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene NA MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9907302C>T NA hg19 0.02 11.592104 ATGxACT COVERED . . . . . . . . . . . 5.168 0.216479 0.09810 . . ENSG00000188681 ENST00000400754 . . . 0.109 0.109 0.14578 . . . . . T 0.37128 0.0992 . . . . . . . . . . . . T 0.43734 -0.9373 3 . . . . 5.9913 0.19465 0.0:0.9994:0.0:6.0E-4 . . . . Y 107 . . C - 2 0 CR392039.1 . 1.000000 0.71417 0.129000 0.21949 0.131000 0.20780 4.627000 0.61276 0.181000 0.19994 0.184000 0.17185 TGC NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 21 62.487207 KEEP 26 13 372 339 11806 CC 1 1 0 - 13 44 384 0 0 19.752688 388 60 13604 1129 ENST00000416067.1 0.032419 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9909121 9909121 __UNKNOWN__ RNA SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:9909121C>T ENST00000416067.1 - 0 285 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA GCCAGGTTCACGGCGTCACAC 0.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene NA MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9909121C>T NA hg19 0.02 10.097089 TCAxGGC COVERED . . . . . . . . . . . 5.604 0.296211 0.10622 . . ENSG00000227328 ENST00000416067 . . . 0.109 0.109 0.14578 . . . . . T 0.57858 0.2082 . . . . . . D 0.89917 1.0 D 0.85130 0.997 T 0.58601 -0.7608 5 . . . . 2.6667 0.05054 0.0:0.5259:0.0:0.4741 . 72 B7WNX9 . M 72 . . V - 1 0 TEKT4P2 . 0.013000 0.17824 0.037000 0.18230 0.037000 0.13140 1.583000 0.36579 0.181000 0.19994 0.184000 0.17185 GTG NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 2 13.808592 KEEP 0 14 391 184 6239 CC 1 1 0 - 31 60 883 0 0 57.589545 321 60 10861 753 ENST00000416067.1 0.088068 1 TPTE 7179 __UNKNOWN__ __UNKNOWN__ 21 11027055 11027055 __UNKNOWN__ Intron SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11027055A>C ENST00000415664.2 - 2 122 BAGE2_ENST00000470054.1_RNA P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCATACTTTAGGCCTGTCAC 0.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs 12023 protein-coding gene gene with protein product PTEN-related tyrosine phosphatase, cancer/testis antigen 44 604336 NA 10830953, 14659893 Standard NM_001290224 NA Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000415664.2:c.3215-216T>G chr21.hg19:g.11027055A>C NA B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 hg19 0.02 3.551839 TTTxGGC COVERED NOVEL TPTE-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000340030.1 5 4.578256 KEEP 0 2 68 39 1169 AA 1 0.999998 0 - 15 47 482 0 0 35.905509 102 60 3103 223 ENST00000415664.2 0.128205 0.999998 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11038882 11038882 __UNKNOWN__ RNA SNP C C T rs12627085 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11038882C>T ENST00000470054.1 - 0 1321 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCATGTCATGCGAAGGCAAGT 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11038882C>T NA A8K925|Q08ER0 hg19 0.02 2.530185 ATGxGAA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 16 2.544014 KEEP 51 10 273 105 3504 CC 1 1 0 - 10 49 288 0 0 18.013117 128 60 4258 382 ENST00000470054.1 0.072464 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11039033 11039033 __UNKNOWN__ RNA SNP G G A rs28369127 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11039033G>A ENST00000470054.1 - 0 1170 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTCAATTGTAGGAGTCATTTC 0.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11039033G>A NA A8K925|Q08ER0 hg19 0.02 10.453416 GTAxGAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 23 23.958119 KEEP 37 8 261 171 6040 GG 1 1 0 - 26 50 818 0 0 55.672077 278 50 9727 753 ENST00000470054.1 0.085526 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11049584 11049584 __UNKNOWN__ RNA SNP C C T rs9808647 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11049584C>T ENST00000470054.1 - 0 524 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAGGTCTCCCGGGCTGTCGC 0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 67 54 58 NA NA 21 NA 11049584 692 1590 2282 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11049584C>T NA A8K925|Q08ER0 hg19 0.02 6.554036 TCCxGGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 20 16.200889 KEEP 75 10 320 166 5689 CC 1 1 0 - 14 49 441 0 0 28.671868 189 60 6384 651 ENST00000470054.1 0.068966 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11049592 11049592 __UNKNOWN__ RNA SNP C C T rs3906134 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11049592C>T ENST00000470054.1 - 0 516 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCCGGGCTGTCGCACACTGCA 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 72 57 62 NA NA 21 NA 11049592 692 1591 2283 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11049592C>T NA A8K925|Q08ER0 hg19 0.02 6.329609 TGTxGCA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 21 19.205493 KEEP 70 10 299 169 5739 CC 1 1 0 - 15 60 449 0 0 28.745925 191 60 6374 688 ENST00000470054.1 0.072816 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058248 11058248 __UNKNOWN__ RNA SNP G G A rs8130203 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11058248G>A ENST00000470054.1 - 0 399 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 80 67 71 NA NA 21 NA 11058248 692 1591 2283 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058248G>A NA A8K925|Q08ER0 hg19 0.02 6.407587 AAGxATA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 14 19.640638 KEEP 62 8 238 149 5177 GG 1 1 0 - 15 50 462 0 0 29.536638 207 60 7060 605 ENST00000470054.1 0.067568 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11059849 11059849 __UNKNOWN__ RNA SNP G G T rs11183999 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11059849G>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gccggacgtggtggcaggcac 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11059849G>T NA A8K925|Q08ER0 hg19 0.02 7.720202 GTGxTGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 46 15.787523 KEEP 1 4 115 93 3194 GG 1 1 0 - 12 60 336 2 0 20.251753 172 60 5877 497 ENST00000470054.1 0.065217 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11059861 11059861 __UNKNOWN__ RNA SNP T T G rs2775351 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11059861T>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ggcaggcacctgtagtcccag 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11059861T>G NA A8K925|Q08ER0 hg19 0.02 9.326574 ACCxGTA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 58 16.684456 KEEP 2 4 133 102 3189 TT 1 1 0 - 9 60 311 0 0 19.175767 206 60 6332 592 ENST00000470054.1 0.04186 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11059897 11059897 __UNKNOWN__ RNA SNP A A G rs6582758 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11059897A>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aagcaggagaaGCTTCTAAAT 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11059897A>G NA A8K925|Q08ER0 hg19 0.02 12.544646 AGAxGCT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 68 3.091201 KEEP 2 8 280 108 3413 AA 1 1 0 - 22 60 755 0 0 53.914913 222 60 6892 686 ENST00000470054.1 0.090164 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11098728 11098728 __UNKNOWN__ RNA SNP C C T rs113315187 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:11098728C>T ENST00000470054.1 - 0 197 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cttactgctccggccgccatc 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 104 154 137 NA NA 21 NA 11098728 2127 4256 6383 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11098728C>T NA A8K925|Q08ER0 hg19 0.02 6.184245 CTCxGGC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 31 5.658744 KEEP 0 7 214 94 3159 CC 1 1 0 - 15 60 448 0 0 29.901889 156 60 5290 437 ENST00000470054.1 0.087719 1 NRIP1 8204 __UNKNOWN__ __UNKNOWN__ 21 16334963 16334963 __UNKNOWN__ 3'UTR SNP T T G rs2822988 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:16334963T>G ENST00000400202.1 - 0 6263 NRIP1_ENST00000318948.4_3'UTR|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_3'UTR P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 NA NA androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) AAGATTGTCATAGTATGGACA 0.348 NA NA T||| 1610 0.321486 0.3737 0.3804 5008 , , NA 17917 0.3125 NA 0.3151 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X84373 CCDS13568.1 21q11.2 2008-07-31 ENSG00000180530 ENSG00000180530 8204 8001 protein-coding gene gene with protein product receptor interacting protein 140, nuclear factor RIP140 602490 NA 7641693, 9521594 Standard NM_003489 NM_003489 NA Approved RIP140 uc002yjx.2 P48552 OTTHUMG00000074323 ENST00000400202.1:c.*2074A>C chr21.hg19:g.16334963T>G NA Q8IWE8 hg19 CCDS13568.1 0.02 1.856872 TCAxAGT COVERED NOVEL NRIP1-002 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157926.1 6 10.22763 KEEP 0 0 0 34 998 TT 0.999998 0.997551 0 - 6 60 210 0 0 14.935498 65 60 1877 140 ENST00000400202.1 0.084507 0.997553 NRIP1 8204 __UNKNOWN__ __UNKNOWN__ 21 16336804 16336804 __UNKNOWN__ 3'UTR SNP T T C rs1056930 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:16336804T>C ENST00000400202.1 - 0 4422 NRIP1_ENST00000318948.4_3'UTR|NRIP1_ENST00000400199.1_3'UTR P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 NA NA androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TGTTATCTGATGCATACAGAA 0.294 NA NA T||| 3868 0.772364 0.9622 0.7032 5008 , , NA 16126 0.9266 NA 0.6183 False NA ,,, NA NA NA 2504 0.5644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X84373 CCDS13568.1 21q11.2 2008-07-31 ENSG00000180530 ENSG00000180530 8204 8001 protein-coding gene gene with protein product receptor interacting protein 140, nuclear factor RIP140 602490 NA 7641693, 9521594 Standard NM_003489 NM_003489 NA Approved RIP140 uc002yjx.2 P48552 OTTHUMG00000074323 ENST00000400202.1:c.*233A>G chr21.hg19:g.16336804T>C NA Q8IWE8 hg19 CCDS13568.1 0.02 -0.420958 TGAxGCA COVERED NOVEL NRIP1-002 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157926.1 2 5.115243 KEEP 0 0 0 17 526 TT 0.999366 0.947801 0 - 6 60 194 0 0 14.411946 42 60 1240 88 ENST00000400202.1 0.125 0.948402 CXADR 1525 __UNKNOWN__ __UNKNOWN__ 21 18941263 18941263 __UNKNOWN__ Intron SNP A A G rs2824365 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:18941263A>G ENST00000400169.1 + 7 1017 CXADR_ENST00000284878.7_3'UTR NM_001207066.1 NP_001193995.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor NA NA actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032) acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618) endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) CCAAATCACTATCCATATAGA 0.308 NA NA A||| 1117 0.223043 0.2428 0.2061 5008 , , NA 16281 0.2202 NA 0.2097 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y07593 CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1 21q21.1 2013-01-29 ENSG00000154639 ENSG00000154639 1525 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 2559 protein-coding gene gene with protein product 602621 NA 9036860, 9096397 Standard NM_001338 NA Approved CAR uc002yki.3 P78310 OTTHUMG00000074508 ENST00000400169.1:c.1017+3334A>G chr21.hg19:g.18941263A>G NA B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4 hg19 CCDS56204.1 0.02 1.935826 ACTxTCC COVERED NOVEL CXADR-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000158210.1 0 7.251552 KEEP 0 1 31 35 1019 AA 0.999999 0.992093 0 + 4 60 140 0 0 9.470861 58 60 1657 130 ENST00000400169.1 0.064516 0.992094 MAP3K7CL 56911 __UNKNOWN__ __UNKNOWN__ 21 30547683 30547683 __UNKNOWN__ 3'UTR SNP G G C rs2832237 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:30547683G>C ENST00000399935.2 + 0 1566 MAP3K7CL_ENST00000339024.4_3'UTR|MAP3K7CL_ENST00000545939.1_3'UTR|MAP3K7CL_ENST00000399928.1_3'UTR|MAP3K7CL_ENST00000399934.1_3'UTR|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000341618.4_3'UTR|MAP3K7CL_ENST00000399947.2_3'UTR P57077 M3KCL_HUMAN MAP3K7 C-terminal like NA NA cytosol (GO:0005829)|nucleus (GO:0005634) NA AGAAACTTCTGTGCATGTATT 0.274 NA NA C||| 2749 0.548922 0.4024 0.5562 5008 , , NA 18329 0.4921 NA 0.7276 False NA ,,, NA NA NA 2504 0.6166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF269161 CCDS13584.1, CCDS68182.1, CCDS74775.1 21q22.3 2013-02-22 2013-02-22 2013-02-22 ENSG00000156265 ENSG00000156265 56911 16457 protein-coding gene gene with protein product 611110 chromosome 21 open reading frame 7 C21orf7 NA Standard NM_020152 NM_020152 NA Approved TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4 uc002ynf.3 P57077 OTTHUMG00000078806 ENST00000399935.2:c.*470G>C chr21.hg19:g.30547683G>C NA D3DSE0|Q8TCL9 hg19 0.02 -0.298275 TCTxTGC COVERED NOVEL MAP3K7CL-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000171867.2 1 6.922165 KEEP 0 0 0 23 801 GG 0.999892 0.780976 0 + 3 60 105 0 0 7.525852 31 60 1068 75 ENST00000399935.2 0.088235 0.78106 GART 2618 __UNKNOWN__ __UNKNOWN__ 21 34896748 34896748 __UNKNOWN__ Intron SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:34896748T>C ENST00000381831.3 - 11 1562 GART_ENST00000381815.4_Intron|GART_ENST00000361093.5_3'UTR|GART_ENST00000381839.3_Intron NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase NA NA 'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) gtcccagctatttgggaggct 0.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M32082 CCDS13627.1, CCDS13628.1 21q22.11 2012-10-02 ENSG00000159131 ENSG00000159131 2618 2.1.2.2, 6.3.3.1, 6.3.4.13 4163 protein-coding gene gene with protein product 138440 PRGS, PGFT NA 2050105 Standard NM_000819 NM_001136005 NA Approved uc002yrx.3 P22102 OTTHUMG00000065628 ENST00000381831.3:c.1298+327A>G chr21.hg19:g.34896748T>C NA A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77 hg19 CCDS13627.1 0.02 3.936145 CTAxTTG COVERED NOVEL GART-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000140626.3 25 3.245878 KEEP 0 4 123 54 1693 TT 1 1 0 - 5 60 185 1 0 11.862936 115 60 3466 286 ENST00000381831.3 0.041667 1 DYRK1A 1859 __UNKNOWN__ __UNKNOWN__ 21 38858938 38858938 __UNKNOWN__ Intron SNP G G A rs55650427 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:38858938G>A ENST00000398960.2 + 5 739 DYRK1A_ENST00000339659.4_Intron|DYRK1A_ENST00000338785.3_Intron|DYRK1A_ENST00000321219.8_Intron|DYRK1A_ENST00000451934.1_Intron|DYRK1A_ENST00000398956.2_Intron NM_001396.3|NM_130438.2 NP_001387.2|NP_569122.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A NA NA circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468) nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156) breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GGCAAACAGCGCAGTGTGCCC 0.338 NA NA G||| 958 0.191294 0.0113 0.1974 5008 , , NA 16004 0.2054 NA 0.2326 False NA ,,, NA NA NA 2504 0.3732 NA NA NA Melanoma(114;464 1602 31203 43785 45765) NA 0 G ,,, 220,4186 124.5+/-161.8 3,214,1986 34 33 33 ,,, -2.3 0 21 dbSNP_129 33 2036,6558 337.8+/-322.5 269,1498,2530 no intron,intron,intron,intron DYRK1A NM_001396.3,NM_101395.2,NM_130436.2,NM_130438.2 ,,, 272,1712,4516 AA,AG,GG 23.6909,4.9932,17.3538 ,,, ,,, 38858938 2256,10744 2203 4297 6500 SO:0001627 intron_variant U52373 CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1 21q22.13 2010-04-21 ENSG00000157540 ENSG00000157540 1859 3091 protein-coding gene gene with protein product 600855 DYRK1, DYRK, MNBH NA 9284911 Standard NM_001396 NM_130436 NA Approved uc002ywk.3 Q13627 OTTHUMG00000086657 ENST00000398960.2:c.664+22G>A chr21.hg19:g.38858938G>A NA O60769|Q92582|Q92810|Q9UNM5 hg19 CCDS42925.1 0.02 1.267634 AGCxCAG COVERED NOVEL DYRK1A-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194804.1 2 7.524465 KEEP 0 0 0 25 877 GG 0.999931 0.987875 0 + 5 60 135 0 0 8.428589 55 60 1863 120 ENST00000398960.2 0.083333 0.987943 DYRK1A 1859 __UNKNOWN__ __UNKNOWN__ 21 38885442 38885442 __UNKNOWN__ 3'UTR SNP A A G rs1803439 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:38885442A>G ENST00000339659.4 + 0 4343 DYRK1A_ENST00000338785.3_3'UTR NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A NA NA circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468) nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156) breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TGTCAGGCACAGTAAGCATGC 0.512 NA NA A||| 1827 0.364816 0.2965 0.3718 5008 , , NA 13464 0.3819 NA 0.335 False NA ,,, NA NA NA 2504 0.4652 NA NA NA Melanoma(114;464 1602 31203 43785 45765) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U52373 CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1 21q22.13 2010-04-21 ENSG00000157540 ENSG00000157540 1859 3091 protein-coding gene gene with protein product 600855 DYRK1, DYRK, MNBH NA 9284911 Standard NM_001396 NM_130436 NA Approved uc002ywk.3 Q13627 OTTHUMG00000086657 ENST00000339659.4:c.*608A>G chr21.hg19:g.38885442A>G NA O60769|Q92582|Q92810|Q9UNM5 hg19 CCDS13653.1 0.02 -0.315745 CACxGTA COVERED NOVEL DYRK1A-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000194801.2 0 6.617814 KEEP 0 0 0 22 659 AA 0.999879 0.818365 0 + 3 60 106 0 0 7.548347 33 60 997 84 ENST00000339659.4 0.083333 0.818465 C21orf88 114041 __UNKNOWN__ __UNKNOWN__ 21 40977586 40977586 __UNKNOWN__ Intron SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:40977586G>T ENST00000380612.4 - 2 228 C21orf88_ENST00000380604.3_3'UTR|C21orf88_ENST00000329618.6_3'UTR|B3GALT5_ENST00000380620.4_Intron chromosome 21 open reading frame 88 NA NA endometrium(1)|large_intestine(1) 2 caggctggagggcagtggcat 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF426266 21q22.2 2013-01-15 ENSG00000184809 ENSG00000184809 114041 16424 other unknown NA NA 12036297 Standard NR_026542 NR_026542 NA Approved uc010gok.4 P59052 OTTHUMG00000086722 ENST00000380612.4:c.152+3923C>A chr21.hg19:g.40977586G>T NA hg19 0.02 1.392517 GAGxGCA COVERED NOVEL C21orf88-001 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000194999.1 3 4.213387 KEEP 0 0 0 14 468 GG 0.995343 0.977383 0 - 5 60 132 0 0 8.370431 49 60 1661 90 ENST00000380612.4 0.092593 0.981955 UBASH3A 53347 __UNKNOWN__ __UNKNOWN__ 21 43863521 43863521 __UNKNOWN__ Silent SNP A A G rs386818914|rs868092 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:43863521A>G ENST00000291535.6 + 12 1664 c.1617A>G c.(1615-1617)ccA>ccG p.P539P UBASH3A_ENST00000319294.6_Silent_p.P577P|UBASH3A_ENST00000398367.1_Intron NM_001001895.2 NP_001001895.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 577 Phosphatase-like. NA negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817) cytosol (GO:0005829)|nucleus (GO:0005634) catalytic activity (GO:0003824) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ACACCTGTCCACAGGACAGTA 0.552 NA NA G||| 3089 0.616813 0.59 0.6556 5008 , , NA 19473 0.5169 NA 0.6879 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 G , 2768,1638 484.6+/-360.1 858,1052,293 65 47 53 1617,1731 -3.9 0 21 dbSNP_86 53 6298,2302 371.3+/-336.2 2315,1668,317 no coding-synonymous,coding-synonymous UBASH3A NM_001001895.2,NM_018961.3 , 3173,2720,610 GG,GA,AA 26.7674,37.1766,30.2937 , 539/624,577/662 43863521 9066,3940 2203 4300 6503 SO:0001819 synonymous_variant AJ277750 CCDS13687.1, CCDS33566.1, CCDS58791.1 21q22.3 2010-04-28 2010-04-28 ENSG00000160185 ENSG00000160185 53347 12462 protein-coding gene gene with protein product 605736 NA 11281453 Standard NM_001001895 NM_018961 NA Approved STS-2, TULA, CLIP4 uc002zbf.3 P57075 OTTHUMG00000086805 ENST00000291535.6:c.1617A>G chr21.hg19:g.43863521A>G NA G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9 hg19 CCDS33566.1 0.02 1.983017 TCCxCAG COVERED NOVEL UBASH3A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195383.1 4 13.535959 KEEP 0 0 0 45 1293 AA 1 0.996233 0 + 5 60 180 0 0 12.598929 64 60 1797 148 ENST00000291535.6 0.072464 0.996233 RSPH1 89765 __UNKNOWN__ __UNKNOWN__ 21 43892837 43892837 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:43892837T>C ENST00000291536.3 - 0 1188 RSPH1_ENST00000398352.3_3'UTR NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) NA NA axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126) cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634) large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 cctcagcctctcaagtagctg 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(23;63 706 6286 10288 12913) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB006536 CCDS13688.1, CCDS68210.1 21q22.3 2014-02-03 2007-06-25 2007-06-25 ENSG00000160188 ENSG00000160188 89765 12371 protein-coding gene gene with protein product meichroacidin 609314 testis specific A2 homolog (mouse) TSGA2 NA 9403069, 9578619, 17451891 Standard XM_005261208 NA Approved FLJ32753, RSP44, RSPH10A, CILD24 uc002zbg.3 Q8WYR4 OTTHUMG00000086804 ENST00000291536.3:c.*91A>G chr21.hg19:g.43892837T>C NA A8MWV0|B2RBN9|Q3MJA1 hg19 CCDS13688.1 0.02 5.836541 CTCxCAA COVERED NOVEL RSPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195379.1 64 13.03079 KEEP 1 6 211 117 3690 TT 1 1 0 - 7 60 242 0 2 14.612903 178 60 5572 463 ENST00000291536.3 0.037838 1 PDXK 8566 __UNKNOWN__ __UNKNOWN__ 21 45177255 45177255 __UNKNOWN__ 3'UTR SNP C C A rs3746954 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:45177255C>A ENST00000291565.4 + 0 2433 PDXK_ENST00000468090.1_3'UTR|PDXK_ENST00000467908.1_3'UTR NM_003681.4 NP_003672.1 O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase NA NA cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270) endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) TCCAGGGAACCCACGGCTGGA 0.647 NA NA C||| 1191 0.237819 0.0287 0.281 5008 , , NA 12879 0.4692 NA 0.1988 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U89606 CCDS13699.1 21q22.3 2007-05-10 ENSG00000160209 ENSG00000160209 8566 2.7.1.35 8819 protein-coding gene gene with protein product 179020 chromosome 21 open reading frame 97, chromosome 21 open reading frame 124 C21orf97, C21orf124 NA 9099727 Standard NM_003681 NM_003681 NA Approved PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873 uc002zdm.4 O00764 OTTHUMG00000086870 ENST00000291565.4:c.*1311C>A chr21.hg19:g.45177255C>A NA Q7Z2Y0|Q9BS02 hg19 CCDS13699.1 0.02 2.699014 AACxCAC COVERED NOVEL PDXK-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195636.1 3 22.871114 KEEP 0 0 0 76 2610 CC 1 1 0 + 6 60 181 0 0 10.319266 129 60 4452 292 ENST00000291565.4 0.044444 1 POFUT2 23275 __UNKNOWN__ __UNKNOWN__ 21 46684730 46684730 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:46684730G>A ENST00000349485.5 - 0 1983 POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_3'UTR NM_133635.4 NP_598368.2 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 NA NA fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794) peptide-O-fucosyltransferase activity (GO:0046922) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) CCCCAGAGACGTCACTGAAAA 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ203079 CCDS13719.1, CCDS13721.1 21q22.3 2013-03-06 2004-06-07 2004-06-09 ENSG00000186866 ENSG00000186866 23275 2.4.1.221 Fucosyltransferases 14683 protein-coding gene gene with protein product peptide-O-fucosyltransferase, GDP-fucose protein O-fucosyltransferase 2 610249 chromosome 21 open reading frame 80 C21orf80 NA Standard NM_015227 NM_133635 NA Approved KIAA0958, FUT13 uc002zhc.3 Q9Y2G5 OTTHUMG00000084874 ENST00000349485.5:c.*667C>T chr21.hg19:g.46684730G>A NA Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3 hg19 CCDS13719.1 0.02 3.830114 GACxTCA COVERED NOVEL POFUT2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000192573.2 9 29.529258 KEEP 0 1 31 109 3731 GG 1 1 0 - 8 60 235 0 0 13.033314 177 60 5874 435 ENST00000349485.5 0.043243 1 S100B 6285 __UNKNOWN__ __UNKNOWN__ 21 48020193 48020193 __UNKNOWN__ Splice_Site SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr21:48020193A>G ENST00000367071.4 - 3 429 c.e3+1 S100B_ENST00000397648.1_Intron|S100B_ENST00000291700.4_Intron P04271 S100B_HUMAN S100 calcium binding protein B NA NA astrocyte differentiation (GO:0048708)|axonogenesis (GO:0007409)|cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|regulation of neuronal synaptic plasticity (GO:0048168)|response to glucocorticoid (GO:0051384)|response to methylmercury (GO:0051597) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|S100 protein binding (GO:0044548)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 Breast(49;0.247) Lung NSC(3;0.245) OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241) Olopatadine(DB00768) ggtggctcacacctgtaatcc 0.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001630 splice_region_variant M59488 CCDS13736.1 21q22.3 2013-01-10 2006-09-11 ENSG00000160307 ENSG00000160307 6285 S100 calcium binding proteins, EF-hand domain containing 10500 protein-coding gene gene with protein product 176990 S100 calcium binding protein, beta (neural) NA 2394738, 1998503 Standard NM_006272 NM_006272 NA Approved S100beta uc002zju.1 P04271 OTTHUMG00000090715 ENST00000367071.4:c.232+1T>C chr21.hg19:g.48020193A>G NA D3DSN6 hg19 0.02 3.815972 CACxCCT COVERED NOVEL S100B-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000207428.1 29 9.095124 KEEP 2 2 71 55 1673 AA 1 0.999999 0 Intron - 7 60 230 0 0 14.816549 111 60 3216 242 ENST00000367071.4 0.059322 0.999999 CLTCL1 8218 __UNKNOWN__ __UNKNOWN__ 22 19241531 19241531 __UNKNOWN__ Missense_Mutation SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:19241531C>T ENST00000263200.10 - 3 542 c.470G>A c.(469-471)cGg>cAg p.R157Q CLTCL1_ENST00000353891.5_Missense_Mutation_p.R157Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R157Q NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 157 Globular terminal domain.|WD40-like repeat 4. NA anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165) clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802) signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CTCATCAGTCCGGTAGTGAAT 0.547 NA NA T ? ALCL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Dom yes 22 22q11.21 8218 clathrin, heavy polypeptide-like 1 L 0 39 39 39 NA NA 22 NA 19241531 1994 4165 6159 SO:0001583 missense CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2 22q11.2 2008-06-10 2006-09-29 ENSG00000070371 ENSG00000070371 8218 2093 protein-coding gene gene with protein product 601273 clathrin, heavy polypeptide-like 1 CLTCL NA 8844170, 15133132 Standard NM_007098 NM_007098 NA Approved CLTD, CLH22, CHC22 uc021wle.1 P53675 OTTHUMG00000150109 ENST00000263200.10:c.470G>A chr22.hg19:g.19241531C>T ENSP00000445677:p.Arg157Gln NA B7Z7U5|Q14017|Q15808|Q15809 hg19 CCDS46662.1 0.02 -0.368422 GTCxGGT COVERED . . . . . . . . . . C 12.19 1.864306 0.32977 . . ENSG00000070371 ENST00000353891;ENST00000263200;ENST00000427926 T;T;T 0.49139 0.79;0.79;0.79 4.3 1.04 0.20106 Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1); 0.072847 0.52532 N 0.000074 T 0.48554 0.1506 M 0.77103 2.36 0.47778 D 0.999516 P;B 0.43519 0.809;0.048 B;B 0.43701 0.428;0.07 T 0.44314 -0.9336 10 0.37606 T 0.19 -17.5141 9.4407 0.38666 0.0:0.7642:0.0:0.2358 . 157;157 P53675-2;P53675 .;CLH2_HUMAN Q 157 ENSP00000439662:R157Q;ENSP00000445677:R157Q;ENSP00000441158:R157Q ENSP00000445677:R157Q R - 2 0 CLTCL1 17621531 1.000000 0.71417 0.236000 0.24074 0.014000 0.08584 3.348000 0.52209 0.116000 0.18110 -0.253000 0.11424 CGG NOVEL CLTCL1-001 KNOWN non_canonical_genome_sequence_error|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316397.5 0 5.41657 KEEP 0 0 0 18 585 CC 0.999859 0.899187 0 - 4 60 120 0 0 8.176634 38 60 1263 84 ENST00000263200.10 0.095238 0.899314 MED15 51586 __UNKNOWN__ __UNKNOWN__ 22 20905257 20905257 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:20905257G>A ENST00000292733.7 + 3 233 MED15_ENST00000382974.2_Intron|MED15_ENST00000263205.7_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000542773.1_Intron NM_015889.3 NP_056973.2 Q96RN5 MED15_HUMAN mediator complex subunit 15 NA NA gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) RNA polymerase II transcription cofactor activity (GO:0001104) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CAGATACTGCGTCATCAGTGA 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF056191 CCDS13781.1, CCDS33602.1, CCDS74824.1 22q11.2 2007-07-30 2007-07-30 2007-07-30 ENSG00000099917 ENSG00000099917 51586 14248 protein-coding gene gene with protein product 607372 trinucleotide repeat containing 7, PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein TNRC7, PCQAP NA 11024300, 11414760, 15175163 Standard NM_015889 XM_005261632 NA Approved TIG-1, CAG7A, Arc105 uc002zsp.3 Q96RN5 OTTHUMG00000150810 ENST00000292733.7:c.157-466G>A chr22.hg19:g.20905257G>A NA D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3 hg19 CCDS13781.1 0.02 0.986495 TGCxTCA COVERED NOVEL MED15-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320174.2 3 15.882891 KEEP 0 1 23 61 2049 GG 1 0.999881 0 + 5 60 144 0 0 8.364766 87 60 2921 225 ENST00000292733.7 0.054348 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 22868013 22868013 __UNKNOWN__ IGR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:22868013T>C NA NA ZNF280B (4508 upstream) : ZNF280A (46 downstream) NA NA NA gcatgagccatcacgcccagc 0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA NA chr22.hg19:g.22868013T>C NA hg19 0.02 -0.359609 CCAxCAC COVERED NOVEL 0 8 5.713428 KEEP 0 0 0 19 569 TT 0.99986 0.899188 0 3 60 107 1 0 7.57488 35 60 1062 83 0.078947 0.899314 SLC2A11 66035 __UNKNOWN__ __UNKNOWN__ 22 24227620 24227620 __UNKNOWN__ 3'UTR SNP G G C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:24227620G>C ENST00000345044.6 + 0 2343 SLC2A11_ENST00000398356.2_3'UTR|AP000350.10_ENST00000433835.3_Intron Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 NA NA carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 tgaggtggctgatgcctgtaa 0.438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ271290 CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1 22q11.23 2013-05-22 ENSG00000133460 ENSG00000133460 66035 Solute carriers 14239 protein-coding gene gene with protein product 610367 NA Standard NM_030807 NM_001024938 NA Approved GLUT11, GLUT10 uc002zyp.4 Q9BYW1 OTTHUMG00000166469 ENST00000345044.6:c.*584G>C chr22.hg19:g.24227620G>C NA E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4 hg19 CCDS46673.1 0.02 5.774088 GCTxATG COVERED NOVEL SLC2A11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319889.3 42 16.56255 KEEP 0 3 112 94 3250 GG 1 1 0 + 6 60 211 0 1 12.924305 150 60 5161 376 ENST00000345044.6 0.038462 1 RFPL1 5988 __UNKNOWN__ __UNKNOWN__ 22 29837847 29837847 __UNKNOWN__ Silent SNP G G C rs61734564 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:29837847G>C ENST00000354373.2 + 2 899 c.690G>C c.(688-690)acG>acC p.T230T RFPL1S_ENST00000461286.3_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 230 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. NA zinc ion binding (GO:0008270) endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CTGCCAGCACGGTGCCGCTGA 0.527 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 120 106 111 NA NA 22 NA 29837847 2203 4300 6503 SO:0001819 synonymous_variant AJ010228 CCDS13857.2 22q12 2006-04-25 ENSG00000128250 ENSG00000128250 5988 RING-type (C3HC4) zinc fingers 9977 protein-coding gene gene with protein product 605968 NA 10508838 Standard NM_021026 NM_021026 NA Approved RNF78 uc003afn.3 O75677 OTTHUMG00000150516 ENST00000354373.2:c.690G>C chr22.hg19:g.29837847G>C NA Q6IC06|Q9UJ97 hg19 CCDS13857.2 0.02 5.338028 CACxGTG COVERED NOVEL RFPL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318719.1 10 25.586132 KEEP 3 3 100 120 4058 GG 1 1 0 + 8 47 268 0 0 16.149808 186 60 6464 467 ENST00000354373.2 0.041237 1 NF2 4771 __UNKNOWN__ __UNKNOWN__ 22 30079213 30079213 __UNKNOWN__ Intron SNP T T C rs7291645 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:30079213T>C ENST00000338641.4 + 15 2178 NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000397789.3_Intron|NF2_ENST00000361166.4_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000403435.1_Intron|NF2_ENST00000403999.3_3'UTR|NF2_ENST00000361676.4_Intron NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) NA NA actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010) adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726) p.?(3) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 AGTCTAAAAGTAGGCACCCAC 0.607 NA NA D, Mis, N, F, S, O meningioma, acoustic neuroma, renal meningioma, acoustic neuroma Neurofibromatosis, type 2 C||| 1376 0.27476 0.236 0.255 5008 , , NA 18008 0.3323 NA 0.3777 False NA ,,, NA NA NA 2504 0.1759 NA NA NA yes Rec yes Neurofibromatosis type 2 22 22q12.2 4771 neurofibromatosis type 2 gene O 3 Unknown(3) large_intestine(1)|stomach(1)|central_nervous_system(1) NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis L11353 CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1 22q12.2 2014-09-17 2007-12-17 ENSG00000186575 ENSG00000186575 4771 A-kinase anchor proteins 7773 protein-coding gene gene with protein product moesin-ezrin-radixin like, schwannomin 607379 neurofibromin 2 (bilateral acoustic neuroma) NA 10591208 Standard NM_000268 NM_000268 NA Approved merlin uc003age.4 P35240 OTTHUMG00000030727 ENST00000338641.4:c.1737+1623T>C chr22.hg19:g.30079213T>C NA O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4 hg19 CCDS13861.1 0.02 3.713419 AAGxAGG COVERED NOVEL NF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075615.3 1 18.33556 KEEP 0 0 0 61 1662 TT 1 0.999993 0 + 5 60 169 0 0 10.459704 105 60 2884 229 ENST00000338641.4 0.045455 0.999993 PRR14L 253143 __UNKNOWN__ __UNKNOWN__ 22 32080955 32080955 __UNKNOWN__ 3'UTR SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:32080955A>C ENST00000327423.6 - 0 7203 PRR14L_ENST00000397493.2_Intron|PRR14L_ENST00000434485.1_3'UTR NM_173566.2 NP_775837.2 Q5THK1 PR14L_HUMAN proline rich 14-like NA NA endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 CACACACACAAACACTCTCAC 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC040859 CCDS13900.2 22q12.2 2011-01-25 2011-01-25 2011-01-25 ENSG00000183530 ENSG00000183530 253143 28738 protein-coding gene gene with protein product NA chromosome 22 open reading frame 30 C22orf30 NA 12477932 Standard NM_173566 NM_173566 NA Approved MGC50372 uc003alp.4 Q5THK1 OTTHUMG00000030139 ENST00000327423.6:c.*558T>G chr22.hg19:g.32080955A>C NA Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4 hg19 CCDS13900.2 0.02 1.725222 ACAxACA COVERED NOVEL PRR14L-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074993.2 20 7.287813 KEEP 0 2 71 49 1449 AA 1 0.999726 0 - 7 60 242 1 0 17.315703 71 60 2131 193 ENST00000327423.6 0.089744 0.999726 C22orf42 150297 __UNKNOWN__ __UNKNOWN__ 22 32545502 32545502 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:32545502T>C ENST00000382097.3 - 0 853 C22orf42_ENST00000490640.1_5'UTR NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 atggcaggcgtctgtaatccc 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 52 48 49 NA NA 22 NA 32545502 1327 2309 3636 SO:0001624 3_prime_UTR_variant BC040263 CCDS33639.1 22q12.3 2009-03-05 ENSG00000205856 ENSG00000205856 150297 27160 protein-coding gene gene with protein product NA NA 12477932 Standard NM_001010859 XM_005261369 NA Approved uc003amd.3 Q6IC83 OTTHUMG00000030380 ENST00000382097.3:c.*25A>G chr22.hg19:g.32545502T>C NA A4QPH5 hg19 CCDS33639.1 0.02 1.751506 GCGxCTG COVERED NOVEL C22orf42-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075268.2 19 12.666778 KEEP 1 1 31 53 1624 TT 1 0.999559 0 - 5 60 166 0 0 10.89933 74 60 2267 195 ENST00000382097.3 0.063291 0.999559 TMPRSS6 164656 __UNKNOWN__ __UNKNOWN__ 22 37491545 37491545 __UNKNOWN__ Intron SNP T T C rs386821169|rs2743824 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:37491545T>C ENST00000406725.1 - 6 703 TMPRSS6_ENST00000381792.2_Intron|TMPRSS6_ENST00000442782.2_Intron|TMPRSS6_ENST00000346753.3_Intron|TMPRSS6_ENST00000406856.1_Intron Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 NA NA angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) serine-type endopeptidase activity (GO:0004252) breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TCAAGACAAATGCCAACTCAA 0.488 NA NA C||| 2068 0.412939 0.4622 0.3429 5008 , , NA 17619 0.3998 NA 0.4533 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 C 2099,2307 601.9+/-389.8 504,1091,608 90 92 91 0.3 0 22 dbSNP_100 91 3533,5067 630.9+/-398.4 747,2039,1514 no intron TMPRSS6 NM_153609.2 1251,3130,2122 CC,CT,TT 41.0814,47.6396,43.3031 37491545 5632,7374 2203 4300 6503 SO:0001627 intron_variant AY055383 CCDS13941.1, CCDS74856.1, CCDS74857.1 22q13.1 2010-04-13 ENSG00000187045 ENSG00000187045 164656 Serine peptidases / Transmembrane 16517 protein-coding gene gene with protein product 609862 NA Standard NM_153609 NM_001289000 NA Approved FLJ30744 uc003aqs.1 Q8IU80 OTTHUMG00000150541 ENST00000406725.1:c.631+45A>G chr22.hg19:g.37491545T>C NA B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8 hg19 0.02 1.578709 AAAxGCC COVERED NOVEL TMPRSS6-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318820.1 21 18.352549 KEEP 0 0 0 61 1820 TT 1 0.999317 0 - 4 60 133 0 0 8.295166 77 60 2247 197 ENST00000406725.1 0.049383 0.999317 SH3BP1 23616 __UNKNOWN__ __UNKNOWN__ 22 38051437 38051437 __UNKNOWN__ Missense_Mutation SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:38051437A>C ENST00000357436.4 + 18 2165 c.1852A>C c.(1852-1854)Aca>Cca p.T618P SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA NM_018957.3 NP_061830.3 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 618 NA signal transduction (GO:0007165) cytoplasm (GO:0005737) GTPase activator activity (GO:0005096) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) CCGAGCCCCCACAGTGCCACC 0.751 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 2 2 2 NA NA 22 NA 38051437 1325 2931 4256 SO:0001583 missense CCDS13952.2 22q13.1 2011-07-04 ENSG00000100092 ENSG00000100092 23616 Rho GTPase activating proteins 10824 protein-coding gene gene with protein product NA NA 10591208, 12029088 Standard NM_018957 NM_018957 NA Approved ARHGAP43 uc003ati.3 Q9Y3L3 OTTHUMG00000030996 ENST00000357436.4:c.1852A>C chr22.hg19:g.38051437A>C ENSP00000350018:p.Thr618Pro NA Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9 hg19 CCDS13952.2 0.02 -0.131452 CCCxCAG COVERED . . . . . . . . . . A 10.90 1.481824 0.26598 . . ENSG00000100092 ENST00000357436 T 0.16457 2.34 3.96 0.141 0.14811 . 0.351440 0.20219 U 0.096724 T 0.08044 0.0201 L 0.27053 0.805 0.80722 D 1 B 0.14805 0.011 B 0.15870 0.014 T 0.29610 -1.0006 9 . . . . 1.0602 0.01599 0.3051:0.1356:0.1088:0.4505 . 618 Q9Y3L3 3BP1_HUMAN P 618 ENSP00000350018:T618P . T + 1 0 SH3BP1 36381383 0.653000 0.27358 0.975000 0.42487 0.629000 0.37895 0.286000 0.18902 0.107000 0.17824 0.368000 0.22195 ACA NOVEL SH3BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075884.4 0 3.58688 KEEP 0 0 0 12 306 AA 0.993634 0.227714 0 + 3 60 80 0 0 6.502029 9 60 237 32 ENST00000357436.4 0.25 0.229173 APOBEC3D 140564 __UNKNOWN__ __UNKNOWN__ 22 39428896 39428896 __UNKNOWN__ 3'UTR SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:39428896G>A ENST00000216099.8 + 0 2143 NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D NA NA defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) ctgggattacgggcgtgagcc 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BF832090 CCDS46709.1 22q13.1 2012-10-19 2008-05-01 ENSG00000243811 ENSG00000243811 140564 Apolipoprotein B mRNA editing enzymes 17354 protein-coding gene gene with protein product 609900 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative), apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene APOBEC3E NA 11863358 Standard NM_152426 NM_152426 NA Approved ARP6, APOBEC3DE uc003awt.4 Q96AK3 OTTHUMG00000151084 ENST00000216099.8:c.*575G>A chr22.hg19:g.39428896G>A NA Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6 hg19 CCDS46709.1 0.02 1.499849 TACxGGC COVERED NOVEL APOBEC3D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321232.2 7 6.620872 KEEP 1 0 0 22 750 GG 0.999879 0.979408 0 + 4 60 127 0 0 8.386926 51 60 1748 115 ENST00000216099.8 0.072727 0.979526 SYNGR1 9145 __UNKNOWN__ __UNKNOWN__ 22 39781391 39781391 __UNKNOWN__ 3'UTR SNP C C T rs113085293 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:39781391C>T ENST00000328933.5 + 0 4189 NM_004711.4 NP_004702.2 O43759 SNG1_HUMAN synaptogyrin 1 NA NA protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) tgtgtgtgtgcgtgtgtgtgC 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ002303 CCDS13989.1, CCDS13990.1, CCDS13991.1 22q13 2008-06-10 ENSG00000100321 ENSG00000100321 9145 11498 protein-coding gene gene with protein product 603925 NA 9760194, 10595519 Standard NM_004711 NM_004711 NA Approved O43759 OTTHUMG00000030978 ENST00000328933.5:c.*3472C>T chr22.hg19:g.39781391C>T NA A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4 hg19 CCDS13989.1 0.02 -0.359597 GTGxGTG COVERED NOVEL SYNGR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075866.2 7 6.3046 KEEP 0 0 0 21 704 CC 0.999869 0.888759 0 + 7 60 194 1 0 14.688288 33 60 1108 77 ENST00000328933.5 0.175 0.888875 XPNPEP3 63929 __UNKNOWN__ __UNKNOWN__ 22 41326596 41326596 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:41326596T>C ENST00000357137.4 + 0 5765 XPNPEP3_ENST00000544094.1_Intron NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative NA NA glomerular filtration (GO:0003094)|protein processing (GO:0016485) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 ttttttgagatagagtctcac 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Ovarian(145;306 1841 7037 21878 30110) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14007.1, CCDS74869.1 22q13.2 2010-07-20 ENSG00000196236 ENSG00000196236 63929 28052 protein-coding gene gene with protein product 613553 NA 15708373, 20179356 Standard NM_022098 NM_022098 NA Approved APP3, NPHPL1 uc003azh.3 Q9NQH7 OTTHUMG00000151312 ENST00000357137.4:c.*4157T>C chr22.hg19:g.41326596T>C NA B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0 hg19 CCDS14007.1 0.02 2.009391 AGAxAGA COVERED NOVEL XPNPEP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322201.2 11 7.050345 KEEP 0 1 33 35 1002 TT 0.999999 0.994421 0 + 5 60 150 1 0 10.111281 51 60 1462 126 ENST00000357137.4 0.089286 0.994422 WBP2NL 164684 __UNKNOWN__ __UNKNOWN__ 22 42416056 42416056 __UNKNOWN__ Missense_Mutation SNP A A G rs133335 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:42416056A>G ENST00000328823.9 + 4 393 c.362A>G c.(361-363)gAt>gGt p.D121G WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47G NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 121 NA D -> G (in dbSNP:rs133335). {ECO:0000269|PubMed:15489334}. egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126) perinuclear theca (GO:0033011) WW domain binding (GO:0050699) breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 AGAAATGGAGATGCCATTGAA 0.428 NA NA G||| 2735 0.546126 0.4697 0.3631 5008 , , NA 19560 0.8641 NA 0.4791 False NA ,,, NA NA NA 2504 0.5204 NA NA NA NA 0 G GLY/ASP 2118,2288 600.3+/-389.5 515,1088,600 139 141 140 362 5.2 1 22 dbSNP_78 140 3992,4608 600.1+/-394.2 944,2104,1252 yes missense WBP2NL NM_152613.2 94 1459,3192,1852 GG,GA,AA 46.4186,48.0708,46.9783 benign 121/310 42416056 6110,6896 2203 4300 6503 SO:0001583 missense BC022546 CCDS14029.1 22q13.2 2007-07-18 ENSG00000183066 ENSG00000183066 164684 28389 protein-coding gene gene with protein product postacrosomal sheath WW domain-binding protein 610981 NA 17289678 Standard NM_152613 NM_152613 NA Approved FLJ26145, MGC26816, PAWP uc003bbt.3 Q6ICG8 OTTHUMG00000151270 ENST00000328823.9:c.362A>G chr22.hg19:g.42416056A>G ENSP00000332983:p.Asp121Gly NA A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3 hg19 CCDS14029.1 0.02 1.707595 GAGxTGC COVERED 1219 0.5581501831501832 240 0.4878048780487805 128 0.35359116022099446 487 0.8513986013986014 364 0.48021108179419525 G 0.762 -0.769100 0.02974 0.480708 0.464186 ENSG00000183066 ENST00000328823;ENST00000543212 T;T 0.03441 3.93;3.93 5.23 5.23 0.72850 WW-domain-binding protein (1); 0.000000 0.46442 N 0.000295 T 0.00012 0.0000 N 0.00039 -2.505 0.45502 P 0.0015340000000000353 B 0.02656 0.0 B 0.01281 0.0 T 0.29701 -1.0003 9 0.02654 T 1 -5.2897 13.0995 0.59212 0.0782:0.0:0.9218:0.0 rs133335;rs17856677;rs17856678;rs52820053;rs58275644;rs133335 121 Q6ICG8 WBP2L_HUMAN G 121;47 ENSP00000332983:D121G;ENSP00000442447:D47G ENSP00000332983:D121G D + 2 0 WBP2NL 40746002 1.000000 0.71417 1.000000 0.80357 0.086000 0.17979 5.333000 0.65917 1.454000 0.47793 -0.119000 0.15052 GAT NOVEL WBP2NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322037.1 10 14.444285 KEEP 0 0 0 48 1527 AA 1 0.999804 0 + 6 60 208 0 0 14.154054 82 60 2583 201 ENST00000328823.9 0.068182 0.999804 RRP7A 27341 __UNKNOWN__ __UNKNOWN__ 22 42906220 42906220 __UNKNOWN__ 3'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:42906220A>G ENST00000323013.6 - 0 3554 SERHL_ENST00000359906.2_RNA NM_015703.4 NP_056518.2 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A (S. cerevisiae) NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 cacccgcctcagcctcccaaa 0.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC035992 CCDS14036.1 22q13.2 2008-08-08 ENSG00000189306 ENSG00000189306 27341 24286 protein-coding gene gene with protein product NA NA 10810093, 12087473 Standard NM_015703 NM_015703 NA Approved CGI-96 uc003bcq.3 Q9Y3A4 OTTHUMG00000150891 ENST00000323013.6:c.*2696T>C chr22.hg19:g.42906220A>G NA A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5 hg19 CCDS14036.1 0.02 4.064372 CTCxGCC COVERED NOVEL RRP7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320451.1 14 4.382503 KEEP 2 2 70 39 1199 AA 1 0.999984 0 - 6 60 198 0 0 12.81648 94 60 2887 215 ENST00000323013.6 0.06 0.999984 RRP7A 27341 __UNKNOWN__ __UNKNOWN__ 22 42910760 42910760 __UNKNOWN__ Silent SNP A A G rs28430278 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:42910760A>G ENST00000323013.6 - 5 501 c.486T>C c.(484-486)tcT>tcC p.S162S NM_015703.4 NP_056518.2 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A (S. cerevisiae) 162 NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 GGTCGGGCACAGAGTCTGCGT 0.647 NA NA A||| 129 0.0257588 0.0817 0.013 5008 , , NA 21046 0.005 NA 0.005 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 40 43 42 NA NA 22 NA 42910760 2201 4299 6500 SO:0001819 synonymous_variant BC035992 CCDS14036.1 22q13.2 2008-08-08 ENSG00000189306 ENSG00000189306 27341 24286 protein-coding gene gene with protein product NA NA 10810093, 12087473 Standard NM_015703 NM_015703 NA Approved CGI-96 uc003bcq.3 Q9Y3A4 OTTHUMG00000150891 ENST00000323013.6:c.486T>C chr22.hg19:g.42910760A>G NA A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5 hg19 CCDS14036.1 0.02 1.622447 CACxGAG COVERED NOVEL RRP7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320451.1 2 12.637255 KEEP 13 0 0 42 1284 AA 1 0.998695 0 - 5 27 167 0 0 11.082705 71 50 2154 179 ENST00000323013.6 0.065789 0.998696 ARFGAP3 26286 __UNKNOWN__ __UNKNOWN__ 22 43203137 43203137 __UNKNOWN__ Silent SNP C C T rs738535 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:43203137C>T ENST00000263245.5 - 14 1572 c.1353G>A c.(1351-1353)tcG>tcA p.S451S ARFGAP3_ENST00000437119.2_Silent_p.S407S|ARFGAP3_ENST00000429508.2_Silent_p.S379S NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 451 NA intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 AGGAACTTGCCGACAGCCTCT 0.522 NA NA C||| 1553 0.310104 0.289 0.366 5008 , , NA 17906 0.0853 NA 0.4364 False NA ,,, NA NA NA 2504 0.4008 NA NA NA GBM(58;544 1030 21460 27159 48838) NA 0 C , 1535,2871 481.0+/-359.0 273,989,941 41 35 37 1221,1353 -6.2 0 22 dbSNP_86 37 3892,4708 533.8+/-382.5 907,2078,1315 no coding-synonymous,coding-synonymous ARFGAP3 NM_001142293.1,NM_014570.4 , 1180,3067,2256 TT,TC,CC 45.2558,34.8389,41.7269 , 407/473,451/517 43203137 5427,7579 2203 4300 6503 SO:0001819 synonymous_variant AK002083 CCDS14042.1, CCDS46722.1 22q13.2 2009-11-30 2002-08-20 2002-08-23 ENSG00000242247 ENSG00000242247 26286 ADP-ribosylation factor GTPase activating proteins 661 protein-coding gene gene with protein product 612439 ADP-ribosylation factor GTPase activating protein 1 ARFGAP1 NA 10704287, 11172815 Standard NM_014570 NM_014570 NA Approved uc003bdd.2 Q9NP61 OTTHUMG00000150718 ENST00000263245.5:c.1353G>A chr22.hg19:g.43203137C>T NA E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4 hg19 CCDS14042.1 0.02 1.31871 TGCxGAC COVERED 651 0.2980769230769231 145 0.29471544715447157 149 0.4116022099447514 36 0.06293706293706294 321 0.4234828496042216 C 0.050 -1.253780 0.01457 0.348389 0.452558 ENSG00000242247 ENST00000453516 . . . 4.94 -6.15 0.02105 . . . . . T 0.00012 0.0000 . . . 0.20403 P 0.9999019985 . . . . . . T 0.48801 -0.9003 3 . . . -8.7248 1.6031 0.02679 0.3155:0.3219:0.2148:0.1478 rs738535;rs1044700;rs3171717;rs17405155;rs17409171;rs17849916;rs60500703;rs738535 . . . S 254 . . G - 1 0 ARFGAP3 41533081 0.156000 0.22821 0.015000 0.15790 0.006000 0.05464 -0.630000 0.05502 -0.428000 0.07339 -0.923000 0.02734 GGC NOVEL ARFGAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319747.2 6 13.076637 KEEP 0 1 33 55 1858 CC 1 0.999768 0 - 5 60 155 0 0 9.584586 82 60 2743 203 ENST00000263245.5 0.057471 0.999768 PARVG 64098 __UNKNOWN__ __UNKNOWN__ 22 44602549 44602549 __UNKNOWN__ 3'UTR SNP A A C rs139187 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:44602549A>C ENST00000444313.3 + 0 1723 PARVG_ENST00000422871.1_3'UTR|PARVG_ENST00000415224.1_3'UTR NM_022141.5 NP_071424.1 Q9HBI0 PARVG_HUMAN parvin, gamma NA NA actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) actin binding (GO:0003779) endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) TGGGAACTTGACAGGGTCCTG 0.522 NA NA C||| 1034 0.20647 0.0499 0.2161 5008 , , NA 18649 0.1974 NA 0.3986 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF237772 CCDS14057.1 22q13.31 2013-01-24 ENSG00000138964 ENSG00000138964 64098 Parvins 14654 protein-coding gene gene with protein product 608122 NA 11171322 Standard NM_022141 NM_022141 NA Approved uc003bep.4 Q9HBI0 OTTHUMG00000150473 ENST00000444313.3:c.*243A>C chr22.hg19:g.44602549A>C NA B4DDW5|E7EVM6|Q9BQX5|Q9NSG1 hg19 CCDS14057.1 0.02 -0.342083 TTGxCAG COVERED NOVEL PARVG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318238.4 1 7.220657 KEEP 0 0 0 24 739 AA 0.999909 0.865667 0 + 4 60 138 0 0 10.109346 35 60 1090 89 ENST00000444313.3 0.102564 0.865745 PRR5 55615 __UNKNOWN__ __UNKNOWN__ 22 45075565 45075565 __UNKNOWN__ 5'UTR SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:45075565A>G ENST00000403581.1 + 0 495 PRR5_ENST00000006251.7_Intron NM_001198721.1 NP_001185650.1 P85299 PRR5_HUMAN proline rich 5 (renal) NA NA cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934) TORC2 complex (GO:0031932) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) cagcctgggcaacaagagcga 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF177331 CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1 22q13.3 2011-02-10 ENSG00000186654 ENSG00000186654 55615 31682 protein-coding gene gene with protein product protein observed with Rictor-1 609406 NA 15718101, 17599906 Standard NM_001017528 NM_001017528 NA Approved PP610, FLJ20185k, Protor-1 P85299 OTTHUMG00000150460 ENST00000403581.1:c.-115A>G chr22.hg19:g.45075565A>G NA B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20 hg19 CCDS56232.1 0.02 -0.429747 GGCxACA COVERED NOVEL PRR5-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000318199.1 8 4.813472 KEEP 0 0 0 16 474 AA 0.997832 0.952421 0 + 3 60 104 1 0 7.077428 41 60 1209 84 ENST00000403581.1 0.068182 0.954491 WNT7B 7477 __UNKNOWN__ __UNKNOWN__ 22 46318159 46318159 __UNKNOWN__ 3'UTR SNP T T G rs9330785 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chr22:46318159T>G ENST00000409496.3 - 0 2116 WNT7B_ENST00000410089.1_3'UTR|WNT7B_ENST00000339464.4_3'UTR P56706 WNT7B_HUMAN wingless-type MMTV integration site family, member 7B NA NA activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109) endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 19 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) AGAGGGTGTCTAGGGGATGGG 0.562 NA NA G||| 2022 0.403754 0.6664 0.4452 5008 , , NA 17064 0.2123 NA 0.333 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF416743 CCDS33667.1 22q13 2013-02-28 ENSG00000188064 ENSG00000188064 7477 Wingless-type MMTV integration sites, Endogenous ligands 12787 protein-coding gene gene with protein product 601967 NA 8168088, 9284940, 11562755 Standard NM_058238 NM_058238 NA Approved uc003bgo.2 P56706 OTTHUMG00000154636 ENST00000409496.3:c.*577A>C chr22.hg19:g.46318159T>G NA B8A596|Q96Q12 hg19 0.02 1.660803 GTCxAGG COVERED NOVEL WNT7B-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336420.1 1 13.199367 KEEP 0 0 0 44 1266 TT 1 0.999487 0 - 4 60 142 0 0 9.171217 78 60 2273 175 ENST00000409496.3 0.04878 0.999487 SYAP1 94056 __UNKNOWN__ __UNKNOWN__ X 16782743 16782743 __UNKNOWN__ 3'UTR SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:16782743T>C ENST00000380155.3 + 0 5413 NM_032796.3 NP_116185.2 Q96A49 SYAP1_HUMAN synapse associated protein 1 NA NA cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1) 10 Hepatocellular(33;0.0997) cctcggcctctcaaagtgctg 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF338728 CCDS14177.1 Xp22.31 2010-06-25 2010-06-25 ENSG00000169895 ENSG00000169895 94056 16273 protein-coding gene gene with protein product SAP47 homolog (Drosophila) NA NA 11483580 Standard NM_032796 NM_032796 NA Approved FLJ14495, PRO3113 uc004cxp.3 Q96A49 OTTHUMG00000021192 ENST00000380155.3:c.*4261T>C chrX.hg19:g.16782743T>C NA Q68CP1|Q96C60|Q96JQ6|Q96T20 hg19 CCDS14177.1 0.02 -0.306992 CTCxCAA COVERED NOVEL SYAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055904.1 3 5.717054 KEEP 0 0 0 19 605 TT 0.99986 0.800133 0 + 4 60 126 1 0 9.218698 29 60 900 82 ENST00000380155.3 0.121212 0.800245 EIF1AX 1964 __UNKNOWN__ __UNKNOWN__ X 20144116 20144116 __UNKNOWN__ 3'UTR SNP C C T rs7888433 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:20144116C>T ENST00000379607.5 - 0 2946 NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829) poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TTTAGCCACACTAGTGATAAA 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L18960 CCDS14196.1 Xp22.13 2014-02-19 2002-11-28 2004-05-26 ENSG00000173674 ENSG00000173674 1964 3250 protein-coding gene gene with protein product 300186 eukaryotic translation initiation factor 1A, X chromosome EIF4C, EIF1A NA 8106356, 9381176 Standard NM_001412 NA Approved eIF-1A, eIF-4C uc004czt.3 P47813 OTTHUMG00000022704 ENST00000379607.5:c.*2308G>A chrX.hg19:g.20144116C>T NA B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6 hg19 CCDS14196.1 0.02 1.488524 ACAxTAG COVERED NOVEL EIF1AX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058913.1 6 2.699061 KEEP 0 3 79 37 1261 CC 1 0.999218 0 - 7 33 207 0 0 13.748262 73 60 2504 175 ENST00000379607.5 0.0875 0.999218 PTCHD1 139411 __UNKNOWN__ __UNKNOWN__ X 23398214 23398214 __UNKNOWN__ Silent SNP T T C rs5926304 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:23398214T>C ENST00000379361.4 + 2 1718 c.858T>C c.(856-858)tgT>tgC p.C286C NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 286 SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}. NA cognition (GO:0050890)|smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) hedgehog receptor activity (GO:0008158) NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CCATCCTGTGTTGCTCTATGC 0.567 NA NA C||| 2399 0.635497 0.7118 0.4308 3775 , , NA 15053 0.4216 NA 0.4543 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 C 3351,484 1244,364,499,24,72 140 118 126 858 3.1 1 X dbSNP_114 126 4118,2610 901,1165,1151,362,721 no coding-synonymous PTCHD1 NM_173495.2 2145,1529,1650,386,793 CC,CT,C,TT,T 38.7931,12.6206,29.2909 286/889 23398214 7469,3094 2203 4300 6503 SO:0001819 synonymous_variant AK054858 CCDS35215.2 Xp22.13 2008-02-05 ENSG00000165186 ENSG00000165186 139411 26392 protein-coding gene gene with protein product 300828 NA Standard NM_173495 NM_173495 NA Approved FLJ30296 uc004dal.4 Q96NR3 OTTHUMG00000021251 ENST00000379361.4:c.858T>C chrX.hg19:g.23398214T>C NA B4DQH0|Q0IJ60|Q6P6B8 hg19 CCDS35215.2 0.02 1.86885 GTGxTGC COVERED NOVEL PTCHD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056047.2 1 9.927011 KEEP 0 0 0 33 974 TT 0.999998 0.999485 0 + 4 60 145 0 0 9.470529 78 60 2302 151 ENST00000379361.4 0.04878 0.999487 PTCHD1 139411 __UNKNOWN__ __UNKNOWN__ X 23412685 23412685 __UNKNOWN__ 3'UTR SNP T T C rs5926307 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:23412685T>C ENST00000379361.4 + 0 3910 NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 NA NA cognition (GO:0050890)|smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) hedgehog receptor activity (GO:0008158) NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 AACCCACTGATTGAAAGGTCA 0.423 NA NA t||| 2081 0.551258 0.4902 0.3646 3775 , , NA 13776 0.497 NA 0.3588 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK054858 CCDS35215.2 Xp22.13 2008-02-05 ENSG00000165186 ENSG00000165186 139411 26392 protein-coding gene gene with protein product 300828 NA Standard NM_173495 NM_173495 NA Approved FLJ30296 uc004dal.4 Q96NR3 OTTHUMG00000021251 ENST00000379361.4:c.*383T>C chrX.hg19:g.23412685T>C NA B4DQH0|Q0IJ60|Q6P6B8 hg19 CCDS35215.2 0.02 -0.271834 TGAxTGA COVERED NOVEL PTCHD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056047.2 4 5.716717 KEEP 0 0 0 19 598 TT 0.99986 0.717215 0 + 3 60 100 0 0 7.153162 28 60 818 66 ENST00000379361.4 0.096774 0.717315 CXorf36 79742 __UNKNOWN__ __UNKNOWN__ X 45009418 45009418 __UNKNOWN__ 3'UTR SNP G G T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:45009418G>T ENST00000398000.2 - 0 2855 CXorf36_ENST00000477281.1_5'UTR NM_176819.3 NP_789789.2 Q9H7Y0 DIA1R_HUMAN chromosome X open reading frame 36 NA NA extracellular region (GO:0005576) endometrium(1)|large_intestine(2)|lung(4) 7 tgagccaccgggcctggccTG 0.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF289581 CCDS14266.1, CCDS48096.1 Xp11.3-p11.23 2012-08-03 ENSG00000147113 ENSG00000147113 79742 25866 protein-coding gene gene with protein product NA NA 11944989, 21283809 Standard NM_024689 NM_176819 NA Approved FLJ14103, DIA1R uc004dgg.2 Q9H7Y0 OTTHUMG00000021403 ENST00000398000.2:c.*1479C>A chrX.hg19:g.45009418G>T NA A8MUU5|B2RPN7|Q6UWJ5 hg19 CCDS48096.1 0.02 -0.333365 CCGxGCC COVERED NOVEL CXorf36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056333.2 12 3.847401 KEEP 0 1 32 24 831 CG 0.999988 0.865735 0 - 3 60 94 0 0 6.312381 34 60 1189 95 ENST00000398000.2 0.081081 0.865745 SUV39H1 6839 __UNKNOWN__ __UNKNOWN__ X 48567295 48567295 __UNKNOWN__ 3'UTR SNP A A G rs3373 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:48567295A>G ENST00000376687.3 + 0 2763 AF196970.3_ENST00000416061.1_RNA NM_003173.2 NP_003164.1 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 (Drosophila) NA NA cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553) chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 catcccgccgaccccccagac 0.532 NA NA G||| 1498 0.396821 0.5469 0.2378 3775 , , NA 14094 0.1458 NA 0.2028 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF019968 CCDS14304.1, CCDS65252.1 Xp11.23 2011-07-01 2001-11-28 ENSG00000101945 ENSG00000101945 6839 Chromatin-modifying enzymes / K-methyltransferases 11479 protein-coding gene gene with protein product 300254 suppressor of variegation 3-9 (Drosophila) homolog 1 SUV39H NA 10202156 Standard NM_003173 NM_001282166 NA Approved KMT1A uc004dkn.3 O43463 OTTHUMG00000022701 ENST00000376687.3:c.*1334A>G chrX.hg19:g.48567295A>G NA B2R6E8|B4DST0|Q53G60|Q6FHK6 hg19 CCDS14304.1 0.02 1.853623 CCGxCCC COVERED NOVEL SUV39H1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058909.1 4 6.183413 KEEP 0 1 29 31 886 AA 0.999997 0.98954 0 + 5 60 168 0 0 11.753292 54 60 1638 144 ENST00000376687.3 0.084746 0.989542 ARHGEF9 23229 __UNKNOWN__ __UNKNOWN__ X 62857780 62857780 __UNKNOWN__ 3'UTR SNP A A G rs200166647 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:62857780A>G ENST00000253401.6 - 0 2479 ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000374870.4_3'UTR|ARHGEF9_ENST00000437457.2_3'UTR|ARHGEF9_ENST00000433323.2_3'UTR NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 NA NA apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) cytosol (GO:0005829) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 gtgtgtgtgtatgtgtactca 0.373 NA NA A||| 231 0.0611921 0.0227 0.0533 3775 , , NA 9298 0.0575 NA 0.0358 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007884 CCDS35315.1, CCDS55429.1, CCDS55430.1 Xq11.1 2013-01-10 ENSG00000131089 ENSG00000131089 23229 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14561 protein-coding gene gene with protein product collybistin 300429 NA 10559246, 9455477 Standard NM_015185 NA Approved KIAA0424, PEM-2 uc011mot.2 O43307 OTTHUMG00000021700 ENST00000253401.6:c.*128T>C chrX.hg19:g.62857780A>G NA A8K1S8|B4DHC7|F8W7P8|Q5JSL6 hg19 CCDS35315.1 0.02 6.020092 TGTxTGT COVERED NOVEL ARHGEF9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056937.1 71 8.585149 KEEP 1 7 159 85 2395 AA 1 1 0 - 9 60 303 1 0 20.254652 127 60 3497 396 ENST00000253401.6 0.066176 1 SLC7A3 84889 __UNKNOWN__ __UNKNOWN__ X 70146398 70146398 __UNKNOWN__ Silent SNP A A G rs4360450 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:70146398A>G ENST00000374299.3 - 10 1743 c.1599T>C c.(1597-1599)agT>agC p.S533S SLC7A3_ENST00000298085.4_Silent_p.S533S Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 533 NA amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GGGGAGTGGAACTCTGTGGCT 0.468 NA NA G||| 3066 0.812185 0.5658 0.6081 3775 , , NA 14725 0.754 NA 0.4791 False NA ,,, NA NA NA 2504 0.6687 NA NA NA NA 0 G , 2907,924 934,598,441,99,128 47 39 42 1599,1599 1.1 0.1 X dbSNP_111 42 4337,2385 992,1138,1215,297,653 no coding-synonymous,coding-synonymous SLC7A3 NM_001048164.2,NM_032803.5 , 1926,1736,1656,396,781 GG,GA,G,AA,A 35.4805,24.119,31.356 , 533/620,533/620 70146398 7244,3309 2200 4295 6495 SO:0001819 synonymous_variant AF320612 CCDS14404.1 Xq12 2013-05-22 ENSG00000165349 ENSG00000165349 84889 Solute carriers 11061 protein-coding gene gene with protein product 300443 NA 11591158 Standard NM_032803 NM_001048164 NA Approved CAT-3, ATRC3, FLJ14541 uc004dyn.3 Q8WY07 OTTHUMG00000021780 ENST00000374299.3:c.1599T>C chrX.hg19:g.70146398A>G NA D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7 hg19 CCDS14404.1 0.02 -0.359599 GGAxCTC COVERED NOVEL SLC7A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057080.1 0 4.211573 KEEP 0 0 0 14 425 AA 0.995343 0.884736 0 - 3 60 104 0 0 7.172327 38 60 1151 79 ENST00000374299.3 0.073171 0.888875 GPR174 84636 __UNKNOWN__ __UNKNOWN__ X 78426621 78426621 __UNKNOWN__ Silent SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:78426621A>G ENST00000276077.1 + 1 153 c.117A>G c.(115-117)ttA>ttG p.L39L NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 39 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 GGAATATATTAGCCCTGTGGG 0.383 NA NA HNSCC(63;0.18) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 89 77 81 NA NA X NA 78426621 2203 4300 6503 SO:0001819 synonymous_variant AF345567 CCDS14443.1 Xq13.3 2012-08-21 ENSG00000147138 ENSG00000147138 84636 GPCR / Class A : Orphans 30245 protein-coding gene gene with protein product 300903 NA Standard NM_032553 NM_032553 NA Approved FKSG79 uc004edg.1 Q9BXC1 OTTHUMG00000021898 ENST00000276077.1:c.117A>G chrX.hg19:g.78426621A>G NA Q2M3F7 hg19 CCDS14443.1 0.02 1.886449 ATTxGCC COVERED NOVEL GPR174-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057327.1 4 11.26761 KEEP 0 1 36 50 1516 AA 1 0.999218 0 + 4 60 135 0 0 8.521146 76 60 2224 172 ENST00000276077.1 0.05 0.999218 CHM 1121 __UNKNOWN__ __UNKNOWN__ X 85211121 85211121 __UNKNOWN__ Intron SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:85211121C>T ENST00000357749.2 - 8 1196 CHM_ENST00000537751.1_Intron|CHM_ENST00000467744.2_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) NA NA blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968) GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TCAAGTATCACTTTTAGAAGG 0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 29 26 27 NA NA X NA 85211121 2203 4299 6502 SO:0001627 intron_variant X78121 CCDS14454.1, CCDS48139.1 Xq21.1-q21.3 2014-09-17 ENSG00000188419 ENSG00000188419 1121 1940 protein-coding gene gene with protein product 300390 TCD, DXS540 NA 1373238 Standard NM_000390 XM_006724615 NA Approved REP-1 uc004eet.3 P24386 OTTHUMG00000021937 ENST00000357749.2:c.1166+36G>A chrX.hg19:g.85211121C>T NA A1L4D2|O43732 hg19 CCDS14454.1 0.02 1.097352 TCAxTTT COVERED NOVEL CHM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057396.3 8 8.125949 KEEP 0 0 0 27 936 CC 0.999988 0.981943 0 - 5 60 131 0 0 8.228287 50 60 1757 121 ENST00000357749.2 0.090909 0.981955 SYTL4 94121 __UNKNOWN__ __UNKNOWN__ X 99939974 99939974 __UNKNOWN__ Intron SNP G G A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:99939974G>A ENST00000372989.1 - 15 1781 SYTL4_ENST00000454200.2_Intron|SYTL4_ENST00000263033.5_Intron|SYTL4_ENST00000455616.1_Intron|SYTL4_ENST00000276141.6_Intron|SYTL4_ENST00000372981.1_3'UTR NM_080737.2 NP_542775.2 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 NA NA exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714) centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021) neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 "Insulin(DB00071)|Insulin Regular(DB00030) gattacaggcgtgagccacca 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14472.1 Xq21.33 2008-07-31 2008-07-31 ENSG00000102362 ENSG00000102362 94121 15588 protein-coding gene gene with protein product granuphilin-a, exophilin-2 300723 NA Standard NM_080737 NM_080737 NA Approved uc010nnc.3 Q96C24 OTTHUMG00000022004 ENST00000372989.1:c.1449+1012C>T chrX.hg19:g.99939974G>A NA Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1 hg19 CCDS14472.1 0.02 -0.315317 GGCxTGA COVERED NOVEL SYTL4-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000057488.1 4 2.740919 KEEP 0 1 25 18 590 GG 0.99986 0.81835 0 - 4 60 102 0 0 6.72171 31 60 953 73 ENST00000372989.1 0.114286 0.818465 NXF5 55998 __UNKNOWN__ __UNKNOWN__ X 101092486 101092486 __UNKNOWN__ Missense_Mutation SNP G G A rs77411392 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:101092486G>A ENST00000473265.2 - 14 1240 c.1060C>T c.(1060-1062)Cgg>Tgg p.R354W NXF5_ENST00000361708.2_Missense_Mutation_p.R354W|NXF5_ENST00000537026.1_Missense_Mutation_p.R354W Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 354 NTF2; truncated. NA mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658) cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 GGGCCTGCCCGAGGGAGGAAG 0.552 NA NA G||| 54 0.0143046 0.0386 0.0029 3775 , , NA 14621 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 G TRP/ARG 202,3633 4,173,21,1455,550 198 170 180 1060 -4.2 0 X dbSNP_131 180 2,6726 0,2,0,2426,1872 yes missense NXF5 NM_032946.2 101 4,175,21,3881,2422 AA,AG,A,GG,G 0.0297,5.2673,1.9313 benign 354/366 101092486 204,10359 2203 4300 6503 SO:0001583 missense AJ277654 CCDS14491.1, CCDS14491.2 Xq22 2008-07-28 ENSG00000126952 ENSG00000126952 55998 8075 protein-coding gene gene with protein product 300319 NA 11566096 Standard NM_032946 NA Approved uc011mrk.1 Q9H1B4 OTTHUMG00000022042 ENST00000473265.2:c.1060C>T chrX.hg19:g.101092486G>A ENSP00000426978:p.Arg354Trp NA A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3 hg19 CCDS14491.2 0.02 1.392205 CCCxAGG COVERED 17 0.010247136829415311 15 0.030612244897959183 1 0.0027624309392265192 1 0.0017482517482517483 0 0.0 . 5.340 0.248089 0.10130 0.052673 2.97E-4 ENSG00000126952 ENST00000537026;ENST00000473265;ENST00000361708 T;T;T 0.46451 0.87;0.87;0.88 2.11 -4.21 0.03812 . 0.320684 0.27725 U 0.018115 T 0.02418 0.0074 N 0.12182 0.205 0.09310 N 1 B 0.06786 0.001 B 0.01281 0.0 T 0.07635 -1.0762 10 0.66056 D 0.02 . 0.7881 0.01052 0.2428:0.1324:0.1767:0.4481 . 354 A2RRM0 . W 354 ENSP00000442401:R354W;ENSP00000426978:R354W;ENSP00000355286:R354W ENSP00000263032:R354W R - 1 2 NXF5 100979142 0.000000 0.05858 0.000000 0.03702 0.376000 0.30014 -3.654000 0.00402 -3.213000 0.00214 -1.508000 0.00951 CGG NOVEL NXF5-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359387.1 5 11.431222 KEEP 0 0 0 38 1231 GG 1 0.981955 0 - 4 60 121 0 0 7.756325 52 60 1678 119 ENST00000473265.2 0.071429 0.981955 NXF3 56000 __UNKNOWN__ __UNKNOWN__ X 102332091 102332091 __UNKNOWN__ Intron SNP T T A LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:102332091T>A ENST00000395065.3 - 18 1686 NXF3_ENST00000425644.1_Intron NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 NA NA mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973) cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166) NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 GCCAACTATCTGCAAGTTCCC 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ277527 CCDS14503.1 Xq22 2008-02-05 ENSG00000147206 ENSG00000147206 56000 8073 protein-coding gene gene with protein product 300316 NA 11073998 Standard NM_022052 NM_022052 NA Approved uc004eju.3 Q9H4D5 OTTHUMG00000022088 ENST00000395065.3:c.1584+450A>T chrX.hg19:g.102332091T>A NA B4DYS7|Q5H9I1|Q9H1A9 hg19 CCDS14503.1 0.02 1.435296 ATCxGCA COVERED NOVEL NXF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057684.1 22 21.062424 KEEP 0 0 0 70 2179 TT 1 0.999678 0 - 4 60 133 0 0 8.188296 82 60 2463 214 ENST00000395065.3 0.046512 0.999678 XIAP 331 __UNKNOWN__ __UNKNOWN__ X 123047709 123047709 __UNKNOWN__ 3'UTR SNP G G A rs72610614 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:123047709G>A ENST00000371199.3 + 0 8471 XIAP_ENST00000355640.3_3'UTR NM_001167.3 NP_001158.2 P98170 XIAP_HUMAN X-linked inhibitor of apoptosis NA NA apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234) cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3) 25 GAACCTTTCTGTGTGGAAAAC 0.259 NA NA X-linked Lymphoproliferative syndrome NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2 U45880 CCDS14606.1 Xq25 2014-09-17 2008-03-04 2008-03-04 ENSG00000101966 ENSG00000101966 331 Baculoviral IAP repeat containing 592 protein-coding gene gene with protein product 300079 baculoviral IAP repeat-containing 4 API3, BIRC4 NA 8552191, 8654366 Standard NM_001167 NM_001167 NA Approved hILP uc010nqu.3 P98170 OTTHUMG00000022336 ENST00000371199.3:c.*6678G>A chrX.hg19:g.123047709G>A NA D3DTF2|Q9NQ14 hg19 CCDS14606.1 0.02 1.091763 TCTxTGT COVERED NOVEL XIAP-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058165.5 1 4.585368 KEEP 8 2 65 38 1355 GG 1 0.999218 0 + 8 60 224 0 0 15.122552 68 60 2359 195 ENST00000371199.3 0.105263 0.999218 SASH3 54440 __UNKNOWN__ __UNKNOWN__ X 128928232 128928232 __UNKNOWN__ 3'UTR SNP A A G rs34813627 LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:128928232A>G ENST00000356892.3 + 0 1681 NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 NA NA homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 GTTTCAGGTCAGTCTAAAAAC 0.507 NA NA A||| 83 0.0219868 8e-04 0.0216 3775 , , NA 15180 0 NA 0.0626 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC051881 CCDS14614.1 Xq26 2013-01-10 2008-02-18 2008-02-18 ENSG00000122122 ENSG00000122122 54440 SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing 15975 protein-coding gene gene with protein product 300441 chromosome X open reading frame 9 CXorf9 NA 11470164 Standard NM_018990 NM_018990 NA Approved SLY, 753P9, SH3D6C, HACS2 uc004euu.3 O75995 OTTHUMG00000022372 ENST00000356892.3:c.*424A>G chrX.hg19:g.128928232A>G NA A6NCH1|A8K7K8|Q5JZ38 hg19 CCDS14614.1 0.02 1.769091 GTCxGTC COVERED NOVEL SASH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058208.1 4 17.448629 KEEP 0 0 0 58 1761 AA 1 0.999407 0 + 5 60 173 0 0 11.539296 76 60 2279 196 ENST00000356892.3 0.061728 0.999407 BCORL1 63035 __UNKNOWN__ __UNKNOWN__ X 129190322 129190322 __UNKNOWN__ 3'UTR SNP C C T LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:129190322C>T ENST00000218147.7 + 0 5544 BCORL1_ENST00000303743.5_3'UTR|BCORL1_ENST00000540052.1_3'UTR|BCORL1_ENST00000359304.2_3'UTR Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 NA NA chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TCATTGTTATCGTGGTTGCTG 0.527 NA NA c||| 1 0.000264901 0 0 3775 , , NA 12205 0.001 NA 0 False NA ,,, NA NA NA 2504 0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136450 CCDS14616.1 Xq25-q26.1 2014-09-17 2010-06-10 ENSG00000085185 ENSG00000085185 63035 Ankyrin repeat domain containing 25657 protein-coding gene gene with protein product 300688 chromosome X open reading frame 10, BCL6 co-repressor-like 1 CXorf10 NA Standard NM_021946 NM_021946 NA Approved FLJ11362 uc022cdu.1 Q5H9F3 OTTHUMG00000022379 ENST00000218147.7:c.*211C>T chrX.hg19:g.129190322C>T NA B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528 hg19 CCDS14616.1 0.02 0.969027 TATxGTG COVERED NOVEL BCORL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058223.1 4 18.357676 KEEP 0 0 0 61 2026 CC 1 0.999907 0 + 5 60 139 0 0 7.821436 89 60 2874 198 ENST00000218147.7 0.053191 0.999907 PHF6 84295 __UNKNOWN__ __UNKNOWN__ X 133553093 133553093 __UNKNOWN__ Intron SNP A A G LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:133553093A>G ENST00000332070.3 + 9 1170 PHF6_ENST00000394292.1_Intron|PHF6_ENST00000370803.3_Intron|PHF6_ENST00000416404.2_Intron|PHF6_ENST00000370799.1_3'UTR NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) tgttgcccagactggtctcaa 0.483 NA NA F, N, Splice, Mis ETP ALL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA Colon(100;666 1493 6344 21231 35807) Rec yes X Xq26.3 84295 PHD finger protein 6 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058726 CCDS14639.1, CCDS14640.1 Xq26 2014-09-17 ENSG00000156531 ENSG00000156531 84295 Zinc fingers, PHD-type 18145 protein-coding gene gene with protein product centromere protein 31 300414 Borjeson-Forssman-Lehmann syndrome BFLS, BORJ NA 12415272, 15466013 Standard NM_032458 NM_032335 NA Approved KIAA1823, MGC14797, CENP-31 uc004exk.3 Q8IWS0 OTTHUMG00000022453 ENST00000332070.3:c.968+1761A>G chrX.hg19:g.133553093A>G NA A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0 hg19 CCDS14639.1 0.02 -0.438528 CAGxCTG COVERED NOVEL PHF6-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000058367.1 16 6.653369 KEEP 0 1 37 35 1040 AA 0.999999 0.959858 0 + 3 60 104 0 0 6.96002 45 60 1366 121 ENST00000332070.3 0.0625 0.959859 F9 2158 __UNKNOWN__ __UNKNOWN__ X 138619230 138619230 __UNKNOWN__ Silent SNP T T C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:138619230T>C ENST00000218099.2 + 2 157 c.150T>C c.(148-150)ggT>ggC p.G50G F9_ENST00000394090.2_Silent_p.G50G|F9_ENST00000479617.2_3'UTR NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 50 Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}. NA blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Menadione(DB00170) ATAATTCAGGTAAATTGGAAG 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 127 127 127 NA NA X NA 138619230 2202 4299 6501 SO:0001819 synonymous_variant M11309 CCDS14666.1 Xq26.3-q27.1 2014-09-17 2008-08-01 ENSG00000101981 ENSG00000101981 2158 3.4.21.22 3551 protein-coding gene gene with protein product Factor IX, plasma thromboplastic component, Christmas disease, hemophilia B 300746 NA Standard NM_000133 NA Approved FIX uc004fas.1 P00740 OTTHUMG00000022536 ENST00000218099.2:c.150T>C chrX.hg19:g.138619230T>C NA A8K9N4|F2RM36|Q5FBE1|Q5JYJ8 hg19 CCDS14666.1 0.02 -0.350832 AGGxAAA COVERED NOVEL F9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058557.1 1 3.443746 KEEP 0 1 36 24 705 TT 0.999931 0.877647 0 + 8 60 284 0 0 23.525896 32 60 945 105 ENST00000218099.2 0.2 0.877708 SPANXN2 494119 __UNKNOWN__ __UNKNOWN__ X 142804493 142804493 __UNKNOWN__ 5'UTR SNP T T C rs851090 byFrequency LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:142804493T>C ENST00000370498.1 - 0 23 NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 NA NA NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) ACCATGTATCTTAGTCTTGTT 0.373 NA NA C||| 2261 0.59894 0.3374 0.4712 3775 , , NA 15283 0.6329 NA 0.4105 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS35419.1 Xq27.3 2012-06-12 ENSG00000203924 ENSG00000268988 494119 33175 protein-coding gene gene with protein product cancer/testis antigen family 11, member 7 300665 NA 14973187, 17012309 Standard NM_001009615 NM_001009615 NA Approved SPANX-N2, CT11.7 uc004fbz.3 Q5MJ10 OTTHUMG00000022583 ENST00000370498.1:c.-731A>G chrX.hg19:g.142804493T>C NA Q0ZNM2 hg19 CCDS35419.1 0.02 1.772194 ATCxTAG COVERED NOVEL SPANXN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058621.2 6 18.656614 KEEP 0 0 0 62 1973 TT 1 0.999895 0 - 4 60 145 0 0 9.285447 87 60 2790 234 ENST00000370498.1 0.043956 0.999895 GAB3 139716 __UNKNOWN__ __UNKNOWN__ X 153907316 153907316 __UNKNOWN__ Intron SNP A A C LTS-031_T LTS-031_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-031_T LTS-031_N g.chrX:153907316A>C ENST00000424127.2 - 10 1699 GAB3_ENST00000369575.3_Intron|GAB3_ENST00000496390.1_Intron Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 NA NA macrophage differentiation (GO:0030225) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) caactgtagtaccagctactt 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY057989 CCDS14760.1, CCDS48198.1, CCDS65357.1 Xq28 2013-01-10 ENSG00000160219 ENSG00000160219 139716 Pleckstrin homology (PH) domain containing 17515 protein-coding gene gene with protein product DOS/Gab family member 3, Gab3 scaffolding protein 300482 NA 11739737 Standard NM_001081573 XM_005274648 NA Approved uc004fmk.1 Q8WWW8 OTTHUMG00000024245 ENST00000424127.2:c.1648-745T>G chrX.hg19:g.153907316A>C NA A6NHF8|E9PB44 hg19 CCDS48198.1 0.02 1.534963 AGTxCCA COVERED . . . . . . . . . . A 0.001 -3.104980 0.00033 . . ENSG00000160219 ENST00000454973 . . . 0.426 -0.852 0.10713 . . . . . T 0.18299 0.0439 . . . 0.09310 N 1 . . . . . . T 0.20240 -1.0281 3 . . . . . . . . . . . G 130 . . V - 2 0 GAB3 153560510 0.281000 0.24258 0.003000 0.11579 0.328000 0.28507 -0.847000 0.04331 -2.109000 0.00838 -1.361000 0.01213 GTA NOVEL GAB3-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000377380.1 18 8.353143 KEEP 0 1 38 41 1140 AA 1 0.999678 0 - 4 60 129 0 0 7.897206 77 60 2156 167 ENST00000424127.2 0.049383 0.999678